Search results for " onset"

Is high-sensitivity troponin, alone or in combination with copeptin, sensitive enough for ruling out NSTEMI in very early presenters at admission? A …

2019

Objectives: Copeptin and high-sensitivity cardiac troponin (HS-cTn) assays improve the early detection of non-ST-segment elevation myocardial infarction (NSTEMI). Their sensitivities may, however, be reduced in very early presenters.Setting: We performed a post hoc analysis of three prospective studies that included patients who presented to the emergency department for chest pain onset (CPO) of less than 6 hours.Participants: 449 patients were included, in whom 12% had NSTEMI. CPO occurred 4 hours in 146 patients. The prevalence of NSTEMI was similar in all groups (9%, 13% and 12%, respectively, p=0.281).Measures: Diagnostic performances of HS-cTn and copeptin at presentation were examined…

Supplementing sleep actigraphy with button pressing while awake

2020

Objective/backgroundWrist-worn sleep actigraphs are limited for evaluating sleep, especially in sleepers who lie awake in bed without moving for extended periods. Sleep logs depend on the accuracy of perceiving and remembering times of being awake. Here we evaluated pressing an event-marker button while lying awake under two conditions: self-initiated pressing every 5 to 10 minutes or pressing when signaled every 5 minutes by a vibration pulse from a wristband. We evaluated the two conditions for acceptability and their concordance with actigraphically scored sleep.Participants and methodsTwenty-nine adults wore actigraphs on six nights. On nights 1 and 4, they pressed the marker to a vibra…

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

2001

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.

Behavioral impact of experience based on environmental enrichment: Influence of age and duration of exposure in male NMRI mice

2020

Prior studies have suggested that short periods of exposure to environmental enrichment (EE) in rodents induce physiological and behavioral effects. In the present study, our aim was to evaluate if the impact of experiences based on EE could be modulated by the age of onset and the developmental period of exposure. NMRI male mice (n = 64) were exposed to EE or standard environment (SE) and behavioral changes (anxiety, exploration, memory and social interaction) were evaluated. Groups compared were: (a) SE: exposure to SE on post-natal day (PND) 28 and lasting 6 months; (b) EE-6: exposure to EE on PND 28 and lasting 6 months; (c) EE-4: exposure to EE on PND 91 and lasting 4 months; (d) EE-2:…

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

2006

Background Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and premature death. Aim Here, we present the clinical manifestations of Fabry disease in children enrolled in FOS--the Fabry Outcome Survey--a European database of the natural history of Fabry disease and the effects of enzyme replacement therapy with agalsidase alfa (Replagal). Methods Currently, there are 545 patients in FOS, from 11 European countries. We analysed the baseline demographic and clinical characteristics of 82 of these patients (40 boys, 4…

ATTENTUS, a German online survey of patients with chronic urticaria highlighting the burden of disease, unmet needs and real-life clinical practice.

2015

MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.

2007

Aim: To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD). Patients: Forty-four patients with coGHD (34 M; 9.7 ± 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n = 13); multiple pituitary hormone deficiencies (MPHD) (n=17). Results: Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94.1%), and no patient with PIGHD. Mean pituitary height (PHT SDS) was significantly lower in MPHD than in SIGHD and PIGHD. Pituitary height SDS and pituitary volume (PV) SDS correlated with IGF-I SDS and stimulated GH peaks in the SIGHD and MPHD g…

Predictors of microvascular complications in type 1 diabetic patients at onset: The role of metabolic memory

2011

Background Several epidemiological studies showed a close association between metabolic control and microvascular complications in type 1 Diabetes Mellitus (T1DM). The aim of our longitudinal observational study was to evaluate the predictive role of the main clinical and biochemical parameters in determining microvascular complications. Methods 376 T1DM patients, hospitalized in our division from 1991 to 2005 (mean follow-up = 10.93 ± 4.26 years) were studied. Stepwise Cox regression analysis was used to identify the influence of residual ß-cell function, ß-cell autoimmunity, HbA1c levels and other clinical and laboratory parameters in the development of microalbuminuria and retinopathy. R…

Comparing Subjective With Objective Sleep Parameters Via Multisensory Actigraphy in German Physical Education Students.

2015

This study compared subjective with objective sleep parameters among 72 physical education students. Furthermore, the study determined whether 24-hr recording differs from nighttime recording only. Participants wore the SenseWear Armband™ for three consecutive nights and kept a sleep log. Agreement rates ranged from moderate to low for sleep onset latency (ICC = 0.39 to 0.70) and wake after sleep onset (ICC = 0.22 to 0.59), while time in bed (ICC = 0.93 to 0.95) and total sleep time (ICC = 0.90 to 0.92) revealed strong agreement during this period. Comparing deviations between 24-hr wearing time (n = 24) and night-only application (n = 20) revealed no statistical difference (p > 0.05). As a…

Dopamine-related genes and spontaneous smoking cessation in ever-heavy smokers

2011

Several studies have provided evidence for associations of polymorphisms located in and near dopamine-related genes and nicotine dependence and other smoking-related phenotypes, including pharmacogenetic interactions. Aim: The purpose of the present work was to examine the association of SNPs in the DOPA decarboxylase (DDC), dopamine receptor D2 (DRD2) and dopamine transporter (SLC6A3) genes with smoking cessation in a large retrospective study featuring approximately 900 cessation events. Materials & methods: Data originated from the enrollment questionnaire of the epidemiological ESTHER study of community-dwelling adults aged 50–74 years, conducted in the German state of Saarland bet…