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https://www.readbyqxmd.com/read/28060111/frequent-infections-hypotonia-and-anemia-in-a-breastfed-infant
#1
Fatma Kamoun, Rime Guirat, Fatma Megdich, Salma Ben Ameur, Choumous Kallel, Mongia Hachicha
Vitamin B12 deficiency may be responsible of serious hematologic and neurodevelopmental abnormalities. We report the case of an infant who was hospitalized because of recurrent infections, failure to thrive, hypotonia, and weakness. He was 8 months old and had been exclusively breastfed. Blood cell count showed pancytopenia with megaloblastic bone marrow. The serum IgG concentration was low. Vitamin B12 level was very low and associated with increased urinary methylmalonic acid. Cobalamin deficiency was caused by mother's unrecognized pernicious anemia...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28057771/timing-is-everything-recurrent-infections-and-failure-to-thrive-in-an-infant
#2
Amy M DeLaroche, Nirupama Kannikeswaran, Helene Tigchelaar
No abstract text is available yet for this article.
January 5, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28057010/update-on-lysinuric-protein-intolerance-a-multi-faceted-disease-retrospective-cohort-analysis-from-birth-to-adulthood
#3
Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche, Jean-Paul Bonnefont, Chris Ottolenghi, Jacques de Blic, Jean-Baptiste Arnoux, Pascale de Lonlay
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y(+)LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28055329/percutaneous-transhepatic-fontan-kreutzer-completion-of-hepatic-vein-inclusion
#4
Ignacio Juaneda, Alejandro Peirone, Adolfo Ferrero Guadagnoli, Alejandro Contreras, Santiago Orozco, Juan Diaz, Christian Kreutzer
We report the case of an 11-year-old girl with heterotaxy syndrome, dextrocardia, and azygos continuation of an interrupted inferior vena cava who had developed pulmonary arteriovenous fistulas after a Kawashima procedure consisting of bilateral superior cavopulmonary anastomoses. She presented with profound cyanosis, fatigue, and failure to thrive. An operative procedure to direct hepatic vein effluent to the pulmonary circulation was performed with placement of an extracardiac conduit between the hepatic veins and the left pulmonary artery...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28043486/tuberculosis-in-children
#5
Ali Akbar Velayati
Tuberculosis (TB) is the main cause of infection-related death in the world. Children make up ∼5-15% of all TB cases. Severe forms of disease such as meningitis and disseminated form are more common in children. Due to current estimates of World Health Organization (WHO) in 2015, one million children suffer from TB around the world; of these, it is estimated that more than 136,000 die a year. One study estimated 67million children with latent TB which develops to active form with the rate of ∼850,000 each year...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28041799/eif2b-related-multisystem-disorder-in-two-sisters-with-atypical-presentations
#6
Jin Sook Lee, Sangmoon Lee, Murim Choi, Byung Chan Lim, Jieun Choi, Ki Joong Kim, Jung-Eun Cheon, In-One Kim, Jong-Hee Chae
BACKGROUND: Vanishing white matter disease (VWM) is a chronic progressive leukoencephalopathy that is characterized by cerebellar ataxia and spasticity, together with cystic degeneration of the cerebral white matter as evidenced by brain magnetic resonance imaging (MRI). Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy. CASE PRESENTATION: The index case had a history of hepatomegaly and intermittent vomiting after upper respiratory infection at 11 months of age...
July 18, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28027184/piezosurgery-an-asset-in-treatment-of-pierre-robin-sequence
#7
Divya Singh, Pushkar Gadre, Kiran Gadre, Shandilya Ramanojam
Pierre Robin sequence (formerly a syndrome) is named after the French stomatologist who, in 1923 and 1934, described the problems associated with micrognathia in newborn. It comprises mandibular micrognathia, U-shaped cleft palate, and glossoptosis. The typical symptoms are hypoxaemia, noisy breathing, snoring, stridor, cyanosis, bradycardia, feeding difficulties, and failure to thrive. Distraction osteogenesis has recently been considered as a surgical option for early intervention to lengthen the mandible and relieve respiratory problems...
December 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28027064/novel-pathogenic-variant-in-the-hras-gene-with-lethal-outcome-and-a-broad-phenotypic-spectrum-among-polish-patients-with-costello-syndrome
#8
Magdalena Pelc, Elżbieta Ciara, Aleksandra Jezela-Stanek, Monika Kugaudo, Agata Cieślikowska, Dorota Jurkiewicz, Magdalena Janeczko, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Agata Skórka
Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype. A molecular test showed two known heterozygous mutations in the first coding exon of the gene in seven patients: p...
December 23, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28004474/gastrointestinal-dysmotility-and-pancreatic-insufficiency-in-2-siblings-with-donohue-syndrome
#9
Eirini Kostopoulou, Pratik Shah, Noman Ahmad, Robert Semple, Khalid Hussain
Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria. We report 2 siblings with Donohue syndrome (cases 1, 2) with multiple clinical and biochemical characteristics. Both patients shared the same mutation and presented with intra-uterine growth restriction, failure to thrive, fasting hyperinsulinaemic hypoglycaemia and episodic post-prandial hyperglycaemia...
December 22, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27999436/food-allergy-and-the-gut
#10
REVIEW
Anna Nowak-Wegrzyn, Hania Szajewska, Gideon Lack
Food allergy develops as a consequence of a failure in oral tolerance, which is a default immune response by the gut-associated lymphoid tissues to ingested antigens that is modified by the gut microbiota. Food allergy is classified on the basis of the involvement of IgE antibodies in allergic pathophysiology, either as classic IgE, mixed pathophysiology or non-IgE-mediated food allergy. Gastrointestinal manifestations of food allergy include emesis, nausea, diarrhoea, abdominal pain, dysphagia, food impaction, protein-losing enteropathy and failure to thrive...
December 21, 2016: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#11
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27967296/new-jag1-mutation-causing-alagille-syndrome-presenting-with-severe-hypercholesterolemia-case-report-with-emphasis-on-genetics-and-lipid-abnormalities
#12
Zeina C Hannoush, Herminia Puerta, Mislen S Bauer, Ronald B Goldberg
CONTEXT: Alagille syndrome is a rare autosomal dominant genetic disorder caused by defects in the Notch signaling pathway that involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia. CASE DESCRIPTION: We report the case of a male infant who at one year of age had developed failure to thrive, jaundice, intermittent pruritus and multiple diffuse symmetrical skin xanthomas...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27956071/solution-blow-spun-polymer-a-novel-preclinical-surgical-sealant-for-bowel-anastomoses
#13
Nora G Kern, Adam M Behrens, Priya Srinivasan, Christopher T Rossi, John L Daristotle, Peter Kofinas, Anthony D Sandler
BACKGROUND: Solution blow spinning is a technique for depositing polymer fibers with promising potential use as a surgical sealant. This study assessed the feasibility and efficacy of solution blow spun polymer (BSP) for sealing bowel perforations in a mouse model of partial cecal transection. We then evaluated its use for reinforcing a surgical anastomosis in a preclinical piglet model. METHODS: Three commercially available surgical sealants (fibrin glue, polyethylene glycol (PEG) hydrogel, and cyanoacrylate) were compared to BSP in the ability to seal partially transected cecum in mice...
December 5, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27941193/comparison-of-72-hour-fecal-fat-quantification-and-the-13c-mixed-triglyceride-breath-test-in-assessing-pancreatic-exocrine-sufficiency-in-children-with-chronic-pancreatitis
#14
Karolina Wejnarska, Elwira Kołodziejczyk, Józef Ryżko, Grzegorz Oracz
INTRODUCTION: Chronic pancreatitis (CP) in children is still a rare, although increasingly recognized entity. Over the duration of the disease several complications can be observed, two of which are major ones: endo- and exocrine insufficiency. In the medical care of children with CP it is crucial to diagnose the decreased endo- and exocrine function of the pancreas, in order to preserve patients from malnutrition and the failure to thrive. The aim of the study was to compare the usefulness of two indirect methods of assessing the pancreas exocrine function in children with CP...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27938595/-two-cases-with-generalized-intracranial-calcification-due-to-hereditary-folate-malabsorption-and-literature-review
#15
Y Zhang, Q Wang, D X Li, Y P Liu, J Q Song, M Q Li, Y P Qin, Y L Yang
Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary folate malabsorption. Method: Clinical features, laboratory examinations, treatment and SLC46A1 gene of two cases were studied. Reports on hereditary folate malabsorption utill September of 2016 were searched and the clinical and genetic characteristics of reported cases were summarized. Result: The two patients presented with megaloblastic anemia from their infant period and seizures, psychomotor retardation and regression...
December 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27932596/infantile-lhermitte-duclos-disease-treated-successfully-with-rapamycin
#16
Megan Zak, Mark Ledbetter, Paul Maertens
Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants. Rapamycin treatment has not yet been described in Lhermitte-Duclos disease. The infant underwent shunt placement shortly after birth for aqueductal stenosis. Her clinical progression included failure to thrive, seizures, episodes of decerebrate posturing, loss of respiratory drive, and pituitary insufficiency from mass effect...
December 8, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27916444/influence-of-weight-at-enterostomy-reversal-on-surgical-outcomes-in-infants-after-emergent-neonatal-stoma-creation
#17
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
#18
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
#19
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
#20
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
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