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Ir Med J 2019 Mar 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

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

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

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

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

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

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

J Proteome Res 2019 Mar 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

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

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

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

Pediatr Neonatol 2018 Aug 2. 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

Hepatology 2019 Apr 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

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

Arch Bronconeumol 2018 Nov 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

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

Prenat Diagn 2018 08 21;38(9):685-691. Epub 2018 Jun 21.

Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA.

Objective: To review fetal MRI cases surgically proven to have meconium ileus (MI) and obstruction, describe the common fetal MRI findings that distinguish cases of complicated MI, and to compare these findings with surgical images and perinatal outcomes.

Method: We performed a retrospective review of all fetal MRI examinations and the corresponding medical record from our tertiary care children's hospital over an 18-month period. Postnatal management and outcomes were reviewed for these patients, and those patients with surgical or postmortem diagnosis of complicated MI were included in the study. Read More

Pediatr Int 2018 Aug 10;60(8):714-718. Epub 2018 Jul 10.

Department of Pediatric Surgery, Kagoshima University, Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima, Japan.

Background: Intestinal disorders are common in very low-birthweight infants. The purpose of this study was to evaluate the impact of prophylactic oral Gastrografin (diatrizoate acid) on meconium-related ileus (MRI) in extremely preterm infants.

Methods: This was a retrospective case-control study of infants born extremely preterm at <28 weeks of gestation and treated with diatrizoate acid (prophylactic group) or not (control group) in the periods 2007-2014 and 2000-2009, respectively. Read More

ERJ Open Res 2018 Apr 20;4(2). Epub 2018 Apr 20.

Centre for Cystic Fibrosis, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.

Newborn screening (NBS) for cystic fibrosis (CF) has been gradually established in several countries, but scant data are available on its long-term effects on survival. Our objective was to evaluate the long-term effects of CF NBS on survival. 586 patients, diagnosed and followed between 1971 and 2014 at the Verona CF Centre were analysed. Read More

N Engl J Med 2018 Mar;378(12):1142

University of Iowa Stead Family Children's Hospital, Iowa City, IA

Curr Opin Pulm Med 2018 05;24(3):296-308

Department of Pediatrics.

Purpose Of Review: To compile data from the past 10 years regarding the role of modifying genes in cystic fibrosis (CF).

Recent Findings: CF is a model disease for understanding of the action of modifying genes. Although it is a monogenic (CFTR) autosomal recessive disease, CF presents with wide phenotypic variability. Read More

Clin Colon Rectal Surg 2018 Mar 25;31(2):121-126. Epub 2018 Feb 25.

Department of Surgery, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington.

Cystic fibrosis is one of the most common inheritable traits in Caucasians. Meconium ileus and its potential complications are the most likely reasons that these patients will need surgical care. Surgical intervention is usually needed in the neonatal period but may also be required later in life. Read More

J Cyst Fibros 2018 Jul 1;17(4):528-535. Epub 2018 Feb 1.

Department of Nutritional Sciences, 1415 Linden Dr, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53706, USA; Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA; Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA. Electronic address:

Background: In children with cystic fibrosis (CF), recovery from growth faltering within 2 years of diagnosis (Responders) is associated with better growth and less lung disease at age 6 years. This study examined whether these benefits are sustained through 12 years of age.

Methods: Longitudinal growth from 76 children with CF enrolled in the Wisconsin CF Neonatal Screening Project was examined and categorized into 5 groups: R, R, and R, representing Responders who maintained growth improvement to age 12, 6, and 2 years, respectively, and I and N representing Non-responders whose growth did and did not improve during ages 2-6 years, respectively. Read More

J Pediatr Surg 2018 Aug 15;53(8):1504-1508. Epub 2017 Nov 15.

Department of Pediatric Surgery, 'Aghia Sophia' Children's Hospital, Athens, Greece. Electronic address:

Background/purpose: In the few studies on intestinal complications and growth of cystic fibrosis (CF) patients with a history of meconium ileus (MI), operated MI has not been investigated separately. We aimed to investigate the incidence of long-term intestinal obstruction sequelae [constipation, distal intestinal obstruction syndrome (DIOS)] and growth in CF patients operated for MI.

Methods: Retrospective study (1989-2016) including operative diagnoses and procedures, constipation and DIOS events, yearly Body Mass Index (BMI) measurements. Read More

J Pediatr Endocrinol Metab 2017 Oct;30(11):1169-1176

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Background: Pediatric cystic fibrosis (CF) patients suffer high rates of undernutrition, subject to several parameters. We aimed to assess growth and nutritional status of Greek children and adolescents with CF.

Methods: Eighty-four patients (35 boys) formed the sample. Read More

J Cyst Fibros 2017 Nov;16 Suppl 2:S32-S39

University Medical Centre of Utrecht, Netherlands.

Meconium ileus (MI) is often the first manifestation of cystic fibrosis (CF) and occurs in approximately 20% of patients diagnosed with CF. This article reviews the pathophysiology of MI and its clinical presentation. It focuses on the medical and surgical management emphasizing the importance of nutrition and a multidisciplinary approach to improve both short-term and long-term outcomes for CF patients with MI. Read More

JCI Insight 2017 10 5;2(19). Epub 2017 Oct 5.

Division of Pulmonary Medicine, Department of Pediatrics, and.

Cystic fibrosis (CF) is a genetic disorder in which epithelium-generated fluid flow from the lung, intestine, and pancreas is impaired due to mutations disrupting CF transmembrane conductance regulator (CFTR) channel function. CF manifestations of the pancreas and lung are present in the vast majority of CF patients, and 15% of CF infants are born with obstructed gut or meconium ileus. However, constipation is a significantly underreported outcome of CF disease, affecting 47% of the CF patients, and management becomes critical in the wake of increasing life span of CF patients. Read More

Ann Surg Treat Res 2017 Sep 30;93(3):137-142. Epub 2017 Aug 30.

Division of Pediatric Surgery, Department of General Surgery, Dong-A University College of Medicine, Dong-A University Hospital, Busan, Korea.

Purpose: I introduce the use of transanal intestinal long tube (TILT) using nasogastric tube. TILT passes from anus to the anastomosis, helping to decompress a dilated bowel loop.

Methods: TILT procedure was limited to those patients predicting a severe luminal size discrepancy after intestinal anastomosis, and who had postoperative prolonged ileus. Read More

J Neonatal Surg 2017 Jul-Sep;6(3):56. Epub 2017 Aug 10.

Department of Surgery, Dhaka Shishu (Children) Hospital, Dhaka.

Background: Meconium ileus is a common cause of neonatal intestinal obstruction. Various surgical procedures are in practice for uncomplicated meconium ileus. Bishop Koop ileostomy allows distal passage of gut content and uses the distal absorptive area. Read More

J Pediatr Surg 2017 Nov 15;52(11):1873-1877. Epub 2017 Aug 15.

Department of Surgery, Omiya Medical Center, Jichi Medical University, Saitama, Japan.

Objective: In recent years, improved survival rates of extremely low birth weight infants (ELBWIs) have led to an increasing number of enterostomy performed for those with meconium obstruction of prematurity (MOP), spontaneous intestinal perforation (SIP). To prevent serious stoma-related complications such as stoma side perforation, prolapse, fall and surgical site infection, we introduce our new "sutureless enterostomy" technique.

Methods: We present the procedures in detail. Read More

Radiol Clin North Am 2017 Jul 27;55(4):717-739. Epub 2017 Apr 27.

Department of Radiology, Seattle Children's Hospital, University of Washington School of Medicine, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA. Electronic address:

Neonatal gastrointestinal emergencies are caused by a diverse set of primarily congenital entities that may affect the upper or lower gastrointestinal tracts, and occasionally both. Although a diagnosis can sometimes be made on prenatal imaging, more commonly patients present after birth and require prompt diagnosis to facilitate timely treatment. Imaging plays a central role in the accurate diagnosis of these entities and typically consists of an initial abdominal series followed by either an upper gastrointestinal series or contrast enema. Read More

PLoS One 2017 4;12(5):e0174463. Epub 2017 May 4.

Jena University Hospital, Cystic Fibrosis Center, Jena, Germany.

Background & Aims: Abdominal symptoms (AS) are a hallmark of the multiorgan-disease cystic fibrosis (CF). However, the abdominal involvement in CF is insufficiently understood and, compared to the pulmonary manifestation, still receives little scientific attention. Aims were to assess and quantify AS and to relate them to laboratory parameters, clinical findings, and medical history. Read More

JAMA Pediatr 2017 06;171(6):546-554

Cystic Fibrosis Foundation Therapeutics Development Network Coordinating Center, Seattle Children's Research Institute, Seattle, Washington3Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington, Seattle.

Importance: Since the implementation of universal newborn screening (NBS) for cystic fibrosis (CF), the timing and magnitude of growth deficiency or its association with correlates of disease among infants with CF who underwent NBS has not been well described.

Objective: To examine incremental weight gain, linear growth, and clinical features in the first year of life among infants with CF who underwent NBS.

Design, Setting, And Participants: The Baby Observational and Nutrition Study (BONUS), a multicenter, longitudinal, observational cohort study, was conducted during regular CF clinic visits in the first 12 months of life at 28 US Cystic Fibrosis Foundation-accredited Care Centers from January 7, 2012, through May 31, 2015. Read More

J Biol Chem 2017 06 18;292(22):9164-9174. Epub 2017 Apr 18.

From the Center for the Investigation of Membrane Excitability Diseases,

Calcium-activated chloride channels (CaCCs) are key players in transepithelial ion transport and fluid secretion, smooth muscle constriction, neuronal excitability, and cell proliferation. The CaCC regulator 1 (CLCA1) modulates the activity of the CaCC TMEM16A/Anoctamin 1 (ANO1) by directly engaging the channel at the cell surface, but the exact mechanism is unknown. Here we demonstrate that the von Willebrand factor type A (VWA) domain within the cleaved CLCA1 N-terminal fragment is necessary and sufficient for this interaction. Read More

Eur J Pediatr 2017 Jun 13;176(6):737-743. Epub 2017 Apr 13.

Pediatric Pulmonology Unit, First Department of Pediatrics, National and Kapodistrian University of Athens School of Medicine and Aghia Sophia Children's Hospital, Thivon and Papadiamantopoulou St., 115 27, Athens, Greece.

The aim of this study was to explore whether history of meconium ileus (MI) at birth in children and adolescents with cystic fibrosis (CF) adversely affects body composition and lung function in later life. Data of children and adolescents with CF who underwent spirometry and DXA as part of their routine care were analyzed. Associations between MI (explanatory variable) and areal bone mineral density (total body less head-TBLH aBMD), lean tissue mass (LTM), and fat mass (FM) (outcomes) were assessed using general linear models. Read More

Surg Today 2017 Aug 28;47(8):1001-1006. Epub 2017 Feb 28.

Department of Pediatric Surgery, Osaka University Graduate School of Medicine, Suita, Japan.

Purpose: Very low birth weight infants (VLBWIs) are at risk of surgical intestinal disorders including necrotizing enterocolitis (NEC), focal intestinal perforation (FIP), and meconium-related ileus (MRI). We conducted this study to verify whether the timing of stoma closure and that of enteral nutrition establishment after stoma closure in VLBWIs differ among the most common disorders.

Methods: A retrospective multicenter study was conducted at 11 institutes. Read More

Khirurgiia (Mosk) 2017(1):54-57

Stavropol State Medical University, Russian Federation.

Aim: To investigate the complications of intestinal stoma in children and to develop measures for decrease of their incidence.

Material And Methods: The study included 152 children with congenital and acquired gastrointestinal pathology requiring surgical treatment with the imposition of intestinal stoma. Atresia of intestinal tube was observed in 28 (18. Read More

J Neonatal Surg 2017 Jan-Mar;6(1). Epub 2017 Jan 1.

Department of Pediatric Surgery, Kepler University Hospital, Linz.

Background: In very low birth weight infants abdominal emergency surgery may result in ileostomy formation. We observed a frequent stoma complications in these patients. This retrospective analysis put light on ileostomy-related problems and complications in very low birth weight (VLBW) infants. Read More

BMJ Case Rep 2016 Dec 21;2016. Epub 2016 Dec 21.

Department of Chirurgie Pédiatrique, Centre Hospitalier Regional Universitaire de Besançon, Besançon, France.

Intestinal volvulus is a life-threatening emergency requiring prompt surgical management. Prenatal intestinal volvulus is rare, and most are secondary to intestinal atresia, mesenteric defect or without any underlying cause. Cystic fibrosis (CF) is known to cause digestive tract disorders. Read More

J Neonatal Surg 2016 Oct-Dec;5(4):46. Epub 2016 Oct 10.

Department of Pediatric Surgery, Maternity and Children Hospital, Mecca, KSA.

To evaluate the results of the use of the T-tube ileostomy in neonatal intestinal surgery cases. A retrospective review of sixty two neonates underwent intestinal obstruction surgery by using T-tube ileostomy was conducted between January 1990 and January 2013.The pathologies of the intestinal obstruction were; thirty four of jejunoileal atresia cases, thirteen case meconium ileus, eight cases perforated necrotizing enterocolitis (NEC), three cases meconium peritonitis, three cases with bowel resection due to intestinal volvulus, and one case of gastroschisis. Read More

Zhonghua Er Ke Za Zhi 2016 Nov;54(11):851-855

Department of Pediatrics, Jinshan Hospital Affiliated to Fudan University, Shanghai 201508, China.

To study the clinical presentation, biochemical features and genetic analysis of an infant with cholestasis related to the CFTR mutations. The clinical presentation, laboratory investigations and management of a case with infantile cholestasis caused by CFTR mutations were summarized and the relevant literature was reviewed. (1) The patient was a 5 months old boy with cholestasis which developed in neonatal period with delayed meconium exclusion. Read More

Kinderkrankenschwester 2016 11;35(11):405-409

J Pediatr 2017 01 25;180:206-211.e1. Epub 2016 Oct 25.

Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA; The Forsyth Institute, Cambridge, MA.

Objective: To determine whether cystic fibrosis (CF) is associated with adverse neonatal outcomes in a recent birth cohort in the US.

Study Design: A retrospective matched cohort study of infants born in Washington State from 1996 to 2013 was identified through birth certificate data and linked to statewide hospital discharge data. Infants with CF were identified by hospitalization (through age 5 years) in which a CF-specific International Classification of Diseases, Ninth Revision code was recorded. Read More

Zhonghua Wei Chang Wai Ke Za Zhi 2016 Oct;19(10):1154-1159

Department of Neonatal Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.

Objective: To explore the feasibility and safety of Bishop-Koop stoma procedure in the treatment of neonates with refractory congenital intestinal atresia.

Methods: Clinical and follow-up data of 25 neonates with refractory congenital intestinal atresia undergoing Bishop-Koop stoma procedure in our center from January 2011 to December 2014 were retrospectively analyzed. Of 25 neonates, 13 (52%) were male, 12(48%) were female, the birth weight was 1600-3800 g (mean 2920 g), the age of admission was 10 hours to 20 days, and the age of operation was 1-58 d (mean 7 d). Read More

Pediatr Pulmonol 2016 12 14;51(12):1295-1303. Epub 2016 Oct 14.

Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin.

Background: Previous estimates of the cost of care for pediatric Cystic fibrosis (CF) showed wide variation, without specific summary of pulmonary drug costs.

Methods: Enrolled CF children from the Wisconsin newborn screening trial were evaluated quarterly per protocol. Assessments systematically included all treatments, hospitalizations, and nutritional and pulmonary outcomes. Read More

Pediatr Surg Int 2017 Jan 30;33(1):33-41. Epub 2016 Sep 30.

Committee of Academic Surveys and Advanced Medical Science, Japanese Society of Pediatric Surgeons, Tokyo, Japan.

Purpose: The purpose of this study is to identify the current clinical features of neonatal gastrointestinal perforation in Japan.

Methods: A questionnaire about cases of neonatal gastrointestinal perforation treated in recent 5 years was sent to participating institutions of the Japanese Society of Pediatric Surgeons (JSPS).

Results: Five hundred and thirty-six neonates with gastrointestinal perforation were treated. Read More

BMC Med Res Methodol 2016 09 17;16(1):122. Epub 2016 Sep 17.

Department of Nutritional Sciences, University of Wisconsin, 1415 Linden Drive, Madison, 53706, WI, USA.

Background: Persistent Pseudomonas aeruginosa (PPA) infection promotes lung function deterioration in children with cystic fibrosis (CF). Although early CF diagnosis through newborn screening (NBS) has been shown to provide nutritional/growth benefit, it is unclear whether NBS lowers the risk of PPA infection and how the effect of NBS vary with age. Modeling the onset age of PPA infection is challenging because 1) the onset age of PPA infection is interval censored in patient registry data; and 2) some risk factors such as NBS may have time-varying effects. Read More

J Cyst Fibros 2017 01 20;16(1):139-145. Epub 2016 Aug 20.

Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition and Digestive Health Institute, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, United States. Electronic address:

Background: Prevalence and risks for elevated liver enzymes have not been studied systematically in children with CF identified by newborn screen.

Methods: 298 CF children identified by newborn screen since 1982. AST, ALT and GGT tested at annual visits. Read More