Search results for "SHO"
showing 10 items of 5071 documents
Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
2013
International audience; Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical h…
Ski jumping boots limit effective take-off in ski jumping
2002
In this study, we measured the vertical and horizontal take-off forces, plantar pressures and activation patterns of four muscles (vastus lateralis, gluteus maximus, tibialis anterior, gastrocnemius) in 10 ski jumpers in simulated laboratory conditions when wearing either training shoes or ski jumping boots. We found significant differences in vertical (P < 0.001), horizontal (P < 0.05) and resultant (P < 0.001) take-off velocities and vertical force impulse (P < 0.01). We found no significant differences in the jumpers' initial take-off positions; however, the jumping boots condition resulted in a smaller displacement in the final position of the following joint angles: ankle angle (P < 0.…
Vasopressor and inotrope treatment for septic shock: An umbrella review of reviews
2021
Abstract Purpose To review the characteristics, findings and quality of systematic reviews (SRs) on the effect of any vasopressor/inotrope on outcomes in adult patients with sepsis compared with either no treatment, another vasopressor or inotrope or fluids. Materials and methods We systematically searched Cochrane Central Register of Controlled Trials, PubMed and Embase (January 1993–March 2021). Descriptive statistics were used. Results Among the 28 SRs identified, mortality was the primary outcome in most (26/28) and mortality was usually (23/28) studied using randomised controlled trials (RCTs). Fifteen SRs focused exclusively on patients with sepsis or septic shock. Sepsis and septic s…
Tower of Hanoi and working memory in adult persons with intellectual disability
2001
Persons with intellectual disability (ID) have been found to perform more poorly than their mental age would suggest in the visuo-spatial problem solving task Tower of Hanoi (TOH). Inefficient performance has been assumed to be related to inability to use sophisticated problem solving strategies because of restricted working memory capacity. In the present study, the TOH performance of adult persons with ID was found to be equal to that of fluid-intelligence-matched general children. However, persons with ID violated the rules of the TOH more often, and needed more trials to solve the TOH problems than the children did. Visuo-spatial and executive working memory tasks were significantly con…
Enhanced rehabilitation guidance after arthroscopic capsulolabral repair of the shoulder : a randomized controlled trial
2020
Objective: To compare the effects of a 12-month home-based exercise program to usual care in patients after arthroscopic capsulolabral repair of the shoulder. Design: Randomized controlled trial. Setting: Outpatient physical and rehabilitation medicine clinic. Subjects: Forty-five patients (mean age: 35 years; standard deviation (SD): 10 years) who underwent arthroscopic capsulolabral repair due to labral lesion were randomized into an exercise group (EG) or a control group (CG). Intervention: The EG received a 12-month home-based additional exercise program with four physiotherapy follow-up visits, while the CG received standard postoperative exercise instructions. Main measures: Self-repo…
Neuromuscular function and mechanical efficiency of human leg extensor muscles during jumping exercises
1982
The influence of prestretch amplitude on the mechanical efficiency was examined with 5 subjects, who performed 5 different series of vertical jumps, each of which differed with respect to the mechanics of the knee joint action during the prestretch (eccentric) phase of the contact on the floor. Electromyographic activity was recorded from the major extensor muscles during the entire work period of 1 min per series. In addition, expired air was collected during the test and recovery for determination of energy expenditure. Mechanical work was calculated from the vertical displacement of the body during the jumps. The results indicated that high net efficiency of 38.7% was observed in conditi…
The German hearing in noise test
2020
The aims of this study were to develop a German Hearing In Noise Test (HINT) using the same methodology as with previous HINT tests; to develop sentence lists for measuring speech reception thresholds (SRTs); and to determine test-retest reliability and norms for measures obtained under headphones.The following steps were followed: develop and record sentences, synthesise masking noise, determine the performance-intensity (PI) function, equalise sentence difficulty in the masking noise. Form sentence lists of equal difficulty. Measure SRTs for normal hearing individuals to determine practice/learning effects, test-retest reliability, and norms.Three groups of adults (median age = 25 years) …
Hepatocellular carcinoma in cirrhotic patients at multidetector CT: hepatic venous phase versus delayed phase for the detection of tumour washout.
2011
OBJECTIVES: Our aim was to compare retrospectively hepatic venous and delayed phase images for the detection of tumour washout during multiphasic multidetector row CT (MDCT) of the liver in patients with hepatocellular carcinoma (HCC). METHODS: 30 cirrhotic patients underwent multiphasic MDCT in the 90 days before liver transplantation. MDCT was performed before contrast medium administration and during hepatic arterial hepatic venous and delayed phases, images were obtained at 12, 55 and 120 s after trigger threshold. Two radiologists qualitatively evaluated images for lesion attenuation. Tumour washout was evaluated subjectively and objectively. Tumour-to-liver contrast (TLC) was measured…
Clinical Predictors for Poor Quality of Life in Patients With Covert Hepatic Encephalopathy.
2018
Background Current EASL/AASLD guidelines recommend treatment of covert hepatic encephalopathy (HE) only in symptomatic patients, for example, in those with impaired quality of life or with affected driving abilities. Goals Because testing for impaired quality of life is time consuming, the aim of the present study was to identify simple clinical predictors for poor quality of life in patients with covert HE (CHE). Study In total, 139 cirrhotic in- and outpatients without a history of overt hepatic encephalopathy were enrolled. Diagnosis of HE grade 1 (HE1) was diagnosed clinically according to the West-Haven Criteria. Critical flicker frequency and the Psychometric Hepatic Encephalopathy Sc…
Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation
2015
Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…