Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Acute Effect of Percussive Massage on Cross-Section Area, Muscle Strength, and Late Muscle Pain of the Quadriceps Muscle Following a Fatigue Protocol in Physically Active Men: Randomized Clinical Trial. [PDF]
da Rosa Castilho A +6 more
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
The nucleus as a mechanobiological hub in muscle aging. [PDF]
Esen O, Battey E, Stroud MJ, Kirby TJ.
europepmc +1 more source
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source
Device-Specific Sex- and Age-Stratified Distributions of Phase Angle and Skeletal Muscle Mass in a Routine Outpatient Multifrequency Bioelectrical Impedance Cohort. [PDF]
Cortés Sierra DE +2 more
europepmc +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Longitudinal five-year follow-up by muscle MRI and high-resolution nerve ultrasound in hereditary neuropathies. [PDF]
Vockert KL +7 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Two Cases of Secondary Anterior Perineal Hernia Repaired with a Pedicled Gracilis Muscle Flap. [PDF]
Chikaraishi K, Suwa K, Okamoto T, Eto K.
europepmc +1 more source

