830 results match your criteria Meconium Ileus


Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates.

Pediatr Surg Int 2020 Jun 23. Epub 2020 Jun 23.

Department of Radiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 3401 Civic Center Blvd, 3NW13, Philadelphia, PA, 19104, USA.

Purpose: We aim to evaluate the diagnostic performance and relationship between clinical characteristics, imaging findings, and final diagnosis for the neonatal contrast enema (CE).

Methods: Retrospective 10-year review of all neonatal CEs including imaging findings, clinical information, indication, and final diagnosis from discharge summaries, surgical reports, and pathology (reference standard). Two blinded pediatric radiologists reinterpreted 366 CEs for obstruction, microcolon, rectosigmoid index (RSI), serrations, meconium, ileal cut-off, transition zone, diagnosis, and level of confidence. Read More

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http://dx.doi.org/10.1007/s00383-020-04701-4DOI Listing

Long term clinical outcome of cystic fibrosis pediatric patients presenting with meconium ileus.

Acta Paediatr 2020 Jun 8. Epub 2020 Jun 8.

Pediatric Allergy and Respiratory Unit, 3rd Department of Pediatrics, Attikon" University Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.

Meconium ileus (MI) roughly affects 15% of cystic fibrosis (CF) patients. Although the mortality from MI has been eliminated there remain questions regarding its consequences in the prognosis of CF. Τhe aim of this study was to investigate whether CF patients presenting with MI at birth differ in respiratory function and z-score of body mass index (z-BMI), from CF patients diagnosed by other clinical symptoms. Read More

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http://dx.doi.org/10.1111/apa.15405DOI Listing

[Abdominal imaging in cystic fibrosis].

Radiologe 2020 Jun 3. Epub 2020 Jun 3.

Arbeitsbereich Kinderradiologie, Institut für Diagnostische und Interventionelle Radiologie, Medizinische Hochschule Hannover, Hannover, Deutschland.

Clinical Issue: Abdominal complications are often the first indications for cystic fibrosis (CF), a multiorgan disease. A broad range of abdominal manifestations are associated with the disease, including gastrointestinal abnormalities (such as meconium ileus in newborns and distal intestinal obstruction syndrome in older children) and hepatobiliary alterations (e.g. Read More

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http://dx.doi.org/10.1007/s00117-020-00703-4DOI Listing

Neonatal screening programme for CF: Results from the Irish Comparative Outcomes Study (ICOS).

Pediatr Pulmonol 2020 May 29. Epub 2020 May 29.

School of Public Health, Physiotherapy and Sports Science, University College Dublin, Dublin, Ireland.

The introduction of NBS in Ireland in July 2011, provided a unique opportunity to investigate clinical outcomes using a comparative historical cohort study. Clinical cohort: children clinically diagnosed with CF born 1 July 2008 to 30 June 2011, and NBS cohort: children diagnosed with CF through NBS born 1 July 2011 to 30 June 2016. Clinical data were collected from the CF Registry of Ireland, medical charts, and data on weight/height before diagnosis from public health nurses and family doctors. Read More

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http://dx.doi.org/10.1002/ppul.24876DOI Listing

Pathophysiology of Hyperechogenic Bowel in Congenitally Human Cytomegalovirus Infected Fetuses.

Microorganisms 2020 May 22;8(5). Epub 2020 May 22.

Department of Specialized, Experimental, and Diagnostic Medicine, Operative Unit of Clinical Microbiology, St. Orsola Polyclinic, University of Bologna, Via Massarenti 9, 40138 Bologna, Italy.

Hyperechogenic bowel (HB) is a nonspecific ultrasound finding that can be associated with human cytomegalovirus (CMV) congenital infection. In this study, we investigated HB pathophysiology in CMV-infected fetuses. We examined small and large intestine as well as pancreas in 8 fetuses at 22 weeks of gestation with congenital CMV infection. Read More

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http://dx.doi.org/10.3390/microorganisms8050779DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285288PMC

Cystic fibrosis-associated liver disease in children.

Minerva Pediatr 2020 May 15. Epub 2020 May 15.

Division of Pediatric Gastroenterology, Nutrition, and Hepatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA -

Introduction: As improvements in nutritional and pulmonary care increase the life expectancy of cystic fibrosis (CF) patients, CF-associated liver disease (CFLD) is emerging as a cause of mortality. CFLD is the third leading cause of death in CF patients.

Evidence Acquisition: We performed a search on PubMed and Google Scholar for published articles on CFLD. Read More

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http://dx.doi.org/10.23736/S0026-4946.20.05895-8DOI Listing
May 2020
0.723 Impact Factor

iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation.

Mol Ther Methods Clin Dev 2020 Jun 18;17:858-870. Epub 2020 Apr 18.

Consejo Superior de Investigaciones Científicas (CSIC/IMEDEA), Miguel Marqués 21, 07190 Esporles, Spain.

Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium ileus), later extending to other organs, generally affecting the respiratory tract. Read More

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http://dx.doi.org/10.1016/j.omtm.2020.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195499PMC

Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease-related mutations.

IUBMB Life 2020 Jun 15;72(6):1145-1159. Epub 2020 Apr 15.

Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bengaluru, India.

Guanylyl cyclase C (GC-C) is the receptor for the heat-stable enterotoxin, which causes diarrhea, and the endogenous ligands, guanylin and uroguanylin. GC-C is predominantly expressed in the intestinal epithelium and regulates fluid and ion secretion in the gut. The receptor has a complex domain organization, and in the absence of structural information, mutational analysis provides clues to mechanisms of regulation of this protein. Read More

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http://dx.doi.org/10.1002/iub.2283DOI Listing

Variant classifications, databases and genotype-phenotype correlations.

Authors:
C Raynal H Corvol

Arch Pediatr 2020 Feb;27 Suppl 1:eS13-eS18

Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, CRSA, Paris, France; AP-HP, Hôpital Trousseau, Service de Pneumologie Pédiatrique, Paris, France.

Because CFTR gene studies now represent one of the most frequent genetic analyses routinely performed worldwide, the number of rare CFTR variants identified in various clinical situations, regularly increases. To provide appropriate diagnosis and prognosis to CF patients as well as appropriate genetic counseling to families, the clinical impact and the phenotypic spectrum of variants identified by diagnostic techniques need to be characterized. Three complementary locus specific databases, called CFTR1, CFTR2 and CFTR-France were developed to address these issues. Read More

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http://dx.doi.org/10.1016/S0929-693X(20)30045-2DOI Listing
February 2020

Risk factors of meconium-related ileus in very low birth weight infants: patients-control study.

Sci Rep 2020 Mar 13;10(1):4674. Epub 2020 Mar 13.

Department of Pediatric Surgery, Seoul National University College of Medicine, Seoul, South Korea.

Very low birth weight (VLBW) neonates experience various problems, including meconium-related ileus (MRI). This study investigated the risk factors of MRI and surgical MRI in VLBW infants. VLBW neonates admitted to the Neonatal Intensive Care Unit of Seoul National University Children's Hospital from October 2002 to September 2016 were included in the study. Read More

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http://dx.doi.org/10.1038/s41598-020-60016-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7070079PMC

Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis.

Cell Mol Life Sci 2020 Mar 12. Epub 2020 Mar 12.

Sorbonne Université, INSERM UMR S 938, Centre de Recherche Saint‑Antoine (CRSA), Paris, France.

The solute carrier family 6 member 14 (SLC6A14) protein imports and concentrates all neutral amino acids as well as the two cationic acids lysine and arginine into the cytoplasm of different cell types. Primarily described as involved in several cancer and colonic diseases physiopathological mechanisms, the SLC6A14 gene has been more recently identified as a genetic modifier of cystic fibrosis (CF) disease severity. It was indeed shown to have a pleiotropic effect, modulating meconium ileus occurrence, lung disease severity, and precocity of P. Read More

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http://dx.doi.org/10.1007/s00018-020-03487-xDOI Listing

Meconium peritonitis resulting from different etiologies in siblings: a case report.

BMC Pediatr 2020 Mar 5;20(1):106. Epub 2020 Mar 5.

Department of Surgery, Pusan National University Hospital, Busan, South Korea.

Background: Meconium peritonitis is defined as aseptic chemical inflammation caused by intrauterine bowel perforation. The underlying causes of bowel perforation include intestinal atresia, midgut volvulus, intussusception, congenital bands, and meconium ileus.

Case Presentation: Siblings with prenatally diagnosed meconium peritonitis of different etiologies were found. Read More

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http://dx.doi.org/10.1186/s12887-020-2016-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057448PMC

Hydrogen Peroxide Enema-induced Proctitis in a Young Female: A Case Report.

Cureus 2019 Dec 26;11(12):e6468. Epub 2019 Dec 26.

Gastroenterology, AdventHealth, Orlando, USA.

Hydrogen peroxide is a disinfectant commonly used for cleansing superficial wounds due to its oxidizing capacity. In the past, it has also been used for the management of meconium ileus in children as the oxidizing action of hydrogen peroxide potentiates peristalsis that relieves ileus or fecal impaction. The potential dangers were unknown till Pumphrey, in 1951, described the harmful effects of its use as an enema. Read More

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http://dx.doi.org/10.7759/cureus.6468DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984182PMC
December 2019

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.

Cold Spring Harb Mol Case Stud 2020 Feb 3;6(1). Epub 2020 Feb 3.

HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.

Variations in disease onset and/or severity have often been observed in siblings with cystic fibrosis (CF), despite the same genotype and environment. We postulated that genomic variation (modifier and/or pharmacogenomic variants) might explain these clinical discordances. From a cohort of patients included in the Wisconsin randomized clinical trial (RCT) of newborn screening (NBS) for CF, we identified two brothers who showed discordant lung disease courses as children, with one milder and the other more severe than average, and a third, eldest brother, who also has severe lung disease. Read More

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http://dx.doi.org/10.1101/mcs.a004531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996517PMC
February 2020

Cystic fibrosis in Turkey: First data from the national registry.

Pediatr Pulmonol 2020 02 11;55(2):541-548. Epub 2019 Nov 11.

Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Background: Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Read More

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http://dx.doi.org/10.1002/ppul.24561DOI Listing
February 2020

Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.

Pediatr Pulmonol 2020 02 4;55(2):549-555. Epub 2019 Nov 4.

Department of Clinical Genetics, Molecular Genetics Laboratory, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Background: In Denmark, newborn screening (NBS) for cystic fibrosis (CF) was introduced on 1 May 2016. The implementation and results from the first 2 years of the national newborn CF screening program are presented.

Methods: The screening included immunoreactive trypsinogen (IRT), followed by evaluation for the F508del mutation when a value at or above the 50 ng/mL cutoff was present. Read More

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http://dx.doi.org/10.1002/ppul.24564DOI Listing
February 2020
1 Read

Differences in clinical outcomes of paediatric cystic fibrosis patients with and without meconium ileus.

J Cyst Fibros 2019 11 28;18(6):857-862. Epub 2019 Oct 28.

Department of Gastroenterology, Sydney Children's Hospital, High Street, Randwick NSW 2031, Australia; Discipline of Paediatrics, School of Women's and Children's Health, University of New South Wales, Sydney NSW 2052, Australia; Molecular and Integrative Cystic Fibrosis (miCF) Research Centre, Sydney Children's Hospital, High Street, Randwick NSW 2031, Australia. Electronic address:

Background: Meconium ileus (MI) affects up to 20% of newborns with cystic fibrosis (CF). We compared clinical outcomes between Australian paediatric CF patients with and without meconium ileus (non-MI).

Methods: This was a retrospective case-control study of MI and non-MI patients in New South Wales, Australia, from 1988 to 2010. Read More

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http://dx.doi.org/10.1016/j.jcf.2019.09.008DOI Listing
November 2019

Is meconium ileus associated with worse outcomes in cystic fibrosis?

J Cyst Fibros 2019 11 25;18(6):746. Epub 2019 Oct 25.

Wilhelmina Childrens Hospital and University Medical Centre Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2019.10.003DOI Listing
November 2019
1 Read

Distal intestinal obstruction syndrome: a diagnostic and therapeutic challenge in cystic fibrosis.

J Pediatr (Rio J) 2019 Oct 22. Epub 2019 Oct 22.

Universidade Estadual de Campinas (UNICAMP), Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brazil.

Objective: To evaluate the demographics, genotype, and clinical presentation of pediatric patients presenting with distal intestinal obstruction syndrome (DIOS), and factors associated with DIOS recurrence.

Methods: Case series of ten patients (median age 13.2 years), followed-up in a reference center, retrospectively assessed. Read More

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http://dx.doi.org/10.1016/j.jped.2019.08.009DOI Listing
October 2019
1 Read

-acetylcysteine for Management of Distal Intestinal Obstruction Syndrome.

J Pediatr Pharmacol Ther 2019 Sep-Oct;24(5):390-397

With the improving life expectancy of cystic fibrosis patients, new manifestations of the disease are emerging. Distal intestinal obstruction syndrome is one of the increasingly noted complications. Traditionally this syndrome was treated surgically. Read More

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http://dx.doi.org/10.5863/1551-6776-24.5.390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6782121PMC
October 2019
1 Read

Value of prenatal diagnosis of meconium peritoneum: Comparison of outcomes of prenatal and postnatal diagnosis.

Medicine (Baltimore) 2019 Sep;98(39):e17079

Department of Neonatology, MacKay Children's Hospital, Taipei.

Advancements in diagnostic modalities have improved the diagnosis of meconium peritonitis (MP) both in utero and ex utero. This study aimed to determine the efficacy of prompt prenatal and postnatal diagnoses of MP on the postnatal outcomes of these patients.We conducted a retrospective chart review of neonates with MP admitted to the Mackay Memorial Hospital Systems from 2005 to 2016. Read More

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http://dx.doi.org/10.1097/MD.0000000000017079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775423PMC
September 2019
1 Read

Waardenburg Syndrome Type IV De Novo Variant Causing Chronic Intestinal Pseudo-Obstruction.

Pediatr Gastroenterol Hepatol Nutr 2019 Sep 11;22(5):487-492. Epub 2019 Sep 11.

Division of Pediatric Surgery, Department of Surgery, University of Miami Miller School of Medicine, Miami, FL, United States.

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the gene, which belongs to the (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a frameshift mutation variant defined as c. Read More

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http://dx.doi.org/10.5223/pghn.2019.22.5.487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751108PMC
September 2019
5 Reads

[Intrauterine Growth Restriction: Transsectoral, Interdisciplinary and Multiprofessional Care for Pregnant Women and Newborns in a Feto-neonatal Pathway: A Project of the Innovationsfonds].

Z Geburtshilfe Neonatol 2020 Feb 11;224(1):15-21. Epub 2019 Sep 11.

Zentrum für Feto-Neonatale Gesundheit an der TU Dresden, TU Dresden, Dresden.

Intrauterine growth restriction (IUGR) is present in fetuses that do not achieve their full in-utero growth potential. IUGR needs to be discriminated from small for gestational age (SGA) because IUGR newborns in particular experience long-term side effects from their small growth. IUGR fetuses have a significantly increased risk of prematurity and a distinct risk profile compared to adequate-for-gestational-age preterm newborns. Read More

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http://dx.doi.org/10.1055/a-0998-4532DOI Listing
February 2020
2 Reads

Comparison of Acute Abdominal Surgical Outcomes of Extremely-Low-Birth-Weight Neonates according to Differential Diagnosis.

J Korean Med Sci 2019 Sep 9;34(35):e222. Epub 2019 Sep 9.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

Background: Improvements in perinatal intensive care have improved survival of extremely-low-birth-weight (ELBW) neonates, although the risk of acute abdomen has increased. The differential diagnosis resulting in abdominal surgery can be categorized into necrotizing enterocolitis (NEC), spontaneous intestinal perforation (SIP), meconium-related ileus (MRI), and meconium non-related ileus (MNRI). The purpose of this study was to review our experience with abdominal surgery for ELBW neonates, and to evaluate characteristics and prognosis according to the differential diagnosis. Read More

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http://dx.doi.org/10.3346/jkms.2019.34.e222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732259PMC
September 2019
1 Read

Night Blindness in Cystic Fibrosis: The Key Role of Vitamin A in the Digestive System.

Nutrients 2019 Aug 13;11(8). Epub 2019 Aug 13.

Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, 20121 Milan, Italy.

Vitamin A is a fundamental micronutrient that regulates various cellular patterns. Vitamin A deficiency (VAT) is a worldwide problem and the primary cause of nocturnal blindness especially in low income countries. Cystic fibrosis (CF) is a known risk factor of VAD because of liposoluble vitamin malabsorption due to pancreatic insufficiency. Read More

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http://dx.doi.org/10.3390/nu11081876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723039PMC
August 2019
3 Reads

Homozygous Deletion of the Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis.

J Pediatr Genet 2019 Sep 13;8(3):147-152. Epub 2019 Feb 13.

Department of Genetics and Inborn Errors of Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú.

We report the first case in Peru of cystic fibrosis caused by a homozygous deletion of the cystic fibrosis transmembrane conductance regulator ( ) gene. A 10-month-old child who presented with meconium ileus and pancreatic insufficiency was tested for cystic fibrosis. Both parents of the child are of Peruvian background, are nonconsanguineous, and have no personal or family history of the disease. Read More

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http://dx.doi.org/10.1055/s-0039-1678682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688885PMC
September 2019
4 Reads

Distal intestinal obstruction syndrome: an important differential diagnosis for abdominal pain in patients with cystic fibrosis.

ANZ J Surg 2020 05 30;90(5):681-686. Epub 2019 Jul 30.

Department of Surgery, Westmead Hospital, Sydney, New South Wales, Australia.

As life expectancy for those with cystic fibrosis (CF) now exceeds 40 years of age, adult hospitals away from specialized CF services are being exposed more frequently to people with acute complications of CF. Well-known manifestations of CF include pulmonary disease and pancreatic insufficiency with malabsorption. However, a less well-known entity is distal intestinal obstruction syndrome (DIOS), which is an important cause of obstructive symptoms in people with CF that must be differentiated from other causes of bowel obstruction. Read More

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http://dx.doi.org/10.1111/ans.15357DOI Listing
May 2020
2 Reads

Risk factors for adverse outcome in infancy in meconium ileus cystic fibrosis infants: A multicentre Italian study.

J Cyst Fibros 2019 11 25;18(6):863-868. Epub 2019 Jul 25.

Department of Clinical Sciences and Community Health, Unit of Medical Statistics, Biometry and Bioinformatics "Giulio A. Maccacaro", Faculty of Medicine and Surgery, University of Milan, Milan, Italy.

Background: Meconium ileus (MI) is a risk factor for poor outcomes in cystic fibrosis (CF) patients. The aim of this study was to identify the risk factors for poor 12-month clinical outcomes in MI-CF newborns.

Methods: This retrospective, multicentre, observational study of MI-CF infants born 2009-2015 recorded their pre- and neonatal histories, intestinal occlusion treatments, post-surgical history, nutrition, CF diagnosis, and compared the patients with 12-month faltering growth or chronic Pseudomonas aeruginosa respiratory infection (cases) with the others (controls). Read More

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http://dx.doi.org/10.1016/j.jcf.2019.07.003DOI Listing
November 2019
6 Reads

The outcome of Bishop-Koop procedure compared to divided stoma in neonates with meconium ileus, congenital intestinal atresia and necrotizing enterocolitis.

Medicine (Baltimore) 2019 Jul;98(27):e16304

Department of Pediatric Surgery, University Hospital of Freiburg, Freiburg, Germany.

To determine the potential value and suitability of Bishop-Koop procedure (BK) compared to divided stoma (DS) in neonates with meconium ileus (MI), congenital intestinal atresia (CIA), and necrotizing enterocolitis (NEC).A retrospective data collection from 2000 to 2019 on neonates undergoing BK and DS formation and closure for MI, CIA, and NEC was conducted. Ostomy related complications following both procedures were analyzed. Read More

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http://dx.doi.org/10.1097/MD.0000000000016304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635230PMC
July 2019
2 Reads

Gastrointestinal, Pancreatic, and Hepatic Manifestations of Cystic Fibrosis in the Newborn.

Neoreviews 2019 01;20(1):e12-e24

Emory University, Atlanta, GA.

Gastrointestinal, pancreatic, and hepatic signs and symptoms represent the most common presentation of early disease among patients with cystic fibrosis and may be the initial indication of disease. Regardless of whether cystic fibrosis is diagnosed early by newborn screening or later by clinical course, the impact of gastrointestinal, pancreatic, and hepatic manifestations on early life is nearly ubiquitous. Conditions strongly linked with cystic fibrosis, such as meconium ileus and pancreatic insufficiency, must be recognized and treated early to optimize both short- and long-term care. Read More

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http://dx.doi.org/10.1542/neo.20-1-e12DOI Listing
January 2019
9 Reads

Management Strategy of Meconium Ileus-Outcome Analysis.

J Indian Assoc Pediatr Surg 2019 Apr-Jun;24(2):120-123

Department of Pediatric Surgery, King George's Medical University, Lucknow, Uttar Pradesh, India.

Background: Meconium ileus (MI) is defined as an intestinal obstruction caused by the impaction of inspissated meconium in the terminal ileum. In this study, we have evaluated the nonoperative management of patients of simple MI without fluoroscopic support -an important requisite of the Noblett's criteria. Besides this, surgical management in cases of failed conservative management and complicated MI was also assessed. Read More

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http://dx.doi.org/10.4103/jiaps.JIAPS_41_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417045PMC
May 2019
5 Reads

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

J Pediatr 2019 08 10;211:207-210. Epub 2019 May 10.

Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address:

Meconium ileus is caused by cystic fibrosis; however, mutations in the GUCY2C gene also cause this disease. We report non-cystic fibrosis meconium ileus in an infant of non-Middle Eastern origin with compound heterozygous mutations in GUCY2C. Read More

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http://dx.doi.org/10.1016/j.jpeds.2019.04.022DOI Listing
August 2019
5 Reads

Meconium Ileus in Two Irish Newborns: The Presenting Feature of Cystic Fibrosis

Ir Med J 2019 03 14;112(3):901. Epub 2019 Mar 14.

Department of Neonatology, University Hospital, Galway

Introduction Meconium Ileus (MI) is the presenting feature of CF in approximately 10-15% of cases. This report outlines the clinical presentation, imaging and management of two neonates with MI and subsequent diagnosis of Cystic Fibrosis (CF). Methods A retrospective chart review was performed to evaluate the clinical course of two neonates with MI. Read More

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March 2019
4 Reads

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.

PLoS Genet 2019 02 26;15(2):e1008007. Epub 2019 Feb 26.

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.

Cystic Fibrosis (CF) exhibits morbidity in several organs, including progressive lung disease in all patients and intestinal obstruction at birth (meconium ileus) in ~15%. Individuals with the same causal CFTR mutations show variable disease presentation which is partly attributed to modifier genes. With >6,500 participants from the International CF Gene Modifier Consortium, genome-wide association investigation identified a new modifier locus for meconium ileus encompassing ATP12A on chromosome 13 (min p = 3. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407791PMC
February 2019
11 Reads

Bowel Imaging in Children: Part 1.

Indian J Pediatr 2019 09 14;86(9):805-816. Epub 2019 Feb 14.

Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, 110029, India.

The bowel is a challenging abdominal organ to image. The main reason is the variable location, convoluted morphology and motility. A variety of bowel disorders such as congenital, developmental, inflammatory, infectious and neoplastic lesions can affect children and most of them are either unique to this age group or have a distinct clinico-radiological appearance compared to adults. Read More

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http://dx.doi.org/10.1007/s12098-019-02877-9DOI Listing
September 2019
3 Reads

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

J Bras Pneumol 2018 Nov-Dec;44(6):498-504

. Centro Infantil, Instituto de Pesquisas Biomédicas, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.

Objectives: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics.

Method: Descriptive cross-sectional study including patients with cystic fibrosis who had two alleles identified with CFTR mutation. Clinical, anthropometrical, laboratorial and pulmonary function (spirometry) data were collected from patients' records in charts and described with the results of the sample genotyping. Read More

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/s1806-37562017000000418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459751PMC
March 2019
10 Reads

Complications of newborn enterostomies.

World J Clin Cases 2018 Dec;6(16):1101-1110

Department of Pediatric Surgery, University Hospital Frankfurt, Goethe-University Frankfurt am Main, Frankfurt 60590, Germany.

Aim: To evaluate the occurrence and severity of enterostomy complications in newborns suffering from different intestinal disorders.

Methods: A 10-year retrospective cohort study (2008-2017) investigated newborns that underwent enterostomy formation and reversal for different intestinal disorders. Only infants less than 28 d old at the time of enterostomy creation were included in the study (corrected age was applied in the cases of preterm neonates). Read More

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http://dx.doi.org/10.12998/wjcc.v6.i16.1101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306644PMC
December 2018
7 Reads

Cystic fibrosis in Tunisian children: a review of 32 children.

Afr Health Sci 2018 Sep;18(3):664-670

Bechir Hamza Children's Hospital of Tunis, Pediatrics Department B.

Background: Cystic fibrosis is rare in Tunisia. Its diagnosis requires experienced specialists. Its prognosis is poor in developing countries. Read More

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http://dx.doi.org/10.4314/ahs.v18i3.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307014PMC
September 2018
8 Reads

The feasibility of routine use of distal stoma refeeding method in newborns with enterostomy.

J Matern Fetal Neonatal Med 2018 12 25:1-101. Epub 2018 Dec 25.

a Department of Pediatric Surgery , Medical University of Innsbruck , Innsbruck , Austria.

Objective: Temporary enterostomies are life-saving in neonatal surgery, however causing loss of fluid electrolyte, delays in distal bowel adaptation and thus delayed growth of newborns. In this study, we aimed to present the method and clinical results of distal stoma refeeding in premature and mature neonates.

Methods: Between January 2012 and December 2017, records of newborn patients who underwent enterostomy and distal stoma refeeding were retrospectively analysed. Read More

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http://dx.doi.org/10.1080/14767058.2018.1563593DOI Listing
December 2018
16 Reads

Clinical expression of cystic fibrosis in a large cohort of Italian siblings.

BMC Pulm Med 2018 Dec 22;18(1):196. Epub 2018 Dec 22.

Dipartimento di Bioscienze e Territorio, Università del Molise, Isernia, Italy.

Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the same CFTR genotype and between siblings with CF.

Methods: We investigated all clinical aspects in a cohort of 101 pairs of siblings with CF (including 6 triplets) followed since diagnosis.

Results: Severe lung disease had a 22. Read More

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https://bmcpulmmed.biomedcentral.com/articles/10.1186/s12890
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http://dx.doi.org/10.1186/s12890-018-0766-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303904PMC
December 2018
36 Reads

Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.

J Proteome Res 2019 03 7;18(3):841-854. Epub 2019 Jan 7.

Department of Chemistry and Chemical Biology , McMaster University , Hamilton L8S 4M1 , Canada.

Cystic fibrosis (CF) is a complex multiorgan disorder that is among the most common fatal genetic diseases benefiting from therapeutic interventions early in life. Newborn screening (NBS) for presymptomatic detection of CF currently relies on a two-stage immunoreactive trypsinogen (IRT) and cystic fibrosis transmembrane conductance regulator (CFTR) mutation panel algorithm that is sensitive but not specific for identifying affected neonates with a low positive predictive value. For the first time, we report the discovery of a panel of CF-specific metabolites from a single 3. Read More

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http://dx.doi.org/10.1021/acs.jproteome.8b00351DOI Listing
March 2019
11 Reads

Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis.

Gene 2019 Jan 3;683:12-17. Epub 2018 Oct 3.

The Adult Cystic Fibrosis Centre, The Prince Charles Hospital, 4032, Queensland, Australia; School of Medicine, University of Queensland, 4029, Queensland, Australia; Lung Infection and Inflammation Laboratory, QIMR Berghofer Medical Research Institute, 4029, Queensland, Australia.

Background And Objective: Genetic modifiers contribute to variable disease phenotype in cystic fibrosis (CF). We explored the association between mutations in the hemochromatosis (HFE) gene and disease severity in adults with CF.

Methods: HFE genotyping was performed in 163 adults with CF attending a single centre. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03781119183102
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http://dx.doi.org/10.1016/j.gene.2018.10.002DOI Listing
January 2019
25 Reads

Consuming Genistein Improves Survival Rates in the Absence of Laxative in ΔF508-CF Female Mice.

Nutrients 2018 Oct 3;10(10). Epub 2018 Oct 3.

Department of Physiology, AZCOM, Midwestern University, 19555 N. 59th Avenue, Glendale, AZ 85308, USA.

Genistein is a naturally occurring isoflavone found in soy. Genistein has been shown to increase the open probability of the most common cystic fibrosis (CF) disease-associated mutation, ∆F508-CFTR. Mice homozygous for the ∆F508 mutation are characterized with severe intestinal disease and require constant laxative treatment for survival. Read More

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http://dx.doi.org/10.3390/nu10101418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213472PMC
October 2018
8 Reads

A safe and efficacious preventive strategy in the high-risk surgical neonate: cycled total parenteral nutrition.

Pediatr Surg Int 2018 Nov 28;34(11):1177-1181. Epub 2018 Sep 28.

Department of Surgery, Children's Mercy Hospital, 2401 Gillham Road, Kansas City, MO, 64108, USA.

Introduction: Hepatic dysfunction in patients reliant on total parenteral nutrition (TPN) may benefit from cycled TPN. A concern for neonatal hypoglycemia has limited the use of cycled TPN in neonates less than 1 week of age. We sought to determine both the safety and efficacy of cycled TPN in surgical neonates less than 1 week of age. Read More

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http://dx.doi.org/10.1007/s00383-018-4351-0DOI Listing
November 2018
8 Reads

Transumbilical minilaparotomy in low-birthweight newborns for complicated conditions.

Pediatr Neonatol 2019 06 2;60(3):318-323. Epub 2018 Aug 2.

Division of Pediatric Surgery, Department of Surgery, Shuang Ho Hospital, New Taipei City, Taiwan; School of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address:

Background: The purpose of this study is to examine the outcome of transumbilical minilaparotomy for infants and compare the results between normal birthweight (NBW) and low birthweight (LBW).

Methods: Between July 2010 and March 2017, infants who underwent abdominal surgery through transumbilical minilaparotomy were enrolled. Medical records were retrospectively reviewed. Read More

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http://dx.doi.org/10.1016/j.pedneo.2018.07.014DOI Listing
June 2019
10 Reads

Cystic Fibrosis Liver Disease: Outcomes and Risk Factors in a Large Cohort of French Patients.

Hepatology 2019 04 28;69(4):1648-1656. Epub 2018 Dec 28.

Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, CRSA, Paris, France.

Cystic fibrosis (CF)-related liver disease (CFLD) is a common symptom in patients with CF. However, its prevalence, risk factors, and evolution are unclear. We analyzed a large database of patients with CF to investigate the incidence of CFLD, its related risk factors, and the use and effect of ursodeoxycholic acid (UDCA) treatment. Read More

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http://dx.doi.org/10.1002/hep.30148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519059PMC
April 2019
10 Reads

SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion.

Elife 2018 07 13;7. Epub 2018 Jul 13.

Department of Physiology, University of Toronto, Toronto, Canada.

The severity of intestinal disease associated with Cystic Fibrosis (CF) is variable in the patient population and this variability is partially conferred by the influence of modifier genes. Genome-wide association studies have identified an electrogenic amino acid transporter, as a genetic modifier of CF-associated meconium ileus. The purpose of the current work was to determine the biological role of by disrupting its expression in CF mice bearing the major mutation, F508del. Read More

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http://dx.doi.org/10.7554/eLife.37963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054531PMC
July 2018
13 Reads

Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.

Arch Bronconeumol 2018 11 6;54(11):551-558. Epub 2018 Jul 6.

Unidad de Fibrosis Quística, Hospital Universitario Virgen del Rocío, Sevilla, España; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, España.

Introduction: Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that is positive or inconclusive, genetic testing is requested.

Objective: To analyze CFNS, based on results from the first 4. Read More

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http://dx.doi.org/10.1016/j.arbres.2018.03.013DOI Listing
November 2018
43 Reads

Predictors for surgical intervention and surgical outcomes in neonates with cystic fibrosis.

J Pediatr Surg 2018 Nov 23;53(11):2150-2154. Epub 2018 May 23.

IWK Health Centre, Dalhousie University, Division of Pediatric General and Thoracic Surgery, Department of Surgery, Halifax, NS, Canada. Electronic address:

Background/purpose: To identify prenatal and perinatal predictors of surgery and describe surgical findings/outcomes of neonates with Meconium Ileus (MI) secondary to Cystic Fibrosis (CF).

Methods: Potential risk factors (prenatal bowel echogenicity, CF genotype, birthweight, prematurity and sex) for MI and surgery were examined in a retrospective cohort of neonates with CF presenting to a tertiary center between 1997 and 2015. Following univariable analysis, predictors of MI and surgery were determined using multivariable logistic regression. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2018.05.016DOI Listing
November 2018
22 Reads