keyword
MENU ▼
Read by QxMD icon Read
search

Williams syndrome

keyword
https://www.readbyqxmd.com/read/28229547/the-association-between-cytomegalovirus-infection-obesity-and-metabolic-syndrome-in-u-s-adult-females
#1
Shannon Fleck-Derderian, William McClellan, Janet M Wojcicki
OBJECTIVE: The purpose of this analysis was to determine whether cytomegalovirus (CMV) infection is associated with the prevalence of metabolic syndrome (MetS) and whether this relationship differs by BMI. METHODS: Data from the 1999-2004 National Health and Nutrition Examination Survey (NHANES) were pooled (N = 2,532). Logistic regression was used for assessing the association between CMV and MetS, stratified by gender and BMI, categorized as normal weight, overweight, obesity, and extreme obesity, and adjusted for age, race/ethnicity, and poverty level...
March 2017: Obesity
https://www.readbyqxmd.com/read/28229373/red-urinary-discolouration-following-hydroxocobalamin-treatment-for-vasoplegic-syndrome
#2
Matthew A Warner, William J Mauermann, Sarah Armour, David W Barbara
No abstract text is available yet for this article.
February 22, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28229087/modeling-williams-syndrome-with-induced-pluripotent-stem-cells
#3
Thanathom Chailangkarn, Alysson R Muotri
The development of induced pluripotent stem cells (iPSCs) like never before has opened novel opportunity to study diseases in relevant cell types. In our recent study, Williams syndrome (WS), a rare genetic neurodevelopmental disorder, that is caused by hemizygous deletion of 25-28 genes on chromosome 7, is of interest because of its unique cognitive and social profiles. Little is known about haploinsufficiency effect of those deleted genes on molecular and cellular phenotypes at the neural level due to the lack of relevant human cellular model...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28225383/severe-intellectual-disability-in-a-patient-with-burn-mckeown-syndrome
#4
Sonja Strang-Karlsson, Jill Urquhart, William G Newman, Sofia Douzgou
No abstract text is available yet for this article.
February 20, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28221950/multistate-outbreak-of-escherichia-coli-o157-h7-infections-associated-with-consumption-of-fresh-spinach-united-states-2006
#5
Umid M Sharapov, Arthur M Wendel, Jeffrey P Davis, William E Keene, Jeffrey Farrar, Samir Sodha, Eija Hyytia-Trees, Molly Leeper, Peter Gerner-Smidt, Patricia M Griffin, Chris Braden
During September to October, 2006, state and local health departments and the Centers for Disease Control and Prevention investigated a large, multistate outbreak of Escherichia coli O157:H7 infections. Case patients were interviewed regarding specific foods consumed and other possible exposures. E. coli O157:H7 strains isolated from human and food specimens were subtyped using pulsed-field gel electrophoresis and multiple-locus variable-number tandem repeat analyses (MLVA). Two hundred twenty-five cases (191 confirmed and 34 probable) were identified in 27 states; 116 (56%) case patients were hospitalized, 39 (19%) developed hemolytic uremic syndrome, and 5 (2%) died...
December 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28220525/dimethyl-sulfoxide-dmso-as-intravesical-therapy-for-interstitial-cystitis-bladder-pain-syndrome-a-review
#6
REVIEW
William F Rawls, Lindsey Cox, Eric S Rovner
AIMS: The purpose of this review is to update the current understanding of dimethyl sulfoxide (DMSO) and its role in the treatment of interstitial cystitis (IC). METHODS: A systematic review was conducted using the PRIMSA checklist to identify published articles involving intravesical DMSO for the treatment of IC. RESULTS: Thirteen cohort studies and three randomized-controlled trials were identified. Response rates relying on subjective measurement scores range from 61 to 95%...
February 21, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28220259/mutations-in-kiaa0753-cause-joubert-syndrome-associated-with-growth-hormone-deficiency
#7
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M Sinclair, Deniz Yildirimli, Dawn M Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Marjan Huizing, William A Gahl, May Christine V Malicdan, Meral Gunay-Aygun
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency...
February 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28218557/scandcleft-randomised-trials-of-primary-surgery-for-unilateral-cleft-lip-and-palate-7-occlusion-in-5-year-olds-according-to-the-huddart-and-bodenham-index
#8
Agneta Karsten, Agneta Marcusson, Kirsti Hurmerinta, Arja Heliövaara, Annelise Küseler, Pål Skaare, Haydn Bellardie, Elisabeth Rønning, William Shaw, Kirsten Mølsted, Paul Sæle, Eli Brinck, Sara Rizell, Midia Najal Chalier, Philip Eyres, Gunvor Semb
BACKGROUND AND AIM: Good dentofacial development and good occlusion are main goals in the treatment of UCLP. The aim was to evaluate dental occlusion at age 5 years with the Huddart and Bodenham index after four different protocols of primary surgery for UCLP. DESIGN: Three parallel randomised controlled trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. METHODS: Three different surgical procedures for primary palatal repair (Arms B, C, and D) were tested against a common procedure (Arm A) in the total cohort of 448 children born with non-syndromic UCLP...
February 2017: Journal of Plastic Surgery and Hand Surgery
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#9
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28213374/diurnal-differences-in-risk-of-cardiac-arrhythmias-during-spontaneous-hypoglycemia-in-young-people-with-type-1-diabetes
#10
Peter Novodvorsky, Alan Bernjak, Elaine Chow, Ahmed Iqbal, Lianne Sellors, Scott Williams, Robert A Fawdry, Bhavin Parekh, Richard M Jacques, Jefferson L B Marques, Paul J Sheridan, Simon R Heller
OBJECTIVE: Hypoglycemia may exert proarrhythmogenic effects on the heart via sympathoadrenal stimulation and hypokalemia. Hypoglycemia-induced cardiac dysrhythmias are linked to the "dead-in-bed syndrome," a rare, but devastating, condition. We examined the effect of nocturnal and daytime clinical hypoglycemia on electrocardiogram (ECG) in young people with type 1 diabetes. RESEARCH DESIGN AND METHODS: Thirty-seven individuals with type 1 diabetes underwent 96 h of simultaneous ambulatory ECG and blinded continuous interstitial glucose monitoring (CGM) while symptomatic hypoglycemia was recorded...
February 17, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#11
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28207573/genome-wide-analysis-of-clopidogrel-active-metabolite-levels-identifies-novel-variants-that-influence-antiplatelet-response
#12
Joshua D Backman, Jeffrey R O'Connell, Keith Tanner, Cody J Peer, William D Figg, Shawn D Spencer, Braxton D Mitchell, Alan R Shuldiner, Laura M Yerges-Armstrong, Richard B Horenstein, Joshua P Lewis
Clopidogrel is one of the most commonly used therapeutics for the secondary prevention of cardiovascular events in patients with acute coronary syndromes. However, considerable interindividual variation in clopidogrel response has been documented, resulting in suboptimal therapy and an increased risk of recurrent events for some patients. In this investigation, we carried out the first genome-wide association study of circulating clopidogrel active metabolite levels in 513 healthy participants to directly measure clopidogrel pharmacokinetics...
February 15, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28199736/impact-of-hormonal-contraception-and-weight-loss-on-hdl-c-efflux-and-lipoprotein-particles-in-women-with-polycystic-ovary-syndrome
#13
Anuja Dokras, Martin Playford, Penny M Kris-Etherton, Allen R Kunselman, Christy M Stetter, Nancy I Williams, Carol L Gnatuk, Stephanie J Estes, David B Sarwer, Kelly C Allison, Christos Coutifaris, Nehal Mehta, Richard S Legro
OBJECTIVE: To study the effects of oral contraceptive pills (OCP), the first line treatment for PCOS, on HDL-C function (reverse cholesterol efflux capacity) and lipoprotein particles measured by NMR spectroscopy. DESIGN: Secondary analysis of a randomized controlled trial (OWL-PCOS) of OCP or Lifestyle (intensive lifestyle modification) or Combined (OCP+Lifestyle) treatment for 16 weeks. PATIENTS: 87 overweight/obese women with PCOS at two academic centers...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28199203/neurogenetics-of-acute-and-chronic-opiate-opioid-abstinence-treating-symptoms-and-the-cause
#14
Kenneth Blum, Mark S Gold, William Jacobs, William Vaughn McCall, Marcelo Febo, David Baron, Kristina Dushaj, Zsolt Demetrovics, Rajendra D Badgaiyan
This review begins with a comprehensive history of opioid dependence and treatment in the United States. The focus is an evidence-based treatment model for opioid/opiate dependent individuals. The role of reward genetic polymorphisms and the epigenetic modifications that lead to vulnerability to use and misuse of opiates/opioid to treat pain are reviewed. The neurochemical mechanisms of acute opiate withdrawal and opiate/opioid reward mechanisms are explored with a goal of identifying specific treatment targets...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28199087/expression-purification-and-properties-of-a-human-arachidonoyl-specific-isoform-of-diacylglycerol-kinase
#15
William Jennings, Sejal Doshi, Prasanta Kumar Hota, Aaron Prodeus, Stephanie Black, Richard M Epand
Diacylglycerol kinase epsilon (DGKε) catalyzes the phosphorylation of diacylglycerol producing phosphatidic acid. DGKε demonstrates exquisite specificity for the acyl chains of diacylglycerol. This contributes to the specificity of the PI-cycle for lipid intermediates containing particular acyl chains. Dysregulation of DGKε perturbs lipid signaling and biosynthesis, which has been linked to epilepsy, Huntington's disease and heart disease. Recessive loss-of-function mutations in the DGKε gene cause atypical hemolytic uremic syndrome...
February 15, 2017: Biochemistry
https://www.readbyqxmd.com/read/28195387/baseline-adiponectin-concentration-and-clinical-outcomes-among-patients-with-diabetes-and-recent-acute-coronary-syndrome-in-the-examine-trial
#16
Brian A Bergmark, Christopher P Cannon, William B White, Petr Jarolim, Yuyin Liu, Marc P Bonaca, Faiez Zannad, David A Morrow
INTRODUCTION: Adiponectin is a pleiotropic adipocytokine with a strong inverse (protective) association with obesity, diabetes, and cardiovascular outcomes in stable patients. However, this relationship may be reversed in the setting of acute coronary syndrome (ACS). Given this possible complex relationship, we investigated adiponectin and cardiovascular (CV) outcomes in patients with diabetes and recent ACS. MATERIALS AND METHODS: We analyzed baseline adiponectin concentration and CV outcomes in 5,213 patients with type 2 diabetes enrolled 15-90 days (median 45 days) after ACS in the EXAMINE trial of alogliptin vs placebo...
February 14, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28195177/prevalence-of-nonalcoholic-steatohepatitis-associated-cirrhosis-in-the-united-states-an-analysis-of-national-health-and-nutrition-examination-survey-data
#17
Mohammad Nasser Kabbany, Praveen Kumar Conjeevaram Selvakumar, Kymberly Watt, Rocio Lopez, Zade Akras, Nizar Zein, William Carey, Naim Alkhouri
OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD) includes a wide spectrum of manifestations ranging from nonalcoholic fatty liver (NAFL) to nonalcoholic steatohepatitis (NASH), fibrosis and eventually cirrhosis. The prevalence of NAFLD has been shown to be increasing over time; however, the prevalence of NASH cirrhosis and advanced fibrosis over time has not been well studied. Estimate the changes in prevalence of NASH cirrhosis and NAFLD-associated advanced fibrosis among adults in the United States...
February 14, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28193741/coinfection-of-leishmania-guyanensis-and-human-immunodeficiency-virus-acquired-immune-deficiency-syndrome-report-of-a-case-of-disseminated-cutaneous-leishmaniasis-in-ecuador
#18
Manuel Calvopina, Cristina Aguirre, William Cevallos, Alberto Castillo, Ibrahim Abbasi, Alon Warburg
Reported herein is the first case of Leishmania-human immunodeficiency virus (HIV) coinfection in Ecuador. In Ecuador, HIV infections overlap endemic areas of leishmaniasis. Immunosuppression is a well-established risk factor for developing severe disease. This is a severe case of a 32-year-old man presenting with disseminated pleomorphic ulcers, papules, and cutaneous plaque-like lesions over his whole body. Numerous amastigotes were observed in both skin scrapings and biopsies. The sequence of the cytochrome b gene confirmed the presence of Leishmania guyanensis The patient was treated but failed to respond to meglumine antimoniate and amphotericin B...
February 13, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28192621/orthopaedic-management-of-the-ehlers-danlos-syndromes
#19
William B Ericson, Roger Wolman
The role of orthopedic surgery in Ehlers-Danlos syndrome is inherently controversial, opaque to most patients and many medical providers, and difficult to discern from available medical literature. Non-operative treatment is preferable, but for carefully selected patients, specific joint stabilization and nerve decompression procedures can provide symptomatic relief when conservative measures fail. © 2017 Wiley Periodicals, Inc.
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28192196/quantification-of-various-app-mrna-isoforms-and-epistasis-in-lesch-nyhan-disease
#20
Khue Vu Nguyen, William L Nyhan
The present work is the development of a simple and specific kinetic method based on RT-PCR technique coupled with direct sequencing for quantification of various amyloid precursor protein-mRNA isoforms (APP-mRNA isoforms) in biological samples, especially for identifying the most abundant one that may decisive for the normal status or disease risk. Application of this kinetic method to the Lesch-Nyhan disease (LND) was performed and results indicated an epistasis between mutated hypoxanthine phosphoribosyltransferase1 (HPRT1) and APP genes...
February 10, 2017: Neuroscience Letters
keyword
keyword
74483
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"