Results 41 to 50 of about 12,625,233 (295)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China

Scientific Reports
Recessive monogenic disorders represent a significant cause of congenital malformations and disabilities in pediatric populations. The present study aims to provide the first comprehensive assessment of clinical experience with expanded carrier screening
Lu pan, Haiyan Luo, Tingting Huang, Huizhen Yuan, Yongyi Zou, Qing Lu, Baitao Zeng, Pengpeng Ma, Yan Yang, Ting Huang, Danping Liu, Bicheng Yang, Yanqiu Liu, Jun Zou, Fen Fu   +14 more
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Novel inflammatory markers for predicting adverse pregnancy outcomes in pregnant women with polycystic ovary syndrome: a retrospective case‒control study

BMC Pregnancy and Childbirth
Objective To investigate the potential predictive value of novel inflammatory markers for adverse pregnancy outcomes in pregnant women with polycystic ovary syndrome (PCOS). Methods A retrospective case‒control study was conducted.
Na Pan, Jing Zhang, Ning Zhu, Mengting Liu, Shuying Yang, Zhanshuai Song, Haibo Song   +6 more
doaj   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV

BMC Medical Genomics, 2023
Background Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris.
Yanan Wang, Yuqiong Chai, Pai Zhang, Weiwei Zang   +3 more
doaj   +1 more source

Kansas maternal and child health annual report. Maternal and Child Health Block Grant: Annual Report Maternal and Child Health Annual Report MCH Annual Report Maternal and Child Health Block Grant Application Maternal and Child Health Services Title V Block Grant Program ...Application/ ...Annual Report Maternal and Child Health Services Title V Block Grant, State Narrative for Kansas, Application for ..., Annual Report for ...

, 1993
Published FY 90-FY 93 by the Bureau of Maternal and Child Health; FY 94-FY 96 by Bureau for Children, Youth and ...
Kansas. Bureau of Maternal and Child Health
core   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source