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Wien Klin Wochenschr 2021 Jun 10. Epub 2021 Jun 10.

Research Unit for Neonatal Infectious Diseases and Epidemiology, Medical University of Graz, Auenbruggerplatz 34/2, 8036, Graz, Austria.

Purpose: To evaluate gastrointestinal tract (GIT) perforations in very low birth weight infants and the effects on neurodevelopmental outcome.

Methods: Between 2000 and 2017 all cases with GIT perforation were analyzed regarding causes, associated morbidities and neurodevelopmental outcome and compared with matched (gestational age, birth weight, gender, year of birth) by 1:2 controls.

Results: The incidence of GIT perforation was 2. Read More

JCI Insight 2021 Jun 8;6(11). Epub 2021 Jun 8.

Departments of Medicine and Physiology, University of California, San Francisco, San Francisco, California, USA.

SLC26A6 (also known as putative anion transporter 1 [PAT1]) is a Cl-/HCO3- exchanger expressed at the luminal membrane of enterocytes where it facilitates intestinal Cl- and fluid absorption. Here, high-throughput screening of 50,000 synthetic small molecules in cells expressing PAT1 and a halide-sensing fluorescent protein identified several classes of inhibitors. The most potent compound, the pyrazolo-pyrido-pyrimidinone PAT1inh-B01, fully inhibited PAT1-mediated anion exchange (IC50 ~350 nM), without inhibition of the related intestinal transporter SLC26A3 (also known as DRA). Read More

J Surg Case Rep 2021 May 27;2021(5):rjab192. Epub 2021 May 27.

Pediatric Department, Tishreen University Hospital, Latakia, Syria.

Fetal intestinal volvulus is rare, but it is a serious condition due to its life-threatening complications. The bowel loop becomes twisted; thus, impaired venous return leads to bowel necrosis. Prenatal volvulus is most secondary to intestinal atresia, arterial supply defect or without any underlying cause, with consideration that cystic fibrosis is the cause of the intestinal obstruction, because of meconium ileus. Read More

J Pediatr Surg 2021 Mar 27. Epub 2021 Mar 27.

Second Department of Surgery, Wakayama Medical University, 811-1, Kimiidera, Wakayama-shi, Wakayama 641-8510, Japan. Electronic address:

Background/purpose: therapeutic strategy for meconium-related ileus (MRI) in very-low-birth-weight infants (VLBWs) has not been established. This study aims to clarify the optimum therapeutic strategy for MRI in VLBWs.

Methods: MRI was defined as delayed meconium excretion and microcolon on contrast enema with Gastrografin (diatrizoate acid). Read More

J Cyst Fibros 2021 Apr 18. Epub 2021 Apr 18.

National Institute for Health Research, Southampton Respiratory Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom. Electronic address:

Oman Med J 2021 Mar 31;36(2):e243. Epub 2021 Mar 31.

Pediatric Department, Sohar Hospital, Sohar, Oman.

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator () gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full gene sequencing was performed, which revealed a homozygous unreported C. Read More

Cureus 2021 Mar 6;13(3):e13746. Epub 2021 Mar 6.

Obstetrics and Gynaecology, University Hospital of Ioannina, Ioannina, GRC.

Interstitial obstruction in newborn infants can be caused by several factors such as malrotation, meconium plug syndrome, meconium ileus, Hirschsprung's disease, atresia and stenosis. Neonates who have been diagnosed with an interstitial obstruction are in need of immediate treatment; otherwise, they can deteriorate rapidly. Surgery remains the mainstay of treatment in most cases. Read More

Genes (Basel) 2021 Mar 23;12(3). Epub 2021 Mar 23.

AP-HP, Pediatric Pulmonology and CF Centre, University Hospital Robert Debre, University of Paris, CEDEX 19, 75935 Paris, France.

The Robert Debre Pediatric Cystic Fibrosis (CF) centre, located in the North East of Paris, a multicultural area, is in charge of a cohort of around a hundred and sixty children diagnosed with CF. Between 2000 and 2019, the proportion of children of African descent in this centre increased from 2% to 10%. We report the clinical features of 17 children of African descent diagnosed with CF: 4 (23%) were diagnosed after a meconium ileus, 14 (83%) had exocrine pancreatic insufficiency, and 7 (41%) had early infection before the age of two. Read More

J Pediatr Surg 2021 Feb 24. Epub 2021 Feb 24.

Department of Paediatric Surgery, Bristol Royal Hospital for Children, Bristol, United Kingdom.

Background: Contemporary early outcome data of meconium Ileus (MI) in cystic fibrosis (CF) are lacking on a population level. We describe these and explore factors associated with successful non-operative management.

Methods: A prospective population-cohort study using an established surveillance system (BAPS-CASS) was conducted October 2012-September 2014. Read More

J Pediatr Surg 2021 Feb 24. Epub 2021 Feb 24.

Paediatric Surgery, King's College Hospital, Denmark Hill, London SE5 9RS, UK. Electronic address:

This is a commentary on the manuscript titled "Early Management of Meconium Ileus in Infants with Cystic Fibrosis: A Prospective Population Cohort Study" by Long A-M, et al. Read More

European J Pediatr Surg Rep 2021 Jan 3;9(1):e17-e19. Epub 2021 Mar 3.

Department of Paediatrics and Adolescent Medicine, Division of Neonatology, Medical University of Graz, Graz, Austria.

With the advances of neonatology, the survival rate for "live-born periviable fetuses" weighing < 300 g, a subgroup of extremely low birth weight (BW) infants, has improved over the past 10 years. Meconium-related ileus (MRI) represents an early postnatal hazard, and, if medical evacuation fails, a surgical challenge in such immature babies. We report the interdisciplinary management of surgically treated MRI in a newborn with a BW of 273 g. Read More

Pediatr Int 2021 Feb 2;63(2):229-231. Epub 2021 Feb 2.

Department of Pediatrics, Japanese Red Cross Society, Wakayama Medical Center, Wakayama, Japan.

Pediatr Surg Int 2021 Mar 11;37(3):411-417. Epub 2021 Jan 11.

Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima, 890-8520, Japan.

Purpose: Necrotizing enterocolitis (NEC), focal intestinal perforation (FIP), and meconium-related ileus (MRI) are major diseases that cause gastrointestinal disorders in extremely low-birth-weight infants (ELBWIs). We conducted a review to compare the postoperative outcomes of ELBWIs with these diseases in our neonatal intensive-care unit.

Methods: A retrospective chart review of ELBWIs surgically treated for NEC (n = 31), FIP (n = 35), and MRI (n = 16) in 2001-2018 was undertaken. Read More

N Engl J Med 2021 Jan 2;384(1):e1. Epub 2021 Jan 2.

Yamaguchi University School of Medicine, Yamaguchi, Japan

J Pediatr Surg 2020 Dec 5. Epub 2020 Dec 5.

Department of Paediatric Surgery, Rainbow Children's Hospital Hyderabad 500004, Hyderabad, India.

Background/purpose: Intra hospital transfer of sick newborns is known to cause adverse events with potential morbidity. Interventions at the bedside in a sick neonate can reduce the need for transport and in turn, potential hazards of transfer. Our single institute experience of performing bedside laparotomies in unstable newborns is reported here. Read More

Arq Bras Cir Dig 2020 18;33(3):e1538. Epub 2020 Dec 18.

Pediatric Gastroenterology and Alimentary Tract Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Khouzestan, Iran.

Background: Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop ileostomy.

Aim: To evaluate and compare clinical efficacy of Santulli and loop ileostomy in neonates with meconium ileus.

Methods: In this retrospective study, 58 patients with meconium ileus were evaluated. Read More

Nutr Clin Pract 2020 Dec 10. Epub 2020 Dec 10.

Department of Population, Policy and Practice, University College London Great Ormond Street Institute of Child Health, London, UK.

Background: Children with cystic fibrosis (CF) are at risk of altered body composition (BC). Newborn screening (NBS) may lead to improved BC outcomes. We investigated BC and its relationship with lung function in prepubertal children diagnosed with CF by NBS. Read More

Arq Bras Cir Dig 2020 13;33(1):e1485. Epub 2020 Nov 13.

Pediatric Gastroenterology and Alimentary Tract Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Khouzestan, Iran.

Background: Meconium ileus is a common cause of intestinal obstruction in neonates that different surgical methods have been described for its management such as Santulli and loop ileostomy.

Aim: To evaluate and compare clinical efficacy of Santulli and loop ileostomy in neonates with meconium ileus.

Methods: In this retrospective study, 58 patients with meconium ileus were evaluated. Read More

Clin Radiol 2021 Mar 20;76(3):163-171. Epub 2020 Oct 20.

Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, United States; Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States.

Term neonatal bowel obstruction is common, and absence of treatment is potentially catastrophic. There is a relatively narrow differential diagnosis, with causes categorised as either low or high bowel obstruction. The commonest causes of low bowel obstruction include anorectal malformations (ARM), Hirschsprung's disease, ileal atresia, meconium ileus, meconium plug, and colonic atresia. Read More

PLoS Comput Biol 2020 10 22;16(10):e1008336. Epub 2020 Oct 22.

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

Genome-wide association studies (GWAS) have primarily identified trait-associated loci in the non-coding genome. Colocalization analyses of SNP associations from GWAS with expression quantitative trait loci (eQTL) evidence enable the generation of hypotheses about responsible mechanism, genes and tissues of origin to guide functional characterization. Here, we present a web-based colocalization browsing and testing tool named LocusFocus (https://locusfocus. Read More

Int J Neonatal Screen 2020 Jun 10;6(2):47. Epub 2020 Jun 10.

National Newborn Metabolic Screening programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand;

Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis (CF) screening, key factors include how mild cases of late-presenting CF and CF screen positive, inconclusive diagnosis (CFSPID) are counted, whether those at prior increased risk of CF are excluded from the screened population, and which aspects of the screening pathway are considered. This paper draws on the New Zealand experience of almost forty years of newborn screening for CF. Read More

Medicine (Baltimore) 2020 Oct;99(40):e22321

Department of Pediatrics.

Rationale: Congenital syphilis (CS) can manifest as a variety of clinical presentations according to the severity in symptomatic infants during neonatal period. Preterm neonates with CS may have more clinical evidences of infection and be more severely affected by CS compared with term ones. With increasing survival of markedly premature infants for recent decades, CS may be a challenging problem in those with severe manifestations associated with combined pathophysiologies of CS and prematurity. Read More

Genes (Basel) 2020 09 27;11(10). Epub 2020 Sep 27.

Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia.

The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Read More

Pediatrics 2020 10;146(4)

University of Vermont Children's Hospital, Burlington, Vermont.

Although infants with meconium ileus usually present with apparent symptoms shortly after birth, the diagnosis of meconium ileus and cystic fibrosis (CF) may be delayed, awaiting newborn screening (NBS) results. We present the case of an 11-day-old term girl with delayed passage of meconium at 48 hours who had 2 subsequent small meconium stools over the following week. There was a normal feeding history and no signs of abdominal distension or distress. Read More

Arch Dis Child 2021 03 28;106(3):253-257. Epub 2020 Aug 28.

Department of Medical Biochemistry, Immunology & Toxicology, University Hospital of Wales, Cardiff, UK.

Objective: Wales has an immunoreactive trypsin (IRT)-DNA cystic fibrosis (CF) newborn screening (NBS) programme. Most CF NBS false negative cases are due to an IRT concentration below the screening threshold. The accuracy of IRT results is dependent on the quality of the dried bloodspot (DBS) sample. Read More

Radiologe 2020 Sep;60(9):781-790

Sektion für Pädiatrische Radiologie, Klinik für Diagnostische und Interventionelle Radiologie, Universitätsklinikum Heidelberg, Heidelberg, Deutschland.

Cystic fibrosis (CF) is the most common fatal autosomal recessive disease in the Caucasian population. A mutation in the cystic fibrosis transmembrane regulator protein (CFTR) gene leads to the production of abnormally viscous mucus and secretions in the lungs of these patients. A similar pathology also occurs in other organs. Read More

Pediatr Pulmonol 2020 11 31;55(11):3005-3011. Epub 2020 Jul 31.

Department of Neonatology, Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.

Objectives: To investigate and summarize the clinical and genetic characteristics of Chinese cystic fibrosis (CF) patients to improve clinicians' understanding and decrease the rates of misdiagnosis and missed diagnoses in China.

Methods: The EMBASE, Cochrane Library, PubMed and SinoMed databases were searched for studies involving Chinese CF patients from January 1975 to August 2019.

Results: In total, 113 Chinese patients, including 53 males and 60 females, were reported. Read More

Pediatr Pulmonol 2020 10 24;55(10):2496-2497. Epub 2020 Jul 24.

Department of Pediatric Hematology Oncology, College of Medicine, University of Saskatchewan, Saskatoon, Canada.

Pediatr Surg Int 2020 Sep 23;36(9):1093-1101. 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

Acta Paediatr 2020 12 16;109(12):2738-2739. Epub 2020 Sep 16.

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