Results 281 to 290 of about 755,873 (344)

Optimized DeepLabV3+ for Clinical Data Analysis through Advanced Particle Swarm Optimization‐Based Channel Selection

Advanced Intelligent Systems, EarlyView.
A novel medical image segmentation framework that integrates an enhanced Particle Swarm Optimization (EE‐PSO) into DeepLabV3+ to optimize feature selection. By dynamically identifying key channels in the atrous spatial pyramid pooling module, the method improves segmentation performance, achieving mIoU gains of 2.7% on Alzheimer's and 2.8% on brain ...
Alireza Norouziazad, Behrouz Homam, Ariel Feygin, Mahan Najafpour Ghazvini Fardshad, Shahak Rozenblat, Abed Matinpour, Arman Laly, Fatemeh Esmaeildoost, Razieh Salahandish   +8 more
wiley   +1 more source

Health Care Use Before Multiple Sclerosis Symptom Onset.

JAMA Netw Open
Ruiz-Algueró M, Zhu F, Chertcoff A, Zhao Y, Marrie RA, Tremlett H.   +5 more
europepmc   +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

Identification of cellular factors associated with inflammation and neurodegeneration in multiple sclerosis. [PDF]

Front Immunol
Rodero-Romero A, Fernández-Velasco JI, Monreal E, Sainz-Amo R, Álvarez-Lafuente R, Comabella M, Ramió-Torrentà L, García-Domínguez JM, Villarrubia N, Sainz de la Maza S, Domínguez-Mozo M, Quiroga-Varela A, Chico-García JL, Rodriguez-Jorge F, Veiga-Gonzalez JL, Roldán-Santiago E, Espiño M, Rodríguez-Martín E, Álvarez G, Masjuan J, Montalban X, Costa-Frossard L, Villar LM.   +22 more
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

The Inner Nuclear Layer in Pediatric Multiple Sclerosis. [PDF]

Neurol Neuroimmunol Neuroinflamm
Hummel-Abmeier H, Naxer S, Kadas EM, Zimmermann H, Knaack B, Huppke P, Kowallick A, Meier K, Brandt AU, Paul F, Schittkowski M, Oertel FC, Gärtner J.   +12 more
europepmc   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Active tuberculosis and multiple sclerosis: the importance of screening before treatment. [PDF]

Arq Neuropsiquiatr
Amorim LS, Zaidan PPT, Menezes FTL, Oliveira EML.   +3 more
europepmc   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Corrigendum: Dysphagia in multiple sclerosis: pathophysiology, assessment, and management-an overview. [PDF]

Front Neurol
Restivo DA, Quartarone A, Bruschetta A, Alito A, Milardi D, Marchese-Ragona R, Iezzi E, Peter S, Centonze D, Stampanoni Bassi M.   +9 more
europepmc   +1 more source