Prepancreatic postduodenal portal vein discovered in a pediatric patient undergoing total pancreatectomy with islet autotransplantation: a case report and review of literature.

Background: Prepancreatic postduodenal portal vein (PPPV) is a rare anatomic variant where the portal vein (PV) runs anterior to the pancreas and posterior to the duodenum. Only 20 cases of PPPV, all in adults, have been reported in literature. We report the first case of PPPV in a pediatric patient discovered intraoperatively during total pancreatectomy with islet autotransplantation (TPIAT) and the third known case in which the PPPV could be isolated intraoperatively.

Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.

Objective: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype correlations in a real-world cohort of children with SCN1A-associated epilepsy.

Mandibular Reconstruction With a Patient-Specific Implant Following Surgical Excision of an Acanthomatous Ameloblastoma in a Dog.

Canine acanthomatous ameloblastoma (CAA) is an invasive benign epithelial odontogenic tumour most commonly affecting the mandible of large breed dogs. To the author's knowledge, this report describes the first computer-aided design patient-specific implant (PSI) that has been placed for a critical sized bone defect in mandibular reconstruction of a dog in the UK. The aim was to restore mandibular stability using a regenerative approach combining a titanium locking plate and compression-resistant matrix infused with recombinant human bone morphogenetic protein-2 (rhBMP-2) to bridge the 85 mm mandibular defect created by a segmental mandibulectomy.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Economic Evidence in Occupational Therapy: A Rapid Review.

Given the necessity to demonstrate that occupational therapy services are a good use of resources, understanding the state of economic evidence is essential. This article presents a of this evidence. Relevant articles were identified using SCOPUS.