Long-term experience of bosentan for treating ulcers and healed ulcers in systemic sclerosis patients.

OBJECTIVES: Our objective was to evaluate the efficacy and tolerability of bosentan in patients with systemic sclerosis (SSc) who develop ulcers and healed ulcers. We also wanted to analyse the effect of bosentan on other skin and general outcome measurements. METHODS: In the present prospective, observational, non-controlled study, we followed all patients with SSc who started treatment with bosentan for ischaemic ulcers and healed ulcers from January 2003 to June 2006 in our centre. We recorded skin and general outcome measurements at baseline and at 6 months. RESULTS: Fifteen patients were included. After a median follow-up of 24.7 months (range: 4-36), there was a significant decrease in the number of ulcers. A trend towards efficacy was seen in the number of healed ulcers and in the severity of ulcers. No significant effect was seen in other skin and general outcome measurements. Toxicity related to bosentan included mild transitory events and one toxic hepatitis. CONCLUSION: Bosentan may be a safe long-term alternative for treating the recurrence of skin ulcers and healed ulcers in SSc patients.

[Recommendations for the use of methotrexate in patients with juvenile idiopathic arthritis]. / Recomendaciones para el uso de metotrexato en pacientes con artritis idiopática juvenil.

OBJECTIVES: To develop a consensus document of recommendations for the use of methotrexate (MTX) in patients with juvenile idiopathic arthritis (JIA). MATERIAL AND METHOD: A group of eleven experts proposed several clinical questions on the use of MTX in patients with JIA. A systematic review was conducted and the evidence and recommendations for each question were extracted. The results were discussed and validated by the experts in a work session to establish the final recommendations. RESULTS: MTX is recommended as the first drug for inducing remission in JIA, and its indication should be made according to the clinical category of the patient. Prior to treatment, it is recommended to perform a complete blood count, including white cells, levels of liver enzymes, serum creatinine, and other analytical parameters according to specific risk factors. Treatment should be initiated with a dose of 10-15 mg/m(2)/week. In cases of uveitis or polyarthritis, an initial dose of 15 mg/m(2)/week should be considered. For a better bioavailability and tolerability, it is preferable to administer MTX parenterally if the dose is ≥15 mg/m(2)/week. It is necessary to periodically perform an analytical monitoring of the patient and to assess possible alterations in liver enzymes to make changes if necessary. Combinations with biological agents may be necessary, as well as the concomitant addition of folic or folinic acid. CONCLUSIONS: This document describes the main recommendations for the appropriate use of MTX in JIA patients, according to scientific evidence and clinical experience.

[Focal myositis: report of a case in pediatric age and review of the literature]. / Miositis focal: a propósito de un caso en edad pediátrica y revisión de la literatura.

INTRODUCTION AND CLINICAL CASE: We present the case of a 13 years old boy with a year-old history of a painful tumour on the external and distal third of the right thigh. The imaging tests suggested a soft tissue tumour but the muscle biopsy revealed the typical findings of focal myositis. Focal myositis is a benign inflammatory pseudotumour of the skeletal muscle recognized as a distinct clinicopathological entity, but there have been descriptions of the cases initially diagnosed as focal myositis that have latter behaved as evident polymyositis. We have not found laboratory data to support a diagnosis of polymyositis in our patient. CONCLUSION: Although focal myositis is considered a self-limited disease, we believe a long-term clinical and biochemical follow-up is warranted, to confirm the absence of recurrence signs and/or the development of a generalized myopathy.

Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects.

We aimed to investigate the epidemiological determinants, clinical features, and genetic pattern of FOP in our country by evaluating the entire population of patients identified according to a combination of methods. To achieve this, 24 individuals were confirmed as FOP cases, 17 of whom were alive at the end of 2011 (point prevalence=0.36 × 10(-6)). The gender distribution (male/female ratio=13/11) and the concurrent range of ages (from 4 to 53 years; mean ± SD: 30.2 ± 13.8) are in agreement with similar reports. Twenty-one (87.5%) had characteristic congenital malformations of the big toe, and short thumbs were found in 65.2% of cases. In addition, other skeletal malformations such us fusion of the posterior elements of the cervical spine (89.0%), knee osteochondromas (71%), scoliosis (54.5%), and short and broad femoral neck (52.6%) were observed. All had developed mature ossicles of heterotopic bone in typical anatomic and temporal patterns, ranging in number from 1 to 17 (9.5 ± 3.9). Age at appearance of first ossifying lesion varied from 3 months to 15 years. Mean age at diagnosis was 7.3 ± 5.1 years and the average delay in reaching the correct diagnosis after the onset of heterotopic ossification was 2.7 years (range=0-12 years). Biopsy of the pre-osseous lesions was performed in 11 of 20 (55.0%), providing no useful information for the diagnosis of FOP. Seven of 18 (38.9%) reported some hearing loss, and 5 (27.8%) experienced diffuse thinning of the hair or were bald. No patient had relatives with a typical FOP clinical picture. Fourteen of the 16 cases which were genetically investigated displayed the single heterozygous mutation c.617G>A in exon 4 of the ACVR1 gene. One of the two patients who did not present with the canonical ACVR1 mutation showed a heterozygous mutation c.774G>C in exon 5 leading to the substitution of Arginine 258 with a serine. The other patient had a heterozygous c.774G>T substitution in exon 5 leading to the same amino acid change (p.Arg258Ser). These two patients had only nonspecific abnormalities of the great toe, lacked the typical anatomic and developmental pattern of heterotopic ossification, and shared a trend toward uncommon clinical features. These results provide new insight on the epidemiological and clinical traits of FOP, reinforcing the notion of its worldwide homogeneity. The molecular characterization of ACVR1 sequence variation will contribute to the understanding of the genetic profile of this devastating disease in different geographical areas.

[Selective deficiency of IgA in autoimmune diseases]. / Deficiencia selectiva de IgA en enfermedades autoinmunes.

A selective IgA deficiency (SD IgA) appears in a 0.15% of the population, being more frequent in autoimmune diseases. We present here eight patients presenting this association who were diagnosed at the Rheumatology Department during a period of eight years. Five patients suffered Juvenile Chronic Arthritis (JCA), two patients Rheumatoid Arthritis (RA) and one Systemic Lupus Erythematous (SLE). There were to cases of familiar deficiency. There was not a relationship between SD IgA and treatments used. There is an important association between SD IgA and JCA (4.27% prevalence). In the other two conditions, however, the association could be casual.

DR, C4, and Bf allotypes in juvenile rheumatoid arthritis.

HLA-DR, C4, and Bf typing was performed in 99 patients with juvenile rheumatoid arthritis (JRA). DR1 was found with higher frequency in patients with polyarticular JRA than in controls (P less than 0.05). DR3 was more common in patients with fever and/or rash than in those without these manifestations (P less than 0.05). A significant negative association between JRA and C4A6 (P less than 0.05), C4BQ0 (P less than 0.0005), and BfF1 (P less than 0.05) was found. It is possible that a disequilibrium between DR and C4/Bf genes plays a role in the pathogenesis of JRA.