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https://www.readbyqxmd.com/read/27916444/influence-of-weight-at-enterostomy-reversal-on-surgical-outcomes-in-infants-after-emergent-neonatal-stoma-creation
#1
Lindsay J Talbot, Robert D Sinyard, Kristy L Rialon, Brian R Englum, Elizabeth T Tracy, Henry E Rice, Obinna O Adibe
PURPOSE: Neonates after emergent enterostomy creation frequently require reversal at low weight because of complications including cholestasis, dehydration, dumping, failure to thrive, and failure to achieve enteral independence. We investigated whether stoma reversal at low weight (< 2.5kg) is associated with poor surgical outcomes. METHODS: Patients who underwent enterostomy reversal from 2005 to 2013 at less than 6months old were identified in our institutional database...
October 25, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27915443/successful-combination-of-endoscopic-pyloromyotomy-and-balloon-dilatation-for-hypertrophic-pyloric-stenosis-in-an-older-child-a-novel-procedure
#2
Satoshi Yokoyama, Shiro Uyama, Hiroyoshi Iwagami, Yukitaka Yamashita
BACKGROUND: Hypertrophic pyloric stenosis (HPS) is a rare cause of gastric outlet obstruction beyond infancy. Ramstedt pyloromyotomy remains the gold standard treatment for HPS. This type of HPS can be managed successfully with pyloromyotomy under laparoscopic or open procedures. Endoscopic pyloric balloon dilation (EPBD) has not been recommended in the treatment of HPS, and there are only a small number of reported cases who had had successful endoscopic pyloromyotomy (EP) for HPS only in infants...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27904971/mutations-in-slc5a6-associated-with-brain-immune-bone-and-intestinal-dysfunction-in-a-young-child
#3
Veedamali S Subramanian, Alexandru R Constantinescu, Paul J Benke, Hamid M Said
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and mediates biotin, pantothenic acid, and lipoate uptake in a variety of cellular systems. We report here the identification of mutations R94X, a premature termination, and R123L, a dysfunctional amino acid change, both in exon 3 of the SLC5A6 gene in a child using whole genome-scanning. At 15 months of age, the child showed failure to thrive, microcephaly and brain changes on MRI, cerebral palsy and developmental delay, variable immunodeficiency, and severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, and pathologic bone fractures...
November 30, 2016: Human Genetics
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#4
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27900972/failure-to-thrive-and-nephrocalcinosis-due-to-distal-renal-tubular-acidosis-a-rare-presentation-of-pediatric-lupus-nephritis
#5
Madhumita Nandi, Mrinal Kanti Das, Sukanta Nandi
A 9-year-old female child was initially diagnosed of having nephrocalcinosis with distal renal tubular acidosis (dRTA) while investigating for short stature. She later on developed features of nephrotic syndrome (NS) while on treatment for RTA. Investigation for the cause of NS revealed very strong serological evidence in favor of systemic lupus erythematosus (SLE). Histopathological confirmation could not be done due to bilateral severely contracted kidneys. There are a few case reports of dRTA as the presentation of SLE, but nephrocalcinosis with dRTA with subsequent manifestation of SLE has hitherto not been reported in literature...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27895952/severe-hiatal-hernia-as-a-cause-of-failure-to-thrive-discovered-by-transthoracic-echocardiogram
#6
Clint J Moore, Devan A Conley, Cristóbal S Berry-Cabán, Ryan P Flanagan
A newborn infant with failure to thrive presented for murmur evaluation on day of life three due to a harsh 3/6 murmur. During the evaluation, a retrocardiac fluid filled mass was seen by transthoracic echocardiogram. The infant was also found to have a ventricular septal defect and partial anomalous pulmonary venous return. Eventually, a large hiatal hernia was diagnosed on subsequent imaging. The infant ultimately underwent surgical repair of the hiatal hernia at a tertiary care facility. Hiatal hernias have been noted as incidental extracardiac findings in adults, but no previous literature has documented hiatal hernias as incidental findings in the pediatric population...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27895951/persistent-tachypnea-and-alveolar-hemorrhage-in-an-infant-an-unexpected-etiology
#7
John Bishara, Angela Webb, Christina Valsamis, Claudia Halaby, Melodi Pirzada
Persistent tachypnea and failure to thrive during infancy have a broad differential diagnosis which includes pulmonary and cardiovascular disorders. Diffuse alveolar hemorrhage (DAH) is a rare entity in children. DAH requires an extensive work-up as certain conditions may need chronic therapy. Cardiovascular disorders are included in the etiology of DAH. We present a case of an 8-month-old female with a moderate, restrictive patent ductus arteriosus (PDA) admitted to the hospital with respiratory distress and failure to thrive...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27894451/eczema-and-urticaria-as-manifestations-of-undiagnosed-and-rare-diseases
#8
REVIEW
Molly J Youssef, Yvonne E Chiu
Eczema and urticaria are common disorders encountered in pediatric patients, but they may occasionally be the presenting complaint in a child with an underlying rare disease. Immunodeficiency syndromes should be suspected when eczema is associated with neonatal onset, recurrent infections, chronic lymphadenopathy, or failure to thrive. Nutritional deficiencies and mycosis fungoides are in the differential diagnosis for a child with a recalcitrant eczematous eruption. Autoinflammatory syndromes should be suspected in a child with chronic urticaria, fever, and other systemic signs of inflammation...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27890981/neonatal-cholestasis-single-centre-experience-in-central-india
#9
Mayank Jain, Sagar Adkar, Chandrashekhar Waghmare, Jenisha Jain, Shikhar Jain, Kamna Jain, Gouri Rao Passi, Rashmi Shad Vinay, M K Soni
BACKGROUND: Neonatal cholestasis syndrome (NCS) is a major cause of morbidity and mortality in infants. The disorder has rarely been studied in centers from Central India. OBJECTIVES: To study the prevalence, clinical presentation and etiology of NCS at a tertiary referral center in Central India. MATERIALS AND METHODS: The study was carried out at a tertiary referral center in Central India. The study is a descriptive study. The records of all patients with suspected NCS treated in the Department of Pediatrics from 2007-2012 were analyzed...
October 2016: Indian Journal of Community Medicine
https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#10
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27878870/epidermolysis-bullosa-simplex-in-sibling-eurasier-dogs-is-caused-by-a-plec-non-sense-variant
#11
Elizabeth A Mauldin, Ping Wang, Thierry Olivry, Paula S Henthorn, Margret L Casal
BACKGROUND: Plectin, a large linker protein found in many tissues, acts to connect components of the cytoskeleton to each other. In the epidermis, plectin binds keratin intermediate filaments to hemidesmosomes. A deficiency of plectin in the skin leads to blister formation in the basal layer and the disease epidermolysis bullosa simplex (EBS). HYPOTHESIS/OBJECTIVES: To describe a novel blistering disease that arose spontaneously in a litter of puppies. ANIMALS: Two female and one male 20-day-old Eurasier puppies, from a litter of six, were presented for evaluation of failure to thrive and then euthanized due to poor prognosis...
November 7, 2016: Veterinary Dermatology
https://www.readbyqxmd.com/read/27875283/does-persistent-inflammatory-catabolic-syndrome-exist-in-critically-ill-neonates
#12
Nicole Ellis, Caitlin Hughes, Vera Mazurak, Chloe Joynt, Bodil Larsen
BACKGROUND: Persistent inflammatory catabolic syndrome (PICS) has not been described in the infant population. This study proposes a definition of PICS in critically ill infants. METHODS: A published adult criterion of PICS was modified using anthropometric and biochemical reference ranges for infants. A prospective chart review of admissions to a tertiary surgical neonatal intensive care unit (NICU) was performed over 65 days. Demographic, anthropometric, biochemical, and other clinical variables such as length of stay and medication use were collected daily throughout admission...
October 10, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/27872941/-supraglottoplasty-for-pediatric-laryngomalacia-results-from-71-cases
#13
D Di Dio, P Amrhein, A Koitschev, C Sittel
Laryngomalacia is the most common cause of stridor in infants. The stridor is caused by an inward collapse of supraglottic structures during inspiration resulting in an inspiratory stridor. The exact etiology still remains unclear. The surgical procedure of choice for laryngomalacia is supraglottoplasty. From 2009 to 2016 a total of 71 children were treated by supraglottoplasty in the department for pediatric otorhinolaryngology of the Stuttgart Hospital. The indications for supraglottoplasty were laryngomalacia with severe inspiratory stridor, oxygen desaturation, suprasternal or chest retraction, feeding difficulties and/or failure to thrive...
December 2016: HNO
https://www.readbyqxmd.com/read/27872228/child-neurology-diencephalic-syndrome-like-presentation-of-a-cervicomedullary-brainstem-tumor
#14
Melanie Conway, Resham Ejaz, Elizabeth Kouzmitcheva, Deena Savlov, James T Rutka, Mahendranath Moharir
Diencephalic syndrome is a rare clinical entity, traditionally encompassing severe failure to thrive, nystagmus, and hyperkinesis, secondary to an intracranial neoplasm that is classically located in the hypothalamic region and its vicinity. However, the presenting features can be variable, often resulting in delayed diagnosis, which may worsen prognosis. This case report describes the atypical presentation of a posterior fossa tumor with features reminiscent of diencephalic syndrome that have not previously been reported in the literature...
November 22, 2016: Neurology
https://www.readbyqxmd.com/read/27863728/fontan-patient-survival-after-pediatric-heart-transplantation-has-improved-in-the-current-era
#15
Kathleen E Simpson, Elizabeth Pruitt, James K Kirklin, David C Naftel, Rakesh K Singh, R Erik Edens, Aliessa P Barnes, Charles E Canter
BACKGROUND: Historically, patients with a prior Fontan procedure for complex congenital heart disease (CHD) have been considered at higher risk for death after heart transplant (HT) compared with other HT transplant candidates. With the overall trend of improved survival of pediatric HT recipients, it is unclear of Fontan patient post-HT survival has also improved in the current era. METHODS: Data from the Pediatric Heart Transplant Study database for Fontan patients who underwent HT was compared between the early era (1993 to 2006, n = 150) and late era (2007 to 2014, n = 252)...
November 15, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27863129/mechanisms-of-obesity-in-prader-willi-syndrome
#16
REVIEW
M J Khan, K Gerasimidis, C A Edwards, M G Shaikh
Obesity is the most common cause of metabolic complications and poor quality of life in Prader-Willi syndrome (PWS). Hyperphagia and obesity develop after an initial phase of poor feeding and failure to thrive. Several mechanisms for the aetiology of obesity in PWS are proposed, which include disruption in hypothalamic pathways of satiety control resulting in hyperphagia, aberration in hormones regulating food intake, reduced energy expenditure because of hypotonia and altered behaviour with features of autism spectrum disorder...
November 10, 2016: Pediatric Obesity
https://www.readbyqxmd.com/read/27862246/a-retrospective-analysis-of-mortality-in-captive-pygmy-hippopotamus-choeropsis-liberiensis-from-1912-to-2014
#17
Gabriella L Flacke, Suzana Tkalčić, Beatrice Steck, Kristin Warren, Graeme B Martin
The pygmy hippopotamus (Choeropsis liberiensis) is an IUCN Red List Endangered species (CITES Appendix II) that has been housed in zoological collections since 1912. As wild populations continue to decline throughout the species' range, successful ex situ breeding and management, including an understanding of morbidity and mortality, are of utmost importance. This study is the first comprehensive review of mortality data from the captive population since 1982 and significantly expands on previous analyses. We solicited necropsy reports from 129/187 zoological institutions worldwide that currently or previously held pygmy hippos and received data for 404 animals (177 ♂, 220 ♀, 7 undermined sex), representing 43% of pygmy hippos that have died in captivity...
November 2016: Zoo Biology
https://www.readbyqxmd.com/read/27860360/homozygous-variants-in-pyrroline-5-carboxylate-reductase-2-pycr2-in-patients-with-progressive-microcephaly-and-hypomyelinating-leukodystrophy
#18
Linyan Meng, Taraka Donti, Fan Xia, Zhiyv Niu, Aisha Al Shamsi, Jozef Hertecant, Fatma Al-Jasmi, James B Gibson, Honey Nagakura, Jing Zhang, Weimin He, Christine Eng, Yaping Yang, Sarah H Elsea
Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420). Here, we report five additional patients from three families with homozygous nonsense or missense variants in PYCR2, identified through clinical exome sequencing. All patients presented with postnatally acquired microcephaly, moderate to profound global developmental delay, and failure to thrive...
November 11, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27829683/biochemical-and-molecular-characteristics-of-citrin-deficiency-in-korean-children
#19
Seak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Kyung Mo Kim, Han-Wook Yoo
Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2). The purpose of this study was to determine the mutation spectrum and the clinical and biochemical characteristics of citrin deficiency in Korean patients. Thirty-four patients were diagnosed with citrin deficiency based on mutations in SLC25A13, as verified by direct sequencing and long PCR screening of a large transposon insertion...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27798933/a-pediatric-patient-with-a-cyp24a1-mutation-four-years-of-clinical-biochemical-and-imaging-follow-up
#20
Diana-Alexandra Ertl, Adalbert Raimann, Dagmar Csaicsich, Janina M Patsch, Franco Laccone, Gabriele Haeusler
BACKGROUND: A female infant was admitted to hospital due to failure to thrive. She presented hypercalcemia (4.09 mmol/L, normal range: 2.2-2.65 mmol/L), high 25-hydroxyvitamin D (283 nmol/L, normal range: 75-250 nmol/L), 1,25-dihydroxyvitamin D in the upper normal range, and low parathyroid hormone. Vitamin D intoxication was suspected. The patient had received routine rickets prophylaxis. METHODS: Williams-Beuren syndrome was genetically excluded. Sequencing of CYP24A1 showed 2 mutations: c...
November 1, 2016: Hormone Research in Pædiatrics
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