FAMILY HEALTH

The study published in Genome Medicine on April 5, 2023, reports that rare genetic variants of genes involved in type I interferon (IFN) immunity, specifically TLR3- and TLR7-dependent pathways, can underlie life-threatening COVID-19, particularly in patients under 60 years old. The study conducted a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19 and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. No gene reached genome-wide significance, but the study found that under a recessive model, the most significant gene with at-risk variants was TLR7, and 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity showed enrichment in rare predicted loss-of-function variants. Finally, the patients with these rare variants were significantly younger than the other patients.

Genome Medicine Study Reveals Rare Genetic Variants Linked to Life-Threatening COVID-19 in Younger Patients

OPHTHALMOLOGY

Meta-analysis links retinal vein occlusion to increased cancer and lymphoma risk, highlighting the need for systemic evaluation in atypical cases.

Retinal Vein Occlusion Linked to Increased Lymphoma and Cancer Risk

A systematic review and meta-analysis of 26 studies found that retinal vein occlusion (RVO) was associated with an approximately 22% higher risk of overall cancer and 50% higher odds of lymphoma. Central RVO, particularly atypical or bilateral cases, was frequently associated with severe visual impairment and systemic findings such as anaemia, hyperviscosity and IgM paraproteinaemia. The findings highlight the importance of considering haematological malignancy in selected patients with atypical RVO

Study evaluates EBV DNA monitoring and EGFR/TGF-α biomarkers to predict survival and stratify risk in stage II nasopharyngeal carcinoma.

EBV DNA and EGFR Biomarkers Improve Prognostic Stratification in Stage II NPC

A prospective study of 66 patients with stage II nasopharyngeal carcinoma found that combining serial plasma Epstein–Barr virus (EBV) DNA monitoring with tumour EGFR and TGF-α expression may improve prognostic risk stratification. Post-treatment EBV DNA abnormalities and EGFR positivity independently predicted poorer overall survival. A three-tier biomarker score differentiated 5-year survival outcomes, supporting further investigation of personalised treatment strategies. External validation is needed before clinical implementation.

Systematic review finds a low malignancy risk in isolated asymptomatic tonsillar enlargement, supporting selective diagnostic tonsillectomy.

Malignancy Risk in Isolated Unilateral Tonsillar Enlargement

A systematic review of 18 studies involving 1,582 tonsillectomy specimens found a very low prevalence of malignancy in patients with isolated, asymptomatic unilateral tonsillar enlargement. No malignancies were identified among 751 paediatric patients, while the pooled prevalence in adults was 2.04%, with all six identified malignancies being lymphoproliferative. The findings support selective rather than routine diagnostic tonsillectomy, guided by clinical assessment and individual risk factors.

NEUROLOGY

AI-powered portable ultrasound combined with laboratory indicators may improve early stroke risk prediction in patients with carotid plaques.

AI-Powered Ultrasound Model Predicts Stroke Risk in Carotid Plaque Patients

A prospective study of 639 patients with carotid plaques developed a risk prediction model combining AI-powered portable ultrasound imaging with laboratory indicators. Previous stroke, myocardial infarction, plaque thickness, and LDL and HDL cholesterol levels independently predicted anterior circulation stroke. The model achieved an AUC of 0.884, with 84.29% sensitivity and 72.55% specificity, suggesting potential for early stroke risk stratification, particularly in resource-limited settings.

Network meta-analysis compares thyroidectomy energy devices, with Harmonic showing favourable outcomes across several surgical measures.

Harmonic vs LigaSure in Thyroidectomy: Surgical Outcomes Compared

A network meta-analysis of randomised controlled trials compared advanced energy devices used in thyroidectomy. Harmonic devices were associated with shorter operative time, reduced blood loss and drainage volume, shorter hospital stays, and lower odds of transient hypocalcemia, recurrent laryngeal nerve palsy, and postoperative bleeding compared with conventional haemostasis. Although Harmonic ranked highest across most outcomes, device selection should consider individual patient needs and device-specific characteristics.

Study identifies distinct ALS progression patterns, highlighting the prognostic value of decline timing and shape alongside progression rate.

ALS Progression Patterns May Improve Prognostic Risk Stratification

A study published in Annals of Neurology (2026) found that analysing the shape and timing of functional decline alongside its rate may reveal clinically distinct amyotrophic lateral sclerosis (ALS) progression patterns. Among 1,686 patients, a subgroup with moderate early decline but reduced respiratory reserve had a median survival of 22.7 months. The findings also suggest that conventional monitoring criteria may miss many ultrarapid progressors, highlighting the value of more comprehensive disease trajectory assessment.

A study of 30,686 individuals explores how recurring dream themes vary by age and gender, supporting broader generalisability of findings.

Study of 30,686 People Reveals Age and Gender Patterns in Dream Themes

ABSTRACT
Typical content themes in dreams still defy clear explanation. While a series of studies administering typical dream theme questionnaires mainly to college students point to a surprising consistency in the prevalence of such themes over gender, age, culture, and time, it is still unclear how generalizable such findings are to the larger population. We used a validated online questionnaire, the Typical Dreams Questionnaire (TDQ), to assess the responses of 30,686 individuals who varied in age (10–85 years), gender, and student status. Results replicated several findings from an earlier study with a much smaller sample size. This included strong evidence that the number of typical themes reported decreases with age, that the prevalence of some themes differs between males and females, and that the questionnaire items tend to group into a smaller number of factors similar to those found in the previous study. Overall evidence of strong rank‐order correlations between different groups (males/females; students/non‐students) for such a large sample suggests that this version of the TDQ is highly generalizable to the larger population.

Study highlights barriers to TBI screening and strategies to improve access, awareness and follow-up support for underserved populations.

Barriers to Traumatic Brain Injury Screening in Underserved Populations

A qualitative study involving 10 individuals with lived experience of precarious housing, criminal legal involvement or violence, and 11 service providers identified key barriers to traumatic brain injury (TBI) screening. These included inconsistent implementation, stigma, competing organisational priorities and limited follow-up pathways. The findings highlight the need for inclusive screening language, accessible and engaging tools, targeted education, and coordinated support services tailored to the social circumstances of underserved populations.

CARDIOLOGY

Study links preeclampsia to impaired vascular calcium signalling and identifies a potential pathway for therapeutic vasorelaxation.

Preeclampsia: Impaired Calcium Signalling and Vascular Dysfunction

A study of maternal resistance arteries found that preeclampsia is associated with reduced calcium spark activity, impaired sarcoplasmic reticulum calcium storage and fewer spontaneous transient outward currents. Increased inhibition of SERCA2 may contribute to these vascular abnormalities. Human β-defensin-2 induced BKCa-dependent vasorelaxation, highlighting a potential therapeutic pathway that may bypass disrupted calcium signalling.

Review explores epicardial fat as a potential therapeutic target across coronary artery disease phenotypes and highlights evidence gaps.

Epicardial Adipose Tissue: A Potential Target in Coronary Artery Disease

Epicardial adipose tissue (EAT), the fat depot surrounding the heart, may influence diverse coronary artery disease (CAD) phenotypes, from coronary microvascular dysfunction to high-risk atherosclerotic plaque formation. This review highlights how lifestyle changes, bariatric surgery, GLP-1 receptor agonists, SGLT2 inhibitors, lipid-lowering drugs and anti-inflammatory therapies can modify EAT. However, whether these changes independently improve cardiovascular outcomes remains uncertain.

GYNAECOLOGY - IVF

A three-marker model combining TPOAb, IL-6 and IL-10 improves prediction of adverse pregnancy outcomes beyond thyroid status alone.

Thyroid and Cytokine Markers for Predicting Adverse Pregnancy Outcomes

A study developed and externally validated a prediction model combining thyroid peroxidase antibodies (TPOAb) and the inflammatory cytokines IL-6 and IL-10 to estimate adverse pregnancy outcomes. The model achieved an AUC of 0.750 in external validation, outperforming thyroid status alone (AUC 0.625). Although promising, calibration refinement and larger multicentre validation are needed before clinical implementation.

Verteporfin reduced fibrosis-related gene expression in iSGS fibroblasts, highlighting a potential target for future antifibrotic therapies.

Verteporfin and YAP/TAZ Signalling in Idiopathic Subglottic Stenosis

A study investigating idiopathic subglottic stenosis (iSGS) found increased expression of the fibrosis-associated marker EN1 and its linked YAP/TAZ signalling pathway in diseased tissue. In laboratory experiments, verteporfin treatment reduced COL1A1 gene expression by 81.75% and also decreased COL3A1 and EN1 expression in patient-derived fibroblasts. These preliminary findings suggest a potential strategy for targeting airway fibrosis, requiring further validation.

Early SLP consultation after open tracheostomy is associated with faster decannulation, shorter hospital stays and lower costs.

Early SLP Consultation Improves Tracheostomy Recovery Outcomes

Early involvement of speech-language pathologists (SLPs) in postoperative care following open tracheostomy was associated with faster decannulation and shorter hospital stays. Each day earlier that SLP consultation occurred was associated with a 1.39-day reduction in hospital length of stay and estimated daily cost savings of $1,039 to $2,221, depending on the care unit. Findings support timely SLP involvement, although further validation is needed in other tracheostomy populations.

PSYCHIATRY

Review explores how the timing and duration of childhood adversity may influence brain development and future mental health.

Adverse Childhood Experiences and Sensitive Periods of Brain Development

A systematic review of 43 neuroimaging studies suggests that earlier onset and longer duration of adverse childhood experiences (ACEs) are associated with changes in brain regions involved in emotion, memory and stress regulation, including the hippocampus and amygdala. However, evidence for specific sensitive developmental periods remains inconsistent. Longitudinal research integrating adversity exposure and neuroplasticity measures may help guide the timing of preventive and therapeutic interventions.

Study finds the Kimura–Sato formula more accurate than Nakamura–Kamiya for predicting ICL vault and selecting lens size.

Kimura–Sato vs Nakamura–Kamiya Formula for ICL Vault Prediction

A retrospective study of 327 eyes compared two formulas for predicting postoperative vault after implantable collamer lens (ICL) implantation. The Kimura–Sato formula showed better agreement with achieved vault, lower prediction errors and greater consistency with the implanted lens size than the Nakamura–Kamiya formula. However, both methods showed variable accuracy, highlighting the need to refine ICL sizing strategies. Findings reflect outcomes at one month.

Genetic Roulette: The Rol...

Genetic Roulette: The Role of Type I IFN Immunity Gene Variants in Severe COVID-19 Cases