ABSTRACT
The C/T-13910 mutation is the major factor responsible for the persistence of the lactase-phlorizin hydrolase (LCT) gene expression. Mutation G/A-22018 appears to be only in co-segregation with C/T-13910. The objective of the present study was to assess the presence of these two mutations in Brazilian individuals with and without lactose malabsorption diagnosed by the hydrogen breath test (HBT). Ten milk-tolerant and 10 milk-intolerant individuals underwent the HBT after oral ingestion of 50 g lactose (equivalent to 1 L of milk). Analyses for C/T-13910 and G/A-22018 mutations were performed using a PCR-based method. Primers were designed for this study based on the GenBank sequence. The CT/GA, CT/AA, and TT/AA genotypes (lactase persistence) were found in 10 individuals with negative HBT. The CC/GG genotype (lactase non-persistence) was found in 10 individuals, 9 of them with positive HBT results. There was a significant agreement between the presence of mutations in the LCT gene promoter and HBT results (kappa = -0.9, P < 0.001). The CT/AA genotype has not been described previously and seems to be related to lactase persistence. The present study showed a significant agreement between the occurrence of mutations G/A-22018 and C/T-13910 and lactose absorption in Brazilian subjects, suggesting that the molecular test used here could be proposed for the laboratory diagnosis of adult-type primary hypolactasia.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Lactase-Phlorizin Hydrolase/genetics , Lactose Intolerance/genetics , Mutation/genetics , Brazil , Breath Tests/methods , Case-Control Studies , Genotype , Hydrogen/analysis , Lactose Intolerance/diagnosis , Lactose Intolerance/enzymology , Polymerase Chain ReactionABSTRACT
The C/T-13910 mutation is the major factor responsible for the persistence of the lactase-phlorizin hydrolase (LCT) gene expression. Mutation G/A-22018 appears to be only in co-segregation with C/T-13910. The objective of the present study was to assess the presence of these two mutations in Brazilian individuals with and without lactose malabsorption diagnosed by the hydrogen breath test (HBT). Ten milk-tolerant and 10 milk-intolerant individuals underwent the HBT after oral ingestion of 50 g lactose (equivalent to 1 L of milk). Analyses for C/T-13910 and G/A-22018 mutations were performed using a PCR-based method. Primers were designed for this study based on the GenBank sequence. The CT/GA, CT/AA, and TT/AA genotypes (lactase persistence) were found in 10 individuals with negative HBT. The CC/GG genotype (lactase non-persistence) was found in 10 individuals, 9 of them with positive HBT results. There was a significant agreement between the presence of mutations in the LCT gene promoter and HBT results (kappa = -0.9, P < 0.001). The CT/AA genotype has not been described previously and seems to be related to lactase persistence. The present study showed a significant agreement between the occurrence of mutations G/A-22018 and C/T-13910 and lactose absorption in Brazilian subjects, suggesting that the molecular test used here could be proposed for the laboratory diagnosis of adult-type primary hypolactasia.
Subject(s)
Lactase-Phlorizin Hydrolase/genetics , Lactose Intolerance/genetics , Mutation/genetics , Adult , Brazil , Breath Tests/methods , Case-Control Studies , Female , Genotype , Humans , Hydrogen/analysis , Lactose Intolerance/diagnosis , Lactose Intolerance/enzymology , Male , Middle Aged , Polymerase Chain ReactionABSTRACT
Capillaria hepatica is a helminth that may cause an extremely rare condition of parasitic hepatitis. Only 29 cases have been published, 2 of them in Brazil. We report here 3 cases of children in Brazil with massive hepatic capillariasis who presented the characteristic triad of this type of infection, i.e., persistent fever, hepatomegaly, and eosinophilia. The diagnosis was made by liver biopsy. All children responded well after treatment with thiabendazole (case 1), albendazole (case 3), and albendazole in combination with a corticoid (case 2). Case 1 has been followed-up for 24 years, an event not previously reported in the literature.
Subject(s)
Capillaria/pathogenicity , Enoplida Infections/diagnosis , Hepatitis/diagnosis , Liver Diseases, Parasitic/diagnosis , Liver/parasitology , Albendazole/therapeutic use , Animals , Anthelmintics/therapeutic use , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Biopsy , Brazil , Child, Preschool , Enoplida Infections/drug therapy , Eosinophilia , Female , Fever , Follow-Up Studies , Hepatitis/drug therapy , Hepatitis/parasitology , Hepatomegaly , Humans , Infant , Liver/pathology , Liver Diseases, Parasitic/drug therapy , Male , Parasite Egg Count , Prednisone/therapeutic use , Thiabendazole/therapeutic useABSTRACT
Two children with Budd-Chiari syndrome were successfully submitted to thrombolytic therapy. This study suggests that streptokinase is safe and effective in the treatment of this syndrome and should be considered as primary treatment in case of early diagnosed acute disease in view of the poor prognosis and the aggressiveness of surgical treatment currently available.
Subject(s)
Budd-Chiari Syndrome/drug therapy , Fibrinolytic Agents/therapeutic use , Streptokinase/therapeutic use , Thrombolytic Therapy , Child , Follow-Up Studies , Humans , MaleABSTRACT
Cytomegalovirus infection is symptomatic in only 10% of cases. The most frequent findings are cholestasis and hepatosplenomegaly. Ten patients who presented neonatal cholestasis associated with cytomegalovirus infection were studied. The majority had elevation of serum aminotransferases and mild abnormality of hepatic function. The histopathologic findings were: normal, giant cell hepatitis, bile duct proliferation (confused with extrahepatic biliary atresia) and ductopenia. The clinical course of the patients varied from disappearance of the symptoms (2 cases) to death (2 cases). Because of the possibility of confusing the histologic findings with extrahepatic biliary atresia, the etiology of neonatal cholestasis, including cytomegalovirus infection, should be determined as soon as possible.
ABSTRACT
Gastroesophageal reflux in children is a frequent problem of pediatrics. According to a literature review, it was showed and discussed some pathophysiological factors related to the genesis of gastroesophageal reflux in infancy: which facilitates the reflux episodes more frequently, interferes in esophageal clearance, makes the reflux more aggressive or which facilitates upper airway aspiration. Some questions are pointed: gastroesophageal reflux in children is different from the adult; the genesis is multiple and gastroesophageal reflux is part of a gastrointestinal motility disorder as a whole.
Subject(s)
Esophagogastric Junction/physiopathology , Gastroesophageal Reflux/physiopathology , Child , Child, Preschool , Gastroesophageal Reflux/etiology , Humans , Infant , Infant, Newborn , Manometry , Pressure , Risk FactorsABSTRACT
We studied 20 children with a clinical picture and laboratory study suggestive of hepatic glycogenosis. The age of the beginning of symptoms varied from birth to 24 months and the age at the diagnosis varied from 2 to 81 months. Hepatomegaly was found in all patients, diarrhea in 65% (13/26), "doll-face" in 55% (11/20) and convulsions in 50% (10/20). Nutritional evaluation showed more height deficiency than weight deficiency. Laboratory tests showed elevation of hepatic transaminases (12/19), hypercolesterolemia (8/14), hyperuricemia (6/17) and hypoglycemia (6/20). Liver function was not compromised in most of the cases. The results of glucagon tolerance test were variable. The histoenzymology study performed in 15 patients revealed the following results: Type VI (liver phosphorylase deficiency) in seven, Type I (glucose-6-phosphatase deficiency) in two, Type IV (brancher enzyme) in one and no conclusion could be drawn in five patients. The finding of hypoglycemia in few cases of this study can be justified by the few number of glycogenosis Type I, probably due to the fact that this type is the most easily diagnosed, with less necessity of referring them to specialized centers.