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https://www.readbyqxmd.com/read/29787425/a-metabolomic-serum-signature-from-nonhuman-primates-treated-with-a-radiation-countermeasure-gamma-tocotrienol-and-exposed-to-ionizing-radiation
#1
Evan L Pannkuk, Evagelia C Laiakis, Albert J Fornace, Oluseyi O Fatanmi, Vijay K Singh
The search for and development of radiation countermeasures to treat acute lethal radiation injury has been underway for the past six decades, resulting in the identification of multiple classes of radiation countermeasures. However, to date only granulocyte colony-stimulating factor (Neupogen) and PEGylated granulocyte colony-stimulating factor (Neulasta) have been approved by the U.S. Food and Drug Administration for the treatment of hematopoietic acute radiation syndrome. Gamma-tocotrienol has demonstrated radioprotective efficacy in murine and nonhuman primate models...
July 2018: Health Physics
https://www.readbyqxmd.com/read/29778387/major-depression-antidepressant-use-and-male-and-female-fertility
#2
Emily A Evans-Hoeker, Esther Eisenberg, Michael P Diamond, Richard S Legro, Ruben Alvero, Christos Coutifaris, Peter R Casson, Gregory M Christman, Karl R Hansen, Heping Zhang, Nanette Santoro, Anne Z Steiner
OBJECTIVE: To determine if maternal major depression (MD), antidepressant use, or paternal MD are associated with pregnancy outcomes after non-IVF fertility treatments. DESIGN: Cohort study. SETTING: Clinics. PATIENT(S): Participants in two randomized trials: PPCOS II (clomiphene citrate versus letrozole for polycystic ovary syndrome), and AMIGOS (gonadotropins versus clomiphene citrate versus letrozole for unexplained infertility)...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#3
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29760010/home-oximetry-to-screen-for-obstructive-sleep-apnoea-in-down-syndrome
#4
Catherine M Hill, Heather E Elphick, Michael Farquhar, Paul Gringras, Ruth M Pickering, Ruth N Kingshott, Jane Martin, Janine Reynolds, Anna Joyce, Johanna C Gavlak, Hazel J Evans
OBJECTIVE: Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic multichannel sleep studies. DESIGN: Cross-sectional prospective study in a training sample recruited through three UK centres. Validation sample used single-centre retrospective analysis of clinical data...
May 14, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29758323/why-do-vascular-surgeons-get-sued-analysis-of-claims-and-outcomes-in-malpractice-litigation
#5
John Phair, Eric B Trestman, Eddie Skripochnik, Evan C Lipsitz, Issam Koleilat, Larry A Scher
OBJECTIVE: To analyze causes and outcomes of malpractice claims against vascular surgeons in the United States. METHODS: Cases entered into the Westlaw database from January 1st 1999 to December 31st 2014 were reviewed. Search terms "vascular" and "surgeon" were used. Data was compiled on the allegation, subject matter and outcome of each case. Additional data including demographics of the defendant was obtained from U.S. News Health Reports on practicing physicians...
May 11, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29754933/sleep-duration-and-sleep-quality-in-people-with-and-without-intellectual-disability-a-meta-analysis
#6
REVIEW
Andrew D R Surtees, Chris Oliver, Chris A Jones, David L Evans, Caroline Richards
This study provides the first meta-analysis of the purported differences in sleep time and sleep quality between people with and without intellectual disabilities. Twenty-one papers were identified that compared sleep time and/or sleep quality in people with and without intellectual disabilities. The meta-analysis of sleep time revealed that people with an intellectual disability slept for 18 min less, on average, than people without an intellectual disability. This significant difference was limited to those studies that tested groups of people with an identified genetic syndrome or developmental disorder...
November 28, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29750252/whole-exome-sequencing-of-an-exceptional-longevity-cohort
#7
Haakon B Nygaard, E Zeynep Erson-Omay, Xiujuan Wu, Brianne A Kent, Cecily Q Bernales, Daniel M Evans, Matthew J Farrer, Carles Vilariño-Güell, Stephen M Strittmatter
Centenarians represent a unique cohort to study the genetic basis for longevity and factors determining the risk of neurodegenerative disorders, including Alzheimer's disease (AD). The estimated genetic contribution to longevity is highest in centenarians and supercententenarians, but few genetic variants have been shown to clearly impact this phenotype. While the genetic risk for AD and other dementias is now well understood, the frequency of known dementia risk variants in centenarians is not fully characterized...
May 10, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29747233/comparison-of-endoscopic-and-percutaneous-drainage-of-symptomatic-necrotic-collections-in-acute-necrotizing-pancreatitis
#8
Shanan Woo, Ryan Walklin, Travis Ackermann, Sheng Wei Lo, Hamish Shilton, Charles Pilgrim, Peter Evans, James Burnes, Daniel Croagh
INTRODUCTION: Primary endoscopic and percutaneous drainage for pancreatic necrotic collections is increasingly used. We aim to compare the relative effectiveness of both modalities in reducing the duration and severity of illness by measuring their effects on systemic inflammatory response syndrome (SIRS). METHODS: We retrospectively reviewed all cases of endoscopic and percutaneous drainage for pancreatic necrotic collections performed in 2011-2016 at two hospitals...
May 10, 2018: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/29738885/regulation-of-seizure-induced-mecp2-ser421-phosphorylation-in-the-developing-brain
#9
Evan C Rosenberg, Jocelyn J Lippman-Bell, Marcus Handy, Samantha S Soldan, Sanjay Rakhade, Cristina Hilario-Gomez, Kaitlyn Folweiler, Leah Jacobs, Frances E Jensen
Neonatal seizures disrupt normal synaptic maturation and often lead to later-life epilepsy and cognitive deficits. During early life, the brain exhibits heightened synaptic plasticity, in part due to a developmental overabundance of CaV 1.2 L-type voltage gated calcium (Ca2+ ) channels (LT-VGCCs) and Ca2+ -permeable AMPARs (CP-AMPARs) lacking GluA2 subunits. We hypothesized that early-life seizures overactivate these channels, in turn dysregulating Ca2+ -dependent signaling pathways including that of methyl-CPG-binding protein 2 (MeCP2), a transcription factor implicated in the autism spectrum disorder (ASD) Rett Syndrome...
May 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#10
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29718253/adverse-effects-of-statin-therapy-perception-vs-the-evidence-focus-on-glucose-homeostasis-cognitive-renal-and-hepatic-function-haemorrhagic-stroke-and-cataract
#11
François Mach, Kausik K Ray, Olov Wiklund, Alberto Corsini, Alberico L Catapano, Eric Bruckert, Guy De Backer, Robert A Hegele, G Kees Hovingh, Terry A Jacobson, Ronald M Krauss, Ulrich Laufs, Lawrence A Leiter, Winfried März, Børge G Nordestgaard, Frederick J Raal, Michael Roden, Raul D Santos, Evan A Stein, Erik S Stroes, Paul D Thompson, Lale Tokgözoglu, Georgirene D Vladutiu, Baris Gencer, Jane K Stock, Henry N Ginsberg, M John Chapman
Aims: To objectively appraise evidence for possible adverse effects of long-term statin therapy on glucose homeostasis, cognitive, renal and hepatic function, and risk for haemorrhagic stroke or cataract. Methods and results: A literature search covering 2000-2017 was performed. The Panel critically appraised the data and agreed by consensus on the categorization of reported adverse effects. Randomized controlled trials (RCTs) and genetic studies show that statin therapy is associated with a modest increase in the risk of new-onset diabetes mellitus (about one per thousand patient-years), generally defined by laboratory findings (glycated haemoglobin ≥6...
April 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29712475/developmental-delay-treatment-resistant-psychosis-and-early-onset-dementia-in-a-man-with-22q11-deletion-syndrome-and-huntington-s-disease
#12
Martilias Farrell, Maya Lichtenstein, James J Crowley, Dawn M Filmyer, Gabriel Lázaro-Muñoz, Rita A Shaughnessy, Ian R Mackenzie, Veronica Hirsch-Reinshagen, Robert Stowe, James P Evans, Jonathan S Berg, Jin Szatkiewicz, Richard C Josiassen, Patrick F Sullivan
No abstract text is available yet for this article.
May 1, 2018: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29706350/a-saturation-mutagenesis-approach-to-understanding-pten-lipid-phosphatase-activity-and-genotype-phenotype-relationships
#13
Taylor L Mighell, Sara Evans-Dutson, Brian J O'Roak
Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically relevant genotype-phenotype relationships, we systematically evaluated the effect of PTEN mutations on lipid phosphatase activity in vivo. Using a massively parallel approach that leverages an artificial humanized yeast model, we derived high-confidence estimates of functional impact for 7,244 single amino acid PTEN variants (86% of possible)...
April 23, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29693762/growth-body-composition-and-bone-density-following-pediatric-liver-transplantation
#14
Amin Sheikh, Tim Cundy, Helen Maria Evans
Patients transplanted for cholestatic liver disease are often significantly fat-soluble vitamin deficient and malnourished pretransplant, with significant corticosteroid exposure post-transplant, with increasing evidence of obesity and metabolic syndrome post-LT. Our study aimed to assess growth, body composition, and BMD in patients post-pediatric LT. Body composition and bone densitometry scans were performed on 21 patients. Pre- and post-transplant anthropometric data were analyzed. Bone health was assessed using serum ALP, calcium, phosphate, and procollagen-1-N-peptide levels...
April 24, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29687018/diabetes-and-obesity-are-the-main-metabolic-drivers-of-peripheral-neuropathy
#15
Brian C Callaghan, LeiLi Gao, Yufeng Li, Xianghai Zhou, Evan Reynolds, Mousumi Banerjee, Rodica Pop-Busui, Eva L Feldman, Linong Ji
Objective: To determine the associations between individual metabolic syndrome (MetS) components and peripheral neuropathy in a large population-based cohort from Pinggu, China. Methods: A cross-sectional, randomly selected, population-based survey of participants from Pinggu, China was performed. Metabolic phenotyping and neuropathy outcomes were performed by trained personnel. Glycemic status was defined according to the American Diabetes Association criteria, and the MetS using modified consensus criteria (body mass index instead of waist circumference)...
April 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29686837/effort-thrombosis-of-the-subclavian-artery-as-a-consequence-of-a-unique-anomaly
#16
Evan R Brownie, Robert W Thompson
Congenital anatomic anomalies and variations are frequent in the thoracic outlet and may be associated with clinical symptoms. Arterial thoracic outlet syndrome (TOS) is characterized by subclavian artery compression and vascular pathology, almost always in the presence of a bony abnormality. We describe here a patient with arterial thromboembolism following a fall on the outstretched arm, who was found to have subclavian artery stenosis and post-stenotic dilatation in the absence of a bony abnormality. Surgical exploration revealed a previously undescribed anomaly in which the subclavian artery passed through the costoclavicular space in front of the anterior scalene muscle, where it was subject to bony compression between the first rib and clavicle...
April 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29686068/recurrent-structural-variation-clustered-sites-of-selection-and-disease-risk-for-the-complement-factor-h-cfh-gene-family
#17
Stuart Cantsilieris, Bradley J Nelson, John Huddleston, Carl Baker, Lana Harshman, Kelsi Penewit, Katherine M Munson, Melanie Sorensen, AnneMarie E Welch, Vy Dang, Felix Grassmann, Andrea J Richardson, Robyn H Guymer, Tina A Graves-Lindsay, Richard K Wilson, Bernhard H F Weber, Paul N Baird, Rando Allikmets, Evan E Eichler
Structural variation and single-nucleotide variation of the complement factor H ( CFH ) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS). To understand its diversity and evolution, we performed high-quality sequencing of this ∼360-kbp locus in six primate lineages, including multiple human haplotypes. Comparative sequence analyses reveal two distinct periods of gene duplication leading to the emergence of four CFH -related ( CFHR ) gene paralogs ( CFHR2 and CFHR4 ∼25-35 Mya and CFHR1 and CFHR3 ∼7-13 Mya)...
April 23, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29675258/livedo-reticularis-a-cutaneous-clue-to-an-underlying-endocrine-crisis
#18
Natasha Shrikrishnapalasuriyar, Mirena Noyvirt, Philip Evans, Bethan Gibson, Elin Foden, Atul Kalhan
A 54-year-old woman was admitted to hospital with a presumed allergic reaction to a single dose of amoxicillin given for a suspected upper respiratory tract infection. She complained of chest tightness although there was no wheeze or stridor. On examination, she was pyrexial, tachycardic, hypertensive and had a diffuse mottled rash on her lower limbs. Her initial investigations showed raised inflammatory markers. She was treated in the intensive care for a presumed anaphylactic reaction with an underlying sepsis...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29670914/association-of-wrist-circumference-and-waist-to-height-ratio-with-cardiometabolic-risk-factors-among-type-ii-diabetics-in-a-ghanaian-population
#19
Christian Obirikorang, Yaa Obirikorang, Emmanuel Acheampong, Enoch Odame Anto, Emmanuel Toboh, Evans Adu Asamoah, Bright Amakwaa, Emmanuella Nsenbah Batu, Peter Brenya
The study determined the association of wrist circumference (WrC) and waist-to-height ratio (WHtR) with cardiometabolic risk factors among diabetics in a Ghanaian population. This cross-sectional study involved 384 diabetic patients at Begoro District Hospital, Ghana. Blood pressure, anthropometrics, and biochemical indices were measured. The overall prevalence of dyslipidaemia, metabolic syndrome (MetS), and hypertension was 42.4%, 76.3%, and 39.8%, respectively. The optimum cut-off range of WrC to identify individuals at increased cardiometabolic risk was 17...
2018: Journal of Diabetes Research
https://www.readbyqxmd.com/read/29660042/pediatric-irritable-bowel-syndrome-perspectives-on-pain-and-adolescent-social-functioning
#20
Elizabeth Donovan, Sarah R Martin, Kirsten Lung, Subhadra Evans, Laura C Seidman, Tara M Cousineau, Elizabeth Cook, Lonnie K Zeltzer
Objective: The goal of the study was to describe the experiences of adolescents with irritable bowel syndrome (IBS) from the perspective of adolescents, their parents, and health care providers who treat adolescents who have IBS. Design: The study consisted of semistructured interviews. Setting: Participants were recruited from multidisciplinary pain clinics. Subjects: Thirty-six people participated in the study: 12 adolescents, 12 parents, and 12 health care providers...
April 5, 2018: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
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