نتایج جستجو برای: romano ward syndrome
تعداد نتایج: 645734 فیلتر نتایج به سال:
Many factors tend to reduce the efficiency of bed utilization in general hospitals. A numerically small, but clinically well-recognized, cause of wastage arises from the failure of waiting list patients to attend for admission when offered beds. The relative severity of the problem varies between clinical specialties, according to the proportions of total admissions accounted for by waiting lis...
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 report five South African families of northern European descent (pedigrees 161, 162, 163, 164, and 166) in whom Romano-Ward long QT syndrome (LQT) segregates. The disease mapped to a group of linked markers on chromosome 11p15.5, with maximum combined two point lod scores, all generated at theta = 0, of 15.43 for the D11S922, 10.51 for the D11S1318, and 14.29 for the tyrosine hydroxylase (TH...
BACKGROUND Long QT syndrome (LQTS) is characterized by QT prolongation, syncope and sudden death. This study aims to explore the causes, clinical manifestations and therapeutic outcomes of Jervell and Lange-Nielsen syndrome (JLNS), a rare form of LQTS with congenital sensorineural deafness, in Chinese individuals. MATERIALS AND METHODS Three JLNS kindreds from the Chinese National LQTS Regist...
Modifier screening is a powerful genetic tool. While not widely used in the vertebrate system, we applied these tools to transgenic mouse strains that recapitulate key aspects of Alzheimer's disease (AD), such as tau-expressing mice. These are characterized by a robust pathology including both motor and memory impairment. The phenotype can be modulated by ENU mutagenesis, which results in novel...
Objectives: We report the functional expression of four KCNQ1 mutations affecting arginine residues and resulting in Romano–Ward (RW) and the Jervell and Lange–Nielsen (JLN) congenital long QT syndromes. Results: The R539W and R190Q mutations were found in typical RW families with an autosomal dominant transmission. The R243H mutation was found in a compound heterozygous JLN patient who present...
We study the renormalization of the fermion mixing matrix in the Standard Model and derive the constraints that must be satisfied to respect gauge invariance to all orders. We demonstrate that the prescription based on the on-shell renormalization conditions is not consistent with the Ward-Takahashi Identities and leads to gauge dependent physical amplitudes. A simple scheme is proposed that sa...
to generate new alleles by meiotic recombination have failed (Puhalla, 1970). Genetic studies had revealed that Institut fü r Genetik und Mikrobiologie der Universitä t Mü nchen Maria-Ward-Str. 1a the b locus is the master control locus for pathogenicity and that the combination of two different b alleles in the 80638 Mü nchen, Germany same cell is absolutely required for the parasitic stage (s...
Though individuals prefer to join groups with high quality peers, there are also advantages from being high up in the pecking order within a group. We show that sorting of agents in this environment results in an overlapping interval structure in the type space. Segregation and mixing coexist in a stable equilibrium. When transfers are possible our stable equilibrium corresponds to a competitiv...
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