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https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#1
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
September 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28927896/niacin-and-heart-disease-prevention-engraving-its-tombstone-is-a-mistake
#2
REVIEW
Harold Robert Superko, Xue-Qiao Zhao, Howard N Hodis, John R Guyton
Niacin (nicotinic acid) has been used for primary and secondary coronary heart disease prevention for over 40 years. Until recently clinical trials incorporating niacin as part of an intervention strategy consistently demonstrated reduction in clinical events and lesion improvement, including ≥6% absolute mortality reduction. Two large clinical event trials in 2011 (Atherothrombosis Intervention in Metabolic Syndrome With Low HDL/High Triglycerides and Impact on Global Health Outcomes) and 2014 (Heart Protection Study 2-Treatment of HDL to Reduce the Incidence of Vascular Events) concluded that niacin added to statin therapy did not provide clinical event benefit over statin alone...
August 24, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28925589/recurrent-twin-twin-transfusion-syndrome-rttts-and-twin-anemia-polycythemia-sequence-taps-after-fetoscopic-laser-surgery-fls-size-of-the-cannula-does-matter
#3
Roopali Donepudi, Joost Akkermans, Lovepreet Mann, Frans J Klumper, Johanna M Middeldorp, Enrico Lopriore, Kenneth J Moise, Michael Bebbington, Anthony Johnson, Dick Oepkes, Ramesha Papanna
OBJECTIVES: Optimal outcomes after fetoscopic laser surgery (FLS) for twin-twin transfusion (TTTS) depend on the successful completion of ablation of all placental anastomoses. Our objective was to determine the incidence and risk factors for the occurrence of recurrent TTTS (rTTTS) or twin anemia-polycythemia sequence (TAPS) after FLS, and focusing on the impact of different diameters of the cannula. METHODS: A secondary analysis of prospectively collected data of 666 consecutive patients undergoing laser surgery for TTTS from 2 centers was performed...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28916255/impact-of-nonfasting-triglycerides-high-density-lipoprotein-cholesterol-ratio-on-secondary-prevention-in-patients-treated-with-statins
#4
Ichiro Matsumoto, Atsushi Misaki, Mizuki Kurozumi, Tsunetatsu Nanba, Yuichiro Takagi
BACKGROUND: Some studies have demonstrated that low-density lipoprotein cholesterol (LDL-C) lowering therapy is one of the most important strategies to prevent coronary artery disease. Also, serum triglycerides (TG) and high-density lipoprotein cholesterol (HDL-C) are recognized as independent risk factors of cardiovascular diseases. The aim of this study was to investigate whether the nonfasting TG/HDL-C ratio could affect the incidence of cardiovascular events after percutaneous coronary intervention (PCI) even in patients treated with statins...
September 12, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28913704/impact-of-etiology-age-and-gender-on-onset-and-severity-of-hyponatremia-in-patients-with-hypopituitarism-retrospective-analysis-in-a-specialised-endocrine-unit
#5
Dragana Miljic, Mirjana Doknic, Marko Stojanovic, Marina Nikolic-Djurovic, Milan Petakov, Vera Popovic, Sandra Pekic
BACKGROUND: Hyponatremia can unmask hypopituitarism and secondary adrenal insufficiency. This is important, since the need to screen for steroid deficiency, in patients with hyponatremia is often neglected. PATIENTS AND METHODS: In a retrospective study, twenty-five patients (13f/12m, age 58.9 ± 18.6 years) with hyponatremia (119.7 ± 10.5 mmol/L) were identified among 260 in-patients treated for hypopituitarism in our specialized endocrine unit, over the last decade...
September 14, 2017: Endocrine
https://www.readbyqxmd.com/read/28912005/proximal-radial-artery-arteriovenous-fistula-for-hemodialysis-vascular-access
#6
William C Jennings, Alexandros Mallios, Nasir Mushtaq
OBJECTIVE: This study reviewed our experience with proximal radial artery-based arteriovenous fistulas (PRA-AVFs) for hemodialysis vascular access, evaluating characteristics of the patients, functional patency, risk of steal syndrome, survival of the patient, and technical considerations. METHODS: We retrospectively analyzed our database of consecutive patients, identifying those individuals with a PRA-AVF created during a 12-year period. In addition to physical examination, all patients underwent ultrasound vessel mapping by the operating surgeon, identifying the PRA-AVF configuration and outflow target most likely to succeed...
September 11, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28906020/diagnostic-impact-of-anterior-segment-angiography-of-limbal-stem-cell-insufficiency-in-pax6-related-aniridia
#7
Barbara Käsmann-Kellner, Lorenz Latta, Fabian Fries, Arne Viestenz, Berthold Seitz
BACKGROUND: PAX6 is a master gene of ocular development and postnatal ocular equilibrium. Congenital aniridia is the hallmark of PAX6 gene haploinsufficiency (Chr. 11 p. 13), but PAX6-associated aniridia is a profound, progressive pan-ocular developmental disorder often leading to blindness. Limbal stem cell insufficiency and corneal findings in PAX6 syndrome: There is congenital visual impairment with advancing loss of vision mainly due to secondary glaucoma and to corneal blindness caused by limbal stem cell insufficiency (LSCI)...
September 14, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28893753/a-randomised-controlled-trial-comparing-venous-stenting-with-conservative-treatment-in-patients-with-deep-venous-obstruction-research-protocol
#8
Timme Maj van Vuuren, Jorinde H H van Laanen, Maaike de Geus, Patty J Nelemans, Rick de Graaf, Cees H A Wittens
INTRODUCTION: Deep venous obstruction (DVO) has a great impact on quality of life (QoL) comparable to angina pectoris or chronic pulmonary disease. Post-thrombotic scar formation and May-Thurner syndrome (MTS) are the most common causes of DVO. Conventional treatment of DVO focuses on reducing pain or leg swelling by use of (pain) medication and therapeutic elastic stockings. In the past, a venous bypass was offered in severe post-thrombotic cases, but this procedure showed bad clinical and patency outcomes...
September 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28890931/rotigotine-transdermal-patch-and-sleep-in-parkinson-s-disease-where-are-we-now
#9
REVIEW
Miguel Rosa-Grilo, Mubasher A Qamar, Raquel N Taddei, Javier Pagonabarraga, Jaime Kulisevsky, Anna Sauerbier, K Ray Chaudhuri
A wide range of sleep dysfunction complicates Parkinson's disease during its course from prodromal to palliative stage. It is now increasingly acknowledged that sleep disturbances are thus integral to the disease and pose a significant burden impacting on quality of life of patients. Sleep fragmentation, restless legs syndrome, nocturia, and nocturnal pain are regarded as one of the main components of night-time sleep dysfunction with possible secondary impact on cognition and well-being. The role of dopaminergic therapies, particularly using a continuous drug delivery strategy in managing some of these sleep issues, have been reported but the overall concept remains unclear...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28879574/genetic-variants-impacting-metabolic-outcomes-among-people-on-clozapine-a-systematic-review-and-meta-analysis
#10
REVIEW
Rachel J Suetani, Dan Siskind, Heidi Reichhold, Steve Kisely
Clozapine is the gold standard medication for treatment refractory schizophrenia, but unfortunately, its use is also associated with many adverse metabolic side effects. There may be a strong genetic component to the development of these adverse effects. We undertook a systematic review to examine the evidence for genetic variation being associated with secondary metabolic outcomes in patients with schizophrenia on clozapine, under both longitudinal and cross-sectional study designs. We limited studies to those examining patients definitely taking clozapine, unlike prior reviews that have examined metabolic effects of patients taking a range of antipsychotic medications...
September 6, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28877261/myelodysplastic-syndrome-patients-present-more-severe-respiratory-muscle-impairment-and-reduced-forced-vital-capacity-is-disordered-inflammatory-signaling-the-culprit
#11
Bruno Memória Okubo, Anacélia Gomes de Matos, Howard Lopes Ribeiro Junior, Daniela de Paula Borges, Roberta Taiane Germano de Oliveira, Marilena Facundo de Castro, Manoel Ricardo Alves Martins, Romélia Pinheiro Gonçalves, Pedro Felipe Carvalhedo Bruin, Ronald Feitosa Pinheiro, Silvia Maria Meira Magalhães
BACKGROUND/OBJECTIVES: The ageing process is associated with gradual decline in respiratory system performance. Anemia is highly prevalent among older adults and usually associated with adverse outcomes. Myelodysplastic syndromes (MDS) are a heterogeneous group of hematologic malignancies with increasing incidence with age and characterized by anemia and other cytopenias. The main objectives of this study were to evaluate respiratory muscle strength and lung function in elderly patients with anemia, compare data between myelodysplastic syndromes and non-clonal anemias and evaluate the influence of serum IL-8 level and NF-kB activity on deteriorate pulmonary function in this specific population...
2017: PloS One
https://www.readbyqxmd.com/read/28870691/-burnout-in-tunisian-medical-residents-about-149-cases
#12
A Ben Zid, W Homri, I Ben Romdhane, N Bram, R Labbane
BACKGROUND: Burnout is a professional psychological chronic stress-induced syndrome defined by three dimensions: emotional exhaustion, depersonalization, and low personal accomplishment. This syndrome concerns all professions but especially healthcare staff. Numerous studies have attempted to document the impact of work activities on the doctor's mental health. According to the literature, junior doctors are more vulnerable to develop this syndrome. AIMS: Are to determine the prevalence of severe burnout among residents of different specialties: anesthesiology, general surgery, emergency medicine, psychiatry, basic sciences...
September 1, 2017: L'Encéphale
https://www.readbyqxmd.com/read/28866139/impact-of-caloric-intake-in-critically-ill-patients-with-and-without-refeeding-syndrome-a-retrospective-study
#13
Laura E Olthof, W A C Kristine Koekkoek, Coralien van Setten, Johannes C N Kars, Dick van Blokland, Arthur R H van Zanten
BACKGROUND & AIMS: Refeeding syndrome comprises metabolic disturbances that occur after the reintroduction of feeding after prolonged fasting. Standard care consists of correcting fluid and electrolytes imbalances. Energy intake during refeeding syndrome is heavily debated. This study addresses the effect of caloric intake on outcome during the management of refeeding syndrome. METHODS: A retrospective study among critically ill invasive mechanically ventilated patients admitted for >7 days to a medical-surgical ICU...
August 10, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28855148/ivermectin-treatment-in-patients-with-onchocerciasis-associated-epilepsy-protocol-of-a-randomized-clinical-trial
#14
Robert Colebunders, Michel Mandro, Deby Mukendi, Housseini Dolo, Patrick Suykerbuyk, Marieke Van Oijen
BACKGROUND: Many studies have reported an association between epilepsy, nodding syndrome (NS), and onchocerciasis (river blindness). A high prevalence of epilepsy has been noted particularly in onchocerciasis hyperendemic areas where onchocerciasis is not or insufficiently controlled with mass ivermectin distribution. There is evidence that increasing the coverage of ivermectin reduces the incidence of epilepsy, and anecdotal evidence suggests a reduction in seizure frequency in onchocerciasis-associated epilepsy (OAE) patients who receive ivermectin...
August 30, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28853423/daytime-sleepiness-more-than-just-obstructive-sleep-apnea-osa
#15
Luigi Ferini-Strambi, Marco Sforza, Mattia Poletti, Federica Giarrusso, Andrea Galbiati
Excessive Daytime Sleepiness (EDS) is a common condition with a significant impact on quality of life and general health. A mild form of sleepiness can be associated with reduced reactivity and modest distractibility symptoms, but more severe symptomatic forms are characterized by an overwhelming and uncontrollable need to sleep, causing sudden sleep attacks, amnesia and automatic behaviors. The prevalence in the general population is between 10 and 25%. Furthermore, EDS has been considered a core symptom of obstructive sleep apnea (OSA), as well as being the main symptom of primary hypersomnias such as narcolepsy types 1 and 2, and idiopathic hypersomnia...
August 28, 2017: La Medicina del Lavoro
https://www.readbyqxmd.com/read/28846036/differential-relationships-of-anxiety-and-autism-symptoms-on-social-skills-in-young-boys-with-fragile-x-syndrome
#16
Debra L Reisinger, Jane E Roberts
Social skills are critical for academic, social, and psychological success of children with both typical and atypical development. Boys with fragile X syndrome (FXS) are at high risk for social skill impairments, given intellectual impairments and secondary conditions. The present study examines the impact of adaptive behavior, autism symptoms, and anxiety symptoms to social skills at the composite and subdomain level in boys with FXS across age. This cross-sectional study included boys with FXS (3-14 years) contrasted to age-matched typical control boys...
September 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28832572/mediterranean-diet-and-prognosis-of-first-diagnosed-acute-coronary-syndrome-patients-according-to-heart-failure-phenotype-hellenic-heart-failure-study
#17
M Kouvari, C Chrysohoou, P Aggelopoulos, E Tsiamis, K Tsioufis, C Pitsavos, D Tousoulis
BACKGROUND/OBJECTIVES: Nutrition in secondary prevention of Acute Coronary Syndrome (ACS) is inadequately investigated. We sought to evaluate the role of Mediterranean diet in prognosis of first-diagnosed ACS patients, according to heart failure type. SUBJECTS/METHODS: in 2006-2009, 1000 consecutive patients hospitalized at First Cardiology Clinic of Athens with ACS diagnosis were enrolled in the study. In 2016, 10-year follow-up was performed (75% participation rate)...
August 23, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28830362/impact-of-intrathecal-morphine-analgesia-on-the-incidence-of-pulmonary-complications-after-cardiac-surgery-a-single-center-propensity-matched-cohort-study
#18
Christoph Ellenberger, Tornike Sologashvili, Krishnan Bhaskaran, Marc Licker
BACKGROUND: Acute pain and systemic opioids may both negatively impact respiratory function after cardiac surgery. This study analyzes the local practice of using intrathecal morphine analgesia (ITMA) with minimal parenteral opioid administration in cardiac surgery, specifically the impact on postoperative pulmonary complications (PPCs). METHODS: Data from adult patients who underwent elective cardiac surgery between January 2002, and December 2013 in a single center were analyzed...
August 22, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28818099/biosemantics-guided-gene-expression-profiling-of-sj%C3%A3-gren-s-syndrome-a-comparative-analysis-with-systemic-lupus-erythematosus-and-rheumatoid-arthritis
#19
Nirav R Shah, Braxton D Noll, Craig B Stevens, Michael T Brennan, Farah B Mougeot, Jean-Luc C Mougeot
BACKGROUND: Sjögren's syndrome (SS) shares many clinical and pathological similarities with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). These autoimmune diseases mostly affect women. In this study, concept profile analysis (CPA) and gene expression meta-analysis were used to identify genes potentially involved in SS pathogenesis. METHODS: Human genes associated with SS, SLE, and RA were identified using the CPA tool, Anni 2.1. The differential mRNA expression of genes common to SS and SLE (SS-SLE) was determined in female peripheral blood mononuclear cells (PBMCs) using NCBI-GEO2R...
August 17, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28814873/safety-and-efficacy-of-paliperidone-palmitate-1-month-formulation-in-chinese-patients-with-schizophrenia-a-25-week-open-label-multicenter-phase-iv-study
#20
Jingping Zhao, Lehua Li, Jianguo Shi, Yi Li, Xiufeng Xu, Keqing Li, Lili Zhang, Shangli Cai, Yu Feng, Jianmin Zhuo, Weihong Liu, Huafei Lu
RATIONALE: Long-acting injectable (LAI) paliperidone palmitate 1-month formulation (PP1M) has demonstrated acceptable tolerability and favorable clinical outcomes in Western and Asian patients with schizophrenia. Hence, analysis of the outcomes of long-term PP1M treatment specifically in Chinese patients is of interest. OBJECTIVE: The aim of this study is to evaluate the long-term safety and efficacy of PP1M treatment in Chinese patients with schizophrenia. METHODS: In this 25-week, open-label, Phase IV study, patients (18-65 years) diagnosed with schizophrenia and having a baseline Positive and Negative Syndrome Scale (PANSS) total score of 60-120 (inclusive) were enrolled...
2017: Neuropsychiatric Disease and Treatment
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