FAMILY HEALTH

In a significant development, the U.S. health regulator has granted approval for the expanded use of BioMarin Pharmaceutical's once-daily injection, branded as Voxzogo, to treat children under the age of 5 suffering from achondroplasia, a genetic disorder characterized by short-limbed dwarfism. Voxzogo made history in 2021 as the first therapy approved by the Food and Drug Administration (FDA) for children aged five and older via the accelerated approval pathway. BioMarin has high hopes for Voxzogo, along with their recently approved gene therapy, Roctavian, for an inherited bleeding disorder, as drivers of the company's future success. The FDA's decision to expand the drug's use was supported by trial data indicating similar safety and efficacy profiles for children under 5 as for those 5 years and older.

FDA Approves Expanded Use of BioMarin's Voxzogo for Achondroplasia in Children Under 5: Implications for Pediatric Treatment

CRITICAL CARE

Study explores MI-E for airway clearance in ventilated children and highlights the need for safety and outcome research.

MI-E for Airway Clearance in Critically Ill Children

A UK multi-methods study explored mechanical insufflation-exsufflation (MI-E) use in invasively ventilated critically ill children. Survey and scoping review findings showed its use was most common in acutely unwell children with neuromuscular conditions, with broader applications also reported. Researchers highlighted inconsistent reporting of settings and outcomes and called for studies on safety and wider use.

RHEUMATOLOGY

Canadian study finds mild functional impairments persist in one-third of children with newly diagnosed JIA.

Functional Outcomes in Children With Juvenile Idiopathic Arthritis

A Canadian study of 940 children with newly diagnosed juvenile idiopathic arthritis (JIA) found that functional impairment generally improved within the first year. While 38% had little impairment and 24% recovered within 1–2 years, 38% had mild persistent impairment. A baseline Kids Disability Screen score ≥1.5 helped identify children at risk.

Study highlights limited formal social care and heavy reliance on family support among patients with RMDs.

Social Care Needs in Patients With Rheumatic Diseases

A study from Salford and Norfolk, England, found that many patients with rheumatic and musculoskeletal diseases (RMDs) needed help with daily activities, yet formal social care was rarely provided. Most relied on family and friends, with patients who had multiple conditions more likely to require support. Researchers recommend routine social care reviews in rheumatology practice.

NEUROLOGY

UK study finds genetic ancestry was not associated with greater MS severity or disability in a diverse cohort.

Genetic Ancestry and Multiple Sclerosis Severity

A UK study of 816 people with multiple sclerosis found no consistent association between South Asian or African genetic ancestry and greater MS severity compared with European ancestry. Researchers also identified no genetic variants significantly associated with disease severity, suggesting previously observed differences in MS outcomes may not have a genetic basis.

DERMATOLOGY

GBD 2021 analysis finds rising global acne burden, with higher rates among women and high-SDI regions.

Global Trends in Acne Vulgaris Burden: GBD 2021 Analysis

A GBD 2021 analysis across 204 countries found 239.7 million prevalent and 124.3 million incident acne cases globally in 2021, with 5.126 million DALYs. Age-standardized prevalence, incidence, and DALY rates increased since 1990. Women and high-SDI regions had higher burdens, while China’s burden is projected to rise over the next 15 years.

DENTISTRY

Study finds PRGF may improve healing and reduce postoperative effects after endodontic surgery, depending on GTR technique.

PRGF and Guided Tissue Regeneration in Endodontic Surgery

A retrospective study of 161 adults found that plasma rich in growth factors (PRGF) improved early soft tissue healing after endodontic surgery when used alone. Combined with a collagen membrane, PRGF reduced analgesic use, adverse effects and quality-of-life impact while preserving clinical attachment. However, benefits were limited when PRGF was combined with membrane and bone grafting.

Survey finds women with SARDs are interested in physician-endorsed AI tools for health and reproductive information.

Generative AI for Health Information in Women With SARDs

A survey of 190 reproductive-age women with systemic autoimmune and rheumatic diseases found that 77.4% were familiar with generative AI, but only 29% had used it for health questions. Nearly 90% saw potential healthcare benefits, while 88% would consider a physician-recommended AI tool. Participants viewed AI as an adjunct to, not a replacement for, rheumatologist guidance.

Meta-analysis finds higher influenza, bronchitis and herpes zoster risks with JAK–STAT inhibitors in skin diseases.

JAK–STAT Inhibitors and Infection Risk in Skin Diseases

A meta-analysis of 74 randomized trials involving more than 29,000 patients found that JAK–STAT inhibitors used for skin immune-mediated inflammatory diseases increased the risks of influenza, bronchitis and herpes zoster versus placebo. Risks were particularly elevated in atopic dermatitis, while topical JAK–STAT inhibitors showed a safety profile comparable to controls.

Review highlights invasive and disseminated dermatophytosis in immunocompromised patients and the need for early treatment.

Deep Dermatophytosis in Immunocompromised Patients

A systematic review of 134 patients with deep dermatophytosis found that immunodeficiency, including renal transplantation and CARD9 or STAT3 mutations, increases the risk of invasive infection. Trichophyton rubrum was the most common pathogen, with dissemination involving lymph nodes and, rarely, bone, lung and brain. Early diagnosis and prolonged antifungal treatment may be needed.

OPHTHALMOLOGY

Long-arc ICRS improved vision and corneal parameters in central hyperprolate keratoconus without reported complications.

Long-Arc ICRS for Central Hyperprolate Keratoconus

A retrospective study of 35 eyes with moderate to advanced central hyperprolate keratoconus found that long arc-length intrastromal corneal ring segment implantation significantly improved corrected distance visual acuity and reduced spherical equivalent. Corneal shape and higher-order aberrations also improved, with no intraoperative or postoperative complications reported during a median 19-month follow-up.

International experts provide updated evidence-based recommendations for lentigo maligna diagnosis, treatment and follow-up.

International Consensus Recommendations for Lentigo Maligna

A global consensus of 53 multidisciplinary experts, coordinated by the International Dermoscopy Society, provides evidence-based recommendations for lentigo maligna diagnosis, treatment and follow-up. Dermoscopy and reflectance confocal microscopy can aid lesion assessment, while complete excision remains the preferred treatment. Margin-controlled surgery, imiquimod or radiotherapy may be considered for selected lesions.

Daylight PDT caused less pain but achieved lower 1-year clearance than conventional PDT for actinic keratoses.

Simulated Daylight vs Conventional PDT for Actinic Keratoses

A randomized trial of 69 patients with 1,458 actinic keratoses found that simulated daylight photodynamic therapy (SDL-PDT) was significantly less painful than conventional PDT, with mean pain scores of 0.8 versus 6.6. However, 1-year clearance was lower with SDL-PDT (71.0% vs 85.3%), so it did not meet non-inferiority criteria. Nearly all patients preferred SDL-PDT.

UK Biobank study links maternal and personal smoking with higher osteoarthritis risk regardless of genetic susceptibility.

Smoking Exposure and Osteoarthritis Risk: UK Biobank Study

A UK Biobank study of 321,075 adults found that both maternal smoking around childbirth and personal smoking were independently associated with higher risks of knee, hip, hand and overall osteoarthritis. Personal smoking showed dose-dependent associations with OA risk, and the findings were consistent across different levels of genetic susceptibility.

Study characterizes ICI-induced eosinophilic fasciitis and highlights early recognition and treatment of this rare adverse event.

Immune Checkpoint Inhibitor-Induced Eosinophilic Fasciitis

A study of 121 cases of immune checkpoint inhibitor-induced eosinophilic fasciitis (ICI-EF) found that melanoma was the most common underlying cancer and PD-1 inhibitors were the predominant drug class involved. Treatment mainly included ICI discontinuation and systemic corticosteroids, with methotrexate also frequently used. Partial or complete symptom resolution occurred in 66% of cases.

Study identifies elevated IL-6 in MMP and reports clinical improvement with tocilizumab in severe refractory disease.

Tocilizumab for Severe Refractory Mucous Membrane Pemphigoid

A proteomic study found elevated IL-6, IL-8, MIP-1α/CCL3 and MIP-1β/CCL4 in patients with mucous membrane pemphigoid (MMP). In nine patients with severe, treatment-refractory MMP, tocilizumab reduced mean disease activity scores from 14.8 to 4.2. At final evaluation, 78% achieved partial remission and 11% complete remission.

BioMarin's dwarfism thera...

BioMarin's dwarfism therapy gets FDA nod for expanded use