Search results for "31"
showing 10 items of 4401 documents
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
2012
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are no…
Severe plasma prekallikrein deficiency : clinical characteristics, novel KLKB1 mutations, and estimated prevalence
2020
BACKGROUND Severe plasma prekallikrein (PK) deficiency is an autosomal-recessive defect characterized by isolated activated partial thromboplastin time prolongation. To date, no comprehensive methodologically firm analysis has investigated the diagnostic, clinical, and genetic characteristics of PK deficiency, and its prevalence remains unknown. PATIENTS/METHODS We described new families with PK deficiency, retrieved clinical and laboratory information of cases systematically searched in the (gray) literature, and collected blood of these cases for complementary analyses. The Genome Aggregation Database (gnomAD) and the population-based Gutenberg Health Study served to study the prevalence …
El Instituto Médico Valenciano y la difusión de la vacuna
2004
The Medical Valencian Institute promoted a campaign of smallpox free vaccination (1851- 1894) by means of humanized vaccine sent from England. It spread the vaccination for the whole Spain and published careful statistics of the vaccinations practised in the Bulletin of the Medical Valencian Institute. The National Institute of Vaccination (1871) did not recognize his labor and one denied to him the category of Provincial Institute of Vaccination.
The Effects of Intensive Weight Reduction on Body Composition and Serum Hormones in Female Fitness Competitors.
2017
Worries about the potential negative consequences of popular fat loss regimens for aesthetic purposes in normal weight females have been surfacing in the media. However, longitudinal studies investigating these kinds of diets are lacking. The purpose of the present study was to investigate the effects of a 4-month fat-loss diet in normal weight females competing in fitness-sport. In total 50 participants finished the study with 27 females (27.2 +/- 4.1 years) dieting for a competition and 23 (27.7 +/- 3.7 years) acting as weight-stable controls. The energy deficit of the diet group was achieved by reducing carbohydrate intake and increasing aerobic exercise while maintaining a high level of…
Lemierre syndrome: Current evidence and rationale of the Bacteria-Associated Thrombosis, Thrombophlebitis and LEmierre syndrome (BATTLE) registry.
2020
Abstract Lemierre syndrome is a rare but potentially fatal condition characterized by septic thrombophlebitis of the head and neck district, preferentially affecting adolescents and young adults and manifesting as a complication of a local bacterial infection – typically, a pharyngotonsillitis or an abscess. It is historically associated with the Gram-negative anaerobic rod Fusobacterium necrophorum and with thrombophlebitis of the internal jugular vein. However, its definition has never been firmly established, and its spectrum within the continuum of bacteria-associated thrombophlebitis may be larger than what presumed so far. Recent evidence suggests that its prognosis remains serious ev…
Fear of falling and coexisting sensory difficulties as predictors of mobility decline in older women.
2012
BACKGROUND: Mobility decline, the coexistence of several sensory difficulties and fear of falling (FOF) are all common concerns in older people; however, knowledge about the combined effect of FOF and coexisting sensory difficulties on mobility is lacking. METHODS: Data on self-reported FOF, difficulties in hearing, vision, balance, and walking 2 km were gathered with a structured questionnaire among 434 women aged 63-76 years at baseline and after a 3-year follow-up. Logistic regression models were used for analyses. RESULTS: Every third participant reported difficulties in walking 2 km at baseline. In cross-sectional analysis, the odds ratio for difficulties in walking 2 km was higher amo…
Motor unit discharge rate in dynamic movements of the aging soleus
2014
Aging is related to changes at the muscular level, leading to a decline in motor performance increasing the risk of falling and injury. It seems that the age-related changes in motor unit activation are muscle- and intensity dependent. The purpose of this study was to examine possible differences in soleus motor unit discharge rate (MUDR) in both isometric and dynamic contractions between young and elderly adults. 11 young (YOUNG) and 8 elderly (OLD) males participated in the study. The subjects performed isometric and dynamic plantar flexions while seated in an ankle dynamometer. The force levels studied were 10, 20, 40, 60, 80 and 100% of the isometric (ISO) MVC in ISO and 10, 20 and 40% …
OGT and OGA expression in postmenopausal skeletal muscle associates with hormone replacement therapy and muscle cross-sectional area
2013
Protein glycosylation via O-linked N-acetylglucosaminylation (O-GlcNAcylation) is an important post-translational regulatory mechanism mediated by O-GlcNAc transferase (OGT) and responsive to nutrients and stress. OGT attaches an O-GlcNAc moiety to proteins, while O-GlcNAcase (OGA) catalyzes O-GlcNAc removal. In skeletal muscle of experimental animals, prolonged increase in O-GlcNAcylation associates with age and muscle atrophy. Here we examined the effects of hormone replacement therapy (HRT) and power training (PT) on muscle OGT and OGA gene expression in postmenopausal women generally prone to age-related muscle weakness. In addition, the associations of OGT and OGA gene expressions with…
Stem cells and new intervention measures as emerging therapy in cardiac surgery
2020
Cardiovascular disease (CVD) presents a great burden for elderly patients, their caregivers, and health systems. Structural and functional alterations of vessels accumulate throughout life, culminating in increased risk of developing CVD. Several inflammatory pathway are involved in vascular ageing. The growing elderly population worldwide highlights the need to understand how aging promotes CVD in order to develop new strategies to confront this challenge. In this review we analyzed the role of stem cells and new intervention measures as emerging drugs for vascular aging.Choroby układu krążenia (CVD) są ogromnym obciążeniem dla osób w podeszłym wieku i ich opiekunów, a także systemów opiek…
Somatosensory mismatch response in young and elderly adults
2014
Aging is associated with cognitive decline and alterations in early perceptual processes. Studies in the auditory and visual sensory modalities have shown that the mismatch negativity [or the mismatch response (MMR)], an event-related potential (ERP) elicited by a deviant stimulus in a background of homogenous events, diminishes with aging and cognitive decline. However, the effects of aging on the somatosensory MMR (sMMR) are not known. In the current study, we recorded ERPs to electrical pulses to different fingers of the left hand in a passive oddball experiment in young (22–36 years) and elderly (66– 95 years) adults engaged in a visual task. The MMR was found to deviants as compared to…