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https://www.readbyqxmd.com/read/29164930/relapse-risk-assessment-for-schizophrenia-patients-rasp-a-new-self-report-screening-tool
#1
Dawn Velligan, William Carpenter, Heidi C Waters, Nicole M Gerlanc, Susan N Legacy, Charles Ruetsch
OBJECTIVES: The Relapse Assessment for Schizophrenia Patients (RASP) was developed as a 6- question self-report screener that measures indicators of Increased Anxiety and Social Isolation to assess patient stability and predict imminent relapse. This paper describes the development and psychometric characteristics of the RASP. METHODS: The RASP and Positive and Negative Syndrome Scale (PANSS) were administered to patients with schizophrenia (N=166) 3 separate times...
November 22, 2017: Clinical Schizophrenia & related Psychoses
https://www.readbyqxmd.com/read/29164439/brief-report-major-depressive-disorder-with-psychotic-features-in-williams-syndrome-a-case-series
#2
Francisca Valdes, Christopher J Keary, Jennifer E Mullett, Michelle L Palumbo, Jessica L Waxler, Barbara R Pober, Christopher J McDougle
Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously unreported adults with WS diagnosed with co-morbid MDD with psychotic features. Co-morbid medical disorders common in WS are highlighted with regard to safe and appropriate pharmacological treatment...
November 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29163488/late-onset-cryopyrin-associated-periodic-syndromes-caused-by-somatic-nlrp3-mosaicism-uk-single-center-experience
#3
Dorota M Rowczenio, Sónia Melo Gomes, Juan I Aróstegui, Anna Mensa-Vilaro, Ebun Omoyinmi, Hadija Trojer, Anna Baginska, Alberto Baroja-Mazo, Pablo Pelegrin, Sinisa Savic, Thirusha Lane, Rene Williams, Paul Brogan, Helen J Lachmann, Philip N Hawkins
Cryopyrin-associated periodic syndrome (CAPS) is caused by gain-of-function NLRP3 mutations. Recently, somatic NLRP3 mosaicism has been reported in some CAPS patients who were previously classified as "mutation-negative." We describe here the clinical and laboratory findings in eight British adult patients who presented with symptoms typical of CAPS other than an onset in mid-late adulthood. All patients underwent comprehensive clinical and laboratory investigations, including analysis of the NLRP3 gene using Sanger and amplicon-based deep sequencing (ADS) along with measurements of extracellular apoptosis-associated speck-like protein with CARD domain (ASC) aggregates...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29163331/the-mobility-assessment-course-for-the-diagnosis-of-spatial-neglect-taking-a-step-forward
#4
Megan Grech, Tracey Stuart, Lindy Williams, Celia Chen, Tobias Loetscher
Spatial neglect after stroke can be a challenging syndrome to diagnose under standard neuropsychological assessment. There is now sufficient evidence that those affected might demonstrate neglect behavior in everyday settings despite showing no signs of neglect during common neglect tasks. This discrepancy is attributed to the simplified and unrealistic nature of common pen and paper based tasks that do not match the demanding, novel, and complex environment of everyday life. As such, increasing task demands under more ecologically valid scenarios has become an important method of increasing test sensitivity...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29162604/suppression-of-hepatic-flot1-flotillin-1-by-type-2-diabetes-mellitus-impairs-the-disposal-of-remnant-lipoproteins-via-syndecan-1
#5
Keyang Chen, Qingsi Wu, Kongwang Hu, Chengwei Yang, Xiangdong Wu, Peter Cheung, Kevin Jon Williams
OBJECTIVE: Type 2 diabetes mellitus (T2DM) and the atherometabolic syndrome exhibit a deadly dyslipoproteinemia that arises in part from impaired hepatic disposal of C-TRLs (cholesterol- and triglyceride-rich remnant apoB [apolipoprotein B] lipoproteins). We previously identified syndecan-1 as a receptor for C-TRLs that directly mediates endocytosis via rafts, independent from coated pits. Caveolins and flotillins form rafts but facilitate distinct endocytotic pathways. We now investigated their participation in syndecan-1-mediated disposal of C-TRLs and their expression in T2DM liver...
November 21, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29160590/corrigendum-expression-of-nad-p-h-quinone-dehydrogenase-1-nqo1-is-increased-in-the-endometrium-of-women-with-endometrial-cancer-and-women-with-polycystic-ovary-syndrome
#6
William Atiomo, Mohamad Nasir Shafiee, Caroline Chapman, Veronika M Metzler, Jad Abouzeid, Ayşe Latif, Amy Chadwick, Sarah Kitson, Vanitha N Sivalingam, Ian J Stratford, Catrin S Rutland, Jenny L Persson, Niels Ødum, Pablo Fuentes-Utrilla, Jennie N Jeyapalan, David M Heery, Emma J Crosbie, Nigel P Mongan
No abstract text is available yet for this article.
December 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29157501/evaluation-and-management-of-autoimmune-encephalitis-a-clinical-overview-for-the-practicing-child-psychiatrist
#7
REVIEW
GenaLynne C Mooneyham, William Gallentine, Heather Van Mater
Medical conditions that present with psychiatric symptoms are becoming increasingly well-recognized in response to the emergence of the field of neuroimmunology. As the availability of testing for novel antineuronal antibodies has increased, so too has the clinical awareness of this diagnostic spectrum. Psychiatrists may have little exposure to this area of expertise, yet may be called on to assist in the diagnosis and treatment of patients with complex neuropsychiatric syndromes secondary to autoimmune encephalitis...
January 2018: Child and Adolescent Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/29156449/nutrition-in-the-management-of-gastrointestinal-diseases-and-disorders-the-evidence-for-the-low-fodmap-diet
#8
REVIEW
Shanti Eswaran, Jeremy P Farida, Jessica Green, Jesse D Miller, William D Chey
A growing interest from both physicians and patients is fueling research in the interaction of symptoms related to irritable bowel syndrome (IBS) and diet, particularly the low FODMAP diet. Recent studies further define the role of these short-chain fermentable carbohydrates on IBS symptoms and their effects in different parts of the gastrointestinal tract. Mounting evidence supports the use of a low FODMAP diet in the clinical setting, but this dietary approach is not without potential drawbacks. This review illustrates the mechanisms by which the low FODMAP diet leads to improvement in IBS symptoms, summarizes the available clinical evidence, and offers practical advice regarding implementation of this dietary strategy...
November 17, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/29155871/correction-sequence-homology-at-the-breakpoint-and-clinical-phenotype-of-mitochondrial-dna-deletion-syndromes
#9
Bekim Sadikovic, Jing Wang, Ayman W El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K Brundage, William J Craigen, Eric S Schmitt, Lee-Jun C Wong
[This corrects the article DOI: 10.1371/journal.pone.0015687.].
2017: PloS One
https://www.readbyqxmd.com/read/29153664/microcirculatory-blood-flow-derangements-during-severe-preeclampsia-and-hellp-syndrome
#10
Gustavo Adolfo Ospina-Tascón, Albaro José Nieto Calvache, Edgardo Quiñones, Humberto José Madriñan, Juan David Valencia, William Fernando Bermúdez, Javier Carvajal, María Fernanda Escobar, Daniel de Backer
OBJECTIVE: To evaluate the microcirculatory blood flow in severe preeclampsia and compare it with healthy pregnant and non-pregnant women controls, using a portable intravital-microscopy technique. METHODS: Using a side-stream dark field (SDF) device, we prospectively evaluated the sublingual microcirculatory blood flow before placental delivery in 40 women with severe preeclampsia (PE-group) complicated (n=8) or not (n=32) with HELLP syndrome, 40 healthy pregnant women (HP-group) matched by gestational and chronological age, and 20 healthy non-pregnant women (NP-group)...
October 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29153556/fatty-acids-in-nephrotic-syndrome-and-chronic-kidney-disease
#11
REVIEW
Stefano Turolo, Alberto Edefonti, Marie Louise Syren, Franca Marangoni, William Morello, Carlo Agostoni, Giovanni Montini
The role of fatty acids (FAs) in inflammation and in the related chronic diseases has been demonstrated. However, there is a lack of consistent and agreed knowledge about the role of FA profile and renal physiology and pathology, most articles focusing on the effect of polyunsaturated FAs supplementation, without considering the impact of basal FA metabolism on the efficacy of the supplementation. Here, we have summarized the specific literature concerning the assessment of circulating FA in 2 renal diseases, namely nephrotic syndrome and chronic kidney disease, also under hemodialytic treatment, and have received the most significant contributions in the last years...
November 16, 2017: Journal of Renal Nutrition
https://www.readbyqxmd.com/read/29153427/does-a-mobile-ecls-program-reduce-mortality-for-patients-transported-for-ecls-therapy-for-severe-acute-respiratory-failure
#12
Jacob T Gutsche, Todd A Miano, William Vernick, Jesse Raiten, Christian Bermudez, Prashant Vallabjoysula, Karianna Milewski, Wilson Szeto, Meghan Lane Fall, Matthew L Williams, Prakash Patel, Mark E Mikkelsen, Cornel Chiu, Harish Ramakrishna, Jeremy Canon, John G Augoustides
OBJECTIVE: To understand if mobile extracorporeal membrane oxygenation reduces patient mortality during and after transport of patients requiring extracorporeal membrane oxygenation for acute respiratory distress syndrome. DESIGN: Retrospective chart review. SETTING: University affiliated tertiary care hospitals. PARTICIPANTS: Seventy-seven patients. INTERVENTIONS: Introduction of a mobile extracorporeal membrane oxygenation (ECMO) program designed to facilitate the implementation of ECMO at outside hospitals in patients too unstable for transport for ECMO...
September 2, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29153072/smoking-abstinence-twelve-months-after-an-acute-coronary-syndrome
#13
Vânia Rocha, Marina P Guerra, Marina S Lemos, Júlia Maciel, Geoffrey C Williams
Studies on the cognitive working mechanism of smoking cessation in high-risk populations are few and much needed, and identifying long-term psychosocial factors to smoking cessation are relevant to improve intervention for cardiac patient groups. This longitudinal study followed patients who smoked and suffered an acute coronary syndrome from hospitalization to 12 months after clinical discharge. Questionnaires were administered to assess nicotine dependence, behavioral dependence, autonomous self-regulation, perceived competence, social support, anxiety, depressive symptoms and meaning in life at baseline, six months and twelve months after clinical discharge...
November 20, 2017: Spanish Journal of Psychology
https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#14
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#15
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29152267/acromegaly-and-cushing-s-syndrome-caused-by-a-neuroendocrine-tumor-arising-within-a-sacrococcygeal-teratoma
#16
Tarig Babiker, Efstathia Kyrodimou, Daniel M Berney, Mark Gurnell, William M Drake, Antonia Brooke
A 60-year-old man with a pre-existing stable sacrococcygeal teratoma developed acromegaly, ectopic Cushing's syndrome, and 5HIAA secretion. To our knowledge, this represents the first reported case of ACTH and serotonin secretion, and likely GHRH or GH cosecretion, from a sacrococcygeal teratoma in an adult.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29151133/treatment-of-relapsed-aml-and-mds-after-allogeneic-stem-cell-transplantation-with-decitabine-and-dli-a-retrospective-multicenter-analysis-on-behalf-of-the-german-cooperative-transplant-study-group
#17
Thomas Schroeder, Christina Rautenberg, William Krüger, Uwe Platzbecker, Gesine Bug, Juliane Steinmann, Stefan Klein, Olaf Hopfer, Kathrin Nachtkamp, Mustafa Kondakci, Stefanie Geyh, Rainer Haas, Ulrich Germing, Martin Bornhäuser, Guido Kobbe
In contrast to the evidence regarding azacitidine (Aza), there is limited knowledge about the combination of decitabine (DAC) and donor lymphocyte infusions as salvage therapy for relapse after allogeneic stem cell transplantation (allo-SCT) so far. We retrospectively analyzed data of 36 patients with hematological (n = 35) or molecular relapse (n = 1) of acute myeloid leukemia (AML, n = 29) or myelodysplastic syndrome (MDS, n = 7) collected from 6 German transplant centers. Patients were treated with a median of 2 cycles DAC (range, 1 to 11)...
November 18, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/29150157/all-cause-mortality-following-an-acute-coronary-syndrome-12-year-follow-up-of-the-comprehensive-2002-new-zealand-acute-coronary-syndrome-audit
#18
Chris J Ellis, Greg D Gamble, Michael J A Williams, Phil Matsis, John M Elliott, Gerry Devlin, Stewart Mann, John K French, Harvey D White
BACKGROUND: To describe the long-term mortality of a complete national cohort of acute coronary syndrome (ACS) patients enrolled in 2002, to compare this with a national age, sex and Māori ethnicity matched population, and to assess the influence of baseline factors on the 12-year mortality. METHODS: We reviewed 721 patients with a discharge diagnosis of an ACS who were enrolled in the first New Zealand ACS audit group cohort over 14days in May 2002. We matched the cohort to the national mortality database using each patient's unique national identity number...
November 7, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29146704/prospective-evaluation-of-kidney-disease-in-joubert-syndrome
#19
Leah R Fleming, Daniel A Doherty, Melissa A Parisi, Ian A Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C Mullikin, May Christine Malicdan, Thierry Vilboux, John A Sayer, William A Gahl, Meral Gunay-Aygun
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146522/germline-genetic-features-of-young-individuals-with-colorectal-cancer
#20
Elena M Stoffel, Erika Koeppe, Jessica Everett, Peter Ulintz, Mark Kiel, Jenae Osborne, Linford Williams, Kristen Hanson, Stephen B Gruber, Laura S Rozek
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) in individuals younger than 50 years old is increasing. We sought to ascertain the proportion of young CRC cases associated with genetic predisposition. METHODS: We performed a retrospective study of individuals diagnosed with CRC at an age younger than 50 years, evaluated by the clinical genetics service at a single tertiary care cancer center from 1998 through 2015. We collected data on patient histories, tumor phenotypes, and results of germline DNA sequencing...
November 12, 2017: Gastroenterology
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