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Biomedical subjects

J Carnicer

Publications and source records attributed to J Carnicer.

9 recordsLinked to original sources
PubMed2001

Prevalence of coeliac disease in Down's syndrome.

OBJECTIVE: During the past decade, it has been shown that the association between Down's syndrome and coeliac disease is relatively frequent Prevalence rates of coeliac disease in patients with Down's syndrome reported by different authors are significantly higher than those found in the general population. The main purpose of this study was to assess the prevalence of coeliac disease in a series of subjects with Down's syndrome from our geographical area. DESIGN: A cross-sectional study. SETTING: Outpatient paediatric clinics of acute-care teaching hospitals in Barcelona, Spain. PARTICIPANTS: A total of 284 persons with Down's syndrome aged between 1 and 25 years were included in the study. In all cases, serum concentrations of antigliadin antibodies (AGAs) (Pharmacia CAP system enzyme-linked immunosorbent assay), antiendomysium antibodies (AEA) (indirect immunofluorescence) of immunoglobulin (Ig)A class or IgG class in cases of IgA deficiency were determined. Jejunal biopsy was offered to all patients with AEA positivity and to those with suggestive clinical manifestations of coeliac disease. In all patients, a clinical study was made to evaluate the presence and time-course of symptoms related to coeliac disease. MAIN OUTCOME MEASURES AND RESULTS: In 18 of the 284 subjects with Down's syndrome, aged between 2 and 15 years, coeliac disease was confirmed by jejunal biopsy. Accordingly, the minimum prevalence rate of coeliac disease was of 6.3%. Ninety-four percent (17/18) and 78% (14/18) of patients with the association Down's syndrome and coeliac disease showed AEA and AGA positivity, respectively. Fifteen patients with the association coeliac disease and Down's syndrome (15/18) showed clinical manifestations compatible with coeliac disease, with a predominance of intestinal symptoms (8/18) over those with atypical or extra-intestinal forms (7/18). Three patients had clinically silent forms of coeliac disease (3/ 18). CONCLUSIONS: Measurement of serum concentrations of AEA should be added to the list of screening tests for coeliac disease in patients with Down's syndrome, otherwise definite association between both diseases may pass unnoticed and diagnosis of coeliac disease be considerably delayed.

Adolescent↗
PubMed1999

Serological markers and HLA-DQ2 haplotype among first-degree relatives of celiac patients. Catalonian Coeliac Disease Study Group.

Serologic markers, HLA-DQ2 haplotype, and clinical features suggestive of celiac disease were studied to assess their diagnostic value in a multicentric study to detect celiac disease in 675 first-degree relatives of 227 celiac probands. Serum IgA-class anti-endomysium and IgA-class anti-gliadin antibodies were positive in 5.8% and 1.9% of relatives, respectively. HLA-DQ2 haplotype was present in 64% of relatives, and the overall rate of celiac disease diagnosed by intestinal biopsy was 5.5%. The frequency of HLA-DQ2 in the celiac patients and controls was 93% and 18%, respectively. The most frequent clinical features--diarrhea, anemia, food intolerance, and growth retardation--were not present in one third of the celiac disease relatives. We conclude that the assessment of IgA-class anti-endomysium antibodies alone seems a reasonable approach for screening celiac disease in relatives and cannot be replaced by an accurate clinical anamnesis. HLA-DQ2 haplotype may identify the population with a high genetic susceptibility to celiac disease.

Adult↗
PubMed1993

Treatment of chronic hepatitis B in children with recombinant alfa interferon. Different response according to age at infection.

The objective of this study was to investigate the possibility of predictive factors of response to treatment with interferon in children with chronic hepatitis B virus infection. We analyzed the influence on the response rate of age, sex, mode of acquisition of infection, severity, and duration of disease in 16 children with chronic hepatitis B treated with 3 MU of recombinant alpha-interferon 2b three times a week for 6 months. Six months after the end of treatment, eight patients (50%) had cleared HBV DNA, seroconverted to anti-HBe and normalized serum transaminase values. Response was significantly higher in those whose serum transaminase levels were > 100 IU/liter before treatment (70%) and those infected after birth (72%) compared with those with lower serum transaminase levels (16%) and those infected at birth (7%). Our findings indicate that a 6 month course of low dose interferon (3 MU) is highly effective in children with horizontally transmitted chronic hepatitis B virus infection, but noneffective in children infected at birth.

Adolescent↗
PubMed1984

[Diagnosis of hypertrophic stenosis of the pylorus by ultrasonography].

Ten infants with a clinical history of hypertrophic pyloric stenosis were examined sonographically. Upper gastrointestinal series were also performed on these patients. The authors comment on the findings, and the value of ultrasound examination in the diagnosis of hypertrophic pyloric stenosis.

Child, Preschool↗
PubMed1981

[Neonatal intrahepatic cholestasis and alpha-1-antitrypsin deficiency (author's transl)].

A case of alpha-1-antitrypsin deficiency in an 11 month-old Pi ZZ infant is reported. The patient exhibited intrahepatic cholestasis in the first months of life, with jaundice and hepatomegaly. Liver biopsy confirmed the diagnosis and showed the presence of hepatic fibrosis. Pi phenotypes, serum levels of alpha-1-antitrypsin, and symptoms in the family of the patient are reported. Clinical, biochemical and pathologic findings in liver disease in alpha-1-antitrypsin deficiency are discussed.

Biopsy↗