Search results for "REGION"
showing 10 items of 4910 documents
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
2009
Recently, three reports described deletions and epimutations affecting the imprinted region at chromosome 14q32.2 in individuals with a phenotype typical for maternal uniparental disomy of chromosome 14 [upd(14)mat]. In this study, we describe another patient with upd(14)mat-like phenotype including low birth weight, neonatal feeding problems, muscular hypotonia, motor and developmental delay, small hands and feet, and truncal obesity. Conventional cytogenetic analyses, fluorescence in situ hybridization subtelomere screening, multiplex ligation-dependent probe amplification analysis of common microdeletion and microduplication syndromes, and methylation analysis of SNRPN all gave normal re…
Abnormal Somatosensory Evoked Potentials Indicate Compressive Cervical Myelopathy in Mucopolysaccharidoses
2000
Compressive myelopathy at the cranio-cervical junction is a complication of mucopolysaccharidoses (MPS). To detect cervical myelopathy we recorded median and posterior tibial nerve SEPs in 15 patients aged 2.4 - 33.4 years (median 8.8 years) with MPS I-S (n = 3), MPS IVA (n = 8) and MPS VI (n = 4). In addition to the cortical waveforms we recorded the subcortical median nerve SEPs N13b and P13 generated near the cranio-cervical junction and the lemniscal P30 after posterior tibial nerve stimulation. MRI studies in 13 subjects revealed spinal cord compression at the cranio-cervical junction in 10 patients; 5 patients had an increased signal intensity on the T2-weighted initial MRI indicating…
Reference interval by the indirect approach of serum thyrotropin (TSH) in a Mediterranean adult population and the association with age and gender.
2019
Abstract Background The serum concentration of thyrotropin (TSH) represents a first-line test in diagnostic algorithms. The estimation of TSH reference intervals (RIs) is still a matter of debate due to the high prevalence of subclinical disease making difficult the definition of truly healthy subjects. The aim of this study was to estimate TSH RIs in healthy subjects and to evaluate the effect of age and gender on TSH concentration. Methods Forty-four thousand one hundred and fifty-six TSH data were collected between July 2012 and April 2018 at the Department of Laboratory Medicine, University-Hospital, Palermo. Common and sex-specific RIs were estimated by Arzideh’s indirect method after …
Long-term functional results of digital replantation: A survey of 28 patients
2019
We sought to evaluate the long-term quality of life and functional outcome of patients who underwent digital replantation after amputation. A retrospective single-center study was conducted of patients treated between January 2010 to May 2016. Twenty-eight patients who underwent successful replantation after single or multiple digital amputation were reviewed in person after at least 2years' follow-up (mean 4.6years). Total active range of motion, grip and pinch strength were assessed. Functional outcomes were evaluated using the SF-36 and DASH questionnaires. The patients' occupational status and daily activities were reported. Mean total active range of motion was 42% of the contralateral…
Role of FNAC in the diagnosis of intraosseous jaw lesions
2014
Background: FNAC of intraosseous jaw lesions has not been widely utilized for diagnosis due to rarity and diversity of these lesions, limited experience and lack of well established cytological features. Aim of the study was to determine the role of FNAC in the diagnosis of intraosseous jaw swellings. Material and Methods: 42 patients underwent FNAC over a period of 7 years (2007-2013), of which 37 (88.1%) aspirates were diagnostic. Histopathology correlation was available in 33 cases and diagnostic accuracy of FNAC was calculated. Results: Lesions were categorized into inflammatory 3, cysts/hamartomas 15 and neoplasms 19. Mandibular and maxillary involvement was seen in 21 and 16 patients …
Rationale and design of dal-VESSEL: a study to assess the safety and efficacy of dalcetrapib on endothelial function using brachial artery flow-media…
2011
Dalcetrapib increases high-density lipoprotein cholesterol (HDL-C) levels through effects on cholesteryl ester transfer protein (CETP). As part of the dalcetrapib dal-HEART clinical trial programme, the efficacy and safety of dalcetrapib is assessed in coronary heart disease (CHD) patients in the dal-VESSEL study (ClinicalTrials.gov identifier: NCT00655538), the design and methods of which are presented here. RESEARCH DESIGN AND STUDY METHOD: Men and women with CHD or CHD risk equivalent, with HDL-C levels50 mg/dL were recruited for a 36-week, double-blinded, placebo-controlled trial. After a pre-randomisation phase of up to 8 weeks, patients received dalcetrapib 600 mg/day or placebo in …
Relationships between maximal oxygen uptake and endothelial function in healthy male adults: a preliminary study
2010
Aerobic capacity, as indicated by maximal oxygen uptake (VO(2) max) has an important role in contrasting the traditional cardiovascular risk factors and preventing cardiovascular morbidity and mortality. It is known that endothelial function, measured as flow-mediated dilation (FMD) of the brachial artery, is strictly linked to atherogenesis and cardiovascular risk. However, the relationship between VO(2) max and FMD has not been fully investigated especially in healthy non-obese subjects. This preliminary study cross-sectionally investigated the relationship between VO(2) max and FMD in 22 non-obese, healthy sedentary male subjects. Dividing the cohort in two subgroups of 11 subjects each …
Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of …
1999
Aims/hypothesis. The aim of this study was to screen part of the putative promoter sequence in addition to 14 potential phosphotyrosine residues of human IRS-2 for genetic variability which might cause changes in protein expression or function. Furthermore, the potential impact on insulin secretion and sensitivity of a previously identified IRS-2 variant (Gly1057Asp) was analysed Methods. The screenings were carried out by the SSCP-heteroduplex technique on DNA from Type II (non-insulin-dependent) diabetic patients. The impact of the Gly1057Asp variant was analysed in four glucose-tolerant Scandinavian study groups. Results. The results showed no nucleotide substitutions in the promoter seq…
Neuromuscular and physiological variables evolve independently when running immediately after cycling
2015
International audience; During the early period of running after cycling, EMG patterns of the leg are modified in only some highly trained triathletes. The majority of studies have analysed muscle EMG patterns at arbitrary, predetermined time points. The purpose of this study was to examine changes to EMG patterns of the lower limb at physiologically determined times during the cycle-run transition period to better investigate neuromuscular adaptations. Six highly trained triathletes completed a 10 min isolated run (IR), 30 min of rest, then a 20 min cycling procedure, before a 10 min transition run (C-R). Surface EMG activity of eight lower limb muscles was recorded, normalised and quantif…
Effects of joint angle and age on ankle dorsi- and plantar-flexor strength.
2007
This study aimed at examining the effects of joint angle and age on the maximal voluntary contraction (MVC) torque, for the agonist and antagonist muscle groups around the ankle, i.e., the dorsi- and plantar-flexors. To this aim, neural and muscular factors were investigated in two groups of healthy men: 11 young (mean age, 24 years) and 18 older (mean age, 78 years). Plantar-flexion (PF) and dorsiflexion (DF) isometric MVC torques were measured in three different ankle joint angles and surface electromyographic activities of the triceps surae and of the tibialis anterior muscles were recorded. The main findings were that the DF-to-PF MVC torque ratio varied with joint angle and age, indica…