Results 81 to 90 of about 605,611 (288)
Rehabilitation in spinal muscular atrophy
The Journal of the International Society of Physical and Rehabilitation Medicine, 2019 Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead +3 more
doaj +1 more source
, 2011 Objective. Use of Denaturing High-Performance Liquid Chromatography ( DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). Methods. Thirty-three members of 7 families participated in carrier test and disease detection of SMA.
蕭勝文;鄭博仁;張舜智;林玉婷;洪加政;陳持平;蘇怡寧 +1 more
core +1 more source
AI &Innovation, EarlyView.ABSTRACT The rapid evolution of the Internet of Things (IoT) has significantly advanced the field of electrocardiogram (ECG) monitoring, enabling real‐time, remote, and patient‐centric cardiac care. This paper presents a comprehensive survey of AI assisted IoT‐based ECG monitoring systems, focusing on the integration of emerging technologies such as ...
Amrita Choudhury +2 more
wiley +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Carrier testing for spinal muscular atrophy.
, 2010 Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer
Crawford, Thomas O +14 more
core +2 more sources
Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh +5 more
wiley +1 more source
Angewandte Chemie, EarlyView.NMR screening is a powerful method for hit detection in drug‐discovery. We designed and validated the OpenFL600 19F$^{19}{\rm F}$ NMR library to probe diverse targets, including RNA, GPCRs, kinases, and proteases. This library yields target‐specific ligands without generating promiscuous binders.
Simon H. Rüdisser +16 more
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice +10 more
wiley +1 more source