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https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#1
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29150053/failure-to-thrive-case-definition-guidelines-for-data-collection-analysis-and-presentation-of-maternal-immunisation-safety-data
#2
Elizabeth Ross, Flor M Munoz, Bassey Edem, Cassandra Nan, Fyezah Jehan, Julie Quinn, Tamala Mallett Moore, Sanie Sesay, Hans Spiegel, Librada Fortuna, Sonali Kochhar, Jim Buttery
No abstract text is available yet for this article.
December 4, 2017: Vaccine
https://www.readbyqxmd.com/read/29149805/observational-cohort-study-safety-outcomes-in-children-using-proton-pump-inhibitors-or-histamine-2-receptor-antagonists
#3
Eline Houben, Saga Johansson, Péter Nagy, Fernie J A Penning-van Beest, Ernst J Kuipers, Ron M C Herings
OBJECTIVE: Acid suppression with histamine-2 receptor antagonists (H2RAs) or proton pump inhibitors (PPIs) is recommended for children with persistent gastroesophageal reflux disease symptoms. In this retrospective, observational postauthorization study, we aimed to assess and compare safety outcomes in pediatric first-time users of esomeprazole, other PPIs, or H2RAs. METHODS: Data on children (aged 0-18 years) first dispensed esomeprazole, other PPIs, or H2RAs between September 2008 and August 2011 were obtained from the Dutch PHARMO Database Network...
November 17, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#4
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29141924/antenatal-bartter-syndrome-presenting-with-vomiting-and-constipation-mimicking-subacute-intestinal-obstruction-in-a-20-day-old-neonate
#5
Ibtihal Siddiq Abdelgadir, Fawzia Elgharbawy, Khalil Mohamad Salameh, Baha Eldin Juma
Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis...
November 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29141314/-a-novel-compound-heterozygous-mutation-in-abca3-gene-in-a-child-with-diffuse-parenchymal-lung-disease
#6
Y M Bao, X L Liu, X L Liu, J H Chen, Y J Zheng
Objective: To summarize the clinical characteristics of the diffuse parenchymal lung diseases in a child caused by a novel compound heterozygous ABCA3 mutation and explore the association between the phenotype and ABCA3 mutation. Method: The clinical material of a patient diagnosed with diffuse parenchymal lung disease with ABCA3 mutation in December 2016 in Shenzhen Children's Hospital was analyzed. The information about ABCA3 gene mutation updated before April, 2017 was searched and collected from the gene databases (including 1000Genomes, HGMD, EXAC) and the literatures (including Wanfang Chinese database and Pubmed)...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29129296/eosinophilic-esophagitis-incidence-and-prevalence
#7
REVIEW
Fouad J Moawad
Eosinophilic esophagitis (EoE) is a rapidly emerging allergy-mediated condition encountered frequently in clinical practice. It presents with failure to thrive, nausea, and vomiting in children and is a common reason for dysphagia and food impaction in adults. Several institution-based and population-based studies have reported the frequency of EoE over the past few years. The incidence and prevalence of EoE vary depending on the method of data collection. In population-based studies using national registries, the incidence appears to be increasing, currently estimated to be approximately 10 cases/100,000 persons annually, whereas the prevalence is reported between 10 and 57 cases/100,000 persons...
January 2018: Gastrointestinal Endoscopy Clinics of North America
https://www.readbyqxmd.com/read/29127961/fundoplication
#8
REVIEW
Bethany J Slater, Steven S Rothenberg
Gastroesophageal reflux disease (GERD) is a common condition in infants. Symptoms from pathologic GERD include regurgitation, irritability when feeding, failure to thrive, and respiratory problems. Treatment typically starts with dietary modifications and postural changes. Antireflux medications may then be added. Indications for operative management in neonates and infants include poor weight gain, failure to thrive, acute life-threatening events, and continued respiratory symptoms. Laparoscopic Nissen fundoplication has become the standard of care for surgical treatment of children with GERD...
December 2017: Clinics in Perinatology
https://www.readbyqxmd.com/read/29109046/when-should-infants-with-cow-s-milk-protein-allergy-use-an-amino-acid-formula-a-practical-guide
#9
Rosan Meyer, Marion Groetch, Carina Venter
Cow's milk protein allergy (CMPA) is the most common food allergy in childhood and its prevalence ranges between 1.9% and 4.9%. Most children present with CMPA at age less than 1 year and therefore may require a hypoallergenic formula in the absence of breast milk. Hypoallergenic formulas include both extensively hydrolyzed formula (EHF) and amino acid formula (AAF). For most children with a CMPA, an EHF will be sufficient for symptom resolution, as reflected in current guidelines, but there is a subset of children with CMPA where an AAF may be indicated...
November 3, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29101573/transcatheter-atrial-septal-defect-closure-in-an-infant-body-weight-6-4%C3%A2-kg-using-the-gore-cardioform-septal-occluder-gcso
#10
Roman Scheidmann, Thomas Paul, Matthias Sigler
INTRODUCTION: Transcatheter closure has become the treatment of choice for secundum atrial septal defects (ASD II), but particularly in small children, there is concern regarding procedure-related complications. CASE DESCRIPTION: We report on a 10-month-old infant, body weight of 6.4 kg, with a large ASD who was referred for failure to thrive and dyspnea on exertion. Echocardiography showed two neighboring ASDs centrally located within an atrial septum with a length of 27 mm resulting in significant left-to-right shunting...
November 3, 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29095421/modern-management-of-pancreatic-fluid-collections
#11
Iman Andalib, Enad Dawod, Michel Kahaleh
The last decade has seen dramatic shift in paradigm in the management of pancreatic fluid collections with the rise of endoscopic therapy over radiologic or surgical management. Endosonographic drainage is now considered the gold standard therapy for pancreatic pseudocyst. Infected pancreatic necroses are being offered endoscopic necrosectomy that has been facilitated by the arrival on the market of large diameter lumen-apposing metal stent. Severe pancreatitis or failure to thrive should receive enteral nutrition while pancreatic ductal disruption or strictures are best treated by pancreatic stenting...
October 31, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/29090599/a-female-infant-with-vomiting-and-failure-to-thrive
#12
Abigail Russ, Anwar Rjoop, Rebecca A Levy, Ciji Arthur, Ginell R Post
No abstract text is available yet for this article.
October 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/29081931/atypical-clinical-presentation-and-successful-treatment-with-oral-cholic-acid-of-a-child-with-defective-bile-acid-synthesis-due-to-a-novel-mutation-in-the-hsd3b7-gene
#13
Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone
We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β-hydroxy-Δ(5)-C(27)-steroid dehydrogenase (3β-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). HSDH3B7 gene analysis identified one mutation in intron 4, at nucleotide 432, G>A substitution that has never been reported before...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29062383/perventricular-muscular-ventricular-septal-defect-vsd-closure-under-epicardial-echocardiography-guidance-a-case-report
#14
Akbar Molaei, Abbas Afrasiabi, Eisa Bilejani, Mahmud Samadi
Ventricular septal defects (VSDs) are among the most common congenital cardiac lesions. Large defects at apicomuscular regions, especially in young patients, are far from accessible to surgeons for conventional surgery. Moreover, the transcatheter closure of VSDs in these patients is difficult and carries a high risk of complications because of the large sheath size relative to the patient's size. The periventricular approach simplifies VSD closure and, thus, eliminates the potential complications of cardiac catheterization and fluoroscopy as it is performed under echocardiographic guidance...
July 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/29042419/a-3-month-old-with-failure-to-thrive-and-persistent-vomiting
#15
Julia A Heneghan, Jonathan Moses, Karen Lidsky, Anne Kim, Melani DeSapri, Allayne Stephans
A 3-month-old boy was admitted from his pediatrician's office for failure to thrive and vomiting. On admission, he weighed barely more than his birth weight and was cachectic with muscle wasting. His abdomen was grossly distended but soft and nontender. A trial of nasogastric feeds resulted in a worsening of his clinical status. He was transferred to the ICU, and diagnostic imaging was concerning for a distal bowel obstruction. Surgical pathology revealed a surprising diagnosis, which is described in detail in the following case...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29026575/cystic-fibrosis-and-silver-russell-syndrome-due-to-a-partial-maternal-isodisomy-of-chromosome-7
#16
Lonneke C Gerbrands, Eric G Haarman, Margot A Hankel, Martijn J J Finken
If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver-Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small-for-gestational-age birth.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29025781/subclinical-meningoventriculitis-as-a-cause-of-obstructive-hydrocephalus
#17
Ravindran Visagan, Laurent James Livermore, Dominic Kelly, Shailendra Magdum
Communicating hydrocephalus may complicate infantile bacterial meningitis, typically presenting with systemic features of infection. We report a rare case of 'subclinical meningoventriculitis' causing obstructive hydrocephalus and its challenging management. A healthy 10-week-old immunocompetent male patient presented with failure to thrive and vomiting, secondary to presumed gastro-oesophageal reflux. The child was neurologically alert, afebrile with normal inflammatory markers. Progressive macrocephaly prompted an MRI confirming triventricular hydrocephalus secondary to aqueductal stenosis...
October 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29023813/dual-catenin-loss-in-murine-liver-causes-tight-junctional-deregulation-and-progressive-intrahepatic-cholestasis
#18
Tirthadipa Pradhan-Sundd, Lili Zhou, Ravi Vats, An Jiang, Laura Molina, Sucha Singh, Minakshi Poddar, Jacquelyn M Russell, Donna B Stolz, Michael Oertel, Udayan Apte, Simon Watkins, Sarangarajan Ranganathan, Kari N Nejak-Bowen, Prithu Sundd, Satdarshan P Monga
β-Catenin, the downstream effector of the Wnt signaling, plays important roles in hepatic development, regeneration and tumorigenesis. However, its role at hepatocyte adherens junctions (AJ) is relatively poorly understood, chiefly due to spontaneous compensation by γ-catenin. Here, we simultaneously ablate β- and γ-catenin expression in mouse liver by interbreeding β-catenin-γ-catenin double-floxed mice and albumin-cre transgenic mice. Double knockout mice (DKO) show failure to thrive, impaired hepatocyte differentiation, cholemia, ductular reaction, progressive cholestasis, inflammation, fibrosis and tumorigenesis, which was associated with deregulation of tight junctions (TJ) and bile acid transporters, leading to early morbidity and mortality, a phenotype reminiscent of Progressive Familial Intrahepatic Cholestasis (PFIC)...
October 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29018965/the-role-of-maintenance-therapy-in-eosinophilic-esophagitis-who-why-and-how
#19
REVIEW
Hamish Philpott, Evan S Dellon
In patients with eosinophilic esophagitis (EoE) who do not respond to proton pump inhibitors, initial anti-inflammatory/anti-eosinophilic treatment is with either topical corticosteroids or dietary elimination. A large body of literature supports the efficacy of these approaches, with histologic response rates in the 50-90% range for steroids and 70% range for the six-food elimination diet. However, these studies are almost all short-term and data evaluating long-term safety and efficacy of either treatment are limited...
October 10, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29018201/activating-de-novo-mutations-in-nfe2l2-encoding-nrf2-cause-a-multisystem-disorder
#20
Peter Huppke, Susann Weissbach, Joseph A Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Transcription factor NRF2, encoded by NFE2L2, is the master regulator of defense against stress in mammalian cells. Somatic mutations of NFE2L2 leading to NRF2 accumulation promote cell survival and drug resistance in cancer cells. Here we show that the same mutations as inborn de novo mutations cause an early onset multisystem disorder with failure to thrive, immunodeficiency and neurological symptoms. NRF2 accumulation leads to widespread misregulation of gene expression and an imbalance in cytosolic redox balance...
October 10, 2017: Nature Communications
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