Results 51 to 60 of about 1,722 (231)

Diabetic Peripheral Neuropathy: Molecular Staging, Risk Factors, Therapeutics, and Emerging Trends

Med Research, EarlyView.
The heterogeneous landscape of DPN can be unified through a tripartite pathogenic model encompassing progressive stages of metabolic dysregulation, chronic inflammation, and overt neuronal damage. Within this framework, six clinical subtypes were identified, namely, hyperglycemia‐driven, dyslipidemia‐driven, inflammation‐driven, dysvascularity‐driven ...
Xiaofeng Dai, Mingze Tang
wiley   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

GARS- related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment [PDF]

, 2020
The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA- like disorders that are independent of SMN1, including those due to pathogenic variants ...
Antonellis, Anthony, Bernes, Saunder, Bharucha‐goebel, Diana, Bi, Weimin, Bonnemann, Carsten, Crosby, Kathleen, Ghosh, Rajarshi, Hong, William, Kuo, Molly E., Lim, Jaehyung, Lotze, Timothy, Manberg, Stephanie, Markovitz, Rebecca, Mizerik, Elizabeth, Mohila, Carrie A., Potocki, Lorraine, Tanpaiboon, Pranoot, Woodbury, Suzanne, Xiao, Rui   +18 more
core   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Perioperative rehabilitation management for a child with spinal muscular atrophy: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
LI Wen‑zhu, WANG Chen‑hao, HUANG Zhen, WEI Cui‑jie, XIONG Hui, XU Bei‑yu, LI Chun‑de, QUE Cheng‑li   +7 more
doaj   +1 more source

The role of experiential knowledge within attitudes towards genetic carrier screening : a comparison of people with and without experience of spinal muscular atrophy [PDF]

, 2018
Purpose: Autosomal recessive conditions, whilst individually rare, are a significant health burden with limited treatment options. Population carrier screening has been suggested as a means of tackling them.
Boardman, Felicity K., Griffiths, Frances, Warren, O., Young, P.   +3 more
core  

Expressive language and social communication abilities in children with spinal muscular atrophy type 1. [PDF]

Dev Med Child Neurol
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Brusa C, Buchignani B, Cutri C, Coratti G, Clark E, Johnson E, Cornell N, Scoto M, Pane M, Mercuri EM, Muntoni F, Baranello G, Language and Social Communication in SMA working group.   +12 more
europepmc   +2 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Motor Disability and Resilience in University Students [PDF]

, 2018
Motor disability is a situation that induces disadvantage in people who suffer from it about healthy people. This situation can be accentuated in the case of university students who must fulfill diverse activities that demand different degrees of ...
Briones, M. F. (Marcelo), Intriago, H. A. (Hipatia), Ruiz, M. S. (Marlene)   +2 more
core  

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source