background: the frequency of pyruvate kinase (pk) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. the purpose of this study is to obtain data on the frequency and spectrum of gene mutation of pk in newborns, from shiraz and surrounding areas. materials and methods...

chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...

patients and methods previously recorded data of 231 patients who underwent surgical closure of vsd between january 2009 and january 2012 at the rajaie cardiovascular medical and research center were retrospectively reviewed. vsd surgical repair was performed using continues suturing technique in group a patients (n = 163, 70.6%) and interrupted suturing technique in group b patients (n = 68, 2...

Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...

Background The immotile short tail sperm (ISTS) defect is one of the disorders that cause male infertility. Men with this condition have immotile short-tail sperm with structural defects in the fibrous sheath(FS). A Kinase Anchoring Protein 4 (AKAP4) is one of the most abundant proteins in the fibrous sheathof sperm flagella and provides scaffold for the correct assembly of FS.Since exon 6 of A...

background: congenital heart disease (chd) is the most common congenital anomaly in newborns. this study was performed to determine the live birth incidence of chd by ethnicity and sex in gorgan, northern iran. methods: in this longitudinal, hospital-based study, 18162 live births in dezyani hospital in gorgan, north of iran, were screened for chd, from 2007 through 2009. clinical examination, ...

background: closure of patent ductus arteriosus (pda), ventricular septal defect (vsd) and atrial septal defect (asd) can be done surgically or by device. this study was designed to compare the total cost of surgical or device closures of pda, asd or vsd for iranian patients. methods: this is a cross-sectional study, conducted from january 1, 2005 until january 1, 2006 in two large heart center...

this is a case presentation of a 26-year-old woman with a moderate-sized atrial septal secundum defect (17mm) who underwent catheterism, during which an amplatzer septal occluder number 26 was inserted successfully. on the second postoperative day, she deteriorated and a clinical examination showed a typical tamponade. after a percutaneous aspiration of the pericardial cavity and transient impr...

Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed homozygous candidate gene defect in POU1F1. The study thus presents novel animal model for human hypopituitarism.