Results 211 to 220 of about 7,599,301 (308)

Rare diseases, rare presentations

A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs.
Ars, Elisabet||, Torra Balcells, Roser||
openaire   +1 more source

LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield. [PDF]

NEJM AI
Jaech A, Cheatham M, Shringarpure SS, Genetti CA, Pradhan P, Bagul A, Panch T, Rader B, Sewalk K, Distler R, Anderson KN, Stewart M, Lejfer S, Glahn DC, Goldstein RD, Wojcik M, Beggs AH, Brownstein JS, Brownstein CA.   +18 more
europepmc   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

P383: Genetic counseling for clinical sequencing: Addressing variants of uncertain significance in rare disease diagnosis

Genetics in Medicine Open
Sumin Ji, Hyon Kim
doaj   +1 more source

Identifying barriers and policy priorities for rare disease research in underrepresented European countries. [PDF]

Eur J Public Health
Lace B, Inashkina I, Dan D, Weinman A, Adam P, Kvlividze O, Tumiene B, Isidro A, Pereira CA, Teixeira G, Crowley RK, ERDERA UC Stakeholder Panel.   +11 more
europepmc   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Application of knowledge graphs in rare disease research. [PDF]

Front Public Health
Fei Y, Ding H, Tong S, He Y, Cai W.
europepmc   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Capsule-enhanced hierarchical vision transformers for rare disease classification from medical images. [PDF]

Sci Rep
Krishna ESP, Mamidisetti G, Vellela SS, Lella KK, Duggineni V, Balakrishna N.   +5 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source