NEUROLOGY

Technological advances over the past decade have made precision genetic diagnosis available to many patients. The findings of a new study demonstrate that genetic diagnosis in epilepsy can lead to changes in clinical management that manifest as positive outcomes for the patient. The results herald a new era in which precision diagnosis will lead to precision medicine.

Precision Genetic Diagnosis in Epilepsy: Impact on Clinical Management and Patient Outcomes | New Study Insights

CARDIOLOGY

Study highlights infrastructure needed to safely scale mainstream cardiac genetic testing in cardiomyopathy patients.

Cardiac Genetic Testing Needs Infrastructure for Safe Scale-Up

A cardiomyopathy program study of 482 patients found pathogenic or likely pathogenic variants in 19.7%, with 18.9% of genotype-positive patients carrying high-risk variants. Variant reclassification affected 1 in 60 patients, while carrier findings accounted for 21.5% of pathogenic variants, highlighting the need for surveillance, genetics referral, and family-screening pathways.

Brazilian study expands FLNC genotype-phenotype data and identifies potential markers for cardiomyopathy risk stratification.

FLNC Variants Linked to Diverse Cardiomyopathy Phenotypes

A Brazilian study of 97 carriers of pathogenic or likely pathogenic FLNC variants found distinct genotype-phenotype patterns across cardiomyopathies. Truncating variants predominated in arrhythmogenic and dilated cardiomyopathy, while missense variants were more common in hypertrophic and restrictive forms. Ventricular arrhythmias, low QRS voltage, and myocardial fibrosis may aid future risk stratification.

MCA Doppler PI may help predict fetal distress during labor induction, with a cutoff of 1.44 showing high sensitivity.

MCA Doppler PI Predicts Fetal Distress During Labor Induction

A prospective study of 529 women undergoing labor induction found that umbilical artery and middle cerebral artery Doppler indices differed significantly between women with and without fetal distress. An MCA PI cutoff of 1.44 predicted fetal distress with 88.9% sensitivity and 80% specificity, supporting Doppler assessment as a potential tool for intrapartum risk evaluation.

Review explores lncRNAs as regulators, biomarkers, and potential therapeutic targets in congenital heart disease.

lncRNAs Show Promise in Congenital Heart Disease Diagnosis

An in-depth review highlights how long noncoding RNAs regulate cardiac development and congenital heart disease through Notch, Wnt/β-catenin, BMP, and TGF-β pathways. Molecules including Braveheart, Fendrr, CARMEN, H19, and MALAT1 may influence cardiac morphogenesis, while circulating and exosomal lncRNAs show promise as prenatal biomarkers.

Study finds antibiotic prophylaxis may not reduce infections after septoplasty, while nasal mupirocin shows promise.

Antibiotic Prophylaxis and Infection Risk After Septoplasty

A retrospective study of 1,169 adult septoplasties found postoperative infections in 1.9% of patients, with no significant difference between those who received preoperative antibiotic prophylaxis and those who did not. Longer surgery and silicone splints increased infection risk, while preoperative nasal mupirocin was associated with no infections and may warrant further study.

OPHTHALMOLOGY

Study highlights persistent visual impairment among patients with diabetic retinopathy, diabetic macular edema, and PDR.

Diabetic Retinopathy Linked to Significant Visual Impairment

A large SOURCE repository analysis found substantial visual impairment among patients with diabetic retinopathy. At first presentation, 16.7% of eyes had vision of 20/70 or worse and 8.3% had 20/200 or worse. Visual deficits generally improved over 5 years, although diabetic macular edema showed a later increase in severe vision loss.

Personalized nutrition may improve hypertension control, but cost, access, and long-term evidence remain key challenges.

Personalized Nutrition for Better Hypertension Management

A review highlights how personalized nutrition based on genetics, gut microbiome profiles, and metabolic traits could improve blood pressure control beyond general dietary advice. Tailoring sodium and fiber intake and the DASH diet to individual biology may enhance outcomes, but larger long-term trials are needed. Cost, accessibility, adherence, and equity remain key considerations, particularly in low- and middle-income countries.

Higher initial V-A ECMO flow was linked to multi-organ failure, hemolysis, poorer neurological outcomes, and lower survival.

Higher V-A ECMO Flow Linked to Multi-Organ Failure

A retrospective study of 553 patients receiving V-A ECMO found that higher initial flow-index was associated with increased multi-organ failure, poorer neurological outcomes, and lower survival. MOF occurred in 32.7% of high-flow versus 23.0% of low-flow patients. Early hemolysis partly mediated this association, supporting individualized ECMO flow management and close organ-function monitoring.

Study finds vertigo and severe asymmetric hearing loss may improve MRI detection of vestibular schwannoma.

Vertigo and Hearing Loss Predict Vestibular Schwannoma on MRI

A retrospective study of 1,814 MRIs found vestibular schwannomas in just 1.65% of cases. Vertigo was associated with a 4-fold higher likelihood of diagnosis, while severe asymmetric sensorineural hearing loss increased the odds more than 5-fold. Isolated mild hearing asymmetry showed no cases, suggesting it may not always warrant MRI investigation.

GASTROENTEROLOGY

Alcohol-related liver risk remained stable despite rising metabolic burden and diabetes, a Finnish study of 34,756 adults found.

Alcohol-Related Liver Risk Stable Despite Rising Metabolic Burden

A Finnish population study of 34,756 adults found that the association between alcohol intake and major adverse liver outcomes remained stable from 1992 to 2012 despite substantial increases in obesity-related risk and diabetes. Metabolic adjustment did not weaken the association, suggesting that rising metabolic burden has not altered alcohol-related liver risk at the population level.

Study finds substantial differences in Nd:YAG capsulotomy rates across three FineVision trifocal IOL models over long-term follow-up.

Nd:YAG Capsulotomy Rates Differ by FineVision Trifocal IOL Model

A multicentre study of 190,567 eyes found substantial differences in Nd:YAG capsulotomy rates among three FineVision diffractive trifocal IOL models. For FineVision Micro F, cumulative rates were 3% at 1 year, 8.4% at 5 years and 10.9% at 10 years, compared with 36.8% at 5 years for FineVision POD/POD FT. IOL material and haptic design may contribute to these differences.

RHEUMATOLOGY

Study links skeletal muscle gene expression and pathways with knee osteoarthritis severity in older adults.

Skeletal Muscle Genes Linked to Knee Osteoarthritis Severity

A SOMMA study of 523 older adults identified 27 genes associated with radiographic knee osteoarthritis and 41 with more severe disease. Sixteen genes were associated with both OA thresholds, with most showing stronger associations in severe OA. Enriched pathways included DNA repair and branched-chain amino acid catabolism, suggesting skeletal muscle may influence pain, inflammation, and OA progression.

DENTISTRY

Meta-analysis estimates a 34.13% malignant transformation rate in proliferative verrucous leukoplakia, with high study heterogeneity.

Proliferative Verrucous Leukoplakia Linked to High Cancer Risk

A systematic review of 41 biomarker studies found diverse genetic, genomic, epigenetic, immune, proteomic and microbiome alterations in proliferative verrucous leukoplakia. Meta-analysis of 20 studies involving 745 patients and 243 malignant transformations estimated a pooled transformation rate of 34.13%, although substantial heterogeneity limits individual risk prediction.

Review finds pregnancy may reduce phonatory efficiency and worsen perceived voice quality, especially in late pregnancy.

Pregnancy May Affect Voice Quality and Laryngeal Function

A PRISMA-ScR review of 22 studies found that pregnancy is more consistently associated with reduced phonatory efficiency and poorer perceived voice function than major acoustic changes. Reduced maximum phonation time, vocal fold edema and reduced motility were reported, particularly in the third trimester, while singers experienced reduced vocal range and altered timbre.

UK multicentre data show limited improvement in laryngeal cancer survival, with outcomes worsening substantially at advanced stages.

Laryngeal Cancer Survival Remains Poor Despite Modern Treatment

A multicentre UK study of 2,028 patients with laryngeal squamous cell carcinoma found limited improvement in survival between 2015 and 2021. Five-year overall survival declined from 72.0% for T1 disease to 45.2% for T4 disease. Advanced-stage patients treated with chemoradiotherapy had the highest observed disease-specific survival, underscoring the need for earlier detection.

From precision diagnosis ...

From precision diagnosis to precision treatment in epilepsy