Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency.

Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast's excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells.

for an automated quantitative analysis of fibers orientation and organization in biological fibrous tissues.

Many biological fibrous tissues exhibit distinctive mechanical properties arising from their highly organized fibrous structure. In disease conditions, alterations in the primary components of these fibers, such as type I collagen molecules in bone, tendons, and ligaments, assembly into a disorganized fibers architecture generating a weak and/or brittle material. Being able to quantitatively assess the fibers orientation and organization in biological tissue may help improve our understanding of their contribution to the tissue and organ mechanical integrity, and assess disease progress and therapy effect.

Bilirubin Removal With Therapeutic Plasma Exchange Or Molecular Adsorbent Recirculating System (MARS®) As Treatment For Cholemic Nephropathy In Patients With Cirrhosis and ACLF: A case series.

Introduction: Cholemic nephropathy is an overlooked cause of acute kidney injury (AKI) in patients with advanced cirrhosis and high bilirubin plasma levels (usually above 20mg/dl), due to bilirubin and bile acid deposition in the kidneys. Those deposits have been hypothesized to cause tubular injury. It has no standardized diagnostic criteria or therapeutic strategies.

Factors affecting 1-year persistence with vedolizumab for ulcerative colitis: a multicenter, retrospective real-world study.

Background/aims: The objectives of this real-world study were to determine 1-year persistence with vedolizumab in patients with ulcerative colitis and to evaluate factors contributing to loss of response.

Methods: In this multicenter, retrospective, observational chart review, patients with moderately to severely active ulcerative colitis who received ≥ 1 dose of vedolizumab in clinical practice at 16 tertiary hospitals in Japan (from December 2018 through February 2020) were enrolled.

Results: Persistence with vedolizumab was 64.

Knowledge, Attitudes, and Practices in Colorectal Cancer Screening in the Philippines.

Background And Objective: Colorectal cancer (CRC) has the third highest incidence in the Philippines. Currently, there is a paucity in literature that is focused on the knowledge, attitudes, and perceptions of Filipinos regarding CRC screening. This is the first study in the Philippines that describes this.