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https://www.readbyqxmd.com/read/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#1
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28073935/brain-structure-and-function-associated-with-younger-adults-in-growth-hormone-receptor-deficient-humans
#2
Kaoru Nashiro, Jaime Guevara-Aguirre, Meredith N Braskie, George W Hafzalla, Rico Velasco, Priya Balasubramian, Min Wei, Paul M Thompson, Mara Mather, Marvin D Nelson, Alexandra Guevara, Enrique Teran, Valter D Longo
: Growth hormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low circulating levels of insulin and insulin-like growth factor 1 (IGF-1). Previous studies in mice and humans suggested that GHRD has protective effects against age-related diseases, including cancer and diabetes. Whereas GHRD mice show improved age-dependent cognitive performance, the effect of GHRD on human cognition remains unknown. Using magnetic resonance imaging (MRI), we compared brain structure, function, and connectivity between 13 people with GHRD and 12 unaffected relatives...
January 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28062682/genome-wide-association-study-of-nevirapine-hypersensitivity-in-a-sub-saharan-african-hiv-infected-population
#3
Daniel F Carr, Stephane Bourgeois, Mas Chaponda, Louise Y Takeshita, Andrew P Morris, Elena M Cornejo Castro, Ana Alfirevic, Andrew R Jones, Daniel J Rigden, Sam Haldenby, Saye Khoo, David G Lalloo, Robert S Heyderman, Collet Dandara, Elizabeth Kampira, Joep J van Oosterhout, Francis Ssali, Paula Munderi, Giuseppe Novelli, Paola Borgiani, Matthew R Nelson, Arthur Holden, Panos Deloukas, Munir Pirmohamed
BACKGROUND: The antiretroviral nevirapine is associated with hypersensitivity reactions in 6%-10% of patients, including hepatotoxicity, maculopapular exanthema, Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). OBJECTIVES: To undertake a genome-wide association study (GWAS) to identify genetic predisposing factors for the different clinical phenotypes associated with nevirapine hypersensitivity. METHODS: A GWAS was undertaken in a discovery cohort of 151 nevirapine-hypersensitive and 182 tolerant, HIV-infected Malawian adults...
January 6, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28056011/escherichia-coli-o157-h7-infections-associated-with-contaminated-pork-products-alberta-canada-july-october-2014
#4
Lance Honish, Nisha Punja, Sarah Nunn, Dale Nelson, Nyall Hislop, Garth Gosselin, Natisha Stashko, Darlene Dittrich
During July-October 2014, an outbreak of 119 Escherichia coli O157:H7 infections in Alberta, Canada was identified through notifiable disease surveillance and investigated by local, provincial, and federal public health and food regulatory agencies. Twenty-three (19%) patients were hospitalized, six of whom developed hemolytic uremic syndrome; no deaths were reported. Informed by case interviews, seven potential food sources were identified and investigated. The majority of patients reported having consumed meals containing pork at Asian-style restaurants in multiple geographically diverse Alberta cities during their exposure period...
January 6, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28034579/a-randomized-clinical-trial-of-a-culturally-responsive-intervention-for-african-american-women-with-asthma
#5
Minal R Patel, Peter X K Song, Georgiana Sanders, Belinda Nelson, Elena Kaltsas, Lara J Thomas, Mary R Janevic, Kausar Hafeez, Wen Wang, Margaret Wilkin, Timothy R Johnson, Randall W Brown
BACKGROUND: Few interventions have focused on the difficulties that African American women face when managing asthma. OBJECTIVE: To evaluate a telephone-based self-regulation intervention that emphasized African American women's management of asthma in a series of 6 sessions. METHODS: A total of 422 African American women with persistent asthma were randomly assigned to either an intervention or control group receiving usual care. Behavioral factors, symptoms and asthma control, asthma-related quality of life, and health care use at baseline and 2 years after baseline were assessed...
December 26, 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28017370/de-novo-mutations-in-ebf3-cause-a-neurodevelopmental-syndrome
#6
Hannah Sleven, Seth J Welsh, Jing Yu, Mair E A Churchill, Caroline F Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H Németh
Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome. The mutations were identified in two large-scale sequencing projects: the UK Deciphering Developmental Disorders (DDD) study and the Canadian Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study. The core phenotype includes moderate to severe intellectual disability, and many individuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesicoureteric reflux, suggesting that EBF3 has a widespread developmental role...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27993544/-a-false-nelson-s-syndrome
#7
I M Peral Martínez, M Sánchez Sánchez, A B Martínez Sánchez, J A Martínez Solano, J J Gomariz García
No abstract text is available yet for this article.
December 16, 2016: Semergen
https://www.readbyqxmd.com/read/27982315/haploidentical-transplantation-of-hematopoietic-stem-cells
#8
Nelson Hamerschlak
OBJECTIVE: To review and discuss the literature on hematopoietic stem cell transplantation (HSCT) with haploidentical donors in Brazil. METHOD: Literature review. RESULTS: The haploidentical hematopoietic stem cell transplantations have become a safe option in hematology since the 80s, with the possibility of ex-vivo T-cell depletion. However, its broad use worldwide occurred with the advent of haploidentical nonmyeloablative transplants using in vivo T-cell depletion with the administration of post-transplant cyclophosphamide...
October 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27933201/association-between-metabolic-syndrome-and-liver-histology-among-nafld-patients-without-diabetes
#9
Pushpjeet Kanwar, James E Nelson, Katherine Yates, David E Kleiner, Aynur Unalp-Arida, Kris V Kowdley
BACKGROUND: Metabolic syndrome (MetS) and obesity are associated with non-alcoholic fatty liver disease (NAFLD). The aim of this observational study was to examine the relationship of MetS and a diagnosis of non-alcoholic steatohepatitis (NASH) in patients without diabetes in the NASH Clinical Research Network (CRN). METHODS: Clinical, demographic, histological, laboratory and anthropometric data were collected on 356 adult patients without diabetes with NAFLD. Obesity was defined as body mass index ≥30...
2016: BMJ Open Gastroenterology
https://www.readbyqxmd.com/read/27923944/membrane-oxygenator-use-with-biventricular-assist-device-facilitation-of-support-and-lung-recovery
#10
Kristen Nelson-McMillan, William J Ravekes, William R Thompson, Kristen M Brown, Larry Wolff, Rajeev S Wadia, LeAnn M McNamara, Donald H Shaffner, Ivor D Berkowitz, Marshall L Jacobs, Luca A Vricella
We present the use of a low-resistance membrane oxygenator (Quadrox D, Maquet) in series with a pulsatile right ventricular assist device (Berlin Heart EXCOR, Berlin Heart) in a patient with biventricular support who required high-frequency oscillatory ventilation (HFOV), due to refractory acute respiratory distress syndrome associated with Cytomegalovirus pneumonia. The high mean airway pressure associated with the use of HFOV resulted in a significant negative impact on left ventricular assist device (LVAD) filling that led to a combined respiratory and metabolic acidosis and the need for vasopressor support...
December 6, 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27912901/individualized-versus-conventional-ovarian-stimulation-for-in%C3%A2-vitro-fertilization-a-multicenter-randomized-controlled-assessor-blinded-phase-3-noninferiority-trial
#11
Anders Nyboe Andersen, Scott M Nelson, Bart C J M Fauser, Juan Antonio García-Velasco, Bjarke M Klein, Joan-Carles Arce
OBJECTIVE: To compare the efficacy and safety of follitropin delta, a new human recombinant FSH with individualized dosing based on serum antimüllerian hormone (AMH) and body weight, with conventional follitropin alfa dosing for ovarian stimulation in women undergoing IVF. DESIGN: Randomized, multicenter, assessor-blinded, noninferiority trial (ESTHER-1). SETTING: Reproductive medicine clinics. PATIENT(S): A total of 1,329 women (aged 18-40 years)...
November 22, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27912889/hormone-replacement-therapy-in-young-women-with-primary-ovarian-insufficiency-and-early-menopause
#12
REVIEW
Shannon D Sullivan, Philip M Sarrel, Lawrence M Nelson
Primary ovarian insufficiency (POI) is a rare but important cause of ovarian hormone deficiency and infertility in women. In addition to causing infertility, POI is associated with multiple health risks, including bothersome menopausal symptoms, decreased bone density and increased risk of fractures, early progression of cardiovascular disease, psychologic impact that may include depression, anxiety, and decreased perceived psychosocial support, potential early decline in cognition, and dry eye syndrome. Appropriate hormone replacement therapy (HRT) to replace premenopausal levels of ovarian sex steroids is paramount to increasing quality of life for women with POI and ameliorating associated health risks...
December 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27900361/kbg-syndrome-involving-a-single-nucleotide-duplication-in-ankrd11
#13
Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J Lyon
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed because of lack of comprehensive characterization of the heterogeneous phenotypic features. We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmental delay, distinct facial features, and hand anomalies, without a positive genetic diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27868354/high-incidence-of-bscl2-intragenic-recombinational-mutation-in-peruvian-type-2-berardinelli-seip-syndrome
#14
Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M Hisama, George M Martin, Junko Oshima
Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27860277/comparison-of-transradial-and-transfemoral-access-in-patients-undergoing-percutaneous-coronary-intervention-for-complex-coronary-lesions
#15
Edward Koifman, Michael A Gaglia, Ricardo O Escarcega, Nelson L Bernardo, Robert A Lager, Robert A Gallino, Itsik Ben-Dor, Augusto D Pichard, Nevin C Baker, Michael J Lipinski, Sarkis Kiramijyan, Smita I Negi, Rebecca Torguson, Jiaxiang Gai, William O Suddath, Lowell F Satler, Ron Waksman
OBJECTIVE: Comparison of transradial versus transfemoral access for complex percutaneous coronary intervention (PCI) with regard to both complications and long-term outcomes. BACKGROUND: Radial access has been shown to confer superior results in patients undergoing PCI, especially in patients with acute coronary syndromes. However, radial access has limitations of sheath and device size, which may increase procedure time and result in inferior outcomes. METHODS: Patients undergoing PCI for complex lesions, defined as type C according the ACC/AHA classification system, were included in this study...
November 10, 2016: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/27850594/956-a-mortality-prediction-model-for-pediatric-acute-respiratory-distress-syndrome
#16
Robinder Khemani, Lincoln Smith, Kaushik Parvathaneni, Nelson Sanchez-Pinto, Christopher Newth
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27827529/a-design-thinking-approach-to-primary-ovarian-insufficiency
#17
Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter F Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelson
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder...
March 2017: Panminerva Medica
https://www.readbyqxmd.com/read/27824770/microangiopathic-hemolytic-anemia-due-to-malignancy-in-pregnancy
#18
Sarah K Happe, Amanda C Zofkie, David B Nelson
BACKGROUND: Microangiopathic disorders during pregnancy remain a diagnostic challenge because these conditions often imitate more common obstetric diseases. CASE: A 31-year-old multigravid woman delivered at term with a postpartum course complicated by laboratory indices consistent with hemolysis, elevated liver enzymes, and low platelet count syndrome. After clinical recovery, she was readmitted 2 weeks after delivery with presumptive pyelonephritis. Persistent hemolysis and worsening thrombocytopenia suggested a diagnosis of thrombotic microangiopathy, which did not respond to plasma exchange...
December 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27818397/critical-issues-in-the-lives-of-children-and-youth-who-are-deafblind
#19
Catherine Nelson, Susan M Bruce
The coeditors of an American Annals of the Deaf special issue on deaf-blindness introduce readers to critical issues surrounding children and youth who are deafblind. These issues-early identification, communication, social-emotional needs, family and multicultural issues, universal design and assistive technology, transition planning, and personnel preparation-are explored further in the articles that follow. By way of introduction, the present article provides definitions of deafblindness and a discussion of the heterogeneous nature of the population...
2016: American Annals of the Deaf
https://www.readbyqxmd.com/read/27815508/pathophysiology-of-exercise-intolerance-in-breast-cancer-survivors-with-preserved-left-ventricular-ejection-fraction
#20
REVIEW
Mark J Haykowsky, Rhys Beaudry, R Matthew Brothers, Michael D Nelson, Satyam Sarma, Andre La Gerche
Breast cancer (BC) survival rates have improved during the past two decades and as a result older BC survivors are at increased risk of developing heart failure (HF). Although the HF phenotype common to BC survivors has received little attention, BC survivors have a number of risk factors associated with HF and preserved ejection fraction (HFPEF) including older age, hypertension, obesity, metabolic syndrome and sedentary lifestyle. Moreover, not unlike HFPEF, BC survivors with preserved left ventricular ejection fraction (BCPEF) have reduced exercise tolerance measured objectively as decreased peak oxygen uptake (peak VO2)...
December 1, 2016: Clinical Science (1979-)
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