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1.  Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype 
BMC Genetics  2013;14:95.
Background
Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.
Results
We identified a family with the KFS phenotype in which their parents have a consanguineous marriage. Radiological examinations revealed that they carry fusion defects and numerical abnormalities in the cervical spine, scoliosis, malformations of the cranial base, and Sprengel’s deformity. We applied whole genome linkage and whole-exome sequencing analysis to identify the chromosomal locus and gene mutated in this family. Whole genome linkage analysis revealed a significant linkage to chromosome 17q12-q33 with a LOD score of 4.2. Exome sequencing identified the G > A p.Q84X mutation in the MEOX1 gene, which is segregated based on pedigree status. Homozygous MEOX1 mutations have reportedly caused a similar phenotype in knockout mice.
Conclusions
Here, we report a truncating mutation in the MEOX1 gene in a KFS family with an autosomal recessive trait. Together with another recently reported study and the knockout mouse model, our results suggest that mutations in MEOX1 cause a recessive KFS phenotype in humans.
doi:10.1186/1471-2156-14-95
PMCID: PMC3849745  PMID: 24073994
Klippel-Feil syndrome; MEOX1; Whole-exome sequencing; Vertebra; Whole genome linkage analysis
2.  Ozone Therapy and Hyperbaric Oxygen Treatment in Lung Injury in Septic Rats 
Various therapeutic protocols were used for the management of sepsis including hyperbaric oxygen (HBO) therapy. It has been shown that ozone therapy (OT) reduced inflammation in several entities and exhibits some similarity with HBO in regard to mechanisms of action. We designed a study to evaluate the efficacy of OT in an experimental rat model of sepsis to compare with HBO. Male Wistar rats were divided into sham, sepsis+cefepime, sepsis+cefepime+HBO, and sepsis+cefepime+OT groups. Sepsis was induced by an intraperitoneal injection of Escherichia coli; HBO was administered twice daily; OT was set as intraperitoneal injections once a day. The treatments were continued for 5 days after the induction of sepsis. At the end of experiment, the lung tissues and blood samples were harvested for biochemical and histological analysis. Myeloperoxidase activities and oxidative stress parameters, and serum proinflammatory cytokine levels, IL-1β and TNF-α, were found to be ameliorated by the adjuvant use of HBO and OT in the lung tissue when compared with the antibiotherapy only group. Histologic evaluation of the lung tissue samples confirmed the biochemical outcome. Our data presented that both HBO and OT reduced inflammation and injury in the septic rats' lungs; a greater benefit was obtained for OT. The current study demonstrated that the administration of OT as well as HBO as adjuvant therapy may support antibiotherapy in protecting the lung against septic injury. HBO and OT reduced tissue oxidative stress, regulated the systemic inflammatory response, and abated cellular infiltration to the lung demonstrated by findings of MPO activity and histopathologic examination. These findings indicated that OT tended to be more effective than HBO, in particular regarding serum IL-1β, lung GSH-Px and histologic outcome.
PMCID: PMC3020392  PMID: 21234269
Sepsis; Escherichia coli; HBO; Ozone; Oxidant stress; Antioxidant.
3.  Predisposing factors and surgical outcome of complicated liver hydatid cysts 
AIM: To evaluate the predisposing factors for peritoneal perforation and intrabiliary rupture and the effects of these complications on surgical outcome in liver hydatid disease.
METHODS: A total of 372 patients with liver hydatid cysts who had undergone surgical treatment were evaluated retrospectively. Twenty eight patients with peritoneal perforation, 93 patients with spontaneous intrabiliary perforation, and 251 patients with noncomplicated hydatid cysts were treated in our clinics.
RESULTS: When the predisposing factors for complications were evaluated, younger age, superficial position, and larger cyst dimensions (P < 0.05; range, 0.001-0.017) increased peritoneal perforation rates. It was shown that older age increased cyst dimensions, and presence of multiple and bilobar cysts increased intrabiliary rupture rates (P < 0.05; range, 0.001-0.028). Partial pericystectomy and drainage was the most frequent surgical procedure in all groups (71.6%). The incidence of post-operative complications in the peritoneal perforated group, in the intrabiliary ruptured group, and in the noncomplicated group was 25%, 16.1% and 5.5%, respectively. When compared, complication rates were significantly different (P = 0.002). When length of hospital stay was compared, there was no significant difference between the groups (P > 0.05). The overall recurrence rate was 3.8% (14 patients), but there was not any statistical difference among the patient groups (P = 0.13). The early postoperative mortality rate was 1.1%.
CONCLUSION: In peritoneally perforated and intrabiliary ruptured cases, the most important steps are irrigation of the peritoneal cavity and clearance of the cystic material from the biliary tree.
doi:10.3748/wjg.v16.i24.3040
PMCID: PMC2890945  PMID: 20572308
Complicated liver hydatid cysts; Predisposing factors; Surgical treatment; Surgical outcome
4.  A resampling-based meta-analysis for detection of differential gene expression in breast cancer 
BMC Cancer  2008;8:396.
Background
Accuracy in the diagnosis of breast cancer and classification of cancer subtypes has improved over the years with the development of well-established immunohistopathological criteria. More recently, diagnostic gene-sets at the mRNA expression level have been tested as better predictors of disease state. However, breast cancer is heterogeneous in nature; thus extraction of differentially expressed gene-sets that stably distinguish normal tissue from various pathologies poses challenges. Meta-analysis of high-throughput expression data using a collection of statistical methodologies leads to the identification of robust tumor gene expression signatures.
Methods
A resampling-based meta-analysis strategy, which involves the use of resampling and application of distribution statistics in combination to assess the degree of significance in differential expression between sample classes, was developed. Two independent microarray datasets that contain normal breast, invasive ductal carcinoma (IDC), and invasive lobular carcinoma (ILC) samples were used for the meta-analysis. Expression of the genes, selected from the gene list for classification of normal breast samples and breast tumors encompassing both the ILC and IDC subtypes were tested on 10 independent primary IDC samples and matched non-tumor controls by real-time qRT-PCR. Other existing breast cancer microarray datasets were used in support of the resampling-based meta-analysis.
Results
The two independent microarray studies were found to be comparable, although differing in their experimental methodologies (Pearson correlation coefficient, R = 0.9389 and R = 0.8465 for ductal and lobular samples, respectively). The resampling-based meta-analysis has led to the identification of a highly stable set of genes for classification of normal breast samples and breast tumors encompassing both the ILC and IDC subtypes. The expression results of the selected genes obtained through real-time qRT-PCR supported the meta-analysis results.
Conclusion
The proposed meta-analysis approach has the ability to detect a set of differentially expressed genes with the least amount of within-group variability, thus providing highly stable gene lists for class prediction. Increased statistical power and stringent filtering criteria used in the present study also make identification of novel candidate genes possible and may provide further insight to improve our understanding of breast cancer development.
doi:10.1186/1471-2407-8-396
PMCID: PMC2631593  PMID: 19116033
5.  Comparison of Plateletpheresis on the Fenwal Amicus and Fresenius Com.Tec Cell Separators 
Summary
Background
A variety of apheresis devices are now available on the market for plateletapheresis. We compared two apheresis instruments (Fenwal Amicus and Fresenius COM.TEC) with regard to processing time, platelet (PLT) yield and efficiency, and white blood cell (WBC) content.
Material and Methods
Donors undergoing plateletpheresis were randomly separated into two groups (either the Amicus or the COM.TEC cell separator).
Results
In the pre-apheresis setting, 32 plateletpheresis procedures performed with each instrument revealed no significant differences in donors’ sex, age, weight, height and total blood volume between the two groups. However, the pre-apheresis PLT count was higher with the COM.TEC than with the Amicus (198 × 103/μl vs. 223 × 103/μl; p = 0.035). The blood volume processed to reach a target PLT yield of ≥3.3 × 1011 was higher in the COM.TEC compared to the Amicus (3,481 vs. 2,850 ml; p < 0.001). The median separation time was also significantly longer in the COM.TEC than in the Amicus (61 vs. 44 min; p < 0.001). 91 and 88% of the PLT products collected with the Amicus and the COM.TEC, respectively, had a PLT count of >3.3 × 1011 (p = 0.325). All products obtained with both instruments had WBC counts lower than 5 ↔ 106, as required. There was no statistical difference with regard to collection efficiency between the devices (55 ± 15 vs. 57 ± 15%; p = 0.477). However, the collection rate was significantly higher with the Amicus compared to the COM.TEC instrument (0.077 ± 0.012 × 1011 vs. 0.057 ± 0.008 × 1011 PLT/min; p < 0.001).
Conclusion
Both instruments collected platelets efficiently. Additionally, consistent leukoreduction was obtained with both instruments; however, compared with the COM.TEC instrument, the Amicus reached the PLT target yield more quickly.
doi:10.1159/000151351
PMCID: PMC3076329  PMID: 21512626
Plateletpheresis; Apheresis; Amicus; COM.TEC; Cell separator
6.  The Effect of Different Fiber Concentrations on the Surface Roughness of Provisional Crown and Fixed Partial Denture Resin 
Objectives
The aim of this study was to investigate surface roughness in provisional crown acrylics, after polishing, reinforced with different concentrations of glass fibers.
Methods
A total of 48 disk-shaped specimens were prepared using autopolymerizing acrylic resin. These specimens were divided into four groups according to the level of glass fiber added: Group A (no fiber), Group B (0.5%), Group C (1%) and Group D (2%). After polishing the specimens, an average surface roughness (Ra) value was calculated using a profilometer from four randomly selected points on the surface.
Results
A significant difference was determined among the surface roughness values of provisional crown resins to which different concentrations of fiber had been added (P<.001). Tukey’s test was then used to perform paired comparisons of the data between the different groups, and a significant difference was found between Group A (no fiber) and the other groups, between Group B (0.5%) and Group D (2%) and between Group C (1%) and Group D. On the other hand, there was no significant difference between Group B and Group C.
Conclusions
The reinforcement of provisional crown and fixed partial denture resin with glass fibers increases surface roughness.
PMCID: PMC2635901  PMID: 19212545
Provisional restorations; Fiber; Roughness; Resin
7.  Prevalence of Styloid Process Elongation on Panoramic Radiography in the Turkey Population from Cappadocia Region 
Objectives
The aim of this study is to determine the prevalence of styloid process elongation (SPE) detected on panoramic radiographs (PRs) in Cappadocia region population in Turkey and to investigate the SPE incidences in relation to the age subgroups.
Methods
Between 2004 to 2007 years, a random sample of 750 PRs was collected from the data files and any questionable PR was excluded. Therefore, 698 PRs were included in the present study. The subjects were divided into six age subgroups: 10–19, 20–29, 30–39, 40–49, 50–59 and 60 years and older. Fifty-four (7.7%) patients demonstrated SPE at least one side.
Results
There were statistical differences between 10–19, 20–29 age subgroups and 30–39, 50–59 age subgroups in terms of the SPE prevalence, but not other subgroups.
Conclusions
According to our knowledge, this is the highest prevalence in comparison to the other Turkish reports and the first study in terms of the SPE prevalence in Cappadocia region population. Also, the subgroup analyse suggested that the age may not have a role in the elongation of the SP.
PMCID: PMC2633149  PMID: 19212504
Panoramic radiography; Styloid process elongation; Cappadocia region population
8.  Breast cancer in association with thyroid disorders 
Breast Cancer Research : BCR  2003;5(5):R110-R113.
Background
The relationship between breast cancer and thyroid diseases is controversial. Discrepant results have been reported in the literature. The incidences of autoimmune and nonautoimmune thyroid diseases were investigated in patients with breast cancer and age-matched control individuals without breast or thyroid disease.
Methods
Clinical and ultrasound evaluation of thyroid gland, determination of serum thyroid hormone and antibody levels, and fine-needle aspiration of thyroid gland were performed in 150 breast cancer patients and 100 control individuals.
Results
The mean values for anti-thyroid peroxidase antibodies were significantly higher in breast cancer patients than in control individuals (P = 0.030). The incidences of autoimmune and nonautoimmune thyroid diseases were higher in breast cancer patients than in control individuals (38% versus 17%, P = 0.001; 26% versus 9%, P = 0.001, respectively).
Conclusion
Our results indicate an increased prevalence of autoimmune and nonautoimmune thyroid diseases in breast cancer patients.
PMCID: PMC314421  PMID: 12927040
breast; cancer; thyroid

Results 1-8 (8)