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https://www.readbyqxmd.com/read/29042916/the-proposal-of-paediatric-virology-and-its-perspectives-an-interview-with-professor-of-paediatrics-maria-theodoridou
#1
Ioannis N Mammas, Demetrios A Spandidos
Professor Maria Theodoridou, Emeritus Professor of Paediatrics at the University of Athens, is one of the few paediatricians in Greece, who have experienced almost all the infectious diseases of the second half of the 20th century and their severe consequences, prior to the widespread adoption of immunisations. A milestone during her career was the establishment of a specialised National Reference Unit for the care of paediatric patients with acquired immune deficiency syndrome (AIDS) at the 'Aghia Sophia' Children's Hospital in Athens, Greece...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29031750/the-urge-to-move-and-breathe-the-impact-of-obstructive-sleep-apnea-syndrome-treatment-in-patients-with-previously-diagnosed-clinically-significant-restless-legs-syndrome
#2
Cristiana Silva, Ana Rita Peralta, Carla Bentes
OBJECTIVE: The association between restless legs syndrome (RLS) and obstructive sleep apnea syndrome (OSAS) has seldom been reported. There is one study reporting improvement of RLS symptoms severity in patients naive of treatment after initiation of continuous positive airway pressure (CPAP) for OSAS. The aim of this study was to evaluate the impact of the OSAS treatment in patients with previously diagnosed, clinically significant RLS in a usual clinical setting. METHODS: This was a retrospective study of RLS patients from a sleep clinic with a concomitant or subsequent diagnosis of OSAS...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29030698/biliary-atresia-and-liver-transplantation-results-and-thoughts-for-primary-liver-transplantation-in-select-patients
#3
REVIEW
Riccardo Superina
Biliary atresia (BA) is one of the most common indications for liver transplantation in children. Despite advances in biliary atresia surgical techniques, most children will ultimately require liver transplantation. Possible pre-operative predictors of outcome after the Kasai operation are: 1. Age at operation 2. Presence of the biliary atresia splenic malformation syndrome (BASM) 3. Center specific factors 4. Liver histology and 5. Anatomic pattern of bile ducts found at surgery.Age at surgery is considered a strong predictor of success after portoenterostomy...
October 13, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29019980/radically-truncated-mecp2-rescues-rett-syndrome-like-neurological-defects
#4
Rebekah Tillotson, Jim Selfridge, Martha V Koerner, Kamal K E Gadalla, Jacky Guy, Dina De Sousa, Ralph D Hector, Stuart R Cobb, Adrian Bird
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine. Functionally, MeCP2 has been implicated in several cellular processes on the basis of its reported interaction with more than 40 binding partners, including transcriptional co-repressors (for example, the NCoR/SMRT complex), transcriptional activators, RNA, chromatin remodellers, microRNA-processing proteins and splicing factors...
October 11, 2017: Nature
https://www.readbyqxmd.com/read/29019641/spine-conditions-lumbar-spinal-stenosis
#5
Steven D Trigg, Zachary Devilbiss
Lumbar spinal stenosis (LSS) is a frequent cause of chronic low back and lower extremity pain in older patients. Symptomatic LSS typically is described as neurogenic claudication consisting of pain, weakness, numbness, and/or fatigue arising in the back and radiating into the buttock, thigh, or lower leg. The diagnosis is complicated by lack of reliable clinical or x-ray criteria. North American Spine Society guidelines recommend magnetic resonance imaging study without contrast to confirm anatomic narrowing of the spinal canal or nerve root impingement...
October 2017: FP Essentials
https://www.readbyqxmd.com/read/29019631/disparities-in-life-course-outcomes-for-transition-aged-youth-with-disabilities
#6
Kruti Acharya, Regina Meza, Michael E Msall
Close to 750,000 youth with special health care needs transition to adult health care in the United States every year; however, less than one-half receive transition-planning services. Using the "F-words" organizing framework, this article explores life course outcomes and disparities in transition-aged youth with disabilities, with a special focus on youth with autism, Down syndrome, and cerebral palsy. Despite the importance of transition, a review of the available literature revealed that (1) youth with disabilities continue to have poor outcomes in all six "F-words" domains (ie, function, family, fitness, fun, friends, and future) and (2) transition outcomes vary by race/ethnicity and disability...
October 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29017490/germline-mutation-within-col2a1-associated-with-lethal-chondrodysplasia-in-a-polled-holstein-family
#7
Sina Reinartz, Hartmut Mohwinkel, Christian Sürie, Maren Hellige, Karsten Feige, Deborah Eikelberg, Andreas Beineke, Julia Metzger, Ottmar Distl
BACKGROUND: The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experimental farm Ruthe (LuFG Ruthe) supported the assumption of a germline mutation with a mosaic of normal and defective sperm. RESULTS: All three malformed calves were examined using necropsy, histopathology and computed tomography scanning...
October 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28971695/valbenazine-for-the-treatment-of-tardive-dyskinesia
#8
Thomas Müller
Introduction Chronic intake of typical neuroleptics or centrally acting dopamine receptor blocking antiemetics may cause onset of tardive syndromes. Various types exist. One of them is tardive dyskinesia, characterised by often stigmatising, purposeless, rapid, repetitive, stereotypic, involuntary movements of face, limbs or trunk. Effective symptomatic drug treatment options beyond application of tetrabenazine are rare. Tetrabenazine is usually administered three times daily due to the short half life of this agent...
October 3, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28971161/controversies-in-the-differential-diagnosis-of-brown-sequard-syndrome-due-to-cervical-spinal-disease-from-stroke-a-case-series
#9
REVIEW
Vaner Koksal, Ozcan Yavasi
Stroke is generally considered to be the first preliminary diagnosis in patients presenting with acute hemiparesia in the emergency department. But rarely in unexpected spontaneous neurological pathologies that may lead to hemiparesis. The data from 8 non-traumatic patients who underwent surgical treatment for brown-sequard syndrome (BSS) were reviewed retrospectively. All patients were initially misdiagnosed with strokes. Two of the patients had spinal canal stenosis, two had spinal epidural hematomas, one had an ossified herniated disc and three had soft herniated discs...
September 2017: Turkish Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28968191/the-genetics-of-pain-implications-for-therapeutics
#10
Jane E Sexton, James J Cox, Jing Zhao, John N Wood
Pain is an increasing clinical challenge affecting about half the population, with a substantial number of people suffering daily intense pain. Such suffering can be linked to the dramatic rise in opioid use and associated deaths in the United States. There is a pressing need for new analgesics with limited side effects. Here, we summarize what we know about the genetics of pain and implications for drug development. We make the case that chronic pain is not one but a set of disease states, with peripheral drive a key element in most...
October 2, 2017: Annual Review of Pharmacology and Toxicology
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#11
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
September 26, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28967076/aflibercept-in-the-management-of-acute-retinal-necrosis-syndrome-related-macular-edema
#12
Leticia Ortega-Evangelio, Javier Navarrete-Sanchis, Basil K Williams, Juan Miguel Tomás-Torrent
PURPOSE: Acute retinal necrosis (ARN) is a panuveitis syndrome that may lead to severe complications such as cystoid macular edema (CME). There is no consensus about the best treatment. We report one case of CME secondary to ARN managed with intravitreal aflibercept. CASE REPORT: A 41-year-old woman with a history of successfully treated varicella-zoster virus-associated ARN developed an epiretinal membrane (ERM) and underwent pars plana vitrectomy, ERM removal, inner limiting membrane peel, and lensectomy...
September 14, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28954837/clinical-laboratory-and-molecular-findings-and-long-term-follow-up-data-in-96-french-patients-with-pmm2-cdg-phosphomannomutase-2-congenital-disorder-of-glycosylation-and-review-of-the-literature
#13
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay
BACKGROUND: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. OBJECTIVES: To better characterise the natural history of PMM2-CDG. METHODS: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at last examination were reported for 25 patients...
September 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28941627/-childhood-steroid-dependent-idiopathic-nephrotic-syndrome-predictive-factors-for-the-need-of-immunosuppressive-treatment
#14
M Golay, A Douillard, N Nagot, M Fila, L Ichay, F Dalla Vale, J Tenenbaum, D Morin
BACKGROUND AND AIMS: More than half of the children with idiopathic nephrotic syndrome become steroid-dependent (or frequent relapsers) and will later require the use of complementary treatment aiming to reduce steroids' side effects and to limit the number of proteinuria relapses. It appears important to identify these children as early as possible in order to adapt their treatment. The aim of this study was to analyze the population of children, under 18 years of age, diagnosed between 1/01/2000 and 31/05/2015 with an idiopathic nephrotic syndrome and followed at the Montpellier University Hospital to search for criteria predictive of steroid-sparing agent use...
September 20, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28937771/urinary-metabolic-phenotyping-of-women-with-lower-urinary-tract-symptoms
#15
Rhiannon Bray, Stefano Cacciatore, Beatriz Jimenez, Rufus Cartwright, Alex Digesu, Ruwan Fernando, Elaine Holmes, Jeremy Kirk Nicholson, Phillip R Bennett, David A MacIntyre, Vik Khullar
Lower urinary tract symptoms (LUTS), including urinary incontinence, urgency and nocturia, affect approximately half of women worldwide. Current diagnostic methods for LUTS are invasive and costly, while available treatments are limited by side effects leading to poor patient compliance. In this study, we aimed to identify urine metabolic signatures associated with LUTS using proton nuclear magnetic resonance ((1)H-NMR) spectroscopy. A total of 214 urine samples were collected from women attending tertiary urogynaecology clinics (cases; n=176) and healthy control women attending general gynecology clinics (n=36)...
September 22, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28935298/physician-burnout-are-we-treating-the-symptoms-instead-of-the-disease
#16
John J Squiers, Kevin W Lobdell, James I Fann, J Michael DiMaio
Despite increasing recognition of physician burnout, its incidence has only increased in recent years, with nearly half of physicians suffering from symptoms of burnout in the most recent surveys. Unfortunately, most burnout research has focused on its profound prevalence rather than seeking to identify the root cause of the burnout epidemic. Health care organizations throughout the United States are implementing committees and support groups in an attempt to reduce burnout among their physicians, but these efforts are typically focused on increasing resilience and wellness among participants rather than combating problematic changes in how medicine is practiced by physicians in the current era...
October 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28931128/6-year-review-of-redivi-a-prospective-registry-of-imported-infectious-diseases-in-spain
#17
José A Pérez-Molina, Ana López-Polín, Begoña Treviño, Israel Molina, Josune Goikoetxea, Marta Díaz-Menéndez, Diego Torrús, Eva Calabuig, Agustín Benito, Rogelio López-Vélez
Background: Understanding and detecting imported diseases is a priority in the prevention and management of prevalent and emergent infectious diseases acquired abroad. The +Redivi network measures the burden of imported infections in Spain and is essential for closing the gap in travel medicine. Methods: Demographic characteristics, travel information, syndromes and confirmed travel-related diagnoses were registered in a standardised online database. Results: A total of 10 767 cases of imported infectious diseases were registered between October 2009 and December 2015...
September 1, 2017: Journal of Travel Medicine
https://www.readbyqxmd.com/read/28926132/prenatal-diagnosis-of-total-and-partial-anomalous-pulmonary-venous-connection-multicentre-cohort-study-and-meta-analysis
#18
REVIEW
Dario Paladini, Angela Pistorio, L H Wu, Gabriella Meccariello, Ting Lei, Giulia Tuo, Gloria Donarini, Maurizio Marasini, Hong-Ning Xie
OBJECTIVES: Aim of this study is to describe the sonographic features and associations of Total and Partial Anomalous Pulmonary Venous Connection (TAPVC, PAPVC) and scimitar syndrome (SS) and to review the relevant literature systematically in order to underline the associations and the sonographic features more frequently associated with these conditions. METHODOLOGY: Retrospective cohort study. Assessed variables include: TAPVC subtype, gestational age at diagnosis, area behind LA, ventricular disproportion, vertical vein, pulmonary venous obstruction, mode of diagnosis, association with cardiac and extra-cardiac conditions, pregnancy and feto-neonatal outcome...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28923628/role-of-coronary-angiography-in-pre-liver-transplantation-cardiac-evaluation-experience-from-an-asian-transplant-institution
#19
N Q Pang, W C A Kow, J H Law, L T T Pan, B L K Lim, C C R Wong, K Y S Chang, I S Ganpathi, K Madhavan
BACKGROUND: Liver transplant (LT) patients with significant coronary artery disease (CAD) have poorer outcomes. Pre-LT coronary angiography (CA) is associated with significant complications in cirrhotic patients. METHODS: This study aimed to identify predictors of abnormal CA in pre-LT cardiac assessment and to develop a predictive model to reduce unnecessary CA. From January 2006 to June 2013, 122 patients underwent CA based on the current institutional protocol...
October 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28919757/once-monthly-paliperidone-palmitate-in-early-stage-schizophrenia-a-retrospective-non-interventional-1-year-study-of-patients-with-newly-diagnosed-schizophrenia
#20
Robin Emsley, Ludger Hargarter, Paul Bergmans, Boran Uglešić, Abdullah Cem Sengül, Antonino Petralia, Angelina Khannanova, Pierre Cherubin, Andreas Schreiner
BACKGROUND: Long-acting antipsychotic therapy may be best suited for patients in the early stage of schizophrenia, when the most can be done before disease progression associated with poor adherence occurs. We explored the patterns of use of once-monthly paliperidone palmitate (PP1M), concomitant medication use, hospitalization, and clinical outcomes of adult, newly diagnosed patients with schizophrenia receiving continuous treatment with PP1M for at least 12 months. METHODS: This was an international, multicenter, exploratory, retrospective chart review of medical records of adult patients who were newly diagnosed (not more than 1 year before initiation of PP1M treatment) with schizophrenia and who had received continuous treatment with PP1M for ≥12 months in naturalistic clinical settings...
2017: Neuropsychiatric Disease and Treatment
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