DERMATOLOGY

This study shows that gain‐of‐function variants in KLHL24 causing EBS and DCM, do not only originate in the start‐codon and suggest that any nonsense‐inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.

KLHL24 Gain-of-Function Variants in EBS and DCM: Impact Beyond Start-Codon Mutations

UROLOGY

Study finds 7.86% lead migration after sacral neuromodulation, with higher odds observed for Axonics devices.

Sacral Neuromodulation Lead Migration: Risk Factors and Outcomes

A retrospective study of 445 patients undergoing sacral neuromodulation found confirmed lead migration in 7.86% of cases, occurring mainly in the forward direction. Migration had a median onset of 16 months and led to revision or device removal in 82.9% of affected patients. Axonics devices showed higher adjusted odds of migration than Medtronic devices, although the finding remains hypothesis-generating.

GYNAECOLOGY - IVF

Study finds no sustained increase in offspring GI morbidity following exposure to maternal chronic hypertension.

Maternal Chronic Hypertension and Offspring GI Health

A 30-year population-based cohort study of 342,635 singleton deliveries found no evidence that maternal chronic hypertension independently increased gastrointestinal morbidity in offspring through age 18. GI risk was lower among exposed children during early childhood, while rates were similar by late adolescence, suggesting a time-varying association rather than sustained excess risk.

CARDIOLOGY

Study identifies FGFR1/KLB-MFG-E8 signaling as a potential mechanism protecting diabetic hearts from vascular and cardiac dysfunction.

FGFR1/KLB Pathway May Protect Diabetic Hearts

A study in diabetic mice and human heart tissue identified an FGFR1/KLB pathway in cardiomyocytes that supports myocardial capillary health through MFG-E8 signaling. Loss of FGFR1 or KLB reduced capillary density and worsened cardiac remodeling, while enhancing MFG-E8 restored vascularity and improved cardiac function, with stronger effects observed in males.

Study finds observed links between gestational age and neurodevelopment may partly reflect underlying prenatal factors.

Gestational Age and Neurodevelopmental Disability Risk

A Norwegian cohort study of 2.9 million births found substantially higher observed risks of cerebral palsy, intellectual impairment, epilepsy, autism and ADHD after very preterm birth. However, sibling-matched analyses showed attenuated associations, while similar patterns for birth defects suggested that underlying prenatal factors may explain part of the observed relationship.

SEER study links nephrectomy delays beyond 3 months with higher cancer-specific mortality in selected RCC patients.

Delayed Surgery and Mortality in Renal Cell Carcinoma

A SEER database study of 16,322 patients with pT1b–2N0M0 renal cell carcinoma found that delaying nephrectomy beyond 3 months was associated with higher cancer-specific mortality. After propensity matching, 60-month mortality was 7.6% versus 5.9%, with risk increasing further when surgery was delayed beyond 6 months. The association was not seen in non-clear cell RCC.

Study finds parental and socioeconomic factors largely explain differences in school performance among ART-conceived children.

ART Conception and School Performance in Children

A Norwegian cohort study of 929,017 children found higher school grades among ART-conceived children than spontaneously conceived peers in unadjusted analyses, particularly among those with less-educated mothers. After adjusting for parental and family characteristics, differences were small and slightly negative in both education groups, suggesting socio-demographic selection largely explains the observed advantage.

NEUROLOGY

A new APOE genetic profile showed stronger links to cognitive decline than APOE ε4 in Hispanic/Latino adults.

APOE Profile Linked to Cognitive Decline in Hispanic/Latino Adults

A study of 13,025 Hispanic/Latino adults identified three APOE genetic clusters. Compared with Cluster 1, Cluster 3 was associated with a higher likelihood of significant age-adjusted cognitive decline (OR 1.47; 95% CI 1.18–1.84), while the conventional APOE ε4 allele showed no significant association. The findings suggest the new APOE profile may improve risk assessment in this population.

ORTHOPAEDICS

Interportal and T-capsulotomy showed similar 2-year outcomes and reoperation-free survival after hip arthroscopy.

Interportal vs T-Capsulotomy Outcomes After Hip Arthroscopy

A cohort study of 258 patients found comparable 2-year outcomes after interportal and T-capsulotomy during hip arthroscopy when capsular closure was performed. Rates of clinically meaningful improvement and reoperation-free survival were similar, with 98% survival in both groups. The findings suggest either technique may provide comparable outcomes when additional visualization from T-capsulotomy is not required.

Women with HDP showed persistent cardiovascular abnormalities during the first year postpartum, supporting extended surveillance.

Postpartum Cardiovascular Risk After Preeclampsia and HDP

A prospective study of 201 Chinese women found that those at high risk for preeclampsia who developed hypertensive disorders of pregnancy had persistent cardiovascular abnormalities during the first year postpartum, including higher blood pressure, LV mass and vascular resistance. Improvements were delayed compared with high-risk women without HDP, supporting longer-term postpartum cardiovascular surveillance.

PULMONOLOGY

COPD was associated with higher risks of falls and osteoporosis, with effects influenced by smoking status and sex.

COPD Associated With Higher Risks of Falls and Osteoporosis

A UK Biobank study of 474,669 adults found that COPD was associated with significantly higher risks of falls and osteoporosis over 12.1 years of follow-up. COPD was linked to a 51% higher risk of falls and 137% higher risk of osteoporosis. Smoking status modified the association with falls, while sex modified the osteoporosis association.

DENTISTRY

Poor sleep was associated with higher odds of periodontal disease, but evidence certainty was very low.

Poor Sleep Linked to Higher Risk of Periodontal Disease

A meta-analysis of 14 studies involving 126,425 participants found that adverse sleep characteristics, including poor sleep quality and shorter sleep duration, were associated with higher odds of periodontal disease. The pooled analysis showed 25% greater odds of periodontal disease, with a stronger association for severe periodontitis. However, evidence certainty was very low.

Psoriasis and psoriatic arthritis with periodontitis were linked to higher periodontal pathogens and inflammatory biomarkers.

Psoriasis, Psoriatic Arthritis and Periodontitis: New Findings

A case-control study of 192 non-smokers and non-diabetics found higher levels of key periodontal pathogens and inflammatory biomarkers in people with psoriasis or psoriatic arthritis, particularly when periodontitis was present. Psoriatic arthritis with periodontitis showed increased IL-17, survivin and OPG, supporting closer collaboration between dermatology and periodontal care.

Root canal infections shared a core microbiome, with modest geographic differences across Spain, Sweden, and the USA.

Geographic Differences in the Root Canal Microbiome

A comparative analysis of root canal microbiomes from Spain, Sweden, and the USA found a shared core microbial community alongside modest population-specific differences. Although microbial richness and composition varied between cohorts, geographic location explained only 6.8% of community variation. Larger, balanced studies are needed to determine the clinical relevance of these microbial signatures.

An AI framework classified root canal curvature from periapical radiographs with 89.6% accuracy, supporting screening for 3D evaluation.

AI-Based Root Canal Curvature Detection Using Dental X-Rays

A machine learning framework using periapical radiographs was developed to detect, segment and classify root canal curvature in mandibular premolars. In 1,644 radiographs, the hybrid geometric and deep-learning model achieved 89.6% accuracy and an F1-score of 86.77%. The authors suggest its use as a screening aid to identify canals requiring three-dimensional evaluation.

CRITICAL CARE

Chest CT identified new findings in 56.4% of ICU scans and changed clinical management in 30.9% of cases.

Chest CT Improves Diagnosis in Critically Ill ICU Patients

A retrospective study of 45 critically ill ICU patients undergoing 55 chest CT scans for acute respiratory failure found that CT identified new diagnostic findings in 56.4% of scans compared with chest X-ray. These additional findings led to changes in clinical management in 30.9% of cases, most commonly involving invasive interventions.

A translation re‐initiati...

A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation