Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder.

Objective: The CDKL5 Clinical Severity Assessment (CCSA) is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD), a genetically caused developmental epileptic encephalopathy (DEE). The CCSA is divided into clinician-reported (CCSA-Clinician) and caregiver-reported (CCSA-Caregiver) assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis (CFA) and evaluate their validity and reliability.

Laparoscopic Heller Myotomy in a Patient With Achalasia and Isolated Situs Inversus of the Liver.

Achalasia is a rare esophageal motility disorder characterized by incomplete lower esophageal sphincter (LES) relaxation, increased LES tone, and absent peristalsis in the esophagus. Management of achalasia includes pneumatic dilation (PD), Botulinum toxin A (BTA) injections to LES, per oral endoscopic myotomy (POEM), and a laparoscopic Heller myotomy (LHM). Situs inversus is a rare congenital condition in which the abdominal and thoracic organs are located in a mirror image of the normal position in the sagittal plane.

Trending Weight Loss Between Usual Care and Bariatric Surgery Among Higher Weight Persons With Obstructive Sleep Apnea.

Background This study aimed to investigate the actual weight change documented as a goal of treatment after patients were newly diagnosed with obstructive sleep apnea (OSA). We hypothesized that patients with OSA and classified as overweight and obese based on BMI would fail to achieve significant weight loss over a two- to five-year period. Methodology This retrospective review included adults aged 18 years or older who were newly diagnosed with OSA in 2015, as indicated by a full nocturnal polysomnogram and using the 4% rule for the definition of hypopnea.

Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

Background: Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disorder characterized by iron accumulation in the brain with spectrum of neurodevelopmental and movement phenotypes. In anticipation of future clinical trials and to inform clinical care, there is an unmet need to capture the phenotypic diversity of this rare disorder and better define disease subtypes.

Methods: A total of 27 individuals with BPAN were included in our natural history study, from which traditional outcome measures were obtained in 18 subjects.