ABSTRACT
Apolipoprotein A5 (APOA5) and apolipoprotein E (APOE) play important roles in the metabolism of cholesterol and triglycerides. The aim of this study was to determine the allelic and genotypic distributions of the APOA5-1131T>C (rs 662799) and the APOE HhaI polymorphisms and to identify the association of both individual and combined APOA5-APOE genetic variants and the risk for dyslipidemia in children and adolescents. We genotyped 53 dyslipidemic and 77 normolipidemic individuals. The total cholesterol, triglycerides and HDL cholesterol were determined enzymatically. For APOA5 polymorphism, the presence of the allele C confers an individual risk for dyslipidemia (OR = 2.38, 95% CI = 1.15-4.89; P = 0.018). No significant differences were observed for lipid parameters among the APOA5 groups, except for a higher value of HDLc (P = 0.024) in C-carriers. The allelic and genotypic frequencies of APOE polymorphism were similar between groups and did not increase the susceptibility for dyslipidemia. None of the combined APOA5-APOE polymorphisms increased risk for dyslipidemia. We demonstrated an association between APOA5-1131T>C polymorphism and dyslipidemia in children and adolescents. This finding may be useful to guide new studies with genetic markers down a path toward a better characterization of the genetic risk factors for dyslipidemia and atherosclerotic diseases.
Subject(s)
Apolipoproteins A/genetics , Apolipoproteins E/genetics , Dyslipidemias/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , Adolescent , Apolipoprotein A-V , Child , Demography , Dyslipidemias/blood , Female , Gene Frequency/genetics , Humans , Lipids/blood , Male , Young AdultABSTRACT
Brazil has a young population and areas of endemic mansoni schistosomiasis where Wilson's disease might be easily misdiagnosed in patients erroneously classified as having either the hepatosplenic or the hepatointestinal form of the helminthiasis. Twenty five patients with the "hepatic form" of Wilson's disease (14 males and 11 females) were investigated in Belo Horizonte, MG; the mean age was 13.7 years (3 to 22). Nineteen had hepatomegaly (76%) and nine splenomegaly (36%). Twenty two (88%) had cirrhosis. The Kaiser-Fleisher ring was detected in fifteen (60%). Four (16%) had clear neurological abnormalities. Eleven (44%) had ascitis and/or jaundice. Ninety one point three per cent and 92% had low ceruloplasmin and copper serum levels respectively. Eighty four point two per cent showed an increased 24 hours urinary copper excretion; seven patients in whom hepatic copper was determined had increased values. Six out of nine had at least a ten fold increase in 24 hours urinary copper excretion following penicillamine use ("penicillamine test"). Three out of 19 patients (15.8%) had mansoni schistosoma ova in stools examination, a common prevalence in our population. Their biopsies showed inactive cirrhosis without schistosomiasis-associated alterations. At least fourteen patients (56%) could be misdiagnosed as having hepatointestinal or hepatosplenic schistosomisis when in fact they suffered from Wilson's disease with or without asymptomatic intestinal schistosomiasis, losing the chance of an early treatment. The follow-up time of 22 patients was 52 months (1 to 96); eight (36.3%) died, four from bleeding esphageal varices, three from terminal hepatic failure and one from fulminant liver failure. The majority of the patients, including those who died, had abandomned the use of penicillamine or had taken it irregularly, due mainly to its highly expensive cost. A 17 year old patient underwent a successful liver transplant in 1989.
Subject(s)
Hepatolenticular Degeneration/diagnosis , Liver Diseases/etiology , Schistosomiasis mansoni/epidemiology , Adolescent , Adult , Child , Child, Preschool , Copper/urine , Diagnosis, Differential , Female , Follow-Up Studies , Hepatolenticular Degeneration/etiology , Hepatolenticular Degeneration/therapy , Humans , Liver Cirrhosis/pathology , Liver Diseases/physiopathology , Male , Schistosomiasis mansoni/diagnosisABSTRACT
1. A study of six patients with Chronic Calcifying Pancreatitis (CCP) occurring over a 10 year period, representing an incidence rate of approximately 1:1,000 of the inpatients in the children's ward of a general hospital in central Brazil, is reported. 2. Major clinical manifestations as well as therapeutic management are described. 3. The possible relationship between CCP and primary protein-calorie malnutrition is discussed and the importance of a CCP diagnosis when dealing with malnourished children who do not respond satisfactorily to common therapy is emphasized.
Subject(s)
Pancreatitis/etiology , Protein-Energy Malnutrition/complications , Calcinosis/diagnosis , Calcinosis/etiology , Child , Child, Preschool , Chronic Disease , Female , Humans , Male , Pancreatitis/diagnosis , Pancreatitis/therapyABSTRACT
1. Study of six patients with chronic calcifying pancreatitis (CCP) occurring over a 10 year period, representing an incidence rate of approximately 1:1,000 of the impatients in the children's ward of a general hospital in central Brazil, is reported. 2. Major clinical manifestations as well as therapeutic management are described. 3. The possible relationship between CCP and primary protein-calorie malnutrition is discussed and the importance of a CCP diagnosis when dealing malnourished children who do not respond satisfactorily to common therapy is emphasized
Subject(s)
Child, Preschool , Child , Humans , Male , Female , Calcinosis/etiology , Pancreatitis/etiology , Protein-Energy Malnutrition/complications , Chronic Disease , Nutritional StatusABSTRACT
Enteropathogenic bacteria were searched in feces of 80 children with acute diarrhea from the lower social economical level, all of them younger than twenty seven months old, and without any antimicrobial therapy, in Belo Horizonte, MG, Brazil, from June 1981 to August 1982. The following enteropathogenic bacteria were isolated from 46 children: Shigella in 12 children (15.00%), enterotoxigenic Escherichia coli in 12 children (15.00%), classic enteropathogenic Escherichia coli in 9 children (11.25%), Salmonella in 6 children (7.50%). Association of enteropathogenic bacteria were found in 7 children (8.75%). Yersinia enterocolitica and invasive Escherichia coli were not isolated from any patient.
Subject(s)
Diarrhea, Infantile/microbiology , Enterobacteriaceae Infections/microbiology , Brazil , Child, Preschool , Enterobacteriaceae/isolation & purification , Escherichia coli/isolation & purification , Female , Humans , Infant , Infant, Newborn , Male , Salmonella/isolation & purification , Shigella/isolation & purification , Socioeconomic Factors , Yersinia enterocolitica/isolation & purificationABSTRACT
Neste trabalho sao feitas consideracoes sobre a doenca celiaca. Uma casuistica e apresentada, e a necessidade de se estabelecer criterios bem definidos da doenca e discutida. Enfatiza-se o risco de complicacoes que correm os celiacos em uso de gluten. Manifestacoes clinicas pouco comuns e outras menos evidentes sao abordadas no trabalho o efeito protetor do leite humano e enfatizado
