Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age.

Evaluating optic system compression in sellar tumors: A novel application of quantitative pupillometry.

Introduction: Tumorous growths in the sellar region pose significant clinical challenges due to their proximity to critical visual structures such as the optic chiasm and optic nerves. Given their proximity to the optic system, these tumors are often diagnosed due to a progressive decrease in visual acuity. Thus, surgical intervention is crucial to prevent irreversible damage, as timely decompression can halt the progression of edema and subsequent optic atrophy.

Biofilm application for anaerobic digestion: a systematic review and an industrial scale case.

Biofilm is a syntrophic community of microorganisms enveloped by extracellular polymeric substances and displays remarkable adaptability to dynamic environments. Implementing biofilm in anaerobic digestion has been widely investigated and applied as it promotes microbial retention time and enhances the efficiency. Previous studies on anaerobic biofilm primarily focused on application in wastewater treatment, while its role has been significantly extended to accelerate the degradation of lignocellulosic biomass, improve gas-liquid mass transfer for biogas upgrading, or enhance resistance to inhibitors or toxic pollutants.