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Failure to thrive

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https://www.readbyqxmd.com/read/28628471/haematological-involvement-associated-with-a-mild-autoinflammatory-phenotype-in-two-patients-carrying-the-e250k-mutation-of-pstpip1
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28588434/maternal-uniparental-disomy-14-temple-syndrome-as-a-result-of-a-robertsonian-translocation
#10
Veronica Bertini, Antonella Fogli, Rossella Bruno, Alessia Azzarà, Angela Michelucci, Teresa Mattina, Silvano Bertelloni, Angelo Valetto
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28587747/flexible-endoscopic-diagnosis-and-treatment-of-esophageal-stenosis-in-children-with-noninvasive-ventilation-support
#11
Kao-Hsian Hsieh, Wen-Jue Soong, Mei-Jy Jeng, Yu-Sheng Lee, Pei-Chen Tsao, Ya-Ling Chou
BACKGROUND: Esophageal stenosis (ES) is characterized by dysphagia, failure to thrive, and long-term disability. It requires repeated management because it is refractory. Traditionally, these procedures are performed under general anesthesia with airway intubation. PURPOSE: This study investigated the safety and efficacy of the management of interventional flexible endoscopy (IFE) performed with a novel noninvasive ventilation (NIV) support. METHODS: Use of a short-length flexible endoscope with NIV of pharyngeal oxygen, nose closure, and abdominal compression during IFE was investigated...
May 10, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28583535/liver-transplantation-for-mitochondrial-respiratory-chain-disorder-a%C3%A2-single-center-experience-and-excellent-marker-of-differential-diagnosis
#12
K Sasaki, S Sakamoto, H Uchida, S Narumoto, T Shigeta, A Fukuda, R Ito, R Irie, T Yoshioka, K Murayama, M Kasahara
Mitochondrial respiratory chain disorder (MRCD) can cause liver failure requiring liver transplantation (LT), although it is often difficult to diagnose before LT. From 2005 to 2016, 9 MRCD patients with the median age at LT of 6 months underwent LT in our institute. Their clinical courses were retrospectively reviewed and the laboratory parameters were compared between the MRCD patients and 10 patients with acute liver failure unrelated to MRCD (non-MRCD). Five patients had extrahepatic manifestations, including developmental disorders in 3 and failure to thrive in 3, before LT...
June 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28572090/gdf15-is-a-heart-derived-hormone-that-regulates-body-growth
#13
Ting Wang, Jian Liu, Caitlin McDonald, Katherine Lupino, Xiandun Zhai, Benjamin J Wilkins, Hakon Hakonarson, Liming Pei
The endocrine system is crucial for maintaining whole-body homeostasis. Little is known regarding endocrine hormones secreted by the heart other than atrial/brain natriuretic peptides discovered over 30 years ago. Here, we identify growth differentiation factor 15 (GDF15) as a heart-derived hormone that regulates body growth. We show that pediatric heart disease induces GDF15 synthesis and secretion by cardiomyocytes. Circulating GDF15 in turn acts on the liver to inhibit growth hormone (GH) signaling and body growth...
June 1, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28568353/prevention-of-complications-in-glycogen-storage-disease-type-ia-with-optimization-of-metabolic-control
#14
REVIEW
M Dambska, E B Labrador, C L Kuo, D A Weinstein
Prior to 1971, type Ia glycogen storage disease was marked by life-threatening hypoglycemia, lactic acidosis, severe failure to thrive, and developmental delay. With the introduction of continuous feeds in the 1970s and cornstarch in the 1980s, the prognosis improved, but complications almost universally developed. Changes in the management of type Ia glycogen storage disease have resulted in improved metabolic control, and this manuscript reviews the increasing evidence that complications can be delayed or prevented with optimal metabolic control as previously was seen in diabetes...
June 1, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28557682/an-infant-presenting-with-failure-to-thrive-and-hyperkalaemia-owing-to-transient-pseudohypoaldosteronism-case-report
#15
Marieke De Clerck, Johan Vande Walle, Evelyn Dhont, Joke Dehoorne, Werner Keenswijk
A 3-month-old boy presented with failure to thrive and a history of a prenatally detected unilateral hydroureteronephrosis which was confirmed after birth. His growth and developmental milestones had been normal during the first 2 months but in the third month his appetite was poor with reduced intake but no vomiting. At presentation, his temperature was normal, there was mild dehydration and there was weight loss (his weight had decreased by 270 g in the past month). Haemoglobin was 11.9 g/dL, total white cell count 20...
May 30, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28554931/developing-a-core-outcome-set-for-infant-colic-for-primary-secondary-and-tertiary-care-settings-a-prospective-study
#16
Nina F Steutel, Marc A Benninga, Miranda W Langendam, Judith J Korterink, Flavia Indrio, Hania Szajewska, Merit M Tabbers
OBJECTIVE: Infant colic (IC) is defined as recurrent and prolonged crying without an obvious cause or evidence of failure to thrive or illness. It is a common problem with a prevalence of 5%-25%. The unknown aetiology results in a wide variety in interventions and use of heterogeneous outcome measures across therapeutic trials. Our aim was to develop a core outcome set (COS) for IC to facilitate and improve evidence synthesis. DESIGN AND SETTING: Prospective study design; primary, secondary and tertiary care...
May 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28550872/hiatal-and-paraesophageal-hernia-repair-in-pediatric-patients
#17
Erin M Garvey, Daniel J Ostlie
Hiatal and paraesophageal hernia (HH/PEH) can be congenital, resulting from embryologic abnormalities/genetic predisposition, or acquired, most commonly after gastroesophageal surgery such as fundoplication. Minimizing circumferential esophageal dissection at the time of Nissen fundoplication has been shown to decrease the risk of acquired HH/PEH from 36.5% to 12.2%. Gastrointestinal, respiratory, and constitutional symptoms, including anemia and failure to thrive, are common with high rates of associated gastroesophageal reflux...
April 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28550871/gastroesophageal-reflux
#18
Bethany J Slater, Steven S Rothenberg
Gastroesophageal reflux disease (GERD) is a very common condition and affects approximately 7-20% of the pediatric population. Symptoms from pathological GERD include regurgitation, irritability when feeding, respiratory problems, and substernal pain. Treatment typically starts with dietary modifications and postural changes. Antireflux medications may then be added. Indications for operative management in the pediatric population include failure of medical therapy with poor weight gain or failure to thrive, continued respiratory symptoms, and complications such as esophagitis...
April 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/28538514/long-term-outcome-of-4-patients-with-transcobalamin-deficiency-caused-by-2-novel-tcn2-mutations
#19
Marwan Nashabat, Gustavo Maegawa, Peter H Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel
Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in methylmalonic acid and homocysteine. Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28535136/eosinophilic-esophagitis-in-a-kitten
#20
Julie Pera, Douglas Palma, Taryn A Donovan
A 4 mo old intact male kitten was presented for chronic regurgitation and failure to thrive after weaning to dry food. Esophageal dilatation and severe diffuse proliferative lesions of the esophageal mucosa were found via radiography and esophagoscopy, respectively. Histopathologic examination revealed severe, chronic, diffuse, hyperplastic eosinophilic and mastocytic esophagitis. Eosinophilic infiltrates were prominent, with a mean of 29.8 eosinophils per high power field, supportive of eosinophilic esophagitis (EoE)...
May 23, 2017: Journal of the American Animal Hospital Association
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