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https://www.readbyqxmd.com/read/28916119/safety-and-efficacy-of-glycerol-phenylbutyrate-for-management-of-urea-cycle-disorders-in-patients-aged-2months-to-2years
#1
Susan A Berry, Nicola Longo, George A Diaz, Shawn E McCandless, Wendy E Smith, Cary O Harding, Roberto Zori, Can Ficicioglu, Uta Lichter-Konecki, Beth Robinson, Jerry Vockley
INTRODUCTION: Glycerol phenylbutyrate (GPB) is approved in the US for the management of patients 2months of age and older with urea cycle disorders (UCDs) that cannot be managed with protein restriction and/or amino acid supplementation alone. Limited data exist on the use of nitrogen conjugation agents in very young patients. METHODS: Seventeen patients (15 previously on other nitrogen scavengers) with all types of UCDs aged 2months to 2years were switched to, or started, GPB...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28912414/polish-experience-with-liver-transplantation-and-post-transplant-outcomes-in-children-with-urea-cycle-disorders
#2
Edyta Szymańska, Piotr Kaliciński, Joanna Pawłowska, Sylwia Szymańska, Maciej Pronicki, Marek Stefanowicz, Joanna Teisseyre, Dorota Broniszczak, Dariusz Rokicki
BACKGROUND Liver transplantation (LT) is recommended for various metabolic diseases, including urea cycle disorders (UCDs). The aim of this study was to determine indications and outcomes of LT for UCDs in the tertiary reference Children's Hospital in Warsaw, Poland. MATERIAL AND METHODS Medical charts of children with UCD who underwent LT between 2008 and July 2016 were retrospectively reviewed. The following parameters were analyzed: symptoms at time of diagnosis, age at diagnosis, age at transplantation, graft characteristics and survival, postsurgical complications, and biochemical and laboratory results before and after transplantation...
September 15, 2017: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/28900784/liver-involvement-in-urea-cycle-disorders-a-review-of-the-literature
#3
REVIEW
Adrien Bigot, Michel C Tchan, Benjamin Thoreau, Hélène Blasco, François Maillot
Urea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients leads to a better knowledge of the long-term natural history of the condition and to the reporting of previously unnoticed manifestations. Despite historical evidence of liver involvement in UCDs, little attention has been paid to this organ until recently. Hence, we reviewed the available scientific evidence on acute and chronic liver dysfunction and liver carcinogenesis in UCDs and discuss their pathophysiology...
September 12, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28892883/a-case-of-hyperargininaemia-presenting-at-unusually-low-age
#4
Vanita Lal, Daisy Khera, Garima Gupta, Kuldeep Singh, Praveen Sharma
Arginase or ARG1 gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia. Here, we discuss a rare case of a 13-month-old female, having Severe Acute Malnutrition (SAM) and failure to thrive, with serial high plasma ammonia, normal plasma lactate with high arginine and glutamine levels on Amino Acid Assay (AAA) which was performed on 1220 Agilent HPLC. She was admitted for about a month and eventually succumbed to her ailment after a month of discharge...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28888854/quantitation-of-phenylbutyrate-metabolites-by-uplc-ms-ms-demonstrates-inverse-correlation-of-phenylacetate-phenylacetylglutamine-ratio-with-plasma-glutamine-levels
#5
Yi Jiang, Mohammed Almannai, V Reid Sutton, Qin Sun, Sarah H Elsea
Urea cycle disorders (UCDs) are genetic conditions characterized by nitrogen accumulation in the form of ammonia and caused by defects in the enzymes required to convert ammonia to urea for excretion. UCDs include a spectrum of enzyme deficiencies, namely n-acetylglutamate synthase deficiency (NAGS), carbamoyl phosphate synthetase I deficiency (CPS1), ornithine transcarbamylase deficiency (OTC), argininosuccinate lyase deficiency (ASL), citrullinemia type I (ASS1), and argininemia (ARG). Currently, sodium phenylbutyrate and glycerol phenylbutyrate are primary medications used to treat patients with UCDs, and long-term monitoring of these compounds is critical for preventing drug toxic levels...
August 31, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28877826/clinical-analysis-of-unicentric-castleman-s-disease-with-paraneoplastic-pemphigus-and-bronchiolitis-obliterans
#6
Jun-Feng Zhen, Lu Zhang, Xin-Xin Cao, Jun Feng, Dao-Bin Zhou, Song-Bai Lin, Jian Li
Objective To investigate the clinical features of unicentric Castleman's disease(UCD)with paraneoplastic pemphigus(PNP)and bronchiolitis obliterans(BO).Method Data of UCD patients with PNP and BO from Peking Union Medical College Hospital were retrospectively analyzed,along with literatures review. Results Totally 23 cases(11 males and 12 females)were enrolled.The median age was 31 years(13-56 years).The most common pathological type was hyaline-vascular variant(91.4%),and most tumors located in abdominopelvic cavity(69...
August 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28845542/cofactors-associated-with-sudden-acquired-retinal-degeneration-syndrome-151-dogs-within-a-reference-population
#7
Candace R Auten, Sara M Thomasy, Philip H Kass, Kathryn L Good, Steven R Hollingsworth, David J Maggs
OBJECTIVE: To determine factors associated with sudden acquired retinal degeneration syndrome (SARDS) diagnosed within one referral population. ANIMALS STUDIED: 151 dogs diagnosed with SARDS. PROCEDURES: Breed, age, sex, and body weight were compared between dogs with electroretinogram-confirmed SARDS and dogs presented to the UC Davis Veterinary Medical Teaching Hospital (UCD-VMTH) from 1991 to 2014. RESULTS: SARDS was diagnosed in 151 dogs, representing 1...
August 27, 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/28752144/is-there-any-relationship-between-low-papp-a-levels-and-measures-of-umbilical-vein-and-placental-thickness-during-first-trimester-of-pregnancy
#8
Gulsum Uysal, Sadan Tutus, Fulya Cagli, Cevdet Adiguzel
OBJECTIVE: Low pregnancy-associated plasma protein A (PAPP-A) level is associated with adverse perinatal outcomes. The purpose of this study was to evaluate relationship between umbilical cord diameter (UCD), umbilical vein and artery diameters (UVD, UAD), placental thickness, and PAPP-A level at gestational age of between 11 and 14 weeks. METHODS: UCD, UVD, UAD, and placental thickness of 246 women were assessed during ultrasound examination at between 11 and 14 weeks of gestation, as well as measurement of nuchal translucency (NT) and crown-rump length (CRL)...
2017: Northern Clinics of Istanbul
https://www.readbyqxmd.com/read/28725569/psychiatric-adult-onset-of-urea-cycle-disorders-a-case-series
#9
Adrien Bigot, Paul Brunault, Christian Lavigne, François Feillet, Sylvie Odent, Elsa Kaphan, Christel Thauvin, Vanessa Leguy, Pierre Broué, Michel C Tchan, François Maillot
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe the characteristics of patients presenting with a psychiatric adult-onset of UCDs, to discuss which signs could suggest this diagnosis in such a situation, and to determine which tests should be conducted. A survey of psychiatric symptoms occurring in teenagers or adults with UCD was conducted in 2010 among clinicians involved in the French society for the study of inborn errors of metabolism (SFEIM)...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28709037/finite-element-analysis-and-clinical-complications-in-mandibular-implant-overdentures-opposing-maxillary-dentures
#10
Tameem Khuder, Norsiah Yunus, Eshamsul Sulaiman, Ali Dabbagh
Denture fracture is a common clinical complication caused by improper material selection, design, or fabrication technique. This study aimed to investigate the effect of two attachment systems on fracture risk of the implant-overdentures (IOD) via finite element analysis (FEA), using the force distributions obtained from patients' occlusal analyses and to compare the obtained results with the clinical complications associated with these attachments. A three-dimensional jaw model comprised of the edentulous bones was constructed...
July 4, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28643185/keeping-disability-in-mind-a-case-study-in-implantable-brain-computer-interface-research
#11
Laura Specker Sullivan, Eran Klein, Tim Brown, Matthew Sample, Michelle Pham, Paul Tubig, Raney Folland, Anjali Truitt, Sara Goering
Brain-Computer Interface (BCI) research is an interdisciplinary area of study within Neural Engineering. Recent interest in end-user perspectives has led to an intersection with user-centered design (UCD). The goal of user-centered design is to reduce the translational gap between researchers and potential end users. However, while qualitative studies have been conducted with end users of BCI technology, little is known about individual BCI researchers' experience with and attitudes towards UCD. Given the scientific, financial, and ethical imperatives of UCD, we sought to gain a better understanding of practical and principled considerations for researchers who engage with end users...
June 22, 2017: Science and Engineering Ethics
https://www.readbyqxmd.com/read/28629683/the-relationship-between-dietary-intake-growth-and-body-composition-in-inborn-errors-of-intermediary-protein-metabolism
#12
Maureen Evans, Helen Truby, Avihu Boneh
OBJECTIVES: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes. STUDY DESIGN: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected...
September 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28619060/incidence-disease-onset-and-short-term-outcome-in-urea-cycle-disorders-cross-border-surveillance-in-germany-austria-and-switzerland
#13
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F Hoffmann, Beate Heinrich, Florian Gleich, Sven F Garbade
BACKGROUND: Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifestation and short-term outcome. METHOD: Cross-border surveillance of newly diagnosed patients with UCDs - below 16 years of age - was performed from July 2012 to June 2015 in Germany and Austria and from January 2012 to December 2015 in Switzerland...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28608518/liver-transplantation-may-prevent-neurodevelopmental-deterioration-in-high-risk-patients-with-urea-cycle-disorders
#14
Jun Kido, Shirou Matsumoto, Ken Momosaki, Rieko Sakamoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura
UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT...
September 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28599814/translating-research-into-practice-through-user-centered-design-an-application-for-osteoarthritis-healthcare-planning
#15
Eloise Cj Carr, Julie N Babione, Deborah Marshall
OBJECTIVE: To identify the needs and requirements of the end users, to inform the development of a user-interface to translate an existing evidence-based decision support tool into a practical and usable interface for health service planning for osteoarthritis (OA) care. MATERIALS AND METHODS: We used a user-centered design (UCD) approach that emphasized the role of the end-users and is well-suited to knowledge translation (KT). The first phase used a needs assessment focus group (n=8) and interviews (n=5) with target users (health care planners) within a provincial health care organization...
August 2017: International Journal of Medical Informatics
https://www.readbyqxmd.com/read/28548606/anatomical-recruitment-of-spinal-v2a-interneurons-into-phrenic-motor-circuitry-after-high-cervical-spinal-cord-injury
#16
Lyandysha V Zholudeva, Jordyn S Karliner, Kimberly J Dougherty, Michael A Lane
More than half of all spinal cord injuries (SCIs) occur at the cervical level, often resulting in impaired respiration. Despite this devastating outcome, there is substantial evidence for endogenous neuroplasticity after cervical SCI. Spinal interneurons are widely recognized as being an essential anatomical component of this plasticity by contributing to novel neuronal pathways that can result in functional improvement. The identity of spinal interneurons involved with respiratory plasticity post-SCI, however, has remained largely unknown...
June 29, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28540095/rituximab-monotherapy-in-the-management-of-a-rare-case-of-an-hiv-associated-lymphoproliferative-disorder
#17
Jason Hew, Fauzia Rana, Louise Zhou
Background. Castleman's disease (CD), also known as angiofollicular node hyperplasia, is a rare heterogenous lymphoproliferative disorder. This disease exists as two distinct entities: a localized or unicentric CD (UCD) which has a more benign clinical course and multicentric CD (MCD) which is a systemic disease and carries a worse prognosis. MCD is often associated with human immunodeficiency virus (HIV) infection and these patients are usually coinfected with human herpes virus-8 (HHV-8). Rituximab is an anti-CD20 monoclonal antibody that has become integral to the management of this disease...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28497297/assessing-the-influence-of-different-plant-species-in-drainage-ditches-on-mitigation-of-non-point-source-pollutants-n-p-and-sediments-in-the-purple-sichuan-basin
#18
Mathieu Nsenga Kumwimba, Bo Zhu, Diana Kavidia Muyembe
Three different types of ditches, each 300 m in length, were employed in this study. One vegetated constructed ditch (VCD), three natural vegetated soil ditches (NVSD), and three constructed ditches left unvegetated (UCD) as controls were investigated using simple in/out mass balances and uptake by plant species with a potential for phytoremediation and their mechanisms. Significant differences in the ditches were observed, suggesting the importance of plant species in nutrient mitigation. The removal rates of TN (total nitrogen) and TP (total phosphorus) were 64...
June 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/28492150/selective-screening-for-organic-acidurias-and-amino-acidopathies-in-pakistani-children
#19
Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years. STUDY DESIGN: Retrospective Observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014. METHODOLOGY: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28479542/meeting-end-user-needs-in-collaborative-medical-device-technology-development-research-projects-a-qualitative-case-study
#20
Frode Strisland, Ingrid Storruste Svagård, Hanne Opsahl Austad, Jarl Reitan
The aim of this case study has been to investigate to what extent user centered design (UCD) methodologies have been applied, how the process and outcomes were perceived by project team members, and what were potential barriers towards meeting end user needs. The case studied was the European Union Framework 7 integrated project d-LIVER (2011-2015), which aimed at developing an integrated care system for chronic liver disease patient management. d-LIVER is an example of a public funded, international, multidisciplinary, collaborative research project where development starts from a low technology readiness level, but where research is motivated by societal needs for better health care solutions...
2017: Studies in Health Technology and Informatics
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