Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.

Background: Through the agnostic screening of patients with uncharacterised disease phenotypes for an upregulation of type I interferon (IFN) signalling, we identified a cohort of individuals heterozygous for mutations in PTPN1, encoding the protein-tyrosine phosphatase 1B (PTP1B). We aimed to describe the clinical phenotype and molecular and cellular pathology of this new disease.

Methods: In this case series, we identified patients and collected clinical and neuroradiological data through collaboration with paediatric neurology and clinical genetics colleagues across Europe (Czechia, France, Germany, Italy, Slovenia, and the UK) and Israel.

Trunk impact conditions in real PTW accidents based on multibody numerical reconstructions.

Objective: In Europe, Powered Two-Wheelers (PTW) riders are involved in 15% of all traffic fatalities and the most serious injuries are sustained on the trunk and the head. The aim of this work is to study motorcyclist impact conditions through the reconstruction of 8 real accidents leading to AIS3+ trunk injuries.

Methods: Based on multi-body simulations, key parameters such as impact speed, body impact angles and impacted obstacles are deeply analyzed to determine their influence on injury severity.

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.

IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.

Generating fair, reliable, and accurate neuropsychological test norms for people with HIV in a low- or middle-income country.

Effective neuropsychological assessment of people with HIV (PWH) in low- and middle-income countries (LMICs) is hampered by the unavailability of adequate test norms. We aimed to: (1) develop demographically-corrected (regression-based) South African (SA) normative data for an HIV appropriate neuropsychological test battery for Xhosa home-language speakers; (2) compare the utility of those norms to that of (i) internal standardization norms and (ii) US test publisher norms; and (3) determine the criterion validity of the newly-developed norms. 114 controls and 102 demographically comparable Xhosa home-language people living with HIV completed a well-establised, standard HIV neuropsychological test battery assessing seven cognitive domains.