Biomedical subjects

Rolando Cimaz

Publications and source records attributed to Rolando Cimaz.

27 records · Page 2Linked to original sources

PubMed2003

An update on Kawasaki disease.

Kawasaki disease (KD) is a febrile systemic vasculitis complicated by coronary and peripheral arterial aneurysms in 20-35% of untreated patients. It is reported as the commonest cause of acquired heart disease in children in developed countries, and may be a risk for adult ischaemic heart disease. Although KD has been reported all over the world, it is overexpressed among Asian populations, especially Japanese. The disease pathogenesis is still unknown and several theories have been proposed, including the possibility of an infection by a toxin-secreting microorganism and of a superantigen-driven process. Despite numerous efforts there is still no diagnostic test available for KD, and the diagnosis is based on clinical criteria after the exclusion of other diseases presenting with high persistent fever. Prompt diagnosis is critical, since the early administration of intravenous immunoglobulins and aspirin reduces the rate of coronary abnormalities to less than 5% of patients.

Child↗

PubMed2003

Incidence and spectrum of neonatal lupus erythematosus: a prospective study of infants born to mothers with anti-Ro autoantibodies.

OBJECTIVE: Neonatal lupus erythematosus (NLE) is characterized by complete congenital heart block (CCHB), cutaneous rash, and laboratory abnormalities in infants born to mothers with autoantibodies directed against SSA/Ro, SSB/La, or both. We carried out a prospective study to determine the incidence of individual NLE features. STUDY DESIGN: The study was performed in two centers: Toronto, Canada, and Milano, Italy. Mothers had been referred for the presence of anti-SSA/Ro autoantibodies, regardless of their diagnosis. All the children were seen at least once within the first 6 months of life for clinical evaluation and laboratory testing. The study group consisted of 128 infants born from 124 pregnancies in 112 women with anti-Ro antibodies with or without anti-La antibodies. RESULTS: There were two cases of CCHB for an overall percentage of 1.6%. Twenty-one children (16%) developed cutaneous NLE. Laboratory testing showed hematologic abnormalities in 27% of the babies and elevation of liver enzymes in 26%. CONCLUSIONS: Mothers with autoimmune diseases and anti-Ro antibodies are at risk of delivering a child with NLE but at a low risk of delivering a child with CCHB. Infants born to mothers with anti-Ro or anti-La antibodies should be monitored for other features of NLE in addition to CCHB.

Adolescent↗

PubMed2003

Bone status evaluation with calcaneal ultrasound in children with chronic rheumatic diseases. A one year followup study.

OBJECTIVE: To evaluate at baseline and after one year the bone status in children with chronic rheumatic diseases (CRD) using quantitative ultrasound techniques. METHODS: We evaluated bone status in 67 children, 52 female, 15 male, age range 2.80 to 18.10 years; 46 juvenile idiopathic arthritis, 11 juvenile dermatomyositis, and 10 systemic lupus erythematosus. Twenty-seven of 67 patients were taking only nonsteroidal antiinflammatory drugs (NSAID), 11 were given NSAID and methotrexate (MTX), 15 were also receiving steroids (prednisone), and 14 patients were given steroids and alendronate. Broadband ultrasound attenuation (BUA) by bone was determined at the left calcaneus using two 12.5 mm diameter, 1 MHz transducers mounted in hand-held calipers linked to a pediatric contact ultrasound bone analyzer. RESULTS: At baseline in the whole patient group mean BUA values and Z scores were significantly lower than in controls: 41.84 +/- 21.64 vs 61.69 +/- 17.42 dB/MHz (p < 0.001); Z score -0.91 +/- 1.07 vs 0.09 +/- 0.62 in controls (p < 0.001). At one year followup in the patient group BUA values were significantly increased compared to baseline (BUA 46.43 +/- 21.51 dB/MHz; p = 0.002); no significant difference was found in Z score. The 15 children receiving steroids in addition to NSAID and MTX showed a decrease in BUA value at one year (NS), while Z scores were significantly reduced compared to baseline (-1.45 +/- 1.40 vs -1.08 +/- 1.11; p < 0.05). The 14 patients in the group receiving NSAID and MTX who also received alendronate showed significant increases in BUA (56.93 +/- 19.32 vs 44.21 +/- 15.67; p < 0.001) and Z score (-0.87 +/- 1.19 vs -1.56 +/- 0.82; p < 0.002). CONCLUSION: Contact ultrasound bone analysis at the calcaneus is a useful tool in the assessment and monitoring of bone status in children with CRD.

Adolescent↗

PubMed2003

Remission in juvenile chronic arthritis: a cohort study of 683 consecutive cases with a mean 10 year followup.

OBJECTIVE: As continuity of care in our institution allows longterm followup studies, we reviewed the files of all consecutive patients with juvenile chronic (idiopathic) arthritis (JCA) followed since 1970 to establish the frequency of remission. METHODS: Charts of all patients with JCA were reviewed. Relevant variables were entered into a customized database. The presence of remission (lack of signs of disease activity in the absence of antirheumatic therapy for at least 6 mo) during the disease course and at the last visit was assessed. RESULTS: The cohort included 683 patients, 463 females and 220 males. According to the disease onset, 420 had oligoarticular, 108 polyarticular (23 rheumatoid factor positive), and 88 systemic disease; 67 had a juvenile spondyloarthropathy (SpA). For all 4 categories the mean followup period was about 10 years. At the last visit 224 cases were in remission (32.8%). Remission rate was scarcely influenced by age at disease onset, but differed in the different disease categories. Of the total group of 683 patients, 153 (22.4%) were lost to followup (no control for at least 2 years). For all 4 categories the remission rate at the last visit was higher in patients who had been lost to followup: 42.3% versus 29.0% for systemic onset JCA, 20.8% versus 16.5% for polyarticular onset JCA, 44.7% versus 33.6% for pauciarticular onset JCA, and 66.7% versus 26.8% for juvenile SpA. The probability of attaining remission decreased in proportion to delay in entering the tertiary care center (from 35.7% to 22.8%). The rate of remission reached its peak after 5-10 years of followup, after which the trend reversed. CONCLUSION: Childhood arthritis achieved remission in only about one-third of our cases, with differences among disease categories based on the diagnosis.

Adolescent↗

PubMed2002

Neonatal lupus.

Congenital heart block (CHB), defined as an atrioventricular block diagnosed in utero, at birth, or within the neonatal period (0-27 d after birth), is a rare disorder closely linked to transplacental transport of maternal antibodies anti-Ro/SSA and anti-La/SSB. These antibodies may induce a myocarditis, or interact directly with calcium channel proteins with disturbance of transmembrane signaling at the level of the conduction tissue, or interfere with apoptosis. Depending on the severity of the process, the fetus may die in utero or a few days after birth or survive to the perinatal period and have a near-normal life; in most survivors a pace-maker must be implanted. Skin lesions, haematological disorders, and hepatic cholestasis are other transient clinical features of the syndrome. Sinus bradycardia and QT interval prolongation may be observed as well in babies born from anti-Ro/SSA positive mothers. The risk of recurrence of complete block ranges from 10-17%. Most of the mothers are asymptomatic at delivery and are identified only by the birth of an affected child. Their long-term outcome generally is more reassuring than previously assumed and arthralgias and dry eyes are the most common symptoms. A standard therapy for blocks detected in utero still does not exist. The prevalence of complete CHB in newborns of anti-Ro/SSA positive women and with known connective-tissue disease was 2%. Serial echocardiograms and obstetric sonograms, performed at least every 2 wk starting from the 16 wk gestation, are recommended in anti-Ro/SSA positive pregnant women.

Antibodies↗

PubMed2002

Neonatal lupus manifests as isolated neutropenia and mildly abnormal liver functions.

Neonatal lupus is characterized by typical clinical features and the presence of maternal autoantibodies. Mothers can have systemic lupus erythematosus (SLE) or Sjögren's syndrome, but are commonly not affected with any clinical disease. The major clinical manifestations in the infants are cardiac, dermatological and hepatic with rare instances of hemolytic anemia, thrombocytopenia or neutropenia. We describe an infant born to a mother with anti-Ro and anti-La, who had neutropenia and mildly abnormal liver functions without other major clinical features of neonatal lupus such as cardiac or dermatological manifestations. Neutropenia improved as maternal antibody was metabolized. Antibodies from both the infant and mother bound intact neutrophils, and this binding was inhibited by 60 kDa Ro. These data imply neutropenia may be an isolated manifestation of neonatal lupus. We studied the anti-Ro antibodies of 2 other mothers who gave birth to infants with complete congenital heart block and neutropenia. Their sera also bound neutrophils. Because healthy infants do not commonly undergo complete blood counts, the incidence of neutropenia among infants of anti-Ro-positive mothers may be much higher than previously recognized. Furthermore, although other factors may contribute, these data suggest that anti-60 kDa Ro is directly involved in the pathogenesis of neutropenia.

Adult↗

PubMed2002

Changes in markers of bone turnover and inflammatory variables during alendronate therapy in pediatric patients with rheumatic diseases.

OBJECTIVE: Alendronate treatment for 12 months in pediatric patients with rheumatic diseases and secondary low bone mass was reported to result in a substantial increase in bone mineral density (BMD). In this study, we evaluated the changes in bone metabolism and disease activity markers in 45 patients ages 5 to 18 years (31 female, 14 male) with rheumatic diseases treated with alendronate for 12 months. METHODS: Variables analyzed included demographic and anthropometric data, biochemical markers of bone metabolism, disease activity indexes, and BMD values. For all variables, the differences between levels at baseline and at 12 months were calculated; correlations between the variables and between the BMD variation over 12 months and baseline levels of the different variables were also evaluated. RESULTS: There was a statistically significant decrease of both bone resorption and bone formation markers over the 12 month treatment period. By contrast, no disease activity index changed significantly over one year. BMD Z score change over one year did not correlate with erythrocyte sedimentation rate, matrix metalloproteinase-3, interleukin 6, or C-reactive protein variations over the same period. CONCLUSION: These results support the conclusion that alendronate treatment is accompanied by a reduction of bone turnover in pediatric patients and that the observed BMD increase is not secondary to a reduction of inflammatory activity.

Adolescent↗

PubMed2002

Association of low bone mass with vitamin d receptor gene and calcitonin receptor gene polymorphisms in juvenile idiopathic arthritis.

OBJECTIVE: To compare bone density with polymorphisms in the calcitonin receptor (CTR) and vitamin D receptor (VDR) genes in 50 patients with juvenile idiopathic arthritis and 80 matched controls. METHODS: Bone mineral density (BMD) was measured by dual energy x-ray absorptiometry at the lumbar spine. Genomic DNA was isolated from EDTA blood samples by standard procedures. Polymerase chain reaction was performed using genomic DNA and 100 pmol of each oligonucleotide primer for VDR and CTR genes. Products from genomic PCR were digested by Alu I enzyme for CTR polymorphism and Fok I enzyme for VDR polymorphism. RESULTS: In the total population, higher prevalence of CC genotype (41.5%) for the CTR gene and FF genotype (59.8%) for the VDR gene was found, in agreement with data for Caucasian populations. No significant differences in distribution of CTR and VDR genotypes were observed between patients and controls. However, patients with TT genotype had lumbar BMD (L-BMD) that was lower in comparison to those with CC genotype (p = 0.04). For VDR gene polymorphism, we observed that patients with ff genotype had lower L-BMD in comparison with FF genotype (p = 0.02). Patients with heterozygosity for the 2 genotypes showed intermediate L-BMD. The differences in L-BMD among these groups did not seem to be related to corticosteroid therapy. CONCLUSION: Our data suggest that patients with particular VDR and CTR genotypes may be at higher risk to lose bone mass.

Absorptiometry, Photon↗

PubMed2002

Osteoporosis in childhood rheumatic diseases: prevention and therapy.

Bone mass is primarily genetically determined, but exogenous factors also play a major role. The prevention of osteoporosis can start from childhood, and optimal achievement of peak bone mass during childhood and adolescence is important in order to minimize the future risk of fracture. Chronic inflammatory diseases can have a detrimental effect on bone mass by means of several mechanisms. Different diagnostic methods for detection and monitoring of osteoporosis are in use or under investigation. The role of calcium and vitamin D supplementation for the prevention and treatment of osteoporosis associated with paediatric rheumatic diseases remains to be established. New treatments such as bisphosphonates and calcitonin are now available, although their use for paediatric patients has been limited.

Adult↗