Results 171 to 180 of about 121,688 (385)

Clinlabomics‐Enabled Blending Ensemble Learning for Low‐Cost Pan‐Cancer Detection and Classification Using Routine Clinical Laboratory Data

Advanced Intelligent Systems, EarlyView.
Researchers develop clinlabomics assisted for cancer identification, an artificial intelligence‐powered system using routine clinical lab data to detect and identify 10 cancer types. Tested on 19 199 individuals, it achieves 90.39% sensitivity and 82.41% specificity in cancer detection, with 72.57% accuracy in identifying specific cancer types ...
Bowen Zhang, Lin Li, Long Cheng, Yujie Liu, Zhaoqing Liu, Jiangpeng Wu, Pengyi Zhang, Jiarui Wang, Dedui Zhang, Shuyan Li   +9 more
wiley   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1

Frontiers in Neurology
A rare autosomal recessive genetic disease is spinal muscular atrophy with respiratory distress type 1 (SMARD 1; OMIM #604320), which is characterized by progressive distal limb muscle weakness, muscular atrophy, and early onset of respiratory failure ...
Chaoai Zhou, Zefu Chen, Qiqing Chen, Xiaowei Feng   +3 more
doaj   +1 more source

Progressive Spinal Muscular Atrophy (Duchenne-Aran) following Electric Shock; Positive Wassermann Reaction [PDF]

, 1917
F. Parkes Weber
openalex   +1 more source

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? [PDF]

, 2018
The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence.
Downs, Jenny, Hince, Dana, Patman, Shane, Travlos, Vivienne, Wilson, Andrew   +4 more
core   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Clinical research advance of therapeutic strategies for spinal muscular atrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy caused by degeneration of brain stem and spinal cord motor neurons. SMA is common genetic neuromuscular disorder that
Jing LI, Cheng ZHANG
doaj  

[Calculation of the prevalence of progressive muscular atrophy among adults in China based on urban medical insurance data from 15 provinces]. [PDF]

Beijing Da Xue Xue Bao Yi Xue Ban, 2020
Xu L, Chen L, Fan DS, Feng JN, Liu LL, Zhan SY, Wang SF.   +6 more
europepmc   +1 more source

A CASE OF PROGRESSIVE MUSCULAR ATROPHY, WITH DISEASE OF THE NUCLEI OF THE BULB AND THE CORTEX [PDF]

, 1892
NULL AUTHOR_ID
openalex   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source