GYNAECOLOGY - IVF

The study aimed to evaluate the usefulness of single gene non-invasive prenatal screening (NIPS-SGD) in a high-risk reproductive genetics clinic. The NIPS-SGD panel assessed pathogenic variants in 30 genes for pregnant individuals with indications such as advanced sperm age, nuchal translucency, fetal anomaly, or family history of a condition covered by the panel. Out of 253 individuals who underwent NIPS-SGD, 8 (3.5%) tested positive, and 5 cases had altered medical management. However, NIPS-SGD should not replace clinically indicated diagnostic testing. There is a possibility of incidental findings, such as parental diagnoses and misattributed parentage.

Exploring the Impact of NIPS-SGD in High-Risk Reproductive Genetics Clinic: A Study on Pathogenic Variants in 30 Genes

GENERAL MEDICINE

PULMONOLOGY

Systems vaccinology found comparable antibody responses but attenuated proteomic and transcriptomic immune remodeling after COVID-19 vaccination in treated pulmonary tuberculosis patients.

COVID-19 Vaccination Shows Attenuated Immune Remodeling in Pulmonary TB

A nested analysis of a multicenter phase IV randomized controlled trial compared 38 pulmonary tuberculosis (PTB) patients receiving anti-tuberculosis therapy with 38 healthy controls following two doses of an inactivated COVID-19 vaccine. Although both groups developed comparable neutralizing antibody titers and seroconversion rates, PTB patients showed distinct baseline immune abnormalities, including reduced proteins involved in vesicle transport and phagocytosis and pro-inflammatory transcriptional changes. After vaccination, healthy controls demonstrated broad proteomic and transcriptomic remodeling, whereas PTB patients showed limited molecular and inferred immune-cell changes, suggesting attenuated systems-level immune activation despite preserved short-term antibody responses.

DERMATOLOGY

Emerging biologics and targeted small molecules are expanding treatment options for hidradenitis suppurativa, despite variable trial results.

Emerging Targeted Therapies for Hidradenitis Suppurativa

The therapeutic pipeline for hidradenitis suppurativa is expanding beyond conventional approaches, with investigational therapies targeting IL-17, IL-1, TNF, JAK, TYK2, complement and other inflammatory pathways. Novel biologics, bispecific agents and oral small-molecule inhibitors show promise, although clinical responses remain heterogeneous across trials.

ENDO-DIABETOLOGY

A Danish cohort found GLP-1RA use was more frequent and earlier in hidradenitis suppurativa, with reduced treatment and surgical utilization after initiation.

GLP-1RA Use and Treatment Patterns in Hidradenitis Suppurativa

A nationwide Danish register-based cohort study compared 12,581 patients with hidradenitis suppurativa (HS) with 9,824 psoriasis patients and 12,581 matched background controls. During follow-up, 8.2% of HS patients initiated GLP-1 receptor agonists (GLP-1RAs), compared with 5.7% of psoriasis patients and 3.2% of controls. GLP-1RA initiation occurred earlier in HS patients, at a mean of 8.88 years, versus 10.1 and 10.2 years in the psoriasis and control groups, respectively. After initiation, lower rates of surgical procedures and systemic medication use were observed, although similar declines occurred among matched non-users, limiting conclusions about a treatment effect.

A 20-case study found ventriculomegaly was the most common prenatal finding in fetuses with DLL1 variants or 6q27 deletions, supporting further genetic evaluation.

Prenatal Ultrasound Features of DLL1 Variants and 6q27 Deletions

A retrospective study of 20 pregnancies with fetuses carrying a DLL1 single-nucleotide variant (SNV) or pure 6q27 deletion evaluated prenatal ultrasound findings and genetic results. Most diagnoses were made in the second or third trimester, with ventriculomegaly being the most common prenatal finding, identified in 11 cases, including six isolated and five non-isolated cases. DLL1 deletions and SNVs were each identified in 10 cases. The findings highlight that even nonspecific central nervous system abnormalities on prenatal ultrasound may warrant further genetic evaluation, including exome sequencing.

RHEUMATOLOGY

A study of 4,521 RA patients found plasma calprotectin correlated with inflammatory activity, joint involvement, pain, and broader anti-modified protein autoantibody responses.

Plasma Calprotectin Linked to Disease Activity and Autoantibody Burden in RA

A cross-sectional study of 4,521 Scandinavian patients with rheumatoid arthritis (RA) evaluated plasma calprotectin in relation to inflammatory markers, clinical disease activity, and autoantibody profiles. Calprotectin correlated with ESR (ρ=0.53), CRP (ρ=0.47), VAS pain (ρ=0.24), SJC28 (ρ=0.39), and TJC28 (ρ=0.26). Patients with both elevated CRP and calprotectin had greater pain and joint counts than those with elevated CRP alone. Elevated calprotectin was also associated with higher positivity and broader responses to anti-modified protein autoantibodies (AMPAs), including anti-CCP2, independent of CRP levels and other clinical factors.

PEDIATRICS

A retrospective study suggests maternal age may influence clinical laboratory associations of GBS colonization during pregnancy, warranting further prospective research.

Maternal Age and Clinical Associations of GBS Colonization in Pregnancy

A retrospective case-control study of 265 pregnant women examined whether maternal age influenced clinical parameters associated with Group B Streptococcus (GBS) colonization. Among women aged <35 years, GBS-positive women had slightly lower third-trimester hemoglobin levels and a statistically significant but clinically negligible earlier delivery. In women aged ≥35 years, GBS colonization was associated with higher fasting and 2-hour OGTT glucose levels and a higher second-trimester neutrophil percentage. No significant differences were observed in birth weight, infant sex, or mode of delivery. The findings are hypothesis-generating and require confirmation in larger prospective studies.

OPHTHALMOLOGY

Review highlights imaging, immune testing and molecular diagnostics for probability-based diagnosis and monitoring of tubercular uveitis.

Tubercular Uveitis: Multimodal Imaging and Diagnostic Advances

Tubercular uveitis remains challenging to diagnose because microbiologic confirmation is uncommon and its clinical features overlap with other inflammatory eye disorders. A 2026 narrative review highlights multimodal imaging, tuberculosis immune testing, molecular diagnostics, biomarker research, mimic exclusion, treatment response, and longitudinal monitoring for a probability-based approach to diagnosis and management.

Study links socioeconomic and clinical factors to increased odds of complex cataract surgery, supporting improved preoperative risk assessment.

Socioeconomic Factors and Complex Cataract Surgery Risk

A multicentre U.S. study found that socioeconomic factors remained associated with complex cataract surgery even after adjusting for clinical risk factors. Older age, male sex, poorer vision, greater cataract density, Black or Asian race, diabetes, pseudoexfoliation and certain medications were also linked to increased risk, supporting enhanced preoperative risk assessment.

ONCOLOGY

KDM4A drives testicular cancer metastasis through STAT1-dependent CCL3 activation and the PI3K/AKT signaling pathway.

KDM4A Promotes Metastasis in Testicular Germ Cell Tumors

Researchers identified KDM4A as a key epigenetic driver of testicular germ cell tumor metastasis. KDM4A promotes H3K9me3 demethylation and activates STAT1-dependent CCL3 transcription, triggering PI3K/AKT signaling, focal adhesion turnover, tumor invasion and lung colonization. Targeting KDM4A may offer a potential therapeutic strategy for metastatic disease.

Study finds obesity awareness was not associated with BMI or anthropometric measures but varied with family and occupational factors.

Obesity Awareness Not Linked to BMI in Cross-Sectional Study

A cross-sectional study of 123 adults found no significant association between obesity awareness and objective measures such as BMI, waist-hip ratio, or waist-to-height ratio. However, having a family member with obesity and occupational status were associated with awareness levels, highlighting the potential influence of social and behavioral factors.

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.

NEUROLOGY

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.

The Future of Prenatal Sc...

The Future of Prenatal Screening: NIPS-SGD for Autosomal Dominant Conditions