Search results for "distal"

Root hair anatomy and morphology in Posidonia oceanica (L.) Delile and substratum typology: First observations of a spiral form

2018

Abstract The morpho-anatomical root hair features of P. oceanica ramets collected in meadows settled on different substrata (sand, matte and rock) were analysed. On each substratum, nine plagiothropic rhizomes each one composed by 3–6 interconnected short shoots were collected between April and May 2016 at 10 m of depth. On sand and on rock, the adventitious roots showed two distinct tubular and spiral-shaped hairs, clustered in yellowish-gray gelatinous pads. Tubular root hair tips were dactiliform and generally attached to grains of rock fragments. Moreover, a sub-circular swelling zone occurred. On matte , root hairs did not form gelatinous pads, were very short and had a simple distal p…

Deregulated Lipid Sensing by Intestinal CD36 in Diet-Induced Hyperinsulinemic Obese Mouse Model

2016

International audience; The metabolic syndrome (MetS) greatly increases risk of cardiovascular disease and diabetes and is generally associated with abnormally elevated postprandial triglyceride levels. We evaluated intestinal synthesis of triglyceride-rich lipoproteins (TRL) in a mouse model of the MetS obtained by feeding a palm oil-rich high fat diet (HFD). By contrast to control mice, MetS mice secreted two populations of TRL. If the smaller size population represented 44% of total particles in the beginning of intestinal lipid absorption in MetS mice, it accounted for only 17% after 4 h due to the secretion of larger size TRL. The MetS mice displayed accentuated postprandial hypertrigl…

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

2017

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

2017

GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA). The disease is characterized by distal muscle weakness in both the lower and upper extremities, with the quadriceps muscle relatively spared until the late stages of disease. To explore the role of SA synthesis in the disease, we conducted a comprehensive and systematic analysis of both free and total SA levels in a large cohort of GNEM patients and a mouse model. A sensitive LC/MS/MS assay was developed to quantify SA in serum and muscle h…

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, a…

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in fem…

2021

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals…

Epidemiological study on supracondylar fractures of distal humerus in pediatric patients

2019

Abstract Objective The purpose of this work is to study the epidemiology of patients with distal humerus supracondylar fractures in pediatric age treated in a tertiary hospital. Method A descriptive study was conducted on the epidemiological characteristics of distal humerus supracondylar fractures in pediatric patients treated in a tertiary hospital from January 1, 2014 to June 30, 2018. The following variables were analyzed: age, side of lesion, sex, type of Gartland’s classification, date of injury, mechanism, place and moment of trauma, therapeutic attitude, complications and associated fractures. Results A total of 140 patients were included in the study, with an average age of 5 years…

Arthroscopic Reinsertion of Acute Injuries of the Scapholunate Ligament Technique and Results

2020

Abstract Objective To describe a technique for treating acute injuries of the scapholunate ligament (SLL) by performing an arthroscopic reinsertion of the SLL and dorsal capsulodesis and to present the results obtained. Methods The study deals with an analytical, prospective clinical study that included 19 consecutive patients with acute injury of the SLL. The range of joint motion, grip strength, pain according to the visual analog scale, functional outcomes according to the Mayo Wrist Score (MWS), and the QuickDASH Score were studied preoperatively and 6 and 12 months postoperatively. The complications and necessary reinterventions were recorded. Results Nineteen patients with acute injur…

P2Y-mediated contractile responses in the longitudinal muscle of mouse distal colon: distinct signaling pathways

2008

Medial gastrocnemius muscle and tendon interaction during gait in typically developing children and children with cerebral palsy

2020

1. IntroductionEfficient gait is dependent on optimal interaction between musclesand tendons [1]. Pathological changes in the extensibility of the MGmuscle fascicles, whole muscle-belly and Achilles tendon have beenreported in children with spastic cerebral palsy (CP) [2]. Studying therelative length of these tissues during gait can improve our understandingof their dynamics and, inferably, the control strategies used inCP. In-vivo dynamic ultrasound imaging has been used to visualise theinteraction between the MG muscle and tendon during 3D gait analysis.However, most studies combined ultrasound imaging of one variable(either fascicles or muscle-belly and tendon) with some form ofmusculosk…