To critically evaluate the current evidence on the role of vitamin D in inflammatory rheumatic diseases, including its association with disease activity, potential immunomodulatory effects, and the clinical impact of supplementation. A narrative review was conducted based on a comprehensive search of MEDLINE, Cochrane Library, and Epistemonikos databases up to October 2025. Eligible studies included randomized controlled trials, observational studies, systematic reviews, and meta-analyses evaluating vitamin D status and/or supplementation in adult patients with inflammatory rheumatic diseases. Evidence was synthesized qualitatively, prioritizing study design and level of evidence. Vitamin D deficiency is highly prevalent across inflammatory rheumatic diseases and is associated with higher disease activity, fatigue, and poorer musculoskeletal outcomes. Experimental data support immunomodulatory effects; however, clinical evidence remains heterogeneous. Randomized controlled trials demonstrate that supplementation effectively corrects deficiency and is safe, with modest improvements in disease activity and fatigue mainly in patients with low baseline 25(OH)D levels. In contrast, large trials and Mendelian randomization studies do not support a causal role of vitamin D in disease onset or sustained remission. Meta-analyses show small and inconsistent benefits, limited by heterogeneity in study design, dosing regimens, and populations. Vitamin D deficiency is a common and clinically relevant finding in inflammatory rheumatic diseases. While supplementation reliably restores adequate levels and may provide modest clinical benefits in deficient patients, current evidence does not support a causal or disease-modifying role. Maintaining serum 25(OH)D ≥30 ng/mL remains advisable for skeletal health, whereas its immunological benefits require further investigation through well-designed randomized trials.
GZF1-related phenotype (GZF1RP) has been referred to by different names, including autosomal recessive Larsen syndrome (LRS) and "joint laxity, short stature, and myopia". Only ten patients from five families have been reported, all of whom carry biallelic variants of GZF1. They share short stature and joint dislocation with LRS; however, they present with severe ocular manifestations, suggesting that GZF1RP may be specific. In this study, we described three new patients with severe ophthalmologic phenotypes, including congenital glaucoma and abnormal iris morphology. We identified the GZF1: c.1440del (p.His481IlefsTer26) variant in homozygosity in two affected sisters and compound heterozygosity in the third patient: the same c.1440del plus c.1451_1452del (p.Cys484fs). In addition to expanding the molecular spectrum, we identified new radiological findings, such as cervical segmentation defects, carpal shortening, and lower lumbar sacralization, as well as some clinical findings uncommon in previous cases, such as umbilical hernia and congenital heart disease. We also searched for LRS case series with pathogenic variants in FLNB to identify differences between the two entities. The comparison allows us to define a recognizable GZF1RP that includes severe ocular defects, short stature, facial dysmorphism, joint hypermobility/dislocations, scoliosis, thoracic deformity, progressive hearing loss, umbilical hernia, and hypodontia.
Pseudomonas aeruginosa is an important cause of infections in hospitalized paediatric patients, which can prolong hospital stays, increase medical care costs, and increase morbidity and mortality. The aim of this study was to describe the molecular characteristics of carbapenem-resistant P. aeruginosa (CR-PA) isolates obtained from paediatric patients, along with their clinical data, infection type, treatment, and outcome. From January 2018 to March 2020, 65 P. aeruginosa isolates were prospectively collected, and carbapenemases were detected. The genes mexR, nalC, nalD, and oprD were amplified, sequenced, and analysed. The sequence types (STs) were determined by Multilocus sequence typing. Clinical information on the origin, evolution, treatment, and outcome of the infections was collected. Most isolates (81.6%, n = 53) were carbapenemase-negative; 18.4% (n = 12) were carbapenemase producers, with IMP being the most common (7/12). In the sequences of the mexR, nalC and nalD genes, 25% (n = 16), 8.5%(n = 6), and 10.6%(n = 7), respectively, presented modifications in the open reading frame, and stop codons were observed in 17.3% of mexR and 2.1% of nalD sequences. Premature stop codons were present in 70.6% of the oprD sequences, and frameshift mutations were observed in 75.5%. The isolates were distributed among 35 ST; ST348 (16.9%, n = 11), ST309 (12.3%, n = 8), and ST389 (10.8%, n = 7) were the most frequent. High-risk clones (HRC) including ST358, ST309, ST389, ST395, ST234 and ST11 were detected. A total of 92% (n = 60) of patients with CR-PA had underlying health conditions, the most frequent being congenital disorders. The most common empirical therapy was a combination of meropenem and an aminoglycoside or colistin (52.6%, n = 34), while among definitive treatments, monotherapy was used in 67.7% of patients, and 29.2% received a two-drug combination. The complications were associated with mortality (RR = 2.5, p < 0.0001). A total of 89.2% of infections were hospital-acquired. Modification of the porin OprD was the main mechanism of carbapenem resistance among P. aeruginosa isolates; however, carbapenemase-producing strains were observed, mainly from the imipenemase (IMP) family. 60% of the isolates belonged to STs, considered HRC. Of the clinical variables analysed, only the presentation of complications was associated with mortality.
Background:Pediatric lupus nephritis (LN) remains a major cause of morbidity and mortality, yet data from Latin American populations are limited. This study aimed to describe the clinical, laboratory, and histopathological characteristics of pediatric LN and identify prognostic factors associated with renal replacement therapy (RRT). Methods:We conducted a retrospective cross-sectional study including patients <18 years of age with LN diagnosed between 2020 and 2024 at a national referral center in Mexico. Demographic, clinical, immunological, histopathological, and therapeutic variables at diagnosis were analyzed. Multivariable logistic regression was performed to identify predictors of RRT. Results:Eighty patients were included (83% female; mean age 15.1 ± 2.8 years). Median proteinuria was 41 mg/m²/h; hematuria and leukocyturia were present in 46% and 26% of patients, respectively. All patients were ANA positive, with frequent hypocomplementemia and elevated anti-double-stranded DNA titers. Among biopsied patients, class IV was the most common histological subtype (60%). Proliferative forms were associated with reduced glomerular filtration rate (<90 mL/min/1.73 m²; p = 0.012) and higher activity index scores (p = 0.04), while chronicity indices were low. Fifteen patients (18.8%) required RRT, and mortality was 6.25%. In multivariable analysis, hypoalbuminemia (<2.5 g/dL) was independently associated with RRT (OR 6.04; 95% CI 1.33-27.50; p = 0.020). Conclusions:This study represents one of the largest pediatric LN cohorts reported from Mexico. Proliferative forms were associated with greater inflammatory activity and impaired renal function at diagnosis. Hypoalbuminemia emerged as a simple and accessible biomarker for early risk stratification of severe renal outcomes.
This is a summary of the original article “Systemic Treatments in Moderate-to-Severe Atopic Dermatitis in Pediatric Patients up to 12 Years of Age: Real-World Treatment Outcomes from the PEDISTAD Registry.” Atopic dermatitis (AD, or eczema) is a chronic, relapsing skin disease that can cause intense itching and negatively affect the quality of life of patients and their families. An additional burden can be the occurrence of atopic comorbidities, such as asthma, food allergies, or allergic rhinitis (hay fever). This summary of research provides an overview of a previously published article reporting on 3-year results from the PEDISTAD study, a real-world, observational study of patients < 12 years of age with moderate-to-severe AD who received AD treatment with dupilumab, methotrexate, and/or cyclosporine. The results showed that patients treated with dupilumab had greater improvements in AD signs (extent and severity of AD) and symptoms (such as itch) compared with patients treated with methotrexate and cyclosporine. The improvements in quality of life for patients and their families were greater for children in the dupilumab and methotrexate groups than for those in the cyclosporine group. In addition, children treated with dupilumab had fewer side effects and were more likely to continue treatment.
