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Edward Syndrome

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https://www.readbyqxmd.com/read/29471147/blue-light-versus-red-light-for-photodynamic-therapy-of-basal-cell-carcinoma-in-patients-with-gorlin-syndrome-a-bilaterally-controlled-comparison-study
#1
Edward V Maytin, Urvashi Kaw, Muneeb Ilyas, Judith A Mack, Bo Hu
BACKGROUND: Photodynamic therapy (PDT) is a non-scarring alternative for treating basal cell carcinoma (BCC) in patients with Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. In Europe, red light (635 nm) is the predominant source for PDT, whereas in the United States blue light (400 nm) is more widely available. The objective of this study was to conduct a head-to-head comparison of blue light and red light PDT in the same BCNS patients. METHODS: In a pilot study of three patients with 141 BCC lesions, 5-aminolevulinate (20% solution) was applied to all tumors...
February 19, 2018: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/29469822/autosomal-recessive-noonan-syndrome-associated-with-biallelic-lztr1-variants
#2
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated...
February 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29466521/prolonged-zika-virus-viremia-in-a-patient-with-guillain-barr%C3%A3-syndrome-in-trinidad-and-tobago
#3
Gabriel Gonzalez-Escobar, Anne Marie Valadere, Rosmond Adams, Karen Polson-Edwards, Avery Q J Hinds, Akenath Misir, C James Hospedales
An emerging mosquito-borne flavivirus, Zika virus (ZIKV) is a significant public health concern because of the syndromes associated with the infection. In addition, ZIKV is considered a major problem due to large-scale spread of the disease and the possible clinical complications for the central nervous system, especially Guillain-Barré syndrome (GBS) and microcephaly. Since the introduction of ZIKV in the Caribbean, molecular detection of the viral RNA has been utilized as a more specific and sensitive approach to demonstrating acute infection...
February 19, 2018: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/29465655/defining-the-urethritis-syndrome-in-men-using-patient-reported-symptoms
#4
Stephen J Jordan, Kristal J Aaron, Jane R Schwebke, Barbara J Van Der Pol, Edward W Hook
No abstract text is available yet for this article.
January 16, 2018: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/29464836/the-presentation-and-management-of-platelet-disorders-in-pregnancy
#5
Bernardus G Goldman, Mark P Hehir, Sahr Yambasu, Edward M O'Donnell
Thrombocytopenia, defined as a platelet count less than 150,000 per microlitre, occurs in 7-12% of all pregnancies. Aside from anaemia, it is the most common haematological disorder in pregnancy. Despite its frequent occurrence, thrombocytopenia often leads to difficulties of diagnosis and management in pregnancy. Typically, a pregnant woman will have platelet counts of 150,000 to 450,000 per microlitre and platelet counts may be slightly lower than those of healthy, non-pregnant controls. Approximately 8% of pregnant women will develop mild thrombocytopenia (100,000-150,000 per microlitre) and while 65% of these women will have no underlying pathology, all pregnant women with platelet counts of less than 100,000 per microlitre should undergo further clinical and laboratory assessment...
February 21, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29456049/six-month-outcomes-after-high-risk-coronary-artery-bypass-graft-surgery-and-preoperative-intra-aortic-balloon-counterpulsation-use-an-inception-cohort-study
#6
Edward Litton, Frances Bass, Anthony Delaney, Graham Hillis, Silvana Marasco, Shay McGuinness, Paul S Myles, Christopher M Reid, Julian A Smith
OBJECTIVE: To inform the design of a pivotal randomized controlled trial of prophylactic intra-aortic balloon counterpulsation (IABC) in patients undergoing coronary artery bypass graft (CABG) at high risk of postoperative low cardiac output syndrome (LCOS). DESIGN: Inception cohort study. SETTING: A total of 13 established cardiac centers in Australia, Canada, New Zealand, and the United Kingdom. PARTICIPANTS: Adult patients were eligible for inclusion if they were listed for CABG surgery and had 2 or more LCOS risk factors (low ejection fraction, severe left main coronary artery disease, redo sternotomy, unstable angina)...
January 5, 2018: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29447831/rhabdomyolysis-after-prolonged-surgery-report-of-2-cases-and-review-of-literature
#7
Rebecca Grammer, Jingping Wang, Edward Lahey
Rhabdomyolysis is a condition in which damaged muscle tissue breaks down and intracellular contents, including myoglobin, are released into the circulation. This produces a nonspecific clinical syndrome including electrolyte disturbances, hypovolemia, metabolic acidosis, coagulopathies, and risk of acute kidney injury. Rhabdomyolysis has been reported as a complication of prolonged surgical procedures but has rarely been reported in the oral and maxillofacial surgery literature. Early diagnosis and treatment of rhabdomyolysis are important to avoid long-term complications such as renal failure...
February 2, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29441430/prenatal-diagnosis-of-apert-syndrome-using-ultrasound-magnetic-resonance-imaging-and-three-dimensional-virtual-physical-models-three-case-series-and-literature-review
#8
Heron Werner, Pedro Castro, Pedro Daltro, Jorge Lopes, Gerson Ribeiro, Edward Araujo Júnior
OBJECTIVE: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models. METHODS: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data...
February 13, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29439729/application-of-neural-networks-for-classification-of-patau-edwards-down-turner-and-klinefelter-syndrome-based-on-first-trimester-maternal-serum-screening-data-ultrasonographic-findings-and-patient-demographics
#9
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29435578/comparative-effectiveness-of-levetiracetam-vs-phenobarbital-for-infantile-epilepsy
#10
Zachary M Grinspan, Renée A Shellhaas, Jason Coryell, Joseph E Sullivan, Elaine C Wirrell, John R Mytinger, William D Gaillard, Eric H Kossoff, Ignacio Valencia, Kelly G Knupp, Courtney Wusthoff, Cynthia Keator, Nicole Ryan, Tobias Loddenkemper, Catherine J Chu, Edward J Novotny, John Millichap, Anne T Berg
Importance: More than half of infants with new-onset epilepsy have electroencephalographic and clinical features that do not conform to known electroclinical syndromes (ie, nonsyndromic epilepsy). Levetiracetam and phenobarbital are the most commonly prescribed medications for epilepsy in infants, but their comparative effectiveness is unknown. Objective: To compare the effectiveness of levetiracetam vs phenobarbital for nonsyndromic infantile epilepsy. Design, Setting, and Participants: The Early Life Epilepsy Study-a prospective, multicenter, observational cohort study conducted from March 1, 2012, to April 30, 2015, in 17 US medical centers-enrolled infants with nonsyndromic epilepsy and a first afebrile seizure between 1 month and 1 year of age...
February 12, 2018: JAMA Pediatrics
https://www.readbyqxmd.com/read/29431507/high-amounts-of-sitting-low-cardiorespiratory-fitness-and-low-physical-activity-levels-3-key-ingredients-in-the-recipe-for-influencing-metabolic-syndrome-prevalence
#11
Meghan K Edwards, Paul D Loprinzi
PURPOSE: Limited research has evaluated the independent and additive associations of moderate-to-vigorous physical activity (MVPA), sedentary behavior (SB), and cardiorespiratory fitness (CRF) with metabolic syndrome, which was the purpose of this study. DESIGN: Cross-sectional. SETTING: National Health and Nutrition Examination Survey 2003 to 2004. SAMPLE: Three hundred seven adults aged 20 to 49 years. MEASURES: Moderate-to-vigorous physical activity and SB were assessed via accelerometer, whereas CRF was assessed via submaximal treadmill testing...
March 2018: American Journal of Health Promotion: AJHP
https://www.readbyqxmd.com/read/29430200/exploring-sleep-disorders-in-patients-with-chronic-kidney-disease
#12
REVIEW
Gaurav Nigam, Macario Camacho, Edward T Chang, Muhammad Riaz
Kidney disorders have been associated with a variety of sleep-related disorders. Therefore, researchers are placing greater emphasis on finding the role of chronic kidney disease (CKD) in the development of obstructive sleep apnea and restless legs syndrome. Unfortunately, the presence of other sleep-related disorders with CKDs and non-CKDs has not been investigated with the same clinical rigor. Recent studies have revealed that myriad of sleep disorders are associated with CKDs. Furthermore, there are a few non-CKD-related disorders that are associated with sleep disorders...
2018: Nature and Science of Sleep
https://www.readbyqxmd.com/read/29429065/anterior-cervical-arthrodesis-for-chronic-hangman-s-fracture-in-a-patient-with-osteopetrosis-a-case-report
#13
Kentaro Yamane, Nobuo Kai
INTRODUCTION: Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. Affected patients usually suffer from repetitive fractures due to this pathological state. Surgical treatment of these fractures is often complicated by the difficulty of working with the extremely hard and brittle bones. The purpose of this study was to report a case of chronic hangman's fracture in a patient with osteopetrosis who underwent surgery for cervical anterior interbody fusion...
February 10, 2018: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/29426788/approach-to-a-patient-with-diplopia-in-the-emergency-department
#14
Edward Margolin, Cindy T Y Lam
BACKGROUND: Diplopia can be the result of benign or life-threatening etiologies. It is imperative for the emergency physician to be proficient at assessing diplopia and recognize when urgent referral or neuroimaging is required. OBJECTIVE: The first part of this review highlights a simple framework to arrive at the appropriate disposition of diplopic patients presenting to the emergency department (ED). The second part of this review provides more detail and further management strategies...
February 6, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29426243/external-auditory-canal-dimensions-age-and-cerumen-retention-or-impaction-in-persons-with-down-syndrome
#15
Alexander Edward S Dy, José Florencio F Lapeña
OBJECTIVE: To investigate associations between age, external auditory canal (EAC) dimensions, and cerumen retention/impaction among persons with Down syndrome (DS). METHODS: This cross-sectional study evaluated EAC dimensions, cerumen retention/impaction, and middle ear status with pneumatoscopy after extraction in 130 persons with DS. Descriptive and inferential statistics correlated age, presence of impacted/retained cerumen, and EAC diameter. RESULTS: Of 260 ears in 67 males and 63 females with average age of 9...
February 1, 2018: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/29420696/sensitivity-analyses-for-misclassification-of-cause-of-death-in-the-parametric-g-formula
#16
Jessie K Edwards, Stephen R Cole, Richard D Moore, W Christopher Mathews, Mari Kitahata, Joseph J Eron
Cause-specific mortality is an important outcome in studies of interventions to improve survival, yet causes of death can be misclassified. Here, we present an approach to perform sensitivity analyses for misclassification of cause of death in the parametric g-formula. The g-formula is useful method to estimate effects of interventions in epidemiologic research because it appropriately accounts for time-varying confounding affected by prior treatment and can estimate risk under dynamic treatment plans. We illustrate our approach using an example comparing acquired immune deficiency syndrome (AIDS)-related mortality under immediate and delayed treatment strategies in a cohort of therapy-naïve adults entering care for human immunodeficiency virus in the United States...
February 6, 2018: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29411031/prevalence-of-fetal-alcohol-spectrum-disorders-in-4-us-communities
#17
Philip A May, Christina D Chambers, Wendy O Kalberg, Jennifer Zellner, Haruna Feldman, David Buckley, David Kopald, Julie M Hasken, Ronghui Xu, Gordon Honerkamp-Smith, Howard Taras, Melanie A Manning, Luther K Robinson, Margaret P Adam, Omar Abdul-Rahman, Keith Vaux, Tamison Jewett, Amy J Elliott, Julie A Kable, Natacha Akshoomoff, Daniel Falk, Judith A Arroyo, Dale Hereld, Edward P Riley, Michael E Charness, Claire D Coles, Kenneth R Warren, Kenneth Lyons Jones, H Eugene Hoyme
Importance: Fetal alcohol spectrum disorders are costly, life-long disabilities. Older data suggested the prevalence of the disorder in the United States was 10 per 1000 children; however, there are few current estimates based on larger, diverse US population samples. Objective: To estimate the prevalence of fetal alcohol spectrum disorders, including fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder, in 4 regions of the United States...
February 6, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29404899/tox3-variants-are-involved-in-restless-legs-syndrome-and-parkinson-s-disease-with-opposite-effects
#18
Sadaf Mohtashami, Qin He, Jennifer A Ruskey, Sirui Zhou, Patrick A Dion, Richard P Allen, Christopher J Earley, Edward A Fon, Lan Xiong, Nicolas Dupre, Yves Dauvilliers, Guy A Rouleau, Ziv Gan-Or
Parkinson's disease (PD) and restless legs syndrome (RLS) may be clinically and/or etiologically related, yet this association is under debate. Single-nucleotide polymorphisms (SNPs) in the TOX3 gene locus were implicated in both RLS and PD genome-wide association studies (GWASs), suggesting a potential pleiotropy. Two case-control cohorts including 644 PD patients, 457 RLS patients, and 945 controls were genotyped for one known RLS-related SNP (rs3104767) and one PD-related SNP (rs4784226) in the TOX3 locus...
February 5, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29402689/patient-provider-and-environmental-factors-associated-with-adherence-to-cardiovascular-and-cerebrovascular-clinical-practice-guidelines-in-the-emergency-department
#19
Stacy A Trent, Michael A Johnson, Erica A Morse, Edward P Havranek, Jason S Haukoos
OBJECTIVES: Myocardial infarction and stroke are two of the leading causes of death in the U.S. Both diseases have clinical practice guidelines (CPGs) specific to the emergency department (ED) that improve patient outcomes. Our primary objectives were to estimate differences in ED adherence across CPGs for these diseases and identify patient, provider, and environmental factors associated with adherence. METHODS: Design: Retrospective study at 3 hospitals in Colorado using standard medical record review...
December 29, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29394425/hospital-readmission-rates-following-ami-potential-interventions-to-improve-efficiency
#20
Jennifer T Nguyen, Kairav Vakil, Selcuk Adabag, Anders Westanmo, Richard Madlon-Kay, Areef Ishani, Santiago Garcia, Edward O McFalls
OBJECTIVES: Quality of care utilization measures for patients admitted to the hospital with an acute myocardial infarction (AMI) include length of stay (LOS) and 30-day readmission rates. Our aim was to test whether efforts resulting in reduced LOS in patients diagnosed as having AMI would result in a higher risk of readmission within 30 days of hospital discharge and whether specific interventions could be targeted to reduce readmissions. METHODS: Using data supplied by the Veterans Affairs Inpatient Evaluation Center, we analyzed both the readmissions within 30 days of an AMI and LOS and determined the timing of readmissions and associated diagnoses...
February 2018: Southern Medical Journal
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