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A 5-year-old male with the Aarskog syndrome is described. He had abnormal facies, short stature, short fingers with interdigital webbing, a saddle type scrotum and mild mental retardation. In addition, he had isolated growth hormone deficiency as evidence by the insulin, arginine, and propranolol-glucagon tests. An arginine test after short-term stimulation with estrogen further supported this diagnosis. His mother had minor abnormalities of the hands and feet, and slight mental retardation.  相似文献   

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It is usual to consider that the greatest part of the black African population is lactose intolerant. Also, milk lactose malabsorption was studied by a breath hydrogen technique in 87 Gabonese children and 20 Gabonese adults (central Africa). The prevalence of malabsorption was 64.2% in rural schoolchildren, 65% in the urban hospitalized, and 60% in adults. Twelve children and six adults had clinical symptoms after a lactose load. All subjects were Bantus, with no tradition of consuming dairy products. These data must be considered in programs of nutritional support in Africa.  相似文献   

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OBJECTIVE: To assess the validity and clinical application of a hand-held breath hydrogen (H2) analyzer (BreatH2, Europa Scientific, Crewe, UK). METHODOLOGY: Breath samples of patients referred to the Gastroenterology Unit, Women's and Children's Hospital, North Adelaide, South Australia, for confirmation of the diagnosis of carbohydrate malabsorption were analysed with the Quintron microlyzer (Quintron Instrument Co., Milwaukee, USA) and the BreatH2 analyser, using the Quintron microlyzer as the gold standard. RESULTS: Twenty-nine breath H2 tests (BHT) were performed in 29 patients aged 2 months to 61 years. The sensitivity and specificity of the BreatH2 analyser in detecting a positive BHT using the Quintron microlyser as the gold standard were 0.90 and 0.95 with positive and negative predictive values of 0.90 and 0.95, respectively. There was one false positive and one false negative reading. Bland-Altman plots showed a high degree of agreement between the values obtained with two different methods. CONCLUSIONS: The diagnosis of carbohydrate malabsorption, using a portable breath H2 analyser (BreatH2), achieved an acceptable degree of sensitivity and specificity, enabling it to be used where no alternative is available.  相似文献   

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Thirty-eight infants and young children with gastroenteritis were investigated for lactose malabsorption. Each of them was given an oral lactose load of either 0.5 g/kg or 2 g/kg after which breath hydrogen excretion was measured, and each was observed to see if he had clinical symptoms of lactose intolerance. Only one patient, given 2 g/kg lactose, had clinical intolerance. His breath hydrogen excretion however was negative. Three of 18 patients given 0.5 g/kg lactose had positive breath hydrogen tests. None of these was symptomatic. Lactose intolerance in gastroenteritis was rare in our study, and the hydrogen breath test was not an appropriate technique for detecting it.  相似文献   

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BACKGROUND: In clinical and field conditions, breath gas analysis has been widely used in evaluating carbohydrate digestion. A field study was performed to determine the prevalence of lactose malabsorption in Myanmar children and to evaluate the possibility of using breath methane excretion to indicate lactose malabsorption in a field situation. METHODS: The study population consisted of 118 children aged 1 to 12 years. A hydrogen breath test after a lactose meal (2 g/kg, maximum 50 g) was used as a standard test. RESULTS: Lactose malabsorption was detected in 16.7% of children aged 1 to 2.9 years, with the prevalence increasing with age from 40.5% of those aged 3 to 5.9 years to 88.5% of those aged 6 to 8.9 years and reaching 91.7% in those aged 9 to 11.9 years. Lactose malabsorption was more prevalent when children were weaned before 4 months of age (87.2 vs. 41.1%; p < 0.01). Compared with lactose-tolerant children, those with lactose malabsorption had significantly higher concentrations of breath hydrogen excretion 60 minutes after the lactose test meal. Breath methane excretion was also significantly higher in samples at 120 minutes in children with lactose malabsorption. Breath methane excretion of greater than or equal to 2 parts per million at 180 minutes as a diagnostic test for lactose malabsorption had a sensitivity of 61.5% and a specificity of 84.6%. CONCLUSION: The breath methane test for lactose malabsorption has a lower sensitivity and specificity than the breath hydrogen test and therefore does not replace the lactose breath hydrogen test.  相似文献   

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OBJECTIVE: To determine, in a rat model of fat malabsorption, the potency of the carbon 13-labeled mixed triglyceride ((13)C-MTG) breath test as a noninvasive, patient-friendly replacement for classic fat balance studies.Study design: Comparison of the percentage of fat absorption, detected by fat balance, with the (13)CO(2) recovery of the (13)C-MTG breath test in rats fed high-fat chow and varying amounts of the lipase inhibitor, orlistat (0, 50, 200, and 800 mg per kilogram of chow), for 5 days. RESULTS: On orlistat administration, total fat absorption decreased from 80.2% +/- 2.2% to 32.8% +/- 3.7% (mean +/- SEM, 0 mg and 800 mg of orlistat per kilogram of chow, respectively; P <.001). Correspondingly, breath (13)CO(2) recovery from (13)C-MTG at 6 hours decreased from 84.5% +/- 7.8% to 42.0% +/- 1.5% of the dose (0 mg and 800 mg of orlistat per kilogram of chow, respectively; P <.001). The 6-hour recovery of breath (13)CO(2) appeared to be highly correlated with the percentage of fat absorption (r = 0.88, P <.001). In rats with fat absorption higher than 70%, however, the coefficient of variation of the (13)C-MTG breath test was 3-fold larger than that of the fat balance. CONCLUSIONS: The (13)C-MTG breath test could potentially replace the fat balance method for comparing fat absorption efficacy between groups. Yet, a considerable interindividual variation of the (13)C-MTG breath test under conditions of relatively mild fat malabsorption does not support its application for diagnostic purposes in individuals.  相似文献   

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This study of 200 Uruguayans between 0 and 86 years old was designed to determine the prevalence of lactose malabsorption. Lactose intolerance is defined as a clinical syndrome of abdominal pain, diarrhea, flatulence, and bloating after the ingestion of a standard lactose tolerance test dose (2 g of lactose per kilogram of body weight or 50 g/m2 of body surface area, maximum 50 g in a 20% water solution). Lactose malabsorption refers to the state in which dietary lactose remains unhydrolyzed and subsequently unabsorbed from the gastrointestinal tract; symptoms may or may not result from lactose malabsorption. The technique of breath hydrogen (H2) was used after ingestion of 2 g/kg body weight to a maximum of 50 g in a 20% solution. There was no lactose malabsorption in children younger than 5 years old. The prevalence increases progressively after the age of 5, and in adolescence the percentage of malabsorption is similar to that in adults, who show 65% lactose malabsorption, with 25% asymptomatic and 40% intolerant. In 109 white adults, the prevalence of lactose malabsorption is 63%, with 24% asymptomatic and 39% intolerant. In 11 black adults, lactose malabsorption is 82%, with 27% asymptomatic and 55% intolerant. The difference between white and black adults is statistically significant (p less than 0.05). The H2 test is simple, reliable, noninvasive, and appropriate to study large populations.  相似文献   

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Carbohydrate malabsorption in 110 healthy, term neonates was studied by estimating expired hydrogen (H2) before and after a feed on day 6 or 7. Carbohydrate malabsorption was assumed to be present if the infant excreted > 20 parts per million (ppm) H2. The frequency of carbohydrate malabsorption in 49 breast-fed infants was 25% (n = 12), in 35 infants fed a 7.5% lactose formula it was 31% (n = 11), in 26 infants fed a formula containing 1% lactose and 7.3% maltodextrin it was 15% (n = 4). These differences in frequency were not significant. Peak H2 concentration of the malabsorbers in each group, indicating the degree of carbohydrate malabsorption, was 64, 52, and 32 ppm respectively. The degree of carbohydrate malabsorption did not differ significantly between the breast-fed and the high lactose formula groups, but both groups differed from the low lactose group. H2 excretion was studied for 5 months in an exclusively breast-fed infant. In the first 2 months high concentrations were found and the infant produced 3-5 stools a day. In the next 3 months however, most H2 estimations were normal and only 1-2 stools a week were passed. With the introduction of solids, daily bowel movements promptly reoccurred. Frequency of carbohydrate malabsorption in newborn infants is fairly high and is primarily related to the lactose intake. The frequency and degree of carbohydrate malabsorption were comparable in breast-fed infants and in infants fed on a high lactose formula; this differs from results previously reported.  相似文献   

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Determination of aldolase activity in intestinal biopsy material offers a diagnostic alternative to liver biopsy in hereditary fructose intolerance (HFI). This diagnostic method could be validated by analysis of intestinal biopsies from eight patients with HFI. With the substrate fructose-1-phosphate (fru-1-p) we found 0.3±0.3 (x±SD) U/g of protein, with the substrate fructose-1,6-diphosphate (fru-1,6-p) 3.8±2.7 U/g of protein were measured. These results differ clearly from control activities (substrate = fru-1-p: 7.4±1.9 U/g of protein; substrate=fru-1,6-p: 13.9±4.3 U/g of protein). As the performance of the intestinal biopsy—in contrast to the liver biopsy—is virtually free of complications, it is recommended as the diagnostic method of choice in this disease.Aldolase activities were also determined in 40 intestinal biopsies from children with different malabsorption states: celiac disease (n=13), cow's milk protein intolerance (n=9), postinfectious syndrome (n=10), giardiasis (n=8). The activities differed clearly from our results in hereditary fructose intolerance. In celiac disease, cow's milk protein intolerance and postinfectious syndrome characteristic activity patterns were obtained: activities with fru-1,6-p were increased (celiac disease 17.2±5.7 U/g of protein; cow's milk protein intolerance 19.5±7.0 U/g of protein) or in the normal range (postinfectious syndrome 14.0±3.1 U/g or protein); activities with fru-1-p were decreased (celiac disease 2.3±1.0 U/g of protein; cow's milk protein intolerance 3.4±1.3 U/g of protein; postinfectious syndrome 5.0±0.8 U/g of protein). These results are discussed on the basis of aldolase isoenzyme distribution in the small intestinal mucosa.Herrn Prof. Dr. O. Hövels zum 60. Geburtstag gewidmetDiese Arbeit enthält sämtliche wesentlichen Teile der Doktorarbeit von Hanspeter Streb an der Universität Frankfurt  相似文献   

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Carbohydrate malabsorption in 110 healthy, term neonates was studied by estimating expired hydrogen (H2) before and after a feed on day 6 or 7. Carbohydrate malabsorption was assumed to be present if the infant excreted > 20 parts per million (ppm) H2. The frequency of carbohydrate malabsorption in 49 breast-fed infants was 25% (n = 12), in 35 infants fed a 7.5% lactose formula it was 31% (n = 11), in 26 infants fed a formula containing 1% lactose and 7.3% maltodextrin it was 15% (n = 4). These differences in frequency were not significant. Peak H2 concentration of the malabsorbers in each group, indicating the degree of carbohydrate malabsorption, was 64, 52, and 32 ppm respectively. The degree of carbohydrate malabsorption did not differ significantly between the breast-fed and the high lactose formula groups, but both groups differed from the low lactose group. H2 excretion was studied for 5 months in an exclusively breast-fed infant. In the first 2 months high concentrations were found and the infant produced 3-5 stools a day. In the next 3 months however, most H2 estimations were normal and only 1-2 stools a week were passed. With the introduction of solids, daily bowel movements promptly reoccurred. Frequency of carbohydrate malabsorption in newborn infants is fairly high and is primarily related to the lactose intake. The frequency and degree of carbohydrate malabsorption were comparable in breast-fed infants and in infants fed on a high lactose formula; this differs from results previously reported.  相似文献   

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To define the practical diagnostic value of H2 breath testing after lactose load in children with chronic abdominal pain, we measured end-expiratory H2 every 30 minutes for 2 hours after peroral lactose (2 g/kg body weight, Lactoscreen). H2 testing was done in 62 children (28 female, 32 male), aged between 2 and 16 years. Abdominal pain had been observed in these children for more than 2 months. Causes of abdominal pain other than lactose intolerance had been excluded. In 2 out of 62 children, H2 testing was impossible for lack of cooperation. 17 out of the remaining 60 children showed a positive test result (28.3%). In 15 patients, the rise in H2 exceeded 40 ppm, and was thus easily distinguished from a nonspecific rise (less than 25 ppm). Stool pH and Clini-test results were not correlating well with H2 findings, In 16 out of 17 children with positive H2 tests, abdominal pain had ceased on a diet free of lactose after a month. After 6 months 15 out of 17 children were symptom free. These data confirm early indication of non-invasive H2 testing in children with chronic abdominal pain.  相似文献   

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