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Failure to thrive

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https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#1
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211131/congenital-diaphragmatic-hernia-outcomes-of-neonates-treated-at-mayo-clinic-with-and-without-extracorporeal-membrane-oxygenation
#2
Katarina Bojanić, Jason M Woodbury, Alexandre N Cavalcante, Ruža Grizelj, Garth F Asay, Christopher E Colby, William A Carey, Gregory J Schears, Toby N Weingarten, Darrell R Schroeder, Juraj Sprung
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare anomaly with high mortality and long-term comorbid conditions. AIMS: Our aim was to describe the presenting characteristics, treatment, and outcomes of consecutive patients with CDH treated at our institution. METHODS: We performed a retrospective cohort study and identified consecutive neonates treated for CDH from 2001 to 2015 at our institution. For all patients identified, we reviewed hospital and postdischarge data for neonatal, disease, and treatment characteristics...
February 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28208841/assessment-of-correlation-between-sweat-chloride-levels-and-clinical-features-of-cystic-fibrosis-patients
#3
Manzoor A Raina, Mosin S Khan, Showkat A Malik, Ab Hameed Raina, Mudassir J Makhdoomi, Javed I Bhat, Syed Mudassar
INTRODUCTION: Cystic Fibrosis (CF) is an autosomal recessive disorder and the incidence of this disease is undermined in Northern India. The distinguishable salty character of the sweat belonging to individuals suffering from CF makes sweat chloride estimation essential for diagnosis of CF disease. AIM: The aim of this prospective study was to elucidate the relationship of sweat chloride levels with clinical features and pattern of CF. MATERIALS AND METHODS: A total of 182 patients, with clinical features of CF were included in this study for quantitative measurement of sweat chloride...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#4
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#5
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28190605/the-importance-of-age-and-weight-on-cavopulmonary-shunt-stage-ii-outcomes-after-the-norwood-procedure-planned-versus-unplanned-surgery
#6
David J Barron, Intisar Ul Haq, Adrian Crucean, John Stickley, Phil Botha, Natasha Khan, Timothy J Jones, William J Brawn
OBJECTIVE: The study objective was to evaluate the outcomes of the cavopulmonary shunt after the Norwood procedure with a particular focus on age, weight, and whether surgery was planned or expedited by clinical findings. METHODS: We studied 297 consecutive patients with hypoplastic left heart syndrome undergoing the cavopulmonary shunt operation between 2002 and 2014. All patients underwent the Norwood procedure with a right ventricle to pulmonary artery conduit...
January 17, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28180937/guidelines-for-the-management-of-postoperative-obstructive-symptoms-in-children-with-hirschsprung-disease
#7
REVIEW
J C Langer, M D Rollins, M Levitt, A Gosain, L de la Torre, R P Kapur, R A Cowles, J Horton, D H Rothstein, A M Goldstein
Although most children with Hirschsprung disease ultimately do well, many experience a variety of ongoing problems after pull-through surgery. The most common include obstructive symptoms, soiling, enterocolitis and failure to thrive. The purpose of this guideline is to present a rational approach to the management of postoperative obstructive symptoms in children with Hirschsprung disease. The American Pediatric Surgical Association Board of Governors established a Hirschsprung Disease Interest Group. Group discussions, literature review and expert consensus were then used to summarize the current state of knowledge regarding causes, methods of diagnosis, and treatment approaches to children with obstructive symptoms following pull-through for Hirschsprung disease...
February 8, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28179030/survival-in-infants-treated-with-sebelipase-alfa-for-lysosomal-acid-lipase-deficiency-an-open-label-multicenter-dose-escalation-study
#8
Simon A Jones, Sandra Rojas-Caro, Anthony G Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang, Vassili Valayannopoulos
BACKGROUND: Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell transplantation, which is associated with high morbidity and mortality in this population. The study objective was to evaluate safety and efficacy (including survival) of enzyme replacement with sebelipase alfa in infants with lysosomal acid lipase deficiency...
February 8, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#9
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28159744/effectiveness-of-fundoplication-or-gastrojejunal-feeding-in-children-with-neurologic-impairment
#10
Bryan Stone, Gabrielle Hester, Daniel Jackson, Troy Richardson, Matt Hall, Ramkiran Gouripeddi, Ryan Butcher, Ron Keren, Rajendu Srivastava
BACKGROUND AND OBJECTIVES: Gastroesophageal reflux (GER), aspiration, and secondary complications lead to morbidity and mortality in children with neurologic impairment (NI), dysphagia, and gastrostomy feeding. Fundoplication and gastrojejunal (GJ) feeding can reduce risk. We compared GJ to fundoplication using first-year postprocedure reflux-related hospitalization (RRH) rates. METHODS: We identified children with NI, dysphagia requiring gastrostomy tube feeding and GER undergoing initial GJ placement or fundoplication from January 1, 2007 to December 31, 2012...
February 3, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28152538/two-cases-of-mistaken-polyuria-and-nephrocalcinosis-in-infants-with-glucose-galactose-malabsorption-a-possible-role-of-1-25-oh-2d3%C3%A2
#11
Melissa Fiscaletti, Marie-Jeanne Lebel, Nathalie Alos, Geneviève Benoit, Prévost Jantchou
BACKGROUND/AIMS: Glucose-galactose malabsorption (GGM) is a rare and potentially fatal disorder. The autosomal recessive mutation of the SGLT1 gene interferes with the active glucose transport in the gut resulting in osmotic diarrhea and failure to thrive (FTT). Two nonrelated infants with GGM are presented as well as a novel mutation in SGLT1. CASE PRESENTATION: The first case consulted for FTT and presented with hypercalcemia and hypercalciuria. His mother had self-medicated with high doses of vitamin D...
February 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28141916/justifying-non-standard-exception-requests-for-pediatric-liver-transplant-candidates-an-analysis-of-narratives-submitted-to-the-united-network-for-organ-sharing-2009-2014
#12
Emily R Perito, Hillary J Braun, Jennifer L Dodge, Sue Rhee, John P Roberts
Non-standard exception requests (NSERs), for which transplant centers provide patient-specific narratives to support a higher MELD/PELD score, are made for > 30% of pediatric liver transplant candidates. We describe the justifications used in pediatric NSER narratives 2009-2014 and identify justifications associated with NSER denial, waitlist mortality, and transplant. Using UNOS data, 1,272 NSER narratives from 1,138 children with NSERs were coded for analysis. The most common NSER justifications were failure-to-thrive (48%) and risk of death (40%); both associated with approval...
January 31, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28139825/attenuated-phenotype-of-costello-syndrome-and-early-death-in-a-patient-with-an-hras-mutation-c-179g-t-p-gly60val-affecting-signalling-dynamics
#13
Karen W Gripp, Verena Kolbe, Laura Isabel Brandenstein, Georg Rosenberger
Costello syndrome (CS) is caused by heterozygous germline HRAS mutations. Most patients share the HRAS mutation c.34G>A (p.Gly12Ser) associated with the typical, relatively homogeneous phenotype. Rarer mutations occurred in individuals with an attenuated phenotype. Though many disease-associated HRAS alterations trigger constitutive activation of HRAS-dependent signalling pathways, additional pathological consequences exist. An infant with failure-to-thrive and hypertrophic cardiomyopathy had a novel de novo HRAS mutation (c...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28137906/idiosyncratic-drug-reactions-and-membranous-glomerulopathy
#14
Amrit Kirpalani, Michael J Rieder, Kevin C Bax, Guido Filler
An infant boy with steroid-resistant nephrotic syndrome (idiopathic membranous glomerulonephropathy) achieved remission with ciclosporin but developed eosinophilia and high IgE levels (max 19 000  iU/mL). Conversion to tacrolimus resulted in chronic diarrhoea (eosinophilic gastroenteritis), muscle weakness, polyserositis and failure-to-thrive. In contrast, a trial without tacrolimus resulted in a ciclosporin-responsive relapse, therapy-resistant focal seizures with generalised spikes, worsening muscle weakness and diarrhoea...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28132692/a-recurrent-de-novo-variant-in-nacc1-causes-a-syndrome-characterized-by-infantile-epilepsy-cataracts-and-profound-developmental-delay
#15
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R Bearden, Asbjorg Stray-Pedersen, Oyvind L Busk, Nicholas Stong, Eriskay Liston, Ronald D Cohn, Fernando Scaglia, Jill A Rosenfeld, Jennifer Tarpinian, Cara M Skraban, Matthew A Deardorff, Jeremy N Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A Mikati, Peter G Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F Nelson, Hane Lee, Naghmeh Dorrani, David B Goldstein, Rui Xiao, Yaping Yang, Jennifer E Posey, Julian A Martinez-Agosto, James R Lupski, Michael F Wangler, Vandana Shashi
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28124082/novel-compound-heterozygous-mutations-in-zap70-in-a-chinese-patient-with-leaky-severe-combined-immunodeficiency-disorder
#16
Qing Liu, Yan-Ping Wang, Qiao Liu, Qin Zhao, Xue-Mei Chen, Xiu-Hong Xue, Li-Na Zhou, Yuan Ding, Xue-Mei Tang, Xiao-Dong Zhao, Zhi-Yong Zhang
In humans, the complete lack of tyrosine kinase ZAP70 function results in combined immunodeficiency (CID), with abnormal thymic development and defective T cell receptor (TCR) signaling of peripheral T cells, characterized by the selective absence of CD8(+) T cells. So far, 15 unique ZAP70 mutations have been identified in approximately 20 patients with CID, with variable clinical presentations. Herein, we report the first case from China of novel compound heterozygous mutations in ZAP70 (c.598-599delCT, p...
January 26, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28106514/endonasal-management-of-pediatric-congenital-transsphenoidal-encephaloceles-nuances-of-a-modified-reconstruction-technique-technical-note-and-report-of-3-cases
#17
Mehdi Zeinalizadeh, Seyed Mousa Sadrehosseini, Zohreh Habibi, Farideh Nejat, Harley Brito da Silva, Harminder Singh
OBJECTIVE Congenital transsphenoidal encephaloceles are rare malformations, and their surgical treatment remains challenging. This paper reports 3 cases of transsphenoidal encephalocele in 8- to 24-month-old infants, who presented mainly with airway obstruction, respiratory distress, and failure to thrive. METHODS The authors discuss the surgical management of these lesions via a minimally invasive endoscopic endonasal approach, as compared with the traditional transcranial and transpalatal approaches. A unique endonasal management algorithm for these lesions is outlined...
January 20, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28102625/neonatal-stridor-and-laryngeal-cyst-which-comes-first
#18
Lucia Marseglia, Gabriella D'Angelo, Pietro Impellizzeri, Vincenzo Salvo, Natalia Catalano, Rocco Bruno, Claudio Galletti, Bruno Galletti, Francesco Galletti, Eloisa Gitto
Neonatal stridor is a rare condition usually caused by laryngomalacia. Congenital laryngeal cyst represents an uncommon cause of stridor in the neonatal population and may be misinterpreted as laryngomalacia, leading to serious morbidity and mortality if diagnosis and treatment are delayed. Herein we report the case of a full-term infant with stridor, feeding problems and failure to thrive. Initially, direct laryngoscopy diagnosed only laryngomalacia. As stridor worsened, however, and respiratory distress appeared, repeat laryngoscopy showed vallecular laryngeal cyst, visible macroscopically...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28100972/unrepaired-tetralogy-of-fallot-with-absent-pulmonary-valve-in-a-mildly-symptomatic-16-year-old-boy
#19
Diana E Drogalis-Kim, Brian L Reemtsen, Leigh Christopher Reardon
Absent pulmonary valve is a rare and severe variant seen in only 3% to 6% of patients with tetralogy of Fallot. Fetuses with this combined condition who survive through birth typically need intervention in infancy or early childhood because of respiratory distress, heart failure, or failure to thrive. We describe the unusual case of a mildly symptomatic 16-year-old boy with these conditions who underwent successful primary repair. Our search of the medical literature yielded fewer than 5 cases of tetralogy of Fallot with absent pulmonary valve (or variants with an absent left pulmonary artery) and survival without repair into later adolescence or adulthood...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28100157/characterization-of-planned-and-unplanned-30-day-readmissions-following-vascular-surgical-procedures
#20
Georges Tahhan, Alik Farber, Nishant K Shah, Brianna M Krafcik, Teviah E Sachs, Jeffrey A Kalish, Matthew R Peacock, Jeffrey J Siracuse
OBJECTIVE: Thirty-day readmission is increasingly used as a quality of care indicator. Patients undergoing vascular surgery have historically been at high risk for readmission. We analyzed hospital readmission details to identify patients at high risk for readmission in order to better understand these readmissions and improve resource utilization in this patient population. METHODS: A retrospective review and analysis of our medical center's admission and discharge data were conducted from October 2012 to March 2015...
January 2017: Vascular and Endovascular Surgery
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