BATokines in metabolic liver disease: good cops or bad cops?

The systemic regulation of metabolic dysfunction-associated liver disease remains poorly understood. In this issue, Hsiao et al (2024) identify PCPE-1 as a brown-adipose tissue-derived mediator of hepatic fibrosis, integrating context-dependent ER stress-signaling.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Purpose: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in single case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.

Methods: Clinical and genomic investigations of 30 individuals were undertaken alongside molecular and in silico modelling and translation reinitiation studies.

A secondary β-hydroxybutyrate metabolic pathway linked to energy balance.

β-hydroxybutyrate (BHB) is an abundant ketone body. To date, all known pathways of BHB metabolism involve interconversion of BHB and primary energy intermediates. Here we show that CNDP2 controls a previously undescribed secondary BHB metabolic pathway via enzymatic conjugation of BHB and free amino acids.

The mitochondrial dicarboxylate carrier mediates in vivo hepatic gluconeogenesis.

Hepatic gluconeogenesis (GNG) is essential for maintaining euglycemia during prolonged fasting. However, GNG becomes pathologically elevated and drives chronic hyperglycemia in type 2 diabetes (T2D). Lactate/pyruvate is a major GNG substrate known to be imported into mitochondria for GNG.

Individual-level determinants of breast and cervical cancer screening and early testing in two regionally representative urban Indian populations.

Introduction: Region-specific data on individual factors associated with uptake of breast and cervical cancer screening or early testing in diverse Indian populations are limited.

Aim: To assess the prevalence and individual determinants of uptake of breast and/or cervical cancer screening or testing among women aged 30-69 years in regionally representative populations of two large Indian cities: New Delhi and Chennai.

Methods: We conducted an analysis of the cross-sectional data (2016-2017) nested within the Centre for Cardiometabolic Risk Reduction in South Asia cohort, established in 2010-2011 with 12,271 participants (5365 in New Delhi; 6906 in Chennai).

Pheochromocytoma/Paraganglioma Syndrome Type 1 Presenting with Atypical Symptoms and a Novel Pathogenic Variant in the Gene: A Case Report.

This case report presents a 10-year-old patient diagnosed with pheochromocytoma/paraganglioma syndrome type 1 (PPGL1), underlined by a novel heterozygous pathogenic variant (c.154_161del, p.ser52Profster14) in the gene.

Association of Patient and Geographic Variables in Pediatric Patients With Prediabetes Becoming Lost to Follow-up.

Introduction: Prediabetes (PD) is becoming more common, and management is complicated by high rates of loss to follow-up. We evaluated variables associated with lost to follow-up status for pediatric patients with PD referred to endocrinology for evaluation and management.

Methods: We evaluated new patients referred to Children's of Alabama Endocrinology for PD from March 2017 through March 2021.

Psychosocial outcomes with the Omnipod® 5 Automated Insulin Delivery System in caregivers of very young children with type 1 diabetes.

Aim: Automated insulin delivery (AID) systems have demonstrated improved glycaemic outcomes in people with type 1 diabetes (T1D), yet limited data exist on these systems in very young children and their impact on caregivers. We evaluated psychosocial outcomes following use of the tubeless Omnipod® 5 AID System in caregivers of very young children.

Materials And Methods: This 3-month single-arm, multicentre, pivotal clinical trial enrolled 80 children aged 2.

Risk of New-Onset Diabetes Before and During the COVID-19 Pandemic: A Real-World Cohort Study.

Background: Studies of new-onset diabetes as a post-acute sequela of SARS-CoV-2 infection are difficult to generalize to all socio-demographic subgroups.

Objective: To study the risk of new-onset diabetes after SARS-CoV-2 infection in a socio-demographically diverse sample.

Design: Retrospective cohort study of electronic health record (EHR) data available from the OneFlorida + clinical research network within the National Patient-Centered Clinical Research Network (PCORnet).

A systematic review and meta-analysis of the association of all types of beverages high in fructose with asthma in children and adolescents.

Background: Asthma has become the most common chronic condition among children in recent decades. Environmental factors, including food, drive its rise. Sweetened beverages are a staple of children's diets and cause various health issues.

Preventing Site-Specific Calpain Proteolysis of Junctophilin-2 Protects Against Stress-Induced Excitation-Contraction Uncoupling and Heart Failure Development.

Background: Excitation-contraction (E-C) coupling processes become disrupted in heart failure (HF), resulting in abnormal Ca homeostasis, maladaptive structural and transcriptional remodeling, and cardiac dysfunction. Junctophilin-2 (JP2) is an essential component of the E-C coupling apparatus but becomes site-specifically cleaved by calpain, leading to disruption of E-C coupling, plasmalemmal transverse tubule degeneration, abnormal Ca homeostasis, and HF. However, it is not clear whether preventing site-specific calpain cleavage of JP2 is sufficient to protect the heart against stress-induced pathological cardiac remodeling in vivo.

Assessment of the Carpal Tunnel Syndrome in Female Patients With Hypothyroidism.

Introduction: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy. There are several factors that influence the severity of CTS. The purpose of this study was to explore the severity of CTS in hypothyroid patients.

Risk factors for atherosclerotic cardiovascular disease (ASCVD) in healthcare professionals of Azar Cohort Study: A cross-sectional Study.

Background: Atherosclerotic cardiovascular disease (ASCVD) is considered a worldwide health problem associated with high morbidity, mortality, and cost of care. In the present study, we examined risk-enhancing factors for ASCVD in healthcare workers of the AZAR cohort population.

Methods: Data from a total of 500 participants were used for this cross-sectional study.

Dph4 is an Hsp70 Cochaperone with Iron-Binding Properties.

J-domain proteins (JDPs) are obligate cochaperones of Hsp70s with a wide range of functions in protein homeostasis. Although the J-domain is required for the stimulation of Hsp70s ATPase activity, the functional specificity of JDPs is governed by domains or regions other than the J-domain. Jjj3/Dph4, a class III JDP, is required for diphthamide (DPH) biosynthesis in eukaryotes, including yeast and mammals.

Associations between income/employment status and diabetes care processes, health behaviors, and health outcomes in Japan: A cross-sectional study using claims data linked to a questionnaire survey.

Aims/introduction: We aimed to explore the associations between income/employment status and diabetes care processes, health behaviors and health outcomes.

Materials And Methods: This cross-sectional study used health insurance claims data between April 2021 and March 2022, and a questionnaire survey between December 2022 and January 2023 in Tsukuba City. The study analyzed the participants with diabetes (other than type 1) from those selected by stratified random sampling.