نتایج جستجو برای: jervell and lange nielsen syndrome
تعداد نتایج: 16945764 فیلتر نتایج به سال:
It is becoming clear that mutations in the KVLQT1, human "ether-a-go-go" related gene, cardiac voltage-dependent sodium channel gene, minK and MiRP1 genes, respectively, are responsible for the LQT1, LQT2, LQT3, LQT5 and LQT6 variants of the Romano-Ward syndrome, characterized by autosomal dominant transmission and no deafness. The much rarer Jervell-Lange-Nielsen syndrome (with marked QT prolo...
We propose a resolution for the fermion doubling problem in discrete field theories based on the fuzzy sphere and its Cartesian products. The nonperturbative formulation of chiral gauge theories is a long standing programme in particle physics. It seems clear that one should regularise these theories with all symmetries intact. There are two major problems associated with conventional lattice a...
Long QT syndrome, which is defined by corrected QT interval longer than 0.45 seconds in men and o. 47 sec in women , could be divided into idiopathic (congenital ) and acquired forms. The idiopathic form is a familial disorder that can be associated with sensorineural deafness (Jervell and Lange- Neelson syndrome), which is transmitted with an autosomal recessive pattern. Although this syndrome...
Introduction: Cornelia de lange syndrome(CDLS) is a rare syndrome which is characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various ophthalmologic problems. The diagnosis of this syndrome is clinical. Case Report: The patient of the present case report was an infant with cornelia ...
The paper is based on the authors’ work for the HiTrans Interreg III-project (Nielsen, Lange et al. 2005), recent work on a good practice guide for public transport system design in rural and small town regions for the Norwegian Ministry of Transport and Communications (Nielsen and Lange 2008), earlier literature studies and consultancy work for various public transport bodies in Norway. The id...
Background—Long-QT syndrome (LQTS) is characterized by prolonged myocardial action potential duration. The longest action potential duration is reported in the endomyocardium and midmyocardium. Prolonged action potential duration in LQTS may cause prolonged cardiac contraction, which can be assessed by strain echocardiography. We hypothesized that myocardial contraction is most prolonged in sub...
Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...
Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two...
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