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https://www.readbyqxmd.com/read/28516132/life-threatening-hypercalcemia-during-prodrome-of-pneumocystis-jiroveci-pneumonia-in-an-immunocompetent-infant
#1
Judith Sebestyen VanSickle, Tarak Srivastava, Uri S Alon
Severe hypercalcemia in infants is usually attributed to genetic etiologies and less commonly to acquired ones. An 8-week-old girl presented with failure to thrive, mild respiratory distress, and life-threatening hypercalcemia (23.5 mg/dL). Serum 1,25(OH)2-vitamin D (1,25(OH)2-D) level was elevated and parathyroid hormone undetectable. Evaluation for genetic mutations and malignant etiologies of hypercalcemia was negative. Treatment with intravenous hydration, loop diuretic, and calcitonin failed to correct the hypercalcemia, which was subsequently controlled with bisphosphonate therapy...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28514243/celiac-disease-symptom-resolution-effectiveness-of-the-gluten-free-diet
#2
Naire Sansotta, Stefano Guandalini, Karine Amirikian, Hilary Jericho
OBJECTIVE: To evaluate the efficacy of the gluten free diet (GFD) on gastrointestinal and extra-intestinal symptom resolution and identify predictors for persistence of symptoms in all celiac patients at the University of Chicago. METHODS: We conducted a retrospective chart review from 2002 to 2015. Gastrointestinal (GI) symptoms included: abdominal pain, bloating, constipation, diarrhea, failure to thrive/weight loss, nausea, reflux and vomiting. Extra-intestinal (EI) symptoms included: abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis, alopecia, fatigue, headache, anemia, stomatitis, myalgia, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis, and infertility...
May 16, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28511811/autoimmune-voltage-gated-potassium-channelopathy-presenting-with-catecholamine-excess
#3
K Amy Stepp, Christin Folker, Marie Tanzer, Jennifer Hayman, Thomas Reynolds, Leah Mallory
BACKGROUND: Autoimmune voltage-gated potassium channelopathies have been associated with a range of neurological presenting symptoms, including central, peripheral, and autonomic dysfunction. PATIENT DESCRIPTION: We describe a 12-year-old boy who presented with nine months of pain, anxiety, and 30-pound weight loss. He was admitted for failure to thrive, then noted to be persistently hypertensive and tachycardic. Plasma metanephrines and urine metanephrines and catecholamines were elevated...
April 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28504504/-cornelia-de-lange-syndrome-and-multiple-hormonal-deficiency-an-unusual-association-clinical-case
#4
Víctor M Mora-Bautista, Víctor Mendoza-Rojas, Gustavo A Contreras-García
Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#5
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28488342/a-comparison-of-the-functional-health-of-children-with-costello-syndrome-in-1999-and-in-2015
#6
Viviana Bompadre, Tressa Mattioli-Lewis, Walid K Yassir, Michael J Goldberg
Costello Syndrome is a rare congenital condition characterized by failure-to-thrive, cardiac abnormalities, distinctive facial features, predisposition to malignant tumors, and developmental delay. In 1999, we analyzed the functional health in a cohort of 18 patients. Since then, a mutation in the HRAS gene has been found to be causative, medical management has been refined, and the level of awareness has increased. The purpose of this study is to compare the functional health outcomes from the 1999 cohort with data prospectively collected from a comparable cohort in 2015...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28482374/novel-rrm2b-mutation-and-severe-mitochondrial-dna-depletion-report-of-2-cases-and-review-of-the-literature
#7
Nesia Kropach, Vered Shkalim-Zemer, Naama Orenstein, Oded Scheuerman, Rachel Straussberg
Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness...
May 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#8
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28461616/case-3-jaundice-pallor-and-failure-to-thrive-in-a-7-week-old-infant
#9
Brigid O'Brien, Brittany Middleton, Erica Cua, Alex Resnick, Cynthia H Ho
No abstract text is available yet for this article.
May 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28442439/marshall-smith-syndrome-novel-pathogenic-variant-and-previously-unreported-associations-with-precocious-puberty-and-aortic-root-dilatation
#10
Anjali Aggarwal, Joanne Nguyen, Michelle Rivera-Davila, David Rodriguez-Buritica
Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We present a nine-year-old girl who was diagnosed with MRSHSS based on characteristic clinical features supported by the identification of a novel de novo pathogenic variant in the NFIX gene. The patient also presented with precocious puberty diagnosed at five years of age and had an abnormal GnRH stimulation test indicative of central precocious puberty...
April 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#11
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
April 11, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28407409/clinical-and-molecular-characterization-of-a-second-family-with-the-12q14-microdeletion-syndrome-and-review-of-the-literature
#12
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#13
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28397555/pyriform-aperture-stenosis-a-novel-approach-to-stenting
#14
Aaron Smith, Amanda Kull, Prasad Thottam, Anthony Sheyn
OBJECTIVES: Congenital nasal pyriform aperture stenosis (CNPAS) is one of several causes of neonatal respiratory distress. Congenital nasal pyriform aperture stenosis can be diagnosed by clinical presentation and evaluated by computed tomography for degree of stenosis. Surgical management of indicated cases involves drillout of pyriform aperture with placement of stents. The following case presents a novel approach to choice of stent in these patients. CASE PRESENTATION: We report the case of an infant diagnosed with CNPAS who underwent surgical correction at 9 days of life, with placement of mometasone fuorate stents...
June 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28390595/obstructive-sleep-apnea-in-a-5-month-old-with-tonsillar-hypertrophy-secondary-to-congenital-neutropenia-case-report-and-literature-review
#15
REVIEW
O G Ahmed, E M Lambert
Tonsillectomy and adenoidectomy (T&A) is the primary surgical treatment for obstructive sleep apnea (OSA) in children with tonsillar and adenoid hypertrophy (TAH). We present the case of a 5-month old male with congenital neutropenia who developed severe TAH during treatment with granulocyte colony-stimulating factor (G-CSF). He had severe OSA, decreased oral intake, and failure to thrive (FTT) which all improved after undergoing a successful intracapsular T&A. We describe a successful procedure to help alleviate symptoms of OSA and FTT in this young infant with congenital neutropenia who developed TAH during treatment with G-CSF...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28390190/systemic-scedosporium-prolificans-infection-in-an-11-month-old-border-collie-with-cobalamin-deficiency-secondary-to-selective-cobalamin-malabsorption-canine-imerslund-gr%C3%A3-sbeck-syndrome
#16
K Erles, A Mugford, D Barfield, T Leeb, P H Kook
An 11-month-old Border collie presented collapsed and continued to deteriorate rapidly despite supportive treatment. The dog had a history of failure to thrive and recurring respiratory infection. Laboratory abnormalities included neutrophilic leucocytosis, Heinz body anaemia, hyperammonaemia, hyperbilirubinaemia, proteinuria and hypocobalaminaemia. Post-mortem examination revealed multi-focal necrosis within the heart, kidneys, pancreas, liver, meninges and cerebral cortex. Fungal hyphae in lesions were identified as Scedosporium prolificans following culture...
April 8, 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/28389465/acquired-brucella-bacteraemia-in-a-young-infant
#17
Ambar Bhatnagar, Daisy Khera, Kuldeep Singh, Anuradha Sharma
An infant aged 6 weeks presented with failure to thrive since birth, fever and lethargy for 4 days. The child was fed on unpasteurised diluted goat's milk after birth. She was diagnosed to have brucellosis both by blood culture and serology. Her mother's Brucella serology was negative. She was successfully treated with injection amikacin and tablet rifampicin and had satisfactory weight gain thereafter. Acquired brucellosis should be considered in the differential diagnosis of failure to thrive in young infants...
April 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28386502/transumbilical-surgery-for-duodenal-stenosis-in-a-child-with-situs-inversus-the-first-report
#18
Isamu Saeki, Yu Ueno, Wataru Mukai, Reisuke Imaji, Takashi Akiyama
Background. Situs inversus is a rare congenital anomaly with a reported incidence of only 1 in 5,000 to 10,000 live births. Congenital duodenal stenosis complicated with situs inversus is an even rarer entity. Case Presentation. A 1-year-old girl with situs inversus who had undergone a hemi-Fontan procedure against a single ventricle in our hospital was referred to our department for vomiting and failure to thrive. An upper gastrointestinal contrast study and endoscopy revealed duodenal stenosis. A transumbilical radical operation as a minimally invasive surgery was successfully performed...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28385289/use-of-a-novel-docosahexaenoic-acid-formulation-vs-control-in-a-neonatal-porcine-model-of-short-bowel-syndrome-leads-to-greater-intestinal-absorption-and-higher-systemic-levels-of-dha
#19
Camilia R Martin, Barbara Stoll, Joanne Cluette-Brown, Adesola C Akinkuotu, Oluyinka O Olutoye, Kathleen M Gura, Pratibha Singh, Munir M Zaman, Michael C Perillo, Mark Puder, Steven D Freedman, Doug Burrin
Infants with short bowel syndrome (SBS) are at high risk for malabsorption, malnutrition, and failure to thrive. The objective of this study was to evaluate in a porcine model of SBS, the systemic absorption of a novel enteral Docosahexaenoic acid (DHA) formulation that forms micelles independent of bile salts (DHA-ALT®). We hypothesized that enteral delivery of DHA-ALT® would result in higher blood levels of DHA compared to a control DHA preparation due to improved intestinal absorption. SBS was induced in term piglets through a 75% mid-jejunoileal resection and the piglets randomized to either DHA-ALT® or control DHA formulation (N=5 per group) for 4 postoperative days...
March 2017: Nutrition Research
https://www.readbyqxmd.com/read/28385101/outcome-of-surgery-for-pediatric-gastroesophageal-reflux-clinical-and-endoscopic-follow-up-after-300-fundoplications-in-279-consecutive-patients
#20
A I Koivusalo, M P Pakarinen
PURPOSE: Clinical and endoscopic assessment of the outcome after fundoplication for pediatric gastroesophageal reflux. BASIC PROCEDURES: Hospital records of 279 consecutive patients who underwent fundoplication for gastroesophageal reflux from 1991 to 2014 were reviewed. Underlying disorders, clinical and endoscopic findings, imaging studies, pH monitoring, and surgical technique were assessed. Main outcome measures were patency of fundoplication, control of symptoms and esophagitis, complications, redo operations, and predictive factors of failures...
April 1, 2017: Scandinavian Journal of Surgery: SJS
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