Molecular investigation of <Emphasis Type="Italic">WFS1</Emphasis> gene exon 8 in Iranian patients with Wolfram syndrome

Most patients with Wolfram syndrome carry mutations in WFS1, while a lower percentage present a mutation in CISD2 (also known as WFS2). The aim of this study was to investigate the presence of mutations in exon 8 of WFS1 gene in two Iranian patients with Wolfram syndrome (WFS). In this study using polymerase chain reaction (PCR) followed by direct sequencing, we screened the entire length of WSF1 gene exon 8 for presence of mutations. Patients included were two male subjects who developed diabetes mellitus earlier than the age of 8 years old, showing early-onset diabetes, followed by reduced visual acuity, deafness, and diabetes insipidus. The presence of two missense mutations G736D and R629W were confirmed. These mutations have been previously reported in patients with WFS in other populations. Identification of pathogenic mutations in patients with Wolfram syndrome will be helpful in earlier diagnosis of the disease and in understanding the frequency of mutations in various populations and their relation with clinical features of Wolfram syndrome.     

Transcatheter embolization of congenital hepatic arteriovenous malformation using ethylene-vinyl alcohol copolymer (Onyx)

A male infant with high-output heart failure who had been found to have a hepatic arteriovenous malformation by ultrasound imaging was referred to our center (Department of Diagnostic and Interventional Radiology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Islamic Republic of Iran) for further evaluation. Computed tomography angiography revealed a large hepatic arteriovenous malformation with feeders originating from enlarged hepatic arteries and draining to enlarged hepatic veins. We performed a transcatheter embolization of the anomaly using ethylene vinyl alcohol copolymer (Onyx) during a single session. The cardiac function of the infant rapidly improved after the procedure. Over the 19 months of follow-up, his cardiac output remained stable and within the normal limits, and no complications were detected.     

Fatigue, depression and sleep disturbances in Iranian patients with multiple sclerosis

Fatigue is one of the most frequent symptoms in patients with multiple sclerosis (MS) and it is difficult to clarify the nature of this symptom and manage it. This study was aimed to evaluate the frequency of fatigue, depression and sleep disturbances in Iranian patients with MS. 100 patients from the outpatient MS clinic of Sina hospital were asked to complete Beck Depression Inventory (BDI), Pittsburg Sleep Quality Index (PSQI), Sleep Disorder Questionnaire (SDQ), Modified Fatigue Impact Scale (MFIS) and Epworth Sleepiness Scale (ESS) questionnaires. Student's t-test, ANOVA, Spearman correlation and Stepwise multiple linear regressions by SPSS version 15.0 were used for data analysis. From participants, 64 had fatigue complaint during day time and 36 did not feel fatigued. BDI, PSQI, MFIS and SDQ scores were significantly higher in fatigued patients than non-fatigued group but there were no statistically significant differences in ESS, EDSS and duration of disease between fatigued and non-fatigued cases. There were significant correlations between MFIS and BDI scores (r=0.49, P=0.01), MFIS and PSQI scores (r=0.399, P=0.01) and MFIS and ESS (r=0.25, P=0.01). This study demonstrates that depression is not the only cause of fatigue in patients with MS and it is also associated with sleep disorders, so this complaint should be carefully evaluated and managed in these patients.     

Prevalence of vitamin d deficiency and rickets in children with cholestasis in iran

This study was aimed to determine prevalence of Vitamin D deficiency and rickets in children with cholestatic liver diseases. Forty eight children with established cholestatic liver disease who referred to gastrointestinal clinic of Children Medical Center (Tehran, Iran) between April 2010 and March 2011 were enrolled in a cross-sectional study. Laboratory analysis including calcium, phosphate, albumin, total and direct bilirubin, aminotransferases, alkalinephosphatase (ALP), prothrombin time (PT), parathyroid hormone (PTH), total protein determined by routine laboratory techniques. Mean age of participants was 299.1 ± 676.8 days (range 2-3600 days) whereas twenty one were female (43.8%) and 27 (56.3%) were male. Twenty two (45.8%) had evidences of rickets in X-ray evaluation. Three children with rickets and two with normal X-ray had Vitamin D deficiency while ten in rickets group and 16 in normal group had Vitamin D insufficiency. The main underlying diseases were anatomical biliary atresia in cases with rickets and idiopathic in other group. Rickets and Vitamin D deficiency should be considered in chronic cholestatic children.     

Black aspergilli as causes of otomycosis in the era of molecular diagnostics,a mini-review

Otomycosis refers to the fungal infection of the external auditory canal, and less commonly the middle ear. A wide range of fungi can cause this disease, however, the most common etiologies are species of Aspergillus and Candida. Until recent years, Aspergillus niger was thought to be the prevailing species of the genus Aspergillus that causes otomycosis. Using molecular methods, now, it is known that Aspergillus section Nigri comprises several morphologically similar species and all black Aspergillus isolates are not necessarily equivalent to Aspergillus niger. In this review, we focus on the species within the Aspergillus section Nigri and their role as the causative agents of otomycosis.     

A comprehensive review of IL-26 to pave a new way for a profound understanding of the pathobiology of cancer,inflammatory diseases and infections

Cytokines are considered vital mediators of the immune system. Down- or upregulation of these mediators is linked to several inflammatory and pathologic situations. IL-26 is referred to as an identified member of the IL-10 family and IL-20 subfamily. Due to having a unique cationic structure, IL-26 exerts diverse functions in several diseases. Since IL-26 is mainly secreted from Th17, it is primarily considered a pro-inflammatory cytokine. Upon binding to its receptor complex (IL-10R1/IL-20R2), IL-26 activates multiple signalling mediators, especially STAT1/STAT3. In cancer, IL-26 induces IL-22-producing cells, which consequently decrease cytotoxic T-cell functions and promote tumour growth through activating anti-apoptotic proteins. In hypersensitivity conditions such as rheumatoid arthritis, multiple sclerosis, psoriasis and allergic disease, this cytokine functions primarily as the disease-promoting mediator and might be considered a biomarker for disease prognosis. Although IL-26 exerts antimicrobial function in infections such as hepatitis, tuberculosis and leprosy, it has also been shown that IL-26 might be involved in the pathogenesis and exacerbation of sepsis. Besides, the involvement of IL-26 has been confirmed in other conditions, including graft-versus-host disease and chronic obstructive pulmonary disease. Therefore, due to the multifarious function of this cytokine, it is proposed that the underlying mechanism regarding IL-26 function should be elucidated. Collectively, it is hoped that the examination of IL-26 in several contexts might be promising in predicting disease prognosis and might introduce novel approaches in the treatment of various diseases.     

The Effect of Dietary Intervention Along with Nutritional Education on Reducing the Gastrointestinal Side Effects Caused by Chemotherapy Among Women with Breast Cancer

Gastrointestinal (GI) side effects caused by chemotherapy in women with breast cancer are common but poorly understood which might be controlled by nutritional intervention. Thus, the major aim of this study was to assess the effect of dietary intervention along with nutritional education on reducing these side effects. The present study is a single-center, single-controlled, and randomized trial. A total of 150 patients with breast cancer undergoing chemotherapy were randomly assigned into intervention group to receive dietary intervention and nutritional education (n?=?73) or control group (n?=?67) for 10?weeks, after their three sessions of chemotherapy. The primary endpoint was the GI symptoms after each session of chemotherapy that were measured by a designed questionnaire based on ROMIII questionnaire. The severity of GI side effects in the dietary intervention along with nutritional education was decreased significantly in the third session of chemotherapy compared to the first session, which include reflux disorder (P?=?0.05), anorexia (P?<?0.001), nausea (P?=?0.002), constipation (P?<?0.001), and diarrhea (P?<?0.001). Moreover, significant reductions were observed in the severity of GI side effects in the intervention group compared to control group after the third session (P?<?0.001). After adjusting the analysis for baseline values including age, job, education level, weight, and body mass index, significant changes were observed for GI side effects in the intervention group compared to the control group (P?<?0.001). This study showed beneficial effects of individualized dietary intervention along with nutritional education on reducing diarrhea, constipation, vomiting, and nausea in women with breast cancer during the chemotherapy.     

Effect of Probiotic,Prebiotic, and Synbiotic Supplementation on Cardiometabolic and Oxidative Stress Parameters in Patients With Chronic Kidney Disease: A Systematic Review and Meta-analysis

PurposeChronic kidney disease (CKD) is a major health problem worldwide. Evidence supporting the use of probiotic, prebiotic, and synbiotic supplementation in the management of CKD is mixed, although some studies suggest they may be useful. A systematic review and meta-analysis was performed to evaluate the effectiveness of probiotic, prebiotic, and synbiotic supplementation for improving cardiometabolic and oxidative stress parameters in patients with CKD.MethodsA comprehensive key word search was performed in EMBASE, Medline, Scopus, Cochrane Central, and Web of Science until April 2020. Randomized controlled trials investigating the effectiveness of probiotic, synbiotic, and prebiotic supplementation for the management of adults with CKD were included. Primary outcomes were measures of cardiometabolic parameters such as cholesterol and fasting blood glucose. Secondary outcomes were measures of oxidative stress (eg, malondialdehyde levels) and body mass index. Random effects meta-analyses were used to estimate mean treatment effects. Results are reported as standardized mean differences (SMDs) and 95% CIs.FindingsFourteen articles were included. In patients with CKD, probiotic, prebiotic, and synbiotic supplementation significantly reduced total cholesterol (SMD, ?0.25; 95% CI, ?0.46 to ?0.04; I² = 00.0%), fasting blood glucose (SMD, ?0.41; 95% CI, ?0.65 to ?0.17; I² = 00.0%), homeostatic model assessment of insulin resistance (SMD, ?0.63; 95% CI, ?0.95 to ?0.30; I² = 43.3%), insulin levels (SMD, ?0.49; 95% CI, ?0.90 to ?0.08; I² = 65.2%), high-sensitivity C-reactive protein levels (SMD, ?0.52; 95% CI, ?0.81 to ?0.22; I² = 52.7%), and malondialdehyde levels (SMD, ?0.79; 95% CI, ?1.22 to ?0.37; I² = 69.8%) compared with control interventions. Supplementation significantly increased the quantitative insulin sensitivity check index (SMD, 0.78; 95% CI, 0.51 to 1.05; I² = 00.0%), total antioxidant capacity (SMD, 0.42; 95% CI, 0.18 to 0.66; I² = 00.0%), and glutathione levels (SMD, 0.52; 95% CI, 0.19 to 0.86; I² = 37.0%).ImplicationsProbiotic, prebiotic, and synbiotic supplementation seems to be a promising intervention for improving cardiometabolic and oxidative stress parameters in patients with CKD.     

The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran

α-Thalassemia (α-thal) is one of the most common genetic disorders worldwide. The aim of this study was to investigate for the first time the α-thal mutation spectrum in the Lak population living in Lorestan Province, Iran. One hundred and seventy-six α-thal carriers participated in the study. Multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system (ARMS)-PCR and direct sequencing were used for the detection of different mutations on the α-globin (HBA1 and HBA2) genes. A total of 11 different mutations was identified. The –α^3.7 (rightward; NG_000006.1: g.34164_37967del3804) deletion was observed most frequently (56.35%), followed by α^?5?ntα (HBA2: c.95+2_95+6delTGAGG), α^polyA2α (HBA2: c.*92A>G) and – –^{MED I} (NG_000006.1: g.24664_41064del16401), with frequencies of 15.47, 9.39, and 6.08%, respectively. These four mutations accounted for more than 87.0% of the total mutated alleles. Moreover, 19 different genotypes were identified. The types and distribution pattern of the mutations identified in this study, in comparison with other studies conducted in Iran, was most similar to the Kurdish population of Kermanshah Province, Iran. Due to the lack of information on α-thal in Lorestan Province, it was not possible to compare the mutation spectrum in the Lur and Lak populations. In conclusion, our results may help in setting up a strategy for an α-thal screening program and genetic counseling in the Lak people.