Results 91 to 100 of about 67,286 (306)
ABSTRACT Introduction/Aims Myasthenia gravis (MG) is characterized by fluctuating symptoms, making the assessment of disease activity challenging. Discordance between the clinician‐reported quantitative myasthenia gravis (QMG) score and the patient‐reported MG activity of daily living (MG‐ADL) has previously been observed.
Wanqing Wu+3 more
wiley +1 more source
Functional characterization of orbicularis oculi and extraocular muscles [PDF]
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David+5 more
core +2 more sources
Congenita ptosis; Frequency of congenital ptosis.
Objectives: To compare the frequency of congenital ptosis of Pakistani children with the children of the world. Study Design: Comparative study. Setting: Al Shifa Tertiary Eye Hospital Rawalpindi. Period: August 2013 to September 2016. Material & Methods: The record of admitted patients of all malformations of eyes was collected from pediatric eye ...
openaire +2 more sources
Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li+10 more
wiley +1 more source
Congenital fibrosis of the extraocular muscles
Background : Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles ...
Pascale Cooymans+3 more
doaj +1 more source
Constitutively Active Galpha q and Galpha 13 Trigger Apoptosis through Different Pathways [PDF]
We investigated the effect of expression of constitutively active Galpha mutants on cell survival. Transfection of constitutively active Galphaq and Galpha13 in two different cell lines caused condensation of genomic DNA and nuclear fragmentation ...
Althoefer, Henning+2 more
core
Abstract Background Disorders of the vestibular system are frequent in cats. This study aimed to describe the clinical presentation, diagnostic findings, underlying aetiologies and outcome of cats with peripheral vestibular syndrome (PVS). Methods This was a retrospective study of cats presented with PVS at four referral hospitals.
Jordina Caldero Carrete+5 more
wiley +1 more source
A review of attendances at Paediatric Accident and Emergency Department at Mater Dei Hospital for neurological complaints patient [PDF]
Aims: Attendances at paediatric accident and emergency department (A&E) during a six month period were reviewed to determine the proportion of children with neurological complaints, type of symptoms and the outcomes in terms of admissions ...
Attard, Stephen+3 more
core
Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto+2 more
core +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, EarlyView.
A George
wiley +1 more source