ABSTRACT
Celiac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronic inflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detect EmA in 215 patients with seropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 (9 females) were found positive for EmA while only 7 were positive for EmA in control group, EmA are significantly more frequent in RA patients than in HBD (5.58% vs. 0.28%, p < 10-6; 95% CI [8.21-54.01]; odds ratio: 21.05). In RA patients, the frequency of EmA was not statistically different between males and females. The frequency of EmA was significantly higher in female patients than in healthy females (5.32% vs. 0.40%, p < 10-3). Patients with RA can be considered as a high-risk group for CD based on the high frequency of EmA positivity observed in our study.
Subject(s)
Arthritis, Rheumatoid , Celiac Disease , Male , Humans , Female , Celiac Disease/diagnosis , Celiac Disease/epidemiology , Retrospective Studies , Immunoglobulin A , Autoantibodies , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/epidemiologyABSTRACT
Type 1 Insulin-like Growth Factor Receptor(IGF1R) plays a fundamental role in normal growth and development. Its disruption is usually characterized by severe intrauterine and postnatal growth retardation, microcephaly and neurodevelopmental delay.The efficacy of recombinant human growth hormone treatment remains a challenge for children with IGF1 resistance and pathogenic mutations of IGF1R, with limited data in patients carrying the most severe form of IGF1R defect, the ring chromosome 15. SUBJECT AND METHOD: We tested a high dose of rhGH in a new patient with ring chromosome 15, as confirmed by karyotype and CGH array. We performed a systematic review, and all published r(15) syndrome cases treated by growth hormone(GH) up to April 2023 were searched, and their response to GH therapy was recorded and summarized. RESULTS: Twelve patients with ring chromosome 15 received GH therapy according to a literature review. We expand the spectrum by the 13th case treated by GH, and we report an impressive improvement in intellectual performance and progressive catch-up growth after 5 and 20 months of follow-up. By introducing our new case in the analysis, the sex ratio was 3:10, and GH therapy was started at the age of 5.5 (3/9.4) (years) for an age of diagnosis of 4.75 (1.3/9.5) (years). The height before GH therapy was -5.1(-5.9/-4.1) SDS. The median duration of treatment was 1.7(0.9/2) (years), with a median height gain of 1(0.3/1.8) SDS and an improvement in growth velocity of 4.1(2.8/5.3) (cm/year). CONCLUSION: GH seems to be effective for r(15) syndrome patients with short stature.
Subject(s)
Dwarfism , Human Growth Hormone , Ring Chromosomes , Child , Humans , Child, Preschool , Human Growth Hormone/therapeutic use , Growth Hormone , Growth Disorders/drug therapy , Growth Disorders/genetics , Dwarfism/drug therapy , SyndromeABSTRACT
Acquired hemophilia A (AHA) is a potentially life-threatening hemorrhagic disorder with many etiologies. We report the first case in the literature describing the association of AHA with adult-onset Still's disease (AOSD).
