PSYCHIATRY

NEUROG1 gene is yet to be associated with a set of human phenotypes in the OMIM database. Three cases have previously been diagnosed with cranial dysinnervation due to biallelic variants in the NEUROG1 gene. This is the fourth and a novel report of a sibling pair harboring a homozygous variant in the NEUROG1 gene with autism as an additional phenotype. A brief review of the literature in conjunction with a genotype–phenotype correlation has been described. A potential hypothesis for the presence of the autistic phenotype in the present case has also been elucidated.

NEUROG1 Gene Variants and Autism: A Case Report and Genotype-Phenotype Correlation

GASTROENTEROLOGY

T-TAS showed reproducible assessment of thrombus formation in cirrhosis with thrombocytopenia, warranting prospective validation.

T-TAS Assesses Primary Haemostasis in Thrombocytopenic Cirrhosis

The CirTAS study involving 81 patients with cirrhosis and thrombocytopenia found that the Total Thrombus Analysis System (T-TAS) demonstrated high reproducibility, including at platelet counts below 50 × 10⁹/L. Thrombus formation decreased with worsening disease severity and bacterial infection, supporting further validation of T-TAS for assessing bleeding-related risks.

Moral injury and PTSD commonly co-occurred among Dutch veterans and were associated with psychopathology and poorer family functioning.

Moral Injury and PTSD Profiles Among Dutch Treatment-Seeking Veterans

A study of 455 treatment-seeking Dutch veterans found three distinct profiles of moral injury and PTSD: subclinical (20.9%), moderate (47.9%) and high (31.2%). Greater symptom severity was associated with increased comorbid psychopathology and poorer family functioning, highlighting the importance of assessing moral injury in veteran mental healthcare.

GYNAECOLOGY - IVF

Pre-delivery PTSD was associated with modestly higher risks of cesarean delivery, low birth weight, and preterm birth.

PTSD Before Delivery Linked to Adverse Pregnancy Outcomes

A nationwide Taiwanese matched cohort study of 8,706 women found that PTSD diagnosed within 1 year before delivery was associated with increased risks of cesarean delivery (aOR 1.18), low birth weight (aOR 1.19), and preterm birth (aOR 1.21). No significant associations were observed with stillbirth, congenital anomalies, or abnormal Apgar scores.

Liver stiffness measurement accurately identified clinically significant congestion in Budd–Chiari syndrome.

Liver Stiffness Measurement Improves Congestion Assessment in Budd–Chiari Syndrome

A retrospective study of 66 patients with Budd–Chiari syndrome found that liver stiffness measurement (LSM) effectively distinguished controlled from uncontrolled clinical status, with an AUC of 0.985. An LSM cutoff of 25 kPa achieved 97.5% sensitivity and 92.5% specificity. Spleen stiffness provided complementary but inferior diagnostic performance.

The ALPS-HCC machine learning score improved HCC risk prediction in chronic hepatitis B using dynamic clinical indicators.

ALPS-HCC Machine Learning Score Predicts HCC Risk in Chronic Hepatitis B

A multicentre study of 1,873 patients with chronic hepatitis B and compensated advanced chronic liver disease developed the ALPS-HCC score using dynamic and baseline clinical measures. The XGBoost model achieved an AUROC of 0.852, with changes in liver stiffness measurement identified as the most important predictor, enabling low-, intermediate-, and high-risk stratification.

OPHTHALMOLOGY

A new evidence-based guideline supports standardized diagnosis, treatment, and follow-up of pediatric and adult keratoconus.

Evidence-Based Guideline for Keratoconus Diagnosis and Management

A newly developed evidence-based guideline provides recommendations for diagnosing, staging, and managing keratoconus in children and adults. Using systematic evidence synthesis and the GRADE approach, it addresses corneal cross-linking, intrastromal corneal ring segments, keratoplasty, and individualized follow-up. Most recommendations remain conditional because evidence certainty is low or very low in several clinical areas.

UROLOGY

Low tumor ADC on MRI was linked to higher distant metastasis risk in intermediate-risk prostate cancer over 10 years.

Tumor ADC on MRI May Predict Prostate Cancer Metastasis Risk

A 10-year retrospective study of 238 men with intermediate-risk prostate cancer found that lower pretreatment tumor ADC on multiparametric MRI was associated with worse long-term outcomes. Patients with ADC ≤0.668 × 10⁻³ mm²/s had nearly four times higher risk of distant metastasis, suggesting ADC may provide additional prognostic information beyond standard clinical risk classification.

Testosterone increases during enzalutamide monotherapy were not directly associated with gynaecomastia in recurrent prostate cancer.

Enzalutamide-Related Testosterone Rise Not Linked to Gynaecomastia

A prospective study of 38 men with biochemically recurrent prostate cancer found that intermittent enzalutamide monotherapy increased serum testosterone by a median 63%, reaching 832.5 ng/dL. Gynaecomastia symptoms occurred in 42% of patients, but neither peak testosterone levels nor the duration of testosterone elevation was associated with its development.

NEUROLOGY

Higher estradiol was associated with lower CSF tau levels, particularly in APOE ε4 carriers, in an Alzheimer’s cohort.

Estradiol Linked to Lower Tau Biomarkers in Alzheimer’s Disease

An analysis of 854 women from the European Prevention of Alzheimer’s Dementia cohort found that higher serum estradiol was associated with lower baseline tau levels in cerebrospinal fluid, particularly among APOE ε4 carriers. Estradiol was not associated with amyloid-beta 42, while estrone showed a modest association with slower pTau181 increases in exploratory longitudinal analyses.

Worse hearing was associated with higher amyloid burden across several brain regions on PET imaging.

Hearing Loss Linked to Higher Brain Amyloid Burden

Worse hearing was associated with greater cerebral amyloid deposition on PET imaging in 223 adults aged about 66 years. A 10-dB worsening in hearing was linked to higher amyloid in the left temporal region, while poorer word recognition was associated with higher amyloid across several temporal, parietal, cingulate, frontal, and global regions.

DERMATOLOGY

A review proposes a multidimensional framework to identify and monitor progression in hidradenitis suppurativa.

New Framework Proposed to Assess Hidradenitis Suppurativa Progression

A review proposes a multidimensional framework for assessing hidradenitis suppurativa (HS) progression across disease severity, anatomical spread and cumulative disease burden. Longitudinal studies suggest progression varies by care setting, with tertiary cohorts reporting approximately 37% progression over 2 years. Early-onset disease, smoking, inflammatory bowel disease and pilonidal sinus were among the most consistent risk factors.

PEDIATRICS

A Colombian nationwide study reports chILD prevalence of 3.32 per 100,000 children and rising annual case rates.

chILD Prevalence and Trends in Colombia: Nationwide Study

A nationwide Colombian study identified 4,608 healthcare encounters related to childhood interstitial and diffuse lung disease (chILD) from 2016–2024. Average annual prevalence was 3.32 per 100,000 children, highest among infants and with a secondary rise during adolescence. Reported cases increased annually (IRR 1.022), while declining markedly during the COVID-19 pandemic.

Ultrasound radiomics showed limited added value over conventional ultrasound for distinguishing HGSC from LGSC.

Ultrasound Radiomics for Serous Ovarian Cancer Diagnosis

A retrospective pilot study of 153 patients found that ultrasound radiomics features could distinguish high-grade serous ovarian carcinoma (HGSC) from invasive low-grade serous carcinoma (LGSC), but offered limited improvement over conventional ultrasound. The clinical–radiomics model achieved an optimism-corrected ROC-AUC of 0.80, compared with 0.78 for ultrasound alone.

RHEUMATOLOGY

Social network patterns may influence health behaviors and inform peer-led interventions for Black individuals with rheumatic conditions.

Social Networks and Health Behaviors in Rheumatic Conditions

A study mapping the social networks of 40 Black individuals with rheumatic conditions in Boston and Chicago found that smoking and drinking behaviors clustered within networks. Differences in network structure, family connections, and diversity may influence how health information and behaviors spread, potentially informing future community-based, peer-led interventions.

MotionWatch 8 provided useful sleep estimates but showed wide variability and cannot replace polysomnography.

Actigraphy vs Polysomnography for Sleep Assessment

A tertiary sleep-centre study of 107 patients found that MotionWatch 8 actigraphy provided clinically useful group-level estimates of total sleep time but differed from polysomnography (PSG), with wide individual variability. Older age and periodic limb movements altered the magnitude of these differences, supporting actigraphy as a PSG adjunct rather than an interchangeable alternative.

A novel case of two sibli...

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report