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1.  Susac's syndrome: the value of fundus fluorescein angiography 
BMJ Case Reports  2014;2014:bcr2014206546.
A 19-year-old woman presented with a 4-week history of headache, ataxia, vertigo, confusion, intermittent blurred vision in the right eye and intermittent hearing loss. MRI revealed white matter lesions and ‘pepper pot’ lesions of the corpus callosum. The cerebrospinal fluid had raised protein and lymphocytes. Fundal examination revealed multiple peripheral arterial occlusions in the both eyes confirmed with fundus fluorescein angiography (FFA). A diagnosis of Susac's syndrome was made. The patient was initially treated with steroids, followed by azathioprine and intravenous immunoglobulins (IVIg). Clinical improvement was noted, associated with improvement of the retinal circulation on FFA.
doi:10.1136/bcr-2014-206546
PMCID: PMC4187432  PMID: 25281252
2.  Fusion Molecules of Heat Shock Protein HSPX with Other Antigens of Mycobacterium tuberculosis Show High Potential in Serodiagnosis of Tuberculosis 
PLoS ONE  2016;11(9):e0163349.
Variable individual response against the antigens of Mycobacterium tuberculosis necessitates detection of multiple antibodies for enhancing reliability of serodiagnosis of tuberculosis. Fusion molecules consisting of two or more antigens showing high sensitivity would be helpful in achieving this objective. Antigens of M. tuberculosis HSPX and PE35 were expressed in a soluble form whereas tnPstS1 and FbpC1 were expressed as inclusion bodies at 37°C. Heat shock protein HSPX when attached to the N-termini of the antigens PE35, tnPstS1 and FbpC1, all the fusion molecules were expressed at high levels in E. coli in a soluble form. ELISA analysis of the plasma samples of TB patients against HSPX-tnPstS1 showed 57.7% sensitivity which is nearly the same as the expected combined value obtained after deducting the number of plasma samples (32) containing the antibodies against both the individual antigens. Likewise, the 54.4% sensitivity of HSPX-PE35 was nearly the same as that expected from the combined values of the contributing antigens. Structural analysis of all the fusion molecules by CD spectroscopy showed that α-helical and β-sheet contents were found close to those obtained through molecular modeling. Molecular modeling studies of HSPX-tnPstS1 and HSPX-PE35 support the analytical results as most of the epitopes of the contributing antigens were found to be available for binding to the corresponding antibodies. Using these fusion molecules in combination with other antigenic molecules should reduce the number of antigenic proteins required for a more reliable and economical serodiagnosis of tuberculosis. Also, HSPX seems to have potential application in soluble expression of heterologous proteins in E. coli.
doi:10.1371/journal.pone.0163349
PMCID: PMC5031420  PMID: 27654048
3.  LMAP: Lightweight Multigene Analyses in PAML 
BMC Bioinformatics  2016;17(1):354.
Background
Uncovering how phenotypic diversity arises and is maintained in nature has long been a major interest of evolutionary biologists. Recent advances in genome sequencing technologies have remarkably increased the efficiency to pinpoint genes involved in the adaptive evolution of phenotypes. Reliability of such findings is most often examined with statistical and computational methods using Maximum Likelihood codon-based models (i.e., site, branch, branch-site and clade models), such as those available in codeml from the Phylogenetic Analysis by Maximum Likelihood (PAML) package. While these models represent a well-defined workflow for documenting adaptive evolution, in practice they can be challenging for researchers having a vast amount of data, as multiple types of relevant codon-based datasets are generated, making the overall process hard and tedious to handle, error-prone and time-consuming.
Results
We introduce LMAP (Lightweight Multigene Analyses in PAML), a user-friendly command-line and interactive package, designed to handle the codeml workflow, namely: directory organization, execution, results gathering and organization for Likelihood Ratio Test estimations with minimal manual user intervention. LMAP was developed for the workstation multi-core environment and provides a unique advantage for processing one, or more, if not all codeml codon-based models for multiple datasets at a time. Our software, proved efficiency throughout the codeml workflow, including, but not limited, to simultaneously handling more than 20 datasets.
Conclusions
We have developed a simple and versatile LMAP package, with outstanding performance, enabling researchers to analyze multiple different codon-based datasets in a high-throughput fashion. At minimum, two file types are required within a single input directory: one for the multiple sequence alignment and another for the phylogenetic tree. To our knowledge, no other software combines all codeml codon substitution models of adaptive evolution. LMAP has been developed as an open-source package, allowing its integration into more complex open-source bioinformatics pipelines. LMAP package is released under GPLv3 license and is freely available at http://lmapaml.sourceforge.net/.
Electronic supplementary material
The online version of this article (doi:10.1186/s12859-016-1204-5) contains supplementary material, which is available to authorized users.
doi:10.1186/s12859-016-1204-5
PMCID: PMC5011788  PMID: 27597435
Adaptive evolution; Software package; PAML; codeml; Codon substitution models; Multigene; Multi-core
4.  A High-Throughput Size Exclusion Chromatography Method to Determine the Molecular Size Distribution of Meningococcal Polysaccharide Vaccine 
Molecular size distribution of meningococcal polysaccharide vaccine is a readily identifiable parameter that directly correlates with the immunogenicity. In this paper, we report a size exclusion chromatography method to determine the molecular size distribution and distribution coefficient value of meningococcal polysaccharide serogroups A, C, W, and Y in meningococcal polysaccharide (ACWY) vaccines. The analyses were performed on a XK16/70 column packed with sepharose CL-4B with six different batches of Ingovax® ACWY, a meningococcal polysaccharide vaccine produced by Incepta Vaccine Ltd., Bangladesh. A quantitative rocket immunoelectrophoresis assay was employed to determine the polysaccharide contents of each serogroup. The calculated distribution coefficient values of serogroups A, C, W, and Y were found to be 0.26 ± 0.16, 0.21 ± 0.11, 0.21 ± 0.11, and 0.14 ± 0.12, respectively, and met the requirements of British Pharmacopeia. The method was proved to be robust for determining the distribution coefficient values which is an obligatory requirement for vaccine lot release.
doi:10.1155/2016/9404068
PMCID: PMC5027369  PMID: 27688770
5.  Characteristics and Risk Factors of Cancer Associated Venous Thromboembolism☆ 
Thrombosis research  2015;136(3):535-541.
Introduction
The objective of this study was to examine the differences in commonly associated characteristics and risk factors of venous thromboembolism (VTE) between patients with and without cancer in a VTE population.
Materials and Methods
Uniform data were collected for patients with a diagnosis of VTE obtaining care at CDC funded Thrombosis Network Centers. Patient characteristics and risk factors were compared in VTE patients with and without cancer. Logistic regression was used to calculate the unadjusted and adjusted odds ratios (ORs) and 95% confidence intervals (CIs) to assess patient characteristics and thrombotic risk factors more frequently identified among VTE patients with cancer compared to those without cancer.
Results
Between August 2003 and April 2011, 3,115 adult patients with a diagnosis of VTE including 189 (6.1%) patients with active cancer participated in the multi-site thrombosis registry. VTE patients with cancer had a higher prevalence of PE and DVT in unusual sites compared to those without cancer. Thrombophilia was more common among VTE patients without cancer than those with cancer (25.1% vs 10.6%, p < 0.001). In adjusted analysis, age group ≥ 45 years (OR =5.20, 95% CI, 3.30, 8.18), surgery (OR =1.86, 95% CI, 1.19, 2.91), and hypertension (OR =1.66, 95% CI, 1.15, 2.40) were the VTE risk factors more commonly found among VTE patients with cancer.
Conclusion
The study identified several thrombotic risk factors more likely to be found with cancer associated VTE, which may help to characterize at risk cancer patients and to develop prevention and management strategies in this population.
doi:10.1016/j.thromres.2015.06.036
PMCID: PMC4643665  PMID: 26168693
Cancer; Malignancy; Venous Thromboembolism; Pulmonary Embolism; Deep Vein Thrombosis; Thrombophilia
6.  Spread Spectrum Based Energy Efficient Collaborative Communication in Wireless Sensor Networks 
PLoS ONE  2016;11(7):e0159069.
Wireless sensor networks consist of resource limited devices. Most crucial of these resources is battery life, as in most applications like battle field or volcanic area monitoring, it is often impossible to replace or recharge the power source. This article presents an energy efficient collaborative communication system based on spread spectrum to achieve energy efficiency as well as immunity against jamming, natural interference, noise suppression and universal frequency reuse. Performance of the proposed system is evaluated using the received signal power, bit error rate (BER) and energy consumption. The results show a direct proportionality between the power gain and the number of collaborative nodes as well as BER and signal-to-noise ratio (Eb/N0). The analytical and simulation results of the proposed system are compared with SISO system. The comparison reveals that SISO perform better than collaborative communication in case of small distances whereas collaborative communication performs better than SISO in case of long distances. On the basis of these results it is safe to conclude that collaborative communication in wireless sensor networks using wideband systems improves the life time of nodes in the networks thereby prolonging the network’s life time.
doi:10.1371/journal.pone.0159069
PMCID: PMC4957781  PMID: 27447489
7.  Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) 
Shay, Jerry W. | Homma, Noriko | Zhou, Ruyun | Naseer, Muhammad Imran | Chaudhary, Adeel G. | Al-Qahtani, Mohammed | Hirokawa, Nobutaka | Goudarzi, Maryam | Fornace, Albert J. | Baeesa, Saleh | Hussain, Deema | Bangash, Mohammed | Alghamdi, Fahad | Schulten, Hans-Juergen | Carracedo, Angel | Khan, Ishaq | Qashqari, Hanadi | Madkhali, Nawal | Saka, Mohamad | Saini, Kulvinder S. | Jamal, Awatif | Al-Maghrabi, Jaudah | Abuzenadah, Adel | Chaudhary, Adeel | Al Qahtani, Mohammed | Damanhouri, Ghazi | Alkhatabi, Heba | Goodeve, Anne | Crookes, Laura | Niksic, Nikolas | Beauchamp, Nicholas | Abuzenadah, Adel M. | Vaught, Jim | Budowle, Bruce | Assidi, Mourad | Buhmeida, Abdelbaset | Al-Maghrabi, Jaudah | Buhmeida, Abdelbaset | Assidi, Mourad | Merdad, Leena | Kumar, Sudhir | Miura, Sayaka | Gomez, Karen | Carracedo, Angel | Rasool, Mahmood | Rebai, Ahmed | Karim, Sajjad | Eldin, Hend F. Nour | Abusamra, Heba | Alhathli, Elham M. | Salem, Nada | Al-Qahtani, Mohammed H. | Kumar, Sudhir | Faheem, Hossam | Agarwa, Ashok | Nieschlag, Eberhard | Wistuba, Joachim | Damm, Oliver S. | Beg, Mohd A. | Abdel-Meguid, Taha A. | Mosli, Hisham A. | Bajouh, Osama S. | Abuzenadah, Adel M. | Al-Qahtani, Mohammed H. | Coskun, Serdar | Abu-Elmagd, Muhammad | Buhmeida, Abdelbaset | Dallol, Ashraf | Al-Maghrabi, Jaudah | Hakamy, Sahar | Al-Qahtani, Wejdan | Al-Harbi, Asia | Hussain, Shireen | Assidi, Mourad | Al-Qahtani, Mohammed | Abuzenadah, Adel | Ozkosem, Burak | DuBois, Rick | Messaoudi, Safia S. | Dandana, Maryam T. | Mahjoub, Touhami | Almawi, Wassim Y. | Abdalla, S. | Al-Aama, M. Nabil | Elzawahry, Asmaa | Takahashi, Tsuyoshi | Mimaki, Sachiyo | Furukawa, Eisaku | Nakatsuka, Rie | Kurosaka, Isao | Nishigaki, Takahiko | Nakamura, Hiromi | Serada, Satoshi | Naka, Tetsuji | Hirota, Seiichi | Shibata, Tatsuhiro | Tsuchihara, Katsuya | Nishida, Toshirou | Kato, Mamoru | Mehmood, Sajid | Ashraf, Naeem Mahmood | Asif, Awais | Bilal, Muhammad | Mehmood, Malik Siddique | Hussain, Aadil | Jamal, Qazi Mohammad Sajid | Siddiqui, Mughees Uddin | Alzohairy, Mohammad A. | Al Karaawi, Mohammad A. | Nedjadi, Taoufik | Al-Maghrabi, Jaudah | Assidi, Mourad | Al-Khattabi, Heba | Al-Ammari, Adel | Al-Sayyad, Ahmed | Buhmeida, Abdelbaset | Al-Qahtani, Mohammed | Zitouni, Hédia | Raguema, Nozha | Ali, Marwa Ben | Malah, Wided | Lfalah, Raja | Almawi, Wassim | Mahjoub, Touhami | Elanbari, Mohammed | Ptitsyn, Andrey | Mahjoub, Sana | El Ghali, Rabeb | Achour, Bechir | Amor, Nidhal Ben | Assidi, Mourad | N’siri, Brahim | Morjani, Hamid | Nedjadi, Taoufik | Al-Ammari, Adel | Al-Sayyad, Ahmed | Salem, Nada | Azhar, Esam | Al-Maghrabi, Jaudah | Chayeb, Vera | Dendena, Maryam | Zitouni, Hedia | Zouari-Limayem, Khedija | Mahjoub, Touhami | Refaat, Bassem | Ashshi, Ahmed M. | Batwa, Sarah A. | Ramadan, Hazem | Awad, Amal | Ateya, Ahmed | El-Shemi, Adel Galal Ahmed | Ashshi, Ahmad | Basalamah, Mohammed | Na, Youjin | Yun, Chae-Ok | El-Shemi, Adel Galal Ahmed | Ashshi, Ahmad | Basalamah, Mohammed | Na, Youjin | Yun, Chae-Ok | El-Shemi, Adel Galal | Refaat, Bassem | Kensara, Osama | Abdelfattah, Amr | Dheeb, Batol Imran | Al-Halbosiy, Mohammed M. F. | Al lihabi, Rghad Kadhim | Khashman, Basim Mohammed | Laiche, Djouhri | Adeel, Chaudhary | Taoufik, Nedjadi | Al-Afghani, Hani | Łastowska, Maria | Al-Balool, Haya H. | Sheth, Harsh | Mercer, Emma | Coxhead, Jonathan M. | Redfern, Chris P. F. | Peters, Heiko | Burt, Alastair D. | Santibanez-Koref, Mauro | Bacon, Chris M. | Chesler, Louis | Rust, Alistair G. | Adams, David J. | Williamson, Daniel | Clifford, Steven C. | Jackson, Michael S. | Singh, Mala | Mansuri, Mohmmad Shoab | Jadeja, Shahnawaz D. | Patel, Hima | Marfatia, Yogesh S. | Begum, Rasheedunnisa | Mohamed, Amal M. | Kamel, Alaa K. | Helmy, Nivin A. | Hammad, Sayda A. | Kayed, Hesham F. | Shehab, Marwa I. | El Gerzawy, Assad | Ead, Maha M. | Ead, Ola M. | Mekkawy, Mona | Mazen, Innas | El-Ruby, Mona | Shahid, S. M. A. | Jamal, Qazi Mohammad Sajid | Arif, J. M. | Lohani, Mohtashim | Imen, Moumni | Leila, Chaouch | Houyem, Ouragini | Kais, Douzi | Fethi, Chaouachi Dorra Mellouli | Mohamed, Bejaoui | Salem, Abbes | Faggad, Areeg | Gebreslasie, Amanuel T. | Zaki, Hani Y. | Abdalla, Badreldin E. | AlShammari, Maha S. | Al-Ali, Rhaya | Al-Balawi, Nader | Al-Enazi, Mansour | Al-Muraikhi, Ali | Busaleh, Fadi | Al-Sahwan, Ali | Borgio, Francis | Sayyed, Abdulazeez | Al-Ali, Amein | Acharya, Sadananda | Zaki, Maha S. | El-Bassyouni, Hala T. | Shehab, Marwa I. | Elshal, Mohammed F. | M., Kaleemuddin | Aldahlawi, Alia M. | Saadah, Omar | McCoy, J. Philip | El-Tarras, Adel E. | Awad, Nabil S. | Alharthi, Abdulla A. | Ibrahim, Mohamed M. M. | Alsehli, Haneen S. | Dallol, Ashraf | Gari, Abdullah M. | Abbas, Mohammed M. | Kadam, Roaa A. | Gari, Mazen M. | Alkaff, Mohmmed H. | Abuzenadah, Adel M. | Gari, Mamdooh A. | Abusamra, Heba | Karim, Sajjad | eldin, Hend F. Nour | Alhathli, Elham M. | Salem, Nada | Kumar, Sudhir | Al-Qahtani, Mohammed H. | Moradi, Fatima A. | Rashidi, Omran M. | Awan, Zuhier A. | Kaya, Ibrahim Hamza | Al-Harazi, Olfat | Colak, Dilek | Alkousi, Nabila A. | Athanasopoulos, Takis | Bahmaid, Afnan O. | Alhwait, Etimad A. | Gari, Mamdooh A. | Alsehli, Haneen S. | Abbas, Mohammed M. | Alkaf, Mohammed H. | Kadam, Roaa | Dallol, Ashraf | Kalamegam, Gauthaman | Eldin, Hend F. Nour | Karim, Sajjad | Abusamra, Heba | Alhathli, Elham | Salem, Nada | Al-Qahtani, Mohammed H. | Kumar, Sudhir | Alsayed, Salma N. | Aljohani, Fawziah H. | Habeeb, Samaher M. | Almashali, Rawan A. | Basit, Sulman | Ahmed, Samia M. | Sharma, Rakesh | Agarwal, Ashok | Durairajanayagam, Damayanthi | Samanta, Luna | Abu-Elmagd, Muhammad | Abuzenadah, Adel M. | Sabanegh, Edmund S. | Assidi, Mourad | Al-Qahtani, Mohammed | Agarwal, Ashok | Sharma, Rakesh | Samanta, Luna | Durairajanayagam, Damayanthi | Assidi, Mourad | Abu-Elmagd, Muhammad | Al-Qahtani, Mohammed | Abuzenadah, Adel M. | Sabanegh, Edmund S. | Samanta, Luna | Agarwal, Ashok | Sharma, Rakesh | Cui, Zhihong | Assidi, Mourad | Abuzenadah, Adel M. | Abu-Elmagd, Muhammad | Al-Qahtani, Mohammed | Alboogmi, Alaa A. | Alansari, Nuha A. | Al-Quaiti, Maha M. | Ashgan, Fai T. | Bandah, Afnan | Jamal, Hasan S. | Rozi, Abdullraheem | Mirza, Zeenat | Abuzenadah, Adel M. | Karim, Sajjad | Al-Qahtani, Mohammed H. | Karim, Sajjad | Schulten, Hans-Juergen | Al Sayyad, Ahmad J. | Farsi, Hasan M. A. | Al-Maghrabi, Jaudah A. | Mirza, Zeenat | Alotibi, Reem | Al-Ahmadi, Alaa | Alansari, Nuha A. | Albogmi, Alaa A. | Al-Quaiti, Maha M. | Ashgan, Fai T. | Bandah, Afnan | Al-Qahtani, Mohammed H. | Ebiya, Rasha A. | Darwish, Samia M. | Montaser, Metwally M. | Abusamra, Heba | Bajic, Vladimir B. | Al-Maghrabi, Jaudah | Gomaa, Wafaey | Hanbazazh, Mehenaz | Al-Ahwal, Mahmoud | Al-Harbi, Asia | Al-Qahtani, Wejdan | Hakamy, Saher | Baba, Ghali | Buhmeida, Abdelbaset | Al-Qahtani, Mohammed | Al-Maghrabi, Jaudah | Al-Harbi, Abdullah | Al-Ahwal, Mahmoud | Al-Harbi, Asia | Al-Qahtani, Wejdan | Hakamy, Sahar | Baba, Ghalia | Buhmeida, Abdelbaset | Al-Qahtani, Mohammed | Alhathli, Elham M. | Karim, Sajjad | Salem, Nada | Eldin, Hend Nour | Abusamra, Heba | Kumar, Sudhir | Al-Qahtani, Mohammed H. | Alyamani, Aisha A. | Kalamegam, Gauthaman | Alhwait, Etimad A. | Gari, Mamdooh A. | Abbas, Mohammed M. | Alkaf, Mohammed H. | Alsehli, Haneen S. | Kadam, Roaa A. | Al-Qahtani, Mohammed | Gadi, Rawan | Buhmeida, Abdelbaset | Assidi, Mourad | Chaudhary, Adeel | Merdad, Leena | Alfakeeh, Saadiah M. | Alhwait, Etimad A. | Gari, Mamdooh A. | Abbas, Mohammed M. | Alkaf, Mohammed H. | Alsehli, Haneen S. | Kadam, Roaa | Kalamegam, Gauthaman | Ghazala, Rubi | Mathew, Shilu | Hamed, M. Haroon | Assidi, Mourad | Al-Qahtani, Mohammed | Qadri, Ishtiaq | Mathew, Shilu | Mira, Lobna | Shaabad, Manal | Hussain, Shireen | Assidi, Mourad | Abu-Elmagd, Muhammad | Al-Qahtani, Mohammed | Mathew, Shilu | Shaabad, Manal | Mira, Lobna | Hussain, Shireen | Assidi, Mourad | Abu-Elmagd, Muhammad | Al-Qahtani, Mohammed | Rebai, Ahmed | Assidi, Mourad | Buhmeida, Abdelbaset | Abu-Elmagd, Muhammad | Dallol, Ashraf | Shay, Jerry W. | Almutairi, Mikhlid H. | Ambers, Angie | Churchill, Jennifer | King, Jonathan | Stoljarova, Monika | Gill-King, Harrell | Assidi, Mourad | Abu-Elmagd, Muhammad | Buhmeida, Abdelbaset | Al-Qatani, Muhammad | Budowle, Bruce | Abu-Elmagd, Muhammad | Ahmed, Farid | Dallol, Ashraf | Assidi, Mourad | Almagd, Taha Abo | Hakamy, Sahar | Agarwal, Ashok | Al-Qahtani, Muhammad | Abuzenadah, Adel | Karim, Sajjad | Schulten, Hans-Juergen | Al Sayyad, Ahmad J. | Farsi, Hasan M. A. | Al-Maghrabi, Jaudah A. | Buhmaida, Abdelbaset | Mirza, Zeenat | Alotibi, Reem | Al-Ahmadi, Alaa | Alansari, Nuha A. | Albogmi, Alaa A. | Al-Quaiti, Maha M. | Ashgan, Fai T. | Bandah, Afnan | Al-Qahtani, Mohammed H. | Satar, Rukhsana | Rasool, Mahmood | Ahmad, Waseem | Nazam, Nazia | Lone, Mohamad I. | Naseer, Muhammad I. | Jamal, Mohammad S. | Zaidi, Syed K. | Pushparaj, Peter N. | Jafri, Mohammad A. | Ansari, Shakeel A. | Alqahtani, Mohammed H. | Bashier, Hanan | Al Qahtani, Abrar | Mathew, Shilu | Nour, Amal M. | Alkhatabi, Heba | Zenadah, Adel M. Abu | Buhmeida, Abdelbaset | Assidi, Mourad | Al Qahtani, Muhammed | Faheem, Muhammad | Mathew, Shilu | Mathew, Shiny | Pushparaj, Peter Natesan | Al-Qahtani, Mohammad H. | Alhadrami, Hani A. | Dallol, Ashraf | Abuzenadah, Adel | Hussein, Ibtessam R. | Chaudhary, Adeel G. | Bader, Rima S. | Bassiouni, Randa | Alquaiti, Maha | Ashgan, Fai | Schulten, Hans | Alama, Mohamed Nabil | Al Qahtani, Mohammad H. | Lone, Mohammad I. | Nizam, Nazia | Ahmad, Waseem | Jafri, Mohammad A. | Rasool, Mahmood | Ansari, Shakeel A. | Al-Qahtani, Muhammed H. | Alshihri, Eradah | Abu-Elmagd, Muhammad | Alharbi, Lina | Assidi, Mourad | Al-Qahtani, Mohammed | Mathew, Shilu | Natesan, Peter Pushparaj | Al Qahtani, Muhammed | Kalamegam, Gauthaman | Pushparaj, Peter Natesan | Khan, Fazal | Kadam, Roaa | Ahmed, Farid | Assidi, Mourad | Sait, Khalid Hussain Wali | Anfinan, Nisreen | Al Qahtani, Mohammed | Naseer, Muhammad I. | Chaudhary, Adeel G. | Jamal, Mohammad S. | Mathew, Shilu | Mira, Lobna S. | Pushparaj, Peter N. | Ansari, Shakeel A. | Rasool, Mahmood | AlQahtani, Mohammed H. | Naseer, Muhammad I. | Chaudhary, Adeel G. | Mathew, Shilu | Mira, Lobna S. | Jamal, Mohammad S. | Sogaty, Sameera | Bassiouni, Randa I. | Rasool, Mahmood | AlQahtani, Mohammed H. | Rasool, Mahmood | Ansari, Shakeel A. | Jamal, Mohammad S. | Pushparaj, Peter N. | Sibiani, Abdulrahman M. S. | Ahmad, Waseem | Buhmeida, Abdelbaset | Jafri, Mohammad A. | Warsi, Mohiuddin K. | Naseer, Muhammad I. | Al-Qahtani, Mohammed H. | Rubi | Kumar, Kundan | Naqvi, Ahmad A. T. | Ahmad, Faizan | Hassan, Md I. | Jamal, Mohammad S. | Rasool, Mahmood | AlQahtani, Mohammed H. | Ali, Ashraf | Jarullah, Jummanah | Rasool, Mahmood | Buhmeida, Abdelbasit | Khan, Shahida | Abdussami, Ghufrana | Mahfooz, Maryam | Kamal, Mohammad A. | Damanhouri, Ghazi A. | Jamal, Mohammad S. | Jarullah, Bushra | Jarullah, Jummanah | Jarullah, Mohammad S. S. | Ali, Ashraf | Rasool, Mahmood | Jamal, Mohammad S. | Assidi, Mourad | Abu-Elmagd, Muhammad | Bajouh, Osama | Pushparaj, Peter Natesan | Al-Qahtani, Mohammed | Abuzenadah, Adel | Jamal, Mohammad S. | Jarullah, Jummanah | Mathkoor, Abdulah E. A. | Alsalmi, Hashim M. A. | Oun, Anas M. M. | Damanhauri, Ghazi A. | Rasool, Mahmood | AlQahtani, Mohammed H. | Naseer, Muhammad I. | Rasool, Mahmood | Sogaty, Sameera | Chudhary, Adeel G. | Abutalib, Yousif A. | Merico, Daniele | Walker, Susan | Marshall, Christian R. | Zarrei, Mehdi | Scherer, Stephen W. | Al-Qahtani, Mohammad H. | Naseer, Muhammad I. | Faheem, Muhammad | Chaudhary, Adeel G. | Rasool, Mahmood | Kalamegam, Gauthaman | Ashgan, Fai Talal | Assidi, Mourad | Ahmed, Farid | Zaidi, Syed Kashif | Jan, Mohammed M. | Al-Qahtani, Mohammad H. | Al-Zahrani, Maryam | Lary, Sahira | Hakamy, Sahar | Dallol, Ashraf | Al-Ahwal, Mahmoud | Al-Maghrabi, Jaudah | Dermitzakis, Emmanuel | Abuzenadah, Adel | Buhmeida, Abdelbaset | Al-Qahtani, Mohammed | Al-refai, Abeer A. | Saleh, Mona | Yassien, Rehab I. | Kamel, Mahmmoud | Habeb, Rabab M. | Filimban, Najlaa | Dallol, Ashraf | Ghannam, Nadia | Al-Qahtani, Mohammed | Abuzenadah, Adel Mohammed | Bibi, Fehmida | Akhtar, Sana | Azhar, Esam I. | Yasir, Muhammad | Nasser, Muhammad I. | Jiman-Fatani, Asif A. | Sawan, Ali | Lahzah, Ruaa A. | Ali, Asho | Hassan, Syed A. | Hasnain, Seyed E. | Tayubi, Iftikhar A. | Abujabal, Hamza A. | Magrabi, Alaa O. | Khan, Fazal | Kalamegam, Gauthaman | Pushparaj, Peter Natesan | Abuzenada, Adel | Kumosani, Taha Abduallah | Barbour, Elie | Al-Qahtani, Mohammed | Shabaad, Manal | Mathew, Shilu | Dallol, Ashraf | Merdad, Adnan | Buhmeida, Abdelbaset | Al-Qahtani, Mohammed | Assidi, Mourad | Abu-Elmagd, Muhammad | Gauthaman, Kalamegam | Gari, Mamdooh | Chaudhary, Adeel | Abuzenadah, Adel | Pushparaj, Peter Natesan | Al-Qahtani, Mohammed | Hassan, Syed A. | Tayubi, Iftikhar A. | Aljahdali, Hani M. A. | Al Nono, Reham | Gari, Mamdooh | Alsehli, Haneen | Ahmed, Farid | Abbas, Mohammed | Kalamegam, Gauthaman | Al-Qahtani, Mohammed | Mathew, Shilu | Khan, Fazal | Rasool, Mahmood | Jamal, Mohammed Sarwar | Naseer, Muhammad Imran | Mirza, Zeenat | Karim, Sajjad | Ansari, Shakeel | Assidi, Mourad | Kalamegam, Gauthaman | Gari, Mamdooh | Chaudhary, Adeel | Abuzenadah, Adel | Pushparaj, Peter Natesan | Al-Qahtani, Mohammed | Abu-Elmagd, Muhammad | Kalamegam, Gauthaman | Kadam, Roaa | Alghamdi, Mansour A. | Shamy, Magdy | Costa, Max | Khoder, Mamdouh I. | Assidi, Mourad | Pushparaj, Peter Natesan | Gari, Mamdooh | Al-Qahtani, Mohammed | Kharrat, Najla | Belmabrouk, Sabrine | Abdelhedi, Rania | Benmarzoug, Riadh | Assidi, Mourad | Al Qahtani, Mohammed H. | Rebai, Ahmed | Dhamanhouri, Ghazi | Pushparaj, Peter Natesan | Noorwali, Abdelwahab | Alwasiyah, Mohammad Khalid | Bahamaid, Afnan | Alfakeeh, Saadiah | Alyamani, Aisha | Alsehli, Haneen | Abbas, Mohammed | Gari, Mamdooh | Mobasheri, Ali | Kalamegam, Gauthaman | Al-Qahtani, Mohammed | Faheem, Muhammad | Mathew, Shilu | Pushparaj, Peter Natesan | Al-Qahtani, Mohammad H. | Mathew, Shilu | Faheem, Muhammad | Mathew, Shiny | Pushparaj, Peter Natesan | Al-Qahtani, Mohammad H. | Jamal, Mohammad Sarwar | Zaidi, Syed Kashif | Khan, Raziuddin | Bhatia, Kanchan | Al-Qahtani, Mohammed H. | Ahmad, Saif | AslamTayubi, Iftikhar | Tripathi, Manish | Hassan, Syed Asif | Shrivastava, Rahul | Tayubi, Iftikhar A. | Hassan, Syed | Abujabal, Hamza A. S. | Shah, Ishani | Jarullah, Bushra | Jamal, Mohammad S. | Jarullah, Jummanah | Sheikh, Ishfaq A. | Ahmad, Ejaz | Jamal, Mohammad S. | Rehan, Mohd | Abu-Elmagd, Muhammad | Tayubi, Iftikhar A. | AlBasri, Samera F. | Bajouh, Osama S. | Turki, Rola F. | Abuzenadah, Adel M. | Damanhouri, Ghazi A. | Beg, Mohd A. | Al-Qahtani, Mohammed | Hammoudah, Sahar A. F. | AlHarbi, Khalid M. | El-Attar, Lama M. | Darwish, Ahmed M. Z. | Ibrahim, Sara M. | Dallol, Ashraf | Choudhry, Hani | Abuzenadah, Adel | Awlia, Jalaludden | Chaudhary, Adeel | Ahmed, Farid | Al-Qahtani, Mohammed | Jafri, Mohammad A. | Abu-Elmagd, Muhammad | Assidi, Mourad | Al-Qahtani, Mohammed | khan, Imran | Yasir, Muhammad | Azhar, Esam I. | Al-basri, Sameera | Barbour, Elie | Kumosani, Taha | Khan, Fazal | Kalamegam, Gauthaman | Pushparaj, Peter Natesan | Abuzenada, Adel | Kumosani, Taha Abduallah | Barbour, Elie | EL Sayed, Heba M. | Hafez, Eman A. | Schulten, Hans-Juergen | Elaimi, Aisha Hassan | Hussein, Ibtessam R. | Bassiouni, Randa Ibrahim | Alwasiyah, Mohammad Khalid | Wintle, Richard F. | Chaudhary, Adeel | Scherer, Stephen W. | Al-Qahtani, Mohammed | Mirza, Zeenat | Pillai, Vikram Gopalakrishna | Karim, Sajjad | Sharma, Sujata | Kaur, Punit | Srinivasan, Alagiri | Singh, Tej P. | Al-Qahtani, Mohammed | Alotibi, Reem | Al-Ahmadi, Alaa | Al-Adwani, Fatima | Hussein, Deema | Karim, Sajjad | Al-Sharif, Mona | Jamal, Awatif | Al-Ghamdi, Fahad | Al-Maghrabi, Jaudah | Baeesa, Saleh S. | Bangash, Mohammed | Chaudhary, Adeel | Schulten, Hans-Juergen | Al-Qahtani, Mohammed | Faheem, Muhammad | Pushparaj, Peter Natesan | Mathew, Shilu | Kumosani, Taha Abdullah | Kalamegam, Gauthaman | Al-Qahtani, Mohammed | Al-Allaf, Faisal A. | Abduljaleel, Zainularifeen | Alashwal, Abdullah | Taher, Mohiuddin M. | Bouazzaoui, Abdellatif | Abalkhail, Halah | Ba-Hammam, Faisal A. | Athar, Mohammad | Kalamegam, Gauthaman | Pushparaj, Peter Natesan | Abu-Elmagd, Muhammad | Ahmed, Farid | Sait, Khalid HussainWali | Anfinan, Nisreen | Gari, Mamdooh | Chaudhary, Adeel | Abuzenadah, Adel | Assidi, Mourad | Al-Qahtani, Mohammed | Mami, Naira Ben | Haffani, Yosr Z. | Medhioub, Mouna | Hamzaoui, Lamine | Cherif, Ameur | Azouz, Msadok | Kalamegam, Gauthaman | Khan, Fazal | Mathew, Shilu | Nasser, Mohammed Imran | Rasool, Mahmood | Ahmed, Farid | Pushparaj, Peter Natesan | Al-Qahtani, Mohammed | Turkistany, Shereen A. | Al-harbi, Lina M. | Dallol, Ashraf | Sabir, Jamal | Chaudhary, Adeel | Abuzenadah, Adel | Al-Madoudi, Basmah | Al-Aslani, Bayan | Al-Harbi, Khulud | Al-Jahdali, Rwan | Qudaih, Hanadi | Al Hamzy, Emad | Assidi, Mourad | Al Qahtani, Mohammed | Ilyas, Asad M. | Ahmed, Youssri | Gari, Mamdooh | Ahmed, Farid | Alqahtani, Mohammed | Salem, Nada | Karim, Sajjad | Alhathli, Elham M. | Abusamra, Heba | Eldin, Hend F. Nour | Al-Qahtani, Mohammed H. | Kumar, Sudhir | Al-Adwani, Fatima | Hussein, Deema | Al-Sharif, Mona | Jamal, Awatif | Al-Ghamdi, Fahad | Al-Maghrabi, Jaudah | Baeesa, Saleh S. | Bangash, Mohammed | Chaudhary, Adeel | Al-Qahtani, Mohammed | Schulten, Hans-Juergen | Alamandi, Alaa | Alotibi, Reem | Hussein, Deema | Karim, Sajjad | Al-Maghrabi, Jaudah | Al-Ghamdi, Fahad | Jamal, Awatif | Baeesa, Saleh S. | Bangash, Mohammed | Chaudhary, Adeel | Schulten, Hans-Juergen | Al-Qahtani, Mohammed | Subhi, Ohoud | Bagatian, Nadia | Karim, Sajjad | Al-Johari, Adel | Al-Hamour, Osman Abdel | Al-Aradati, Hosam | Al-Mutawa, Abdulmonem | Al-Mashat, Faisal | Al-Maghrabi, Jaudah | Schulten, Hans-Juergen | Al-Qahtani, Mohammad | Bagatian, Nadia | Subhi, Ohoud | Karim, Sajjad | Al-Johari, Adel | Al-Hamour, Osman Abdel | Al-Mutawa, Abdulmonem | Al-Aradati, Hosam | Al-Mashat, Faisal | Al-Qahtani, Mohammad | Schulten, Hans-Juergen | Al-Maghrabi, Jaudah | shah, Muhammad W. | Yasir, Muhammad | Azhar, Esam I | Al-Masoodi, Saad | Haffani, Yosr Z. | Azouz, Msadok | Khamla, Emna | Jlassi, Chaima | Masmoudi, Ahmed S. | Cherif, Ameur | Belbahri, Lassaad | Al-Khayyat, Shadi | Attas, Roba | Abu-Sanad, Atlal | Abuzinadah, Mohammed | Merdad, Adnan | Dallol, Ashraf | Chaudhary, Adeel | Al-Qahtani, Mohammed | Abuzenadah, Adel | Bouazzi, Habib | Trujillo, Carlos | Alwasiyah, Mohammad Khalid | Al-Qahtani, Mohammed | Alotaibi, Maha | Nassir, Rami | Sheikh, Ishfaq A. | Kamal, Mohammad A. | Jiffri, Essam H. | Ashraf, Ghulam M. | Beg, Mohd A. | Aziz, Mohammad A. | Ali, Rizwan | Rasool, Mahmood | Jamal, Mohammad S. | Samman, Nusaibah | Abdussami, Ghufrana | Periyasamy, Sathish | Warsi, Mohiuddin K. | Aldress, Mohammed | Al Otaibi, Majed | Al Yousef, Zeyad | Boudjelal, Mohamed | Buhmeida, Abdelbasit | Al-Qahtani, Mohammed H. | AlAbdulkarim, Ibrahim | Ghazala, Rubi | Mathew, Shilu | Hamed, M. Haroon | Assidi, Mourad | Al-Qahtani, Mohammed | Qadri, Ishtiaq | Sheikh, Ishfaq A. | Abu-Elmagd, Muhammad | Turki, Rola F. | Damanhouri, Ghazi A. | Beg, Mohd A. | Suhail, Mohd | Qureshi, Abid | Jamal, Adil | Pushparaj, Peter Natesan | Al-Qahtani, Mohammad | Qadri, Ishtiaq | El-Readi, Mahmoud Z. | Eid, Safaa Y. | Wink, Michael | Isa, Ahmed M. | Alnuaim, Lulu | Almutawa, Johara | Abu-Rafae, Basim | Alasiri, Saleh | Binsaleh, Saleh | Nazam, Nazia
BMC Genomics  2016;17(Suppl 6):487.
Table of contents
O1 Regulation of genes by telomere length over long distances
Jerry W. Shay
O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy
Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa
O3 Integration of metagenomics and metabolomics in gut microbiome research
Maryam Goudarzi, Albert J. Fornace Jr.
O4 A unique integrated system to discern pathogenesis of central nervous system tumors
Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri
O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis
Heba Alkhatabi
O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service
Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp
O7 Targeted sequencing panels and their utilization in personalized medicine
Adel M. Abuzenadah
O8 International biobanking in the era of precision medicine
Jim Vaught
O9 Biobank and biodata for clinical and forensic applications
Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida
O10 Tissue microarray technique: a powerful adjunct tool for molecular profiling of solid tumors
Jaudah Al-Maghrabi
O11 The CEGMR biobanking unit: achievements, challenges and future plans
Abdelbaset Buhmeida, Mourad Assidi, Leena Merdad
O12 Phylomedicine of tumors
Sudhir Kumar, Sayaka Miura, Karen Gomez
O13 Clinical implementation of pharmacogenomics for colorectal cancer treatment
Angel Carracedo, Mahmood Rasool
O14 From association to causality: translation of GWAS findings for genomic medicine
Ahmed Rebai
O15 E-GRASP: an interactive database and web application for efficient analysis of disease-associated genetic information
Sajjad Karim, Hend F Nour Eldin, Heba Abusamra, Elham M Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar
O16 The supercomputer facility “AZIZ” at KAU: utility and future prospects
Hossam Faheem
O17 New research into the causes of male infertility
Ashok Agarwa
O18 The Klinefelter syndrome: recent progress in pathophysiology and management
Eberhard Nieschlag, Joachim Wistuba, Oliver S. Damm, Mohd A. Beg, Taha A. Abdel-Meguid, Hisham A. Mosli, Osama S. Bajouh, Adel M. Abuzenadah, Mohammed H. Al-Qahtani
O19 A new look to reproductive medicine in the era of genomics
Serdar Coskun
P1 Wnt signalling receptors expression in Saudi breast cancer patients
Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Ashraf Dallol, Jaudah Al-Maghrabi, Sahar Hakamy, Wejdan Al-Qahtani, Asia Al-Harbi, Shireen Hussain, Mourad Assidi, Mohammed Al-Qahtani, Adel Abuzenadah
P2 Analysis of oxidative stress interactome during spermatogenesis: a systems biology approach to reproduction
Burak Ozkosem, Rick DuBois
P3 Interleukin-18 gene variants are strongly associated with idiopathic recurrent pregnancy loss.
Safia S Messaoudi, Maryam T Dandana, Touhami Mahjoub, Wassim Y Almawi
P4 Effect of environmental factors on gene-gene and gene-environment reactions: model and theoretical study applied to environmental interventions using genotype
S. Abdalla, M. Nabil Al-Aama
P5 Genomics and transcriptomic analysis of imatinib resistance in gastrointestinal stromal tumor
Asmaa Elzawahry, Tsuyoshi Takahashi, Sachiyo Mimaki, Eisaku Furukawa, Rie Nakatsuka, Isao Kurosaka, Takahiko Nishigaki, Hiromi Nakamura, Satoshi Serada, Tetsuji Naka, Seiichi Hirota, Tatsuhiro Shibata, Katsuya Tsuchihara, Toshirou Nishida, Mamoru Kato
P6 In-Silico analysis of putative HCV epitopes against Pakistani human leukocyte antigen background: an approach towards development of future vaccines for Pakistani population
Sajid Mehmood, Naeem Mahmood Ashraf, Awais Asif, Muhammad Bilal, Malik Siddique Mehmood, Aadil Hussain
P7 Inhibition of AChE and BuChE with the natural compounds of Bacopa monerri for the treatment of Alzheimer’s disease: a bioinformatics approach
Qazi Mohammad Sajid Jamal, Mughees Uddin Siddiqui, Mohammad A. Alzohairy, Mohammad A. Al Karaawi
P8 Her2 expression in urothelial cell carcinoma of the bladder in Saudi Arabia
Taoufik Nedjadi, Jaudah Al-Maghrabi, Mourad Assidi, Heba Al-Khattabi, Adel Al-Ammari, Ahmed Al-Sayyad, Abdelbaset Buhmeida, Mohammed Al-Qahtani
P9 Association of angiotensinogen single nucleotide polymorphisms with Preeclampsia in patients from North Africa
Hédia Zitouni, Nozha Raguema, Marwa Ben Ali, Wided Malah, Raja Lfalah, Wassim Almawi, Touhami Mahjoub
P10 Systems biology analysis reveals relations between normal skin, benign nevi and malignant melanoma
Mohammed Elanbari, Andrey Ptitsyn
P11 The apoptotic effect of thymoquinone in Jurkat cells
Sana Mahjoub, Rabeb El Ghali, Bechir Achour, Nidhal Ben Amor, Mourad Assidi, Brahim N'siri, Hamid Morjani
P12 Sonic hedgehog contributes in bladder cancer invasion in Saudi Arabia
Taoufik Nedjadi, Adel Al-Ammari, Ahmed Al-Sayyad, Nada Salem, Esam Azhar, Jaudah Al-Maghrabi
P13 Association of Interleukin 18 gene promoter polymorphisms - 607A/C and -137 G/C with colorectal cancer onset in a sample of Tunisian population
Vera Chayeb, Maryam Dendena, Hedia Zitouni, Khedija Zouari-Limayem, Touhami Mahjoub
P14 Pathological expression of interleukin-6, -11, leukemia inhibitory factor and their receptors in tubal gestation with and without tubal cytomegalovirus infection
Bassem Refaat, Ahmed M Ashshi, Sarah A Batwa
P15 Phenotypic and genetic profiling of avian pathogenic and human diarrhegenic Escherichia coli in Egypt
Hazem Ramadan, Amal Awad, Ahmed Ateya
P16 Cancer-targeting dual gene virotherapy as a promising therapeutic strategy for treatment of hepatocellular carcinoma
Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok YUN
P17 Cancer dual gene therapy with oncolytic adenoviruses expressing TRAIL and IL-12 transgenes markedly eradicated human hepatocellular carcinoma both in vitro and in vivo
Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok Yun
P18 Therapy with paricalcitol attenuates tumor growth and augments tumoricidal and anti-oncogenic effects of 5-fluorouracil on animal model of colon cancer
Adel Galal El-Shemi, Bassem Refaat, Osama Kensara, Amr Abdelfattah
P19 The effects of Rubus idaeus extract on normal human lymphocytes and cancer cell line
Batol Imran Dheeb, Mohammed M. F. Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman
P20 Etanercept, a TNF-alpha inhibitor, alleviates mechanical hypersensitivity and spontaneous pain in a rat model of chemotherapy-induced neuropathic pain
Djouhri, Laiche, Chaudhary Adeel, Nedjadi, Taoufik
P21 Sleeping beauty mutagenesis system identified genes and neuronal transcription factor network involved in pediatric solid tumour (medulloblastoma)
Hani Al-Afghani, Maria Łastowska, Haya H Al-Balool, Harsh Sheth, Emma Mercer, Jonathan M Coxhead, Chris PF Redfern, Heiko Peters, Alastair D Burt, Mauro Santibanez-Koref, Chris M Bacon, Louis Chesler, Alistair G Rust, David J Adams, Daniel Williamson, Steven C Clifford, Michael S Jackson
P22 Involvement of interleukin-1 in vitiligo pathogenesis
Mala Singh, Mohmmad Shoab Mansuri, Shahnawaz D. Jadeja, Hima Patel, Yogesh S. Marfatia, Rasheedunnisa Begum
P23 Cytogenetics abnormalities in 12,884 referred population for chromosomal analysis and the role of FISH in refining the diagnosis (cytogenetic experience 2004-2013)
Amal M Mohamed, Alaa K Kamel, Nivin A Helmy, Sayda A Hammad, Hesham F Kayed, Marwa I Shehab, Assad El Gerzawy, Maha M. Ead, Ola M Ead, Mona Mekkawy, Innas Mazen, Mona El-Ruby
P24 Analysis of binding properties of angiotensin-converting enzyme 2 through in silico method
S. M. A. Shahid, Qazi Mohammad Sajid Jamal, J. M. Arif, Mohtashim Lohani
P25 Relationship of genetics markers cis and trans to the β-S globin gene with fetal hemoglobin expression in Tunisian sickle cell patients
Moumni Imen, Chaouch Leila, Ouragini Houyem, Douzi Kais, Chaouachi Dorra Mellouli Fethi, Bejaoui Mohamed, Abbes Salem
P26 Analysis of estrogen receptor alpha gene polymorphisms in breast cancer: link to genetic predisposition in Sudanese women
Areeg Faggad, Amanuel T Gebreslasie, Hani Y Zaki, Badreldin E Abdalla
P27 KCNQI gene polymorphism and its association with CVD and T2DM in the Saudi population
Maha S AlShammari, Rhaya Al-Ali, Nader Al-Balawi , Mansour Al-Enazi, Ali Al-Muraikhi, Fadi Busaleh, Ali Al-Sahwan, Francis Borgio, Abdulazeez Sayyed, Amein Al-Ali, Sadananda Acharya
P28 Clinical, neuroimaging and cytogenetic study of a patient with microcephaly capillary malformation syndrome
Maha S. Zaki, Hala T. El-Bassyouni, Marwa I. Shehab
P29 Altered expression of CD200R1 on dendritic cells of patients with inflammatory bowel diseases: in silico investigations and clinical evaluations
Mohammed F. Elshal, Kaleemuddin M., Alia M. Aldahlawi, Omar Saadah,
J. Philip McCoy
P30 Development of real time PCR diagnostic protocol specific for the Saudi Arabian H1N1 viral strains
Adel E El-Tarras, Nabil S Awad, Abdulla A Alharthi, Mohamed M M Ibrahim
P31 Identification of novel genetic variations affecting Osteoarthritis patients
Haneen S Alsehli, Ashraf Dallol, Abdullah M Gari, Mohammed M Abbas, Roaa A Kadam, Mazen M. Gari, Mohmmed H Alkaff, Adel M Abuzenadah, Mamdooh A Gari
P32 An integrated database of GWAS SNVs and their evolutionary properties
Heba Abusamra, Sajjad Karim, Hend F Nour eldin, Elham M Alhathli, Nada Salem, Sudhir Kumar, Mohammed H Al-Qahtani
P33 Familial hypercholesterolemia in Saudi Arabia: prime time for a national registry and genetic analysis
Fatima A. Moradi, Omran M. Rashidi, Zuhier A. Awan
P34 Comparative genomics and network-based analyses of early hepatocellular carcinoma
Ibrahim Hamza Kaya, Olfat Al-Harazi, Dilek Colak
P35 A TALEN-based oncolytic viral vector approach to knock out ABCB1 gene mediated chemoresistance in cancer stem cells
Nabila A Alkousi, Takis Athanasopoulos
P36 Cartilage differentiation and gene expression of synovial fluid mesenchymal stem cells derived from osteoarthritis patients
Afnan O Bahmaid, Etimad A Alhwait, Mamdooh A Gari, Haneen S Alsehli, Mohammed M Abbas, Mohammed H Alkaf, Roaa Kadam, Ashraf Dallol, Gauthaman Kalamegam
P37 E-GRASP: Adding an evolutionary component to the genome-wide repository of associations (GRASP) resource
Hend F Nour Eldin, Sajjad Karim, Heba Abusamra, Elham Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar
P38 Screening of AGL gene mutation in Saudi family with glycogen storage disease Type III
Salma N Alsayed, Fawziah H Aljohani, Samaher M Habeeb, Rawan A Almashali, Sulman Basit, Samia M Ahmed
P39 High throughput proteomic data suggest modulation of cAMP dependent protein kinase A and mitochondrial function in infertile patients with varicocele
Rakesh Sharma, Ashok Agarwal, Damayanthi Durairajanayagam, Luna Samanta, Muhammad Abu-Elmagd, Adel M. Abuzenadah, Edmund S. Sabanegh, Mourad Assidi, Mohammed Al-Qahtani
P40 Significant protein profile alterations in men with primary and secondary infertility
Ashok Agarwal, Rakesh Sharma, Luna Samanta, Damayanthi Durairajanayagam, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani, Adel M. Abuzenadah, Edmund S. Sabanegh
P41 Spermatozoa maturation in infertile patients involves compromised expression of heat shock proteins
Luna Samanta, Ashok Agarwal, Rakesh Sharma, Zhihong Cui, Mourad Assidi, Adel M. Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani
P42 Array comparative genomic hybridization approach to search genomic answers for spontaneous recurrent abortion in Saudi Arabia
Alaa A Alboogmi, Nuha A Alansari, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Hasan S Jamal, Abdullraheem Rozi, Zeenat Mirza, Adel M Abuzenadah, Sajjad Karim, Mohammed H Al-Qahtani
P43 Global gene expression profiling of Saudi kidney cancer patients
Sajjad Karim, Hans-Juergen Schulten, Ahmad J Al Sayyad, Hasan MA Farsi, Jaudah A Al-Maghrabi, Zeenat Mirza, Reem Alotibi, Alaa Al-Ahmadi, Nuha A Alansari, Alaa A Albogmi, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Mohammed H Al-Qahtani
P44 Downregulated StAR gene and male reproductive dysfunction caused by nifedipine and ethosuximide
Rasha A Ebiya, Samia M Darwish, Metwally M. Montaser
P45 Clustering based gene expression feature selection method: A computational approach to enrich the classifier efficiency of differentially expressed genes
Heba Abusamra, Vladimir B. Bajic
P46 Prognostic significance of Osteopontin expression profile in colorectal carcinoma
Jaudah Al-Maghrabi, Wafaey Gomaa, Mehenaz Hanbazazh, Mahmoud Al-Ahwal, Asia Al-Harbi, Wejdan Al-Qahtani, Saher Hakamy, Ghali Baba, Abdelbaset Buhmeida, Mohammed Al-Qahtani
P47 High Glypican-3 expression pattern predicts longer disease-specific survival in colorectal carcinoma
Jaudah Al-Maghrabi, Abdullah Al-Harbi, Mahmoud Al-Ahwal, Asia Al-Harbi, Wejdan Al-Qahtani, Sahar Hakamy, Ghalia Baba, Abdelbaset Buhmeida, Mohammed Al-Qahtani
P48 An evolutionary re-assessment of GWAS single nucleotide variants implicated in the Cholesterol traits
Elham M Alhathli, Sajjad Karim, Nada Salem, Hend Nour Eldin, Heba Abusamra, Sudhir Kumar, Mohammed H Al-Qahtani
P49 Derivation and characterization of human Wharton’s jelly stem cells (hWJSCs) in vitro for future therapeutic applications
Aisha A Alyamani, Gauthaman Kalamegam, Etimad A Alhwait, Mamdooh A Gari, Mohammed M Abbas, Mohammed H Alkaf, Haneen S Alsehli, Roaa A Kadam, Mohammed Al-Qahtani
P50 Attitudes of healthcare students toward biomedical research in the post-genomic era
Rawan Gadi, Abdelbaset Buhmeida, Mourad Assidi , Adeel Chaudhary, Leena Merdad
P51 Evaluation of the immunomodulatory effects of thymoquinone on human bone marrow mesenchymal stem cells (BM-MSCs) from osteoarthritic patients
Saadiah M Alfakeeh, Etimad A Alhwait, Mamdooh A Gari, Mohammed M Abbas, Mohammed H Alkaf, Haneen S Alsehli, Roaa Kadam, Gauthaman Kalamegam
P52 Implication of IL-10 and IL-28 polymorphism with successful anti-HCV therapy and viral clearance
Rubi Ghazala, Shilu Mathew, M.Haroon Hamed, Mourad Assidi, Mohammed Al-Qahtani, Ishtiaq Qadri
P53 Selection of flavonoids against obesity protein (FTO) using in silico and in vitro approaches
Shilu Mathew, Lobna Mira, Manal Shaabad, Shireen Hussain, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani
P54 Computational selection and in vitro validation of flavonoids as new antidepressant agents
Shilu Mathew, Manal Shaabad, Lobna Mira, Shireen Hussain, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani
P55 In Silico prediction and prioritization of aging candidate genes associated with
progressive telomere shortening
Ahmed Rebai, Mourad Assidi, Abdelbaset Buhmeida, Muhammad Abu-Elmagd, Ashraf Dallol, Jerry W Shay
P56 Identification of new cancer testis antigen genes in diverse types of malignant human tumour cells
Mikhlid H Almutairi
P57 More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel sequencing (MPS)
Angie Ambers, Jennifer Churchill, Jonathan King, Monika Stoljarova, Harrell Gill-King, Mourad Assidi, Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Muhammad Al-Qatani, Bruce Budowle
P58 Flow cytometry approach towards treatment men infertility in Saudi Arabia
Muhammad Abu-Elmagd, Farid Ahmed, Ashraf Dallol, Mourad Assidi, Taha Abo Almagd, Sahar Hakamy, Ashok Agarwal, Muhammad Al-Qahtani, Adel Abuzenadah
P59 Tissue microarray based validation of CyclinD1 expression in renal cell carcinoma of Saudi kidney patients
Sajjad Karim, Hans-Juergen Schulten, Ahmad J Al Sayyad, Hasan MA Farsi, Jaudah A Al-Maghrabi, Abdelbaset Buhmaida, Zeenat Mirza, Reem Alotibi, Alaa Al-Ahmadi, Nuha A Alansari, Alaa A Albogmi, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Mohammed H Al-Qahtani
P60 Assessment of gold nanoparticles in molecular diagnostics and DNA damage studies
Rukhsana Satar, Mahmood Rasool, Waseem Ahmad, Nazia Nazam, Mohamad I Lone, Muhammad I Naseer, Mohammad S Jamal, Syed K Zaidi, Peter N Pushparaj, Mohammad A Jafri, Shakeel A Ansari, Mohammed H Alqahtani
P61 Surfing the biospecimen management and processing workflow at CEGMR Biobank
Hanan Bashier, Abrar Al Qahtani, Shilu Mathew, Amal M. Nour, Heba Alkhatabi, Adel M. Abu Zenadah, Abdelbaset Buhmeida, Mourad Assidi, Muhammed Al Qahtani
P62 Autism Spectrum Disorder: knowledge, attitude and awareness in Jeddah, Kingdom of Saudi Arabia
Muhammad Faheem, Shilu Mathew, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani
P63 Simultaneous genetic screening of the coagulation pathway genes using the Thromboscan targeted sequencing panel
Hani A. Alhadrami, Ashraf Dallol, Adel Abuzenadah
P64 Genome wide array comparative genomic hybridization analysis in patients with syndromic congenital heart defects
Ibtessam R. Hussein, Adeel G. Chaudhary, Rima S Bader, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans Schulten, Mohamed Nabil Alama, Mohammad H. Al Qahtani
P65 Toxocogenetic evaluation of 1, 2-Dichloroethane in bone marrow, blood and cells of immune system using conventional, molecular and flowcytometric approaches
Mohammad I Lone, Nazia Nizam, Waseem Ahmad, Mohammad A Jafri, Mahmood Rasool, Shakeel A Ansari, Muhammed H Al-Qahtani
P66 Molecular cytogenetic diagnosis of sexual development disorders in newborn: A case of ambiguous genitalia
Eradah Alshihri, Muhammad Abu-Elmagd, Lina Alharbi, Mourad Assidi, Mohammed Al-Qahtani
P67 Identification of disease specific gene expression clusters and pathways in hepatocellular carcinoma using In Silico methodologies
Shilu Mathew, Peter Pushparaj Natesan, Muhammed Al Qahtani
P68 Human Wharton’s Jelly stem cell conditioned medium inhibits primary ovarian cancer cells in vitro: Identification of probable targets and mechanisms using systems biology
Gauthaman Kalamegam, Peter Natesan Pushparaj, Fazal Khan, Roaa Kadam, Farid Ahmed, Mourad Assidi, Khalid Hussain Wali Sait, Nisreen Anfinan, Mohammed Al Qahtani
P69 Mutation spectrum of ASPM (Abnormal Spindle-like, Microcephaly-associated) gene in Saudi Arabian population
Muhammad I Naseer, Adeel G Chaudhary, Mohammad S Jamal, Shilu Mathew, Lobna S Mira, Peter N Pushparaj, Shakeel A Ansari, Mahmood Rasool, Mohammed H AlQahtani
P70 Identification and characterization of novel genes and mutations of primary microcephaly in Saudi Arabian population
Muhammad I Naseer, Adeel G Chaudhary, Shilu Mathew, Lobna S Mira, Mohammad S Jamal, Sameera Sogaty, Randa I Bassiouni, Mahmood Rasool, Mohammed H AlQahtani
P71 Molecular genetic analysis of hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Saudi Arabian population
Mahmood Rasool, Shakeel A Ansari, Mohammad S Jamal, Peter N Pushparaj, Abdulrahman MS Sibiani, Waseem Ahmad, Abdelbaset Buhmeida, Mohammad A Jafri, Mohiuddin K Warsi, Muhammad I Naseer, Mohammed H Al-Qahtani
P72 Function predication of hypothetical proteins from genome database of chlamydia trachomatis
Rubi, Kundan Kumar, Ahmad AT Naqvi, Faizan Ahmad, Md I Hassan, Mohammad S Jamal, Mahmood Rasool, Mohammed H AlQahtani
P73 Transcription factors as novel molecular targets for skin cancer
Ashraf Ali, Jummanah Jarullah, Mahmood Rasool, Abdelbasit Buhmeida, Shahida Khan, Ghufrana Abdussami, Maryam Mahfooz, Mohammad A Kamal, Ghazi A Damanhouri, Mohammad S Jamal
P74 An In Silico analysis of Plumbagin binding to apoptosis executioner: Caspase-3 and Caspase-7
Bushra Jarullah, Jummanah Jarullah, Mohammad SS Jarullah, Ashraf Ali, Mahmood Rasool, Mohammad S Jamal
P75 Single cell genomics applications for preimplantation genetic screening optimization: Comparative analysis of whole genome amplification technologies
Mourad Assidi, Muhammad Abu-Elmagd, Osama Bajouh, Peter Natesan Pushparaj, Mohammed Al-Qahtani, Adel Abuzenadah
P76 ZFP36 regulates miRs-34a in anti-IgM triggered immature B cells
Mohammad S Jamal, Jummanah Jarullah, Abdulah EA Mathkoor, Hashim MA Alsalmi, Anas MM Oun, Ghazi A Damanhauri, Mahmood Rasool, Mohammed H AlQahtani
P77 Identification of a novel mutation in the STAMBP gene in a family with microcephaly-capillary malformation syndrome
Muhammad I. Naseer, Mahmood Rasool, Sameera Sogaty, Adeel G. Chudhary, Yousif A. Abutalib, Daniele Merico, Susan Walker, Christian R. Marshall, Mehdi Zarrei, Stephen W. Scherer, Mohammad H. Al-Qahtani
P78 Copy number variations in Saudi patients with intellectual disability and epilepsy
Muhammad I. Naseer, Muhammad Faheem, Adeel G. Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai Talal Ashgan, Mourad Assidi, Farid Ahmed, Syed Kashif Zaidi, Mohammed M. Jan, Mohammad H. Al-Qahtani
P79 Prognostic significance of CD44 expression profile in colorectal carcinoma
Maryam Al-Zahrani, Sahira Lary, Sahar Hakamy, Ashraf Dallol, Mahmoud Al-Ahwal, Jaudah Al-Maghrabi, Emmanuel Dermitzakis, Adel Abuzenadah, Abdelbaset Buhmeida, Mohammed Al-Qahtani
P80 Association of the endothelial nitric oxide synthase (eNOS) gene G894T polymorphism with hypertension risk and complications
Abeer A Al-refai, Mona Saleh, Rehab I Yassien, Mahmmoud Kamel, Rabab M Habeb
P81 SNPs array to screen genetic variation among diabetic patients
Najlaa Filimban, Ashraf Dallol, Nadia Ghannam, Mohammed Al-Qahtani, Adel Mohammed Abuzenadah
P82 Detection and genotyping of Helicobacter pylori among gastric cancer patients from Saudi Arabian population
Fehmida Bibi, Sana Akhtar, Esam I. Azhar, Muhammad Yasir, Muhammad I. Nasser, Asif A. Jiman-Fatani, Ali Sawan
P83 Antimicrobial drug resistance and molecular detection of susceptibility to Fluoroquinolones among clinical isolates of Salmonella species from Jeddah-Saudi Arabia
Ruaa A Lahzah, Asho Ali
P84 Identification of the toxic and virulence nature of MAP1138c protein of Mycobacterium avium subsp. paratuberculosis
Syed A Hassan, Seyed E Hasnain, Iftikhar A Tayubi, Hamza A Abujabal, Alaa O Magrabi
P85 In vitro and in silico evaluation of miR137 in human breast cancer
Fazal Khan, Gauthaman Kalamegam, Peter Natesan Pushparaj, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour, Mohammed Al-Qahtani
P86 Auruka gene is over-expressed in Saudi breast cancer
Manal Shabaad, Shilu Mathew, Ashraf Dallol, Adnan Merdad, Abdelbaset Buhmeida, Mohammed Al-Qahtani
P87 The potential of immunogenomics in personalized healthcare
Mourad Assidi, Muhammad Abu-Elmagd, Kalamegam Gauthaman, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Peter Natesan Pushparaj, Mohammed Al-Qahtani
P88 In Silico physiochemical and structural characterization of a putative ORF MAP0591 and its implication in the pathogenesis of Mycobacterium paratuberculosis in ruminants and humans
Syed A Hassan, Iftikhar A Tayubi, Hani MA Aljahdali
P89 Effects of heat shock on human bone marrow mesenchymal stem cells (BM-MSCs): Implications in regenerative medicine
Reham Al Nono, Mamdooh Gari, Haneen Alsehli, Farid Ahmed, Mohammed Abbas, Gauthaman Kalamegam, Mohammed Al-Qahtani
P90 In Silico analyses of the molecular targets of Resveratrol unravels its importance in mast cell mediated allergic responses
Shilu Mathew, Fazal Khan, Mahmood Rasool, Mohammed Sarwar Jamal, Muhammad Imran Naseer, Zeenat Mirza, Sajjad Karim, Shakeel Ansari, Mourad Assidi, Gauthaman Kalamegam, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Peter Natesan Pushparaj, Mohammed Al-Qahtani
P91 Effects of environmental particulate matter on bone-marrow mesenchymal stem cells
Muhammad Abu-Elmagd, Gauthaman Kalamegam, Roaa Kadam, Mansour A Alghamdi, Magdy Shamy, Max Costa, Mamdouh I Khoder, Mourad Assidi, Peter Natesan Pushparaj, Mamdooh Gari, Mohammed Al-Qahtani
P92 Distinctive charge clusters in human virus proteomes
Najla Kharrat, Sabrine Belmabrouk, Rania Abdelhedi, Riadh Benmarzoug, Mourad Assidi, Mohammed H. Al Qahtani, Ahmed Rebai
P93 In vitro experimental model and approach in identification of new biomarkers of inflammatory forms of arthritis
Ghazi Dhamanhouri, Peter Natesan Pushparaj, Abdelwahab Noorwali, Mohammad Khalid Alwasiyah, Afnan Bahamaid, Saadiah Alfakeeh, Aisha Alyamani, Haneen Alsehli, Mohammed Abbas, Mamdooh Gari, Ali Mobasheri, Gauthaman Kalamegam, Mohammed Al-Qahtani
P94 Molecular docking of GABAA receptor subunit γ-2 with novel anti-epileptic compounds
Muhammad Faheem, Shilu Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani
P95 Breast cancer knowledge, awareness, and practices among Saudi females residing in Jeddah
Shilu Mathew, Muhammad Faheem, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani
P96 Anti-inflammatory role of Sesamin by Attenuation of Iba1/TNF-α/ICAM-1/iNOS signaling in Diabetic Retinopathy
Mohammad Sarwar Jamal, Syed Kashif Zaidi, Raziuddin Khan, Kanchan Bhatia, Mohammed H. Al-Qahtani, Saif Ahmad
P97 Identification of drug lead molecule against vp35 protein of Ebola virus: An In-Silico approach
Iftikhar AslamTayubi, Manish Tripathi, Syed Asif Hassan, Rahul Shrivastava
P98 An approach to personalized medicine from SNP-calling through disease analysis using whole exome-sequencing of three sub-continental populations
Iftikhar A Tayubi, Syed Hassan, Hamza A.S Abujabal
P99 Low versus high frequency of Glucose –6 – Phosphate Dehydrogenase (G6PD) deficiency in urban against tribal population of Gujarat – A signal to natural selection
Ishani Shah, Bushra Jarullah, Mohammad S Jamal, Jummanah Jarullah
P100 Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update
Ishfaq A Sheikh, Ejaz Ahmad, Mohammad S Jamal, Mohd Rehan, Muhammad Abu-Elmagd, Iftikhar A Tayubi, Samera F AlBasri, Osama S Bajouh, Rola F Turki, Adel M Abuzenadah, Ghazi A Damanhouri, Mohd A Beg, Mohammed Al-Qahtani
P101 Prevalence of congenital heart diseases among Down syndrome cases in Saudi Arabia: role of molecular genetics in the pathogenesis
Sahar AF Hammoudah, Khalid M AlHarbi, Lama M El-Attar, Ahmed MZ Darwish
P102 Combinatorial efficacy of specific pathway inhibitors in breast cancer cells
Sara M Ibrahim, Ashraf Dallol, Hani Choudhry, Adel Abuzenadah, Jalaludden Awlia, Adeel Chaudhary, Farid Ahmed, Mohammed Al-Qahtani
P103 MiR-143 and miR-145 cluster as potential replacement medicine for the treatment of cancer
Mohammad A Jafri, Muhammad Abu-Elmagd, Mourad Assidi, Mohammed Al-Qahtani
P104 Metagenomic profile of gut microbiota during pregnancy in Saudi population
Imran khan, Muhammad Yasir, Esam I. Azhar, Sameera Al-basri, Elie Barbour, Taha Kumosani
P105 Exploration of anticancer targets of selected metabolites of Phoenix dactylifera L. using systems biological approaches
Fazal Khan, Gauthaman Kalamegam, Peter Natesan Pushparaj, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour
P106 CD226 and CD40 gene polymorphism in susceptibility to Juvenile rheumatoid arthritis in Egyptian patients
Heba M. EL Sayed, Eman A. Hafez
P107 Paediatric exome sequencing in autism spectrum disorder ascertained in Saudi families
Hans-Juergen Schulten, Aisha Hassan Elaimi, Ibtessam R Hussein, Randa Ibrahim Bassiouni, Mohammad Khalid Alwasiyah, Richard F Wintle, Adeel Chaudhary, Stephen W Scherer, Mohammed Al-Qahtani
P108 Crystal structure of the complex formed between Phospholipase A2 and the central core hydrophobic fragment of Alzheimer’s β- amyloid peptide: a reductionist approach
Zeenat Mirza, Vikram Gopalakrishna Pillai, Sajjad Karim, Sujata Sharma, Punit Kaur, Alagiri Srinivasan, Tej P Singh, Mohammed Al-Qahtani
P109 Differential expression profiling between meningiomas from female and male patients
Reem Alotibi, Alaa Al-Ahmadi, Fatima Al-Adwani, Deema Hussein, Sajjad Karim, Mona Al-Sharif, Awatif Jamal, Fahad Al-Ghamdi, Jaudah Al-Maghrabi, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Hans-Juergen Schulten, Mohammed Al-Qahtani
P110 Neurospheres as models of early brain development and therapeutics
Muhammad Faheem, Peter Natesan Pushparaj, Shilu Mathew, Taha Abdullah Kumosani, Gauthaman Kalamegam, Mohammed Al-Qahtani
P111 Identification of a recurrent causative missense mutation p.(W577C) at the LDLR exon 12 in familial hypercholesterolemia affected Saudi families
Faisal A Al-Allaf, Zainularifeen Abduljaleel, Abdullah Alashwal, Mohiuddin M. Taher, Abdellatif Bouazzaoui, Halah Abalkhail, Faisal A. Ba-Hammam, Mohammad Athar
P112 Epithelial ovarian carcinoma (EOC): Systems oncological approach to identify diagnostic, prognostic and therapeutic biomarkers
Gauthaman Kalamegam, Peter Natesan Pushparaj, Muhammad Abu-Elmagd, Farid Ahmed Khalid HussainWali Sait, Nisreen Anfinan, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Mourad Assidi, Mohammed Al-Qahtani
P113 Crohn’s disease phenotype in northern Tunisian population
Naira Ben Mami, Yosr Z Haffani, Mouna Medhioub, Lamine Hamzaoui, Ameur Cherif, Msadok Azouz
P114 Establishment of In Silico approaches to decipher the potential toxicity and mechanism of action of drug candidates and environmental agents
Gauthaman Kalamegam, Fazal Khan, Shilu Mathew, Mohammed Imran Nasser, Mahmood Rasool, Farid Ahmed, Peter Natesan Pushparaj, Mohammed Al-Qahtani
P115 1q Gain predicts poor prognosis marker for young breast cancer patients
Shereen A Turkistany, Lina M Al-harbi, Ashraf Dallol, Jamal Sabir, Adeel Chaudhary, Adel Abuzenadah
P116 Disorders of sex chromosomes in a diagnostic genomic medicine unit in Saudi Arabia: Prevalence, diagnosis and future guidelines
Basmah Al-Madoudi, Bayan Al-Aslani, Khulud Al-Harbi, Rwan Al-Jahdali, Hanadi Qudaih, Emad Al Hamzy, Mourad Assidi, Mohammed Al Qahtani
P117 Combination of WYE354 and Sunitinib demonstrate synergistic inhibition of acute myeloid leukemia in vitro
Asad M Ilyas, Youssri Ahmed, Mamdooh Gari, Farid Ahmed, Mohammed Alqahtani
P118 Integrated use of evolutionary information in GWAS reveals important SNPs in Asthma
Nada Salem, Sajjad Karim, Elham M Alhathli, Heba Abusamra, Hend F Nour Eldin, Mohammed H Al-Qahtani, Sudhir Kumar
P119 Assessment of BRAF, IDH1, IDH2, and EGFR mutations in a series of primary brain tumors
Fatima Al-Adwani, Deema Hussein, Mona Al-Sharif, Awatif Jamal, Fahad Al-Ghamdi, Jaudah Al-Maghrabi, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Mohammed Al-Qahtani, Hans-Juergen Schulten
P120 Expression profiles distinguish oligodendrogliomas from glioblastoma multiformes with or without oligodendroglioma component
Alaa Alamandi, Reem Alotibi, Deema Hussein, Sajjad Karim, Jaudah Al-Maghrabi, Fahad Al-Ghamdi, Awatif Jamal, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Hans-Juergen Schulten, Mohammed Al-Qahtani
P121 Hierarchical clustering in thyroid goiters and hyperplastic lesions
Ohoud Subhi, Nadia Bagatian, Sajjad Karim, Adel Al-Johari, Osman Abdel Al-Hamour, Hosam Al-Aradati, Abdulmonem Al-Mutawa, Faisal Al-Mashat, Jaudah Al-Maghrabi, Hans-Juergen Schulten, Mohammad Al-Qahtani
P122 Differential expression analysis in thyroiditis and papillary thyroid carcinomas with or without coexisting thyroiditis
Nadia Bagatian, Ohoud Subhi, Sajjad Karim, Adel Al-Johari, Osman Abdel Al-Hamour, Abdulmonem Al-Mutawa, Hosam Al-Aradati, Faisal Al-Mashat, Mohammad Al-Qahtani, Hans-Juergen Schulten, Jaudah Al-Maghrabi
P123 Metagenomic analysis of waste water microbiome in Sausdi Arabia
Muhammad W shah, Muhammad Yasir, Esam I Azhar, Saad Al-Masoodi
P124 Molecular characterization of Helicobacter pylori from faecal samples of Tunisian patients with gastric cancer
Yosr Z Haffani, Msadok Azouz, Emna Khamla, Chaima Jlassi, Ahmed S. Masmoudi, Ameur Cherif, Lassaad Belbahri
P125 Diagnostic application of the oncoscan© panel for the identification of hereditary cancer syndrome
Shadi Al-Khayyat, Roba Attas, Atlal Abu-Sanad, Mohammed Abuzinadah, Adnan MerdadAshraf Dallol, Adeel Chaudhary, Mohammed Al-Qahtani, Adel Abuzenadah
P126 Characterization of clinical and neurocognitive features in a family with a novel OGT gene missense mutation c. 1193G > A/ (p. Ala319Thr)
Habib Bouazzi, Carlos Trujillo, Mohammad Khalid Alwasiyah, Mohammed Al-Qahtani
P127 Case report: a rare homozygous deletion mutation of TMEM70 gene associated with 3-Methylglutaconic Aciduria and cataract in a Saudi patient
Maha Alotaibi, Rami Nassir
P128 Isolation and purification of antimicrobial milk proteins
Ishfaq A Sheikh, Mohammad A Kamal, Essam H Jiffri, Ghulam M Ashraf, Mohd A Beg
P129 Integrated analysis reveals association of ATP8B1 gene with colorectal cancer
Mohammad A Aziz, Rizwan Ali, Mahmood Rasool, Mohammad S Jamal, Nusaibah samman, Ghufrana Abdussami, Sathish Periyasamy, Mohiuddin K Warsi, Mohammed Aldress, Majed Al Otaibi, Zeyad Al Yousef, Mohamed Boudjelal, Abdelbasit Buhmeida, Mohammed H Al-Qahtani, Ibrahim AlAbdulkarim
P130 Implication of IL-10 and IL-28 polymorphism with successful anti-HCV therapy and viral clearance
Rubi Ghazala, Shilu Mathew, M. Haroon Hamed, Mourad Assidi, Mohammed Al-Qahtani, Ishtiaq Qadri
P131 Interactions of endocrine disruptor di-(2-ethylhexyl) phthalate (DEHP) and its metabolite mono-2-ethylhexyl phthalate (MEHP) with progesterone receptor
Ishfaq A Sheikh, Muhammad Abu-Elmagd, Rola F Turki, Ghazi A Damanhouri, Mohd A. Beg
P132 Association of HCV nucleotide polymorphism in the development of hepatocellular carcinoma
Mohd Suhail, Abid Qureshi, Adil Jamal, Peter Natesan Pushparaj, Mohammad Al-Qahtani, Ishtiaq Qadri
P133 Gene expression profiling by DNA microarrays in colon cancer treated with chelidonine alkaloid
Mahmoud Z El-Readi, Safaa Y Eid, Michael Wink
P134 Successful in vitro fertilization after eight failed trials
Ahmed M. Isa, Lulu Alnuaim, Johara Almutawa, Basim Abu-Rafae, Saleh Alasiri, Saleh Binsaleh
P135 Genetic sensitivity analysis using SCGE, cell cycle and mitochondrial membrane potential in OPs stressed leukocytes in Rattus norvegicus through flow cytometric input
Nazia Nazam, Mohamad I Lone, Waseem Ahmad, Shakeel A Ansari, Mohamed H Alqahtani
doi:10.1186/s12864-016-2858-0
PMCID: PMC4959372  PMID: 27454254
8.  Sensor Network-Based and User-Friendly User Location Discovery for Future Smart Homes 
User location is crucial context information for future smart homes where many location based services will be proposed. This location necessarily means that User Location Discovery (ULD) will play an important role in future smart homes. Concerns about privacy and the need to carry a mobile or a tag device within a smart home currently make conventional ULD systems uncomfortable for users. Future smart homes will need a ULD system to consider these challenges. This paper addresses the design of such a ULD system for context-aware services in future smart homes stressing the following challenges: (i) users’ privacy; (ii) device-/tag-free; and (iii) fault tolerance and accuracy. On the other hand, emerging new technologies, such as the Internet of Things, embedded systems, intelligent devices and machine-to-machine communication, are penetrating into our daily life with more and more sensors available for use in our homes. Considering this opportunity, we propose a ULD system that is capitalizing on the prevalence of sensors for the home while satisfying the aforementioned challenges. The proposed sensor network-based and user-friendly ULD system relies on different types of inexpensive sensors, as well as a context broker with a fuzzy-based decision-maker. The context broker receives context information from different types of sensors and evaluates that data using the fuzzy set theory. We demonstrate the performance of the proposed system by illustrating a use case, utilizing both an analytical model and simulation.
doi:10.3390/s16070969
PMCID: PMC4970021  PMID: 27355951
user location discovery; sensor network; user friendly; fuzzy set; smart homes
10.  Surgery for Tetralogy of Fallot in Adults: Early Outcomes 
Objective
To study the in-hospital outcome of adult patients who had undergone surgical repair for Tetralogy of Fallot.
Methods
A retrospective descriptive study was conducted at the Punjab Institute of Cardiology searching the hospital records. All those adult patients who had undergone repair for Tetralogy of Fallot from January 2012 to December 2014 were included in the study. All the patients were operated by the same surgical team. Patients who underwent primary repair as well as those with previous palliative procedures were included in the study. Thirty days outcome was studied by recording variables from the database. Data was analysed using Statistical Package for Social Sciences version 16.
Results
A total of 80 patients was included in the study, in which there were 48 (60%) male patients and 32 (40%) female patients. Mean age was 21±0.21 years. Those with previous palliation were 15 (18.75%). The associated problems observed were: atrial septal defect 27 (33.75%), right aortic arch 30 (37.5%), patent ductus arteriosus 6 (7.5%) and double outlet right ventricle 3 (3.75%). In-hospital mortality recorded was 7 (8%). Postoperative complications encountered were low cardiac output syndrome 9 (11.25%), pleural effusion requiring tapping 3 (3.75%), reoperation for bleeding 3 (3.8%), pulmonary regurgitation (moderate to severe) 20 (25%) which occurred in the transannular patch group only and atrial arrhythmia 4 (5%).
Conclusion
A large number of adult patients are still operated for tetralogy of Fallot in Pakistan. With increasing experience in the technique the mortality and morbidity is comparable to international literature.
doi:10.5935/1678-9741.20160063
PMCID: PMC5094420  PMID: 27849302
Tetralogy of Fallot; Adult; Hospital Mortality
11.  THE CASE FOR A TYPHOID VACCINE PROBE STUDY AND OVERVIEW OF DESIGN ELEMENTS 
Vaccine  2015;33(0 3):C30-C35.
Recent advances in typhoid vaccine, and consideration of support from Gavi, the Vaccine Alliance, raise the possibility that some endemic countries will introduce typhoid vaccine into public immunization programs. This decision, however, is limited by lack of definitive information on disease burden. We propose use of a vaccine probe study approach. This approach would more clearly assess the total burden of typhoid across different syndromic groups and account for lack of access to care, poor diagnostics, incomplete laboratory testing, lack of mortality and intestinal perforation surveillance, and increasing antibiotic resistance. We propose a cluster randomized trial design using a mass immunization campaign among all age groups, with monitoring over a 4-year period of a variety of outcomes. The primary outcome would be the vaccine preventable disease incidence of prolonged fever hospitalization. Sample size calculations suggest that such a study would be feasible over a reasonable set of assumptions.
doi:10.1016/j.vaccine.2015.03.085
PMCID: PMC4633310  PMID: 25912286
clinical trial; disease burden; trial design; typhoid; typhoid vaccine; vaccine; vaccine probe study
12.  Attenuation and Production of the Amphotericin B-Resistant Leishmania tropica Strain 
Background
Infections caused by Leishmania are becoming major public health problems on a global scale. Many species of Leishmania around the world are obtaining resistance levels of up to 15 folds, as estimated by the World Health Organization. Leishmania showing resistance is relatively difficult to observe and maintain in laboratory settings.
Objectives
The current study deals with the generation of Leishmania tropica strains that are resistant to amphotericin B (amp B).
Materials and Methods
The L. tropica strain was attenuated using continuous passaging 20 times. The infectivity of L. tropica was confirmed in BALB/c mice. The L. tropica resistant strain was produced in vitro using a continuous increase in drug pressure. The cross resistance of L. tropica to other drugs was also investigated.
Results
After 20 continuous passages, the BALB/c mice tested negative in the development of leishmaniasis. At a concentration of 0.1 µg/mL, L. tropica showed resistance to amp B. The newly developed promastigotes were 16 times more resistant compared to the resistance of the wild type promastigotes. The resistant L. tropica strain showed cross resistance to itraconazole and had a resistance index that was greater than five. The resistant strain displayed maximum stability for more than three months in the drug-free medium.
Conclusions
The resistant strain of L. tropica can be produced in laboratories using continuous drug pressure. The attenuated resistant strain has significant implications (both medically and academically) in the ability to overcome resistance.
doi:10.5812/jjm.32159
PMCID: PMC5011406  PMID: 27630762
Amphotericin B; Drug Resistance; Leishmania tropica,
13.  Dosimetry for photobiomodulation therapy: response to Sommers et al. 
doi:10.21037/atm.2016.05.34
PMCID: PMC4885889  PMID: 27294101
14.  Fabry's Disease: Case Series and Review of Literature 
Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10–15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here.
doi:10.4103/2141-9248.183935
PMCID: PMC4924496  PMID: 27398254
Alpha-galactosidase A; End-stage renal disease; Fabry's disease; Kidney transplantation; Proteinuria
15.  Metagenomic Analysis of Antibiotic-Induced Changes in Gut Microbiota in a Pregnant Rat Model 
Food and Drug Administration (FDA, USA)-approved category B antibiotics are commonly prescribed to treat infections during pregnancy. The aim of this study was to investigate antibiotic-induced changes in gut microbiota (GM) that occur during pregnancy. The 16S rRNA amplicon deep-sequencing method was used to analyze the effect of category B antibiotics (azithromycin, amoxicillin and cefaclor) on GM during pregnancy using a rat model. The GM composition was substantially modulated by pregnancy and antibiotics administration. Firmicutes, Bacteroidetes, Proteobacteria, Chlamydiae, Actinobacteria, and Cyanobacteria were the dominant phyla. Antibiotic treatment during pregnancy increased the relative abundance of Proteobacteria and reduced Firmicutes. The genera Shigella, Streptococcus, Candidatus Arthromitus, and Helicobacter were significantly (p < 0.05) more abundant during pregnancy. Antibiotics significantly (p < 0.05) reduced the relative abundance of Lactobacillus but increased that of Enterobacter. There was a significant (p < 0.05) decrease in Lactobacillus sp., Lactobacillus gallinarum and Lactobacillus crispatus during pregnancy. Antibiotic treatment reduced bacterial diversity; the lowest number of operational taxonomic units (OTUs) were detected in the cefaclor-treated groups. Antibiotics significantly (p < 0.05) promoted weight gain during pregnancy, and increased relative abundance of Shigella sonnei, Enterococcus hormaechei, and Acinetobacter sp. GM perturbations were accompanied by increases in Proteobacteria abundance and weight gain in pregnancy following antibiotic treatment.
doi:10.3389/fphar.2016.00104
PMCID: PMC4849429  PMID: 27199748
gut microbiota; azithromycin; amoxicillin; cefaclor; pregnancy; rats; 16S rRNA gene
16.  Utility of Serum miR-125b as a Diagnostic and Prognostic Indicator and Its Alliance with a Panel of Tumor Suppressor Genes in Epithelial Ovarian Cancer 
PLoS ONE  2016;11(4):e0153902.
MicroRNAs (miRNAs) have been found to be dysregulated in epithelial ovarian cancer (EOC) and may function as either tumor suppressor genes (TSGs) or as oncogenes. Hypermethylation of miRNA silences the tumour suppressive function of a miRNA or hypermethylation of a TSG regulating that miRNA (or vice versa) leads to its loss of function. The present study aims to evaluate the impact of aberrant microRNA-125b (miR-125b) expression on various clinicopathological features in epithelial ovarian cancer and its association with anomalous methylation of several TSGs. We enrolled 70 newly diagnosed cases of epithelial ovarian cancer, recorded their clinical history and 70 healthy female volunteers. Serum miR-125b levels were determined by quantitative reverse transcription polymerase chain reaction (qRT-PCR) and the methylation status of various TSGs was investigated by methylation specific PCR. ROC curves were constructed to estimate the diagnostic and prognostic usefulness of miR-125b. The Kaplan—Meier method was applied to compare survival curves. Expression of miR-125b was found to be significantly upregulated (p<0.0001) in comparison with healthy controls. The expression level of miR-125b was found to be significantly associated with FIGO stage, lymph node and distant metastasis. ROC curve for diagnostic potential yielded significant AUC with an equitable sensitivity and specificity. ROC curves for prognosis yielded significant AUCs for histological grade, distal metastasis, lymph node status and survival. The expression of miR-125b also correlated significantly with the hypermethylation of TSGs. Our results indicate that DNA hypermethylation may be involved in the inactivation of miR-125b and miR-125b may function as a potential independent biomarker for clinical outcome in EOC.
doi:10.1371/journal.pone.0153902
PMCID: PMC4836713  PMID: 27092777
17.  GABA-A Receptor Modulation and Anticonvulsant, Anxiolytic, and Antidepressant Activities of Constituents from Artemisia indica Linn 
Artemisia indica, also known as “Mugwort,” has been widely used in traditional medicines. However, few studies have investigated the effects of nonvolatile components of Artemisia indica on central nervous system's function. Fractionation of Artemisia indica led to the isolation of carnosol, ursolic acid, and oleanolic acid which were evaluated for their effects on GABA-A receptors in electrophysiological studies in Xenopus oocytes and were subsequently investigated in mouse models of acute toxicity, convulsions (pentylenetetrazole induced seizures), depression (tail suspension and forced swim tests), and anxiety (elevated plus maze and light/dark box paradigms). Carnosol, ursolic acid, and oleanolic acid were found to be positive modulators of α1β2γ2L GABA-A receptors and the modulation was antagonized by flumazenil. Carnosol, ursolic acid, and oleanolic acid were found to be devoid of any signs of acute toxicity (50–200 mg/kg) but elicited anticonvulsant, antidepressant, and anxiolytic activities. Thus carnosol, ursolic acid, and oleanolic acid demonstrated CNS activity in mouse models of anticonvulsant, antidepressant, and anxiolysis. The anxiolytic activity of all three compounds was ameliorated by flumazenil suggesting a mode of action via the benzodiazepine binding site of GABA-A receptors.
doi:10.1155/2016/1215393
PMCID: PMC4838807  PMID: 27143980
18.  Effect of alcohol on adipose tissue: a review on ethanol mediated adipose tissue injury 
Adipocyte  2015;4(4):225-231.
Background: Alcohol consumption has been in existence in the world for many centuries and it is the major cause of death and injury worldwide. Alcoholic liver disease (ALD) is caused due to excess and chronic alcohol intake. Studies across the globe have identified several pathways leading to ALD. Adipose tissue which has been considered as an energy storage organ is also found to play a major role in ALD progression by secreting hormones and cytokines known as adipokines or adipocytokines. Ethanol affects the metabolic and innate immune activities of adipose tissue contributing to alcohol-induced injury of the tissues.
Objective: We aimed at 1) summarizing the metabolism and progression of ALD 2) summarizing about the structure and effect of ethanol induced oxidative stress on adipose tissue 3) reviewing the available data on the effect of ethanol on adipose tissue mass and adipokine secretion in both rodent models and alcoholic patients.
Methods: The article is summarized based on the original literature and reviews in studying the effect of ethanol on adipose tissue.
Results: Studies on alcoholic patients and rodent models has shown that chronic ethanol consumption reduces adipose tissue mass and causes CYP2E1 mediated oxidative stress and inflammation of adipose tissue. Further hyperlipolysis is observed in adipose tissue that leads to excess fatty acid release that gets transported and deposited in the liver resulting in hepatic steatosis.
Conclusion: Studies show that adipose tissue plays a major role in the progression of ALD. So understanding of the mechanisms linking ethanol induced adipose tissue injury with ALD progression would help us in identifying potential therapeutic targets.
doi:10.1080/21623945.2015.1017170
PMCID: PMC4573182  PMID: 26451277
adipokines; alcohol; alcoholic liver disease; CYP2E1; oxidative stress; white adipose tissue
19.  Coagulansin-A has beneficial effects on the development of bovine embryos in vitro via HSP70 induction 
Bioscience Reports  2016;36(2):e00310.
Treatment with the steroidal lactone, coagulansin-A, improves bovine oocyte maturation and embryo development in vitro by inducing heat shock protein 70 (HSP70), which reduces the levels of reactive oxygen species (ROS), DNA damage and inflammation.
Coagulansin-A (withanolide) is the steroidal lactone obtained from Withania coagulans which belong to Solanaceae family. The present study investigated the effects of coagulansin-A on bovine oocyte maturation and embryo development in vitro. All these oocytes were aspirated from the ovaries obtained from Korean Hanwoo cows at a local abattoir. To determine whether coagulansin-A has beneficial effects on bovine oocyte maturation in vitro, 355 oocytes per group (control and treated) in seven replicates were subjected with different concentrations (1, 2.5, 5, 7.5 and 10 μM) of coagulansin-A. The coagulansin-A was added in the in vitro maturation (IVM) media followed by in vitro fertilization (IVF) and then in vitro culture (IVC). Only treatment with 5 μM coagulansin-A remarkably (P<0.05) improved embryos development (Day 8 blastocyst) having 27.30 and 40.01% for control and coagulansin-A treated groups respectively. Treatment with 5 μM coagulansin-A significantly induced activation of heat shock protein 70 (HSP70) (P<0.05). Immunofluorescence analysis revealed that 5 μM coagulansin-A treatment also significantly inhibited oxidative stress and inflammation during bovine embryo development in vitro by decreasing 8-oxoguanosine (8-OxoG) (P<0.05) and nuclear factor-κB (NF-κB) (P<0.05). The expressions of HSP70 and NF-κB were also conformed through real-time PCR (RT-PCR). Additionally, the terminal deoxynucleotidyl transferase dUTP nick-end labelling (TUNEL) assay confirmed that coagulansin-A treatment significantly improved the embryo quality and reduced bovine embryo DNA damage (P<0.05). The present study provides new information regarding the mechanisms by which coagulansin-A promotes bovine embryo development in vitro.
doi:10.1042/BSR20150222
PMCID: PMC4793297  PMID: 26831738
bovine embryo; coagulansin-A; DNA damage; heat shock protein 70 (HSP70); nuclear factor-κB (NF-κB)
20.  Whole-Genome Identification, Phylogeny, and Evolution of the Cytochrome P450 Family 2 (CYP2) Subfamilies in Birds 
Genome Biology and Evolution  2016;8(4):1115-1131.
The cytochrome P450 (CYP) superfamily defends organisms from endogenous and noxious environmental compounds, and thus is crucial for survival. However, beyond mammals the molecular evolution of CYP2 subfamilies is poorly understood. Here, we characterized the CYP2 family across 48 avian whole genomes representing all major extant bird clades. Overall, 12 CYP2 subfamilies were identified, including the first description of the CYP2F, CYP2G, and several CYP2AF genes in avian genomes. Some of the CYP2 genes previously described as being lineage-specific, such as CYP2K and CYP2W, are ubiquitous to all avian groups. Furthermore, we identified a large number of CYP2J copies, which have been associated previously with water reabsorption. We detected positive selection in the avian CYP2C, CYP2D, CYP2H, CYP2J, CYP2K, and CYP2AC subfamilies. Moreover, we identified new substrate recognition sites (SRS0, SRS2_SRS3, and SRS3.1) and heme binding areas that influence CYP2 structure and function of functional importance as under significant positive selection. Some of the positively selected sites in avian CYP2D are located within the same SRS1 region that was previously linked with the metabolism of plant toxins. Additionally, we find that selective constraint variations in some avian CYP2 subfamilies are consistently associated with different feeding habits (CYP2H and CYP2J), habitats (CYP2D, CYP2H, CYP2J, and CYP2K), and migratory behaviors (CYP2D, CYP2H, and CYP2J). Overall, our findings indicate that there has been active enzyme site selection on CYP2 subfamilies and differential selection associated with different life history traits among birds.
doi:10.1093/gbe/evw041
PMCID: PMC4860681  PMID: 26979796
avian genomes; cytochrome P450 (CYPs); substrate recognition sites (SRS); heme binding areas (HEM); positive selection
21.  Importance of glucokinase −258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus 
Summary
Type 2 diabetes mellitus (T2DM) and post-transplant diabetes mellitus (PTDM) are non-synonymous forms of diabetes. Glucokinase (GCK) plays a key role in glucose metabolism. The relationship between the GCK promoter and specific types of diabetes, such as PTDM and T2DM, in the Asian Indian population is unknown. We examined the occurrence of a specific GCK promoter variant (−258G/A) in patients with T2DM and PTDM. The case-control study enrolled 640 Asian Indian subjects, including controls (n = 250) and T2DM (n = 250), PTDM (n = 42), and non-post-transplant diabetes mellitus (non-PTDM) (n = 98) patients. Purified Deoxyribonucleic acid (DNA) was genotyped with the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. The digested PCR products were analyzed on 12% polyacrylamide gels. The anthropometric, biochemical, and clinical details of each group were documented. GCK −258G/A alleles and genotypes were not associated with T2DM. However, among PTDM subjects, we detected a higher frequency of heterozygotes (52.4%) and a positive association with alleles/genotypes. The results suggest that the promoter region (−258G/A) of GCK plays an important role in PTDM in Asian Indians.
doi:10.5582/irdr.2015.01040
PMCID: PMC4761580  PMID: 26989645
GCK; −258G/A; T2DM; PTDM; Asian Indians
22.  Type 2 Diabetes Mellitus and the Association of Candidate Genes in Asian Indian Population from Hyderabad, India 
Introduction
Genetic and environmental factors play an important role in susceptibility to type 2 diabetes mellitus (T2DM). Several genes have been implicated in the development of T2DM. Genetic variants of candidate genes are, therefore, prime targets for molecular analysis.
Aim
In this study, we have selected 3 candidate genes, namely, TCF7L2, SLC30A8, and IGF2, for assessing their association with T2DM in an Indian population.
Materials and Methods
Five hundred individuals were enrolled in this case-control study- 250 T2DM patients and 250 healthy control individuals. Clinical characteristics were obtained for all subjects, and genotype analysis was performed by PCR-RFLP analysis.
Results
Allele and genotyping frequencies, odds ratios, and 95% confidence intervals were calculated for 3 single nucleotide polymorphisms (SNPs), 1 each from TCF7L2 (rs7903146), SLC30A8 (rs13266634), and IGF2 (rs680) in T2DM patients. The rs7903146 and rs680 polymorphisms were found to be significantly associated with T2DM (p < 0.05), whereas the rs13266634 polymorphism was not (p > 0.05). The multifactor dimensionality reduction method identified the particular polymorphisms associated with an increased risk of disease.
Conclusion
The present study indicated that the gene–gene interaction model successfully predicted T2DM risk based on TCF7L2 and SLC30A8 polymorphisms. These results provide strong evidence of independent association between T2DM and the 3 SNPs analysed herein.
doi:10.7860/JCDR/2015/14471.6855
PMCID: PMC4668434  PMID: 26673680
TCF7L2; (rs7903146); SLC30A8; (rs 13266634); IGF2 (rs680)
23.  Impact of brisk walking and aerobics in overweight women 
[Purpose] Lack of physical activity and an uncontrolled diet cause excessive weight gain, which leads to obesity and other metabolic disorders. Studies have indicated that brisk walking and aerobics are the best methods for controlling and reducing weight and body mass composition. [Subjects and Methods] In this study, 45 overweight women were enrolled and divided into 3 groups. Women not involved in brisk walking or aerobics were included in group A (n = 15) as control subjects; women involved in brisk walking were in group B (n = 15); and those involved in aerobics were in group C (n = 15). [Results] This program was carried out 5 days/week for 10 weeks. Pre- and post-measurements of body mass index, waist and hip circumference, and skinfold thickness of the abdomen, subscapular area, biceps, and triceps were recorded for the women in all 3 groups. All values decreased in women who participated in brisk walking and aerobics for 10 weeks. [Conclusion] These results indicate that aerobics with diet therapy is a more effective intervention program for controlling and reducing body mass index and skinfold thickness than brisk walking with diet therapy in North Indian women.
doi:10.1589/jpts.28.293
PMCID: PMC4756023  PMID: 26957777
Overweight; Brisk walking; Aerobics
24.  Gut Microbiota: A Contributing Factor to Obesity 
Obesity, a global epidemic of the modern era, is a risk factor for cardiovascular diseases (CVD) and diabetes. The pervasiveness of obesity and overweight in both developed as well as developing populations is on the rise and placing a huge burden on health and economic resources. Consequently, research to control this emerging epidemic is of utmost importance. Recently, host interactions with their resident gut microbiota (GM) have been reported to be involved in the pathogenesis of many metabolic diseases, including obesity, diabetes, and CVD. Around 1014 microorganisms reside within the lower human intestine and many of these 1014 microorganisms have developed mutualistic or commensal associations with the host and actively involved in many physiological processes of the host. However, dysbiosis (altered gut microbial composition) with other predisposing genetic and environmental factors, may contribute to host metabolic disorders resulting in many ailments. Therefore, delineating the role of GM as a contributing factor to obesity is the main objective of this review. Obesity research, as a field is expanding rapidly due to major advances in nutrigenomics, metabolomics, RNA silencing, epigenetics, and other disciplines that may result in the emergence of new technologies and methods to better interpret causal relationships between microbiota and obesity.
doi:10.3389/fcimb.2016.00095
PMCID: PMC5003832  PMID: 27625997
Saudi Arabia; obesity; gut microbiota; food; GM-obesity dilema
25.  Biophysical Approaches for Oral Wound Healing: Emphasis on Photobiomodulation 
Advances in Wound Care  2015;4(12):724-737.
Significance: Oral wounds can lead to significant pain and discomfort as well as affect overall general health due to poor diet and inadequate nutrition. Besides many biological and pharmaceutical methods being investigated, there is growing interest in exploring various biophysical devices that utilize electric, magnetic, ultrasound, pressure, and light energy.
Recent Advances: Significant insight into mechanisms of these biophysical devices could provide a clear rationale for their clinical use. Preclinical studies are essential precursors in determining physiological mechanisms and elucidation of causal pathways. This will lead to development of safe and effective therapeutic protocols for clinical wound management.
Critical Issues: Identification of precise events initiated by biophysical devices, specifically photobiomodulation—the major focus of this review, offers promising avenues in improving oral wound management. The primary phase responses initiated by the interventions that distinctly contribute to the therapeutic response must be clearly delineated from secondary phase responses. The latter events are a consequence of the wound healing process and must not be confused with causal mechanisms.
Future Direction: Clinical adoption of these biophysical devices needs robust and efficacious protocols that can be developed by well-designed preclinical and clinical studies. Elucidation of the precise molecular mechanisms of these biophysical approaches could determine optimization of their applications for predictive oral wound care.
doi:10.1089/wound.2014.0623
PMCID: PMC4651023  PMID: 26634185

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