Alport Syndrome: Clinical Spectrum and Therapeutic Advances.

Alport syndrome is a hereditary disorder characterized by kidney disease, ocular abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport syndrome and the molecular composition of the glomerular basement membrane ultimately led to the identification of , (both on chromosome 2q36), and (chromosome Xq22), encoding the α3, α4, and α5 chains of type IV collagen, as the responsible genes. Subsequent studies suggested that autosomal recessive Alport syndrome and males with X-linked Alport syndrome have more severe disease, whereas autosomal dominant Alport syndrome and females with X-linked Alport syndrome have more variability.

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.

Background: Steroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the past decade, extensive genetic heterogeneity has become evident while disease-causing variants are still only identified in 30% of cases in previously reported studies with proportion and type of variants identified differing depending on the age of onset and ethnical background of probands.

New Report of a Different Clinical Presentation of Splicing Mutation (c.351+2T>C): Could be Considered as a Potential Modifier Gene for ?

CD151, a member of the tetraspanin family, is essential for normal development of skin and kidney. To date, only 2 pathogenic variants of the gene have been identified in a related disorder with recessive inheritance. Here, in the third study of mutations, we report 3 affected siblings presenting variable degrees of renal and dermal symptoms.

Cigarette Smoking Behavior a Gateway to Opium Use Disorder: A Mendelian Randomization Analysis.

Gateway hypothesis presumes that using a psychotropic drug can increase the probability of using another drug. The study was to assess whether cigarette smoking is a gateway drug for subsequent opium use. Mendelian randomization (MR) analysis was applied to test and estimate the size of causal effect of cigarette smoking on opium use.

Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.

Introduction: Nephrotic syndrome is a heterogeneous disease in children, with nearly 10% categorized as steroid-resistant. In this study we evaluated disease related mutations within NPHS1, NPHS2 and new potential variants in other genes.

Methods: In the first phase of study, 25 patients with SRNS were analyzed by Sanger sequencing for NPHS1 (exon 2, 26) and all exons of NPHS2 genes.

Association of homeobox B13 (HOXB13) gene variants with prostate cancer risk in an Iranian population.

Prostate cancer is a complex condition in which both genetic and environmental factors concomitantly contribute to the tumor initiation and progression. Recently, HOXB13 has been proposed as a susceptibility gene for prostate cancer. The present study was conducted to determine the existence of potential variations in HOXB13 gene in Iranian men with prostate cancer (PCa) compared to benign prostatic hyperplasia (BPH) cases.

Association between tobacco smoking and opioid use: A meta-analysis.

Background: Tobacco smoking has been shown to be a major risk factor for opioid use and opioid use disorders in several observational studies; however, the results are inconsistent. Thus, this systematic review and meta-analysis of observational studies was conducted to investigate the association between smoking behavior and opioid use and opioid use disorders.

Methods: A systematic literature search of relevant keywords was done in Medline, Embase, Scopus, Web of Science, and Google Scholar up to October 2017.

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria.

Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, including exons 6, 7, 8, 11, and 12 were studied through polymerase chain reaction and sequencing techniques.

The association between polymorphism of the BDNF gene and cigarette smoking in the Iranian population.

Background: Cigarette smoking remains a serious public health problem. Environmental and genetic factors both play critical roles in the process of cigarette smoking. We aimed to investigate the associations between single nucleotide polymorphisms (SNP) in the BDNF gene and cigarette smoking in the Iranian population.

The effects of omega-3 and vitamin E co-supplementation on parameters of mental health and gene expression related to insulin and inflammation in subjects with polycystic ovary syndrome.

Objective: The aim of this study was to evaluate the effects of omega-3 and vitamin E co-supplementation on parameters of mental health and gene expression related to insulin and inflammation in subjects with polycystic ovary syndrome (PCOS).

Methods: Forty PCOS women were allocated into two groups and treated with 1000mg omega-3 fatty acids plus 400 IU vitamin E supplements (n = 20) or placebo (n = 20) per day for 12 weeks. Parameters of mental health were recorded at baseline and after the 12-week intervention.

Rectal Thiopental versus Intramuscular Ketamine in Pediatric Procedural Sedation and Analgesia; a Randomized Clinical Trial.

Introduction: Physicians frequently deal with procedures which require sedation of pediatric patients. Laceration repair is one of them. No study has been performed regarding the comparison between induction of sedation with sodium thiopental and ketamine in laceration repair.

Mutation analysis of androgen receptor gene: multiple uses for a single test.

Androgen receptor gene mutations are one of the leading causes of disorders of sex development (DSD) exhibited by sexual ambiguity or sex reversal. In this study, 2 families with patients whom diagnosed clinically as androgen insensitivity syndrome (AIS) were physically and genetically examined. This evaluation carried out by cytogenetic and molecular analysis including karyotype and sequencing of SRY and AR genes.

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.

Background: Mental retardation (MR) has a prevalence of 1-3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4-28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used.

Novel nucleotide changes in mutational analysis of mitochondrial 12SrRNA gene in patients with nonsyndromic and aminoglycoside-induced hearing loss.

Mitochondria have essential role in cellular energy metabolism and defects in their function lead to many metabolic diseases. Mitochondrial DNA (mtDNA) mutations have been associated with number diseases such as nonsyndromic and aminoglycoside-induced hearing loss. Mutational screening of entire 12SrRNA and tRNA (ser (UCN)) genes in 107 unrelated Iranian patients with amino glycoside-induced and nonsyndromic bilateral hearing loss by direct sequencing analysis method were performed.

Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.

Terminal 7q duplication and terminal 13q deletion are two conditions with variable phenotypes including microcephaly, thumb a-/hypoplasia, cortical dysplasia, microphtalmia, intellectual disability and dysmorphic features. We describe a boy born to a mother with a reciprocal t (7;13) who combines both a terminal 7q33-qter duplication and terminal 13q33-qter deletion through the inheritance of a derivative chromosome 13 (der (13)). The patient presented with developmental delay, facial and non-facial dysmorphic features, hypertonia, genital abnormality and skeletal malformation but no thumb a-/hypoplasia or microphtalmia.

Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: a case study.

We present a patient with non-syndromic and sensorineural hearing impairment with a novel mitochondrial DNA transition. A 7-year-old boy showed progressive deafness. He gradually lost his hearing ability and his hearing function did not improve with hearing aids.