Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Modelling Water Flow and Solute Transport for Horticultural and Environmental Management [PDF]
During the past 10 years, the simulation model SWAP (Soil, Water, Atmosphere, Plant) was developed by the Sub-Department Water Resources of Wageningen University jointly with the Department Water and Environment of Alterra Green World Research.
Dam, J.C., van, Feddes, R.A.
core +2 more sources
In silico simulation of reversible and irreversible swelling of mitochondria: The role of membrane rigidity [PDF]
Mitochondria have been widely accepted as the main source of ATP in the cell. The inner mitochondrial membrane (IMM) is important for the maintenance of ATP production and other functions of mitochondria.
Arieli+48 more
core +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang+7 more
wiley +1 more source
Repercussões da hiperinsuflação manual em recém-nascidos pré-termo sob ventilação mecânica
RESUMO Objetivo: Avaliar as repercussões da hiperinsuflação manual, realizada com ressuscitador manual com e sem válvula de pressão positiva expiratória final, sobre a função respiratória de recém-nascidos pré-termo em ventilação mecânica.
Camila Chaves Viana+4 more
doaj +1 more source
Background In newborn resuscitation the recommended rate of chest compressions should be 90 per minute and 30 ventilations should be delivered each minute, aiming at achieving a total of 120 events per minute.
Solevåg Anne L+3 more
doaj +1 more source
Capnothorax During Laparoscopy in Trendelenburg Position: A Rare Case Study
Pneumothorax is an infrequent complication of laparoscopic surgery. Most cases occur during upper abdominal surgery, since a head-down position (Trendelenburg) pushes the liver and peritoneum against the diaphragm, reducing gas release.
Ana Margarida Damas+3 more
doaj +1 more source
Improved physiological noise regression in fNIRS: a multimodal extension of the General Linear Model using temporally embedded Canonical Correlation Analysis [PDF]
For the robust estimation of evoked brain activity from functional Near-Infrared Spectroscopy (fNIRS) signals, it is crucial to reduce nuisance signals from systemic physiology and motion.
Boas, David A.+4 more
core +1 more source
ABSTRACT Objectives Repetitive transcranial magnetic stimulation (rTMS) is a non‐invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high‐frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth ...
Nabila Brihmat+8 more
wiley +1 more source
Sleep Apnea and Aortic Dissection
A 62-year-old man presented with obstructive sleep apnea, congestive heart failure and Cheyne-Stokes respiration. Further evaluation revealed a chronic dissecting aneurysm of the aorta causing vena caval obstruction.
Patrick J Hanly, David Ford
doaj +1 more source