Primary hyperoxaluria is the most severe stone disease responsible for multiple recurrence and impairment of kidney function. It a rare inherited with an autosomal transmission. Due to high proportion consanguineous marriages by comparison other areas in world, this pathology more frequent North Africa. Stones are made calcium oxalate monohydrate, which not unique cannot help physicians diagnos...

Aim: Early marriages have considerable adverse effects on adolescents and children health. To determine the factors associated with early marriages, this study was conducted in a forensic sample of Afyonkarahisar province. Method: Between 2005–2006, Adolesencent women who were admitted to the court subsequently referred to the psychiatric outpatient clinics of the univercity. The authors who ar...

pantothenate kinase- associated neurodegeneration (pkan) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. it has been shown that the disorder is caused by mutations in pank2 gene which codes for a mitochondrial enzyme participating in coenzyme a biosynthe...

introduction: mental retardation, is one of the most common causes for referral to genetic counseling centers, and is one of the greatest challenges in health care services in the world. down syndrome is the most common chromosomal abnormalities in humans. methods: this study performed in medical genetic counseling center of welfare organization in south of iran with high consanguineous marriag...

BACKGROUND Color blindness is a common X-linked genetic disorder. However, most of color blinds remain undetected due to absence of proper screening. Our study was to determine the prevalence of red-green color vision defects among Manipuri Muslim males and females. The study could help in decreasing birth of children with this disorder as Muslims commonly perform consanguineous marriage among ...

BACKGROUND Androgen insensitivity syndrome (AIS) or testicular feminization is a partial or complete inability of cell response to androgen. The cause is enzymatic defect in synthesis of testosterone, resulting sexually immature phenotypically female, with primary amenorrhea. There are three categories of AIS, complete, partial and mild, depending on the degree of external genital masculinizati...

Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19orf12 gene was confirmed on the proband, a ...

Progressive familial intrahepatic cholestasis (PFIC) occurs in many communities and races. A form of PFIC in five children from two consanguineous marriages in an Irish kindred is described. In addition, a review of clinical information from the records of three deceased members of the kindred strongly implies that they also suffered from PFIC. The children had a history of neonatal diarrhoea, ...

Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...

Objective: To explore the diagnostic features and inheritance patterns of spinal muscular atrophy (SMA) in children at three tertiary care public hospitals. Study Design: Retrospective study. Setting: HITEC Institute Medical Sciences Taxila Cantt. Period: January 2022 to March 2022. Material & Methods: A retrospective review medical records past ten years from 2011 December 2020 hospitals w...