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Background Hereditary ichthyosis is a clinically and genetically heterogeneous disorder associated with more than 50 genes with TGM1 , ALOX12B , and ALOXE3 being the most prevalent. Establishing an accurate diagnosis is important for effective genetic counseling and optimal patient management. Objective We studied the diagnostic value of whole exome sequencing (WES) in a small case series with hereditary ichthyosis. Methods During a 1-year period, index cases of 5 unrelated families clinically diagnosed with hereditary ichthyosis went through WES, followed by extensive segregation analysis. Prenatal diagnosis (PND) was conducted where indicated. Results We identified 4 homozygous variants-2 in TGM1 (c.655A > G and c.797A > G) and 2 in ALOX12B (c.527 + 2 T > G and c.1654G > T)-alongside a heterozygous variant in TGM1 (c.428G > A) in 5 families. The variants were all pathogenic/likely pathogenic according to the ACMG classification and segregation analysis, except for c.797A > G in TGM1 which remained a variant of unknown clinical significance. Four variants were novel. All families were referred either during pregnancy or before reproductive planning; 4 benefited from WES as it identified the mutation in the probands and enabled carrier detection in at-risk relatives; PND was conducted in 2 families. Conclusion Our findings further support WES is a powerful tool for the comprehensive, accurate, and rapid molecular diagnosis of hereditary ichthyosis and can offer opportunities for reproductive planning, carrier screening and prenatal diagnosis to at-risk families.

Membranous nephropathy (MN) has variable clinical outcomes, ranging from spontaneous remission to slow progression to kidney failure. Since the clinical outcomes of MN have not been studied in a large sample size in Iran, this study was designed to evaluate the outcome of patients diagnosed with MN at Hasheminejad Kidney Center (HKC), Tehran. In this retrospective cohort study, 1086 patients with a diagnosis of MN who were biopsied between 1998 and 2018 in HKC were evaluated through a review of medical records for baseline clinical and laboratory characteristics at the time of biopsy and through a review of follow-up charts and phone calls for the evaluation of clinical outcomes. Of these patients, 551 could be followed for clinical outcomes. The composite outcome included kidney loss (hemodialysis, transplantation, or death). The effect of demographic, clinical, laboratory, and pathological variables on kidney survival was determined by the Cox-regression model using SPSS-16 software at a significance level of .05. Sex (P < .05), higher weight (P < .05), older age (P < .001), hypertension (P < .001), higher baseline proteinuria and lower glomerular filtration rate (GFR) at the onset of the disease were associated with kidney failure (P < .001). A higher percentage of interstitial fibrosis, tubular atrophy, global sclerosis, and a higher pathological class of membranous nephropathy were significantly associated with disease outcome in the univariate Cox-regression analysis (P < .001). Kidney survival rates at 5, 10, and 15 years were 86%, 74%, and 56%; respectively. Our study suggests that baseline demographic, clinical and laboratory factors affect kidney outcomes. Patients who are considered high-risk based on the criteria listed above may need to be candidates for more aggressive therapy.

Background: Gastrointestinal (GI) neoplasms are among the most common cancers in Iran. This study aimed to measure annual trends in mortality rates from GI cancers in Iran between 1990 and 2015. Methods: This study was part of an ongoing study termed the ‘National and Subnational Burden of Diseases’ study in Iran. Data used in this study was obtained from the Iranian Death Registration System (1995 to 2010) and from 2 major cemeteries in Tehran (1995 to 2010) and Isfahan (2007 to 2010). All-cause mortality rates were estimated using the spatio-temporal model and the Gaussian process regression model. Age-standardized mortality rates (ASMR) per 100 000 person-years was calculated using data from Iran and the standard world population for comparison. Results: Among GI cancers, gastric cancer represented the leading cause of mortality followed by cancers of the esophagus, liver, and colorectal cancers with the ASMR of 20.5, 5.8, 4.4, and 4.0 per 100 000 persons-years, respectively, between 1990 and 2015. While a decreasing trend occurred in mortality of esophageal, gastric, and colorectal cancers, particularly in the recent decade, we recorded an upward pattern and steady rise in mortality rates from liver, pancreatic, and gallbladder cancers during the study period. The ASMR of all studied causes were enhanced by advancing age and were found to be more prominent in adults aged 50 or older. Among all age-groups, higher death rates were detected in males versus females for all studied cancers except for gallbladder and biliary tract cancers. Conclusion: Gastric cancer mortality is still high and death rates from several other GI cancers are increasing in the nation. Interventions for cancer prevention, early detection, and access to high quality cancer treatment services are needed to reduce GI cancer burden and death rates in Iran and in the region.

Background: Under-five mortality is considered an indicator of population well-being and health equality in societies. Under-five mortality caused by nutritional deficiencies is a public health concern in developing countries. In this study, we aimed to report the trend and mortality rate of nutritional deficiencies from 1995 to 2015 in children aged under five years.Methods: In this study, we used the death registration system (DRS) data to estimate age- and sex-specific nutritional deficiency mortality rates at national and sub-national levels in Iran from 1995 to 2015. The Iranian DRS used the 10th revision of International Classification of Diseases (ICD-10) but we report our results based on Global Burden of Diseases (GBD) study codes. We used the average annual percent change (AAPC) to quantify trend in under-five mortality rate attributable to nutritional deficiencies from 1995 to 2015.Results: At national level, mortality rates in both sexes were 8.53 (95% uncertainty interval [UI]: 7.69–9.47), 1.04 (0.86–1.36), and 0.37 (95% UI: 0.28–0.57) per 100,000 in 1995, 2005, and 2015, respectively. AAPC was estimated between 1995 and 2015. At sub-national level, the highest and lowest mortality rates across provinces ranged from 17.7 per 100000 in 1995 to 1.1 per 100000 in 2015. In the latest years, protein-energy malnutrition (PEM) was the most frequent cause of mortality among other nutritional deficiencies.Conclusion: The results show a substantial reduction in terms of mortality caused by nutritional deficiencies at national, as well as provincial, level among children under-five years of age.