Maria Inez Machado Fernandes

Prevalence and Demographic Characteristics of Celiac Disease Among Blood Donors in Ribeirão Preto, State of São Paulo, Brazil

Celiac disease (CD) is an underdiagnosed disease occurring in different clinical forms. This study aimed to determine the prevalence of CD among blood donors from Ribeirão Preto, Brazil, and to study some demographic characteristics of celiac patients. Blood samples from 3000 blood donors were tested for the presence of tissue transglutaminase antibody and positive samples were tested for endomysial antibody. Donors positive to both tests were referred for clinical evaluation and for a jejunal biopsy. Twenty-four samples were moderately/strongly positive for transglutaminase, with 9 of them being endomysial negative and 15 positive. Of the 13 biopsies obtained from 12 females and 1 male, 1 was classified as Marsh grade IV, 4 as grade III, 2 as grade II, 4 as grade I, and 2 as grade 0. Estimated prevalence was therefore 1:273 (0.33%; 95% CI, 0.127 to 0.539). The 1:273 estimated prevalence of CD detected indicates that the disease is not rare in Brazil. The frequency was higher among females and among individuals of European descent, with a significantly higher frequency for a family history of digestive tract cancer or epilepsy.

Prevalence of chronic constipation in children at a primary health care unit

OBJECTIVE To study the frequency of chronic constipation in childhood at a Primary Health Care Unit and to observe its characteristics in this population. METHODS The sample consisted of 313 children aged between one and 10 years treated at the Centro de Saúde Escola, in the district of Tibério, in the town of Ribeirão Preto. Among these, 84 children with chronic constipation were selected. The chi-squared test was used to compare the groups of constipated and nonconstipated children (p=0.01). RESULTS The prevalence of chronic constipation was 26.8%. In the group of chronic constipation, 85.7% of the children had hardened stools, 25% showed reduction in fecal mass, 17.9% had an interval between evacuations longer than 2 days (constipated children), 14.3% revealed fecal soiling and 21.4% presented blood in stools. CONCLUSION The prevalence of chronic constipation was high and the interval between evacuations was as an important diagnostic criterion for the selection of constipated children.

Impairment of bone mass development in children with chronic cholestatic liver disease

Objective  To analyse aspects of mineral metabolism, bone mineral density (BMD), bone remodelling activity and serum IGF‐1 levels in children with chronic cholestatic disease (CCLD).

Human leukocyte antigen class II alleles in white Brazilian patients with celiac disease.

Background Celiac disease (CD) is a permanent gluten intolerance disorder characterized by malabsorption, intestinal mucosa villus atrophy, and crypt hyperplasia. Clinical and histologic features improve in persons consuming a gluten free diet. The pathogenesis of CD involves environmental, genetic, and immunologic factors. Methods The frequencies of human leukocyte antigen (HLA) class II alleles were evaluated in white Brazilian patients who had CD and compared with those observed in healthy individuals from the same geographical area (Ribeirão Preto, São Paulo) and of similar ethnic background. Twenty-five patients with CD, 11 females and 14 males, and 91 control individuals were studied. The HLA class II alleles were typed using amplified DNA hybridized with sequence-specific primers. Statistical analysis was performed using the two-tailed Fisher exact test. The relative risk (RR), etiologic fraction (EF), and preventive fraction (PF) were also estimated. The EF represents the attributable risk for the development of CD at the population level, whereas PF represents the protective risk. Results The frequency of the HLA-DRB1*03, HLA-DRB1*07, and HLA-DQB1*02 alleles was significantly increased in patients. The RR conferred by these alleles was 5.35, 7.15, and 10.6, respectively, and the EF was 48.7%, 44.7%, and 76%, respectively. The frequency of HLADQB1*06 alleles was significantly decreased in CD patients, conferring an RR of 0.08 and a PF of 48%. Conclusions The results show that HLA-DRB1*03, HLA-DRB1*07, and HLA-DQB1*02 alleles conferred susceptibility to CD in Brazilian patients. In contrast, HLADQB1*06 alleles conferred protection against development of the disease.

Lower esophageal sphincter reacts against intraabdominal pressure in children with symptoms of gastroesophageal reflux.

Studies of the effect of increased intraabdominal pressure on the lower esophageal sphincter (LES) are controversial. This study aimed to verify the LES competence against extrinsic abdominal compression in children with and without symptoms of gastroesophageal reflux (GER). Eighteen children ages 6–20 months were evaluated, 11 of them with symptoms of GER (group I) and 7 without symptoms of GER (group II). Manometry of the esophagus, LES, and stomach was performed in all children who underwent extrinsic abdominal compressions of 20, 40, 60, and 80 mm Hg. The pressure gradients in the esophagus, LES, and stomach were measured. The pressure gradient showed a significant difference only in the esophagus after extrinsic abdominal compressions of 60 mm Hg [group I median (range): 7.6mm Hg (2.7–20.0) vs group II: 2.8 mm Hg (1.4–9.6), P < 0.05], and 80 mm Hg [group I median (range): 7.7 mm Hg (3.7–28.9) vs group II: 3.8 mm Hg (1.2–21.1), P < 0.05]. It was concluded that the competence of LES to contain increased intraabdominal pressure might be an important factor in the pathophysiology of GER in children.

Apresentação clínica de doença celíaca em crianças durante dois períodos, em serviço universitário especializado

BACKGROUND Several studies have demonstrated changes in the forms of clinical presentation of celiac disease in children and adults, with an increased occurrence of atypical forms. AIM To determine this fact in Clinical Hospital, Ribeirão Preto, SP, Brazil. METHODS Celiac patients were studied over two different periods of time, from January 1978 to December 1987 (group 1 = G1) and from January 1988 to December 1997 (group 2 = G2). Time of disease, age at diagnosis and nutritional status and clinical forms were investigated. The typical form was considered to be present if the patient had at least two of the following signs/symptoms: diarrhea, abdominal distention, and weight loss, associated or not with others. RESULTS Clinical forms (%) - G1: typical 57.14 and atypical 42.85. G2: typical 55.18 and atypical 44.82. Median age at diagnosis: 23 months (G1) and 21 months (G2). Interval between the onset of symptoms and the diagnosis: 13 months (G1) and 11 months (G2). Gomez nutritional status G1: Eutrophy = 23.8, DI = 47.61, DII = 23.8 and DIII = 4.76. G2: Eutrophy = 20.68, DI = 48.27, DII = 27.58 and DIII = 3.44. Waterloo G1: Eutrophy = 23.8, Wasting = 14.28, Stunting = 28.57 and Chronic = 33.33. G2: Eutrophy = 20.68, Wasting = 13.79, Stunting = 34.48 and Chronic = 31.03. No statistically significant differences occurred between the groups for any of these parameters. CONCLUSIONS No change in the forms of presentation or remaining clinical characteristics of celiac disease occurred in our service. This may be due to the population characteristics or to differences among health services, or to different periods of observation.

Anorectal manometry in children with chronic functional constipation

BACKGROUND The anorectal manometry is a very utilized and well recognized examination in children with chronic functional constipation. The major manometric findings in these children are: anal hypotonia, anal hypertonia, paradoxal contraction of the external anal sphincter, decreased ability of internal anal sphincter to relax during rectal distension and alterations in rectal contractility, sensibility and compliance. AIMS To evaluate the anal basal pressure and the relaxation reflex before and after standard treatment for a better understanding of the physiopathologic mechanisms involved in pediatric chronic functional constipation. METHODS Anorectal manometry was performed before treatment on 20 children with chronic functional constipation aged 4 to 12 years and the results were compared to those obtained after standard treatment, with a good outcome. RESULTS There was a reduction in anal basal pressure after treatment, but no differences were detected between the anorectal manometries performed before and after treatment in terms of amplitude and duration of relaxation, residual pressure, latency time, or descent and ascent angle. CONCLUSIONS We conclude that the anal basal pressure decreased in children recovering from chronic functional constipation, but the standard treatment did not provide all the conditions necessary for the relaxation reflex of constipated children to return to the values described in normal children.

Avaliação econômica em saúde: triagem neonatal da galactosemia

This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate) from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns). The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33), characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.Este trabalho avalia a eficiencia da adicao do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidencia media estimada de galactosemia, de 1:19.984 recem-nascidos, no Estado de Sao Paulo, Brasil, este estudo desenvolve um modelo de analise de custo-beneficio, utilizando a relacao beneficio/custo (B/C), a taxa de juros de 9,25% ao ano para descapitalizacao dos resultados obtidos. Tambem se realiza uma analise de sensibilidade, em funcao da variacao da taxa de juros entre 0 e 20% e do intervalo de 95% de confianca da incidencia da galactosemia (1:7.494 a 1:59.953 recem-nascidos). A economia obtida com a melhora da saude das criancas doentes identificadas precocemente e superior aos custos (B/C = 1,33), caracterizando como eficiente a politica de adicao do exame neonatal para galactosemia no Teste do Pezinho. Quanto menor a taxa de juros vigente na economia, mais eficiente e a politica de triagem neonatal, nao considerados os custos sociais intangiveis evitados.

Adult-type hypolactasia: Clinical, morphologic and functional characteristics in Brazilian patients at a University hospital

Background: Adult-type hypolactasia (AH) is the most common form of disaccharidase deficiency in humans, with a prevalence that varies among ethnic groups. In Brazil, the few available studies suggest a high prevalence of this condition. The objective of this study was to determine the prevalence of AH in Brazilian patients at the Ribeirão Preto University Hospital, and to study its morphologic and functional expression. Methods: One hundred fifteen patients between 5 and 60 years undergoing upper gastrointestinal endoscopy were included. Mucosal biopsy specimens were obtained from the second portion of the duodenum. AH was defined by the disaccharidase activity (lactase/sucrase ratio) of the duodenal mucosa. The morphologic expression of lactase was studied by immunohistochemistry. Results: The mean age of the subjects was 28.8 ± 14.8 years. Seventy of the 115 subjects (60.8% prevalence) had AH by enzyme activity measurements. Milk drinking was common and similar in patients with and without AH. Among the patients, 91.3% of the nonwhite and 53.2% of the white individuals had hypolactasia (P = 0.002). Immunohistochemistry revealed the presence of lactase in 73.3% of individuals with normal lactase activity. Two different expression patterns were found in patients with AH. Conclusions: The prevalence of AH was high in our subjects and similar to that reported in other Brazilian studies. Hypolactasia was more common among nonwhites. Immunohisto-chemistry permitted the identification of two phenotypes of AH, the first characterized by the absence of both stainable lactase and lactase activity, and the second by the presence of stainable lactase without significant activity.

Estudo da freqüência de diabetes mellitus e intolerância à glicose em pacientes com fibrose cística

ABSTRACT OBJECTIVE: To evaluate the frequency of diabetes mellitus and glucose intolerance in patients with cystic fibrosis treated at the Pediatric Gastroenterology Service of HC-FMRP-USP. METHODS: A cross-sectional analytical study was conducted on a group of 25 patients with mucoviscidosis who were followed up at HC-FMRP-USP. Oral glucose tolerance tests (OGTT) were performed, with simultaneous determination of glycemia and insulinemia. Areas under the curve were obtained for glycemia (G) and insulinemia (I) and the I/G ratio was calculated and correlated with the duration of clinical manifestation and pancreatic exocrine function. RESULTS: Five patients presented alterations: one was diabetic and four had glucose intolerance and/or hyperinsulinemia. There was a direct correlation between the area under the curve for insulinemia and the duration of mucoviscidosis. A significant inverse correlation was also observed between the area under the curve for insulinemia and I/G ratio, and number of enzyme capsules/kg/day. CONCLUSIONS: The frequency of alterations in glucose homeostasis observed in patients with mucoviscidosis was higher than in the population at large (20% of the total sample and 33% of the group of patients with glycemia and insulinemia on OGTT). Therefore, it is important that glucose tolerance tests be performed systematically in patients with mucoviscidosis so that metabolic abnormalities can be early detected, and proper treatment can be initiated.