Annals of Clinical and Translational Neurology, EarlyView.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
Current management of impingement syndrome and repairable rotator cuff tears in South Korea: A web-based survey. [PDF]
Asia Pac J Sports Med Arthrosc Rehabil TechnolKim H +5 more
europepmc +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Possible limits and emerging risks of large language models in diagnostic surgical pathology - a dual-specialty perspective. [PDF]
Clinics (Sao Paulo)Sengul I, Sengul D.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Intraoperative Assessment of Anatomical Resection Margin Using a Novel Asymmetric Linear Stapler: An Initial Single Institution Experience. [PDF]
Interdiscip Cardiovasc Thorac SurgChong Y +8 more
europepmc +1 more source
Upper Cervical Cord Area as a Biomarker of Conversion to Secondary Progressive Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study assessed whether upper cervical cord area (UCCA) measured on routine brain MRI can serve as a biomarker of conversion to SPMS. Methods This is a single‐center retrospective cohort study of RRMS patients with cross‐sectional and longitudinal analyses of clinical and MRI data. Future SPMS converters were matched by age, sex,
Nabil K. El Ayoubi +8 more
wiley +1 more source
Colo-Salpingeal Fistula and Secondary Tubo-Ovarian Abscess as Rare Complications of Sigmoid Diverticulitis: A Case Report. [PDF]
CureusFuller C, Bou Zgheib N, Diks J.
europepmc +1 more source