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https://www.readbyqxmd.com/read/29778231/clinical-germline-diagnostic-exome-sequencing-for-hereditary-cancer-findings-within-novel-candidate-genes-are-prevalent
#1
Zöe Powis, Carin R Espenschied, Holly LaDuca, Kelly D Hagman, Tripti Paudyal, Shuwei Li, Hiroto Inaba, Ann Mauer, Katherine L Nathanson, James Knost, Elizabeth C Chao, Sha Tang
Clinical diagnostic exome sequencing (DES) has been effective in diagnosing individuals with suspected genetic conditions; nevertheless little has been described regarding its clinical utility in individuals with a personal and family history of cancer. This study aimed to assess diagnostic yield and clinical characteristics of pediatric and adult patients undergoing germline DES for hereditary cancer. We retrospectively reviewed 2171 patients referred for DES; cases with a personal and/or family history of cancer were further studied...
August 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29775964/time-matters-for-intersex-bodies-between-socio-medical-time-and-somatic-time
#2
Limor Meoded Danon
This article focuses on the dynamic relationships between time and intersex bodies that exist, on the one hand, in medical policy on intersex bodies and, on the other, in intersex people's subjective experiences. Time, from a sociological perspective, is a biosocial agent that establishes diagnostic practices, regulations, and treatment policy regarding intersex bodies. The systematic construction of timeframes by biomedical professionals aims to rapidly diagnose and treat intersex patients and is deeply rooted in the "dimorphic soma-gender order" (DMSGO), the imagined unified relationship of female bodies to femininity and male bodies to masculinity...
May 8, 2018: Social Science & Medicine
https://www.readbyqxmd.com/read/29774765/-staying-safe-a-narrative-review-of-falls-prevention-in-people-with-parkinson-s-pdsafe
#3
Sophia Hulbert, Lynn Rochester, Alice Nieuwboer, Vicki Goodwin, Carolyn Fitton, Kim Chivers-Seymour, Ann Ashburn
BACKGROUND: Parkinson's disease demonstrates a spectrum of motor and non-motor symptoms. Falling is common and disabling. Current medical management shows minimal impact to reduce falls or fall-related risk factors, such as deficits in gait, strength, and postural instability. Despite evidence supporting rehabilitation in reducing fall risk factors, the most appropriate intervention to reduce overall fall rate remains inconclusive. This article aims to 1) synthesise current evidence and conceptual models of falls rehabilitation in Parkinson's in a narrative review; and based on this evidence, 2) introduce the treatment protocol used in the falls prevention and multi-centre clinical trial "PDSAFE"...
May 18, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29773081/long-term-familial-mediterranean-fever-remission-on-successful-hepatitis-c-virus-treatment-in-a-patient-not-responding-to-colchicine-a-case-report
#4
Manik Gemilyan, Gagik Hakobyan, Susanna Ananyan
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma...
May 18, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29772964/incidence-of-arterial-catheter-complications-a-retrospective-study-of-35-cats-2010-2014
#5
Shaina Mooshian, Sarah J Deitschel, Jamie M Haggerty, Christine L Guenther
Objectives The aim of this study was to investigate the incidence of complications associated with arterial catheterization in cats in a veterinary hospital, and to document which factors may increase the incidence of complications. Methods Medical records at a referral veterinary hospital were retrospectively reviewed to identify cats that had an arterial catheter placed between January 2010 and October 2014. Results Thirty-five cats having 38 arterial catheters were included in the study. There was a relatively high incidence of minor complications (23...
May 1, 2018: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/29770496/long-term-survival-and-loss-in-expectancy-of-life-in-a-population-based-cohort-of-7114-patients-with-diffuse-large-b-cell-lymphoma
#6
Sara Ekberg, Mats Jerkeman, Per-Ola Andersson, Gunilla Enblad, Björn E Wahlin, Sverker Hasselblom, Therese M Andersson, Sandra Eloranta, Karin E Smedby
Survival has improved among patients with diffuse large B-cell lymphoma (DLBCL) with the addition of anti-CD20 antibody therapy. We aimed to quantify trends and remaining loss in expectation of life (LEL) due to DLBCL at a national population-based level. Patients diagnosed with DLBCL 2000-2013 (N=7114) were identified through the Swedish Lymphoma Registry and classified according to the age-adjusted International Prognostic Index (aaIPI).The novel measure LEL is the difference between remaining life years among patients and the general population and was predicted using flexible parametric models from diagnosis and among 2-year survivors, by age and sex...
May 17, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29769017/a-cross-sectional-investigation-of-the-health-needs-of-asylum-seekers-in-a-refugee-clinic-in-germany
#7
Laura F Goodman, Guy W Jensen, Joseph M Galante, Diana L Farmer, Stephanie Taché
BACKGROUND: Over one million asylum seekers were registered in Germany in 2016, most from Syria and Afghanistan. The Refugee Convention guarantees access to healthcare, however delivery mechanisms remain heterogeneous. There is an urgent need for more data describing the health conditions of asylum seekers to guide best practices for healthcare delivery. In this study, we describe the state of health of asylum seekers presenting to a multi-specialty primary care refugee clinic. METHODS: Demographic and medical diagnosis data were extracted from the electronic medical records of patients seen at the ambulatory refugee clinic in Dresden, Germany between 15 September 2015 and 31 December 2016...
May 16, 2018: BMC Family Practice
https://www.readbyqxmd.com/read/29765459/the-number-of-strata-in-propensity-score-stratification-for-a-binary-outcome
#8
Markus Neuhäuser, Matthias Thielmann, Graeme D Ruxton
Introduction: Non-interventional and other observational studies have become important in medical research. In such observational, non-randomized studies, groups usually differ in some baseline covariates. Propensity scores are increasingly being used in the statistical analysis of these studies. Stratification, also called subclassification, based on propensity scores is one of the possible methods. There is the quasi-standard of using five strata. In this paper we focus on a binary outcome and evaluate the above-mentioned standard of using five strata...
April 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29765168/mucosal-delivery-systems-of-antihypertensive-drugs-a-practical-approach-in-general-practice
#9
Lukasz P Bialy, Cezary Wojcik, Izabela Mlynarczuk-Bialy
Patients who are unable to receive oral medication (p.o.) are a major problem in outpatient settings, especially in home health care systems. Mucosal administration of drugs offers an alternative to the oral route, especially when the parenteral mode cannot be used. There are three main pathways of mucosal administration: sublingual/buccal, intranasal and rectal. We discuss the possibility of mucosal delivery of antihypertensive drugs. Perindopril arginine and Amlodipine besylate are registered in the EU as orodispersible tablets for oromucosal delivery, however, they are not available in all countries...
May 15, 2018: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/29764173/developing-palliative-care-programs-in-indigenous-communities-using-participatory-action-research-a-canadian-application-of-the-public-health-approach-to-palliative-care
#10
Mary Lou Kelley, Holly Prince, Shevaun Nadin, Kevin Brazil, Maxine Crow, Gaye Hanson, Luanne Maki, Lori Monture, Christopher J Mushquash, Valerie O'Brien, Jeroline Smith
BACKGROUND: The Indigenous people of Canada include First Nations, Inuit and Metis. This research focused on four diverse First Nations communities located in Ontario and Manitoba. First Nations communities have well-established culturally-based social processes for supporting their community members experiencing dying, loss, grief and bereavement. However, communities do not have formalized local palliative care (PC) programs and have limited access to medical services, especially pain and symptom management...
April 2018: Annals of Palliative Medicine
https://www.readbyqxmd.com/read/29761138/integrating-parenting-support-within-and-beyond-the-pediatric-medical-home
#11
Julie M Linton, Maria Paz Stockton, Berta Andrade, Stephanie Daniel
Positive parenting programs, developmental support services, and evidence-based home visiting programs can effectively provide parenting support and improve health and developmental outcomes for at-risk children. Few models, however, have integrated referrals for on-site support and home visiting programs into the provision of routine pediatric care within a medical home. This article describes an innovative approach, through partnership with a community-based organization, to deliver on-site and home visiting support services for children and families within and beyond the medical home...
2018: Global Pediatric Health
https://www.readbyqxmd.com/read/29759049/klinefelter-s-syndrome-with-lupus-encephalitis-and-retroperitoneal-teratoma
#12
C Ng Wq, S E Eide, Huang J, Khor Ym
We report a case of a middle-aged male who presented with pyrexia of unknown origin, oral ulcers, rash and bicytopenia. His past medical history included unexplained proteinuria, infertility and joint pain. Initial workup showed a large retroperitoneal soft tissue mass, which has appeared stable for 10 years. He subsequently developed neuropsychiatric symptoms with imaging findings of meningoencephalitis. Concurrent investigations showed elevated ANA, anti-double-stranded DNA (dsDNA) and ESR levels, as well as low complement levels...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29755904/radiation-induced-cavernous-malformation-as-a-late-sequelae-of-stereotactic-radiosurgery-for-epilepsy
#13
Ethan A Winkler, Caleb Rutledge, Mariann Ward, Tarik Tihan, Patricia K Sneed, Nicholas Barbaro, Paul Garcia, Michael McDermott, Edward F Chang
Stereotactic radiosurgery (SRS) is a promising treatment for medically intractable mesial temporal lobe epilepsy. SRS for epilepsy has had an acceptable safety profile with reports of radiation-induced vascular malformations confined to central nervous system pathologies with prominent angiogenesis - namely, primary brain tumors, metastases, and arteriovenous malformations. Theoretical risks for radiation-induced lesions following radiosurgery for epilepsy have yet to be established. Of 13 patients treated in a pilot trial for medial temporal lobe epilepsy, one developed multiple delayed radiation-induced cavernous malformations following radiosurgery...
March 11, 2018: Curēus
https://www.readbyqxmd.com/read/29754433/unsung-heroes-flying-blind-a-metasynthesis-of-parents-experiences-of-caring-for-children-with-special-health-care-needs-at-home
#14
Carina Nygård, Anne Clancy
AIMS AND OBJECTIVES: To aggregate, synthesize and interpret qualitative research studies of parents' experiences of caring for a child with special health care needs at home. BACKGROUND: Advances in the field of medical and nursing science have ensured better survival rates for children with chronic illnesses. Many of these children have significant special health care needs. Today parents assume a caregiver role, undertaking tasks previously provided by nurses in hospitals...
May 13, 2018: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29753346/clinical-outcome-assessments-use-of-normative-data-in-a-pediatric-rare-disease
#15
Dawn Phillips, Beth Leiro
Pediatric rare diseases present unique challenges in clinical trial design and in selection of clinical outcome assessments (COAs) used to support claims in medical product labeling. COAs that discriminate level of function relative to a normative sample are particularly important in the pediatric rare disease setting because the literature is often void of natural history data. Pediatric rare disease clinical trials will often include a wide age distribution. Gross and fine motor skills, communication, cognition, and independence in activities of daily living vary by age, and it may be difficult to distinguish between treatment effect and change due to developmental maturation...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29751237/current-anti-diabetic-agents-and-their-molecular-targets-a-review
#16
REVIEW
Nagaraju Kerru, Ashona Singh-Pillay, Paul Awolade, Parvesh Singh
Diabetes mellitus is a medical condition characterized by the body's loss of control over blood sugar. The frequency of diagnosed cases and consequential increases in medical costs makes it a rapidly growing chronic disease that threatens human health worldwide. In addition, its unnerving statistical projections are perilous to both the economy of the nation and man's life expectancy. Type-I and type-II diabetes are the two clinical forms of diabetes mellitus. Type-II diabetes mellitus (T2DM) is illustrated by the abnormality of glucose homeostasis in the body, resulting in hyperglycemia...
May 3, 2018: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29749748/artibiotics-the-medical-illustration-of-dr-cil%C3%A3-in-kearns
#17
Ciléin Kearns
No abstract text is available yet for this article.
May 11, 2018: Journal of Visual Communication in Medicine
https://www.readbyqxmd.com/read/29748967/bivariate-random-effects-meta-analysis-models-for-diagnostic-test-accuracy-studies-using-arcsine-based-transformations
#18
Zelalem F Negeri, Mateen Shaikh, Joseph Beyene
Diagnostic or screening tests are widely used in medical fields to classify patients according to their disease status. Several statistical models for meta-analysis of diagnostic test accuracy studies have been developed to synthesize test sensitivity and specificity of a diagnostic test of interest. Because of the correlation between test sensitivity and specificity, modeling the two measures using a bivariate model is recommended. In this paper, we extend the current standard bivariate linear mixed model (LMM) by proposing two variance-stabilizing transformations: the arcsine square root and the Freeman-Tukey double arcsine transformation...
May 11, 2018: Biometrical Journal. Biometrische Zeitschrift
https://www.readbyqxmd.com/read/29741607/modeling-recovery-curves-with-application-to-prostatectomy
#19
Fulton Wang, Cynthia Rudin, Tyler H Mccormick, John L Gore
In many clinical settings, a patient outcome takes the form of a scalar time series with a recovery curve shape, which is characterized by a sharp drop due to a disruptive event (e.g., surgery) and subsequent monotonic smooth rise towards an asymptotic level not exceeding the pre-event value. We propose a Bayesian model that predicts recovery curves based on information available before the disruptive event. A recovery curve of interest is the quantified sexual function of prostate cancer patients after prostatectomy surgery...
May 5, 2018: Biostatistics
https://www.readbyqxmd.com/read/29739741/public-opinions-toward-diseases-infodemiological-study-on-news-media-data
#20
Ming Huang, Omar ElTayeby, Maryam Zolnoori, Lixia Yao
BACKGROUND: Society always has limited resources to expend on health care, or anything else. What are the unmet medical needs? How do we allocate limited resources to maximize the health and welfare of the people? These challenging questions might be re-examined systematically within an infodemiological frame on a much larger scale, leveraging the latest advancement in information technology and data science. OBJECTIVE: We expanded our previous work by investigating news media data to reveal the coverage of different diseases and medical conditions, together with their sentiments and topics in news articles over three decades...
May 8, 2018: Journal of Medical Internet Research
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