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https://www.readbyqxmd.com/read/29933521/next-generation-sequencing-improves-treatment-efficacy-and-reduces-hospitalization-in-children-with-drug-resistant-epilepsy
#1
Jing Peng, Nan Pang, Ying Wang, Xiao-Le Wang, Jian Chen, Juan Xiong, Pan Peng, Can-Hui Zhu, Miriam Barakael Kessi, Fang He, Fei Yin
BACKGROUND: The purposes of this study were three-fold: (i) to determine the contribution of known genes to the causation of a broad-spectrum of pediatric drug-resistant epilepsy (DRE), (ii) to compare the diagnostic yield and cost among different next-generation sequencing (NGS) approaches, and especially (iii) to assess how NGS approaches can benefit patients by improving diagnosis and treatment efficiency. METHODS: This study enrolled 273 pediatric DRE patients with no obvious acquired etiology...
June 22, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29933513/aura-in-cluster-headache-a-cross-sectional-study
#2
Ilse F de Coo, Leopoldine A Wilbrink, Gaby D Ie, Joost Haan, Michel D Ferrari
BACKGROUND: Aura symptoms have been reported in up to 23% of cluster headache patients, but it is not known whether clinical characteristics are different in participants with and without aura. METHODS: Using validated web-based questionnaires we assessed the presence and characteristics of attack-related aura and other clinical features in 629 subjects available for analysis from an initial cohort of 756 cluster headache subjects. Participants who screened positive for aura were contacted by telephone for confirmation of the ICHD-III criteria for aura...
June 22, 2018: Headache
https://www.readbyqxmd.com/read/29933423/terminal-patient-care-advantages-on-the-applicability-of-anticipated-will-directives-in-the-hospital-context
#3
Silvana Bastos Cogo, Valéria Lerch Lunardi, Alberto Manuel Quintana, Nara Marilene Oliveira Girardon-Perlini, Rosemary Silva da Silveira
To know the advantages related to the applicability of the advance directives of will in the hospital context from the perspective of nurses, doctors and family members. Qualitative, descriptive and exploratory study with semi structured interviews carried out from October to November 2014, with nurses, doctors and family members of patients in the final stage. Afterwards, a discursive textual analysis was carried out. Four categories emerged: respect for patient's autonomy; support in confrontation of conflicts with and from family members; reduction of conflicts in the team about treatments and conducts; disclosure and instrumentation for application of the Advance Directives of Will...
June 7, 2018: Revista Gaúcha de Enfermagem
https://www.readbyqxmd.com/read/29933410/identification-of-dna-methylation-prognostic-signature-of-acute-myelocytic-leukemia
#4
Haiguo Zhang, Guanli Song, Guanbo Song, Ruolei Li, Min Gao, Ling Ye, Chengfang Zhang
BACKGROUND: The aim of this study is to find the potential survival related DNA methylation signature capable of predicting survival time for acute myelocytic leukemia (AML) patients. METHODS: DNA methylation data were downloaded. DNA methylation signature was identified in the training group, and subsequently validated in an independent validation group. The overall survival of DNA methylation signature was performed. Functional analysis was used to explore the function of corresponding genes of DNA methylation signature...
2018: PloS One
https://www.readbyqxmd.com/read/29933365/traditions-of-research-in-community-mental-health-care-planning-and-care-coordination-a-systematic-meta-narrative-review-of-the-literature
#5
Aled Jones, Ben Hannigan, Michael Coffey, Alan Simpson
CONTEXT: In response to political and social factors over the last sixty years mental health systems internationally have endeavoured to transfer the delivery of care from hospitals into community settings. As a result, there has been increased emphasis on the need for better quality care planning and care coordination between hospital services, community services and patients and their informal carers. The aim of this systematic review of international research is to explore which interventions have proved more or less effective in promoting personalized, recovery oriented care planning and coordination for community mental health service users...
2018: PloS One
https://www.readbyqxmd.com/read/29933341/evaluation-of-key-factors-impacting-feeding-safety-in-the-neonatal-intensive-care-unit-a-systematic-review
#6
Bethany A Matus, Kayla M Bridges, John V Logomarsino
BACKGROUND: Individualized feeding care plans and safe handling of milk (human or formula) are critical in promoting growth, immune function, and neurodevelopment in the preterm infant. Feeding errors and disruptions or limitations to feeding processes in the neonatal intensive care unit (NICU) are associated with negative safety events. Feeding errors include contamination of milk and delivery of incorrect or expired milk and may result in adverse gastrointestinal illnesses. PURPOSE: The purpose of this review was to evaluate the effect(s) of centralized milk preparation, use of trained technicians, use of bar code-scanning software, and collaboration between registered dietitians and registered nurses on feeding safety in the NICU...
June 21, 2018: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29933333/-as-black-as-ink-a-case-of-alkaptonuria-associated-myelopathy-and-a-review-of-the-literature
#7
Callum J Donaldson, Stuart L Mitchell, Lee H Riley, Khaled Kebaish
STUDY DESIGN: Case report and literature review. OBJECTIVE: To characterize the rare presentati on of myelopathy occurring secondary to alkaptonuria and to evaluate the available evidence regarding its treatment. SUMMARY OF BACKGROUND DATA: Alkaptonuria is an autosomal recessive genetic condition with an estimated incidence of 1 in 250,000 to 1 in 1,000,000 people. Mutation of the enzyme homogentisate 1,2-dioxygenase leads to the production of high levels of homogentisic acid (HGA), with subsequent deposition in ligaments, cartilage, and menisci...
June 21, 2018: Spine
https://www.readbyqxmd.com/read/29933306/managing-cancer-experiences-an-interpretive-description-study-of-internet-information-use
#8
Kristen R Haase, Wendy Gifford, Lorraine Holtslander, Roanne Thomas
BACKGROUND: People with cancer increasingly use the Internet to find information about their illness. However, little is known regarding people's use of cancer-related Internet information (CRII) to manage their patient experience, defined as patients' cumulative perceptions of interactions with the healthcare system during their illness. OBJECTIVE: The purpose of this study was to create an understanding of CRII use by people newly diagnosed with cancer and how it shapes their patient experience and informs their interactions with healthcare professionals and healthcare services...
June 22, 2018: Cancer Nursing
https://www.readbyqxmd.com/read/29933279/meta-analysis-of-the-surgical-and-rehabilitative-outcomes-of-hip-arthroscopy-in-athletes-with-femoroacetabular-impingement
#9
Danielle Lovett-Carter, Amritpal S Jawanda, Ailish Hannigan
OBJECTIVES: Femoroacetabular impingement (FAI) poses a threat to athletes' capacity to compete. This review aims to estimate the rate of return to sport after hip arthroscopy for treatment of FAI as well as identify factors that may affect athletes' outcomes. DESIGN: Meta-analysis. METHODS: Four databases (EMBASE, PubMed, Web of Science, and Cochrane) were searched in July 2015 by 2 reviewers. Studies were required to include athletes who were treated with hip arthroscopy for symptomatic FAI and also report return to sport as an outcome...
June 21, 2018: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/29933262/factors-associated-with-inadequate-intraoperative-baseline-lower-extremity-somatosensory-evoked-potentials
#10
Jonathan H Chen, Parastou Shilian, Justin Cheongsiatmoy, Andres A Gonzalez
PURPOSE: Intraoperative neurophysiologic monitoring involves the use of various modalities, including somatosensory evoked potentials (SEP), to assess the integrity of the at-risk nervous system during surgeries. Reliable baseline tracings are important because they are data against which future tracings are compared to detect potential injury. In some cases, adequate baselines may be difficult to achieve. Therefore, we analyzed several patient-specific factors to determine which variables are associated with inadequate intraoperative SEP baseline signals...
June 21, 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/29933252/preprocedural-checklist-for-magnetic-resonance-imaging-patients-undergoing-general-anesthesia-a-process-improvement-plan-to-enhance-reimbursement
#11
Susan Hartl, Andi N Rice, Dhanesh K Gupta, Victoria Goode
Thorough documentation is essential for hospital reimbursement from payors such as the Centers for Medicare & Medicaid Services. Inconsistencies and incomplete documentation can occur if workflow is not standardized especially in cases with interdisciplinary involvement. Documentation for patients undergoing magnetic resonance imaging (MRI) with anesthesia services was examined and revealed an opportunity for improvement to avoid financial losses. A preprocedure checklist to improve documentation and standardize workflow was implemented...
June 22, 2018: Health Care Manager
https://www.readbyqxmd.com/read/29933240/central-neuropathic-pain-in-paraplegia-alters-movement-related-potentials
#12
Aleksandra Vučković, Mohammed Jarjees, Muhammad Abul Hasan, Makoto Miyakoshi, Matthew Fraser
OBJECTIVES: Spinal Cord Injured (SCI) persons with and without Central Neuropathic Pain (CNP) show different oscillatory brain activities during imagination of movement. This study investigates whether they also show differences in movement related cortical potentials (MRCP). METHODS: SCI paraplegic patients with no CNP (n = 8), with CNP in their lower limbs (n = 8), and healthy control subjects (n = 10) took part in the study. EEG clustering involved independent component analysis, equivalent current dipole fitting, and Measure Projection to define cortical domains that have functional modularity during the motor imagery task...
June 15, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29933090/hemorrhagic-moyamoya-disease-treatment-a-network-meta-analysis
#13
Jiayue Ding, Da Zhou, Eric Eugene Paul Cosky, Liqun Pan, Jingyuan Ya, Zhongao Wang, Kexin Jin, Jingwei Guan, Yuchuan Ding, Xunming Ji, Ran Meng
OBJECTIVE: Therapeutic strategies for hemorrhagic moyamoya disease (MMD) management remain controversial. This study aims to investigate the most optimal therapy for hemorrhagic MMD. METHODS: According to the PRISMA statement, we searched through relevant articles and references from Pubmed, Embase and the Cochrane database, and a network meta-analysis was performed using R version 3.4.4 software in this study. RESULTS: A total of nine articles (including 1050 patients) were involved in this study...
June 19, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29933072/modified-high-dose-melphalan-and-autologous-stem-cell-transplantation-for-al-amyloidosis-experience-in-334-patients
#14
Vina P Nguyen, Heather Landau, Karen Quillen, Dina Brauneis, Anthony C Shelton, Lisa Mendelson, Hafsa Rahman, J Mark Sloan, Shayna Sarosiek, Vaishali Sanchorawala
High dose melphalan and autologous stem cell transplantation (HDM/SCT) has been used in patients with light chain (AL) amyloidosis for over two decades now with durable responses, prolonged survival, and decreasing treatment related mortality. Historically patients with poorer baseline functional status, advanced age, renal compromise and cardiac involvement have been treated with a risk-adapted modified conditioning dose of melphalan (mHDM) of 100-140 mg/m2 prior to SCT. Due in part to these baseline characteristics, patients receiving mHDM/SCT have had poorer outcomes compared to patients receiving full dose of melphalan at 200 mg/m2 ...
June 19, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29933069/outcomes-of-measurable-residual-disease-in-pediatric-acute-myeloid-leukemia-pre-and-post-hematopoietic-stem-cell-transplant-validation-of-difference-from-normal-flow-cytometry-with-chimerism-studies-and-wilms-tumor-1-gene-expression
#15
David A Jacobsohn, Michael R Loken, Mingwei Fei, Alexia Adams, Lisa Eidenschink Brodersen, Brent R Logan, Kwang Woo Ahn, Bronwen E Shaw, Morris Kletzel, Marie Olszewski, Sana Khan, Soheil Meshinchi, Amy Keating, Andrew Harris, Pierre Teira, Reggie E Duerst, Steven P Margossian, Paul L Martin, Aleksandra Petrovic, Christopher C Dvorak, Eneida R Nemecek, Michael W Boyer, Allen R Chen, Jeffrey H Davis, Shalini Shenoy, Sureyya Savasan, Michelle P Hudspeth, Roberta H Adams, Victor A Lewis, Albert Kheradpour, Kimberly A Kasow, Alfred P Gillio, Ann E Haight, Monica Bhatia, Barbara J Bambach, Hilary L Haines, Troy C Quigg, Robert J Greiner, Julie-An Talano, David C Delgado, Alexandra Cheerva, Madhu Gowda, Sanjay Ahuja, Mehmet Ozkaynak, David Mitchell, Kirk R Schultz, Terry J Fry, David M Loeb, Michael A Pulsipher
We enrolled 150 patients in a prospective multi-center study of children with acute myeloid leukemia undergoing hematopoietic stem cell transplant (HSCT) comparing detection of measurable residual (MRD) disease by a "Difference from Normal" flow cytometry (ΔN) approach with assessment of Wilms tumor 1 (WT-1) gene expression without access to the diagnostic specimen. Prospective analysis of the specimens using this approach showed that 23% of patients being screened for HSCT had detectable residual disease by ΔN (0...
June 19, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29932983/insulin-signaling-pathway-regulates-the-degradation-of-amyloid-%C3%AE-protein-via-astrocytes
#16
Naoki Yamamoto, Ryo Ishikuro, Mamoru Tanida, Kenji Suzuki, Yuri Ikeda-Matsuo, Kazuya Sobue
Alzheimer's disease (AD) has been considered as a metabolic dysfunction disease associated with impaired insulin signalling. Determining the mechanisms underlying insulin signalling dysfunction and resistance in AD will be important for its treatment. Impaired clearance of amyloid-β peptide (Aβ) significantly contributes to amyloid accumulation, which is typically observed in the brain of AD patients. Reduced expression of important Aβ-degrading enzymes in the brain, such as neprilysin (NEP) and insulin-degrading enzyme (IDE), can promote Aβ deposition in sporadic late-onset AD patients...
June 19, 2018: Neuroscience
https://www.readbyqxmd.com/read/29932969/associations-of-genetic-variations-of-the-endothelial-nitric-oxide-synthase-gene-and-environmental-carcinogens-with-oral-cancer-susceptibility-and-development
#17
Chun-Wen Su, Ming-Hsien Chien, Chiao-Wen Lin, Mu-Kuan Chen, Jyh-Ming Chow, Chun-Yi Chuang, Chia-Hsuan Chou, Yu-Cheng Liu, Shun-Fa Yang
Oral cancer is a major head and neck cancer that is reported to be causally associated with genetic factors and environmental carcinogens. Endothelial nitric oxide synthase (eNOS) was reported to modulate carcinogenesis and progression through nitric oxide (NO) production. Genetic polymorphisms in the eNOS gene can regulate its transcription and further mediate NO production. The purpose of this study was to explore the influences of eNOS gene polymorphisms combined with environmental carcinogens on the predisposition for oral cancer...
June 19, 2018: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/29932880/antagonizing-bone-morphogenetic-protein-4-attenuates-disease-progression-in-a-rat-model-of-amyotrophic-lateral-sclerosis
#18
Tomomi Shijo, Hitoshi Warita, Naoki Suzuki, Kensuke Ikeda, Shio Mitsuzawa, Tetsuya Akiyama, Hiroya Ono, Ayumi Nishiyama, Rumiko Izumi, Yasuo Kitajima, Masashi Aoki
Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative syndrome characterized by the systemic loss of motor neurons with prominent astrocytosis and microgliosis in the spinal cord and brain. Astrocytes play an essential role in maintaining extracellular microenvironments that surround motor neurons, and are activated by various insults. Growing evidence points to a non-cell autonomous neurotoxicity caused by chronic and sustained astrocytic activation in patients with neurodegenerative diseases, including ALS...
June 19, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29932616/expression-analysis-of-genes-encoding-tex11-tex12-tex14-and-tex15-in-testis-tissues-of-men-with-non-obstructive-azoospermia
#19
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Mehdi Totonchi, Niloofar Sodeifi, Homa Sarkardeh, Azam Samadian, Mohammad Ali Sadighi-Gilani, Hamid Gourabi
OBJECTIVE: Spermatogenesis is a complex process controlled by a plethora of genes. Changes in expression and function of these genes may thus lead to spermatogenic deficiency and male infertility. TEX11, TEX12, TEX14 and TEX15 are germ cell-specific genes expressed in the testis. TEX11, involved in the initiation and maintenance of chromosome synapses in meiotic chromosomes, has been shown to be essential for meiosis and fertility in males. TEX14, a component of intercellular bridges in germ cells, is required for spermatogenesis and fertility...
June 22, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29932569/health-coaching-strategy-to-improve-glycemic-control-in-african-american-adults-with-type-2-diabetes-an-integrative-review
#20
Larider Ruffin
Diabetes is a complex, chronic illness requiring continuous medical care with multifactorial risk-reduction strategies for appropriate glycemic control. Type 2 diabetes remains a global epidemic secondary to increases in physical inactivity and obesity. While many populations are at risk, African-Americans bear a disproportionate burden from diabetes and its complications. Diabetes self-management education (DSME) is essential to successful diabetes treatment and complication prevention. However, diabetes management requires daily patient involvement and skills...
July 2017: Journal of National Black Nurses' Association: JNBNA
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