Results 321 to 330 of about 10,414,754 (372)
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
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun+19 more
wiley +1 more source
ABSTRACT Background Stroke is a leading cause of long‐term disability in adults, with upper limb hemiparesis being a common impairment. Traditional training is mostly aimed at paralyzed limbs, but the effect of bilateral training is still unclear.
Fangfang Qian+7 more
wiley +1 more source
ICU‐EEG Pattern Detection by a Convolutional Neural Network
ABSTRACT Objective Patients in the intensive care unit (ICU) often require continuous EEG (cEEG) monitoring due to the high risk of seizures and rhythmic and periodic patterns (RPPs). However, interpreting cEEG in real time is resource‐intensive and heavily relies on specialized expertise, which is not always available.
Giulio Degano+5 more
wiley +1 more source
Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan+12 more
wiley +1 more source
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague+8 more
wiley +1 more source
Advanced Reproductive Techniques in Goats [PDF]
The use of ultrasonography for pregnancy diagnosis and reproductive tract evaluation in the goat has become more common in the past decade. Pregnancy-specific hormone assays are commercially available for pregnancy determination in goats. Hormonal methods of synchronization of estrus for artificial insemination have been refined, but a number of ...
Katherine Bretzlaff, Juan E. Romano
openaire +2 more sources
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Reproductive Techniques in Sheep
Veterinary Clinics of North America: Food Animal Practice, 2001This article reviews current methods of evaluating reproductive performance in the sheep industry. The reproductive technologies of breeding soundness examination, reproductive ultrasonography, estrus manipulation, artificial insemination, and embryo transfer are also extensively discussed.
Cleon Kimberling+3 more
openaire +3 more sources
Complications of assisted reproductive techniques
Fertility and Sterility, 1994To review and appreciate the relevant data on assisted reproduction techniques and their potential complications.Major publications on assisted reproduction that include the information concerning complications associated with this practice.Assisted reproduction is a common practice in modern reproductive medicine.
Yossef Ezra, Joseph G. Schenker
openaire +3 more sources