Relationship between growth differentiation factor 15 and functional prognosis and severity in traumatic brain injury.

Circulating growth differentiation factor 15 (GDF-15) increases in response to inflammation and tissue damage. Its association with functional prognosis in cerebral infarction and subarachnoid hemorrhage is established; however, its role in traumatic brain injury (TBI) and its relationship with Sequential Organ Failure Assessment (SOFA) score, an indicator of systemic organ damage in TBI, remains unclear. This study aimed to explore the correlation between GDF-15 and functional outcomes at discharge in patients with TBI and stroke, including its association with SOFA scores in TBI.

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.

Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.

A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development.

Genetic studies in mice have shown that the zinc finger transcription factor BCL11B has an essential role in regulating early T cell development and neurogenesis. A de novo heterozygous missense BCL11B variant, BCL11B, was isolated from a patient with T cell deficiency and neurological disorders. Here, we show that mice harboring the corresponding Bcl11b mutation show the emergence of natural killer (NK)/group 1 innate lymphoid cell (ILC1)-like NKp46 cells in the thymus and reduction in TBR1 neurons in the neocortex, which are observed with loss of Bcl11a but not Bcl11b.

Endoscopic surgery for squamous cell carcinoma in the nasal cavity and ethmoid sinus: A retrospective observational study.

Objective: Reports of endoscopic surgery for squamous cell carcinoma of the nasal cavity and ethmoid sinus are limited. Herein, we present a comprehensive account of the results obtained from performing endoscopic surgery based on the concept of en bloc resection.

Methods: This was a retrospective observational study of patients who underwent nasal endoscopic surgery for squamous cell carcinoma of the nasal cavity and ethmoid sinus at a hospital between July 2018 and December 2021.