241 research outputs found
Match-derived relative pitch area changes the physical and team tactical performance of elite soccer players in small-sided soccer games
Small-sided games (SSGs) are used in training sessions to prepare for full-sized matches. For the same number of players, smaller pitch sizes result in decreased physical performance and shorter interpersonal distances. A relative pitch area derived from the full-sized match results in larger pitch sizes and this may increase the fit between SSGs and full-sized matches. This study aimed to investigate SSGs with a traditional small pitch and a match-derived relative pitch area in youth elite soccer players. Four age categories (under-13, under-15, under-17 and under-19) played 4 vs. 4 plus goalkeepers on a small (40x30m, 120m(2) relative pitch area) and large pitch (68x47m, 320m(2) relative pitch area). The number of games per age category ranged 15-30. Positional data (LPM-system) were collected to determine physical (total distance covered, high intensity distance and number of sprints) and team tactical (inter-team distance, LPW-ratio, surface area, stretch indices, goalkeeper-defender distance) performance measures and tactical variability. On a large pitch, physical performance significantly increased, inter-team and intra-team distances were significantly larger and tactical variability of intra-team distance measures significantly increased. The match-derived relative pitch area is an important training manipulation and leads to changes in physical and tactical performance 4 vs. 4 plus goalkeepers.</p
Managing Load to Optimize Well-Being and Recovery During Short-Term Match Congestion in Elite Basketball
In elite basketball, players are exposed to intensified competition periods when participating in both national and international competitions. How coaches manage training between matches and in reference to match scheduling for a full season is not yet known. PURPOSE: First, to compare load during short-term match congestion (ie, ≥2-match weeks) with regular competition (ie, 1-match weeks) in elite male professional basketball players. Second, to determine changes in well-being, recovery, neuromuscular performance, and injuries and illnesses between short-term match congestion and regular competition. METHODS: Sixteen basketball players (age 24.8 [2.0] y, height 195.8 [7.5] cm, weight 94.8 [14.0] kg, body fat 11.9% [5.0%], VO2max 51.9 [5.3] mL·kg-1·min-1) were monitored during a full season. Session rating of perceived exertion (s-RPE) was obtained, and load was calculated (s-RPE × duration) for each training session or match. Perceived well-being (fatigue, sleep quality, general muscle soreness, stress levels, and mood) and total quality of recovery were assessed each training day. Countermovement jump height was measured, and a list of injuries and illnesses was collected weekly using the adapted Oslo Sports Trauma Research Center Questionnaire on Health Problems. RESULTS: Total load (training sessions and matches; P < .001) and training load (P < .001) were significantly lower for ≥2-match weeks. Significantly higher well-being (P = .01) and less fatigue (P = .001) were found during ≥2-match weeks compared with 1-match weeks. CONCLUSION: Total load and training load were lower during short-term match congestion compared with regular competition. Furthermore, better well-being and less fatigue were demonstrated within short-term match congestion. This might indicate that coaches tend to overcompensate training load in intensified competition
Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa
Deciduous Teeth as an Alternative DNA Source for Postmortem Genetic Testing
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220426.pdf (Publisher’s version ) (Closed access
Hyperkeratotic hand eczema:Eczema or not?
BACKGROUND: Hyperkeratotic hand eczema (HHE) is a typical clinical hand eczema subtype with a largely unknown pathophysiology. OBJECTIVE: To investigate histopathology, expression of keratins (K), epidermal barrier proteins, and adhesion molecules in HHE. METHODS: Palmar skin biopsies (lesional and perilesional) were obtained from seven HHE patients and two healthy controls. Moreover, 135 candidate genes associated with palmoplantar keratoderma were screened for mutations. RESULTS: Immunofluorescence staining showed a significant reduction of K9 and K14 in lesional skin. Upregulation was found for K5, K6, K16, and K17 in lesional skin compared with perilesional and healthy palmar skin. Further, upregulation of involucrin and alternating loricrin staining, both in an extracellular staining pattern, was found. Filaggrin expression was similar in lesional, perilesional, and control skin. No monogenetic mutations were found. CONCLUSION: Currently, the phenotype of HHE is included in the hand eczema classification system; however, it can be argued whether this is justified. The evident expression of filaggrin and involucrin in lesional skin does not support a pathogenesis of atopic eczema. The upregulation of K6, K16, and K17 and reduction of K9 and K14 might contribute to the underlying pathogenesis. Unfortunately, comparison with hand eczema studies is not possible yet, because similar protein expression studies are lacking
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
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214010.pdf (publisher's version ) (Open Access
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex
PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common to all isoforms. Due to the ubiquitous presence of plectin in mammalian tissues, EBS from recessive plectin mutations is always associated with extracutaneous involvement including muscular dystrophy, pyloric atresia and cardiomyopathy. We studied a consanguineous family with sisters having isolated blistering suggesting EBS. Skin disease started with foot blisters at walking age and became generalized at puberty while sparing mucous membranes. DNA sequencing revealed a homozygous nonsense mutation (c.46C>T; p.Arg16X) in the first exon of the plectin variant encoding plectin isoform 1a (P1a). Immunofluorescence antigen mapping, transmission electron microscopy, western blot analysis and qRT-PCR were performed on patient skin and cultured keratinocytes, control myocardium and striated muscle samples. We found hypoplastic hemidesmosomes and intra-epidermal ‘pseudo-junctional' cleavage fitting EBS. Screening for cardiomyopathy and muscle dystrophy showed no abnormalities. We report the first cases of autosomal-recessive EBS from P1a deficiency affecting skin, while mucous membranes, heart and muscle are spared. The dominant expression of the P1a isoform in epidermal basal cell layer and cultured keratinocytes suggests that mutations in the first exon of isoform 1a cause skin-only EBS without extracutaneous involvement. Our study characterizes yet another of the eight isoforms of plectin and adds a tissue-specific phenotype to the spectrum of ‘plectinopathies' produced by mutations of unique first exons of this gen
Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G)
Objective: The clinical description of a novel TTR genemutation characterized by a late onset amyloid cardiomyopathy.Methods and Results: A 78-year-old man of Dutch origin with recent surgeryforbilateral carpal tunnel syndrome(CTS) was admitted to our hospital because of heart failure with preserved ejection fraction (55%). Cardiac ultrasound showed thickened biventricular walls, and cardiac magnetic resonance imaging also showed late gadolinium enhancement. Early signs of a polyneuropathy were found by neurophysiological testing. A few months later, his 72year- old sister was admitted to an affiliated hospital because of heart failure caused by a restrictive cardiomyopathy. In both patients, a subcutaneous abdominal fat aspirate was stained with Congo red and DNA was analyzed by direct sequencing of exons 1 to 4 of the transthyretin (TTR) gene. Both fat aspirates revealed transthyretin-derived (ATTR) amyloid. Tc-99m-diphosphonate scintigraphy further confirmed cardiac ATTR amyloidosis in the male patient. DNA analysis of both patients showed a novel TTR mutation c.194C>G that encodes for the gene product TTR (p.A65G) ending up as themature protein TTR A45G. The 56-year-old daughter of themale patient had the same TTR mutation. A full diagnostic workup did not reveal any signs of amyloidosis yet.Conclusions: A novel amyloidogenic TTRmutation was found in a Dutch family. The clinical presentation of ATTR A45G amyloidosis in the affected family members was heart failure due to a late-onset cardiomyopathy. The systemic nature of this disease was reflected by bilateral CTS and by early signs of a polyneuropathy in the index patient.</p
Postmatch recovery of physical performance and biochemical markers in team ball sports:a systematic review
Background: Insufficient postmatch recovery in elite players may cause an increased risk of injuries, illnesses and non-functional over-reaching. Objective: To evaluate postmatch recovery time courses of physical performance and biochemical markers in team ball sport players. Study design: Systematic review. Data sources: PubMed and Web of Science. Eligibility criteria for selecting studies: This systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The Critical Review Form for Quantitative Studies was used to evaluate quality. Studies were included if they met the following criteria: (1) original research evaluated players' physical recovery postmatch; (2) team/intermittent sports; and (3) at least two postmeasurements were compared with baseline values. Results: Twenty-eight studies were eligible. Mean methodological quality was 11.2±1.11. Most used performance tests and biochemical markers were the countermovement jump test, sprint tests and creatine kinase (CK), cortisol (C) and testosterone (T), respectively. Summary/conclusions: The current evidence demonstrates that underlying mechanisms of muscle recovery are still in progress while performance recovery is already reached. CK recovery time courses are up to ≥72 hours. Soccer and rugby players need more time to recover for sprint performance, CK and C in comparison to other team ball sports. There are more high-quality studies needed regarding recovery in various team sports and recovery strategies on an individual level should be evaluated. Clinical relevance: Ongoing insufficient recovery can be prevented by the use of the presented recovery time courses as specific practical recovery guidelines
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