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showing 10 items of 4869 documents
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
2020
Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More recently, KMT2A variants have been described in probands with a specific clinical diagnosis comprised in the so-called chromatinopathies. Such conditions, including WDSTS, are a group of overlapping disorders caused by mutations in genes coding for the epigenetic machinery. Among them, Rubinstein–Taybi syndrome (RSTS) is mainly caused by heterozygous pathogenic variants in CREBBP or EP300. In this work, we used next generati…
Statistical analysis of life history calendar data
2016
The life history calendar is a data-collection tool for obtaining reliable retrospective data about life events. To illustrate the analysis of such data, we compare the model-based probabilistic event history analysis and the model-free data mining method, sequence analysis. In event history analysis, we estimate instead of transition hazards the cumulative prediction probabilities of life events in the entire trajectory. In sequence analysis, we compare several dissimilarity metrics and contrast data-driven and user-defined substitution costs. As an example, we study young adults' transition to adulthood as a sequence of events in three life domains. The events define the multistate event…
Psychological interventions to foster resilience in healthcare students
2020
Background Resilience can be defined as maintaining or regaining mental health during or after significant adversities such as a potentially traumatising event, challenging life circumstances, a critical life transition or physical illness. Healthcare students, such as medical, nursing, psychology and social work students, are exposed to various study- and work-related stressors, the latter particularly during later phases of health professional education. They are at increased risk of developing symptoms of burnout or mental disorders. This population may benefit from resilience-promoting training programmes. Objectives To assess the effects of interventions to foster resilience in healthc…
Induction of a recall deficit by rapid-rate transcranial magnetic stimulation
1994
We used rapid-rate, repetitive transcranial magnetic stimulation (rTMS) for the noninvasive study of verbal recall. Five right-handed normal subjects were studied. Recall followed immediately after presentation of a 12-word list. Focal rTMS was applied with a figure eight coil in trains of 500 ms duration to F7, F8, T5, T6, P3, P4, or O1, O2 at latencies of 0, 250, 500, or 1000 ms during word list presentation. Recall was consistently significantly diminished only after left mid-temporal and bilateral dorsofrontal rTMS at both 0 and 250 ms latencies. We conclude that rTMS may be useful as a non-invasive tool for the study of verbal memory processes.
Relationship between isokinetic performance and ballistic movement
1983
The present experiments were carried out to assess the relationship between the mechanical behaviour of the leg extensor muscles in 12 male athletes during activities of a ballistic type and torque production, during: (1) torque production during isokinetic contraction: (2) ballistic type activities (vertical jumps from statis position = SJ, with counter-movement equal CMJ and after a fall from different heights equal DJ) and (3) a new anaerobic test (Bosco 1983a). This consisted of performing continuous jump work for a certain period of time (e.g., 60 s). Both ballistic activities and anaerobic power tests demonstrated the highest relationship with peak torques when this was developed resp…
Comparison of training and anthropometric characteristics between recreational male half-marathoners and marathoners
2013
Zillmann, Teresa | Knechtle, Beat | Ruest, Christoph Alexander | Knechtle, Patrizia | Rosemann, Thomas | Lepers, Romuald; International audience; ''Participation in endurance running such as half-marathon (21-km) and marathon (42-km) has increased over the last decades. We compared 147 recreational male half-marathoners and 126 recreational male marathoners to investigate similarities or differences in their anthropometric and training characteristics. The half-marathoners were heavier (P < 0.05), had longer legs (P < 0.001), thicker upper arms (P < 0.05), a thicker thigh (P < 0.01), a higher sum of skinfold thicknesses (P < 0.01), a higher body fat percentage (P < 0.05) and a higher skelet…
Pooled analysis of who surgical safety checklist use and mortality after emergency laparotomy
2019
Background The World Health Organization (WHO) Surgical Safety Checklist has fostered safe practice for 10 years, yet its place in emergency surgery has not been assessed on a global scale. The aim of this study was to evaluate reported checklist use in emergency settings and examine the relationship with perioperative mortality in patients who had emergency laparotomy. Methods In two multinational cohort studies, adults undergoing emergency laparotomy were compared with those having elective gastrointestinal surgery. Relationships between reported checklist use and mortality were determined using multivariable logistic regression and bootstrapped simulation. Results Of 12 296 patients incl…
Transient hepatic nodular lesions associated with patent ductus venosus in preterm infants.
2010
We report on two cases of low-birth-weight preterm infants with patent ductus venosus associated with hepatic hypoechoic lesions of the fourth segment in an otherwise normal liver. Although tumorlike hepatic lesions have been previously reported in association with portosystemic shunts in children and adults, they were never described in preterm infants during physiological patency of ductus venosus. In our patients, hepatic lesions disappeared shortly after the spontaneous ductus closure. Physiopathologic interactions are discussed regarding altered portal blood supply caused by ductus venosus shunt.
Effects of Combined Strength and Sprint Training on Lean Mass, Strength, Power and Sprint Performance in Masters Road Cyclists
2017
Del Vecchio, L, Stanton, R, Reaburn, P, Macgregor, C, Meerkin, J, Villegas, J, and Korhonen, MT. Effects of combined strength and sprint training on lean mass, strength, power, and sprint performance in masters road cyclists. J Strength Cond Res 33(1): 66-79, 2019-Strength and sprint-training exercises are integral part of training in many younger endurance cyclists to improve cycling efficiency and sprinting ability. This study was undertaken to examine whether muscle and performance characteristics could be improved in endurance-trained masters cyclist by adding strength and sprint-training stimuli into their training regimen. Twenty-five masters road cyclists were assigned to a combined …
Ischemic-type biliary lesions after liver transplantation: a retrospective analysis of risk factors and outcome.
2013
BACKGROUND Ischemic-type biliary lesions (ITBL) are the most troublesome complications after liver transplantation. Their cause remains unknown and, although some risk factors have been identified, results from different research groups are often conflicting. The goal of this study was to investigate potential risk factors for ITBL. METHODS 565 transplantations performed between September 1997 and August 2010 were identified and divided into two cohorts: 77 in which the patient developed ITBL and 488 in which no ITBL occurred. The following factors were analyzed: donor age, patient Child-Pugh score, cold ischemia time, total ischemia time, type of perfusion solution, shipped versus non-ship…