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https://www.readbyqxmd.com/read/28333917/a-clinical-utility-study-of-exome-sequencing-versus-conventional-genetic-testing-in-pediatric-neurology
#1
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner, Simone van der Burg, Janneke Grutters, Joris A Veltman, Michèl A A P Willemsen
PURPOSE: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. METHODS: We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28332761/a-uk-national-survey-of-care-pathways-and-support-offered-to-patients-receiving-revision-surgery-for-prosthetic-joint-infection-in-the-highest-volume-nhs-orthopaedic-centres
#2
Andrew J Moore, Michael R Whitehouse, Rachael Gooberman-Hill, Jason Heddington, Andrew D Beswick, Ashley W Blom, Tim J Peters
BACKGROUND: Deep prosthetic joint infection (PJI) is a devastating complication of joint replacement surgery. It is difficult to treat, and patients often require multiple major revision surgeries to eradicate the infection. Treatment can have negative and long-term impact on patients' quality of life. Understanding current service provision provides valuable information needed to design and evaluate support interventions for patients. AIM: This survey aimed to identify usual care pathways and support in UK National Health Service (NHS) orthopaedic centres for patients receiving revision surgery for PJI after hip or knee replacement...
March 23, 2017: Musculoskeletal Care
https://www.readbyqxmd.com/read/28331608/american-society-for-enhanced-recovery-aser-and-perioperative-quality-initiative-poqi-joint-consensus-statement-on-measurement-to-maintain-and-improve-quality-of-enhanced-recovery-pathways-for-elective-colorectal-surgery
#3
S Ramani Moonesinghe, Michael P W Grocott, Elliott Bennett-Guerrero, Roberto Bergamaschi, Vijaya Gottumukkala, Thomas J Hopkins, Stuart McCluskey, Tong J Gan, Michael Monty G Mythen, Andrew D Shaw, Timothy E Miller
BACKGROUND: This article sets out a framework for measurement of quality of care relevant to enhanced recovery pathways (ERPs) in elective colorectal surgery. The proposed framework is based on established measurement systems and/or theories, and provides an overview of the different approaches for improving clinical monitoring, and enhancing quality improvement or research in varied settings with different levels of available resources. METHODS: Using a structure-process-outcome framework, we make recommendations for three hierarchical tiers of data collection...
2017: Perioperative Medicine
https://www.readbyqxmd.com/read/28331362/anesthesia-for-the-patient-undergoing-total-knee-replacement-current-status-and-future-prospects
#4
REVIEW
Zachary A Turnbull, Dahniel Sastow, Gregory P Giambrone, Tiffany Tedore
Total knee arthroplasty (TKA) has become one of the most common orthopedic surgical procedures performed nationally. As the population and surgical techniques for TKAs have evolved over time, so have the anesthesia and analgesia used for these procedures. General anesthesia has been the dominant form of anesthesia utilized for TKA in the past, but regional anesthetic techniques are on the rise. Multiple studies have shown the potential for regional anesthesia to improve patient outcomes, such as a decrease in intraoperative blood loss, length of stay, and patient mortality...
2017: Local and Regional Anesthesia
https://www.readbyqxmd.com/read/28330960/a-multi-institutional-study-of-brainstem-gliomas-in-children-with-neurofibromatosis-type-1
#5
Jasia Mahdi, Amish C Shah, Aimee Sato, Stephanie M Morris, Robert C McKinstry, Robert Listernick, Roger J Packer, Michael J Fisher, David H Gutmann
OBJECTIVE: To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1). METHODS: We performed a retrospective cross-sectional study of 133 children with NF1 and concurrent BSGs cared for at 4 NF1 referral centers. BSG was determined using radiographic criteria. Age at diagnosis, tumor location and appearance, clinical symptoms, treatment, and presence of a concurrent optic pathway glioma were assessed...
March 22, 2017: Neurology
https://www.readbyqxmd.com/read/28330941/nurse-driven-clinical-pathway-for-inpatient-asthma-a-randomized-controlled-trial
#6
Catherine M Pound, Victoria Gelt, Salwa Akiki, Kaylee Eady, Katherine Moreau, Franco Momoli, Barbara Murchison, Roger Zemek, Brett Mulholland, Tom Kovesi
OBJECTIVE: We examined the impact of a nurse-driven clinical pathway on length of stay (LOS) for children hospitalized with asthma. METHODS: We conducted a randomized controlled trial involving children hospitalized with asthma. Nurses of children in the intervention group weaned salbutamol frequency using an asthma scoring tool, whereas physicians weaned salbutamol frequency for the control group patients as per standard care. The primary outcome was LOS in hours...
March 22, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28330808/germline-genetic-biomarkers-of-sunitinib-efficacy-in-advanced-renal-cell-carcinoma-results-from-the-renal-effect-trial
#7
Robert J Motzer, Robert A Figlin, Jean-François Martini, Subramanian Hariharan, Neeraj Agarwal, Chun Xiao Li, J Andrew Williams, Thomas E Hutson
BACKGROUND: Sunitinib, the vascular endothelial growth factor pathway inhibitor, is an established standard-of-care for advanced renal cell carcinoma (RCC). This study aimed to assess correlations between candidate germline single nucleotide polymorphisms (SNPs) and sunitinib efficacy in patients from the RENAL EFFECT trial (NCT00267748), a randomized phase II study in patients with metastatic RCC comparing the 4-weeks-on/2-weeks-off schedule and a continuous daily dosing schedule. PATIENTS AND METHODS: Informed consent for pharmacogenetics research was obtained from 202 out of 289 treated patients in the trial...
February 27, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28330486/relationships-between-structure-process-and-outcome-to-assess-quality-of-integrated-chronic-disease-management-in-a-rural-south-african-setting-applying-a-structural-equation-model
#8
Soter Ameh, Francesc Xavier Gómez-Olivé, Kathleen Kahn, Stephen M Tollman, Kerstin Klipstein-Grobusch
BACKGROUND: South Africa faces a complex dual burden of chronic communicable and non-communicable diseases (NCDs). In response, the Integrated Chronic Disease Management (ICDM) model was initiated in primary health care (PHC) facilities in 2011 to leverage the HIV/ART programme to scale-up services for NCDs, achieve optimal patient health outcomes and improve the quality of medical care. However, little is known about the quality of care in the ICDM model. The objectives of this study were to: i) assess patients' and operational managers' satisfaction with the dimensions of ICDM services; and ii) evaluate the quality of care in the ICDM model using Avedis Donabedian's theory of relationships between structure (resources), process (clinical activities) and outcome (desired result of healthcare) constructs as a measure of quality of care...
March 23, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28328372/psychiatric-genomics-and-mental-health-treatment-setting-the-ethical-agenda
#9
Camillia Kong, Michael Dunn, Michael Parker
Realizing the benefits of translating psychiatric genomics research into mental health care is not straightforward. The translation process gives rise to ethical challenges that are distinctive from challenges posed within psychiatric genomics research itself, or that form part of the delivery of clinical psychiatric genetics services. This article outlines and considers three distinct ethical concerns posed by the process of translating genomic research into frontline psychiatric practice and policy making...
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28327491/narrative-based-medicine-as-a-tool-for-needs-assessment-of-patients-undergoing-hematopoietic-stem-cell-transplantation
#10
Gianpaolo Gargiulo, Vincenza Sansone, Teresa Rea, Giovanna Artioli, Stefano Botti, Grazia Isabella Continisio, Paola Ferri, Daniela Masi, Antonio Maria Risitano, Silvia Simeone, Rachele La Sala
BACKGROUND AND AIM: In the last years we have seen an ever increasing number of patients with haematologic disorders who need hematopoietic stem cell transplantation (HSCT). The whole sector of HSCT results, infact to be in a continous scientific and technological clinical progress, offering a very advanced care. Despite this, some aspects are underconsidered, some of which could be fundamental to determine the success of the care pathway, such as the experience of the illness by the patient...
March 14, 2017: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/28325756/a-novel-role-for-myeloid-cell-specific-neuropilin-1-in-mitigating-sepsis
#11
Xiaoyan Dai, Imoh Okon, Zhaoyu Liu, Yue Wu, Huaiping Zhu, Ping Song, Ming-Hui Zou
Sepsis-typically caused by an uncontrolled and amplified host systemic inflammatory response to microbial infection-is a life-threatening complex clinical disorder and remains a major cause of infection-related deaths in the intensive care unit. Emerging evidence suggests that neuropilin 1 (Nrp1), an originally defined coreceptor for class 3 semaphorins and VEGF, plays important roles in the immune system; however, the function and regulation of macrophage Nrp1 in host immune defense against bacterial infection remain unknown...
March 21, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28325621/-diplopia-an-important-symptom-in-internal-medicine
#12
S Bidot, V Biousse
Diplopia is defined as "double vision" when looking at a single object. Monocular diplopia is related to an ocular disorder and must be differentiated from binocular diplopia which is secondary to ocular misalignment. The examination of the patient with binocular diplopia is often challenging for non-specialists. However, a careful and systematic clinical examination followed by targeted ancillary testing allows the clinician to localize the lesion along the oculomotor pathways. The lesion may involve the brainstem, the ocular motor nerves III, IV or VI, the neuromuscular junction, the extraocular ocular muscles, or the orbit...
March 18, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28324286/prolymphocytic-leukemia-new-insights-in-diagnosis-and-in-treatment
#13
REVIEW
Aude Collignon, Anne Wanquet, Elsa Maitre, Edouard Cornet, Xavier Troussard, Thérèse Aurran-Schleinitz
PURPOSE OF REVIEW: We aimed to produce a comprehensive update on clinical and biological data regarding two rare lymphoid neoplasms, B and T prolymphocytic leukemias, and assess therapeutic management in the light of new molecular insights and the advent of targeted therapies. RECENT FINDINGS: B cell prolymphocytic leukemia (B-PLL) diagnosis remains challenging in the absence of clear immunophenotypic or cytogenetic signature and overlap with mantle cell lymphoma...
April 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28324046/characteristics-of-pediatric-vs-adult-pheochromocytomas-and-paragangliomas
#14
Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared to adults. Hereditary PPGLs can be separated into two groups: cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways respectively. Objective: To identify differences in presentation of PPGLs between children and adults. Design: A retrospective cross-sectional clinical study...
January 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323337/treatment-pathway-of-bone-sarcoma-in-children-adolescents-and-young-adults
#15
REVIEW
Damon R Reed, Masanori Hayashi, Lars Wagner, Odion Binitie, Diana A Steppan, Andrew S Brohl, Eric T Shinohara, Julia A Bridge, David M Loeb, Scott C Borinstein, Michael S Isakoff
When pediatric, adolescent, and young adult patients present with a bone sarcoma, treatment decisions, especially after relapse, are complex and require a multidisciplinary approach. This review presents scenarios commonly encountered in the therapy of bone sarcomas with the goal of objectively presenting a consensus, multidisciplinary management approach. Little variation was found in the authors' group with respect to local control or systemic therapy. Clinical trials were universally prioritized in all settings...
March 21, 2017: Cancer
https://www.readbyqxmd.com/read/28321285/role-of-preliminary-registry-data-in-development-of-a-clinical-trial-for-an-innovative-device-a-small-but-integral-piece-of-a-health-policy-initiative
#16
Donald R Ricci, Joost de Vries, Raphael Blanc
Establishing a national health policy at a macro level involves the integration of a series of health initiatives across a spectrum of activities, including clinical care. Evaluation of the safety and efficacy of a new medical device ultimately evolves to testing in humans. The pathway to a formal prospective clinical trial includes a stepwise appreciation of pre-clinical data and detailed analysis of data obtained from preliminary registries, where information about appropriate patient selection and use of the device is obtained...
2017: Journal of Market Access & Health Policy
https://www.readbyqxmd.com/read/28319481/application-of-telepractice-for-head-and-neck-cancer-management-a-review-of-speech-language-pathology-service-models
#17
Elizabeth C Ward, Laurelie R Wall, Clare L Burns, Bena Cartmill, Anne J Hill
PURPOSE OF REVIEW: Head and neck cancer (HNC) is a complex and heterogeneous disease, requiring specialist intervention from a multidisciplinary team including speech language pathology (SLP). Unfortunately, multiple patient and service-related challenges exist which currently limit equitable access to SLP support for all individuals. This review highlights the existing evidence for different telepractice models designed to help patients and services optimize management of swallowing and communication disorders arising from HNC...
March 17, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28318768/clinical-development-strategy-for-a-candidate-group-a-streptococcal-vaccine
#18
REVIEW
Florian Schödel, Nicole J Moreland, Janet T Wittes, Kim Mulholland, Ian Frazer, Andrew C Steer, John D Fraser, Jonathan Carapetis
GroupA streptococci (GAS) cause a wide spectrum of diseases ranging from benign pharyngitis and skin infections to severe invasive disease and the immune sequelae rheumatic fever and rheumatic heart disease. Pharyngitis, one of the most frequent diseases caused by GAS, is highly prevalent in school-age children in temperate climates and a major cause of antibiotic use. An efficacious vaccine would reduce disease burden associated with pharyngitis and the need of care for sick children. Importantly, GAS pharyngitis is recognised as the main precursor for acute rheumatic fever so a vaccine that is efficacious against GAS pharyngitis should also prevent acute rheumatic fever and rheumatic heart disease...
March 16, 2017: Vaccine
https://www.readbyqxmd.com/read/28302915/sex-differences-in-ischaemic-stroke-potential-cellular-mechanisms
#19
REVIEW
Anjali Chauhan, Hope Moser, Louise D McCullough
Stroke remains a leading cause of mortality and disability worldwide. More women than men have strokes each year, in part because women live longer. Women have poorer functional outcomes, are more likely to need nursing home care and have higher rates of recurrent stroke compared with men. Despite continued advancements in primary prevention, innovative acute therapies and ongoing developments in neurorehabilitation, stroke incidence and mortality continue to increase due to the aging of the U.S. POPULATION: Sex chromosomes (XX compared with XY), sex hormones (oestrogen and androgen), epigenetic regulation and environmental factors all contribute to sex differences...
April 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28302750/the-clinical-frailty-scale-upgrade-your-eyeball-test
#20
Jonathan Afilalo
With the emergence of transcatheter aortic valve replacement (TAVR) as a therapeutic option to treat high-risk older adults suffering from aortic stenosis, the geriatric concept of frailty has assumed mainstream relevance for cardiovascular practitioners. We have eagerly adopted tools to objectify the definition of frailty and accordingly discern good and bad candidates among a pool of complex octogenarians with multiple chronic conditions - a daunting yet mission-critical task. Initial studies published during the first half of this decade revealed that frailty status was one of the top predictors of mid-term mortality and incident disability after TAVR1, leading to its integration in clinical care pathways and predictive risk models...
March 16, 2017: Circulation
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