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Failure to thrive

Christian Brigolin, Nathan McKenty, Kirit Pindolia, Barry Wolf
Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities. Untreated individuals with biotinidase deficiency cannot recycle biotin from biocytin (N-biotinyl-ϵ-lysine), the proteolytic digestion product of protein-bound biotin. Biotin therapy can markedly resolve symptoms, or can prevent the development of symptoms if initiated early. To understand better the pathogenesis of the neurological problems in the disorder in humans, we have compared gene transcription changes during the first week post-birth in the brains of biotinidase-deficient, transgenic, knock-out mice at days 1 and 8 and compared to changes in wildtype mice at the same times...
December 2016: Molecular Genetics and Metabolism Reports
Glenwood Goss, Chun-Ming Tsai, Frances A Shepherd, Lyudmila Bazhenova, Jong Seok Lee, Gee-Chen Chang, Lucio Crino, Miyako Satouchi, Quincy Chu, Toyoaki Hida, Ji-Youn Han, Oscar Juan, Frank Dunphy, Makoto Nishio, Jin-Hyoung Kang, Margarita Majem, Helen Mann, Mireille Cantarini, Serban Ghiorghiu, Tetsuya Mitsudomi
BACKGROUND: Osimertinib (AZD9291) is an oral, potent, irreversible EGFR tyrosine-kinase inhibitor selective for EGFR tyrosine-kinase inhibitor sensitising mutations, and the EGFR Thr790Met resistance mutation. We assessed the efficacy and safety of osimertinib in patients with EGFR Thr790Met-positive non-small-cell lung cancer (NSCLC), who had progressed after previous therapy with an approved EGFR tyrosine-kinase inhibitor. METHODS: In this phase 2, open-label, single-arm study (AURA2), patients aged at least 18 years with centrally confirmed EGFR Thr790Met-positive mutations, locally advanced or metastatic (stage IIIB/IV) NSCLC who progressed on previous EGFR tyrosine-kinase inhibitor therapy received osimertinib 80 mg orally once daily; treatment could continue beyond progression if the investigator observed a clinical benefit...
October 14, 2016: Lancet Oncology
Li-Li Huang, Fei Xiong, Fan Yang
OBJECTIVE: To study the effect of breast milk composition on weight growth velocity of infants fed with exclusive breast milk. METHODS: One hundred and thirty-eight full-term singleton infants who received regular follow-up visits and fed with exclusive breast milk and their mothers were recruited. Body height, weight and head circumference of these infants were measured at regular visits. Z scores were used to evaluate growth velocity. The subjects were classified into a failure to thrive group (ΔZ scores≤-0...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
J Caltagirone, A Dupont, M Afanetti, E Gondon, D Dupont
The vitamin B12 reserves of newborns are dependent on transplacental transfer and secondarily on food intake. This vitamin is involved in hematopoiesis and in neurological development. We report the case of a severe vitamin B12 deficiency in a 7-month-old infant. A neurological evaluation performed at 5 months of age for psychomotor regression found nonspecific cortical atrophy. The infant was hospitalized for impaired general condition and worsening of neurological symptoms. Examinations revealed bicytopenia with normocytic anemia (Hb: 7...
October 12, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Nuo Wang, Nuan Wu, Ling-Ling Dong, Hua-Kun Yan, Di Wu
Whether they thrive as they grow must be determined for all constantly expanding networks. However, few studies have focused on this important network feature or the development of quantitative analytical methods. Given the formation and growth of the global container-shipping network, we proposed the concept of network temporal robustness and quantitative method. As an example, we collected container liner companies' data at two time points (2004 and 2014) and built a shipping network with ports as nodes and routes as links...
October 7, 2016: Scientific Reports
Annie T G Chiu, Lixing Zhu, Gary T K Mok, Gordon K C Leung, C B Chow, Brian H Y Chung
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome. It was only with optimization of his nutritional status that dysmorphic features became more apparent, which affirmed the molecular diagnosis of Costello syndrome from exome sequencing...
October 2, 2016: European Journal of Medical Genetics
Seyed Abdollah Mousavi, Hasan Karami, Hossein Saneian
INTRODUCTION: The duodenum is the most common site for congenital intestinal obstruction. The duodenal web with a central hole can present without any overt signs of obstruction at a later age. MATERIAL AND METHODS: Over a 7-year period, children with congenital intestinal obstruction were identified in this study. The complications and operative findings of patients with duodenal web with conditions such as wind sock deformity and delayed diagnosis were evaluated in this study...
October 1, 2016: Archives of Medical Science: AMS
Shahrzad Bakhtiar, Frank Ruemmele, Fabienne Charbit-Henrion, Eva Lévy, Frédéric Rieux-Laucat, Nadine Cerf-Bensussan, Peter Bader, Ulrich Paetow
Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type 1 diabetes mellitus, hypothyroidism, adrenal insufficiency, and vitiligo. Lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation...
2016: Frontiers in Pediatrics
Özmert Ma Özdemir, Ceren Çıralı, Sebahat Yılmaz Ağladıoğlu, Havva Evrengül, Emre Tepeli, Hacer Ergin
Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Ryan E Lamont, Chandree L Beaulieu, Francois P Bernier, Rebecca Sparkes, A Micheil Innes, Candice Jackel-Cram, Carole Ober, Jillian S Parboosingh, Edmond G Lemire
Leigh disease is a progressive, infantile-onset, neurodegenerative disorder characterized by feeding difficulties, failure to thrive, hypotonia, seizures, and central respiratory compromise. Metabolic and neuroimaging investigations typically identify abnormalities consistent with a disorder of mitochondrial energy metabolism. Mutations in more than 35 genes affecting the mitochondrial respiratory chain encoded from both the nuclear and mitochondrial genomes have been associated with Leigh disease. The clinical presentations of five individuals of Hutterite descent with Leigh disease are described herein...
September 27, 2016: American Journal of Medical Genetics. Part A
Ethan Charles Blocher-Smith, David A Smith
INTRODUCTION: Stomach dehiscence from the abdominal wall is a serious and potentially life-threatening complication of gastrostomy tube changes. This retrospective study evaluates gastric aspiration as an inexpensive and safe alternative to endoscopic or radiographic confirmation. METHODS: From August 1998 to June 2016, 682 patients (301 female, 381 male) underwent 1713 gastrostomy tube changes in the medical setting, with an average age of 7.59years and an average site age of 3...
September 14, 2016: Journal of Pediatric Surgery
Chun Chen, Rui Zhou, Yanlan Fang, Liqiong Jiang, Li Liang, Chunlin Wang
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder in which the adrenal cortex fails to respond appropriately to stimulation by adrenocorticotropic hormone (ACTH) to produce cortisol. The disease is characterized in laboratory testing by glucocorticoid deficiency and markedly elevated ACTH levels. FGD may present in infancy or early childhood with symptoms related to low cortisol and high ACTH, such as hyperpigmentation, severe hypoglycemia, failure to thrive and recurrent infections...
December 2016: Molecular Genetics and Metabolism Reports
C Galeotti, S Georgin-Lavialle, G Sarrabay, I Touitou, I Koné-Paut
Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum which extends from the mild phenotype of the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) to a lethal form of mevalonic aciduria. The HIDS is characterized by recurrent episodes of fever with an intense inflammatory syndrome, accompanied with lymphadenopathy, abdominal pain, diarrhea, arthralgia, hepatomegaly, splenomegaly and skin rash...
September 19, 2016: La Revue de Médecine Interne
Małgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Taila Hartley, Kym M Boycott
Aminoacyl-tRNA synthetases (ARSs) are a group of ubiquitously expressed enzymes that are best known for their function in the first step of protein translation but have been increasingly associated with secondary functions including transcription and translation control and extracellular signaling. Mutations in numerous ARSs have been linked to a growing number of both autosomal dominant and autosomal recessive human diseases. The tyrosyl-tRNA synthetase (YARS) links the amino acid tyrosine to its cognate tRNA...
September 15, 2016: American Journal of Medical Genetics. Part A
Gary Yip, Martha Henao, Lynn L Huang
PURPOSE: To report a diagnosis of spinocerebellar ataxia Type 7 (SCA-7) first diagnosed in the daughter followed by the father, with proven genetic testing and display of progressive anticipation of disease penetrance. METHODS: A 5-year-old African American female admitted for failure to thrive underwent full ocular examination and fundus photography, with genetic confirmation of SCA-7. The father carried a previous diagnosis of possible solar retinopathy; however, with further genetic testing, he was also found to have SCA-7...
September 14, 2016: Retinal Cases & Brief Reports
Silvia Caimmi, Amelia Licari, Davide Caimmi, Anna Rispoli, Eugenio Baraldi, Fiorella Calabrese, Gian Luigi Marseglia
BACKGROUND: Childhood interstitial lung disease (chILD) is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality. Neuroendocrine cell hyperplasia (NEHI) is a unique sub-group, which is more prevalent in infants and children younger than 2 years of age, and typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive. NEHI insidiously appears in the first year of life, subtly masquerading as one of the more common lung diseases of childhood...
September 15, 2016: Italian Journal of Pediatrics
He-Xiao Wang, Yang Yang, Hao Guo, Dian-Dong Hou, Song Zheng, Yu-Xiao Hong, Yun-Fei Cai, Wei Huo, Rui-Qun Qi, Li Zhang, Hong-Duo Chen, Xing-Hua Gao
Hyperthermia has shown clinical potency as a single agent or as adjuvant to other therapies in cancer treatment. However, thermotolerance induced by thermosensitive genes such as the heat shock proteins can limit the efficacy of hyperthermic treatment. In the present study, we identified HSPB1 (HSP27) is hyperthermically inducible or endogenously highly expressed in both murine and human melanoma cell lines. We used a siRNA strategy to reduce HSPB1 levels and showed increased intolerance to hyperthermia via reduced cell viability and/or proliferation of cells...
September 8, 2016: Oncotarget
Jane Jackie David, Smilu Mohanlal, Punam Sankhe, Radha Ghildiyal
We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen...
September 2016: Lung India: Official Organ of Indian Chest Society
Yves Wyss, Daniel Quandt, Roland Weber, Brian Stiasny, Benedikt Weber, Walter Knirsch, Oliver Kretschmar
AIMS: This study set out to assess indications, feasibility, complications, and clinical outcome of percutaneous transcatheter device closure of atrial septal defects (ASDs) in infants with a bodyweight below 10 kg. METHODS AND RESULTS: Retrospective single center chart and echocardiography review study from 8/2005-12/2013. Twenty-eight children with ASD (13 female) with a median age of 1.15 years (0.2-2.8) and a median weight of 7.2 kg (4.5-9.9) were analyzed...
September 13, 2016: Journal of Interventional Cardiology
Rachel L Bounds, Joseph Kuebler, Jill M Cholette, George M Alfieris, Sitaram M Emani, Carol A Wittlieb-Weber
A 2-month-old male with dysmorphic facies, neonatal thrombocytopenia, left congenital cataract, and long bone abnormalities became hypotensive with ST depression on induction of anesthesia for congenital cataract repair. Echocardiogram demonstrated decreased left ventricular function (ejection fraction 46%), mild mitral valve regurgitation (MR), and regional wall motion abnormalities. The left coronary artery could not be visualized. Subsequent cardiac catheterization confirmed atresia of the left main coronary artery...
September 12, 2016: World Journal for Pediatric & Congenital Heart Surgery
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