Results 191 to 200 of about 92,711 (302)

AI‐Assisted IoT‐Enabled ECG Monitoring: Integrating Foundational and Generative AI Tools for Sustainable Smart Healthcare—Recent Trends

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, Kandarpa Kumar Sarma, Lachit Dutta   +2 more
wiley   +1 more source

Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy. [PDF]

Eur J Neurol
Yee POP, Ip HHN, Yu MKL, Cheng PK, Wong WHS, Ng PPH, Kwong NST, Lam P, Cheung MW, Tung A, Chan S, Ng S, Yeung WL, Wong S, Gao Y, Pang S, Chan SHS.   +16 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy. [PDF]

Brain
Gerstner F, Wittig S, Menedo C, Ruwald S, Carlini MJ, Vankova A, Sowoidnich L, Martín-López G, Dreilich V, Alonso-Collado A, Pagiazitis JG, Aousji O, Grzyb C, Smith AK, Yang M, Roselli F, Mentis GZ, Sumner CJ, Pellizzoni L, Simon CM.   +19 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Epidemiology of Spinal Muscular Atrophy in Iceland: A Population-Based Study.

Neuroepidemiology
Mainka Sveindóttir AS, Sveinsson ÓÁ, Thors B, Elíasdóttir ÓJ.   +3 more
europepmc   +1 more source

Elective preterm birth for earlier spinal muscular atrophy treatment. [PDF]

Mol Ther Adv
Dangouloff T, Chantraine F, Hennuy N, Rigo V, Tribolet S, Brande LV, Servais L.   +6 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Onasemnogene Abeparvovec in Early-Onset Spinal Muscular Atrophy: An Indian Experience. [PDF]

Ann Indian Acad Neurol
Desai N, Roy S, Coutinho F, Kasar U.
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source