GYNAECOLOGY - IVF

Whole Genome Sequencing (WGS) has emerged as a vital tool in prenatal genetic diagnosis, especially in cases of fetal structural anomalies. In a study with 17 families, diagnostic yield reached 11.8% as WGS successfully identified causative genetic variants that standard tests missed. Notably, the study revealed the first prenatal case of FGF8-related holoprosencephaly and facial deformities. These findings demonstrate WGS's clinical value in diagnosing the underlying causes of structural abnormalities in fetuses and contribute to an expanded understanding of genetic disorders.

Prenatal Genetic Diagnosis Advancements: Unveiling Structural Anomalies with Whole Genome Sequencing (WGS)

GASTROENTEROLOGY

Combined EUS and endoscopic therapy reduced rebleeding and reintervention in gastric variceal bleeding.

Combined EUS and Endoscopic Therapy May Reduce Gastric Variceal Rebleeding

A multicenter study of 141 cirrhotic patients with acute GOV2 or IGV1 gastric variceal bleeding found that adding conventional endoscopic injection to EUS-guided cyanoacrylate therapy reduced rebleeding (7.14% vs. 25.00%) and reintervention (12.50% vs. 35.71%), without increasing adverse events. Prospective trials are needed to confirm these findings.

EoE prevalence reached 1.9% in patients with type-2 diseases or IBD, suggesting the condition may be underrecognized.

Eosinophilic Esophagitis May Be Underrecognized in Type-2 Diseases

A multicenter study of 687 patients with type-2 inflammatory diseases or IBD found relevant dysphagia in 8.9% and identified 6 new cases of eosinophilic esophagitis. Overall EoE prevalence was 1.9%, rising to 2.7% among patients with type-2 inflammatory diseases, suggesting EoE may be underrecognized in these populations.

ONCOLOGY

AJCC Version 9 updates vulvar cancer staging with revised T, N and M categories and a new depth-of-invasion method.

AJCC Version 9 Updates TNM Staging for Vulvar Cancer

The AJCC has released its Version 9 TNM staging protocol for vulvar carcinoma, validated using the American College of Surgeons’ National Cancer Data Base and aligned with 2021 FIGO staging. Key changes include a new depth-of-invasion measurement, addition of T4, revised N categories, and expanded M categories with clinical classifications.

ENDO-DIABETOLOGY

Convenience-store interventions may improve healthy food choices, with multicomponent strategies showing the greatest promise.

Healthy Convenience Store Strategies May Improve Food Choices

A systematic review of 28 studies from high-income countries found that convenience-store interventions could improve healthy food purchasing and consumption, particularly fruits and vegetables. Multicomponent strategies combining healthier availability, product positioning, pricing and signage appeared most effective, although varying study quality and risk of bias limit the certainty of the findings.

p16-guided reduced-volume radiation showed favorable disease control and survival in head and neck cancer of unknown primary.

p16-Guided Radiation May Safely Reduce HNCUP Treatment Volumes

A retrospective study of 126 patients with head and neck carcinoma of unknown primary found that p16-positive disease treated with reduced-volume radiation had favorable 5-year overall survival of 90.0%, versus 69.2% for p16-negative disease. All mucosal and neck recurrences remained within irradiated fields, supporting selective radiation de-intensification.

NEUROLOGY

A novel method using mechanical seal pressure may enable noninvasive estimation of LVEDP in heart failure.

Novel Method May Enable Noninvasive LVEDP Estimation

A novel approach may enable completely noninvasive estimation of left ventricular end-diastolic pressure (LVEDP) by measuring pressure within the mechanical seal of a rotary blood pump. In dynamic testing, seal openings occurred only during diastole, and mechanical seal opening pressure showed a strong correlation with LVEDP, suggesting potential for noninvasive HF monitoring.

Peritoneal tissue showed promise as an alternative heart valve scaffold, but long-term durability requires further study.

Peritoneal Tissue Shows Promise for Heart Valve Scaffolds

A preclinical study found that autologous peritoneal tissue could be treated and shaped into heart valve constructs with adequate acute hydrodynamic performance. Compared with pericardium, peritoneum had higher elastin content and distinct mechanical properties. The findings support further investigation, although long-term durability, cyclic loading, and tissue remodeling remain to be established.

Genetic factors influencing visceral fat and body composition may differ from those captured by BMI alone.

Genetic Drivers of Visceral Fat Differ From BMI-Defined Obesity

A GWAS of 14,121 adults found that visceral fat, fat mass, and fat-free mass were influenced by partly distinct genetic mechanisms that BMI alone may not capture. The TTN-rs794727539 variant was linked to lower visceral fat and higher fat-free mass independently of BMI, highlighting the value of detailed body composition measures.

IABP support was associated with lower whole blood viscosity at low shear rates after cardiopulmonary bypass.

IABP Support Linked to Lower Blood Viscosity After CPB

A prospective study of 80 patients undergoing cardiopulmonary bypass found that perioperative intra-aortic balloon pump (IABP) support was independently associated with lower whole blood viscosity at low shear rates after surgery. Viscosity was significantly lower with IABP at 0.6 and 1 s⁻¹, suggesting potential effects on hemorheology, microcirculatory flow and tissue perfusion.

DERMATOLOGY

Plant callus cultures may offer sustainable bioactive compounds with antioxidant and anti-aging skincare potential.

Plant Callus Cultures Show Potential for Anti-Aging Skincare

A review of research suggests plant callus cultures could provide sustainable sources of bioactive compounds for anti-aging skincare. Extracts from apple, rice, Centella asiatica and other plants have demonstrated antioxidant and anti-inflammatory activity, while in vitro studies reported increased keratinocyte proliferation, collagen synthesis and reduced elastase activity, supporting further cosmeceutical research.

Topical green tea extract may improve skin elasticity and wrinkles, but evidence remains limited and more studies are needed.

Green Tea Extract May Improve Facial Skin Aging

A systematic review of 7 controlled studies found that topical green tea extract containing EGCG may improve signs of facial photoaging. All 5 studies assessing skin elasticity reported improvement, while 4 of 5 found fewer fine-line wrinkles. Benefits were also reported for skin tone, texture, radiance and firmness, but evidence remains limited.

Hearing aids may distort loudness and timbre perception, potentially making some everyday sounds unusually intrusive.

Hearing Aids May Alter Loudness and Timbre Perception

A study found that people with hearing loss using hearing aids showed steeper loudness growth and altered timbre perception compared with normal-hearing listeners. Hearing aids appeared to emphasize temporal sound features and distort the perception of roughness, potentially making some everyday sounds unusually intrusive or salient. Further research is needed to confirm this link.

Social participation strongly predicted quality of life in people with aphasia, highlighting its role in rehabilitation.

Social Participation Predicts Quality of Life in Aphasia

A study of 35 people with aphasia found low overall quality of life, with social relationships most affected. Participation was the strongest correlate of both overall quality of life and social relationships, accounting for 54% of quality-of-life variance. The findings support rehabilitation approaches that address social participation and emotional well-being alongside language recovery.

PSYCHIATRY

Reducing parenting stress may help improve emotion regulation in autistic preschoolers during the postdiagnostic period.

Reducing Parenting Stress May Improve Emotion Regulation in Autism

A randomized trial of 117 autistic preschoolers found that parent-reported child emotion dysregulation and observed parent-child dyadic dysregulation decreased following parenting stress-reduction interventions. Lower parenting stress predicted greater reductions in reported dysregulation, suggesting that supporting parents during the postdiagnostic period may offer important benefits for children's emotional regulation.

FAMILY HEALTH

DOAC therapy reduced stroke and cardiovascular events in atrial fibrillation patients at intermediate stroke risk.

DOACs Reduce Stroke Risk in Intermediate-Risk Atrial Fibrillation

A multicenter randomized trial of 1,803 patients with atrial fibrillation and intermediate stroke risk found that DOAC therapy reduced the 24-month composite of stroke, systemic embolism, major bleeding or cardiovascular death versus no anticoagulation (0.5% vs. 1.5%; HR 0.31). Stroke occurred in 0.3% vs. 1.1%, with similar major bleeding rates.

Whole genome sequencing a...

Whole genome sequencing analysis in fetal structural anomalies