نتایج جستجو برای: genetic defect
تعداد نتایج: 700108 فیلتر نتایج به سال:
Hypospadias is an uncommon congenital defect of urinary tract in farm animals. This defect has been recorded rarely in calves, lambs and foals in the world. The aetiology of hypospadias is not well understood, it seems to be multifactorial and may be related to genetic, endocrinological, and environmental factors. During April to October 2007, twenty-four goat kids with sings of hypospadias wer...
Background ISTS defect in which sperm tail is short and fibrous sheath and axoneme are disorganized, is one of the syndromes that cause male infertility. Although a few studies have been done in this regard, its exact etiology in human is unclear yet. Four candidate genes causing ISTS are SPEF2, RABL2B, and A-kinas anchoring proteins genes (AKAP3 and AKAP4). Proteins which coded by SPEF2 and RA...
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...
developing supernumerary limbs is a rare congenital condition that only a few cases have been documented. depending on the cause and developmental conditions, they may be single, multiple or complicated, and occur as a syndrome or associated with other anomalies. polymelia is defined as the presence of extra limb(s) which have been reported in human, mouse, chicken, calf and lamb. it seems that...
An oil tube defect detection method based on self-adaptive genetic fuzzy neural network is proposed, and it got the original information by multi-group vortex sensors and leakage magnetic sensors. We made multi-scale wavelet transform and frequency analysis to multi-channels original data and extracted multiattribute parameters from time domain and frequency domain, and then we selected the key...
Physicians are families' best counsellers, and genetic counseling is one of the most important and delicate aspects of medicine. Genetic disorders are the third most common problems of mankind after infectious diseases and malnutrition. 10% of neonatal and 25% of pediatric mortalities are some how related to congenital and genetic disturbances. Genetic disorders are categorized in four major gr...
Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. Affected individuals can develop cutaneous symptoms in sun-exposed areas of the skin and/or neuropsychiatric acute attacks. The identification of the genetic defect in VP familie...
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