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排序方式: 共有502条查询结果,搜索用时 15 毫秒
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John Timothy Wright Mary Fete Holm Schneider Madelaine Zinser Maranke I. Koster Angus J. Clarke Smail Hadj‐Rabia Gianluca Tadini Nina Pagnan Atila F. Visinoni Birgitta Bergendal Becky Abbott Timothy Fete Clark Stanford Clayton Butcher Rena N. D'Souza Virginia P. Sybert Maria I. Morasso 《American journal of medical genetics. Part A》2019,179(3):442-447
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins). 相似文献
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H E Veeger M Hadj Yahmed L H van der Woude P Charpentier 《Medicine and science in sports and exercise》1991,23(10):1201-1209
To extend the existing data base on the cardiovascular capacity of wheelchair-dependent athletes, a maximum wheelchair exercise test was conducted by 48 athletes (8 females and 40 males) on a motor driven treadmill. Athletes were selected on availability from the representatives of eight different disciplines. For 36 subjects maximal external power was calculated on the basis of a separate drag test. Maximal oxygen uptake (VO2max) for the male population was 2.23 l.min-1 (32.9 ml.kg-1.min-1). Subjects were divided into functional categories according to the International Stoke Mandeville Classification, with one nonambulatory, nonparaplegic group classified as "LA." The LA group displayed the highest values while the class IC tetraplegic showed the lowest performance level. Classified over sports disciplines, male track and field representatives showed the highest VO2max (2.86 l.min-1, 44.9 ml.kg-1.min-1) and target shooting athletes the lowest (1.32 l.min-1, 16.3 ml.kg-2.min-1). Maximal power output was on average 81.1 W for the male population and varied from 65.8 W for class II athletes to 92.2 W for class LA. Between sports values ranged from 96.8 W for basketball players to 48.2 W for the archery representative. These data are useful for setting standards for maximally attainable performance levels in relation to sport, functional classification, or sex and underline the capability of the wheelchair-dependent to improve cardiovascular fitness. 相似文献
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Hiba Hadj Ammar Sirine Lajili Rafik Ben Said Didier Le Cerf Abderrahman Bouraoui Hatem Majdoub 《Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences》2015,23(1)
Background
Seaweed polysaccharides are highly active natural substances having valuable applications. The present study was conducted to characterize the physico-chemical properties of sulphated polysaccharides from three Mediterranean brown seaweeds (Cystoseira sedoides, Cystoseira compressa and Cystoseira crinita) and to evaluate their anti-radical, anti-inflammatory and gastroprotective activities.Methods
The different rates of neutral sugars, uronic acids, L-fucose and sulphate content were determined by colorimetric techniques. The different macromolecular characteristics of isolated fucoidans were identified by size exclusion chromatography equipped with a triple detection: multiangle light scattering, viscometer and differential refractive index detectors, (SEC/MALS/VD/DRI). Anti-inflammatory activity was evaluated, using the carrageenan-induced rat paw edema test in comparison to the references drugs Acetylsalicylate of Lysine and Diclofenac. The gastroprotective activity was determined using HCl/EtOH induced gastric ulcers in rats and to examine the antioxidant effect of fucoidans in the three species, the free radical scavenging activity was determined using 1,1-diphenyl-2-picrylhydrazyl.Results
The pharmacological evaluation of the isolated fucoidans for their anti-inflammatory, and their gastroprotective effect established that these products from C. sedoides, C. compressa and C. crinita exhibited a significant anti-inflammatory activity at a dose of 50 mg/kg, i.p; the percentages of inhibition of the oedema were 51%, 57% and 58% respectively. And, at the same dose, these fucoidans from C. sedoides and C. compressa showed a significant decrease of the intensity of gastric mucosal damages compared to a control group by 68%, whereas, the fucoidan from C. crinita produced a less gastroprotective effect. Furthermore, the isolated fucoidans exhibited a radical scavenging activity.Conclusion
The comparative study of fucoidans isolated from three species of the genus Cystoseira showed that they have similar chemicals properties and relatives anti-radical, anti-inflammatory and gastroprotective activities which are found to be promising. 相似文献10.
IntroductionAltered glutathione systems (GSH) are suggested to participate in the pathophysiology of schizophrenia. The purpose of this study was to determine the plasmatic glutathione levels of patients with schizophrenia compared to healthy controls and to examine their relationships with clinical and therapeutic features.MethodsIt was a case-control study carried out on 100 patients with schizophrenia according to DSM-IV-TR criteria and 95 healthy controls. All patients were assessed by Clinical Global Impressions-severity (CGI-severity) and Global Assessment of Functioning (EGF). Most of the patients (55%) were under first-generation antipsychotics. Plasmatic glutathione levels (total glutathione GSHt, reduced glutathione GSHr, oxidized glutathione GSSG) were determined by spectrophotometry.ResultsThe levels of GSHt and GSHr were significantly decreased in schizophrenic patients in comparison with the healthy controls. These reductions were noted to be more pronounced in the untreated patients. No correlation was observed between the GSH levels and the clinical subtypes of schizophrenia and EGF scores. Depending on the therapeutic status, there were no significant differences in the GSH levels. In addition, there was no correlation between the GSH levels and the daily dosage of the antipsychotic treatment.ConclusionOur results suggest that the observed changes are related to the physiopathology of schizophrenia rather than to the presence of neuroleptic treatment. These results provide support for further studies of the possible role of antioxidants as neuroprotective therapeutic strategies. 相似文献