Very Severe Spinal Muscular Atrophy (Type 0): A Report of Three Cases

ObjectiveWe describe three patients with very severe Spinal Muscular Atrophy (SMA) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. In all infants, electrodiagnostic studies were compatible with a neurogenic pattern. In genetic studies, all cases had homozygous deletions of exons 7 and 8 of Survival Motor Neuron (SMN) and exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP) gene. SMA should be considered in the differential diagnosis of reduced fetal movement and respiratory insufficiency at birth

Colorectal Cancer in Iran: Molecular Epidemiology and Screening Strategies

Purpose. The increasing incidence of colorectal cancer (CRC) in the past three decades in Iran has made it a major public health burden. This study aimed to report its epidemiologic features, molecular genetic aspects, survival, heredity, and screening pattern in Iran. Methods. A comprehensive literature review was conducted to identify the relevant published articles. We used medical subject headings, including colorectal cancer, molecular genetics, KRAS and BRAF mutations, screening, survival, epidemiologic study, and Iran. Results. Age standardized incidence rate of Iranian CRCs was 11.6 and 10.5 for men and women, respectively. Overall five-year survival rate was 41%, and the proportion of CRC among the younger age group was higher than that of western countries. Depending on ethnicity, geographical region, dietary, and genetic predisposition, mutation genes were considerably diverse and distinct among CRCs across Iran. The high occurrence of CRC in records of relatives of CRC patients showed that family history of CRC was more common among young CRCs. Conclusion. Appropriate screening strategies for CRC which is amenable to early detection through screening, especially in relatives of CRCs, should be considered as the first step in CRC screening programs

Association of CFI p.Gly119Arg gene polymorphism with age-related macular degeneration (AMD) disease in the population living in Tehran

Background: Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and is characterized by progressive degeneration of the retinal pigment epithelium and secondary photoreceptor loss, resulting in visual loss. Etiological research suggests that age related macular degeneration is a complex disease, caused by the interactions of several genetic and environmental factors. Polymorphisms in genes encoding the alternative complement pathway, complement factor I (CFI), are associated with the risk for age related macular degeneration. The purpose of this investigation was studying of complement factor I p.Gly119Arg (C.355G>A) polymorphism with age related macular degeneration in the population living in Tehran, Iran. Methods: This case-control study was conducted at Tabriz University from June 2015 to June 2016. In this study the association of p.Gly119Arg polymorphism in complement factor I gene was investigated in 150 patients suffering from age-related macular degeneration and 150 healthy age, sex and ethnicity matched unrelated people as control group. Both of the case and control groups were originated from the population living in Tehran. Genotypes of both groups were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and data was analyzed the Chi-square test in 2x2.Contingency table. Results: Investigation of the association of p.Gly119Arg polymorphism in complement factor I gene with age related macular degeneration showed that there are statistically significant differences between patients and controls in genotype and allele frequencies of this polymorphism (P=0.005 and OR=6.68 in TT, P=0.04 and OR=0.61 in CC, P=0.03 and OR=1.76 in T, P=0.04 and OR=0.56 in C). Therefore CC, TT genotypes and C, T alleles were significantly associated with age related macular degeneration. Conclusion: This study showed a significant association between this polymorphism p.Gly119Arg (C.355G>A) complement factor I gene and age related macular degeneration disease in the population living in Tehran (P<0.05). Our data suggests that this locus polymorphism is not as rare in our studied population as previously reported from different population

Gene Polymorphisms in FMF and Their Association With Amyloidosis α Tumor Necrosis Factor- Tumor Necrosis Factor-α Gene Polymorphisms in FMF and Their Association With Amyloidosis

Abstract Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by periodic provocative attacks of fever with peritonitis, pleuritis, arthritis, or eriseplemya. Tumor necrosis factor-a (TNF-a) plays an important role in the regulation of the immune response as a part of the cytokine network, including activation of macrophages and apoptosis. We investigated the possible association of TNF-a promoter À1031T/C and À308G/A polymorphisms in 86 FMF patients carrying M694 V homozygous mutation and 100 matched healthy controls both from Iranian Azeri Turks. Our data showed that patients with TNF-a À308 GG are more susceptible to the development of amyloidosis and arthritis (P value &lt;.05). These data also showed that the frequency of TNF-a À308 A allele is considerably low among patients with amyloidosis, and it may have protective role among them (odds ratio [OR] ¼ 0.083, w 2 ¼ 5.46, P value ¼ .003). Further evaluation of this polymorphism may be important and need further studies

The Emergence of Fritillaria imperialis in Written References of Traditional Persian Medicine: a Historical Review

Fritillaria plant belongs to the lily family (Liliaceae) and naturally grows in cold areas, highlands, rocky slopes and cliffs. This study examines the emergence of this plant in the written references of Traditional Persian Medicine (TPM). In this research, we searched native names of Fritillaria imperialis (laleh sarnegoun) in outstanding references of TPM including: Almansori fi Teb, Al-Qanon fi Teb, Al-saidana fi Teb, Al-Abnieh an Haghayegh Al-Advieh, Al-Aghraz Al-Tibbia, Ekhtiyarat Badi’i, Al-Mo’tamed fi Al-AdviehAl-Mofrade, Tazkereh-ye Davoud, Tohfeh Al-Momenin, Makhzan Al-Aladvieh and MohitA’azam. Fritillaria is one among thousands of medical materials added to the pharmacopeia books in TPM from Avicenna’s era (the 4th century AH) up to the13th century AH. In our review, the first report of Fritillaria was found in the book of Tohfeh Al-Mo'menin written by Hakim Mo’men Tonekaboni. He discovered the therapeutic effect of the oil of Fritillaria imperialis against sciatica. TPM was represented as a dynamic medicine, culture characterized by continual expansion of its written references

Association of plasminogen activator inhibitor-1 gene polymorphism with inflammatory bowel disease in Iranian Azeri Turkish patients

Background/Aim: Previous studies have shown the association of some genetic factors, such as Plasminogen activator inhibitor type-1 (PAI-1) 4G/5G polymorphism, with the development of inflammatory bowel disease (IBD). We aimed to study this polymorphism as a risk factor in IBD patients in this cohort. Patients and Methods: One hundred and fifteen IBD patients and 95 healthy controls were selected from Iranian Azeri Turks and -6754G/5G polymorphism of PAI-1 gene was tested by polymerase chain reaction using allele-specific primers confirmed by sequencing. Results: There was no significant difference of PAI-1 polymorphism between IBD patients and the control group (P > 0.05). Furthermore, these data showed no significant difference between Crohn′s disease and ulcerative colitis patients. However, 4G/4G homozygotes have reduced probability to progression of loss of appetite, whereas 5G/5G genotypes have increased risk for development of chronic diarrhea without blood, nausea, and loss of appetite. Conclusions: Although our study showed no significant association of PAI-1 polymorphism between patients and control group, the carriers of 4G/4G genotype and 4G allele had reduced risk for the progression of IBD features in this cohort

Effect of the C3435T polymorphism of the multidrug resistance 1 gene on the severity of inflammatory bowel disease in Iranian Azeri Turks

Background/Aim: Multidrug resistance 1 (MDR1) gene encodes for P-glycoprotein (P-gp), a transmembrane efflux pump transferring both exogenous and endogenous substrate from the cells. In the human gastrointestinal tract, P-gp is found in high concentrations on the epithelial cells of the colon and small intestine. It is hypothesized that the expression level of MDR1 gene is related to susceptibility of both forms of inflammatory bowel disease (IBD). The aim of this study was to investigate the association of C3435T Single Nucleotide Polymorphism in IBD patients with/without clinical symptoms in Iranian Azeri Turks. Settings and Design: A total of 116 patients with IBD and 92 healthy subjects were analyzed. Materials and Methods: We investigated the distribution of MDR1 C3435T polymorphism via polymerase chain reaction - Restriction Fragment Length Polymorphism technique. Statistical Analysis Used: All statistical analyses were calculated with the SPSS for Windows 16.0. The Fisher exact test was used to test for departure from Hardy-Weinberg equilibrium of the genotype frequencies ( P > 0.05). Results: The data showed that IBD patient with homozygous variant carrying MDR1 3435 T/T genotype has elevated risk for development of routine IBD clinical symptoms like Abdominal pain ( P = 0.005) and chronic Diarrhea ( P = 0.013) compared with MDR1 3435 C/C homozygotes who has reduced risk for development of IBD symptoms. Conclusions: Our data showed that patients with MDR1 3435 T/T are more susceptible to the development of some routine IBD clinical symptoms ( P < 0.05). This study suggests a protective role for the MDR1 3435 C/C versus MDR1 3435 T/Tgenotype and C versus T allele for the progression of IBD in this cohort

Association of combined cigarette smoking and <i>ARMS2/LOC387715 A69S</i> polymorphisms with age-related macular degeneration: A meta-analysis

<p><i>Purpose</i>: The age-related maculopathy susceptibility2 (<i>ARMS2</i>)/<i>LOC387715 A69S</i> (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined <i>ARMS2/LOC387715</i> genotypes and cigarette smoking with AMD to estimate the possible synergistic or multiplicative effects.</p> <p><i>Methods</i>: Heterogeneity of studies was evaluated using the Cochran Q-test and the I-square index. To compensate for the heterogeneity of the variables in the study we used a random effects model. Meta-analysis was performed using STATA. To estimate the additive or supra-additive effects, we calculated relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), synergy index (S), and multiplicative index (V).</p> <p><i>Results</i>: We could include four studies with 1982 AMD patients and 1797 control subjects. Considering the GG-no smoking as a reference line the meta-analysis result of AMD odds ratios for stratified combined factors was 3.05 (95% CI 2.32–4.02) for nonGG-no smoking, 2.24 (95% CI 1.39–3.63) for GG-smoking and 4.59 (95% CI 3.51–6.01) for nonGG-smoking. The meta-analysis of synergy analysis revealed RERI = 2.01 (95% CI 1.01–3.25), AP = 0.40 (95% CI 0.22–0.54), S = 2.02 (95% CI 1.35–3.01), and V = 1.31 (95% CI 0.94–1.83).</p> <p><i>Conclusion</i>: This analysis revealed the synergistic effect of these two factors indicating that there is a common pathway of <i>ARMS2/LOC387715</i> and smoking in AMD pathogenesis which may be the complement system pathway.</p