26 results on '"Hepatology"'
Search Results
2. First People's Hospital Reports Findings in Liver Function (Clinical effect of spleen aminopeptide on improving liver function damage and immune function in children with infant hepatitis syndrome).
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SPLEEN ,HEPATITIS ,DIGESTIVE system diseases ,LIVER ,INFANTS - Abstract
A recent study conducted at the First People's Hospital in Wuhan, China, explored the use of arsphenamine-based peptides in the treatment of infant hepatitis syndrome (IHS) in children under one year old. The study compared the effects of this treatment with a control group that received reduced glutathione. The results showed that the treatment group had significantly lower levels of serum bilirubin and alanine transferase, as well as higher levels of CD4, CD3, and CD4/CD8, indicating improved liver function and immune function. The study concluded that the combination of arsphenamine and reduced glutathione was more effective in treating IHS. This research has been peer-reviewed and published in the World Journal of Gastrointestinal Surgery. [Extracted from the article]
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- 2024
3. New Liver Failure Research from Children's Hospital of Fudan University Discussed (Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1).
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CHILDREN'S hospitals ,LIVER failure ,UNIVERSITY hospitals ,PROGNOSIS ,INFANTS - Abstract
A recent study conducted at Children's Hospital of Fudan University explored infant liver failure syndrome type 1 (ILFS1), a rare autosomal-recessive disorder caused by leucyl-tRNA synthase 1 (LARS1) deficiency. The researchers identified three new cases of ILFS1 with confirmed variants in LARS1 and summarized the disease characteristics of these cases along with 33 previously reported cases. The main clinical features of ILFS1 included intrauterine growth restriction, failure to thrive, hypoalbuminemia, microcytic anemia, acute liver failure, neurodevelopmental delay, seizures, and muscular hypotonia. The study found that early age of onset and the presence of liver failure were associated with a poor prognosis in ILFS1 patients. However, no significant correlations were observed between genotype and the severity of the disease. Further research is needed to establish genotype-phenotype correlations in ILFS1. [Extracted from the article]
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- 2024
4. Data on Hepatitis C Virus Described by a Researcher at Cooper University Hospital (Hepatitis C Exposure Diagnosis and Testing in Infants Born to Hepatitis C Virus-infected Mothers).
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HEPATITIS C virus ,UNIVERSITY hospitals ,RESEARCH personnel ,INFANTS ,DIAGNOSIS ,HEPATITIS C - Abstract
A recent study conducted at Cooper University Hospital in New Jersey found that there has been a significant increase in cases of hepatitis C virus (HCV) infection among pregnant women, potentially due to the rise in opioid use. The study focused on infants born to mothers with a prenatal diagnosis of HCV and found that a significant number of these infants were either not identified at birth or did not receive adequate testing for HCV exposure. The researchers concluded that more work needs to be done to improve the documentation of HCV exposure at birth and follow-up testing to prevent the missed diagnosis of congenitally acquired HCV. [Extracted from the article]
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- 2024
5. Reports from Division of Viral Hepatitis Provide New Insights into Hepatitis C Virus (Cdc's New Hepatitis C Virus Testing Recommendations for Perinatally Exposed Infants and Children: a Step Towards Hepatitis C Elimination).
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HEPATITIS C virus ,VIRAL hepatitis ,HEPATITIS C ,DIGESTIVE system diseases ,INFANTS - Abstract
A new study on Hepatitis C Virus (HCV) testing recommendations for perinatally exposed infants and children has been published. The research highlights the importance of early identification and linkage to care for children with perinatally acquired HCV infection. The study recommends a nucleic acid test (NAT) for detection of HCV RNA at 2-6 months of age to increase the identification of infants who may develop chronic hepatitis C. The research aims to improve the health of pregnant and postpartum individuals and their children and advance national hepatitis C elimination efforts. [Extracted from the article]
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- 2024
6. Investigators from Ann and Robert H. Lurie Children's Hospital of Chicago Zero in on Acute Liver Failure (Neonates With Acute Liver Failure Have Higher Overall Mortality but Similar Posttransplant Outcomes As Older Infants).
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LIVER failure ,CHILDREN'S hospitals ,INFANTS ,NEWBORN infants - Abstract
A recent report from the Ann and Robert H. Lurie Children's Hospital of Chicago highlights the high mortality rate of neonatal acute liver failure (ALF) and the lack of data on its peritransplant hospital course. The study used large multicenter databases to identify factors associated with outcomes in neonates with ALF. The research found that neonates had lower survival rates and a lower rate of liver transplantation compared to older infants. However, neonates who received a transplant had similar posttransplant outcomes as older infants. The study suggests the need for further research to improve outcomes and risk stratification for neonates eligible for transplant. [Extracted from the article]
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- 2024
7. New Findings in Marijuana/Cannabis Described from Erlanger Health System (The Evaluation and Treatment of an Infant Exposed To Nongenital Hsv-2).
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VIRAL encephalitis ,INFANTS ,CENTRAL nervous system viral diseases ,HUMAN herpesvirus 2 - Abstract
A study conducted by Erlanger Health System in Chattanooga, Tennessee, examines the evaluation and treatment of infants exposed to nongenital herpes simplex virus-2 (HSV-2) through pregnant individuals. The study highlights the risks of infant morbidity and mortality associated with primary nongenital HSV infections in pregnant individuals and the need for further investigation into the evaluation and treatment of these infants. The study also provides information on the transmission and manifestations of HSV infections in infants. The article calls for more research to develop guidelines for the evaluation and treatment of infants born to pregnant individuals with primary nongenital HSV infections. [Extracted from the article]
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- 2024
8. Research from Saarland University Hospital Reveals New Findings on Liver Function (A Narrative Review on Maternal Choline Intake and Liver Function of the Fetus and the Infant; Implications for Research, Policy, and Practice).
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CHOLINE ,UNIVERSITY hospitals ,LIVER ,INFANTS ,FETUS ,PRENATAL bonding - Abstract
A recent study from Saarland University Hospital in Germany has found that dietary choline is necessary for maintaining normal liver function in adults. The study focused on the impact of choline intake during pregnancy and lactation on the liver function of the fetus and breastfed infants. The researchers discovered that choline from the maternal diet is actively transferred to the placenta, fetal liver, and human milk, and a deficiency in choline can lead to fatty liver in both the mother and the fetus. The study suggests that public health policies should be implemented to ensure sufficient choline intake for pregnant and lactating women. [Extracted from the article]
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- 2024
9. Concise Pediatric and Adolescent Hepatology
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Dhawan, A. and Dhawan, A.
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- Children, Infants, Human beings, Hepatology, Liver--Diseases--Treatment, Pediatric gastroenterology
- Abstract
Great progress in molecular biology, therapeutics, imaging as well as surgery have vastly improved the understanding and treatment of childhood liver disorders. In particular, surgical advancements in liver transplantation currently allow for a lower age or weight limit for recipients. Furthermore, the majority of children with liver disease or with liver transplantation today survive well into adulthood. In this book, world experts in the now established subspecialty of pediatric hepatology provide a comprehensive summary of the latest advances in pathophysiology, molecular diagnostics and treatment strategies. Day-to-day management of liver transplant recipients as well as psychosocial aspects and complications during the challenging transition phase to adulthood are discussed in detail. This up-to-date overview will be an invaluable tool for trainees in pediatric gastroenterology, a ready reference for busy clinicians and nurses or allied health professionals involved in the care of children with liver disease and after liver transplantation.
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- 2012
10. Hospital for Sick Children Reports Findings in Liver Function (Age-specific reference intervals for liver function tests in healthy neonates, infants, and young children in Iran).
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LIVER function tests ,NEWBORN infants ,INFANTS ,CHILDREN'S hospitals ,LIVER ,SICK people ,LABORATORY personnel - Abstract
A recent study conducted in Iran has determined age-specific reference intervals for liver function tests in healthy neonates, infants, and young children. The study included 344 participants aged 3 days to 30 months old, and measured serum levels of various liver function markers. The results showed age-specific differences in all analytes except for AST, with ALT and ALP levels being significantly elevated in infants aged 0 to <5 months. The study provides valuable data for clinical interpretation of liver function test results in young Iranian neonates and children, and may be useful for clinical laboratories with similar populations. [Extracted from the article]
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- 2023
11. Research on Acute Liver Failure Discussed by a Researcher at Baylor College of Medicine [Pediatric Acute Liver Failure Secondary to Autoimmune Hepatitis in an Infant With Thrombocytopenia-Absent Radius (TAR) Syndrome: A Case Report].
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AUTOIMMUNE hepatitis ,LIVER failure ,DIGESTIVE system diseases ,RESEARCH personnel ,INFANTS ,KIDNEY failure - Abstract
A new report discusses research on acute liver failure, specifically focusing on a case of an 8-month-old infant with Thrombocytopenia-Absent Radius (TAR) syndrome who developed pediatric acute liver failure (PALF) secondary to autoimmune hepatitis (AIH). This association between TAR syndrome and AIH has not been previously reported. The infant received a liver transplant but experienced complications such as rejection, infection, and graft failure, ultimately leading to death. This case highlights the potentially aggressive nature of AIH in both pre- and post-transplant stages. [Extracted from the article]
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- 2023
12. New Liver Failure Research from University of Utah Discussed (Fomepizole Therapy for Acetaminophen-Induced Liver Failure in an Infant).
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LIVER failure ,FOMEPIZOLE ,INFANTS ,UNIVERSITY research ,DRUG therapy - Abstract
We describe a case of a 7-month-old female who presented in acute liver failure with persistently elevated acetaminophen concentration secondary to repeated supratherapeutic doses of acetaminophen to manage fever. Keywords: Acetaminophen Therapy; Acetanilides; Anilides; Antidotes; Drugs and Therapies; Fomepizole Therapy; Gastroenterology; Health and Medicine; Hepatic Insufficiency; Hepatology; Liver Diseases and Conditions; Liver Failure; Pediatrics; Pharmaceuticals; Risk and Prevention EN Acetaminophen Therapy Acetanilides Anilides Antidotes Drugs and Therapies Fomepizole Therapy Gastroenterology Health and Medicine Hepatic Insufficiency Hepatology Liver Diseases and Conditions Liver Failure Pediatrics Pharmaceuticals Risk and Prevention 1087 1087 1 09/25/23 20230925 NES 230925 2023 SEP 25 (NewsRx) -- By a News Reporter-Staff News Editor at Clinical Trials Week -- Current study results on liver failure have been published. [Extracted from the article]
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- 2023
13. Rifampicin, not vitamin E, suppresses parenteral nutrition-associated liver disease development through the pregnane X receptor pathway in piglets
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Gregory Guthrie, Charlotte Lauridsen, Douglas G. Burrin, Shaji Chacko, Barbara Stoll, Jogchum Plat, Nutrition and Movement Sciences, and RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health
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0301 basic medicine ,Parenteral Nutrition ,Physiology ,medicine.medical_treatment ,Sus scrofa ,parenteral nutrition-associated liver disease ,INFANTS ,vitamin E ,Pharmacology ,Liver Diseases/etiology ,rifampicin ,Liver disease ,chemistry.chemical_compound ,ABC TRANSPORTERS ,Liver/drug effects ,Cytochrome P-450 CYP3A ,Glucuronosyltransferase ,Phospholipids ,FISH-OIL ,Hyperbilirubinemia ,Pregnane X receptor ,Liver Diseases ,ALPHA-TOCOPHEROL ,Gastroenterology ,Pregnane X Receptor ,Cytochrome P-450 CYP3A/metabolism ,Fish oil ,Liver ,FAT OVERLOAD SYNDROME ,ACID ,alfa-tocopherol ,Emulsions ,Rifampin ,medicine.drug ,Research Article ,Signal Transduction ,EXPRESSION ,Fat Emulsions, Intravenous ,Bile Acids and Salts/biosynthesis ,Hyperbilirubinemia/etiology ,METABOLISM ,Bile Acids and Salts ,03 medical and health sciences ,Pregnane X Receptor/agonists ,Cholestasis ,Physiology (medical) ,medicine ,Animals ,Vitamin E/pharmacology ,030109 nutrition & dietetics ,Hepatology ,business.industry ,Vitamin E ,bile acid metabolism ,Cholestasis/etiology ,LIPID EMULSION ,medicine.disease ,Soybean Oil ,Disease Models, Animal ,030104 developmental biology ,Parenteral nutrition ,chemistry ,Animals, Newborn ,Glucuronosyltransferase/metabolism ,BILE ,alpha-Tocopherol ,business ,Rifampin/pharmacology ,cholestasis ,Rifampicin - Abstract
Infants receiving long-term parenteral nutrition (PN) develop PN-associated liver disease (PNALD). We previously (Ng K et al. JPEN J Parenter Enteral Nutr 40: 656–671, 2016. doi: 10.1177/0148607114567900 .) showed that PN containing soy-based lipid supplemented with vitamin E (α-tocopherol) prevents the development of PNALD. We hypothesize that this occurs via vitamin E activation of pregnane X receptor (PXR)-mediated pathways involved in bile acid metabolism. Neonatal piglets received PN for 14 days containing Intralipid (IL; soy-based lipid emulsion), IL supplemented with 12.6 mg·kg−1·day−1vitamin E (VITE), or IL with 10 mg·kg−1·day−1Rifadin IV (RIF), a PXR agonist. Pigs treated with IL and VITE, but not RIF, developed cholestasis and hyperbilirubinemia, markers of liver disease. The hepatic PXR target genes CYP3A29 and UGT1A6 increased during RIF treatment. RIF also modestly increased metabolism of chenodeoxycholic acid to the more hydrophilic bile acid hyocholic acid. Serum fibroblast growth factor (FGF)-19, a key regulator in suppressing hepatic bile acid synthesis, significantly increased in the RIF group. We conclude rifampicin modified markers of PNALD development by increased metabolism of bile acids and potentially suppressed bile acid synthesis. Vitamin E was ineffective at high lipid doses in preventing PNALD.NEW & NOTEWORTHY Intravenous vitamin E and rifampicin were administered to neonatal piglets receiving parenteral nutrition to determine their efficacy in reducing the progression of parenteral nutrition-associated liver disease (PNALD). Rifampicin increased serum FGF-19 concentrations and synthesis of the bile acid hyocholic acid which led to a reduction of PNALD parameters at 2 wk of administration. This result has potential clinical implications for the use of rifampicin as a safe and inexpensive treatment for short-term development of PNALD.
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- 2020
14. Bambino Gesu Children's Hospital and Research Institute Reports Findings in Liver Failure (A simplified protocol of regional citrate anticoagulation with phosphate-containing solutions in infants and children treated with continuous kidney...).
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LIVER failure ,CHILDREN'S hospitals ,INFANTS ,RESEARCH institutes ,CITRATES - Abstract
Keywords: Rome; Italy; Europe; Anions; Coagulation; Drugs and Therapies; Gastroenterology; Health and Medicine; Hematology; Hepatic Insufficiency; Hepatology; Liver Diseases and Conditions; Liver Failure; Pediatrics; Phosphates; Phosphoric Acids; Therapy EN Rome Italy Europe Anions Coagulation Drugs and Therapies Gastroenterology Health and Medicine Hematology Hepatic Insufficiency Hepatology Liver Diseases and Conditions Liver Failure Pediatrics Phosphates Phosphoric Acids Therapy 50 50 1 06/05/23 20230609 NES 230609 2023 JUN 10 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Liver Diseases and Conditions - Liver Failure is the subject of a report. Rome, Italy, Europe, Anions, Coagulation, Drugs and Therapies, Gastroenterology, Health and Medicine, Hematology, Hepatology, Hepatic Insufficiency, Liver Diseases and Conditions, Liver Failure, Pediatrics, Phosphates, Phosphoric Acids, Therapy. [Extracted from the article]
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- 2023
15. Researchers from Second Affiliated Hospital of Nantong University Detail Research in Acute Liver Failure (A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene).
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LIVER failure ,UNIVERSITY hospitals ,INFANTS ,UNIVERSITY research - Abstract
Keywords: Acute Liver Failure; Gastroenterology; Genetics; Health and Medicine; Hepatic Insufficiency; Hepatology; Liver Diseases and Conditions; Liver Failure EN Acute Liver Failure Gastroenterology Genetics Health and Medicine Hepatic Insufficiency Hepatology Liver Diseases and Conditions Liver Failure 410 410 1 05/02/23 20230501 NES 230501 2023 MAY 1 (NewsRx) -- By a News Reporter-Staff News Editor at Gastroenterology Week -- Data detailed on acute liver failure have been presented. Acute Liver Failure, Gastroenterology, Genetics, Health and Medicine, Hepatic Insufficiency, Hepatology, Liver Diseases and Conditions, Liver Failure. [Extracted from the article]
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- 2023
16. Adequacy criteria of Tru-cut needle liver biopsy in neonatal cholestasis
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Ahmad Mohamed Sira, Shymaa Galal Hegazy, Alif Allam, Doha Maher Taie, and Behairy E. Behairy
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Male ,medicine.medical_specialty ,Adequacy criteria ,Specialties of internal medicine ,Liver tissue ,medicine ,Humans ,In patient ,Neonatal cholestasis ,Fixation (histology) ,Retrospective Studies ,Cholestasis ,Hepatology ,medicine.diagnostic_test ,business.industry ,Biopsy, Needle ,Infant, Newborn ,Reproducibility of Results ,Sampling error ,Tru-cut needle ,General Medicine ,Equipment Design ,Liver biopsy ,RC581-951 ,Liver ,Female ,Radiology ,business ,Infants ,Liver pathology ,Follow-Up Studies - Abstract
Introduction/objectives: Assessment of liver biopsy sample adequacy criteria is essential to avoid sampling errors in patients with diffuse liver pathology. Many studies have evaluated these criteria in adults; however, no previous studies have been performed on neonatal liver disorders. We aimed to assess the adequacy criteria of Tru-cut needle liver biopsy samples in infants with neonatal cholestasis (NC). Methods: In a retrospective analysis of infants who underwent liver biopsy for NC within a one-year duration, 58 specimens were recruited. The core lengths after fixation were measured. All samples were acquired with a 16-gauge (G) Tru-cut needle. Serial shortening of these samples was performed to define the smallest core length that gives representative parenchyma that could determine the activity grade and fibrosis stage reported by larger cores. Results: It was found that a 4-mm core length with a complete portal tract (CPT) number of 8±3 could adequately assess the NC activity grade. In addition, a 6-mm core length with a CPT number of 11±3 could adequately estimate NC fibrosis stage. Conclusions: The adequacy criteria of liver tissue samples for the accurate assessment of NC are different from those defined for adult diffuse liver pathology. At least a 4-mm core length with a CPT number of 8±3 and a 6-mm core length with a CPT number of 11±3 acquired by a 16-G Tru-cut needle should be used to assess NC activity grade and fibrosis stage, respectively.
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- 2021
17. Gallstones in Egyptian infants and children: risk factors, complications and outcome: a single center experience
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Engy A. Mogahed, A. Enayet, Mona S. El-Raziky, R. A. Afifi, and M. A. K. Abdellatif
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medicine.medical_specialty ,Abdominal pain ,Pediatrics ,Complications ,lcsh:Surgery ,Gallstones ,Asymptomatic ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Internal medicine ,medicine ,lcsh:RC799-869 ,Risk factor ,Prospective cohort study ,Children ,Outcome ,General Environmental Science ,medicine.diagnostic_test ,business.industry ,lcsh:RD1-811 ,Hepatology ,medicine.disease ,Abdominal ultrasonography ,Abdominal examination ,General Earth and Planetary Sciences ,lcsh:Diseases of the digestive system. Gastroenterology ,030211 gastroenterology & hepatology ,medicine.symptom ,business ,Infants - Abstract
Background The widespread use of abdominal ultrasonography in children documented increased detection rate of gallstones. The aim of this study was to assess the possible risk factors of gallstones and to detect the complication rate and outcome of the disease in Egyptian infants and children from a hepatologist perspective. This prospective study included 35 cases, with ultrasound-detected gallstones, who presented to the Pediatric Hepatology Unit from July 2015 to October 2017. All patients were initially evaluated by full history, general and abdominal examination, laboratory assessment, and ultrasound findings to detect possible risk factors of gallstones. Management approach was individualized for each patient according to his/her condition, and the patients were followed up at 3 months interval. Results The patients’ ages ranged from 3.5 months up to 17 years. The median age of gallstone detection was 2 years. Gallstones were symptomatic in 62.9% with abdominal pain in 51.4%. Complications in the form of choledocholithiasis were detected in 7 patients (20%). Laparoscopic cholecystectomy was done for 7 patients while conservative management was applied for 24 patients. Complete resolution occurred in 8.3% and partial resolution in 33.3%. Chronic hemolytic anemia was the most commonly identified risk factor for gallstones. Patients needed surgical intervention had significant higher serum cholesterol and LDL levels (P = 0.006 and P = 0.002 respectively). Conclusion Risk factors for gallstones could be identified in most of pediatric cases. Symptomatic presentation is common among the pediatric population. Conservative management is recommended for asymptomatic cases of gallstones in children. Laparoscopic cholecystectomy is a safe and recommended procedure for complicated and symptomatic cases of gallstones.
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- 2020
18. Gut and immune effects of bioactive milk factors in preterm pigs exposed to prenatal inflammation
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Witold Kot, Yan Hui, Duc Ninh Nguyen, Stanislava Pankratova, Thomas Thymann, Shuqiang Ren, Xiaoyu Pan, Sandra Goericke-Pesch, and Per T. Sangild
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0301 basic medicine ,Lipopolysaccharides ,osteopontin ,Lipopolysaccharide ,Physiology ,Sus scrofa ,INFANTS ,chemistry.chemical_compound ,0302 clinical medicine ,Pregnancy ,INFECTION ,Medicine ,Osteopontin ,Prenatal inflammation ,biology ,lipopolysaccharide ,Gastroenterology ,Caseins ,preterm pigs ,Infant Formula ,caseinoglycomacropeptide ,Intestines ,Chorioamnionitis ,prenatal inflammation ,Food, Fortified ,Premature Birth ,030211 gastroenterology & hepatology ,Female ,PREVENT NECROTIZING ENTEROCOLITIS ,Nutritive Value ,BIRTH ,BOVINE COLOSTRUM ,Gestational Age ,Permeability ,Cell Line ,03 medical and health sciences ,Enterocolitis, Necrotizing ,RISK-FACTOR ,Physiology (medical) ,Animals ,Humans ,Risk factor ,Immunity, Mucosal ,FORMULA ,Hepatology ,business.industry ,Colostrum ,Infant, Newborn ,Immune effects ,Epithelial Cells ,Peptide Fragments ,Gastrointestinal Microbiome ,Disease Models, Animal ,030104 developmental biology ,chemistry ,Animals, Newborn ,Intestinal Absorption ,Immunology ,biology.protein ,business ,RESISTANCE ,HISTOLOGICAL CHORIOAMNIONITIS - Abstract
Prenatal inflammation may predispose to preterm birth and postnatal inflammatory disorders such as necrotizing enterocolitis (NEC). Bioactive milk ingredients may help to support gut maturation in such neonates, but mother’s milk is often insufficient after preterm birth. We hypothesized that supplementation with bioactive ingredients from bovine milk [osteopontin (OPN), caseinoglycomacropeptide (CGMP), colostrum (COL)] supports gut, immunity, and NEC resistance in neonates born preterm after gram-negative infection before birth. Using preterm pigs as a model for preterm infants, fetal pigs were given intraamniotic injections of lipopolysaccharide (LPS; 1 mg/fetus) and delivered 3 days later (90% gestation). For 5 days, groups of LPS-exposed pigs were fed formula (FOR), bovine colostrum (COL), or formula enriched with OPN or CGMP. LPS induced intraamniotic inflammation and postnatal systemic inflammation but limited effects on postnatal gut parameters and NEC. Relative to FOR, COL feeding to LPS-exposed pigs showed less diarrhea, NEC severity, reduced gut IL-1β and IL-8 levels, greater gut goblet cell density and digestive enzyme activities, and blood helper T-cell fraction. CGMP improved neonatal arousal and gut lactase activities and reduced LPS-induced IL-8 secretion in intestinal epithelial cells (IECs) in vitro. Finally, OPN tended to reduce diarrhea and stimulated IEC proliferation in vitro. No effects on villus morphology, circulating cytokines, or colonic microbiota were observed among groups. In conclusion, bioactive milk ingredients exerted only modest effects on gut and systemic immune parameters in preterm pigs exposed to prenatal inflammation. Short-term, prenatal exposure to inflammation may render the gut less sensitive to immune-modulatory milk effects. NEW & NOTEWORTHY Prenatal inflammation is a risk factor for preterm birth and postnatal complications including infections. However, from clinical studies, it is difficult to separate the effects of only prenatal inflammation from preterm birth. Using cesarean-delivered preterm pigs with prenatal inflammation, we documented some beneficial gut effects of bioactive milk diets relative to formula, but prenatal inflammation appeared to decrease the sensitivity of enteral feeding. Special treatments and diets may be required for this neonatal population.
- Published
- 2019
19. Esophageal pH-impedance monitoring in children. position paper on indications, methodology and interpretation by the SIGENP working group
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Valentina Mancini, Osvaldo Borrelli, Saverio Mallardo, Tamara Caldaro, Renato Tambucci, Paolo Rossi, Annamaria Staiano, Francesco Cresi, Ruggiero Francavilla, Fernanda Cristofori, Mariella Baldassarre, Licia Pensabene, Silvia Salvatore, Elena Maggiora, Giovanni Di Nardo, and Paolo Quitadamo
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medicine.medical_specialty ,Esophageal pH Monitoring ,Nutritional Status ,Scientific evidence ,Esophageal ph ,03 medical and health sciences ,Esophagus ,0302 clinical medicine ,children ,gastro-esophageal reflux ,infants ,pH-impedance ,Medical ,Internal medicine ,Esophagitis ,Humans ,Medicine ,Children ,Gastro-esophageal reflux ,Infants ,Child ,Child, Preschool ,Esophagitis, Peptic ,Gastroesophageal Reflux ,Infant ,Italy ,Societies, Medical ,Preschool ,Intensive care medicine ,Pediatric gastroenterology ,Peptic ,Hepatology ,medicine.diagnostic_test ,business.industry ,Gold standard ,Gastroenterology ,Neurogastroenterology ,030220 oncology & carcinogenesis ,Position paper ,030211 gastroenterology & hepatology ,Societies ,business ,Esophageal pH monitoring - Abstract
Multichannel intraluminal impedance pH (MII-pH) monitoring currently represents the gold standard diagnostic technique for the detection of gastro-esophageal reflux (GER), since it allows to quantify and characterize all reflux events and their possible relation with symptoms. Over the last ten years, thanks to its strengths and along with the publication of several clinical studies, its worldwide use has gradually increased, particularly in infants and children. Nevertheless, factors such as the limited pediatric reference values and limited therapeutic options still weaken its current clinical impact. Through an up-to-date review of the available scientific evidence, our aim was to produce a position paper on behalf of the working group on neurogastroenterology and acid-related disorders of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) on MII-pH monitoring technique, indications and interpretation in pediatric age, in order to standardise its use and to help clinicians in the diagnostic approach to children with GER symptoms.
- Published
- 2019
20. The Magnesium-rich formula for functional constipation in infants: A randomized comparator-controlled study
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Benninga, Marc A., Vandenplas, Yvan, Bassil, Ziad, Sokhn, Maroun, Sayad, Alain, Semaan, Firas, Eid, Bassam, Cheriathu, Jenny, Abdallah, Ayman, Ghauhar, Shahid, el Sabea, Hassan, Al Mahmoud, Ahmed Abdulattif, Sathyanarayanan, Varadarajulu, Shalabi, Zuhair Abbas, Rizk, Tamer Mohamed Gaber, Fawzi, Eman, Ammar, Tarek Galal, Farid, Waleed, Emara, Ihab, Kamalo, Mohamad, el Daif, Saleh, MENA Infant Constipation Study Group, Paediatric Gastroenterology, AGEM - Digestive immunity, AGEM - Re-generation and cancer of the digestive system, Amsterdam Reproduction & Development (AR&D), Clinical sciences, Growth and Development, and Pediatrics
- Subjects
Pediatrics ,medicine.medical_specialty ,Normal consistency ,Constipation ,Physical examination ,Nutrition therapy ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,medicine ,Magnesium ,Medical nutrition therapy ,Defecation ,Hepatology ,medicine.diagnostic_test ,business.industry ,Gastroenterology ,infant formula ,constipation ,medicine.disease ,Infant formula ,Baseline characteristics ,Pediatrics, Perinatology and Child Health ,Functional constipation ,Original Article ,030211 gastroenterology & hepatology ,medicine.symptom ,business ,Infants - Abstract
Purpose: To compare the effectiveness of the magnesium (Mg)-enriched formula vs. control formula in constipated infants. Methods: An open-label, interventional, and the comparator-controlled study was conducted to evaluate the effectiveness of the Mg-enriched formula in formula-fed infants ≤6 months old presenting with functional constipation according to modified Rome IV criteria. Infants were randomized 1:1 to intervention or control formula for 30 days. Parents recorded stool consistency (hard, normal, or watery) and frequency on days 1-7 and 23-29. Physicians recorded patient baseline characteristics and performed the clinical examination at the time of three patient visits (baseline, day 8, and 30). Results: Of the 286 recruited infants, 143 received the Mg-rich formula and 142 received the control formula. After 7 days, significantly more infants had stools with normal consistency with the Mg-rich formula compared to the infants fed with the control formula (81.8% vs. 41.1%; p < 0.001). The number of infants passing one or more stools per day was increased at day 7 in the Mg-rich formula group (86.7% vs. 68.2%; p < 0.001). At days 7 and 29, > 25% of infants responded completely to the Mg-rich formula compared to < 5% of infants fed with the control formula (p < 0.001). Parents of infants in the Mg-rich formula group were very satisfied with the treatment (80.8% vs. 10.2%), with the majority willing to continue treatment after 30 days (97.9% vs. 52.6%; p < 0.001). Conclusion: The Mg-rich formula significantly improved stool consistency and frequency compared to the control formula in constipated infants.
- Published
- 2019
21. Laparoscopic antireflux surgery increases health-related quality of life in children with GERD
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Maud Y. A. van Herwaarden-Lindeboom, Cornelius E. J. Sloots, Femke A. Mauritz, Peter D. Siersema, Roderick H. J. Houwen, Rebecca K. Stellato, David C. van der Zee, L. W. Ernst van Heurn, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Paediatric Surgery, RS: NUTRIM - R2 - Liver and digestive health, Surgery, RS: NUTRIM - R1 - Metabolic Syndrome, and Gastroenterology & Hepatology
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Male ,Pediatrics ,PH ,SATISFACTION ,medicine.medical_treatment ,Health Status ,INFANTS ,Fundoplication ,GASTROESOPHAGEAL-REFLUX DISEASE ,Disease ,Nissen fundoplication ,Gastroenterology ,Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14] ,0302 clinical medicine ,Quality of life ,Prospective Studies ,Antireflux surgery ,Prospective cohort study ,Child ,Children ,Pediatric ,humanities ,Treatment Outcome ,NISSEN FUNDOPLICATION ,030220 oncology & carcinogenesis ,Child, Preschool ,PEDSQL(TM)-4.0 ,RELIABILITY ,Gastroesophageal Reflux ,030211 gastroenterology & hepatology ,Female ,Psychosocial ,medicine.medical_specialty ,FEASIBILITY ,Reflux ,Article ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,VALIDITY ,business.industry ,GERD ,Hepatology ,PEDIATRIC POPULATION ,medicine.disease ,Surgery ,Laparoscopy ,business ,Abdominal surgery - Abstract
Contains fulltext : 177152.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Improving health-related quality of life (HRQoL) is increasingly recognized as an essential part of patient care outcome. Little is known about the effect of laparoscopic antireflux surgery (LARS) on the HRQoL in the pediatric patients. The aims of this study were to evaluate the effect of LARS on HRQoL in children with gastroesophageal reflux disease (GERD) and to identify predictors that influence HRQoL outcome after LARS. METHODS: Between 2011 and 2013, 25 patients with therapy-resistant GERD [median age 6 (2-18) years] were included prospectively. Caregivers and children with normal neurodevelopment (>4 years) were asked to fill out the validated PedsQL 4.0 Generic Core Scales before and 3-4 months after LARS. RESULTS: The PedsQL was completed by all caregivers (n = 25) and 12 children. HRQoL total score improved significantly after LARS, both from a parental (p = 0.009) and child's perspective (p = 0.018). The psychosocial health summary and physical health summary scores also improved significantly after LARS. HRQoL before and after LARS was significantly lower in children with impaired neurodevelopment (p < 0.001). However, neurodevelopment did not influence the effect of LARS on HRQoL. The only significant predictor for improvement in HRQoL after LARS was age at the time of operation (p = 0.001). CONCLUSIONS: HRQoL significantly improves after LARS. Although children with impaired neurodevelopment had lower overall HRQoL, neurodevelopment by itself does not predict inferior improvement in HRQoL after LARS. Older children have a more favorable HRQoL outcome after LARS compared to younger children. This may suggest caution when considering LARS in younger GERD patients.
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- 2017
22. Xyloglucan for the treatment of acute gastroenteritis in children: results of a randomized controlled, clinical trial
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Cătălin Pleșea Condratovici, Vladimir Bacarea, and Núria Piqué
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Diarrhea ,medicine.medical_specialty ,Pediatrics ,Article Subject ,Antibiòtics ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Clinical trials ,Intestinal mucosa ,Antibiotics ,Internal medicine ,Gastrointestinal mucosa ,medicine ,lcsh:RC799-869 ,Children ,Hepatology ,business.industry ,Gastroenterology ,Diary card ,Mucosa gastrointestinal ,Acute gastroenteritis ,Gastroenteritis ,Clinical trial ,Xyloglucan ,chemistry ,030220 oncology & carcinogenesis ,Rapid onset ,Clinical Study ,lcsh:Diseases of the digestive system. Gastroenterology ,030211 gastroenterology & hepatology ,Onset of action ,business ,Diarrea ,Infants ,Assaigs clínics - Abstract
Background. Xyloglucan, a film-forming agent, improves intestinal mucosa resistance to pathologic damage. The efficacy, safety, and time of onset of the antidiarrheal effect of xyloglucan were assessed in children with acute gastroenteritis receiving oral rehydration solution (ORS).Methods. This randomized, controlled, open-label, parallel-group, multicenter, clinical trial included children (3 months–12 years) with acute gastroenteritis of infectious origin. Children were randomized to xyloglucan and ORS, or ORS only, for 5 days. Diarrheal symptoms, including stool number/characteristics, and safety were assessed at baseline and after 2 and 5 days and by fulfillment of a parent diary card.Results. Thirty-six patients (58.33% girls) were included (n=18/group). Patients receiving xyloglucan and ORS had better symptom evolution than ORS-only recipients, with a faster onset of action. At 6 hours, xyloglucan produced a significantly greater decrease in the number of type 7 stools (0.11 versus 0.44;P=0.027). At days 3 and 5, xyloglucan also produced a significantly greater reduction in types 6 and 7 stools compared with ORS alone. Xyloglucan plus ORS was safe and well tolerated.Conclusions. Xyloglucan is an efficacious and safe option for the treatment of acute gastroenteritis in children, with a rapid onset of action in reducing diarrheal symptoms. This study is registered with ISRCTN number65893282.
- Published
- 2016
23. An Electronic Questionnaire Survey Evaluating the Perceived Prevalence and Practices of Lactose Intolerance in 1 to 5 Year Old Children in South East Asia
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Badriul Hegar, Jacques Bindels, Yvan Vandenplas, Leilani Muhardi, Seng Hock Quak, Thomas Ludwig, Seksit Osatakul, Michelle Li Nien Tan, Eline M. van der Beek, Growth and Development, Clinical sciences, Pediatrics, Center for Liver, Digestive and Metabolic Diseases (CLDM), and Reproductive Origins of Adult Health and Disease (ROAHD)
- Subjects
0301 basic medicine ,Secondary ,medicine.medical_specialty ,Diagnostic methods ,Healthcare providers ,INFANTS ,South East Asia ,03 medical and health sciences ,0302 clinical medicine ,Health care ,Epidemiology ,medicine ,Pediatrics, Perinatology, and Child Health ,030212 general & internal medicine ,South east asia ,Survey ,Lactose intolerance ,030109 nutrition & dietetics ,Hepatology ,LACTASE DEFICIENCY ,business.industry ,Dietary intake ,Incidence (epidemiology) ,Gastroenterology ,Questionnaire ,medicine.disease ,Management ,Family medicine ,Pediatrics, Perinatology and Child Health ,Original Article ,NUTRITION ,business ,Primary - Abstract
Purpose: Lactose intolerance (LI) is perceived to be frequent in Asia and has been reported to have considerable impact on dietary intake, nutritional status and the quality of life. We aimed to gather information from healthcare professionals on the perceived incidence, diagnosis and management of LI in 1 to 5 year old children in Southeast Asia.Methods: An anonymous electronic survey was sent randomly among healthcare professionals registered in the database of the pediatric societies in Thailand, Indonesia, and Singapore between June and October 2016.Results: In total, 259 health care professionals responded of which 45.5% (n=118) were from Thailand, 37.4% (n=97) from Indonesia and 16.9% (n=44) from Singapore. Of the participants who responded (n=248), primary LI prevalence among children 1 to 3 years of age was estimated to be less than 5% by 56.8%. However, about 18.9% (n=47) answered they did not know/unsure. Regarding secondary LI, 61.6% of respondents (n=153) estimated the prevalence to be less than 15%. But again, 10.8% (n=27) answered they did not know or unsure. Rotavirus gastroenteritis was ranked as the top cause for secondary LI. There was considerable heterogeneity in the diagnostic methods used. The majority of respondents (75%) recommended lactose-free milk to manage primary and secondary LI.Conclusion: More education/training of pediatricians on this topic and further epidemiological studies using a more systematic approach are required.
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- 2018
24. Beyond plasma bilirubin: the effects of herapy and albumin on brain bilirubin levels in Gunn rats
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Charles E. Ahlfors, Christian V. Hulzebos, Renata Koníčková, Henkjan J. Verkade, Jana Vanikova, Andrea B. Schreuder, Libor Vítek, Deirdre E. van Imhoff, Frans J C Cuperus, Center for Liver, Digestive and Metabolic Diseases (CLDM), Lifestyle Medicine (LM), and Reproductive Origins of Adult Health and Disease (ROAHD)
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Male ,medicine.medical_specialty ,KERNICTERUS ,Bilirubin ,Crigler–Najjar syndrome ,UNCONJUGATED HYPERBILIRUBINEMIA ,Rats, Gunn ,Jaundice ,INFANTS ,EXCHANGE TRANSFUSIONS ,chemistry.chemical_compound ,Random Allocation ,Internal medicine ,Albumins ,UNBOUND BILIRUBIN ,Medicine ,Animals ,INFUSION THERAPY ,Molecular gastro-enterology and hepatology [IGMD 2] ,Unconjugated hyperbilirubinemia ,Hyperbilirubinemia ,INTENSIVE PHOTOTHERAPY ,Hepatology ,business.industry ,Albumin ,Brain ,ENCEPHALOPATHY ,Phototherapy ,medicine.disease ,Gunn rat ,Rats ,Disease Models, Animal ,Endocrinology ,chemistry ,NEONATAL JAUNDICE ,Free fraction ,Anesthesia ,embryonic structures ,Acute Disease ,Chronic Disease ,Kernicterus ,medicine.symptom ,business ,CRIGLER-NAJJAR SYNDROME - Abstract
Severe unconjugated hyperbilirubinemia, as occurs in Crigler-Najjar disease and neonatal jaundice, carries the risk of neurotoxicity. This neurotoxicity is related to the increased passage of free bilirubin (UCB(free)), the fraction of bilirubin that is not bound to plasma proteins, into the brain. We hypothesized that albumin treatment would lower the UCB(free) fraction, and thus decrease bilirubin accumulation in the brain.We treated chronic (e.g., as a model for Crigler-Najjar disease) and acute hemolytic (e.g., as a model for neonatal jaundice) moderate hyperbilirubinemic Gunn rats with phototherapy, human serum albumin (HSA) or phototherapy+HSA.In the chronic model, adjunct HSA increased the efficacy of phototherapy; it decreased plasma UCB(free) and brain bilirubin by 88% and 67%, respectively (p0.001). In the acute model, adjunct HSA also increased the efficacy of phototherapy; it decreased plasma UCB(free) by 76% (p0.001) and completely prevented the hemolysis-induced deposition of bilirubin in the brain. Phototherapy alone failed to prevent the deposition of bilirubin in the brain during acute hemolytic jaundice.We showed that adjunct HSA treatment decreases brain bilirubin levels in phototherapy-treated Gunn rats. We hypothesize that HSA decreases these levels by lowering UCB(free) in the plasma. Our results support the feasibility of adjunct albumin treatment in patients with Crigler-Najjar disease or neonatal jaundice.
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- 2013
25. Effect of Helicobacter pylori infection on symptoms of gastroenteritis due to enteropathogenic Escherichia coli in adults
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Thomas D. Haggerty, Alicia H. Chang, Catherine de Martel, Cynthia W. Leung, Julie Parsonnet, and University of Groningen
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BACTERIAL ,Physiology ,INFANTS ,CHILDREN ,Gastroenterology ,2-Pyridinylmethylsulfinylbenzimidazoles ,COLONIZATION ,Enteropathogenic Escherichia coli ,Feces ,Risk Factors ,STOMACH ,Medicine ,EPIDEMIOLOGY ,Pantoprazole ,POPULATION ,education.field_of_study ,biology ,Middle Aged ,Gastroenteritis ,Diarrhea ,medicine.symptom ,Adult ,medicine.medical_specialty ,Interaction ,medicine.drug_class ,Population ,Proton-pump inhibitor ,ILLNESS ,Article ,Helicobacter Infections ,Internal medicine ,DIARRHEAL DISEASE ,Humans ,Hypochlorhydria ,Risk factor ,education ,Helicobacter pylori ,business.industry ,Odds ratio ,Hepatology ,biology.organism_classification ,bacterial infections and mycoses ,Anti-Ulcer Agents ,GASTRIC-ACIDITY ,Immunology ,business - Abstract
Helicobacter pylori can cause hypochlorhydria in some hosts and predispose to diarrheal infections. We tested the hypothesis that chronic H. pylori infection increases the risk of diarrheal illness due to an acid-sensitive organism: enteropathogenic Escherichia coli (EPEC). After testing healthy adult volunteers for H. pylori, 19 infected and 26 uninfected subjects had gastric pH probes placed and were given 5-10 x 10(9) EPEC organisms; six had previously received a proton pump inhibitor. We measured diarrhea and created a composite gastroenteritis severity score based on symptoms in the 48 h following exposure. Outcomes were compared using logistic regression and analysis of covariance. More H. pylori-infected (36.8%) than H. pylori-uninfected subjects (7.7%) were hypochlorhydric (P = 0.02). Six (31.6%) H. pylori-infected and five H. pylori-uninfected subjects (19.2%) developed diarrhea (P = 0.34). Hypochlorhydria was a strong risk factor for diarrhea [odds ratio (OR) 6.25, confidence interval (CI): 1.29-30.35]. After adjusting for hypochlorhydria and EPEC dose, H. pylori was not associated with diarrhea (OR 0.89, CI: 0.17-4.58). Among those with symptoms, H. pylori-infected subjects had lower gastroenteritis severity score than did H. pylori-uninfected subjects (2.6, CI: 1.9-3.4 versus 1.5, CI: 1.1-1.9, P = 0.01), particularly if they were also hypochlorhydric (3.8, CI: 2.3-5.3 versus 1.9, CI: 1.3-2.5, P = 0.02). In adults, H. pylori infection was associated with hypochlorhydria but had no detectable effect on occurrence of diarrhea. Among symptomatic subjects, H. pylori infection decreased severity of gastroenteritis.
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- 2010
26. Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy
- Author
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Olivier Hermine, Olivier Goulet, Bernadette Bègue, Edmond H. H. M. Rings, Marie-Claude Stolzenberg, Julien Verdier, Capucine Picard, Armand Biver, Hugues Piloquet, Benedicte Neven, Corinne Ruemmele, Alain Fischer, Natacha Patey, Troy Torgerson, Nicolette Moes, Anne Breton, Frédéric Rieux-Laucat, Jean-Laurent Casanova, Nadine Cerf-Bensussan, Frank M. Ruemmele, Hans D. Ochs, Institut de Recherche en Génie Civil et Mécanique (GeM), Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN)-École Centrale de Nantes (ECN)-Centre National de la Recherche Scientifique (CNRS), STMicroelectronics [Crolles] (ST-CROLLES), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Danone Research, Groupe DANONE, Cytokines, hématopoïèse et réponse immune (CHRI), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physique des Lasers (LPL), Université Paris 13 (UP13)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche en Génie Civil et Mécanique ( GeM ), Université de Nantes ( UN ) -École Centrale de Nantes ( ECN ) -Centre National de la Recherche Scientifique ( CNRS ), STMicroelectronics [Crolles] ( ST-CROLLES ), Institut de biologie et chimie des protéines [Lyon] ( IBCP ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique ( CNRS ), Cytokines, hématopoïèse et réponse immune ( CHRI ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Physique des Lasers ( LPL ), Université Paris 13 ( UP13 ) -Université Sorbonne Paris Cité ( USPC ) -Institut Galilée-Centre National de la Recherche Scientifique ( CNRS ), Université de Nantes - Faculté des Sciences et des Techniques, and Université Sorbonne Paris Cité (USPC)-Institut Galilée-Université Paris 13 (UP13)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Male ,FEATURES ,medicine.disease_cause ,Severity of Illness Index ,T-Lymphocytes, Regulatory ,Regulatory T Cells ,Autoimmunity ,0302 clinical medicine ,IL-2 receptor ,Age of Onset ,POLYENDOCRINOPATHY ,Child ,Promoter Regions, Genetic ,Cells, Cultured ,ComputingMilieux_MISCELLANEOUS ,0303 health sciences ,Microscopy, Confocal ,Reverse Transcriptase Polymerase Chain Reaction ,MTOR ,Gastroenterology ,FOXP3 ,Forkhead Transcription Factors ,X-LINKED SYNDROME ,Flow Cytometry ,3. Good health ,DEFICIENCY ,medicine.anatomical_structure ,Treatment Outcome ,Child, Preschool ,Female ,Parenteral Nutrition, Total ,Infants ,Immunosuppressive Agents ,Regulatory T cell ,Down-Regulation ,Biology ,Autoimmune enteropathy ,Autoimmune Diseases ,03 medical and health sciences ,Open Reading Frames ,AIRE ,medicine ,Humans ,RNA, Messenger ,CD25 ,Gene ,Transcription factor ,030304 developmental biology ,IMMUNE DYSREGULATION ,Autoimmune Enteropathy ,Hepatology ,MUTATIONS ,Infant, Newborn ,Interleukin-2 Receptor alpha Subunit ,Infant ,IPEX syndrome ,medicine.disease ,GENE ,Coculture Techniques ,CD4 Lymphocyte Count ,Intestinal Diseases ,Case-Control Studies ,Immunology ,Mutation ,SYNDROME IPEX ,030215 immunology - Abstract
BACKGROUND & AIMS: Little is known about the pathophysiology of early onset forms of autoimmune enteropathy (AIE). AIE has been associated with mutations in FOXP3-a transcription factor that controls regulatory T-cell development and function. We analyzed the molecular basis of neonatal or early postnatal AIE using clinical, genetic, and functional immunological studies. METHODS: Gastroenterological and immunological features were analyzed in 9 boys and 2 girls with AIE that began within the first 5 months of life. FOXP3 and IL2RA were genotyped in peripheral blood monocytes. FOXP3 messenger RNA and protein expression were analyzed using reverse-transcription polymerase chain reaction, flow cytometry, and confocal immunofluorescence of CD4(+) T cells. Regulatory T-cell function (CD4(+)CD25(+)) was assayed in coculture systems. RESULTS: AIE associated with extraintestinal autoimmunity was severe and life-threatening; all patients required total parenteral nutrition. Regulatory T cells from 7 patients had altered function and FOXP3 mutations that resulted in lost or reduced FOXP3 protein expression; 2 infants had reduced regulatory T-cell activity and reduced levels of FOXP3 protein, although we did not detect mutations in FOXP3 coding region, poly-A site, or promoter region (called FOXP3-dependent AIE). Two patients had a normal number of regulatory T cells that expressed normal levels of FOXP3 protein and normal regulatory activity in in vitro coculture assays (called FOXP3-independent AIE). No mutations in IL2RA were found. CONCLUSIONS: Most cases of AIE are associated with alterations in regulatory T-cell function; some, but not all, cases have mutations that affect FOXP3 expression levels. Further studies are needed to identify mechanisms of AIE pathogenesis.
- Published
- 2010
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