FAMILY HEALTH

The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis. There was a significant association between FGF14 (GAA)≥250 expansions and LOCA in the French Canadian and German series. One hundred twenty-eight patients with LOCA carried an FGF14 (GAA)≥250 expansion. Patients' postmortem cerebellum specimens and iPSC-derived motor neurons showed reduced expression of FGF14 RNA and protein. A dominantly inherited deep intronic GAA repeat expansion in FGF14 was found to be associated with LOCA.

Title: FGF14 (GAA)≥250 Expansions Linked to Late-Onset Cerebellar Ataxias: Insights from Genetic Studies

NEUROLOGY

Dexmedetomidine was associated with lower odds of stroke-heart syndrome in critically ill ischemic stroke patients.

Dexmedetomidine and Stroke-Heart Syndrome After Ischemic Stroke

A retrospective study of 953 mechanically ventilated patients with ischemic stroke found that dexmedetomidine use within 72 hours of ICU admission was associated with 39% lower odds of stroke-heart syndrome. The association varied with cumulative dose, treatment duration, and antiplatelet therapy. Prospective studies are needed to confirm these findings.

GYNAECOLOGY - IVF

Embryo reduction in triplet pregnancies prolonged gestation but did not lower maternal obstetric complications.

Embryo Reduction in Triplet Pregnancies: Maternal Outcomes

A Spanish study of 120 trichorionic triamniotic triplet pregnancies found that elective embryo reduction was associated with later delivery, with median gestational age increasing from 33.1 weeks to 36.2–36.6 weeks. However, it did not reduce maternal complications such as preeclampsia, gestational diabetes, or intrahepatic cholestasis, highlighting the need for individualized, non-directive counseling.

DERMATOLOGY

A three-level framework highlights how patient partnerships may improve hidradenitis suppurativa care and research.

Hidradenitis Suppurativa: A Three-Level Patient Partnership Framework

A narrative review proposes a three-level framework for patient partnerships in hidradenitis suppurativa (HS), spanning individual care, patient communities, and research collaboration. Strategies such as shared decision-making, teach-back communication, and online peer networks may improve treatment adherence, patient satisfaction, and the relevance of research, supporting more patient-centred care.

PULMONOLOGY

A machine learning model predicts mortality in critically ill COPD and sepsis patients, outperforming SOFA in internal testing.

AI Model Predicts Mortality in COPD and Sepsis Patients

A machine learning study involving 4,900 critically ill patients with COPD and sepsis developed a naive Bayes model to predict in-hospital mortality. The model outperformed the SOFA score in internal testing, achieving an AUC of 0.743 versus 0.696, but performance declined to 0.681 during external validation. Prospective multicentre validation is needed before routine clinical use.

The CFTR I556V variant may increase COPD risk by promoting oxidative stress, lung inflammation, and airway remodelling.

CFTR I556V Variant and COPD Risk: Genetic Study Findings

A study investigating 208 patients with COPD and 100 controls identified the CFTR I556V variant as a potential genetic risk factor for COPD, associated with nearly twice the odds of developing the disease. Cell and mouse experiments linked the variant to increased oxidative stress, mitochondrial dysfunction, lung inflammation, and airway remodelling, particularly after cigarette smoke exposure.

Scapular tip free flaps achieved 88.6% dental implant success in patients undergoing midface reconstruction after maxillectomy.

Scapular Tip Flap for Dental Implants After Maxillectomy

A 10-year study of 15 patients undergoing midface reconstruction after maxillectomy found that dental implants placed in scapular tip free flaps achieved an 88.6% success rate. Of the 35 implants placed, four failed during follow-up. All patients received removable implant-supported overdentures, highlighting the scapular tip flap as a potential option for functional dental rehabilitation.

Underweight patients had more complications and longer hospital stays after glossectomy, highlighting the role of BMI in surgical outcomes.

BMI and Surgical Outcomes After Glossectomy: Obesity Paradox

A retrospective study of 6,816 patients undergoing partial or total glossectomy found that underweight patients had the highest complication rate (35.9%) and longest hospital stay (8 days). Overweight and obese patients had shorter stays and fewer complications. The findings suggest that the observed obesity paradox may reflect greater vulnerability among underweight patients rather than a protective effect of excess weight.

A study of temporal bone resection examines reconstruction methods, wound complications, and facial nerve rehabilitation outcomes.

Temporal Bone Resection: Reconstruction and Complication Outcomes

A retrospective study of 140 adults undergoing temporal bone resection found that free flaps were used in 72 cases, with wound dehiscence and infection among the reported complications. Smoking history was associated with wound complications, while prior resection and advanced tumour stage were associated with free flap reconstruction. Facial reanimation procedures were frequently required following facial nerve sacrifice.

Low adherence to healthy dietary patterns was associated with higher oral cavity cancer risk in women in a 30-year study.

Unhealthy Diet and Oral Cavity Cancer Risk in Women

A 30-year analysis of three large US cohorts involving over 210,000 participants found that women with lower adherence to healthy dietary patterns had a higher risk of oral cavity cancer. Low adherence to the Prudent diet and Alternative Healthy Eating Index was associated with 1.86-fold and 2.17-fold higher risks, respectively. No significant associations were observed in men.

BRD4-NUTM1 fusions were linked to poorer survival in head and neck NUT midline carcinoma, a pooled analysis found.

NUT Midline Carcinoma: Tumour Location and Survival Outcomes

A pooled analysis of 81 studies examining head and neck NUT midline carcinoma found that BRD4-NUTM1 gene fusions were associated with significantly poorer overall survival (HR 8.3, 95% CI 4.26–16.23). Tracheo-laryngopharyngeal tumours showed an association with worse survival, while orbito-sinonasal tumours showed a non-significant trend towards better outcomes, suggesting primary tumour location may help guide future prognostic research.

ENDO-DIABETOLOGY

Physical activity during pregnancy was associated with lower risks of excessive weight gain and large-for-gestational-age infants.

Pregnancy Physical Activity, Gestational Weight Gain and Birth Size

A dose-response meta-analysis of 34 studies found that pregnant women with the highest physical activity levels had 30% lower risk of excessive gestational weight gain and 16% lower risk of delivering a large-for-gestational-age infant. Overall, 20 MET-hours of weekly activity was associated with a 9% lower risk of excessive weight gain, highlighting the potential benefits of staying active during pregnancy.

OPHTHALMOLOGY

Review of adult-onset Coats disease examines retinal features, treatment outcomes, recurrence and potential inflammatory mechanisms.

Adult-Onset Coats Disease: Treatment Outcomes and Imaging

A systematic review of 35 studies involving 240 adults with Coats disease examined clinical features, imaging findings and treatment outcomes. Visual acuity stabilized or improved in 57.1% of treated eyes, while recurrence occurred in 19.3%. Laser photocoagulation and anti-VEGF therapy were commonly used, with better outcomes reported in earlier disease stages. Findings also suggest a potential role for inflammatory pathways alongside VEGF-related mechanisms.

Review explores deep learning for smarter mechanical circulatory support, earlier deterioration detection and safer ICU decision-making.

Deep Learning in Mechanical Circulatory Support: ICU Applications

A review explores how deep neural networks could improve care for patients receiving temporary mechanical circulatory support (tMCS). By analyzing continuous physiological data, these systems may enable earlier recognition of cardiopulmonary deterioration, personalized pump-speed optimization, and eventually closed-loop regulation. The authors highlight transparency, explainability, clinical performance, regulatory oversight, and rigorous clinical trials as essential for safe implementation.

Review compares feticide methods before pregnancy termination, finding the lowest pooled failure rate with intracardiac potassium chloride.

Feticide Methods Before Pregnancy Termination: Systematic Review

A systematic review of 25 studies involving 10,683 cases compared pharmacological and non-pharmacological methods of inducing fetal asystole before second- or third-trimester pregnancy termination. Intracardiac potassium chloride (KCl) had the lowest pooled procedure failure rate at 0.4%, compared with higher rates for digoxin-based approaches. Serious procedure-related adverse events were uncommon in the included studies, although evidence on postmortem effects remained limited.

UK study identifies ethnic and socioeconomic inequalities in prenatal screening, highlighting the need for equitable testing access.

Ethnic and Socioeconomic Inequalities in Prenatal Screening

A UK study of 6,339 women found ethnic and socioeconomic disparities in prenatal screening access. Black and Mixed-ethnicity women, along with women living in the most deprived areas, were more likely to receive the less accurate quadruple screening test than White women. Further-testing uptake also varied by ethnicity, highlighting the need for equitable access to timely and appropriate prenatal screening.

Deep Intronic FGF14 GAA R...

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia