Results 101 to 110 of about 2,985,698 (230)
Clinical and laboratory correlates of selective autonomic dysfunction due to Ross syndrome
Ross syndrome is diagnosed by the presence of the characteristic triad of segmental anhidrosis, depressed deep tendon reflex, and tonic pupils. It is a rare, misdiagnosed autonomic disorder with less than 80 cases reported in the world literature.
Samhita Panda +4 more
doaj +1 more source
Clinical, Pathological, and Imaging Study of Pilomatrixoma: A Retrospective Study
ABSTRACT Background and Aims A retrospective analysis was conducted on the clinical, pathological, and imaging features of 471 cases of pilomatrixoma, aiming to enhance clinicians' understanding of pilomatrixoma. Methods A total of 471 cases of pilomatrixoma diagnosed and surgically treated in the Affiliated Hospital of Southwest Medical University ...
Qi Hao +4 more
wiley +1 more source
Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata +7 more
doaj +1 more source
ABSTRACT Background Duchenne muscular dystrophy (DMD) is a severe, life‐limiting neuromuscular disorder (NMD) characterized by progressive muscle wasting and mitochondrial dysfunction. Although gene therapies offer promise, even those already approved by regulatory agencies, their use remains constrained by mutation specificity, delivery challenges and
Sean Y. Ng +12 more
wiley +1 more source
An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Ci Zhu +11 more
wiley +1 more source
A practical approach to the patient presenting with dropped head [PDF]
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients
BackgroundMyotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be
L. Schilling +3 more
semanticscholar +1 more source
In our cohort, probable REM sleep behavior disorder (pRBD) was identified in 11.6% of essential tremor (ET) patients, while a meta‐analysis yielded pooled prevalence estimates of 16% for pRBD and 14% for RBD. Compared to ET patients without pRBD, those patients with pRBD exhibited a higher frequency of midline tremor, rest tremor, and a significantly ...
Yuzheng Wang +17 more
wiley +1 more source
Searching for candidate genes for male infertility [PDF]
Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and ...
Armes, JE +4 more
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