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https://www.readbyqxmd.com/read/29457878/genetic-determinants-of-heart-failure-facts-and-numbers
#1
EDITORIAL
Frauke S Czepluch, Bernd Wollnik, Gerd Hasenfuß
The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing...
February 19, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29457491/critical-care-pharmacists-and-medication-management-in-an-icu-recovery-center
#2
Joanna L Stollings, Sarah L Bloom, Li Wang, E Wesley Ely, James C Jackson, Carla M Sevin
BACKGROUND: Many patients experience complications following critical illness; these are now widely referred to as post-intensive care syndrome (PICS). An interprofessional intensive care unit (ICU) recovery center (ICU-RC), also known as a PICS clinic, is one potential approach to promoting patient and family recovery following critical illness. OBJECTIVES: To describe the role of an ICU-RC critical care pharmacist in identifying and treating medication-related problems among ICU survivors...
February 1, 2018: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/29457323/anticoagulation-knowledge-in-patients-with-atrial-fibrillation-an-australian-survey
#3
Kehinde O Obamiro, Leanne Chalmers, Kenneth Lee, Bonnie J Bereznicki, Luke R E Bereznicki
BACKGROUND: Atrial fibrillation (AF) is the most commonly diagnosed arrhythmia in clinical practice, and is associated with a significant medical and economic burden. Anticoagulants reduce the risk of stroke and systemic embolism by approximately two-thirds compared with no therapy. Knowledge regarding anticoagulant therapy can influence treatment outcomes in patients with AF. OBJECTIVE: To measure the level of anticoagulation knowledge in patients with AF taking oral anticoagulants (OACs), investigate the association between patient-related factors and anticoagulation knowledge, and compare these results in patients taking warfarin and direct-acting oral anticoagulant (DOACs)...
February 19, 2018: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/29456621/men-seeking-counselling-in-a-breast-cancer-risk-evaluation-clinic
#4
Ana Catarina Freitas, Ana Opinião, Sofia Fragoso, Hugo Nunes, Madalena Santos, Ana Clara, Sandra Bento, Ana Luis, Jorge Silva, Cecília Moura, Bruno Filipe, Patrícia Machado, Sidónia Santos, Saudade André, Paula Rodrigues, Joana Parreira, Fátima Vaz
Background: Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program. Methods: Descriptive analysis of male patients counselled from January 2000 to December 2015. Data in this analysis include new cancer diagnoses during prospective follow up. Results: From 4,320 families registered, 362 male patients were identified: 236 (65...
2018: Ecancermedicalscience
https://www.readbyqxmd.com/read/29456589/employment-status-and-changes-in-working-career-in-relation-to-asthma-a-cross-sectional-survey
#5
Saara Taponen, Lauri Lehtimäki, Kirsi Karvala, Ritva Luukkonen, Jukka Uitti
Background: Asthmatics confront inconveniences in working life that make it more difficult to pursue a sustainable career, such as unemployment and work disability. Ways of dealing with these inconveniences may be career changes. More needs to be known about the backgrounds and consequences of career changes among asthmatics, especially their relation to asthma or a change in asthma symptoms. The aim of this study was to compare earlier career changes of adults with asthma who are working full time to those who have drifted away from active working life because of work disability, unemployment or early retirement...
2018: Journal of Occupational Medicine and Toxicology
https://www.readbyqxmd.com/read/29456581/antenatal-diagnosis-of-total-anomalous-pulmonary-venous-connection-in-functional-single-ventricle-hearts-outcomes-over-13-year-period
#6
Precylia Fernandes, Lito Mantagou, Ram Ramaraj, Umber Agarwal, Joyce Su Ling Lim
Introduction: A functionally single cardiac ventricle seen on foetal ultrasound scan carries a guarded prognosis. The antenatal diagnosis of anomalous pulmonary venous connection (APVC) remains challenging, if there is no associated structural cardiac abnormality. Antenatally, a combination of complex cardiac anomaly with suspected isomerism should raise the possibility of associated total anomalous pulmonary venous connection (TAPVC). There needs to be a high index of suspicion for TAPVC, in functional single ventricle and suspected isomerism, as this carries a very grim outcome postnatally...
February 2018: Ultrasound: Journal of the British Medical Ultrasound Society
https://www.readbyqxmd.com/read/29456205/mutational-analysis-of-agxt-gene-in-libyan-children-with-primary-hyperoxaluria-type-1-at-tripoli-children-hospital
#7
Naziha R Rhuma, Omar A Fituri, Laila T Sabei
Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from genetic mutation of the AGXT gene. The study objective was to verify the clinical and epidemiological patterns of PH1 in Libyan children at Tripoli Children Hospital confirmed by AGXT gene mutation. A descriptive case series study of 53 children with PH1 diagnosed between 1994 and 2015 was carried out in the Nephrology Unit at Tripoli Children Hospital. Diagnosis of PH1 was based on the clinical presentation (renal stones or nephrocalcinosis), positive family history of PH1, and high 24 h urinary oxalate...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29456149/impact-of-a-universal-medication-schedule-on-rationalising-and-understanding-of-medication-a-randomised-controlled-trial
#8
Eimear McManus, Suzanne McCarthy, Raymond Carson, Laura J Sahm
BACKGROUND: Patients frequently encounter difficulty understanding their prescription drug labels. This problem is more common in patients with limited health literacy (HL). Patients are not always counselled on their medicines by their doctor or pharmacist, therefore this label can be an important source of information. OBJECTIVE: To assess the impact of a Universal Medication Schedule (UMS) on the knowledge and consolidation of a prescription drug regimen compared to standard pharmacy labelling...
February 10, 2018: Research in Social & Administrative Pharmacy: RSAP
https://www.readbyqxmd.com/read/29456025/effectiveness-of-user-and-expert-driven-web-based-hypertension-programs-an-rct
#9
Sam Liu, Dina Brooks, Scott G Thomas, Gunther Eysenbach, Robert P Nolan
INTRODUCTION: The effectiveness of self-guided Internet-based lifestyle counseling (e-counseling) varies, depending on treatment protocol. Two dominant procedures in e-counseling are expert- and user-driven. The influence of these procedures on hypertension management remains unclear. The objective was to assess whether blood pressure improved with expert-driven or user-driven e-counseling over control intervention in patients with hypertension over a 4-month period. STUDY DESIGN: This study used a three-parallel group, double-blind randomized controlled design...
February 15, 2018: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29455854/pathophysiology-and-management-of-mild-to-moderate-pediatric-atopic-dermatitis
#10
Kammi Yap Sayaseng, Peggy Vernon
Atopic dermatitis (AD), or eczema, is a chronic inflammatory skin condition characterized by relapsing pruritic and dry, scaly lesions. AD affects 10% to 20% of children in the United States and significantly affects the quality of life of patients and their families. Primary care providers (PCPs) are often the first point of contact for the management of AD symptoms. As many as 70% of patients with mild to moderate disease can be managed by a PCP, underscoring the need for these providers to understand basic AD pathophysiology and current standards of care...
March 2018: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/29455623/rare-case-of-bilateral-aural-atresia-and-cochlear-dysplasia-when-cochlear-implantation-is-not-the-answer
#11
Maja Svrakic
OBJECTIVE AND IMPORTANCE: Reports of patients with concurrent middle and inner ear anomalies are rare. These patients present a surgical challenge for cochlear implantation. The surgical risk must be weighed against the predicted benefit of the patient's hearing outcome and subsequent development of speech and language as well as their quality of life. CLINICAL PRESENTATION: Thirteen-year-old boy presented to the Otology clinic for auditory rehabilitation options...
February 17, 2018: Cochlear Implants International
https://www.readbyqxmd.com/read/29455475/nutrition-education-in-the-care-of-patients-with-chronic-kidney-disease-and-end-stage-renal-disease
#12
Cheryl A M Anderson, Hoang Anh Nguyen
Diet counseling and nutrition education are recommended in the prevention and management of chronic kidney disease (CKD) and end-stage renal disease (ESRD). The importance of effectively addressing nutrition with patients has grown given the increasing prevalence of obesity, hypertension, and diabetes; conditions which influence CKD/ESRD. Dietary advice for individuals with CKD/ESRD can be seen as complex; and successful dietary management requires careful planning, periodic assessment of nutritional status, as well as monitoring of dietary compliance...
February 18, 2018: Seminars in Dialysis
https://www.readbyqxmd.com/read/29455421/impact-of-baseline-characteristics-on-outcomes-of-advanced-hcc-patients-treated-with-sorafenib-a-secondary-analysis-of-a-phase-iii-study
#13
Omar Abdel-Rahman
BACKGROUND: The current study aims to investigate the impact of baseline characteristics on the outcomes of sorafenib-treated advanced Hepatocellular carcinoma (HCC) patients in the setting of a clinical trial. METHODS: This is a secondary analysis of the comparator arm (sorafenib arm) of the NCT00699374 study which is a phase III multicenter study conducted between 2008 and 2010. The univariate probability of overall and progression-free survival was assessed among different patient subsets through Kaplan-Meier analysis and log-rank testing...
February 17, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29455319/development-and-pilot-testing-of-a-decision-aid-for-genomic-research-participants-notified-of-clinically-actionable-research-findings-for-cancer-risk
#14
Amanda M Willis, Sian K Smith, Bettina Meiser, Mandy L Ballinger, David M Thomas, Martin Tattersall, Mary-Anne Young
Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research findings have difficulty making informed decisions regarding uptake of genetic counseling for these findings. This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling...
February 17, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29454577/morphological-clues-to-the-appropriate-recognition-of-hereditary-renal-neoplasms
#15
REVIEW
Holger Moch, Riuko Ohashi, Jatin S Gandhi, Mahul B Amin
An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma...
February 14, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29454559/update-on-hereditary-colorectal-cancer-improving-the-clinical-utility-of-multigene-panel-testing
#16
REVIEW
Marie Lorans, Eryn Dow, Finlay A Macrae, Ingrid M Winship, Daniel D Buchanan
Colorectal cancer (CRC), one of the most common cancers, is a major public health issue globally, especially in Westernized countries. Up to 35% of CRCs are thought to be due to heritable factors, but currently only 5% to 10% of CRCs are attributable to high-risk mutations in known CRC susceptibility genes, predominantly the mismatch repair genes (Lynch syndrome) and adenomatous polyposis coli gene (APC; familial adenomatous polyposis). In this era of precision medicine, high-risk mutation carriers, when identified, can be offered various risk management options that prevent cancers and improve survival, including risk-reducing medication, screening for early detection, and surgery...
January 11, 2018: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29454513/outcomes-and-related-factors-in-a-cohort-of-infants-born-in-taiwan-over-a-period-of-five-years-2007-2011-with-borderline-viability
#17
Jui-Hsing Chang, Chyong-Hsin Hsu, Kao-Inn Tsou, Wai-Tim Jim
BACKGROUND: Advances in perinatal and neonatal care have increased the survival of extremely preterm infants, but the viability limit is still debated. Here we assess the survival, neonatal morbidity, and neurodevelopmental outcomes at 2 years of age of infants born at 22-26 weeks of gestation in Taiwan between 2007 and 2011. METHODS: This is a prospective longitudinal multicenter cohort study on extremely preterm infants registered in the Taiwan Premature Infant Developmental Collaborative Study Group from 2007 to 2011, including 22 neonatal care centers...
February 14, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29454135/short-term-outcomes-following-posterior-cervical-fusion-among-octogenarians-with-cervical-spondylotic-myelopathy-a-nsqip-database-analysis
#18
Caroline E Vonck, Joseph E Tanenbaum, Thomas T Bomberger, Edward C Benzel, Jason W Savage, Iain H Kalfas, Thomas E Mroz, Michael P Steinmetz
BACKGROUND: Context: Degenerative changes in the cervical spine occur in an age-dependent manner. As the U.S. population continues to age, the incidence of age-dependent, multi-level, degenerative cervical pathologies is expected to increase. Similarly, the average age of patients with cervical spondylotic myelopathy (CSM) will likely trend upward. Posterior cervical fusion (PCF) is often the treatment modality of choice in the management of multi-level cervical spine disease. Although outcomes following anterior cervical fusion for degenerative disease have been studied among older patients (aged 80 years and older), it is unknown if these results extend to octogenarian patients undergoing PCF for the surgical management of CSM...
February 14, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29454134/back-pain-improves-significantly-following-discectomy-for-lumbar-disc-herniation
#19
R Kirk Owens, Leah Y Carreon, Erica F Bisson, Mohamad Bydon, Eric A Potts, Steven D Glassman
BACKGROUND CONTEXT: Although lumbar disc herniation (LDH) classically presents with lower extremity radiculopathy, there are patients who have substantial associated back pain PURPOSE: To determine if patients with lumbar disc herniation (LDH) with substantial back pain improve with decompression alone. STUDY DESIGN: Longitudinal observational cohort PATIENT SAMPLE: Patients enrolled in the Quality and Outcomes Database (QOD) with LDH and a baseline back pain score ≥ 5 of 10 who underwent 1 or 2-level lumbar discectomy only OUTCOME MEASURES: Back and leg pain scores (0-10), Oswestry Disability Index (ODI), and EuroQoL 5D (EQ-5D)...
February 14, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29452685/behavioural-outcomes-of-subthalamic-stimulation-and-medical-therapy-versus-medical-therapy-alone-for-parkinson-s-disease-with-early-motor-complications-earlystim-trial-secondary-analysis-of-an-open-label-randomised-trial
#20
Eugénie Lhommée, Lars Wojtecki, Virginie Czernecki, Karsten Witt, Franziska Maier, Lisa Tonder, Lars Timmermann, Thomas D Hälbig, Fanny Pineau, Franck Durif, Tatiana Witjas, Marcus Pinsker, Maximilian Mehdorn, Friederike Sixel-Döring, Andreas Kupsch, Rejko Krüger, Saskia Elben, Stephan Chabardès, Stéphane Thobois, Christine Brefel-Courbon, Fabienne Ory-Magne, Jean-Marie Regis, David Maltête, Anne Sauvaget, Jörn Rau, Alfons Schnitzler, Michael Schüpbach, Carmen Schade-Brittinger, Gunther Deuschl, Jean-Luc Houeto, Paul Krack
BACKGROUND: Although subthalamic stimulation is a recognised treatment for motor complications in Parkinson's disease, reports on behavioural outcomes are controversial, which represents a major challenge when counselling candidates for subthalamic stimulation. We aimed to assess changes in behaviour in patients with Parkinson's disease receiving combined treatment with subthalamic stimulation and medical therapy over a 2-year follow-up period as compared with the behavioural evolution under medical therapy alone...
March 2018: Lancet Neurology
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