Pathogenic PHIP Variants are Variably Associated With CAKUT.

Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney disease in children. Although only 20% of cases can be genetically explained, the majority remain without an identified underlying etiology. The neurodevelopmental disorder Chung-Jansen syndrome (CHUJANS) is caused by haploinsufficiency of Pleckstrin homology domain-interacting protein (PHIP) and was previously associated with genital malformations.

Identification and characterisation of tertiary lymphoid organs in human type 1 diabetes.

Aims/hypothesis: We and others previously reported the presence of tertiary lymphoid organs (TLOs) in the pancreas of NOD mice, where they play a role in the development of type 1 diabetes. Our aims here are to investigate whether TLOs are present in the pancreas of individuals with type 1 diabetes and to characterise their distinctive features, in comparison with TLOs present in NOD mouse pancreases, in order to interpret their functional significance.

Methods: Using immunofluorescence confocal microscopy, we examined the extracellular matrix (ECM) and cellular constituents of pancreatic TLOs from individuals with ongoing islet autoimmunity in three distinct clinical settings of type 1 diabetes: at risk of diabetes; at/after diagnosis; and in the transplanted pancreas with recurrent diabetes.

Staphylococcus aureus requires less virulence to establish an infection in diabetic hosts.

Staphylococcus aureus is the most frequent pathogen causing diabetic foot infections. Here, we investigated the degree of bacterial virulence required to establish invasive tissue infections in diabetic organisms. Staphylococcal isolates from diabetic and non-diabetic foot ulcers were tested for their virulence in in vitro functional assays of host cell invasion and cytotoxicity.

Tailored Buckling Microlattices as Reusable Light-Weight Shock Absorbers.

Structures and materials absorbing mechanical (shock) energy commonly exploit either viscoelasticity or destructive modifications. Based on a class of uniaxial light-weight geometrically nonlinear mechanical microlattices and using buckling of inner elements, either a sequence of snap-ins followed by irreversible hysteretic - yet repeatable - self-recovery or multistability is achieved, enabling programmable behavior. Proof-of-principle experiments on three-dimensional polymer microstructures are presented.