Severity of Pediatric Inflammatory Multisystem Syndrome Temporally Associated with SARS-CoV-2 Diminished During Successive Waves of the COVID-19 Pandemic: Data from a Nationwide German Survey.

Objective: To elucidate how the clinical presentation of Pediatric Inflammatory Multisystem Syndrome temporally associated with Severe Acute Respiratory Syndrome-related Coronavirus 2 (PIMS-TS) was influenced by the successive variants of concern (VOC) and patient age.

Study Design: A nationwide PIMS-TS registry was established in Germany in May 2020, shortly after the first cases were described in the US and United Kingdom. The registry captured information on patient characteristics, clinical course, laboratory findings, imaging, and outcome.

Direct LDL-C estimation in preschoolers: Practicable first step for FH screening.

Background: Individuals with FH develop cardiovascular disease due to lifelong cumulative exposure to elevated LDL-C. Effective screening for FH is not yet established.

Objective: To evaluate the practicability of a FH screening by measuring directly the LDL-C in preschoolers.

Universal screening for familial hypercholesterolemia in 2 populations.

Purpose: In Europe, >2 million individuals with familial hypercholesterolemia (FH) are currently undiagnosed. Effective screening strategies for FH diagnosis in childhood are urgently needed. We assessed the overall performances of 2 different FH screening programs in children: universal screening program with opt-out and opt-in type participation.

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Genetic variants in the adenosine triphosphate-binding cassette subfamily B member 4 () gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid-associated cholelithiasis, and intrahepatic cholestasis of pregnancy. The aim of this multicenter project was to collect information on onset and progression of this entity in different age groups and to assess the relevance of this disease for the differential diagnosis of chronic liver disease. Clinical and laboratory data of 38 patients (17 males, 21 females, from 29 families) with homozygous or (compound) heterozygous mutations were retrospectively collected.

IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective T cell engraftment.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inherited disorder leading to severe organ-specific autoimmunity. IPEX is caused by hemizygous mutations in FOXP3, which codes for a master transcription factor of regulatory T (T) cell development and function. We describe a four-year-old boy with typical but slightly delayed-onset of IPEX with autoimmune diabetes mellitus, enteropathy, hepatitis and skin disease.

The EHEC-host interactome reveals novel targets for the translocated intimin receptor.

Enterohemorrhagic E. coli (EHEC) manipulate their human host through at least 39 effector proteins which hijack host processes through direct protein-protein interactions (PPIs). To identify their protein targets in the host cells, we performed yeast two-hybrid screens, allowing us to find 48 high-confidence protein-protein interactions between 15 EHEC effectors and 47 human host proteins.

Rac function is crucial for cell migration but is not required for spreading and focal adhesion formation.

Cell migration is commonly accompanied by protrusion of membrane ruffles and lamellipodia. In two-dimensional migration, protrusion of these thin sheets of cytoplasm is considered relevant to both exploration of new space and initiation of nascent adhesion to the substratum. Lamellipodium formation can be potently stimulated by Rho GTPases of the Rac subfamily, but also by RhoG or Cdc42.

GSTP1 and MDR1 genotypes and central nervous system relapse in childhood acute lymphoblastic leukemia.

The probability of event-free survival of childhood acute lymphoblastic leukemia (ALL) approaches 80% or more with the use of modern multiagent chemotherapeutic regimens. One major contribution to this success has been reduction of the rate of central nervous system (CNS) relapses to less than 5%. However, heterogeneity is observed with regard to the incidence of CNS relapse in homogenously treated patient populations.