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1.  The Relationship between STR-PCR Chimerism Analysis and Chronic GvHD Following Hematopoietic Stem Cell Transplantation 
Background: The study attempts to assess the relationship between chimerism analysis using polymerase chain reaction of short tandem repeat (STR) and the incidence of chronic graft versus host disease (GvHD) as well as survival.
Subjects and Methods: The retrospective cohort included all patients who received allo-HSCT during 2005-2013. Data collected by day +100 were reviewed in terms of the incidence of chronic GvHD and survival. Chimerism was evaluated for whole blood, T-cell and PMN cells on days 15, 30 and 60, respectively using polymerase chain reaction of short tandem repeat (STR).
Results: Forty (69%) patients developed chronic GvHD, 11 (19%) relapsed and 22 (39.7%) expired during the study. There was a significant relationship between chronic GvHD and chimerism analysis including whole blood on day 60 (p=0.001), Polymorphonuclear neutrophil (PMN) on day 60 (p=0.05), T-cell on days 15 (p=0.028), 30 (p=0.01) and 60 (p=0.004). Patients with chronic GvHD showed a long-term survival as compared with those without chronic GvHD (p=0.0013).
Conclusion: Conducting continuous analysis of chimerism provides an opportunity to initiate immediate measures in order to prevent complications.
PMCID: PMC5338278
Hematopoietic stem cell transplantation; Chronic GvHD; Chimerism; Polymerase chain reaction
2.  Sensitive High-Resolution Melting Analysis for Screening of KRAS and BRAF Mutations in Iranian Human Metastatic Colorectal Cancers 
Background:
Investigations of methods for detection of mutations have uncovered major weaknesses of direct sequencing and pyrosequencing, with their high costs and low sensitivity in screening for both known and unknown mutations. High resolution melting (HRM) analysis is an alternative tool for the rapid detection of mutations. Here we describe the accuracy of HRM in screening for KRAS and BRAF mutations in metastatic colorectal cancer (mCRCs) samples.
Materials and Methods:
A total of 1000 mCRC patients in Mehr Hospital, Tehran, Iran, from Feb 2008 to May 2012 were examined for KRAS mutations and 242 of them were selected for further assessment of BRAF mutations by HRM analysis. In order to calculate the sensitivity and specificity, HRM results were checked by pyrosequencing as the golden standard and Dxs Therascreen as a further method.
Results:
In the total of 1,000 participants, there were 664 (66.4%) with wild type and 336 (33.6%) with mutant codons 12 and/or 13 of the KRAS gene. Among 242 samples randomly checked for the BRAF gene, all were wild type by HRM. Pyrosequencing and Dxs Therascreen results were in line with those of the HRM. In this regard, the sensitivity and specificity of HRM were evaluated as 100%.
Conclusion:
The findings suggest that the HRM, in comparison with DNA sequencing, is a more appropriate method for precise scanning of KRAS and BRAF mutations. It is also possible to state that HRM may be an attractive technique for the detection of known or unknown somatic mutations in other genes.
doi:10.22034/APJCP.2016.17.12.5147
PMCID: PMC5454650  PMID: 28122448
High-Resolution Melting (HRM); mutation analysis; metastatic colorectal cancer (mCRC)
3.  Comparing Efficacy of Preoperative neo-Adjuvant Chemotherapy and Surgery versus Surgery Alone in Patients with Resectable Gastroesophageal Cancer 
Background
Recent researches have led to find strategies to prevent relapse and to improve survival for gastric cancer patients, including preoperative neo-adjuvant approaches. However, the efficacy of some neo-adjuvant regimens including 5-fluorouracil, cisplatin, and docetaxel have been less investigated. The present study evaluated the outcome and mid-term survival of patients with gastric cancer who undergoing this regimen.
Methods
In a randomized double-blinded controlled trial performed at the Firoozgar hospital in Tehran in 2011-12, 61 patients were randomly assigned to treatment (32 to neo-adjuvant chemotherapy with docetaxel, cisplatin and 5-fluorouracil (5-FU) before surgery and 27 to surgery alone). The present study tried to assess the efficacy of neoadjuvant chemotherapy regarding improvement of mid-term survival, complications, and R0 resection status.
Results
The two groups were matched in terms of gender, mean age, cancer location, and TNM staging. However, R0 resection in the former group was 85.7%; while this indicator in the isolated surgery group was significantly lower (61.5%). Regarding WHO performance, no significant difference was observed across the two groups. Patients in neo-adjuvant chemotherapy group were followed for mean follow-up time 10.32 months and those who categorized in isolated surgery group were followed for mean follow-up time 10.88 months. Mid-term mortality rate in the two groups was 14.3% and 15.4%, respectively (p = 0.866). In this regard, 3-, 6-, and 9-month survival rate in neo-adjuvant chemotherapy group was 96.4%, 89.3%, and 85.7%, respectively. These survival rates in the surgery group were 92.3%, 88.5%, and 84.6%, respectively. Multivariable logistic regression analysis showed that among all study variables, only R0 resection status could predict mid-term mortality.
Conclusion
Neo-adjuvant chemotherapy and surgery compare to surgery alone more improve R0 resection status, but mid-term survival rate is similar in the two regiments. R0 resection status can effectively predict appropriate mid-term survival in undertreated patients.
PMCID: PMC3915424  PMID: 24505539
Gastroesophageal junction; Mortality; Chemotherapy; Surgery
4.  Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations 
Summary
Background
Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder in white people, characterized by highly abnormal uptake of iron from the gastrointestinal tracts. Recently, mutation studies have focused to detect the genes responsible for HH.
Material/Methods
In this cross-sectional study, 12 HH patients were recruited, who were referred to Firoozgar Hospital, Tehran, Iran. In addition to the clinical assessments, a complete laboratory evaluation, imaging modalities, histopathologic assessment, atomic absorption spectrophotometry and gene mutation study were performed. The genetic study for HFE gene mutation was examined for all of the patients since 2006, while non-HFE mutation was conducted since December 2010 (only for 1 of them).
Results
Twelve patients were evaluated consisting of 11 men and 1 woman, with the mean age of 39.58±12.68 yr. The average of atomic iron loads was 13.25±4.83-fold higher than normal standards. Four patients had heterozygotic mutation of H63D (33.3%). There was no significant difference in either the iron load of liver (P=0.927) and heart (P=0.164) or serum concentration of ferritin (P=0.907) and TIBC (P=0.937) between the HFE-mutant and without HFE mutation HH cases.
Conclusions
In contrast to other studies, C282Y mutation was not detected in any of our Iranian HH patients. Heterozygotic mutations of H63D (HFE) and TFR2 (non-HFE) genes were found to be more common in these patients. Similar to previous reports, these mutations were not found to be significantly associated with severity of presentation in HH patients.
doi:10.12659/MSM.883489
PMCID: PMC3560564  PMID: 23018356
hereditary hemochromatosis; gene mutation; iron overload

Results 1-4 (4)