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J Indian Assoc Pediatr Surg 2022 May-Jun;27(3):287-292. Epub 2022 May 12.

Department of Neonatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

Background: Gastrointestinal (GI) malformations have varied short-term and long-term outcomes reported across various neonatal units in India.

Methods: This descriptive study was done to study the clinical profile, outcomes and predictors of mortality in neonates operated for congenital GI malformations in a tertiary neonatal care unit in South India between years 2011 and 2020. Details were collected by retrospective review of the case sheets. Read More

Mol Pharmacol 2022 Jun 9. Epub 2022 Jun 9.

Pediatrics, UCSF, United States

Loss of prosecretory Cl channel CFTR activity is considered as the key cause of gastrointestinal disorders in cystic fibrosis including constipation and meconium ileus. Clc-2 is proposed as an alternative Cl channel in intestinal epithelia that can compensate for CFTR loss-of-function. Lubiprostone is an FDA-approved drug with Clc-2 activation as its presumed mechanism of action. Read More

Cureus 2022 Apr 12;14(4):e24057. Epub 2022 Apr 12.

Pediatric Surgery, The Children's Hospital and University of Child Health Sciences, Lahore, PAK.

Background and objective Intestinal perforations and necrotizing enterocolitis (NEC) requiring the formation of temporary intestinal stoma are prevalent conditions worldwide. This prospective study aimed to address the following research question: does sutureless enterostomy lead to fewer complications compared to conventional enterostomy in critically sick surgical neonates who need a stoma? Methods We conducted a randomized control trial (TCTR20211011004) from October 2020 to October 2021. A total of 120 patients were randomized to the following two study groups: Group A: conventional sutured enterostomy; Group B: sutureless enterostomy, with 60 patients in each group. Read More

Int J Pediatr Adolesc Med 2022 Mar 22;9(1):32-35. Epub 2021 Mar 22.

College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.

Introduction: Meconium ileus (MI) is one of the most common causes of intestinal obstruction in newborns. It is the earliest clinical manifestation of cystic fibrosis (CF). MI is suspected if a baby fails to pass meconium shortly after birth and develops symptoms of bowel obstruction, such as distention of the abdomen or vomiting. Read More

BMC Pediatr 2022 05 3;22(1):247. Epub 2022 May 3.

University Hospital Leuven, Herestraat 49, 3001, Leuven, Belgium.

Background: This case report describes a child born with both cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (A1ATD). Both are autosomal recessive inherited diseases, mainly affecting the lungs and the liver. The combination of both diseases together is rare and may lead to a fulminant disease with limited life span. Read More

Cureus 2022 Mar 24;14(3):e23458. Epub 2022 Mar 24.

Pediatric Surgery, The Children's Hospital and University of Child Health Sciences, Lahore, PAK.

Background Anatomical abnormalities leading to bowel movement failure are the major cause of intestinal obstruction. This study was done to assess the diagnostic efficacy of contrast enema in neonates with lower intestinal obstruction. Methodology This prospective study was conducted in The Children's Hospital and University of Child Health Sciences, Lahore from February 2021 to July 2021. Read More

J Cyst Fibros 2022 Apr 11. Epub 2022 Apr 11.

Medical University of South Carolina, Charleston, SC 29424, USA.

We report elexacaftor-tezacaftor-ivacaftor (ETI) treatment of a F508del carrier who was pregnant with a F508del homozygous fetus. At 23-weeks gestation meconium ileus (MI) was evident on ultrasound including dilated, hyperechoic bowel, which persisted on subsequent imaging. Through shared decision-making, the mother began ETI at 32 weeks with intent to treat fetal MI. Read More

J Pediatr Surg 2022 Mar 2. Epub 2022 Mar 2.

Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam Gastroenterology and Metabolism Research Institute and Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam 1105 AZ, the Netherland.

Background: Patients with Hirschsprung disease (HD) mostly undergo surgery around the age of three to six months. While awaiting surgery, therapy to treat the obstruction such as transanal irrigation (TAI) or laxatives is applied. The aim of this study was to gain insight in the prevalence and severity of complications occurring while awaiting surgery and to identify patient characteristics associated with the development of these complications. Read More

Best Pract Res Clin Gastroenterol 2022 Feb-Mar;56-57:101788. Epub 2022 Feb 24.

Univ. Lille, Inserm, CHU Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, F-59000, Lille, France; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Jeanne de Flandre Children's Hospital, CHU Lille, F-59000, Lille, France. Electronic address:

Cystic fibrosis (CF) is the most frequent life-limiting autosomal recessive disease in Caucasians, affecting the respiratory tract, but also the pancreas, gut, and hepatobiliary tract. CF is caused by variants in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Prognosis of CF has markedly improved over the last 20 years because of the management in CF centers and recent introduction of CFTR modulators, aimed at correcting the defective CFTR protein. Read More

AJP Rep 2022 Jan 25;12(1):e89-e95. Epub 2021 Oct 25.

Division of Neonatology, Nagano Children's Hospital, Nagano, Japan.

Today, more infants weighing less than or equal to 300 g are born, and they survive because of the improvements in neonatal care and treatment. However, their detailed clinical course and neonatal intensive care unit management remain unknown due to their low survival rate and dearth of reports. A male infant was born at 24 weeks and 5 days of gestation and weighed 258 g. Read More

J Pediatr Surg 2022 Jan 21. Epub 2022 Jan 21.

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, Department of Paediatric Surgery, Meibergdreef 9, 1005 AZ, Amsterdam, Netherlands; Tytgat Institute for Liver and Intestinal Research, Amsterdam UMC, University of Amsterdam, Netherlands.

Background: Adhesions following abdominal surgery can cause small bowel obstruction (SBO) necessitating surgery. Whilst some studies have addressed SBO in children, the incidence of SBO, the diseases that are of increased risk as well as risk factors in young children remain unclear. Therefore, this study aims to determine; (1) the general incidence of SBO in young children, (2) which diseases entail highest incidence of SBO and (3) risk factors for SBO in young children. Read More

Pediatr Pulmonol 2022 05 11;57(5):1245-1252. Epub 2022 Feb 11.

Department of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.

Background: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease.

Methods: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data. Read More

Respir Med 2022 02 6;192:106736. Epub 2022 Jan 6.

Pediatric Pulmonology and Cystic Fibrosis Unit, Hospital Clinico Universitario Virgen de la Arrixaca, Murcia, Spain; Department of Surgery, Paediatrics, Obstetrics and Genecology, Universidad de Murcia, Spain. Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.

Background: A1006E is a Cystic Fibrosis (CF) mutation that is still not widely known. We report phenotypic features and geographic distribution of the largest cohort of people with CF (pwCF) carrying A1006E to date.

Methods: Study of European pwCF carrying A1006E mutation, included in the European CF Society Patient Registry (ECFSPR). Read More

Neonatology 2022 11;119(1):68-76. Epub 2022 Jan 11.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Introduction: We experienced an increased incidence of meconium-related ileus (MRI) in extremely premature infants (EPIs) while adopting the antenatal magnesium sulfate (MgSO4) protocol for fetal neuroprotection in our neonatal intensive care unit. This study aimed to test whether antenatal MgSO4 use was associated with increased risk of MRI in EPIs.

Methods: The incidences of complicated MRI requiring aggressive enema or surgical intervention and other intestinal complications were compared among period 1 (January 2012-December 2013, n = 79), before adoption of the antenatal MgSO4 protocol for fetal neuroprotection; period 2 (January 2014-March 2016, n = 72), when the protocol was adopted; and period 3 (April 2016-September 2018, n = 75), when the protocol was temporarily withdrawn due to concern regarding intestinal complications in EPIs. Read More

Korean J Radiol 2022 01;23(1):124-138

Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Gastrointestinal (GI) emergencies in neonates and infants encompass from the beginning to the end of the GI tract. Both congenital and acquired conditions can cause various GI emergencies in neonates and infants. Given the overlapping or nonspecific clinical findings of many different neonatal and infantile GI emergencies and the unique characteristics of this age group, appropriate imaging is key to accurate and timely diagnosis while avoiding unnecessary radiation hazard and medical costs. Read More

J Pediatr (Rio J) 2021 Dec 22. Epub 2021 Dec 22.

Institute of Mother and Child, Cystic Fibrosis Department, Warsaw, Poland; Children's Hospital in Dziekanów Leśny, Cystic Fibrosis Center, Warsaw, Poland.

Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS).

Materials And Methods: All children presented in this paper were covered by CF NBS. The group of 1. Read More

J Cyst Fibros 2022 May 9;21(3):422-433. Epub 2021 Nov 9.

Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 130.3, D-69120 Heidelberg, Germany; Division of Neuropediatrics and Metabolic Medicine and Newborn Screening Center, Department of Paediatrics I, Center for Pediatric and Adolescent Medicine University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

Background: Previous studies suggest that PAP-based CF protocols are suitable for newborn screening (NBS) for cystic fibrosis (CF) when newborns designated as CFSPID should not be detected. However, there are still discussions about the performance of IRT/PAP algorithms. We present the final results of a pilot study evaluating a IRT/PAP protocol with an IRT-dependent safety net (SN) conducted from 2008 to 2016 in southwestern Germany on nearly 500,000 newborns. Read More

Arch Endocrinol Metab 2021 Oct 29;65(5):632-639. Epub 2021 Sep 29.

Departamento de Pediatria, Universidade Federal do Rio Grande do Sul; Serviço de Pneumologia Pediátrica do Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.

Objective: Patients with cystic fibrosis (CF) have a high incidence of pubertal and growth delay. In girls with CF, pubertal delay has an important psychological impact. Still, only a few studies have explored the occurrence of pubertal delay in girls with CF. Read More

Acta Physiol (Oxf) 2022 01 15;234(1):e13729. Epub 2021 Oct 15.

Department of Gastroenterology, Hannover Medical School, Hannover, Germany.

Aim: Slc26a9 is a member of the Slc26 multifunctional anion transporter family. Polymorphisms in Slc26a9 are associated with an increased incidence of meconium ileus and diabetes in cystic fibrosis patients. We investigated the expression of Slc26a9 in the murine pancreatic ducts, islets and parenchyma, and elucidated its role in pancreatic ductal electrolyte and fluid secretion and endocrine function. Read More

J Cyst Fibros 2022 03 1;21(2):302-308. Epub 2021 Aug 1.

National Heart and Lung Institute, Imperial College, London; Royal Brompton Hospital, London. Electronic address:

To assess cancer incidence in the UK cystic fibrosis (CF) population and determine the associated risk factors, we undertook a nested case-control study of patients with CF, registered with the UK CF Registry. Each case with a first reported cancer between 1999 and 2017 was matched with up to 4 controls: by age (±2-years) and year of cancer diagnosis. Conditional logistic regressions were adjusted for sex, lung function (FEV%), CF related diabetes (CFRD), F508del status, transplant status, DIOS, gastro-oesophageal reflux disease, meconium ileus, Pseudomonas aeruginosa infection, pancreatic insufficiency, proton pump inhibitor (PPI) use, IV antibiotic days and BMI. Read More

Zhonghua Er Ke Za Zhi 2021 Aug;59(8):689-694

Department of Respiration, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.

To analyze the cystic fibrosis transmembrane conductance regulator (CFTR) gene variations and phenotypes in 7 Chinese children. In this retrospective study, the data of 7 children with CFTR gene variations admitted to Children's Hospital of Chongqing Medical University from December 2013 to October 2020 were extracted. The general information, clinical manifestations, gene variations, diagnosis and treatment were summarized. Read More

Wien Klin Wochenschr 2021 Jul 10;133(13-14):680-686. 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 06 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 Jul 27;56(7):1117-1120. 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 09 18;20(5):e84-e86. 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 03 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 Aug 24;56(8):1287-1292. 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