Clinical and Genetic Study of Children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation.

Abstract:

OBJECTIVES:The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics. METHOD:In this observational cohort study, the clinical characteristics of 18 families diagnosed with pediatric PJS were collected. Genomic DNA from the peripheral blood of affected children and their family members was collected. The coding region of STK11 was amplified by PCR and screened for mutation by Sanger sequencing. The families that were negative for STK11 mutation were further assessed by multiplex ligation-dependent probe amplification (MLPA). RESULT:Initial presentation in affected children was at 1.6 to 14.2 years and included anemia in 8 patients whereas 6 presented for screening by virtue of family history. All patients underwent endoscopy, colonoscopy, and polypectomy. Polyps were distributed throughout the gastrointestinal (GI) tract, including the small intestine, stomach, colon, and rectum.In the 18 pediatric PJS families, STK11 mutations were detected in 8 families by Sanger sequencing, and large deletions were detected in 3 by MLPA, respectively. Nine of the 11 STK11 mutations were de novo, 3 were novel (c.419T>C:p.L140P, c.314T>G:p.L105X), and (c.488_489insACGG p.L164fs). CONCLUSIONS:Although the main clinical features of pediatric PJS were similar to those of PJS cases in adults, a high frequency of STK11 de novo mutations were encountered in our population of patients with PJS.

authors

Zhao HM,Yang YJ,Duan JQ,Ouyang HJ,Liu L,Yi LC,Xiao ZH,Zheng Y,Peng L,Attard TM,Li DY,You JY

doi

10.1097/MPG.0000000000002166

subject

Has Abstract

pub_date

2019-02-01 00:00:00

pages

199-206

issue

2

eissn

0277-2116

issn

1536-4801

journal_volume

68

pub_type

杂志文章
  • Isolated liver transplant in infants with short bowel syndrome: insights into outcomes and prognostic factors.

    abstract:OBJECTIVE:Selected infants with short bowel syndrome (SBS) and progressive intestinal failure associated liver disease (IFALD) may benefit from isolated liver transplantation (iLTx). The aim of the study is to identify risk factors for unfavourable outcome in iLTx. PATIENTS AND METHODS:A retrospective review of medica...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/mpg.0b013e31818c6099

    authors: Dell-Olio D,Beath SV,de Ville de Goyet J,Clarke S,Davies P,Lloyd C,Protheroe S,Millar AJ,Kelly DA,Gupte GL

    更新日期:2009-03-01 00:00:00

  • Small bowel obstruction in chronic granulomatous disease.

    abstract::Intestinal obstruction, enteritis, and colitis have been reported in patients with previously documented chronic granulomatous disease (CGD). We describe here an 11-year-old boy whose initial presentation was compatible with inflammatory bowel disease. A mild but persistent dermatitis was his only other manifestation ...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-198409000-00028

    authors: Lindahl JA,Williams FH,Newman SL

    更新日期:1984-09-01 00:00:00

  • Calcium metabolism in children during long-term total parenteral nutrition: the influence of calcium, phosphorus, and vitamin D intakes.

    abstract::Hypercalciuria and bone disease are frequently associated with total parenteral nutrition (TPN) in children and adults. The aim of this study was to assess the influence of calcium, phosphorus, and vitamin D intakes on hypercalciuria. We observed seven children aged 4-13 years receiving home cyclic TPN for 4 consecuti...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-199111000-00006

    authors: Larchet M,Garabédian M,Bourdeau A,Gorski AM,Goulet O,Ricour C

    更新日期:1991-11-01 00:00:00

  • Reasoning Beyond the Potential Use of Exclusive Enteral Nutrition and Other Specified Diets in Children With Ulcerative Colitis.

    abstract::The incidence of inflammatory bowel disease (IBD) is steadily on the rise in Western and in developing countries paralleling the increase of westernized diets, characterized by high protein and fat as well as excessive sugar intake, with less vegetables and fiber. Furthermore, nutrition is involved in several aspects ...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,评审

    doi:10.1097/MPG.0000000000001785

    authors: Shaoul R,Brown S,Day AS

    更新日期:2018-03-01 00:00:00

  • Granulomatous Upper Gastrointestinal Inflammation in Pediatric Ulcerative Colitis.

    abstract:OBJECTIVES:Differentiating ulcerative colitis (UC) and Crohn disease (CD) can be clinically challenging, especially in children. Granulomatous inflammation has traditionally been attributed to CD. Crypt-associated giant cells and granulomas, however, have been observed in colonic biopsies of patients with UC. This phen...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000001771

    authors: Queliza K,Ihekweazu FD,Schady D,Jensen C,Kellermayer R

    更新日期:2018-04-01 00:00:00

  • Burden of illness in screen-detected children with celiac disease and their families.

    abstract:OBJECTIVES:Because of a variable clinical picture, most children with celiac disease remain unrecognized without active serologic screening. Because, however, many patients are asymptomatic, the justification for screening remains unclear. We assessed health and well-being and the effect of a 1-year gluten-free diet in...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0b013e31825f18ff

    authors: Kinos S,Kurppa K,Ukkola A,Collin P,Lähdeaho ML,Huhtala H,Kekkonen L,Mäki M,Kaukinen K

    更新日期:2012-10-01 00:00:00

  • Donor Human Milk and Fortifier Use in United States Level 2, 3, and 4 Neonatal Care Hospitals.

    abstract:OBJECTIVE:In 2011, the United States Surgeon General issued a call to action to "identify and address obstacles to greater availability of safe banked donor milk for fragile infants." The purpose of the present study is to analyze patterns in donor human milk (DHM) and fortifier use in level 2, 3, and 4 neonatal facili...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000001790

    authors: Perrin MT

    更新日期:2018-04-01 00:00:00

  • Use of Fully Covered Self-expanding Metal Biliary Stents in Pediatrics: A Case Series.

    abstract:OBJECTIVES:Endoscopic retrograde cholangiopancreatography is used to manage biliary pathology in pediatric patients. Plastic biliary stents have been used in this population for obstructive lesions and bile leaks; however, they are sometimes not effective due to migration, occlusion, or ineffective sealing. Fully cover...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000001723

    authors: Mark JA,Mack CL,Marwan AI,Kramer RE

    更新日期:2018-03-01 00:00:00

  • Ineffectiveness of breath methane excretion as a diagnostic test for lactose malabsorption.

    abstract: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 malabsorp...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-199905000-00006

    authors: Myo-Khin,Bolin TD,Khin-Mar-Oo,Tin-Oo,Kyaw-Hla S,Thein-Myint T

    更新日期:1999-05-01 00:00:00

  • Prolonged neonatal jaundice: a manifestation of heterozygote state for Crigler--Najjar syndrome?

    abstract::A prolonged but transient neonatal jaundice due to unconjugated hyperbilirubinemia was observed in two unrelated babies who were siblings of patients with Crigler--Najjar disease (Arias type I). The bilirubin-UDP-glucuronyl transferase activity measured in the liver of both patients, at the age of 6 and 7 months, resp...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:

    authors: Odièvre M,Luzeau R,Alagille D

    更新日期:1982-01-01 00:00:00

  • Contamination of gastrostomy feeding systems in children in a home-based enteral nutrition program.

    abstract:BACKGROUND:There are few data concerning the risk of contamination of enteral feeding systems via gastrostomy in children, and none for conditions that pertain to home-based care. METHODS:To investigate the risk of contamination of enteral feeding systems during the home-based care of 20 children receiving gastrostomy...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-200109000-00007

    authors: Bott L,Husson MO,Guimber D,Michaud L,Arnaud-Battandier F,Turck D,Gottrand F

    更新日期:2001-09-01 00:00:00

  • γ-Glutamyl transpeptidase level as a screening marker among diverse etiologies of infantile intrahepatic cholestasis.

    abstract:OBJECTIVES:Low γ-glutamyl transpeptidase (GGT) level is an important marker for progressive familial intrahepatic cholestasis, yet the cutoff level and clinical application is not well defined. This study aimed to evaluate the role of GGT as a screening marker among diverse etiologies of infantile cholestasis. METHODS...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000000538

    authors: Lu FT,Wu JF,Hsu HY,Ni YH,Chang MH,Chao CI,Chen HL

    更新日期:2014-12-01 00:00:00

  • Electrogastrography, Near-infrared Spectroscopy, and Acoustics to Measure Gastrointestinal Development in Preterm Babies.

    abstract:OBJECTIVES:The aim of the study was to obtain objective measures indicative of gastrointestinal maturity using 3 noninvasive technologies. METHODS:Electrogastrography (EGG), abdominal near-infrared spectroscopy (NIRS), and bowel sound/acoustics (AC) monitoring were used simultaneously to obtain physiologic measures of...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 临床试验,杂志文章

    doi:10.1097/MPG.0000000000001867

    authors: Ortigoza EB,Cagle J,Chien JH,Oh S,Brown LS,Neu J

    更新日期:2018-06-01 00:00:00

  • Practical approach to paediatric enteral nutrition: a comment by the ESPGHAN committee on nutrition.

    abstract::Enteral nutrition support (ENS) involves both the delivery of nutrients via feeding tubes and the provision of specialised oral nutritional supplements. ENS is indicated in a patient with at least a partially functioning digestive tract when oral intake is inadequate or intake of normal food is inappropriate to meet t...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,实务指引

    doi:10.1097/MPG.0b013e3181d336d2

    authors: Braegger C,Decsi T,Dias JA,Hartman C,Kolacek S,Koletzko B,Koletzko S,Mihatsch W,Moreno L,Puntis J,Shamir R,Szajewska H,Turck D,van Goudoever J,ESPGHAN Committee on Nutrition:.

    更新日期:2010-07-01 00:00:00

  • Differentiation of Colonic Inflammatory Bowel Disease: Re-examination of Paediatric Inflammatory Bowel Disease Classes Algorithm With Resected Colon As the Criterion Standard.

    abstract:OBJECTIVES:Differentiation of Crohn disease (CD) from ulcerative colitis (UC) is challenging when inflammation is predominantly colonic. The paediatric inflammatory bowel disease (PIBD) classes algorithm was developed to bring consistency to labelling, but used physician-assigned diagnosis as the criterion standard. We...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000002544

    authors: Dhaliwal J,Siddiqui I,Muir J,Rinawi F,Church PC,Walters TD,Griffiths AM

    更新日期:2020-02-01 00:00:00

  • Terminal ileum intubation in pediatric colonoscopy and diagnostic value of conventional small bowel contrast radiography in pediatric inflammatory bowel disease.

    abstract:BACKGROUND:Small bowel contrast radiography is often suggested as the first diagnostic tool in evaluating pediatric inflammatory bowel disease. The purpose of this study was to determine the sensitivity and specificity of small bowel radiography compared with terminal ileal biopsies in diagnosing pediatric inflammatory...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-200209000-00015

    authors: Batres LA,Maller ES,Ruchelli E,Mahboubi S,Baldassano RN

    更新日期:2002-09-01 00:00:00

  • Extensive and partial protein hydrolysate preterm formulas: the effect on growth rate, protein metabolism indices, and plasma amino acid concentrations.

    abstract:BACKGROUND:The use of protein hydrolysate preterm formulas is restricted because data on their nutritional adequacy are scarce. The authors evaluated the rate of growth and indices of protein metabolism in low-birth weight infants fed extensive and partial protein hydrolysate preterm formula followed for 12 weeks. MET...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1097/00005176-200103000-00013

    authors: Szajewska H,Albrecht P,Stoitiska B,Prochowska A,Gawecka A,Laskowska-Klita T

    更新日期:2001-03-01 00:00:00

  • Clear Liquid Versus Low-fibre Diet in Bowel Cleansing for Colonoscopy in Children: A Randomized Trial.

    abstract:OBJECTIVES:In light of a paucity of data on the role of diet in colonoscopy preparation in paediatric population, the present study was designed to compare the effectiveness of clear liquid and low-fibre diets for breakfast and lunch on the day preceding colonoscopy in children. METHODS:This prospective, randomised tr...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/MPG.0000000000001832

    authors: Mytyk A,Lazowska-Przeorek I,Karolewska-Bochenek K,Kakol D,Banasiuk M,Walkowiak J,Albrecht P,Banaszkiewicz A

    更新日期:2018-05-01 00:00:00

  • Double-blind, placebo-controlled trial comparing effects of supplementation with two different combinations of micronutrients delivered as sprinkles on growth, anemia, and iron deficiency in cambodian infants.

    abstract:OBJECTIVES:To assess and compare efficacy of two micronutrient sprinkle supplementation on growth, anemia, and iron deficiency in Cambodian infants. METHODS:A total of 204 infants aged 6 months and living in Kompong Chhnang Province, Cambodia were randomly assigned to receive daily supplements of either iron (12.5 mg)...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/01.mpg.0000189363.07040.4b

    authors: Giovannini M,Sala D,Usuelli M,Livio L,Francescato G,Braga M,Radaelli G,Riva E

    更新日期:2006-03-01 00:00:00

  • Long-chain PUFA in granulocytes, mononuclear cells, and RBC in patients with cystic fibrosis: relation to liver disease.

    abstract:BACKGROUND AND AIM:Patients with cystic fibrosis (CF) have low levels of n-3 long-chain polyunsaturated fatty acids (n-3 LCPUFA) in plasma or red blood cells (RBC), as also seen in other chronic and acute liver diseases. The differences may be more pronounced in CF transmembrane conductance regulator protein (CFTR)-reg...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0b013e318249438c

    authors: Jørgensen MH,Ott P,Michaelsen KF,Porsgaard T,Jensen F,Lanng S

    更新日期:2012-07-01 00:00:00

  • Duodenal ulcer in sickle cell anemia.

    abstract::A 14-year-old black male with sickle cell anemia developed a duodenal ulcer that masqueraded as sickle cell-related abdominal pain crisis on multiple occasions. Malingering and poor therapeutic compliance aggravated the ulcer in this patient, who ultimately succumbed to a catastrophic bleed. Duodenal ulcer appears to ...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,评审

    doi:10.1097/00005176-199001000-00023

    authors: Rao S,Royal JE,Conrad HA Jr,Harris V,Ahuja J

    更新日期:1990-01-01 00:00:00

  • Applied potential tomography in the measurement of gastric emptying in infants.

    abstract::The aim of this study was to investigate the feasibility of using applied potential tomography (APT), a noninvasive and nonradioactive method, to measure the rate of gastric emptying in preterm babies and infants < 3 months old. APT, a form of electrical impedance tomography, creates tomographic images of tissue resis...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-199501000-00012

    authors: Nour S,Mangnall YF,Dickson JA,Johnson AG,Pearse RG

    更新日期:1995-01-01 00:00:00

  • Defecation disorders in children after surgery for Hirschsprung disease.

    abstract:BACKGROUND AND OBJECTIVE:The majority of children with Hirschsprung disease (HD) after corrective surgery (CS) develop protracted defecation disorders (DDs) such as constipation, fecal incontinence, and/or enterocolitis. The aim of this investigation was to determine the diagnoses, therapies, and long-term clinical out...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0b013e318212eb53

    authors: Chumpitazi BP,Nurko S

    更新日期:2011-07-01 00:00:00

  • Comparison of the cholesteryl ester composition of human milk from preterm and term mothers.

    abstract::Milk was obtained on postpartum days 2-3 (colostrum) and days 7, 21, 42, and 84 from mothers of 18 very premature (VPT, 26-30 weeks gestational age), 28 premature (PT, 31-36 weeks), and 6 term (T, 37-40 weeks) infants. Lipids were extracted in chloroform-methanol and analyzed by thin-layer (TLC) and gas liquid chromat...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-198609000-00020

    authors: Bitman J,Wood DL,Mehta NR,Hamosh P,Hamosh M

    更新日期:1986-09-01 00:00:00

  • Water Load Test in Childhood Functional Abdominal Pain: No Relation to Food Intake and Nutritional Status.

    abstract::This cross-sectional study evaluates the relations between the water load test in childhood functional gastrointestinal disorders with food intake and nutritional status. Patients with functional dyspepsia required a lower maximum water intake to produce fullness (n = 11, median = 380 mL) than patients with irritable ...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000000805

    authors: Ozaki RK,Soares AC,Speridião Pda G,de Morais MB

    更新日期:2015-09-01 00:00:00

  • Effect of pH on fecal recovery of energy derived from volatile fatty acids.

    abstract::We assessed the effect of pH on volatilization of short-chain fatty acids during lyophilization. Acetic, propionic, valeric, and butyric acids were added to a fecal homogenate in amounts sufficient to raise the energy density by 18-27%. Fecal homogenate samples were either acidified (pH 2.8-3.2), alkalinized (pH 7.9-8...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:

    authors: Kien CL,Liechty EA

    更新日期:1987-11-01 00:00:00

  • Evaluation of antibodies to hepatitis C virus in a long-term prospective study of posttransfusion hepatitis among thalassemic children: comparison between first- and second-generation assay.

    abstract::During an 8-year prospective study of post-transfusion hepatitis conducted at the Thalassemic Center of Cagliari (Italy), including 135 newly diagnosed thalassemic children on long-term transfusion maintenance, 83 children (61%) developed non-A, non-B hepatitis (NANBH). Resolution of NANBH was observed in 17 (20%) cas...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-199305000-00020

    authors: Lai ME,De Virgilis S,Argiolu F,Farci P,Mazzoleni AP,Lisci V,Rapicetta M,Clemente MG,Nurchis P,Arnone M

    更新日期:1993-05-01 00:00:00

  • Comparison of two special infant formulas designed for the treatment of protracted diarrhea.

    abstract::The nutritional management of intractable diarrhea and short bowel syndrome remains a challenging problem. The advantage of continuous nasogastric infusion is undisputed, but what to feed remains in question, and no studies, to these authors' knowledge, have yet compared two widely used specially designed protein hydr...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1097/00005176-198801000-00015

    authors: Galeano NF,Lepage G,Leroy C,Belli D,Levy E,Roy CC

    更新日期:1988-01-01 00:00:00

  • Molecular Regulations of Mucosal Maltase Expressions.

    abstract::Two major α-glucosidase (maltase) genes, sucrase-isomaltase (SI) and maltase-glucoamylase (MGAM), respectively, are expressed in the small intestine. In this review, we have summarized whether jejunal expression of these maltase genes is regulated by dietary manipulations, which may affect carbohydrate availability fr...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,评审

    doi:10.1097/MPG.0000000000001980

    authors: Goda T,Honma K

    更新日期:2018-06-01 00:00:00

  • Severe hemorrhage from intestinal hemangiomatosis in Klippel-Trenaunay syndrome: pitfalls in diagnosis and management.

    abstract::A child with Klippel-Trenaunay syndrome (KTS) and severe anemia caused by bleeding from diffuse intestinal hemangiomatosis is presented. Hemangiomas of the bowel should be considered in any child with unexplained anemia and coexisting cutaneous hemangiomas. The diagnostic workup of patients with KTS and symptomatic he...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-198601000-00031

    authors: Schmitt B,Posselt HG,Waag KL,Müller H,Bender SW

    更新日期:1986-01-01 00:00:00