CARDIOLOGY

Rare sequence variation in genes underlying cardiac repolarization and common polygenic variation influence QT interval duration. However, current clinical genetic testing of individuals with unexplained QT prolongation is restricted to examination of rare monogenic variants. The recent emergence of large-scale biorepositories with sequence data enables analysis of the joint contribution of rare and standard variations to the QT interval in the population. GWAS identified Fifty-four independent loci in the UKB. Twenty-one loci were novel, of which 12 were replicated in TOPMed. QTc duration in the population is influenced by both rare variants in genes underlying cardiac repolarization and polygenic risk, with a sizeable contribution from polygenic risk. Comprehensive assessment of the genetic determinants of QTc prolongation includes the incorporation of both polygenic and monogenic risk.

Genetic Determinants of QT Interval Prolongation: Unveiling the Influence of Rare and Common Variants in Cardiac Repolarization Genes

NEUROLOGY

Fetal myocardial performance index at 20–24 weeks did not predict subsequent fetal growth restriction in low-risk pregnancies.

Fetal MPI Does Not Predict Fetal Growth Restriction in Low-Risk Pregnancies

A prospective cohort study of 303 low-risk singleton pregnancies found that fetal myocardial performance index (MPI) measured at 20–24 weeks of gestation did not significantly differ between fetuses who later developed fetal growth restriction (FGR) and controls. The findings suggest that early second-trimester MPI may not be a useful predictor of subsequent FGR in low-risk pregnancies.

GYNAECOLOGY - IVF

Frequent cannabis use during early pregnancy was associated with an increased incidence of preterm birth in a cohort study.

Early Pregnancy Cannabis Use Linked to Higher Risk of Preterm Birth

An analysis of 6,838 couples from a prospective preconception cohort found that cannabis use before conception was not appreciably associated with preterm birth. However, female cannabis use at least once per week during early pregnancy was associated with a higher incidence of preterm birth. Cannabis use by either partner was not associated with small- or large-for-gestational-age birth.

PEDIATRICS

Chronic Pseudomonas infection was associated with more pulmonary exacerbations in people with primary ciliary dyskinesia.

Chronic Pseudomonas Infection Raises Exacerbation Risk in PCD

A single-center retrospective study of 32 people with primary ciliary dyskinesia (PCD) found that chronic airway infection with Pseudomonas aeruginosa was associated with a significantly higher rate of pulmonary exacerbations. Chronic Aspergillus fumigatus infection was associated with lower lung function, while other chronic infections were not significantly linked to lung function decline.

A systematic review found widespread autonomic dysfunction across cardiovascular, vascular, thermoregulatory, and other domains in RLS.

Restless Legs Syndrome Linked to Multidomain Autonomic Dysfunction

A systematic review of 41 studies involving 1,895 patients with restless legs syndrome (RLS) and 1,934 controls found evidence of multidomain autonomic nervous system dysfunction. Cardiovascular, endothelial, thermoregulatory, gastrointestinal, genitourinary, and sexual disturbances were reported, suggesting that RLS may have broader systemic effects beyond its traditional sensorimotor and sleep-related manifestations.

Adjuvant ICI therapy showed preserved overall survival but frequent early recurrence in resected sinonasal mucosal melanoma.

Adjuvant ICI Therapy in Sinonasal Melanoma: Survival and Recurrence Outcomes

A retrospective study of 11 patients with resectable N0M0 sinonasal mucosal melanoma treated with curative-intent endoscopic resection followed by adjuvant immune checkpoint inhibitor therapy found preserved overall survival but frequent early recurrence. Three-year overall survival was 90%, while recurrence-free survival fell to 0%; grade ≥3 immune-related adverse events occurred in 27.3%.

CMC gel achieved immediate resolution of periprosthetic TEP leakage in 95% of injections with minimal adverse events.

Carboxymethylcellulose Gel Shows Promise for TEP Leakage Management

A retrospective study of six postlaryngectomy patients evaluated carboxymethylcellulose (CMC) gel injections for peripheral leakage around tracheoesophageal puncture (TEP) voice prostheses. Of 38 injections, 95% achieved immediate leak resolution. Repeat injections were required in 67% of patients, while adverse events were minimal, supporting CMC gel as a potential option for managing periprosthetic leakage.

Neoadjuvant tislelizumab plus cetuximab showed encouraging response and safety in locally advanced oral cancer.

Tislelizumab Plus Cetuximab Shows Promise in Locally Advanced OSCC

A prospective pilot trial evaluated chemotherapy-free neoadjuvant tislelizumab plus cetuximab in 15 patients with locally advanced oral squamous cell carcinoma who were medically unsuitable for conventional chemotherapy. The objective response rate was 73.3%, while five of 12 surgically treated patients achieved a major pathological response, including two pathological complete responses.

Dapagliflozin improved quality-of-life measures over 12 months in patients with HFrEF in routine clinical practice.

Dapagliflozin Improves Quality of Life in HFrEF Patients

A 12-month multicenter observational study of 257 patients with heart failure with reduced ejection fraction (HFrEF) found significant improvements across all KCCQ-23 quality-of-life scores following initiation of dapagliflozin. The treatment was generally safe and well tolerated, although patients aged over 65 years, with prior myocardial infarction, or recent hospitalization showed a diminished response.

ENDO-DIABETOLOGY

Long-term obesity was associated with accelerated brain aging, with stronger effects in males and genetically susceptible individuals.

Long-Term Obesity Linked to Accelerated Brain Aging

An analysis of 35,092 UK Biobank participants found that long-term obesity trajectories and genetic susceptibility were associated with accelerated brain aging. A high-stable obesity trajectory showed a stronger association in males than females, while the combination of high genetic risk and persistent obesity further increased risk. Transitioning from obesity to non-obesity was associated with lower risk.

GASTROENTEROLOGY

Low muscle mass was associated with postoperative complications and endoscopic recurrence after Crohn’s disease surgery.

Low Muscle Mass Predicts Complications and Recurrence in Crohn’s Disease

A retrospective study of 152 patients with Crohn’s disease undergoing ileocolic resection found that 40.1% had low muscle mass based on preoperative imaging. Low muscle mass was independently associated with higher risks of postoperative complications and endoscopic disease recurrence within 6–12 months, suggesting that imaging-based muscle assessment may improve perioperative risk stratification.

A review found 143 unique MCI treatment outcomes, highlighting major reporting variation and the need for a core outcome set.

MCI Studies Show Major Variation in Treatment Outcome Reporting

An umbrella review of 153 studies involving adults with mild cognitive impairment (MCI) identified 143 unique treatment outcomes. Global cognition was the only outcome reported in more than half of studies, while two-thirds of outcomes appeared in three or fewer studies. The substantial heterogeneity in outcome reporting may limit evidence synthesis and treatment evaluation.

OPHTHALMOLOGY

Varenicline nasal spray significantly improved dry eye symptoms and ocular surface signs after 28 days of treatment.

Varenicline Nasal Spray Improves Dry Eye Disease Symptoms and Signs

A prospective placebo-controlled study of 50 patients with dry eye disease found that twice-daily varenicline nasal spray significantly improved symptoms and ocular surface staining after 28 days compared with vehicle. Improvements were greater in dry eye questionnaire and dryness scores, as well as corneal and conjunctival staining. No serious adverse events were reported.

VKC and donor factors were associated with prolonged corneal epithelial healing after keratoplasty in a retrospective study.

Risk Factors Linked to Delayed Epithelial Healing After Keratoplasty

A retrospective study of 146 eyes with delayed epithelialization after keratoplasty identified three independent factors associated with prolonged healing: recipient vernal keratoconjunctivitis (VKC), female donor sex, and donor history of chemotherapy or radiotherapy. Healing became progressively slower as risk factors accumulated, with median closure times increasing from approximately 10 to 16 days.

A monofocal aspheric hydrophobic acrylic IOL improved visual acuity and maintained stable clinical outcomes through 12 months.

Monofocal Aspheric IOL Shows Favorable 12-Month Cataract Outcomes

A prospective feasibility study of 30 patients evaluated a preloaded monofocal aspheric hydrophobic acrylic intraocular lens after cataract surgery. At 12 months, corrected distance visual acuity improved substantially, while intraocular pressure remained stable. Most eyes had no or minimal posterior capsule opacification, and no clinically detectable IOL tilt, decentration, or discoloration was observed.

NGS improved detection of malignant biliary strictures, with combined NGS and histopathology achieving 78% sensitivity.

NGS Improves Diagnostic Accuracy for Malignant Biliary Strictures

A real-world study found that next-generation sequencing (NGS) of endoscopic biopsies improved the detection of malignant biliary strictures compared with histopathology alone. NGS showed higher sensitivity for malignancy (65% vs. 52%) at similar specificity. Combining NGS with histopathology further increased sensitivity to 78%, supporting its potential role in routine diagnostic evaluation.

Monogenic and Polygenic C...

Monogenic and Polygenic Contributions to QTc Prolongation in the Population