Introduction: Magnetic resonance imaging (MRI) requires children to remain still for extended periods, often necessitating sedation, which carries risks and raises costs. Non-pharmacologic strategies such as video goggles, evening scheduling, mock MRI training, and child life specialist-led preparation have been explored. The effectiveness of parental presence, especially in younger children, remains underexamined.
View Article and Find Full Text PDFOrthop J Sports Med
July 2025
Background: Left-handed baseball pitchers exhibit unique throwing biomechanics, yet the risk factors for shoulder and elbow injuries in this population remain unclear.
Purpose: To prospectively investigate preseason risk factors for shoulder and elbow injuries in left-handed high school baseball pitchers.
Study Design: Cohort study; Level of evidence, 2.
Background: Differences in shoulder range of motion (ROM), shoulder muscle strength, and humeral torsion between left- and right-handed high school baseball pitchers remain poorly characterized.
Hypothesis: Similar differences in shoulder ROM, strength, and humeral torsion between right-handed pitchers (RHPs) and left-handed pitchers (LHPs) observed in professionals will also be present in high school pitchers, with potential variations due to developmental stages.
Study Design: Cross-sectional study; Level of evidence, 3.
A 13-year-old boy with a 3-month history of diarrhea was successfully treated for a rectal neuroendocrine tumor (NET) using endoscopic submucosal resection with ligation (ESMR-L). Rectoscopy revealed a submucosal tumor in the lower rectum, diagnosed as a rectal NET upon pathological examination. ESMR-L resulted in complete tumor resection without complications.
View Article and Find Full Text PDFIntroduction Ulnar nerve instability (UNI) is a common cause of ulnar neuropathy. The relationship between UNI and medial elbow instability has not yet been investigated in baseball pitchers. We investigated the association between UNI and the degree of ulnar collateral ligamentous laxity in high school baseball pitchers.
View Article and Find Full Text PDF: The repetitive overhead throwing of baseball stresses the posterior shoulder, including the rotator cuff and capsule, causing stiffness, tissue thickening, and dysfunction. Previous studies on collegiate baseball players have linked these changes to glenohumeral internal rotation deficits, pain, and injuries. However, these studies primarily used acoustic radiation force impulse-based shear wave elastography (SWE), which has limitations, including tissue heating and lack of portability.
View Article and Find Full Text PDFDiagnostics (Basel)
January 2025
: Non-invasive evaluations of muscle elasticity and tone are crucial in musculoskeletal medicine. Shear wave elastography (SWE) provides quantitative assessments of muscle elasticity, whereas train-of-four (TOF) monitoring measures muscle tone during neuromuscular blockades. This study investigated the relationship between muscle elasticity and tone during anesthesia induction using continuous SWE (C-SWE) and TOF monitoring.
View Article and Find Full Text PDFBackground: The Functional Movement Screen (FMS) is used to evaluate fundamental movement patterns in patients. It is unknown whether the FMS can be used as a predictive tool for the occurrence of pitching injuries in baseball players.
Purpose: To prospectively investigate the relationship between shoulder and elbow injuries and individual components of the FMS during the preseason in high school baseball pitchers and determine which components of the FMS can be used as screening tools to predict shoulder and elbow injuries.
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.
View Article and Find Full Text PDFObjective: Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disease affecting the central and peripheral nerves. We aimed to assess the pathophysiological features of peripheral nerve dysfunction in NIID.
Methods: We observed six unrelated NIID patients through clinical records, nerve conduction studies, and multiple measures of motor nerve excitability.
J Bone Joint Surg Am
November 2024
Background: A rotator cuff retear following arthroscopic rotator cuff repair (ARCR) is a concern in older patients. However, only a few of its risk factors are amenable to preoperative intervention. We aimed to elucidate the relationship between preoperative nutritional status and rotator cuff retears after ARCR.
View Article and Find Full Text PDFHum Genome Var
August 2024
Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant.
View Article and Find Full Text PDFNeurofibromatosis type 1 (NF1) is an autosomal dominant multi-organ disease. The clinical manifestations include not only skin lesions and malignant tumors but also lung complications, including pulmonary arterial hypertension (PAH). However, the association between gene mutations in NF1 and the occurrence of PAH has not yet been elucidated.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
November 2024
Objective: Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) has received attention due to its potential response to coenzyme Q10 (CoQ10) supplementation; however, the response has so far been limited and variable.
Methods: We report a SCAR9 patient with severe hypophosphatemia who responded well to CoQ10 and phosphate repletion.
Results: A 70-year-old man (the offspring of a consanguineous marriage) presented with cerebellar ataxia and intense fatigue after exercise.
Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, with its currently approved drugs, including riluzole and edaravone, showing limited therapeutic effects. Therefore, safe and effective drugs are urgently necessary. EPI-589 is an orally available, small-molecule, novel redox-active agent characterized by highly potent protective effects against oxidative stress with high blood-brain barrier permeability.
View Article and Find Full Text PDFDystonia is a movement disorder characterized by sustained muscle contractions that result in abnormal "patterned" movements and/or postural abnormalities. Based on the accompanying symptoms, dystonia can be classified as isolated (i.e.
View Article and Find Full Text PDFAll the currently used type A botulinum neurotoxins for clinical uses are of subtype A1. We compared the efficacy and safety for the first time head-to-head between a novel botulinum toxin A2NTX prepared from subtype A2 and onabotulinumtoxinA (BOTOX) derived from A1 for post-stroke spasticity. We assessed the modified Ashworth scale (MAS) of the ankle joint, the mobility scores of Functional Independence Measure (FIM), and the grip power of the unaffected hand before and after injecting 300 units of BOTOX or A2NTX into calf muscles.
View Article and Find Full Text PDFThe diagnosis of dystonia is sometimes complicated due to its many clinical manifestations, causes, and the lack of specific diagnostic examinations or simple algorithms [...
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