Results 51 to 60 of about 35,482 (247)

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations

Turkish Journal of Immunology
Human inborn errors of immunity (IEI) are a group of distinct genetic disorders affecting children and adults, leading to recurrent infections, immune dysregulations, and malignancies.
Safa Barış, Talal A. Chatila
doaj   +1 more source

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source

Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

BMC Medical Genomics, 2021
Background Though massively parallel sequencing has been widely applied to noninvasive prenatal screen for common trisomy, the clinical use of massively parallel sequencing to noninvasive prenatal diagnose monogenic disorders is limited.
Chao Chen, Min Chen, Yaping Zhu, Lu Jiang, Jia Li, Yaoshen Wang, Zhe Lu, Fengyu Guo, Hairong Wang, Zhiyu Peng, Yun Yang, Jun Sun   +11 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Clinical Outcome, Socioeconomic Status and Psychological Constrains of Patients Undergoing Preimplantation Genetic Testing (PGT) in Northern Greece

Medicina, 2022
Background and objectives: Preimplantation genetic testing (PGT) offers patients the possibility of having a healthy baby free of chromosomal or genetic disorders.
Antonios Patrikiou, Alexandra Papadopoulou, Christos Noutsos, Panagiotis Tzekis, Nikolaos Koios, Ioannis Kourempeles, George Anifandis, Antonia Sioga, Grigoris Grimbizis, Basil C. Tarlatzis, Katerina Chatzimeletiou   +10 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Theme: New Frontiers in Detection and Predictions: Abstract 6: Monogenic Origins of Multisystem Fetal Malformations Leading to Stillbirth: A Retrospective Case Series

Preventive Medicine: Research & Reviews
Background: Lethal fetal anomalies are a major contributor to stillbirth and present significant diagnostic and counseling challenges, particularly when multiple organ systems are involved.
Sukriti Sharma, Monali, Neeta Singh, Sangeeta Yadav, Mandakini Pradhan   +4 more
doaj   +1 more source

Biological Treatments: New Weapons in the Management of Monogenic Autoinflammatory Disorders

Mediators of Inflammation, 2013
Treatment of monogenic autoinflammatory disorders, an expanding group of hereditary diseases characterized by apparently unprovoked recurrent episodes of inflammation, without high-titre autoantibodies or antigen-specific T cells, has been revolutionized
Antonio Vitale, Donato Rigante, Orso Maria Lucherini, Francesco Caso, Isabella Muscari, Flora Magnotti, Maria Giuseppina Brizi, Susanna Guerrini, Maria Patti, Leonardo Punzi, Mauro Galeazzi, Luca Cantarini   +11 more
doaj   +1 more source

B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency

Frontiers in Immunology, 2022
Common variable immunodeficiency (CVID) is a heterogeneous group of inborn errors of immunity characterized by reduced serum concentrations of different immunoglobulin isotypes.
Saba Fekrvand, Shaghayegh Khanmohammadi, Hassan Abolhassani, Hassan Abolhassani, Hassan Abolhassani, Reza Yazdani, Reza Yazdani, Reza Yazdani   +7 more
doaj   +1 more source