CARDIOLOGY

Deciphering hypoplastic left heart syndrome (HLHS) pathogenesis is confounded by its genetic heterogeneity and oligogenic underpinnings. Whole genome sequences were analyzed by three independent strategies to identify HLHS gene candidates, ranked by variant, gene, and disease-level metrics. The findings suggest that common and rare alleles within unconventional myosin genes are associated with HLHS susceptibility. The identified candidateMYO18Bregulates cardiac sarcomerogenesis, supporting the hypothesis of intrinsic myogenic perturbation in arrested left heart development.

Hypoplastic Left Heart Syndrome (HLHS) Genetic Pathogenesis Unveiled: Role of MYO18B in Cardiac Sarcomerogenesis

OPHTHALMOLOGY

Squint ASSIST accurately detects strabismus from eye photographs, supporting screening and telemedicine follow-up.

Squint ASSIST Shows High Accuracy in Strabismus Detection

A prospective study of 136 patients and 1,384 eye photographs found that Squint ASSIST, an image-based application, detected strabismus with up to 96.83% sensitivity and 95.59% accuracy. Measurements closely correlated with ophthalmologist assessments, supporting its use for screening, photographic documentation, and telemedicine, while specialists remain essential for precise surgical planning.

PULMONOLOGY

Oxidative stress may activate HIF-1α in macrophages, potentially promoting fibrosis in idiopathic pulmonary fibrosis.

ROS-HIF-1α Axis and Macrophages in Pulmonary Fibrosis

A review suggests that oxidative stress may stabilise HIF-1α in alveolar macrophages despite normal oxygen levels in idiopathic pulmonary fibrosis. ROS-HIF-1α crosstalk could reprogram macrophages toward profibrotic activity and impair lung homeostasis, linking environmental exposures to fibrosis progression and highlighting a potential pathway for future therapeutic research.

UROLOGY

Poor sleep, sleep apnea and nocturia are consistently associated with female lower urinary tract symptoms.

Sleep Health Linked to Female Lower Urinary Tract Symptoms

A systematic review of 28 studies found consistent links between poor sleep quality, obstructive sleep apnea and nocturia with female lower urinary tract symptoms. Women with overactive bladder or urinary incontinence also reported poorer sleep. Findings suggest sleep and urinary symptoms may influence each other, supporting consideration of sleep health in LUTS assessment.

Goldmann tonometry may overestimate pressure-independent uveoscleral outflow and alter interpretations of glaucoma drug effects.

Goldmann Tonometry May Bias Uveoscleral Outflow Estimates

A new analysis suggests that using Goldmann applanation tonometry to estimate intraocular pressure may substantially overstate pressure-independent uveoscleral outflow. With representative values, calculated uveoscleral flow fell from about 50% using GAT-derived pressure to 9% with manometric pressure, potentially affecting interpretations of prostaglandin effects in glaucoma.

Treating ocular-surface disease before cataract surgery may improve biometry and IOL power prediction accuracy.

Ocular Surface Optimization Before Cataract Surgery

A systematic review of 25 published studies found that treating ocular-surface problems such as dry eye, meibomian gland dysfunction and tear-film instability before cataract surgery may improve keratometric repeatability, IOL power prediction and refractive outcomes. However, study heterogeneity and limited randomized evidence prevent a definitive pooled treatment effect.

DENTISTRY

Combining virtual reality and extracted-teeth training improved dental students' confidence in endodontic access preparation.

Virtual Reality and Extracted Teeth Training in Endodontics

A prospective study of 86 fourth-year dental students found that combining haptic virtual reality simulation with extracted human teeth training significantly improved self-perceived competence in endodontic access cavity preparation. Competence scores rose from a median of 17 to 22, while 84.9% of students considered extracted-teeth training more effective than virtual simulation.

Toilet training timing did not predict 1-year treatment response in children with nocturnal enuresis.

Toilet Training Timing and Nocturnal Enuresis Outcomes

A retrospective study of 163 children with nocturnal enuresis found that the timing of toilet training was not significantly associated with complete treatment response at 1 year. Earlier completion was linked to less daytime incontinence, while constipation and daytime incontinence were associated with lower odds of complete response.

POP surgery resolved OAB symptoms in 58% of women, with higher resolution after anterior or apical repairs.

POP Surgery Improves Overactive Bladder Symptoms in Women

A meta-analysis of 24 studies involving 7,739 women found that pelvic organ prolapse surgery resolved preexisting overactive bladder symptoms in 58% of patients. Anterior or apical repairs achieved higher OAB resolution than isolated posterior repairs, at 75.8% versus 28.3%, while surgical approach and mesh use did not significantly affect outcomes.

Canephron N showed comparable efficacy to antibiotics for preventing recurrent uncomplicated UTIs in a 12-study analysis.

Canephron N for UTI Prevention: Efficacy and Safety

A systematic review and meta-analysis of 12 studies involving 3,821 patients found Canephron N was non-inferior to antibiotics for preventing recurrent uncomplicated UTIs. Six-month recurrence was 8.9% versus 17.8%, with comparable symptom relief and no significant difference in adverse events. The findings support its potential as an antibiotic-sparing option.

GYNAECOLOGY - IVF

Prenatal exome sequencing identified pathogenic variants in 31.6% of families with fetal structural anomalies.

Prenatal Exome Sequencing Shows 31.6% Diagnostic Yield

A prospective Australian multicentre cohort of 275 families found that trio prenatal exome sequencing identified pathogenic or likely pathogenic variants in 31.6% of fetuses with structural anomalies after an uninformative chromosome microarray. Variants of uncertain significance occurred in 4.4% and incidental findings in 1.5%, supporting pES as an important antenatal diagnostic tool.

NEUROLOGY

Smartphone cognitive testing showed strong links with clinic assessments but revealed important generational differences in performance.

Smartphone Cognitive Testing Shows Generational Differences

A study of 557 adults found that remote, high-frequency smartphone cognitive testing was feasible across age groups, with strong correlations to conventional in-clinic assessments. Older adults had higher adherence at 78% versus 59% in younger participants, while younger adults achieved greater reliability with fewer sessions and showed smaller practice effects.

Higher adiposity was associated with lower Alzheimer’s-related cognitive decline and pathology in older adults, with sex-specific patterns.

Higher Adiposity Linked to Lower Alzheimer’s Risk in Older Adults

A longitudinal analysis of 4,207 adults from HMACS and ADNI found that higher or increasing adiposity was associated with lower risk of AD-related MCI and dementia in adults ≥65 years. Biomarker analyses also showed lower p-tau217, NfL and amyloid or tau deposition in specific sex and age groups. However, observational findings do not support increasing body fat for dementia prevention.

Platelet-related genetic variation may modify aspirin’s effects on dementia risk, but findings require further validation.

Genetic Profile May Modify Aspirin’s Effect on Dementia Risk

An ASPREE trial analysis of 13,541 older adults found that platelet-related genetic profiles may modify aspirin’s effect on dementia. Among participants with the highest PGS003548 scores, aspirin was associated with a 72% lower incidence of dementia versus placebo, but major bleeding risk more than doubled. The findings are hypothesis-generating and require validation.

CKD transcriptional risk was linked to faster cognitive decline, brain atrophy and amyloid accumulation in Alzheimer’s disease.

CKD Transcriptional Risk Linked to Alzheimer’s Disease Progression

Analysis of 2,609 participants across four cohorts found that higher CKD transcriptional risk scores were associated with faster cognitive decline, greater temporal cortical atrophy and accelerated amyloid accumulation. Brain-based CKD risk scores also correlated with greater amyloid burden, with amyloidopathy partly mediating the link between CKD-related molecular risk and cognitive decline.

PEDIATRICS

Neurodivergent adolescents showed higher rates of vaping, smoking, alcohol and illicit substance use in an English school survey.

Neurodivergence Linked to Higher Substance Misuse Risk in Adolescents

Analysis of 21,749 secondary school students in England found that 25.1% identified as neurodivergent. Although frequent substance misuse was generally uncommon, neurodivergent adolescents were significantly more likely to report daily vaping or smoking, frequent or binge drinking, and lifetime illicit drug use after adjustment for demographic and psychological risk factors.

Genome-Wide Association a...

Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome