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https://www.readbyqxmd.com/read/28721077/food-protein-induced-enterocolitis-syndrome-a-review-of-the-literature-with-focus-on-clinical-management
#1
REVIEW
Marine Michelet, Dominique Schluckebier, Laetitia-Marie Petit, Jean-Christoph Caubet
Food protein-induced enterocolitis syndrome (FPIES) is a potentially severe presentation of non-IgE-mediated gastrointestinal food allergy (non-IgE-GI-FA) with heterogeneous clinical manifestations. Acute FPIES is typically characterized by profuse vomiting and lethargy, occurring classically 1-4 hours after ingestion of the offending food. When continuously exposed to the incriminated food, a chronic form has been described with persistent vomiting, diarrhea, and/or failure to thrive. Although affecting mainly infants, FPIES has also been described in adults...
2017: Journal of Asthma and Allergy
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#2
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28716867/syndromic-congenital-diarrhoea-new-spint2-mutation-identified-in-the-uae
#3
Solange Bou Chaaya, Julian D Eason, Bibian N Ofoegbu
We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon...
July 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28699796/utilization-and-safety-of-proton-pump-inhibitors-and-histamine-2-receptor-antagonists-in-children-and-adolescents-an-observational-cohort-study
#4
A Ruigómez, S Johansson, P Nagy, L A García Rodríguez
Background-Little is known about the use of acid-suppressing treatments and related safety events in children. Objective-We compared patient characteristics and safety outcomes among children prescribed acid-suppressing drugs for the first time. Methods-We used The Health Improvement Network to determine the characteristics of children prescribed a proton pump inhibitor (PPI; esomeprazole or another PPI) or a histamine-2 receptor antagonist (H2RA) by UK primary care physicians between October 2009 and September 2012...
July 12, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28698024/the-prevalence-and-characteristics-of-cow-s-milk-protein-allergy-in-infants-and-young-children-with-iron-deficiency-anemia
#5
Fu-Ping Lai, Yao-Jong Yang
BACKGROUND: The clinical presentation of cow's milk protein allergy (CMPA) in children varies. This retrospective study aimed to investigate the prevalence and clinical manifestations of CMPA in young children who visited for evaluation of iron deficiency anemia (IDA). METHODS: Patients aged <4 years who were diagnosed as having IDA (serum ferritin <12 ng/mL) at the National Cheng Kung University Hospital, Taiwan in the period 2005-2015 were reviewed. Their clinical presentations, laboratory data, endoscopy findings, and prognosis were analyzed...
June 30, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28687692/diencephalic-syndrome-a-rare-cause-of-failure-to-thrive
#6
Mustafa Tosur, Anca Tomsa, David L Paul
Timely diagnosis of diencephalic syndrome is not often the case for patients presenting with failure to thrive (FTT) because of its rarity and lack of specific symptoms. Herein, we report two cases of diencephalic syndrome (2-year-old girl and 10-month-old boy) presenting with severe emaciation. Both patients had histories of poor weight gain for months despite having good appetites prior to diagnosis. Initial work-up did not reveal the diagnosis. Horizontal nystagmus was noted in both patients: by a neurologist in the first patient and by a family member in the second patient...
July 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28685844/genetic-characterization-of-gsd-i-in-serbian-population-revealed-unexpectedly-high-incidence-of-gsd-ib-and-three-novel-slc37a4-variants
#7
Anita Skakic, Maja Djordjevic, Adrijan Sarajlija, Kristel Klaassen, Natasa Tosic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic, Maja Stojiljkovic
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. In five patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births respectively. Two variants were identified in G6PC gene: c...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28676232/mhc-class-ii-deficiency-report-of-a-novel-mutation-and-special-review
#8
REVIEW
S Farrokhi, M Shabani, Z Aryan, S Zoghi, A Krolo, K Boztug, N Rezaei
The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous...
July 1, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28673863/mpv17-hepatocerebral-mitochondrial-dna-depletion-syndrome-presenting-as-acute-flaccid-paralysis-a-case-report
#9
Anjan Pyal, Arumugam Paramasivam, Angamuthu Kannan Meena, Velpula Bhagya Bhavana, Kumarasamy Thangaraj
Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. We describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive weakness of all 4 limbs with symmetrical proximal and distal weakness, gastrointestinal disease and leukoencephalopathy. Genetic analysis of the patient revealed a homozygous pathogenic mutation c...
June 30, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28668235/severe-hypotonia-and-postnatal-growth-impairment-in-a-girl-with-a-missense-mutation-in-col1a1-implication-of-expanded-phenotypic-spectrum-of-type-i-collagenopathy
#10
Jin Sook Lee, Jieun Seo, Anna Cho, Byung Chan Lim, Murim Choi, Jung-Wook Kim, Ok-Hwa Kim, Tae-Joon Cho, Jong-Hee Chae
BACKGROUND: It is known that type I collagenopathy has a broad-spectrum phenotypic variability. Here, we report a case of a Korean girl with a heterozygous COL1A1 mutation who had an atypical presentation. CASE PRESENTATION: A 26-month-old girl presented with delayed motor development and failure to thrive. She had severe growth retardation. She exhibited right-sided plagiocephaly, blue sclerae, and facial dysmorphism, including a small pointed chin, frontal bossing, and a triangular face, but had microcephaly...
June 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#11
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28628471/haematological-involvement-associated-with-a-mild-autoinflammatory-phenotype-in-two-patients-carrying-the-e250k-mutation-of-pstpip1
#12
Elena Belelli, Chiara Passarelli, Manuela Pardeo, Dirk Holzinger, Fabrizio De Benedetti, Antonella Insalaco
OBJECTIVES: Hyperzincaemia/hypercalprotectinemia (Hz/Hc) syndrome is a recently described condition caused by a specific de novo mutation (E250K) affecting PSTPIP1 gene. It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and failure to thrive. METHODS: We describe an 8-year-old boy who presented recurrent right knee swelling mimicking septic arthritis and persistent bone marrow involvement, without cutaneous involvement...
June 19, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#13
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28622416/rosacea-and-demodicidosis-associated-with-gain-of-function-mutation-in-stat1
#14
Julie Second, Anne-Sophie Korganow, Sarah Jannier, Anne Puel, Dan Lipsker
We report a family in which 3 of 5 children as well as the mother, had a gain-of-function (GOF) mutation in the signal transducer and activator of transcription (STAT1) associated with early-onset rosacea and demodicidosis. The proband case (Fig. 1) was a 13-year-old boy of non-consanguineous parents, known for a hypothyroidism, failure to thrive and chronic mucocutaneous candidiasis (CMC) since he was 5-6 years old. On examination, he had medio-facial erythema with telangiectasia, as well as sometimes pruritic papulopustular lesions of the face and neck...
June 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#15
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28616421/cystic-fibrosis-prevalence-among-a-group-of-high-risk-children-in-the-main-referral-children-hospital-in-iran
#16
Mohammad Reza Modaresi, Jamal Faghinia, Mohsen Reisi, Majid Keivanfar, Shiva Navaie, Javad Seyyedi, Faride Baharzade
BACKGROUND: Knowledge about cystic fibrosis (CF) in Iran is very limited. The objective of this study was to determine the prevalence of CF among a group of high-risk children with suggestive clinical features in the main referral hospital in Iran. MATERIALS AND METHODS: This study children consisted of 505 patients who had presented with one or more of the following symptoms: chronic or recurrent respiratory symptoms, gastrointestinal symptoms as rectal prolapse, steatorrhea, hepatobiliary disease as prolonged jaundice, failure to thrive, hyperglycemia and glycosuria, hypochloremic metabolic alkalosis, hypoprothrombinemia, anemia or edema, and positive family history of CF...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28611957/genetic-virulence-profile-of-enteroaggregative-escherichia-coli-strains-isolated-from-danish-children-with-either-acute-or-persistent-diarrhea
#17
Betina Hebbelstrup Jensen, Anja Poulsen, Stig Hebbelstrup Rye Rasmussen, Carsten Struve, Jørgen H Engberg, Alice Friis-Møller, Nadia Boisen, Rie Jønsson, Randi F Petersen, Andreas M Petersen, Karen A Krogfelt
Enteroaggregative Escherichia coli (EAEC) is frequently found in diarrheal stools worldwide. It has been associated with persistent diarrhea, weight loss, and failure to thrive in children living in developing countries. A number of important EAEC virulence genes are identified; however, their roles in acute and persistent diarrhea have not been previously investigated. The aim of this study was to identify specific EAEC virulence genes associated with duration and type of diarrhea in Danish children. We aimed to improve the current diagnostics of EAEC and enable targeting of strains with an expected severe disease course...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28604215/faltering-growth
#18
REVIEW
Erin Dean
Essential facts Faltering growth, previously called failure to thrive, refers to a slower rate of weight gain in childhood than expected for age and sex. While newborns normally lose weight in the first days of life, persisting or large weight losses can cause concern.
June 12, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28596252/success-in-bone-marrow-failure-novel-therapeutic-directions-based-on-the-immune-environment-of-myelodysplastic-syndromes
#19
REVIEW
Alyssa H Cull, Michael J Rauh
Myelodysplastic syndromes (MDS) are clonal neoplasms of aging that are associated with BM failure, related cytopenias, fatigue, susceptibility to infections, bruising, bleeding, a shortened lifespan, and a propensity for leukemic transformation. Most frail, elderly patients are not candidates for curative allogeneic BM transplantations and instead receive expectant management, supportive blood transfusions, or empirical, nontargeted therapy. It has been known for some time that MDS arises in an abnormal BM immune environment; however, connections have only recently been established with recurring MDS-associated mutations...
June 8, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28588851/identification-of-epcam-mutation-clinical-use-of-microarray
#20
Queenie K-G Tan, Diana M Cardona, Catherine W Rehder, Marie T McDonald
We report a case of an infant with congenital tufting enteropathy (CTE) who presented with severe failure to thrive despite multiple interventions. This study illustrates that CTE may be missed by endoscopy, and the use of chromosomal microarray and immunohistological analysis may be integral to diagnosis.
June 2017: Clinical Case Reports
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