RESUMO
OBJECTIVES: With the use of clinical data from a large international cohort, we evaluated and compared affected siblings and isolated cases. STUDY DESIGN: Data from 116 families were collected, and patients conforming to our predetermined diagnostic criteria were analyzed. Phenotypic manifestations of affected siblings and singletons were compared with the use of t tests, Wilcoxon scores, and chi2 analysis. RESULTS: Eighty-eight patients (33 female, 55 male; median age 5.20 years) fulfilled our predetermined diagnostic criteria for Shwachman syndrome; 63 patients were isolated cases, and 25 affected siblings were from 12 multiplex families. Steatorrhea was present in 86% (57 of 66), and 91% (78 of 86) displayed a low serum trypsinogen concentration. Patients older than 4 years more often had pancreatic sufficiency. Neutropenia occurred in 98%, anemia in 42%, and thrombocytopenia in 34%. Myelodysplasia or cytogenetic abnormalities were reported in 7 patients. Short stature with normal nutritional status was a prominent feature. CONCLUSIONS: Clinical features among patients with Shwachman syndrome varied between patients and with age. Similarities in phenotype between isolated cases and affected sibling sets support the hypothesis that Shwachman syndrome is a single disease entity.
Assuntos
Insuficiência Pancreática Exócrina/genética , Doenças Hematológicas/genética , Fenótipo , Infecções Bacterianas/epidemiologia , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/genética , Doença Celíaca/epidemiologia , Doença Celíaca/genética , Criança , Pré-Escolar , Estudos de Coortes , Insuficiência Pancreática Exócrina/epidemiologia , Feminino , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/genética , Doenças Hematológicas/epidemiologia , Hepatomegalia/epidemiologia , Hepatomegalia/genética , Humanos , Lactente , Recém-Nascido , Masculino , Neutropenia/epidemiologia , Neutropenia/genética , Núcleo Familiar , Estatísticas não Paramétricas , Síndrome , Tripsinogênio/sangueRESUMO
OBJECTIVE: To examine the overlap between cyclic vomiting syndrome (CVS) and migraine by comparing 2 subsets of children with migraine-associated and non-migraine-associated CVS. METHODS: We studied all children <18 years of age who met the consensus criteria for CVS after presentation to our pediatric gastroenterology service from 1986 to 1998. The clinical patterns and responses to treatment were obtained from a combination of chart reviews and structured interviews. RESULTS: Among 214 children identified as having CVS, 82% were classified as having migraine-associated CVS based on 1 of 2 criteria either a family history of migraines or subsequent development of migraine headaches. Compared with the non-migraine CVS subgroup, the migraine subset had milder episodes (20.7 27.3 SD vs 39.5 66.5 emeses/episode, P =.006); more symptoms of abdominal pain (83% vs 66%), headache (41% vs 24%), social withdrawal (40% vs 22%), photophobia (36% vs 16%, all P <.05); more frequent triggering events (70% vs 49%, P =.013) including psychologic stress (39% vs 22%), physical exhaustion (23% vs 3%), and motion sickness (10% vs 0%); and a higher positive response rate to anti-migraine therapy (79% vs 36%, P =.002). CONCLUSIONS: The majority of children with CVS were subclassified as having migraine-associated CVS. The migraine-associated subgroup had less severe vomiting, manifested symptoms typical of migraine headaches, and had higher response rates to anti-migraine therapy. These findings strengthen the relationship between migraine and CVS.
Assuntos
Transtornos de Enxaqueca/fisiopatologia , Vômito/fisiopatologia , Criança , Estudos de Coortes , Humanos , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/tratamento farmacológico , Síndrome , Vômito/complicações , Vômito/tratamento farmacológicoRESUMO
We evaluated the in vitro and in vivo digestibility and clinical tolerance of three corn syrup sugars (DE10, 15, 24) and one infant formula containing corn syrup sugar as the sole carbohydrate source (DE24). In vitro studies were conducted using human duodenal fluid and jejunal mucosa with normal enzyme activities. In vivo studies included intragastric perfusion studies and tolerance tests using the corn syrup sugars and a clinical formula trial in 32 infants with acute diarrhea. Results of the in vitro studies showed that each of the corn syrup sugars was well hydrolyzed by duodenal fluid and by mixtures of duodenal fluids and mucosal homogenates. Similarly, in vivo studies revealed significant hydrolysis in the proximal intestine, as measured during the perfusion studies, and adequate absorption, as indicated by a rise in serum glucose concentration during tolerance tests. Only patients who had a marginal serum glucose rise after a glucose meal had a blunted rise after a corn syrup feeding. More than 85% of the infants beginning the clinical trial tolerated the formula well and gained weight at or above the expected rate for age during the study interval. These data indicate that, except with severe mucosal injury and secondary monosaccharide intolerance, glucose polymers of the dextrose equivalents tested are suitable carbohydrate sources for infants recovering from acute diarrhea.
Assuntos
Diarreia Infantil/metabolismo , Carboidratos da Dieta/metabolismo , Digestão , Ensaios Clínicos como Assunto , Duodeno/metabolismo , Humanos , Hidrólise , Lactente , Alimentos Infantis/efeitos adversos , Absorção Intestinal , Secreções Intestinais/metabolismo , Jejuno/metabolismo , Zea maysRESUMO
We have described the developmental pattern of the gastrointestinal tract under optimal conditions (i.e., low risk pregnancy and normal labor and delivery at term). The tissues do not develop simultaneously, and morphologic and functional development are not concurrent. An important consideration is the effect of suboptimal or even adverse conditions on the developmental sequence and attainment of maturity. Malnutrition during both the prenatal and postnatal periods may restrict the morphologic and biochemical development of the gastrointestinal tract. Dietary modifications have been shown to alter the developmental pattern of intestinal and pancreatic enzymes in animal models. Drugs and hormonal therapy given during pregnancy and early infancy have been known to cause developmental defects, but the specific effects on the gastrointestinal tract have not been evaluated. For further understanding of digestibility of nutrients and absorption in the perinatal period, these departures from the normal development of the gastrointestinal tract and the mechanisms by which these potential effects occur remain to be described. In view of these undetermined factors, in the case of intolerance or unavailability of milk from the natural mother, feedings should be individualized, with attention to direct measurement of enzyme concentrations, balance studies, or both, especially in the case of extreme prematurity or unusual requirements.