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https://www.readbyqxmd.com/read/29340927/achalasia-cardia-in-a-young-infant
#1
V Poornachand, K Kumarasamy, S P Karamath, V Seenivasan, Sumathi Bavanandam, Nirmala Dheivamani
Achalasia cardia is an esophageal motility disorder rarely reported in children and more so in young infants. Common clinical presentations include vomiting, dysphagia, regurgitation, recurrent pulmonary aspiration and failure to thrive. Diagnosis is made by barium swallow study and esophageal manometry, which is the gold standard test. Pharmocological management and endotherapy often fails and results in recurrence of symptoms. Laparoscopic Hellers myotomy, with or without anti-reflux procedure is the standard treatment of choice for children...
January 17, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29334914/-crying-without-tears-as-an-early-diagnostic-sign-post-of-triple-a-allgrove-syndrome-two-case-reports
#2
Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler
BACKGROUND: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign...
January 15, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#3
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29326860/retroperitoneal-mass-masquerading-as-failure-to-thrive-in-a-91-year-old-woman
#4
Gabriel O Ologun, Noel Yarze, David Bertsch, Joseph Mwesige
Failure to thrive (FTT) is a state of overall decline. Patients often present with weight loss, poor appetite, malnutrition, and decreased physical functioning. The etiology is multifactorial including chronic diseases, functional impairments, and acute illnesses. Evaluation for reversible causes is paramount, and treatment is aimed at maintaining or improving functional status. We present a case of a 91-year-old woman with a retroperitoneal mass that was found on workup for failure to thrive.
November 8, 2017: Curēus
https://www.readbyqxmd.com/read/29324645/esophageal-web-in-a-down-syndrome-infant-a-rare-case-report
#5
Nirmala Thomas, Roy J Mukkada, Muhammed Jasim Abdul Jalal, Nisha Narayanankutty
We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down's syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature...
January 11, 2018: Children
https://www.readbyqxmd.com/read/29316359/whole-exome-sequencing-diagnoses-the-first-fetal-case-of-bainbridge-ropers-syndrome-presenting-as-pontocerebellar-hypoplasia-type-1
#6
Séverine Bacrot, Charlotte Mechler, Naima Talhi, Dominique Martin-Coignard, Philippe Roth, Caroline Michot, Amale Ichkou, Olivier Alibeu, Patrick Nitschke, Sophie Thomas, Michel Vekemans, Férechté Razavi, Lucile Boutaud, Tania Attie-Bitach
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene. CASE: We report here the first case of prenatal BRPS in a fetus presenting with arthrogryposis on ultrasound and for pontocerebellar hypoplasia type 1 (PCH1) following neuropathological examination. The diagnosis was done by whole exome sequencing that identified a novel de novo ASXL3 mutation...
January 8, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#7
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29282788/mpv17-related-mitochondrial-dna-maintenance-defect-new-cases-and-review-of-clinical-biochemical-and-molecular-aspects
#8
Ayman W El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J Gambello, Pankaj Prasun, Saleem Raza, Hernando J Lyons, Manal Afqi, Mohammed A M Saleh, Eissa A Faqeih, Hamad I Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah S Barbouth, Kei Murayama, Amit A Shah, Henry C Lin, Lee-Jun C Wong
Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants...
December 27, 2017: Human Mutation
https://www.readbyqxmd.com/read/29278249/governing-the-resilience-of-neoliberalism-through-biopolitics
#9
Luca Mavelli
Neoliberalism is widely regarded as the main culprit for the 2007/2008 global financial crisis. However, despite this abysmal failure, neoliberalism has not merely survived the crisis, but actually 'thrived'. How is it possible to account for the resilience of neoliberalism? Existing scholarship has answered this question either by focusing on the distinctive qualities of neoliberalism (such as adaptability, internal coherence and capacity to incorporate dissent) or on the biopolitical capacity of neoliberalism to produce resilient subjects...
September 2017: Eur J Int Relat
https://www.readbyqxmd.com/read/29275161/aging-inflammation-and-the-environment
#10
REVIEW
Arsun Bektas, Shepherd H Schurman, Ranjan Sen, Luigi Ferrucci
The aging process is driven by interrelated mechanisms that lead to the emergence of characteristic phenotypes that include changes in body composition, energy production and utilization imbalance, homeostatic dysregulation, and neurodegeneration and loss of neuroplasticity. Mainstream theories of aging all recognize that the aging phenotypes result from an imbalance between stressors and stress buffering mechanisms and a resultant loss of compensatory reserve leading to accumulation of unrepaired damage. This in turn results in increased disease susceptibility, reduced functional reserve, reduced healing capacity and stress resistance, unstable health and finally failure to thrive...
December 21, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/29261178/laboratory-diagnosis-of-galactosemia-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics-acmg
#11
Marzia Pasquali, Chunli Yu, Bradford Coffee
Disclaimer: These ACMG Standards and Guidelines are developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29248509/costello-syndrome-the-challenge-of-hypoglycemia-and-failure-to-thrive
#12
C Leoni, E Flex
No abstract text is available yet for this article.
December 7, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29243034/application-of-pyridostigmine-in-pediatric-gastrointestinal-motility-disorders-a-case-series
#13
Mhd Louai Manini, Michael Camilleri, Rayna Grothe, Carlo Di Lorenzo
BACKGROUND: Gastrointestinal (GI) motility disorders are common in children. Treatment is challenging with limited medical and surgical options. Pyridostigmine, an acetyl cholinesterase inhibitor, increases acetylcholine at the neuromuscular junction promoting intestinal contractions. Little is known about the role and dosing of pyridostigmine in pediatric GI motility disorders. METHODS: We present a case series of children with GI dysmotility managed with oral pyridostigmine...
December 14, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/29224749/supraglottoplasty-for-laryngomalacia-the-experience-from-concepcion-chile
#14
Sahba Sedaghat, Felipe Fredes, Mario Tapia
OBJECTIVE: To review the clinical manifestations and outcomes of supraglottoplasty in patients with moderate to severe laryngomalacia at Guillermo Grant Benavente Hospital between January 2015 and January 2017. METHODS: Retrospective study of patients with laryngomalacia who underwent CO2 laser supraglottoplasty at a tertiary referral center. A review of medical records of these patients was performed. Epidemiological data along with symptoms, comorbidities, morphological type of laryngomalacia, synchronous airway lesions, surgery outcomes and satisfaction of parents after the procedure were recorded...
December 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29212390/serratiopeptidase-reduces-the-invasion-of-osteoblasts-by-staphylococcus-aureus
#15
Laura Selan, Rosanna Papa, Angela Ermocida, Andrea Cellini, Evaristo Ettorre, Gianluca Vrenna, Davide Campoccia, Lucio Montanaro, Carla Renata Arciola, Marco Artini
Finding new strategies to counteract periprosthetic infection and implant failure is a main target in orthopedics. Staphylococcus aureus, the leading etiologic agent of orthopedic implant infections, is able to enter and kill osteoblasts, to stimulate pro-inflammatory chemokine secretion, to recruit osteoclasts, and to cause inflammatory osteolysis. Moreover, by entering eukaryotic cells, staphylococci hide from the host immune defenses and shelter from the extracellular antibiotics. Thus, infection persists, inflammation thrives, and a highly destructive osteomyelitis occurs around the implant...
December 1, 2017: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/29209459/effects-of-zinc-supplementation-on-catch-up-growth-in-children-with-failure-to-thrive
#16
Seul-Gi Park, Ha-Neul Choi, Hye-Ran Yang, Jung-Eun Yim
BACKGROUND/OBJECTIVES: Although globally the numbers of children diagnosed with failure to thrive (FTT) have decreased, FTT is still a serious pediatric problem. We aimed to investigate the effects of zinc supplementation for 6 months on growth parameters of infants and children with FTT. SUBJECTS/METHODS: In this retrospective study, of the 114 participants aged between 4 months and 6 years, 89 were included in the zinc supplementation group and were provided with nutrition counseling plus an oral zinc supplement for 6 months...
December 2017: Nutrition Research and Practice
https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#17
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29207214/feed-thickener-for-infants-up-to-six-months-of-age-with-gastro-oesophageal-reflux
#18
REVIEW
T'ng Chang Kwok, Shalini Ojha, Jon Dorling
BACKGROUND: Gastro-oesophageal reflux (GOR) is common in infants, and feed thickeners are often used to manage it in infants as they are simple to use and perceived to be harmless. However, conflicting evidence exists to support the use of feed thickeners. OBJECTIVES: To evaluate the use of feed thickeners in infants up to six months of age with GOR in terms of reduction in a) signs and symptoms of GOR, b) reflux episodes on pH probe monitoring or intraluminal impedance or a combination of both, or c) histological evidence of oesophagitis...
December 5, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29201470/a-novel-mutation-of-the-cyp11b2-in-a-saudi-infant-with-primary-hypoaldosteronism
#19
Lama Alfaraidi, Abrar Alfaifi, Rawan Alquaiz, Faten Almijmaj, Horia Mawlawi
Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests revealed hyponatremia, hyperkalemia, and metabolic acidosis with high renin and low aldosterone. Blood samples were collected for endocrine and genetic studies. Sequence analysis of the CYP11B2 revealed a T to A transition at position 1398 + 2 in exon 8 of the gene in a homozygous state (c...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29198259/management-of-undernutrition-and-failure-to-thrive-in-children-with-congenital-heart-disease-in-low-and-middle-income-countries
#20
Andrew C Argent, Rakhi Balachandran, Balu Vaidyanathan, Amina Khan, R Krishna Kumar
Poor growth with underweight for age, decreased length/height for age, and underweight-for-height are all relatively common in children with CHD. The underlying causes of this failure to thrive may be multifactorial, including innate growth potential, severity of cardiac disease, increased energy requirements, decreased nutritional intake, malabsorption, and poor utilisation of absorbed nutrition. These factors are particularly common and severe in low- and middle-income countries. Although nutrition should be carefully assessed in all patients, failure of growth is not a contraindication to surgical repair, and patients should receive surgical repair where indicated as soon as possible...
December 2017: Cardiology in the Young
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