ANDROLOGY

Exploring benefits and challenges of expanded carrier screening in reproductive medicine and gamete donation.

Expanded Carrier Screening in Reproductive Medicine

Carrier screening in reproductive medicine identifies DNA variants linked to recessive genetic diseases, helping couples assess the risk of passing these conditions to offspring. Expanded carrier screening, using advanced genotyping technologies, tests for multiple conditions simultaneously. This method, especially useful in gamete donation, raises issues of privacy, counseling, and ethical concerns. Proponents argue it ensures offspring health and psychological reassurance, while opponents highlight potential psychological distress, financial burden, and ethical issues.

UROLOGY

Low tumor ADC on MRI was linked to higher distant metastasis risk in intermediate-risk prostate cancer over 10 years.

Tumor ADC on MRI May Predict Prostate Cancer Metastasis Risk

A 10-year retrospective study of 238 men with intermediate-risk prostate cancer found that lower pretreatment tumor ADC on multiparametric MRI was associated with worse long-term outcomes. Patients with ADC ≤0.668 × 10⁻³ mm²/s had nearly four times higher risk of distant metastasis, suggesting ADC may provide additional prognostic information beyond standard clinical risk classification.

Testosterone increases during enzalutamide monotherapy were not directly associated with gynaecomastia in recurrent prostate cancer.

Enzalutamide-Related Testosterone Rise Not Linked to Gynaecomastia

A prospective study of 38 men with biochemically recurrent prostate cancer found that intermittent enzalutamide monotherapy increased serum testosterone by a median 63%, reaching 832.5 ng/dL. Gynaecomastia symptoms occurred in 42% of patients, but neither peak testosterone levels nor the duration of testosterone elevation was associated with its development.

NEUROLOGY

Higher estradiol was associated with lower CSF tau levels, particularly in APOE ε4 carriers, in an Alzheimer’s cohort.

Estradiol Linked to Lower Tau Biomarkers in Alzheimer’s Disease

An analysis of 854 women from the European Prevention of Alzheimer’s Dementia cohort found that higher serum estradiol was associated with lower baseline tau levels in cerebrospinal fluid, particularly among APOE ε4 carriers. Estradiol was not associated with amyloid-beta 42, while estrone showed a modest association with slower pTau181 increases in exploratory longitudinal analyses.

Worse hearing was associated with higher amyloid burden across several brain regions on PET imaging.

Hearing Loss Linked to Higher Brain Amyloid Burden

Worse hearing was associated with greater cerebral amyloid deposition on PET imaging in 223 adults aged about 66 years. A 10-dB worsening in hearing was linked to higher amyloid in the left temporal region, while poorer word recognition was associated with higher amyloid across several temporal, parietal, cingulate, frontal, and global regions.

DERMATOLOGY

A review proposes a multidimensional framework to identify and monitor progression in hidradenitis suppurativa.

New Framework Proposed to Assess Hidradenitis Suppurativa Progression

A review proposes a multidimensional framework for assessing hidradenitis suppurativa (HS) progression across disease severity, anatomical spread and cumulative disease burden. Longitudinal studies suggest progression varies by care setting, with tertiary cohorts reporting approximately 37% progression over 2 years. Early-onset disease, smoking, inflammatory bowel disease and pilonidal sinus were among the most consistent risk factors.

PEDIATRICS

A Colombian nationwide study reports chILD prevalence of 3.32 per 100,000 children and rising annual case rates.

chILD Prevalence and Trends in Colombia: Nationwide Study

A nationwide Colombian study identified 4,608 healthcare encounters related to childhood interstitial and diffuse lung disease (chILD) from 2016–2024. Average annual prevalence was 3.32 per 100,000 children, highest among infants and with a secondary rise during adolescence. Reported cases increased annually (IRR 1.022), while declining markedly during the COVID-19 pandemic.

GYNAECOLOGY - IVF

Ultrasound radiomics showed limited added value over conventional ultrasound for distinguishing HGSC from LGSC.

Ultrasound Radiomics for Serous Ovarian Cancer Diagnosis

A retrospective pilot study of 153 patients found that ultrasound radiomics features could distinguish high-grade serous ovarian carcinoma (HGSC) from invasive low-grade serous carcinoma (LGSC), but offered limited improvement over conventional ultrasound. The clinical–radiomics model achieved an optimism-corrected ROC-AUC of 0.80, compared with 0.78 for ultrasound alone.

RHEUMATOLOGY

Social network patterns may influence health behaviors and inform peer-led interventions for Black individuals with rheumatic conditions.

Social Networks and Health Behaviors in Rheumatic Conditions

A study mapping the social networks of 40 Black individuals with rheumatic conditions in Boston and Chicago found that smoking and drinking behaviors clustered within networks. Differences in network structure, family connections, and diversity may influence how health information and behaviors spread, potentially informing future community-based, peer-led interventions.

MotionWatch 8 provided useful sleep estimates but showed wide variability and cannot replace polysomnography.

Actigraphy vs Polysomnography for Sleep Assessment

A tertiary sleep-centre study of 107 patients found that MotionWatch 8 actigraphy provided clinically useful group-level estimates of total sleep time but differed from polysomnography (PSG), with wide individual variability. Older age and periodic limb movements altered the magnitude of these differences, supporting actigraphy as a PSG adjunct rather than an interchangeable alternative.

Sequential genetic and ultrasound assessment may support individualized counseling after increased first-trimester nuchal translucency.

Nuchal Translucency and Prenatal Diagnostic Outcomes

A 12-year French cohort of 316 singleton pregnancies with first-trimester nuchal translucency (NT) ≥3.5 mm found that parental decisions and pregnancy outcomes varied with NT thickness. Among pregnancies continuing after normal genetic testing and structural ultrasound, 82.4% resulted in live birth without pathology at follow-up, highlighting the value of sequential assessment for individualized counseling.

Atopic dermatitis in pregnancy may modestly increase risks of hypertension, pre-eclampsia, low birth weight and neonatal infection.

Atopic Dermatitis in Pregnancy and Adverse Pregnancy Outcomes

A meta-analysis of 8 cohort studies involving 278,671 women with atopic dermatitis found modestly higher risks of premature rupture of membranes, low birth weight, gestational hypertension and pre-eclampsia/eclampsia. One study also reported increased neonatal Staphylococcal septicaemia, highlighting the need for closer maternal and neonatal monitoring.

A Dutch survey found strong support for AI in fetal ultrasound, but clinicians emphasized human oversight and limited workload reduction.

Clinicians Support AI in Fetal Ultrasound but Favor Human Oversight

A survey of 151 Dutch obstetric sonographers, midwives and gynecologists found that 87% support AI applications in fetal ultrasound, while 86% want clinicians to retain final decision-making authority. Although 70% expect improved anomaly detection, only 39% anticipate reduced workload, highlighting both optimism and practical limitations.

ENDO-DIABETOLOGY

Fracture reporting varied across glucose-lowering drugs, with several Asian signals largely driven by Japan rather than broader Asian populations.

Fracture Reporting Patterns Across Glucose-Lowering Drugs

An analysis of more than 16.5 million FAERS and JADER reports found substantial differences in fracture reporting across nine glucose-lowering drug classes. Apparent increases for several drug classes in Asian reports were largely driven by Japan and did not persist in non-Japan Asia. No class showed statistically significant fracture disproportionality after false-discovery adjustment.

Regional fat-to-muscle ratios may improve osteoporosis risk assessment beyond BMI, with distinct associations by sex and body region.

Fat-to-Muscle Ratio Linked to Osteoporosis Risk

A UK Biobank study of 324,631 adults found that higher whole-body and arm fat-to-muscle ratios (FMR) were linked to greater osteoporosis risk, while leg FMR showed protective associations, particularly in men. Findings also varied by sex and body region, suggesting that regional FMR may provide additional insight into osteoporosis risk beyond BMI.

Incretin-based obesity therapy was not linked to increased suicide risk in adolescents and was associated with lower psychiatric risks.

GLP-1 Therapies and Psychiatric Risk in Adolescents

A retrospective study of 18,444 adolescents with overweight or obesity found that semaglutide, liraglutide, or tirzepatide was associated with lower risks of suicide-related events, suicidal ideation, and anxiety than lifestyle intervention. No significant differences were seen for suicide attempts, depression, insomnia, or eating disorders, although findings require cautious interpretation.

The assets and risks of e...

The assets and risks of expanded carrier screening in gamete donation