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Cyclic vomiting

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https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#1
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27910222/cyclic-vomiting-syndrome-is-characterized-by-altered-functional-brain-connectivity-of-the-insular-cortex-a-cross-comparison-with-migraine-and-healthy-adults
#2
D-M Ellingsen, R G Garcia, J Lee, R L Lin, J Kim, A H Thurler, S Castel, L Dimisko, B R Rosen, N Hadjikhani, B Kuo, V Napadow
Cyclic Vomiting Syndrome (CVS) has been linked to episodic migraine, yet little is known about the precise brain-based mechanisms underpinning CVS, and whether these associated conditions share similar pathophysiology. We investigated the functional integrity of salience (SLN) and sensorimotor (SMN) intrinsic connectivity networks in CVS, migraine and healthy controls using brain functional Magnetic Resonance Imaging. CVS, relative to both migraine and controls, showed increased SLN connectivity to middle/posterior insula, a key brain region for nausea and viscerosensory processing...
December 1, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/27787513/the-cyclic-vomiting-syndrome-threshold-a-framework-for-understanding-pathogenesis-and-predicting-successful-treatments
#3
David J Levinthal
Cyclic vomiting syndrome (CVS) is an uncommon, idiopathic disorder defined by recurrent, sudden-onset attacks of repetitive retching and vomiting that are separated by symptom-free intervals. CVS was long regarded as a disorder primarily experienced by children but is now known to present de novo in adulthood. Adult CVS has garnered more research attention over the past 20 years, and these efforts have identified some acute and prophylactic treatments for this disorder. However, CVS still lacks a unifying disease model, and this has hindered the development of new therapies...
October 27, 2016: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/27757817/novel-treatments-for-cyclic-vomiting-syndrome-beyond-ondansetron-and-amitriptyline
#4
Sanjay Bhandari, Thangam Venkatesan
Cyclic vomiting syndrome (CVS) is a chronic functional gastrointestinal disorder that is characterized by episodic nausea and vomiting. Initially thought to only affect children, CVS in adults was often misdiagnosed with significant delays in therapy. Over the last decade, there has been a considerable increase in recognition of CVS in adults but there continues to be a lack of knowledge about management of this disorder. This paper seeks to provide best practices in the treatment of CVS and also highlight some novel therapies that have the potential in better treating this disorder in the future...
October 18, 2016: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/27733950/cyclic-vomiting-syndrome-an-update-illustrated-by-a-case-report
#5
Ingeborg P M Hermus, Stacey J B Willems, Aimée C C F Bogman, Paddy K C Janssen, Leonie Brabers, Jan N M Schieveld
OBJECTIVE: This article presents an update on cyclic vomiting syndrome, a potentially exhausting disorder that can occur in children, adolescents, and adults and and has a huge impact on the quality of life. A structured literature search was conducted to explore the current knowledge about antipsychotics in the treatment of cyclic vomiting syndrome. A case report is presented of a 15-year-old boy with refractory cyclic vomiting syndrome (ICD-10 criteria), who finally responded to a unique combination of risperidone and amitriptyline...
2016: Primary Care Companion to CNS Disorders
https://www.readbyqxmd.com/read/27721779/anti-cyclic-citrullinated-peptide-antibody-positive-meningoencephalitis-in-the-preclinical-period-of-rheumatoid-arthritis
#6
Tomoya Shibahara, Tomonaga Matsushita, Ryu Matsuo, Yoshihisa Fukushima, Kenji Fukuda, Hiroshi Sugimori, Masahiro Kamouchi, Takanari Kitazono, Tetsuro Ago
Rheumatoid meningoencephalitis (RM) is a rare complication of rheumatoid arthritis (RA). This report describes a 63-year-old man with complaints of high-grade fever, headache, and vomiting for several days before admission. Both his serum and cerebrospinal fluid were positive for anti-cyclic citrullinated peptide (CCP) antibody and rheumatoid factor, and contrast-enhanced fluid-attenuated inversion recovery magnetic resonance imaging (MRI) showed abnormal gadolinium enhancement of the meninges and high-intensity lesions in the subarachnoid spaces...
May 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27663074/genetic-analysis-of-hyperemesis-gravidarum-reveals-association-with-intracellular-calcium-release-channel-ryr2
#7
Marlena Schoenberg Fejzo, Ronny Myhre, Lucía Colodro-Conde, Kimber W MacGibbon, Janet S Sinsheimer, M V Prasad Linga Reddy, Päivi Pajukanta, Dale R Nyholt, Margaret J Wright, Nicholas G Martin, Stephanie M Engel, Sarah E Medland, Per Magnus, Patrick M Mullin
Hyperemesis Gravidarum (HG), severe nausea/vomiting in pregnancy (NVP), can cause poor maternal/fetal outcomes. Genetic predisposition suggests the genetic component is essential in discovering an etiology. We performed whole-exome sequencing of 5 families followed by analysis of variants in 584 cases/431 controls. Variants in RYR2 segregated with disease in 2 families. The novel variant L3277R was not found in any case/control. The rare variant, G1886S was more common in cases (p = 0.046) and extreme cases (p = 0...
September 20, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27597918/successful-treatment-of-suspected-cannabinoid-hyperemesis-syndrome-using-haloperidol-in-the-outpatient-setting
#8
Jennifer L Jones, Karen E Abernathy
Chronic use of cannabis can result in a syndrome of hyperemesis characterized by cyclical vomiting without any other identifiable causes. Cannabinoid hyperemesis syndrome (CHS) is seldom responsive to traditional antiemetic therapies. Despite frequent nausea and vomiting, patients may be reluctant to discontinue use of cannabis. We report a case of severe, refractory CHS with complete resolution of nausea and vomiting after treatment with haloperidol in the outpatient setting. After review of the literature, we believe this is the first reported successful outpatient treatment of CHS and suggests a potential treatment for refractory patients...
2016: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/27554769/anxiety-and-physiological-responses-to-the-trier-social-stress-test-for-children-in-adolescents-with-cyclic-vomiting-syndrome
#9
Sally E Tarbell, Amanda Millar, Mark Laudenslager, Claire Palmer, John E Fortunato
This study compared anxiety and physiological responses during the Trier Social Stress Test for Children (TSST-C) in adolescents. 38 subjects (26 females) were enrolled: 11 cyclic vomiting syndrome (CVS), 11 anxiety, and 16 controls. Salivary cortisol, α-amylase and heart rate variability (HRV) were assessed during the TSST-C. Anxiety was measured by the Screen for Childhood Anxiety Related Emotional Disorders (SCARED), Anxiety Disorders Interview Schedule, and State-Trait Anxiety Inventory for Children (STAI-C)...
August 16, 2016: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/27554498/prevalence-of-functional-gastrointestinal-disorders-among-adolescents-in-delhi-based-on-rome-iii-criteria-a-school-based-survey
#10
Vidyut Bhatia, Shivani Deswal, Swati Seth, Akshay Kapoor, Anupam Sibal, Sarath Gopalan
BACKGROUND: Functional gastrointestinal diseases (FGIDs) are emerging as an important cause of morbidity in adolescents globally. The prevalence of FGIDs among Indian children or adolescents is not clear. METHODS: A cross-sectional school-based survey conducted in 1115 children aged 10-17 years attending four semi urban government schools of National capital territory (NCT) of Delhi. Rome III questionnaire was translated into Hindi and was filled by the students under supervision...
July 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/27530876/symptomatic-management-of-a-child-with-cyclic-vomiting-syndrome
#11
Shanthan Mettu, Dwitha Animireddy, Pratej Kiran Kanumuri, Radhika Muppa
No abstract text is available yet for this article.
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27515947/cerebral-vasospasm-and-wernicke-encephalopathy-secondary-to-adult-cyclic-vomiting-syndrome-the-role-of-magnesium
#12
Álvaro Sánchez-Larsen, Tomás Segura, Susana García-Muñozguren, Javier Peinado-Ródenas, Joaquín Zamarro, Francisco Hernández-Fernández
BACKGROUND: Magnesium has a regulatory role in the excitability of cell membranes, and is also a cofactor in the phosphorylation of thiamine. Hypomagnesemia has been associated with coronary vasospasm, but its role in cerebrovascular pathology is controversial, and cerebral vasospasm exclusively attributable to hypomagnesemia has not been reported in humans. CASE PRESENTATION: We report the case of a 51-year-old man in whom uncontrollable vomiting, treatment with omeprazole and thiazide, and renal impairment lead to a severe hypomagnesemia (magnesium below the level of detection in blood tests), which secondarily caused Wernicke's encephalopathy and vasospasm in multiple cerebral arteries (seen with cerebral angiography and CT angiography) that presented with a complete right hemisphere neurological deficit...
August 11, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27485997/cannabis-hyperemesis-syndrome-in-the-emergency-department-how-can-a-specialized-addiction-team-be-useful-a-pilot-study
#13
Fanny Pélissier, Isabelle Claudet, Peggy Gandia-Mailly, Amine Benyamina, Nicolas Franchitto
BACKGROUND: Chronic cannabis users may experience cyclical episodes of nausea and vomiting and learned behavior of hot bathing. This clinical condition, known as cannabis hyperemesis syndrome, was first reported in 2004. OBJECTIVE: Our aim was to promote early recognition of this syndrome in emergency departments (EDs) and to increase referral to addiction specialists. METHODS: Cannabis abusers were admitted to the ED for vomiting or abdominal pain from June 1, 2014 to January 1, 2015 and diagnosed with cannabis hyperemesis syndrome by a specialized addiction team...
July 30, 2016: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27466294/novel-and-recurrent-acads-mutations-and-clinical-manifestations-observed-in-korean-patients-with-short-chain-acyl-coenzyme-a-dehydrogenase-deficiency
#14
Yoo-Mi Kim, Chong-Kun Cheon, Kyung-Hee Park, SungWon Park, Gu-Hwan Kim, Han-Wook Yoo, Kyung-A Lee, Jung Min Ko
Short-chain acyl-CoA dehydrogenase (SCAD) catalyzes the first step in mitochondrial short-chain β-oxidation, and its deficiency is caused by mutations in the ACADS We sought to investigate the spectrum ACADS mutations and associated clinical manifestations in Korean patients with SCAD deficiency. The study included ten patients with SCAD deficiency from 8 unrelated families as diagnosed by biochemical profile and mutation analyses. Clinical features, biochemical data, growth, and neurodevelopmental state were reviewed retrospectively...
July 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27423188/pharmacological-interventions-on-early-functional-gastrointestinal-disorders
#15
REVIEW
Silvia Salvatore, Salvatore Barberi, Osvaldo Borrelli, Annamaria Castellazzi, Dora Di Mauro, Giuseppe Di Mauro, Mattia Doria, Ruggiero Francavilla, Massimo Landi, Alberto Martelli, Vito Leonardo Miniello, Giovanni Simeone, Elvira Verduci, Carmen Verga, Maria Assunta Zanetti, Annamaria Staiano
BACKGROUND: Functional gastrointestinal disorders (FGIDs) are chronic or recurrent gastrointestinal symptoms without structural or biochemical abnormalities. FGIDs are multifactorial conditions with different pathophysiologic mechanisms including altered motility, visceral hyperalgesia, brain-gut disturbance, genetic, environmental and psychological factors. Although in most cases gastrointestinal symptoms are transient and with spontaneous resolution in infancy multiple dietary changes and pharmacological therapy are often started despite a lack of evidence-based data...
July 16, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27385864/cannabinoid-hyperemesis-syndrome-as-an-unusual-cause-of-cyclic-vomiting
#16
Srinivasan Ramadurai, Sowmya Gopalan, Preetam Arthur
No abstract text is available yet for this article.
April 2016: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/27370603/trnt1-deficiency-clinical-biochemical-and-molecular-genetic-features
#17
Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A Powell, Sarah Pearce, Vincent Plagnol, José W Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B Mills, Jan-Willem Taanman, Michal Minczuk, Peter T Clayton, Shamima Rahman
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS: We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance during these episodes, sideroblastic anaemia, B lymphocyte immunodeficiency, retinitis pigmentosa, hepatosplenomegaly, exocrine pancreatic insufficiency and renal tubulopathy...
July 2, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27332558/functional-dyspepsia-and-gastroparesis
#18
Michael Camilleri
BACKGROUND: Upper gastrointestinal disorders typically present with common symptoms. The most relevant non-mucosal diseases are gastroparesis, functional dyspepsia and rumination syndrome. The literature pertaining to these 3 conditions was reviewed. KEY MESSAGES: Gastroparesis is characterized by delayed gastric emptying in the absence of mechanical obstruction of the stomach. The cardinal symptoms include postprandial fullness (early satiety), nausea, vomiting and bloating...
2016: Digestive Diseases
https://www.readbyqxmd.com/read/27302967/a-new-approach-to-the-prophylaxis-of-cyclic-vomiting-topiramate
#19
Oya B Sezer, Taner Sezer
Background/Aims: The aim of this study was to compare the efficacy and tolerability of topiramate and propranolol in preventing pediatric cyclic vomiting syndrome. Methods: A retrospective medical-record review of patients who underwent prophylaxis after receiving a diagnosis of cyclic vomiting syndrome was performed. Patients who completed at least 12 months of treatment were included in the analysis. Responder rate, and adverseevent rates were also calculated from all patients...
October 30, 2016: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/27295358/beaulieu-boycott-innes-syndrome-an-intellectual-disability-syndrome-with-characteristic-facies
#20
Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari, Andrew Green, Sally A Lynch, Ellen Crushell, Joanne Hughes
We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her mother also have multiple epiphyseal dysplasia. Whole-exome sequencing was performed to identify the underlying genetic cause. DNA from the proband was enriched with the Agilent Sure Select v5 Exon array and sequenced on an Illumina HiSeq...
October 2016: Clinical Dysmorphology
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