Amyloid results from the deposition, principally in connective tissue, of polymers that are for the most part incompletely digested precursor proteins. In man the resulting deposits are very resistant to resorption or digestion: their relentless accumulation often causes death by interfering with the function of vital organs such as the kidneys, heart, and gut. There are three definitive method...

background: leishmaniasis is important vector-borne parasitic disease worldwide, caused by the genus leishmania . the objective of the current study was to identify genetic polymorphism in l. major , one of the species causing cutaneous leishmaniasis (cl), isolated from southeastern iran, using permissively primed intergenic polymorphic-polymerase chain reaction (ppip-pcr) method. methods: over...

Hemoglobin (Hb) H disease is a moderate form of α- thalassemia resulting from various genetic defects. HbH disease is not necessarily a benign disorder as has been generally thought. We present hereby a 25- year-old Iranian pregnant woman whom referred to our hospital for blood transfusion. She exhibited the clinical and hematological manifestation of HbH disease. Her father carries a common α-...

huntingtons disease (hd) is an autosomal dominant inherited disease characterized by involuntary movements, behavioral and personality changes, dementia and cognitive decline. although the mean age of onset is about 40 years, it varies from 5 to 79 years. therefore, at-risk individuals are never sure to have escaped the disease. hd is a member of the growing family of neurodegenerative disorder...

more often patients refer for genetic counseling, without definite diagnosis. mostly people and some doctor! have the impression the all muscular dystrophy affected by boys but is carried by girles. more often review of medical history of theses patients resolved this finding different clinical (neurologists), physiotherapist (ncv,emg) and pathologists diagnosis and also negative result molecul...

how to cite this article: javadzadeh m. prenatal diagnosis and genetic counseling for niemann-pick c disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 22.   pls see pdf.

today multinational studies using genome-wide association scan (gwas) for >1000,000 polymorphisms on >100,000 cases with major psychiatric diseases versus controls, combined with next-generation sequencing have found ~100 genetic polymorphisms associated with schizophrenia (scz), bipolar disorder (bd), autism, attention deficit and hyperactivity disorder (adhd), etc. however, the effect size of...

Introduction: Idiopathic subglottic tracheal stenosis is a rare inflammatory disease of the trachea; most commonly affects females within the age range of 20-50 years. No etiologic factor has yet been identified for this rare tracheal disease and therefore it should be diagnosed after the exclusion of other inflammatory, traumatic, and autoimmune diseases of the trachea. The familial or g...

Crohn’s disease is an inflammatory bowel disease (IBD), characterized by chronic intestinal inflammation that causes the loss of immune tolerance leading to bizarre inflammatory signals and disruption of mucosal barriers. Environmental triggers and interaction of genetic determinants also play an indispensible role. In this case report, we present a pre-pubertal girl with intermittent and refra...