Search results for "GENETICS"

Nutrition in the genomics era: cardiovascular disease risk and the Mediterranean diet.

2007

The effect of dietary changes on phenotypes (i.e., plasma lipid measures, body weight and blood pressure) differs significantly between individuals. This phenomenon has been more extensively researched in relation to changes in dietary fat and plasma lipid concentrations for the prevention of cardiovascular disease (CVD) compared to other pathological conditions. Although common knowledge associates low fat diets with reductions in total and plasma LDL cholesterol, the clinical evidence shows dramatic inter-individual differences in response that are partially due to genetic factors. The discovery of the cardioprotective and other healthy properties of the Mediterranean diet has popularized…

An O2-sensitive glomus cell-stem cell synapse induces carotid body growth in chronic hypoxia.

2013

Summary Neural stem cells (NSCs) exist in germinal centers of the adult brain and in the carotid body (CB), an oxygen-sensing organ that grows under chronic hypoxemia. How stem cell lineage differentiation into mature glomus cells is coupled with changes in physiological demand is poorly understood. Here, we show that hypoxia does not affect CB NSC proliferation directly. Rather, mature glomus cells expressing endothelin-1, the O 2 -sensing elements in the CB that secrete neurotransmitters in response to hypoxia, establish abundant synaptic-like contacts with stem cells, which express endothelin receptors, and instruct their growth. Inhibition of glomus cell transmitter release or their sel…

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12

2011

A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical of AT such as frequent, severe infections of the respiratory tract. In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively reduced muscle tone with slackly protruding abdomen and undue drooling, excess fat on her upper arms, and severe oligoarthritis. A cranial…

Mitochondrial dysfunction in cholestatic liver diseases

2011

et al.

2018

Beyond the classical paradigm that presents the Anticipatory Postural Adjustments (APAs) as a manner to create forces that counteract disturbances arising from the moving segment during a pointing task, there is a controversial discussion about the role APAs to facilitate the movement and perform a task accurately. In addition, arm kinematics features are classically used to infer the content of motor planning for the execution and the control of arm movements. The present study aimed to disentangle the conflicting role of APAs during an arm-pointing task in which the subjects reach a central diode that suddenly turns on, while their postural stability was manipulated. Three postures were a…

29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome)

2007

Effects of a Rehabilitation Program on Perceived Environmental Barriers in Older Patients Recovering from Hip Fracture: A Randomized Controlled Trial

2013

Objectives. To study effects of a one-year multicomponent intervention on perceived environmental barriers in hip fracture patients.Design. Randomized controlled trial of a 12-month home-based rehabilitation aiming to improve mobility and function (ISRCTN53680197); secondary analyses.Subjects. Community-dwelling hip fracture patients on average 70 days after trauma (n=81).Methods. Assessments at baseline, 3, 6, and 12 months later included perceived entrance-related barriers (e.g., indoor/outdoor stairs, lighting, floor surfaces, and storage for mobility devices) and perceived barriers in the outdoor environment (poor street condition, hilly terrain, long-distances, and lack of resting plac…

P.10.18 Common data elements for muscle biopsy reporting

2013

Physicians commonly utilize the muscle biopsy to assist in the diagnosis of neuromuscular diseases. However, there is no current standard for evaluating or reporting on findings, and the resulting variability can impede accurate diagnoses and limit the utility of the muscle biopsy as a tool for clinical care, research, and stratifying patients for clinical trials. The National Institutes of Neurological Disorders and Stroke (NINDS) recently launched a Common Data Element (CDE) in an effort to standardize neuromuscular data collected in clinical reports. For this study, the authors adapted the NINDS Muscle Biopsy CDE to generate a form for prospective muscle biopsy reporting (CDE-R). This fo…

2015

Several point mutations have been identified in human aquaporins, but their effects on the function of the respective aquaporins are mostly enigmatic. We analyzed the impact of the aquaporin 2 mutation V71M, which causes nephrogenic diabetes insipidus in humans, on aquaporin structure and activity, using the bacterial aquaglyceroporin GlpF as a model. Importantly, the sequence and structure around the V71M mutation is highly conserved between aquaporin 2 and GlpF. The V71M mutation neither impairs substrate flux nor oligomerization of the aquaglyceroporin. Therefore, the human aquaporin 2 mutant V71M is most likely active, but cellular trafficking is probably impaired.

3D virtual histopathology of cardiac tissue from Covid-19 patients based on phase-contrast X-ray tomography

2021

eLife 10, e71359 (2021). doi:10.7554/eLife.71359