17 research outputs found
Celiac disease in children with migraine
No full textIn an interesting article, Zelnik et al1 recently investigated the presence of neurologic disorders in patients with celiac disease (CD). They found those disorders to be more common in children with CD (51.4%) than in controls (19.9%). The authors also demonstrated therapeutic benefit with gluten-free diet only in patients with hypotonia or migraine. On the other hand, Gabrielli et al2 reported positive serology for CD in a significantly higher percentage of patients with migraine than in a control ..
Sandifer Syndrome and the Herbst Triad. An unusual presentation of gastro-esofageal reflux disease
No full textThe association of protein-losing enteropathy, sideropenic
anemia, finger clubbing (Herbst triad) and Sandifer syndrome
(reflux oesophagitis and head cocking) represents an unusual
manifestation of gastro-esophageal reflux disease
(GERD). Herein we report a patient presenting this complex
clinical picture and, in addition, allergic asthma and allergies to
several foods. The surgical correction of the gastro-oesophageal
reflux resolved the reflux itself and related symptoms
Genetic testing for adult-type hypolactasia in Italian families
No full textAdult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency. It is usually diagnosed by the measurement of breath hydrogen increase after a lactose load (breath hydrogen test). A substitution of C to T at position -13910 bp upstream the LCT gene (rs4988234), in a regulatory region, was found to be tightly associated with the Lactase Persistence phenotype in North-European populations.
We have investigated the -13910 C/T polymorphism to determine LCT genotype distribution and to validate genetic testing for adult type hypolactasia in a Southern European population.
43 children referred for suspected lactose malabsorption, their parents and siblings (112 individuals), were submitted to breath test, clinical monitoring and genotype determination.
125 unrelated blood donors from the same geographic area were genotyped for the calculation of allelic frequencies. The frequency of C/C genotypes was 70%.
The correlation between the C/C genotype (which should correspond to lactose non digesters) and positive BHT in unrelated family founders was statistically significant (chi2=16.7, p<0.002).
The genetic test compared to BHT had a sensitivity of 95% and 91% and a specificity of 48% and 55% in adults and children, respectively.
Low specificity might be due to intrinsic limitations of the standard BHT or to other possible mutations, although no sequence variation was found upon sequencing a 253 bp fragment of LCT regulatory region in asymptomatic individuals
Genetic testing for adult-type hypolactasia in Italian families
No full textBackground: Adult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency. It is usually diagnosed by the measurement of breath hydrogen increase after a lactose load (breath hydrogen test, BHT). A substitution of C to T at position –13910 bp upstream the LCT gene (rs4988235), in a regulatory region, was found to be strongly associated with the lactase persistence phenotype in North-European populations.
Methods: We investigated the –13910 C/T polymorphism to determine LCT genotype distribution and to validate genetic testing for adult-type hypolactasia in a Southern European population. A total of 43 children referred for suspected lactose malabsorption were enrolled in the study, their parents and siblings (whole sample=112 individuals) also took the breath test, and all were enrolled for clinical monitoring and genotype determination. In addition, 125 unrelated blood donors from the same geographic area were genotyped for the calculation of allelic frequencies. The frequency of C/C genotypes was 70%.
Results: The correlation between the C/C genotype (which should correspond to lactose non-digesters) and positive BHT in unrelated family founders was significant (χ2=16.7, p<0.002). The genetic test compared to the BHT had a sensitivity of 95% and 91% and a specificity of 48% and 55% in adults and children, respectively.
Conclusions: Low specificity might be due to intrinsic limitations of the standard BHT or to other possible mutations, although no sequence variation was found upon sequencing a 253 bp fragment of the LCT regulatory region in asymptomatic individuals
Chronic idiopathic hypertransaminasemia
No full textThe elevation of aminotransferase serum levels is frequently encountered in pediatric practice. We have retrospectively evaluated the clinical patterns of 108 patients with chronic, so called "idiopathic", alterations of aminotransferases, by sending a questionnaire to 11 Italian Pediatric Centers. The average period of follow-up was 22 months. Patients, whose ages ranged through all pediatric ages, were mostly asymptomatic and with a rather insignificant physical examination. The average rise of aminotransferases value was generally limited within 2 times the upper normal level and the highest value, during the period of follow-up, never exceeded 5 times the upper normal level. Other liver function tests did not result generally altered significant. Just 25,9% of the patients normalized aminotransferases serum level during the follow-up period. All maintained good physical status with no clinical signs of liver disease. A muscular cause of hyper-transaminasemia was excluded in all the cases. Possible infective causes (HBV and HCV) autoimmune hepatitis, Wilson disease, alfa1 antitripsine deficiency and hyperammoniemia were excluded. Ultrasound investigation did not seem to be a sensitive investigation, resulting negative in 54/82. Histologic liver examination was more informative. This evaluation, performed in 46/108 patients, showed infarct metabolic alterations (steatosis, nucleus glucogenic degeneration, cytoplasmatic clarification) in 65% of cases and inflammatory findings in only 13% of cases. In conclusion, our results suggest the opportunity to enclose liver histologic study in the diagnostic approach of children with hepatic idiopathic chronic hypertransaminasemia. This approach may address the clinician, in a more aimed way, towards further investigations
Valutazione dei fattori di rischio di atopia nel 1° anno di vita. Ricerca policentrica
No full textThe authors studied 406 patients newborn babies during the 1st year of life in order to verify the correlation between atopy risk factors and the appearance of early symptoms, particularly gastroenteric (GE). The results obtained did not demonstrate a significant difference concerning the blood cord IgE level and subsequent appearance of food allergy symptoms, whereas positive familiarity showed a better correlation. No significant difference was observed between breast – or formula – fed infants, or between those weaned before or after the 5th month of life. The comparison of dietary regimen adopted during the 1st quarter in the asymptomatic and atopic children respectively, demonstrated that the presence of the predisposing factors influences the appearance of GE symptoms much more than the diet in itself. An allergologic study, randomly performed by Prick-test in 156 cases and by RAST in 200 cases, showed a prevalent, positive response with RAST technique in symptomatic children
Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).
No full textManagement of cholelithiasis in Italian children:a national multicenter study.
No full textAIM: To evaluate the management of Italian children with cholelithiasis observed at Pediatric and Surgical Departments linked to Italian Society of Pediatric Gastroenterology Hepatology and Nutrition.
METHODS: One-hundred-eighty children (90 males, median age at diagnosis 7.3 years; range, 0-18 years) with echographic evidence of cholelithiasis were enrolled in the study; the data were collected by an anonymous questionnaire sent to participating centers.
RESULTS: One hundred seventeen patients were treated with ursodeoxycholic acid; in 8 children dissolution of gallstones was observed, but the cholelithiasis recurred in 3 of them. Sixty-five percent of symptomatic children treated became asymptomatic. Sixty-four patients were treated with cholecystectomy and in only 2 cases a postoperative complication was reported. Thirty-four children received no treatment and were followed with clinical and echographic controls; in no case the development of complications was reported.
CONCLUSION: The therapeutic strategies were extremely heterogeneous. Ursodeoxycholic acid was ineffective in dissolution of gallstones but it had a positive effect on the symptoms. Laparoscopic cholecystectomy was confirmed to be an efficacy and safe treatment for pediatric gallstone
Guidelines for the screening and follow-up of infants born to anti-HCV positive mothers
No full textHepatitis C virus infection in infancy largely depends on vertical transmission. The transfer of hepatitis C virus from mother to child is almost invariably restricted to children whose mother is viremic, and the rate of transmission seems to be influenced by maternal virus load, although, in the single patient, the levels of viremia cannot be used as predictors of pediatric infection. In fact, the flow-chart for screening children at risk for vertically transmitted hepatitis C virus infection takes into account maternal viremia. In children born to anti-hepatitis C virus antibody positive, hepatitis C virus-RNA negative mothers, alanine aminotransferase and anti-hepatitis C virus should be investigated at 18-24 months of life. If alanine aminotransferase values are normal and anti-hepatitis C virus is undetectable, follow-up should be interrupted. In children born to hepatitis C virus-RNA positive mothers, alanine aminotransferase and hepatitis C virus RNA should be investigated at 3 months of age: (1) hepatitis C virus-RNA positive children should be considered infected if viremia is confirmed by a second assay performed within the 12th month; (2) hepatitis C virus-RNA negative children with abnormal alanine aminotransferase should be tested again for viremia at 6-12 months, and for anti-hepatitis C virus at 18 months; (3) hepatitis C virus-RNA negative children with normal alanine aminotransferase should be tested for anti-hepatitis C virus and alanine aminotransferase at 18-24 months, and should be considered non-infected if alanine aminotransferase is normal and anti-hepatitis C virus undetectable; (4) anti-hepatitis C virus seropositivity beyond the 18th month in a never-viremic child with normal alanine amino-transferase is likely consistent with past hepatitis C virus infection. © 2003 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Science Ltd. All rights reserved
Indications to upper gastrointestinal endoscopy in children with dyspepsia.
No full textAbstract
OBJECTIVES:
The objective of the study was to ascertain the appropriateness of indications for upper gastrointestinal (UGI) endoscopy in children with dyspepsia.
METHODS:
We used the RAND/University of California at Los Angeles method to investigate the appropriateness of the opinions of a panel of experts. The panel judged 2304 theoretical patient scenarios defined by a combination of demographic and clinical variables. Descriptive and multivariate logistic regression analyses were performed.
RESULTS:
The panel rated UGI endoscopy as appropriate in 27.2% of cases, inappropriate in 14.3%, and dubious in 58.5%. Disagreement emerged for 21% of cases. UGI endoscopy was considered increasingly appropriate in cases with a positive family history of peptic ulcer and/or Helicobacter pylori infection (odds ratio [OR] 8.518, P < 0.0001), when dyspepsia interfered with activities of daily living ("sleep" OR 7.540, P < 0.0001; "normal activities" OR 5.725, P < 0.0001), and when patients were older than 10 years ("<or=10 years" OR 0.310, P < 0.0001) the longer the duration ("0-2 months" OR 0.002, P < 0.0001; "3-5 months" OR 0.059, P < 0.0001; "6-11 months" OR 0.516, P = 0.0005) and the greater the severity ("mild" OR 0.002, P < 0.0001; "moderate" OR 0.013, P < 0.0001) of their dyspeptic symptoms.
CONCLUSIONS:
UGI endoscopy is not appropriate for all children with dyspeptic symptoms, but only for cases with a family history of peptic ulcer and/or Helicobacter pylori infection, older than 10 years of age, with symptoms persisting for more than 6 months and severe enough to affect activities of daily living
