This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista +31 more
wiley +1 more source
Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak +9 more
wiley +1 more source
From Expectations to Experience: A Comparison of Program Director Priorities to Resident Case Logs
The present study identified 47 essential otolaryngology procedures via program director surveys and evaluated the extent of resident participation in these cases through ACGME case logs. Results revealed significant variability in surgical experience, with nearly half of these essential procedures being logged fewer than 10 times during residency ...
Taylor S. Erickson +7 more
wiley +1 more source
Early tracheostomy for neurologic critical care patients improves neurologic function and reduces pulmonary infections. [PDF]
Zhao J, Yao Y, Fang L, Zhou H, Zhou J.
europepmc +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Association of early tracheostomy with length of stay and mortality in critically ill patients. [PDF]
Patel AM +6 more
europepmc +1 more source
Value‐Based Neuromonitoring in Thyroidectomy: A Comprehensive Cost–Utility Analysis
ABSTRACT Objective To compare the cost–utility of major intraoperative neuromonitoring (IONM) strategies in thyroidectomy across commercial platforms, and to quantify the impact of continuous IONM (CIONM), automated nerve trend monitoring, postoperative laryngoscopy policy, and technical failure on total episode costs and medicolegal burden.
Daqi Zhang +4 more
wiley +1 more source
The Field Attributes May not Accurately Predict the Need for Early Tracheostomy Tube Insertion in Severe TBI Patients: A New Insight With the Help of AI Algorithms. [PDF]
Habibzadeh A +6 more
europepmc +1 more source
Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN‐Related Myopathies
ABSTRACT Introduction/Aims Biallelic pathogenic variants in TTN cause rare forms of early‐onset myopathy, manifesting with variable severity, distribution, and progression of muscle weakness, often associated with respiratory insufficiency and potentially cardiomyopathy. The large size of TTN and phenotypic heterogeneity in TTN‐related myopathy (TTN‐RM)
Abigail Potticary +3 more
wiley +1 more source

