The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases. Hence, a large number of algorithms have been developed for the detection of CNVs in SNP array signal intensity data. Using the European and African HapMap trio data, we undertook a comparative evaluation of six commonly used CNV detection s...

familial hypercholesterolemia (fh) is a hereditary dislipidemia. patients present with extremely high level of low-density lipoprotein cholesterol (ldl-c), which is due to mutation in the gene of ldl receptor. homozygous patients (hofh) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. in homozygous individuals cardiovasc...

desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (fap) as an extra-colonic manifestation of the disease. fap can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. although mild or attenuated fap may follow mutations in 5΄ extreme of the gene, it is more likely that ...

background: germ-line mutations of brca1 and brca2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. the aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. methods: we applied exome sequencing as a useful approach in hete...

a 6.5 yr old girl was admitted with a category of clinical signs and symptoms including recurrent gross hematuria, ab-dominal pain, and fever. after different examinations including genetic analysis, the disease was diagnosed as familial mediterranean fever (fmf). it is suggested to consider fmf as a rare cause of recurrent gross hematuria, which is re-sponsive to colchicine treatment.

background: brca1 and brca2 genes have been recognized to be responsible for 20-30% of hereditary breast can­cers and approximately 50% of familial breast and ovarian cancers. therefore, the demand for brca1 and brca2 muta­tion screening is rapidly increasing as their identification will affect medical management of people at increased risk. because of high costs involved in analysis of brca1 a...

background scapula fractures occur in approximately 1% of all fractures and constitute about 3% - 5% of all injuries of the shoulder joint. objectives this study aimed to evaluate the clinical outcomes of 20 surgically treated patients with displaced glenoid fractures after stabilization with distal radius plate. methods between 2012 and 2015, at 2 centers (hmch & shce) of bhubaneswar odisha, w...

BACKGROUND The household transmission of hepatitis B virus (HBV) is a major health problem. High incidence of HBV infection is observed within the household contacts of HBV carriers. We aimed to evaluate serological markers of hepatitis B infection among family members of HBV carriers in Arak, central Iran. METHODS Data were collected from the 100 chronic HBV carriers (subjects with positive ...

The remarkably strong propensity in female flying squirrels (Glaucomys volans) for retrieving their young has been noted by several naturalists . In one instance (Stack 1925) a female climbed up the pant-leg of an observer who had removed the young from a nest; she took four babies from the observer's hand and carried each of them to another tree cavity. During my own field work I have often ob...

INTRODUCTION Congenital central hypoventilation syndrome is an autosomal dominant disorder that classically presents as sudden death in infancy secondary to central hypoventilation. Most cases are caused by polyalanine repeat mutations in the paired-like homeobox 2B gene, PHOX2B. More severe disease is typically associated with nonpolyalanine repeat mutations. We report the case of a family wit...