نتایج جستجو برای: romano ward syndrome

تعداد نتایج: 645734  

Journal: :Circulation 1993
W G Guntheroth

T o those of us who were practicing cardiology in the early 1960s, the reports from Jervell and Lange-Nielsen,1 Romano and colleagues,2 and Ward3 were welcome enlightenment for a few of our patients with alarming episodes of syncope and a family history of sudden death. Although Ward reported that one of his original patients responded to ,8-blockade and that form of therapy remains central to ...

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

Journal: :American journal of physical anthropology 2003
Barry Bogin

Gabriel W. Lasker died on August 27, 2002 from complications of kidney disease. He was 90 years old. Lasker was one of the leading figures in anthropology after World War II. He helped create the population approach in biological anthropology, which rejected concepts of fixed racial typology in favor of variation and plasticity in adaptation. He developed the methodology of using family surname...

2016
Jie Wu Wei-Guang Ding Minoru Horie

Long QT syndrome type 1 (LQT1) is a subtype of a congenital cardiac syndrome caused by mutation in the KCNQ1 gene, which encodes the α-subunit of the slow component of delayed rectifier K+ current (IKs) channel. Arrhythmias in LQT1 are characterized by prolongation of the QT interval on ECG, as well as the occurrence of life-threatening cardiac events, frequently triggered by adrenergic stimuli...

2012
Silvia Romano Carlo Caltagirone Ugo Nocentini

MS has been described in various populations and geographical regions with different frequencies. Generally, the most commonly used frequencies in epidemiological studies of diseases are prevalence and incidence. As described in the next subsection (etiopathogenesis), regional differences in MS prevalence and incidence have contributed to formulating a hypothesis on its pathogenesis. Prevalence...

2011
Gianfranco Damiani Luigi Pinnarelli Lorenzo Sommella Valentina Vena Patrizia Magrini Walter Ricciardi

BACKGROUND The short stay unit (SSU) is a ward providing targeted care for patients requiring brief hospitalization and dischargeable as soon as clinical conditions are resolved. Therefore, SSU is an alternative to the ordinary ward (OW) for the treatment of selected patients. The SSU model has been tested in only a few hospitals, and the literature lacks systematic evaluation of the impact of ...

Journal: :Journal of aging and physical activity 1995
H Kröger A Mahonen S Ryhänen A M Turunen E Alhava P Mäenpää

The current study investigated the association between vitamin-D-receptor (VDR) genotypes with bone-mineral density (BMD) and its interaction with physical activity level (PAL). Individuals in a sample of 192 volunteers (67.84 +/- 5.23 years) underwent BMD evaluation and were genotyped for VDR ApaI, BsmI, FokI, and TaqI polymorphisms. Haplotypes were reconstructed through expectation-maximizati...

2010
Isabelle M Hunt Kirsten Windfuhr Nicola Swinson Jenny Shaw Louis Appleby Nav Kapur

BACKGROUND Suicide prevention by mental health services requires an awareness of the antecedents of suicide amongst high risk groups such as psychiatric in-patients. The goal of this study was to describe the social and clinical characteristics of people who had absconded from an in-patient psychiatric ward prior to suicide, including aspects of the clinical care they received. METHODS We car...

Journal: :Circulation 2005
Paul A Brink Lia Crotti Valerie Corfield Althea Goosen Glenda Durrheim Paula Hedley Marshall Heradien Gerhard Geldenhuys Emilio Vanoli Sara Bacchini Carla Spazzolini Andrew L Lundquist Dan M Roden Alfred L George Peter J Schwartz

BACKGROUND In the congenital long-QT syndrome (LQTS), there can be a marked phenotypic heterogeneity. Founder effects, by which many individuals share a mutation identical by descent, represent a powerful tool to further understand the underlying mechanisms and to predict the natural history of mutation-associated effects. We are investigating one such founder effect, originating in South Afric...

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