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https://www.readbyqxmd.com/read/29151245/hearing-impairment-caused-by-mutations-in-two-different-genes-responsible-for-nonsyndromic-and-syndromic-hearing-loss-within-a-single-family
#1
Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska
Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic...
November 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29151231/sleep-medicine-is-coming-of-age-in-military-medicine-report-from-the-military-health-system-research-symposium-2017-in-kissimmee-florida
#2
Arn H Eliasson, Christopher Lettieri, Nikolaus Netzer
In August 2017, the US Military Health System held its sixth annual Research Symposium for medical researchers from the US Army, Navy, Air Force, and Public Health Service. The symposium provides a collaborative environment for academia, industry, and military researchers who address advancement in areas of Combat Casualty Care, Military Operational Medicine, Clinical and Rehabilitative Medicine, and Military Infectious Diseases. This year, Sleep Medicine received substantial attention with presentations scattered throughout the program, poster presentations as well as a scheduled breakout session with podium presentations...
November 18, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/29151229/effects-of-female-sex-steroids-administration-on-pathophysiologic-mechanisms-in-traumatic-brain-injury
#3
REVIEW
Mohammad Khaksari, Zahra Soltani, Nader Shahrokhi
Secondary brain damage following initial brain damage in traumatic brain injury (TBI) is a major cause of adverse outcomes. There are many gaps in TBI research and a lack of therapy to limit debilitating outcomes in TBI or enhance the neurogenesis, despite pre-clinical and clinical research performed in TBI. Females show harmful outcomes against brain damage including TBI less than males, independent of different TBI occurrence. A significant reduction in secondary brain damage and improvement in neurologic outcome post-TBI has been reported following the use of progesterone and estrogen in many experimental studies...
November 19, 2017: Translational Stroke Research
https://www.readbyqxmd.com/read/29151194/highly-immersive-virtual-reality-laparoscopy-simulation-development-and-future-aspects
#4
Tobias Huber, Tom Wunderling, Markus Paschold, Hauke Lang, Werner Kneist, Christian Hansen
PURPOSE: Virtual reality (VR) applications with head-mounted displays (HMDs) have had an impact on information and multimedia technologies. The current work aimed to describe the process of developing a highly immersive VR simulation for laparoscopic surgery. METHODS: We combined a VR laparoscopy simulator (LapSim) and a VR-HMD to create a user-friendly VR simulation scenario. Continuous clinical feedback was an essential aspect of the development process. We created an artificial VR (AVR) scenario by integrating the simulator video output with VR game components of figures and equipment in an operating room...
November 18, 2017: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/29151168/strengthening-validity-in-studies-of-pelvic-floor-disorders-through-qualitative-research-an-example-from-ethiopia
#5
Astrid Blystad, Guri Rortveit, Janne Lillelid Gjerde, Mulu Muleta, Karen Marie Moland
INTRODUCTION AND HYPOTHESIS: This formative qualitative follow-up study addresses validity concerns in the Dabat Incontinence and Prolapse (DABINCOP) study, which aimed to determine the prevalence of pelvic floor disorders in north-west Ethiopia. A pilot study using a questionnaire validated by pelvic exam showed severe underreporting of clinically relevant pelvic organ prolapse (POP). The objective of the follow-up study was to explore the reasons behind the underreporting and to gather information to strengthen the sensitivity and local relevance of the questionnaire to be employed in the main study...
November 18, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/29151150/a-comparison-of-cancer-risk-assessment-and-testing-outcomes-in-patients-from-underserved-vs-tertiary-care-settings
#6
Huma Q Rana, Sarah R Cochrane, Elaine Hiller, Ruth N Akindele, Callie M Nibecker, Ludmila A Svoboda, Angel M Cronin, Judy E Garber, Christopher S Lathan
In cancer genetics, technological advances (next generation sequencing) and the expansion of genetic test options have resulted in lowered costs and increased access to genetic testing. Despite this, the majority of patients utilizing cancer genetics services lack diversity of gender, ethnicity, and socioeconomic status. Through retrospective chart review, we compared outcomes of cancer genetics consultations at a tertiary cancer center and a Federally Qualified Health Center (FQHC) (58 tertiary and 23 FQHC patients) from 2013 to 2015...
November 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29151148/development-and-preliminary-validation-of-the-food-intolerance-quality-of-life-questionnaire-fiqlq-adult-form
#7
Audrey DunnGalvin, Julie Barnett, Fiona M Begen, Kathleen Ryan, Jane S Lucas
BACKGROUND: Approximately 20% of children and adults avoid certain foods because of perceived food intolerance. Valid and reliable health-related quality of life instruments are needed to measure changes following clinical, therapeutic or policy interventions. However, there are no disease-specific quality of life instruments for adults with food intolerances. OBJECTIVE: To develop the Food Intolerance Quality of Life Questionnaire FIQLQ. Then to conduct psychometric validation including reliability and construct validity...
November 18, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/29151092/conversion-factitious-disorder-and-malingering-a-distinct-pattern-or-a-continuum
#8
Silvio Galli, Laurent Tatu, Julien Bogousslavsky, Selma Aybek
This chapter is aimed at highlighting the recent findings concerning physiopathology, diagnosis, and management of conversion, factitious disorder, and malingering. Conversion disorder is the unintentional production of neurological symptom, whereas malingering and factitious disorder represent the voluntary production of symptoms with internal or external incentives. They have a close history and this has been frequently confounded. Practitioners are often confronted to medically unexplained symptoms; they represent almost 30% of neurologist's consultation...
2018: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/29151054/effect-of-ephedrine-and-phenylephrine-on-brain-oxygenation-and-microcirculation-in-anaesthetised-patients-with-cerebral-tumours-study-protocol-for-a-randomised-controlled-trial
#9
Klaus Ulrik Koch, Anna Tietze, Joel Aanerud, Gorm von Öettingen, Niels Juul, Jens Christian Hedemann Sørensen, Lone Nikolajsen, Leif Østergaard, Mads Rasmussen
INTRODUCTION: During brain tumour surgery, vasopressor drugs are commonly administered to increase mean arterial blood pressure with the aim of maintaining sufficient cerebral perfusion pressure. Studies of the commonly used vasopressors show that brain oxygen saturation is reduced after phenylephrine administration, but unaltered by ephedrine administration. These findings may be explained by different effects of phenylephrine and ephedrine on the cerebral microcirculation, in particular the capillary transit-time heterogeneity, which determines oxygen extraction efficacy...
November 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/29150995/efficacy-and-safety-of-extracranial-vein-angioplasty-in-multiple-sclerosis-a-randomized-clinical-trial
#10
Paolo Zamboni, Luigi Tesio, Stefania Galimberti, Luca Massacesi, Fabrizio Salvi, Roberto D'Alessandro, Patrizia Cenni, Roberto Galeotti, Donato Papini, Roberto D'Amico, Silvana Simi, Maria Grazia Valsecchi, Graziella Filippini
Importance: Chronic cerebrospinal venous insufficiency (CCSVI) is characterized by restricted venous outflow from the brain and spinal cord. Whether this condition is associated with multiple sclerosis (MS) and whether venous percutaneous transluminal angioplasty (PTA) is beneficial in persons with MS and CCSVI is controversial. Objective: To determine the efficacy and safety of venous PTA in patients with MS and CCSVI. Design, Setting, and Participants: We analyzed 177 patients with relapsing-remitting MS; 62 were ineligible, including 47 (26...
November 18, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29150972/patient-level-factors-and-the-quality-of-care-delivered-in-pediatric-emergency-departments
#11
James P Marcin, Patrick S Romano, Parul Dayal, Madan Dharmar, James M Chamberlain, Nanette Dudley, Charles G Macias, Lise E Nigrovic, Elizabeth C Powell, Alexander J Rogers, Meridith Sonnett, Leah Tzimenatos, Elizabeth R Alpern, Rebecca Andrews-Dickert, Dominic A Borgialli, Erika Sidney, T Charles Casper, J Michael Dean, Nathan Kuppermann
OBJECTIVE: Quality of care delivered to adult patients in the emergency department (ED) is often associated with demographic and clinical factors such as a patient's race/ethnicity and insurance status. We sought to determine whether the quality of care delivered to children in the ED was associated with a variety of patient-level factors. METHODS: This was a retrospective, observational cohort study. Pediatric patients (<18 years) who received care between January 2011 and December 2011 at one of twelve EDs participating in the Pediatric Emergency Care Applied Research Network (PECARN) were included...
November 18, 2017: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/29150944/toll-like-receptor-signaling-pathway-as-a-potential-therapeutic-target-in-colorectal-cancer
#12
REVIEW
Reyhaneh Moradi-Marjaneh, Seyed Mahdi Hassanian, Hamid Fiuji, Saman Soleimanpour, Gordon A Ferns, Amir Avan, Majid Khazaei
Toll like receptor (TLR) signaling is involved in activating innate and adaptive immune responses and plays a critical role in inflammation-induced diseases such as colorectal cancer (CRC). Dysregulation of this signaling pathway can result in disturbance of epithelial layer hemostasis, chronic inflammatory, excessive repair responses and development of CRC. There is now substantial evidence for the benefit of targeting of this pathway in cancer treatment, and several agents have been approved, such as BCG (Bacillus Calmette Guérin), MPL (monophosphoryl lipid A) and imiquimod...
November 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29150937/cgmp-production-and-analysis-of-bg505-sosip-664-an-extensively-glycosylated-trimeric-hiv-1-envelope-glycoprotein-vaccine-candidate
#13
Antu K Dey, Albert Cupo, Gabriel Ozorowski, Vaneet K Sharma, Anna-Janina Behrens, Eden P Go, Thomas J Ketas, Anila Yasmeen, Per J Klasse, Eddy Sayeed, Heather Desaire, Max Crispin, Ian A Wilson, Rogier W Sanders, Thomas Hassell, Andrew Ward, John P Moore
We describe the properties of BG505 SOSIP.664 HIV-1 envelope glycoprotein trimers produced under current Good Manufacturing Practice (cGMP) conditions. These proteins are the first of a new generation of native-like trimers that are the basis for many structure-guided immunogen development programs aimed at devising how to induce broadly neutralizing antibodies (bNAbs) to HIV-1 by vaccination. The successful translation of this prototype demonstrates the feasibility of producing similar immunogens on an appropriate scale and of an acceptable quality for Phase I experimental medicine clinical trials...
November 18, 2017: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/29150890/suspended-animation-the-past-present-and-future-of-major-cardiothoracic-trauma
#14
REVIEW
Syed Mohiyaddin, Prakash Nanjaiah, Ahmed O Saad, Metesh N Acharya, Tanveer A Khan, Rhodri H Davies, Saeed Ashraf
About 50% of the trauma victims die at the scene mostly because of exsanguinating haemorrhage. Most trials of resuscitation fail in face of the ongoing bleeding. Ongoing research/studies to save these victims by inducing rapid hypothermia using cardiopulmonary bypass as an emergency initial measure along with delayed resuscitation show improved outcomes. A comprehensive review of this research and analysis of studies showed that rapid induction of hypothermia within 5 min of cardiac arrest is associated with better survival and improved neurological outcome...
November 18, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/29150875/treatment-of-acquired-thrombotic-thrombocytopenic-purpura-in-the-u-s-remains-heterogeneous-current-and-future-points-of-clinical-equipoise
#15
Marshall A Mazepa, Jay S Raval, Mark E Brecher, Yara A Park
BACKGROUND: The purpose of this survey was to describe current practices in the U.S. for treatment of acquired Thrombotic Thrombocytopenic Purpura (TTP), compare these with prior U.S. and current Canadian practices, and identify areas of clinical equipoise. STUDY DESIGN AND METHODS: A research team member administered the survey by telephone. Questions included an estimate of the annual patient volume treated, apheresis and medical therapy practices for acquired TTP...
November 18, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29150753/psychological-aspects-of-obesity-in-children-and-adolescents
#16
Rajesh Sagar, Tanu Gupta
Childhood obesity is multi factorial health condition, so the simple evaluation of body fat will not be sufficed to manage the global epidemic of childhood obesity. Literature consistently provides evidence for physical health risks associated with childhood obesity; however in recent times, mental health of the obese children has also gained attention of the researchers as well as clinicians. Obese children experience number of psycho-social problems that significantly affect their quality of life and wellbeing...
November 18, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29150561/influence-of-enzalutamide-on-cabazitaxel-pharmacokinetics-a-drug-drug-interaction-study-in-metastatic-castration-resistant-prostate-cancer-mcrpc-patients
#17
Bodine P S Belderbos, Sander Bins, Roelof W F van Leeuwen, Esther Oomen-de Hoop, Nelly van der Meer, Peter de Bruijn, Paul Hamberg, Esther N M Overkleeft, Wendy M van der Deure, Martijn Lolkema, Ronald de Wit, Ron H J Mathijssen
PURPOSE: In ongoing clinical research on metastatic castration-resistant prostate cancer (mCRPC) treatment, the potential enhanced efficacy of the combination of taxanes with AR-targeted agents, i.e. enzalutamide and abiraterone, is currently being explored. Since enzalutamide induces the CYP3A4 enzyme and taxanes are metabolized by this enzyme, a potential drug-drug interaction needs to be investigated. DESIGN: Therefore, we performed a pharmacokinetic cross-over study in mCRPC patients who were scheduled for treatment with cabazitaxel Q3W (25 mg/m(2))...
November 17, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29150473/patient-level-and-practice-level-factors-associated-with-consultation-duration-a-cross-sectional-analysis-of-over-one-million-consultations-in-english-primary-care
#18
Sarah Stevens, Clare Bankhead, Toqir Mukhtar, Rafael Perera-Salazar, Tim A Holt, Chris Salisbury, F D Richard Hobbs
OBJECTIVES: Consultation duration has previously been shown to be associated with patient, practitioner and practice characteristics. However, previous studies were conducted outside the UK, considered only small numbers of general practitioner (GP) consultations or focused primarily on practitioner-level characteristics. We aimed to determine the patient-level and practice-level factors associated with duration of GP and nurse consultations in UK primary care. DESIGN AND SETTING: Cross-sectional data were obtained from English general practices contributing to the Clinical Practice Research Datalink (CPRD) linked to data on patient deprivation and practice staffing, rurality and Quality and Outcomes Framework (QOF) achievement...
November 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/29150470/platelet-rich-plasma-in-achilles-tendon-healing-2-path-2-trial-protocol-for-a-multicentre-participant-and-assessor-blinded-parallel-group-randomised-clinical-trial-comparing-platelet-rich-plasma-prp-injection-versus-placebo-injection-for-achilles-tendon-rupture
#19
Joseph Alsousou, David J Keene, Philippa A Hulley, Paul Harrison, Susan Wagland, Christopher Byrne, Michael Maia Schlüssel, Susan J Dutton, Sarah E Lamb, Keith Willett
BACKGROUND: Achilles tendon injuries give rise to substantial long-lasting morbidity and pose considerable challenges for clinicians and patients during the lengthy healing period. Current treatment strategies struggle to curb the burden of this injury on health systems and society due to lengthy rehabilitation, work absence and reinjury risk. Platelet-rich plasma (PRP) is an autologous preparation that has been shown to improve the mechanobiological properties of tendons in laboratory and animal studies...
November 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/29150410/lung-function-in-early-adulthood-and-health-in-later-life-a-transgenerational-cohort-analysis
#20
Alvar Agustí, Guillaume Noell, Josep Brugada, Rosa Faner
BACKGROUND: Early life events can affect health in later life. We hypothesised that low lung function (FEV1 <80% predicted) in early adulthood (25-40 years) is associated with higher prevalence and earlier incidence of respiratory, cardiovascular, and metabolic abnormalities, and premature death. METHODS: In this cohort analysis, we tested this hypothesis using data from the Framingham Offspring Cohort (FOC) and validated our observations in CARDIA (an independent cohort) and GenIII (which includes the direct descendants of FOC participants)...
November 14, 2017: Lancet Respiratory Medicine
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