Results 61 to 70 of about 40,635 (255)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury

Annals of Neurology, EarlyView.
Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen, Justin M. Brown, Ross M. Mandeville, Harvey Wu, Sean Bristol, Peter K. Broadhurst, Erin Brown, Christopher Doherty, Amy K. Hanlan, Russell O'Connor, Lawrence R. Robinson, Kayton Rotenberg, J. Michael Hendry, Jana Dengler, Michael J. Berger   +14 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Piezoelectric Nanocomposite Hydrogel for Wireless Neural Stimulation and Tissue Augmentation

Advanced NanoBiomed Research, EarlyView.
A cell/tissue supporting piezoelectric hydrogel system (PZ‐gel) that incorporates ferroelectric, pyroelectric, and piezoelectric ceramic material barium titanate into an alginate/carboxymethyl chitosan hydrogel. The PZ‐gel can be sonoactivated for wireless neural cell and tissue stimulation, with the potential to be used as a stimulatory cell substrate
Mohammad Mohammadi, Eva Tomaskovic‐Crook, Peter C. Innis, Jeremy M. Crook   +3 more
wiley   +1 more source

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation

Frontiers in Genetics
A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development.
Ewa Gajewska, Jędrzej Fliciński, Magdalena Sobieska, Joanna Michalska, Marcin Żarowski, Barbara Steinborn   +5 more
doaj   +1 more source

Rehabilitation management for patients with spinal muscular atrophy: a review

Orphanet Journal of Rare Diseases
The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj   +1 more source