FAMILY HEALTH

Structural birth defects occur in approximately 3% of live births; most such defects lack defined genetic or environmental causes. Despite advances in surgical approaches, pharmacologic prevention remains largely out of reach. We queried worldwide databases of 20,248 families that included children with neurodevelopmental disorders and that were enriched for parental consanguinity. Approximately one third of affected children in these families presented with structural birth defects or microcephaly. We performed exome or genome sequencing of samples obtained from the children,..

Structural Birth Defects in Children: Genetic and Environmental Causes Explored in 20,248 Families with Neurodevelopmental Disorders

PSYCHIATRY

Study links genital responses during sexual trauma recall with PTSD severity and significant emotional and daily-life impact.

Genital Responses to Sexual Trauma Memories Linked to PTSD Severity

A study of 1,057 patients with PTSD and a history of sexual abuse found that 34.4% reported genital responses during sexual abuse memory recall. Most experienced shame, disgust, or self-hatred, while 38.2% reported a strong impact on daily life. Disgust and self-hatred were associated with greater PTSD severity, supporting systematic clinical assessment of these responses.

RHEUMATOLOGY

Severe microvascular damage in systemic sclerosis was linked to bilateral carotid plaques, while age and SBP remained key predictors.

Systemic Sclerosis Microvascular Damage Linked to Carotid Plaques

A cross-sectional study of 165 patients with systemic sclerosis found carotid plaques in 46.7%, including bilateral plaques in 20.6%. Although overall nailfold videocapillaroscopy abnormalities were not associated with carotid atherosclerosis, late scleroderma patterns, avascular areas, and reduced capillary density were linked to bilateral plaques. Age and systolic BP remained stronger predictors of carotid disease.

Study finds mild liver enzyme elevations common with allopurinol, with alcohol increasing risk and dose escalation remaining safe.

Allopurinol and Liver Enzyme Elevation in Gout Patients

A prospective study of 150 gout patients found that 20% developed elevated AST/ALT after starting allopurinol, with 86.7% of cases being mild and none severe. Alcohol use independently increased the risk, while statin use appeared protective. Liver enzyme elevation was not linked to higher allopurinol doses, supporting dose escalation despite mild-to-moderate elevations.

UROLOGY

DTI detected spinal cord damage in tethered cord syndrome, with greater abnormalities in patients with overactive bladder.

DTI Detects Spinal Cord Damage in Tethered Cord Syndrome

A study using diffusion tensor imaging (DTI) assessed spinal cord injury in 40 patients with tethered cord syndrome and bladder dysfunction. Fractional anisotropy (FA) was lower in both overactive and underactive bladder groups than in healthy controls, with significant reductions in OAB. The most severe changes occurred at T12, highlighting FA as a potential marker of spinal cord integrity.

Systematic review identifies six factors influencing physician prescribing decisions for overactive bladder pharmacotherapy.

Factors Influencing Physician Prescribing for Overactive Bladder

A systematic review of 18 studies identified six factors influencing physicians’ prescribing of pharmacotherapy for overactive bladder: medical comorbidities, industry payments, geographic differences, patient characteristics, physician demographics, and treatment goals. The findings highlight the complexity of OAB treatment selection beyond cost and comorbidities and support further research into prescribing decisions.

DERMATOLOGY

A 2026 review finds insufficient evidence to support omega fatty acids as a standalone treatment for alopecia.

Omega Fatty Acids for Hair Loss: What Does the Evidence Show?

Could omega fatty acids support hair growth? A 2026 scoping review found preclinical evidence suggesting omega-3, omega-6, and omega-9 fatty acids may influence follicle growth, inflammation, and hair loss pathways. Some clinical studies reported improved density and reduced shedding, but evidence remains inconsistent, and current data do not support omega fatty acids as a standalone treatment for alopecia.

DENTISTRY

Review reveals four factors patients value most in quality dental care, including competence, communication, trust, and continuity.

What Defines Quality Dental Care? Insights From Patients

A systematic review of 36 qualitative studies reveals how patients define quality dental care beyond clinical expertise. Four key factors emerged: confidence in organizational systems, perceived clinical competence, respectful and empathetic communication with shared decision-making, and continuity of care. The findings highlight how relational and emotional experiences can shape trust, expectations, and long-term engagement with dental services.

Oral microbiome models using saliva and supragingival plaque show strong potential for noninvasive periodontitis detection.

Oral Microbiome Shows Promise for Noninvasive Periodontitis Diagnosis

Can a simple saliva sample help detect periodontitis? An analysis of 2,303 samples found that saliva and supragingival plaque provided stronger diagnostic performance than subgingival plaque. Compact microbial signatures combined with generalized additive models achieved AUCs of 0.928 and 0.903, respectively, highlighting the potential for scalable, noninvasive microbiome-based diagnostics in precision periodontics.

ONCOLOGY

Review explores how pVHL aggregation may promote tumor dormancy and drug resistance and identifies potential therapeutic targets.

Protein aggregation, pVHL, von Hippel-Lindau, tumor dormancy, cancer drug resistance, amyloid aggregation, chemical chaperones, oncology

A review highlights protein aggregation as a dynamic, reversible process in cancer, focusing on von Hippel-Lindau tumor suppressor protein (pVHL). Mutations, stress, and chaperone dysfunction may promote pVHL aggregation, supporting tumor cell survival and dormancy. Targeting aggregation with chemical chaperones or amyloid inhibitors could potentially restore tumor-suppressor activity and overcome drug resistance

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.

A Human Pleiotropic Multi...

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion