Results 11 to 20 of about 32,354 (195)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Adjuvant pharmacological strategies for the musculoskeletal system during long‐term space missions

British Journal of Clinical Pharmacology, EarlyView., 2023
Abstract Despite 2 h of daily exercise training, muscle wasting and bone loss are still present after 6‐month missions to the international space station. Some crew members lose bone much faster than others. In preparation for missions to the Moon and Mars, space agencies are therefore reviewing their countermeasure portfolios.
Friederike Thomasius, Dominik Pesta, Jörn Rittweger   +2 more
wiley   +1 more source

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study

Annals of Neurology, EarlyView.
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano, Ilaria Mosca, Licia Salimbene, Angela De Dominicis, Paolo Ambrosino, Deborah Puzo, Ilenio Servettini, Cinzia Correale, Chiara Falamesca, Cristina Filosomi, Bianca Goffredo, Maria Virginia Soldovieri, Maurizio Taglialatela, Nicola Specchio   +13 more
wiley   +1 more source

Cyclic Alternating Pattern Dynamics in Individuals at Risk for Developing Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The objective of this study was to investigate the differences in cyclic alternating patterns (CAP) metrics, a non‐rapid eye movement (NREM) sleep physiological rhythm, among recently diagnosed patients with Parkinson's disease (PD), and individuals at high and low risk for developing PD based on genetic and prodromal risk.
Andrew Dagay, Shlomit Katzav, Danielle Wasserman, Valentina Gnoni, Anat Mirelman, Riva Tauman   +5 more
wiley   +1 more source

Wearable Biomonitoring with 2D Carbon‐Based Nanocomposite Hydrogels

Advanced Physics Research, EarlyView.
This review critically examines recent advancements in nanocomposite hydrogels, emphasizing the reinforcement mechanisms offered by 2D carbon‐based nanomaterials and exploring the various applications of these hydrogels. Furthermore, it discusses the current challenges and potential avenues for future development and practical implementation of ...
Ning Li, Xiao Xiao, Yu Li, Ruobing Cheng, Junyi Yin, Hulin Zhang, Jun Chen   +6 more
wiley   +1 more source

Deciphering the skeletal interoceptive circuitry to control bone homeostasis

BMEMat, EarlyView.
This review introduces the skeletal interoceptive circuitry, covering the ascending signals from bone tissues to the brain (sensors), the central neural circuits that integrate this information and dispatch commands (CPU), and the descending pathways that regulate bone homeostasis (effectors).
Yefeng Wu, Jiusi Guo, Zhen Chen, Fengwei Zhang, Billy Kwok Chong Chow, Zhuofan Chen, Kelvin Wai‐Kwok Yeung, Wei Qiao   +7 more
wiley   +1 more source

Nationwide resource utilization of dizziness/vertigo presentations to the ED

Eye &ENT Research, EarlyView.
Abstract Objective This study aims to assess overall rates of neuroimaging (computed tomography [CT] or magnetic resonance imaging [MRI]) and cerebrovascular accidents (CVAs) in patients presenting to the emergency department (ED) with primary diagnoses of dizziness/vertigo to determine if neuroimaging is overused in this population.
David O’Neil Danis III, Matthew Kovoor, Emily K. Gjini, Jonathon S. Sillman, Kathryn Y. Noonan   +4 more
wiley   +1 more source