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https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#1
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28812990/human-leukocyte-antigen-c-12-02-02-and-killer-immunoglobulin-like-receptor-2dl5-are-distinctly-associated-with-ankylosing-spondylitis-in-the-taiwanese
#2
Chin-Man Wang, Sheng-Hung Wang, Yeong-Jian Jan Wu, Jing-Chi Lin, Jianming Wu, Ji-Yih Chen
Human leukocyte antigen (HLA) class I ligands and Killer immunoglobulin-like receptors (KIRs) regulate the cytolytic activity of natural killer (NK) cells and certain T cells. We examined their genetic predisposition to disease susceptibility and clinical phenotypes in Taiwanese ankylosing spondylitis (AS) patients. KIR genotyping and Human Leucocyte Antigen C (HLA-C) sequencing were performed in 653 Taiwanese AS patients and 952 healthy controls. KIR genotype distributions and HLA-C allele frequencies were compared in patients and controls and among patients with and without HLA-B27 positivity, early age onset and spinal syndesmophytes...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28812959/periocular-manifestations-of-trigeminal-trophic-syndrome-a-case-series-and-literature-review
#3
Katherine A McVeigh, Morag Adams, Richard Harrad, Rebecca Ford
Trigeminal trophic syndrome (TTS) is a condition whereby persistent facial ulceration presents consequent to central or peripheral insult to the trigeminal nerve. Lesions are created by repetitive self-inflicted manipulation and trauma of dysaesthetic skin within the trigeminal dermatome. We discuss four cases with aetiologies varied from presumed microvascular compromise to resection of cerebral meningioma, cerebrovascular accident, and herpes zoster ophthalmicus. We discuss the management of the under-recognised associated periocular skin ulcerations that result from physical manipulation of dysesthic skin and prove to be persistent and challenging to treat...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28812930/increasing-colorectal-cancer-screening-at-an-urban-fqhc-using-ifobt-and-patient-navigation
#4
Richard L Martin, Madelaine Tully, Allison Kos, David Frazer, Amy Williamson, Amy Conlon, James J Enser, Noelle K LoConte
INTRODUCTION: Colorectal cancer is the second leading cause of cancer death in the United States. Black Americans suffer even higher incidence and death rates than the general population. Genetics and patient perceptions explain some of this difference, however, modifiable health care system factors such as lack of access to colon cancer screening also contribute. Partnering an academic health center with local community groups, we piloted a colorectal cancer screening program at a Federally Qualified Health Center (FQHC) serving predominately low socioeconomic status Black Americans...
September 2017: Health Promotion Practice
https://www.readbyqxmd.com/read/28812385/increased-acetaminophen-related-calls-to-finnish-pic-better-reflect-acetaminophen-sales-than-serious-poisonings
#5
Mikko J Parry, Helena Isoniemi, Anna-Maria Koivusalo, Kalle Hoppu
OBJECTIVE: Acetaminophen (APAP) or paracetamol is a commonly encountered medicine in poisonings. We studied the changes in APAP related calls to the Finnish poison information centre (FPIC), and serious intoxications, involving hepatotoxicity or death in 2001-2014. These data were compared with paracetamol sales in Finland. METHODS: This is a retrospective analysis of the FPIC database calls, national cause of death registry, registries of liver transplantations and molecular adsorbent recycling system (MARS)-treated patients from Helsinki University Hospital together with the National Institute of Health and Welfare registry of patients hospitalized...
August 16, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28812383/evaluation-of-relationship-between-coronary-artery-status-evaluated-by-coronary-computed-tomography-angiography-and-development-of-cardiomyopathy-in-carbon-monoxide-poisoned-patients-with-myocardial-injury-a-prospective-observational-study
#6
Yong Sung Cha, Hyun Kim, Yoonsuk Lee, Woocheol Kwon, Jung-Woo Son, Hyun Youk, Hyung Il Kim, Oh Hyun Kim, Kyung Hye Park, Kyoung-Chul Cha, Kang Hyun Lee, Sung Oh Hwang
OBJECTIVES: Whether coronary artery changes are a main mechanism in the development of carbon monoxide (CO)-induced cardiomyopathy remains unknown. We investigated the effects of coronary artery stenosis on the presence or patterns of cardiomyopathy in CO-poisoned patients with myocardial injury defined as elevation of troponin I. MATERIALS AND METHODS: This prospective observational study collected data from consecutive patients who were diagnosed with CO poisoning and myocardial injury during the 24-month study period...
August 16, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28812368/how-psychiatrists-recommend-treatment-and-its-relationship-with-patient-uptake
#7
Laura Thompson, Rose McCabe
Consultations for patients with chronic mental health conditions are conceived as meetings of experts: medical and experiential, respectively. Treatment decisions, in these terms, become a joint responsibility rather than handed down ex-cathedra. One resource for constituting decisions as 'shared' is the treatment recommendation - decisional authority can be invoked through its design. There is concern that people diagnosed with schizophrenia are infrequently involved in treatment decisions. However, the methods psychiatrists actually employ remain undefined...
August 16, 2017: Health Communication
https://www.readbyqxmd.com/read/28812230/simulation-of-left-ventricular-dynamics-using-a-low-order-mathematical-model
#8
Michael J Moulton, Brian D Hong, Timothy W Secomb
The eventual goal of this study is to develop methods for estimating dynamic stresses in the left ventricle (LV) that could be used on-line in clinical settings, based on routinely available measurements. Toward this goal, a low-order theoretical model is presented, in which LV shape is represented using a small number of parameters, allowing rapid computational simulations of LV dynamics. The LV is represented as a thick-walled prolate spheroid containing helical muscle fibers with nonlinear passive and time-dependent active contractile properties...
August 15, 2017: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/28812022/histopathologic-differences-between-jewish-and-arab-population-in-israel-at-first-time-presentation-with-bladder-cancer
#9
Ofir Avitan, Zaher Bahouth, Sarel Halachmi, Sagi Shprits, Ismail Masarwa, Edmond Sabo, Boaz Moskovitz, Ofer Nativ
BACKGROUND: Pathology of urothelial carcinoma may vary in different populations at diagnosis. Our aim was to evaluate the histopathologic differences between Jewish and Arab patients in Israel at first diagnosis of urothelial cancer. PATIENTS AND METHODS: We retrospectively collected data of all patients with confirmed urothelial cancer, treated at our department between January 2010 and January 2015. We examined the distribution of the histopathologic data among the studied populations...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28811995/agreement-between-gamma-passing-rates-using-computed-tomography-in-radiotherapy-and-secondary-cancer-risk-prediction-from-more-advanced-dose-calculated-models
#10
Abdulhamid Chaikh, Jacques Balosso
BACKGROUND: During the past decades, in radiotherapy, the dose distributions were calculated using density correction methods with pencil beam as type 'a' algorithm. The objectives of this study are to assess and evaluate the impact of dose distribution shift on the predicted secondary cancer risk (SCR), using modern advanced dose calculation algorithms, point kernel, as type 'b', which consider change in lateral electrons transport. METHODS: Clinical examples of pediatric cranio-spinal irradiation patients were evaluated...
June 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/28811926/postinjection-delirium-sedation-syndrome-in-patients-with-schizophrenia-receiving-olanzapine-long-acting-injection-results-from-a-large-observational-study
#11
Kristin J Meyers, Himanshu P Upadhyaya, John L Landry, Rashna Chhabra-Khanna, Deborah M Falk, Balasubramanya Seetharama Rao, Meghan E Jones
BACKGROUND: Postinjection delirium/sedation syndrome (PDSS) has been reported uncommonly during treatment with olanzapine long-acting injection (LAI), a sustained-release formulation of olanzapine. AIMS: The primary aim of the study was to estimate the incidence per injection and per patient of PDSS events in adult patients with schizophrenia who were receiving olanzapine LAI in real-world clinical practice. Secondary aims were to further characterise the clinical presentation of PDSS events, to identify potential risk factors associated with PDSS events and to characterise hospitalisations at baseline and post-baseline...
July 2017: BJPsych Open
https://www.readbyqxmd.com/read/28811835/mental-health-care-providers-perceptions-of-the-barriers-to-suicide-prevention-amongst-people-with-substance-use-disorders-in-south-africa-a-qualitative-study
#12
Daniel Goldstone, Jason Bantjes
BACKGROUND: Substance use is a well-established, and potentially modifiable, risk factor for suicide. Suicide prevention interventions are typically framed within the biomedical paradigm and focus on addressing individual risk factors, improving access to psychiatric care, and improving the skills of medical personnel to recognise at-risk individuals. Few studies have focused on contextual factors that hinder suicide prevention in people with substance use disorders, particularly in low-resource settings...
2017: International Journal of Mental Health Systems
https://www.readbyqxmd.com/read/28811797/ct-findings-and-features-of-postoperative-abdominal-infection-patients-with-pancreatic-carcinoma
#13
Yuzhuo Ma, Guangsheng Liu, Lingling Zhang
OBJECTIVE: To investigate the values of Computed Tomography (CT) in diagnosing postoperative pancreatic surgeryabdominalinfection and its efficacy and to provide a reasonable method for the diagnosis of abdominal infection. METHODS: Seventy-two patients who were confirmed as resectablepancreatic carcinoma by physical examination, CT, positron emission tomography (PET)/CT, endoscopic retrograde cholangiopancreatography (ER-CP), endoscopic ultrasonography and mesenteric angiography and were admitted to the Binzhou People's Hospital, Shandong, China, from July 2013 to July 2015 were randomly selected...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811746/oral-care-and-prevention-of-pneumonia-in-hospitalized-patients-with-psychiatric-disorders-in-japan
#14
Atsushi Hamuro, Hideki Kawaguchi, Kazuaki Yamazoe, Minoru Honda, Ryuichi Tanaka
PURPOSE: Oral care in hospitalized patients with psychiatric disorders is important. However, some patients with psychiatric disorders cannot undergo oral care because of psychiatric symptoms and cognitive decline. The effect of a standardized oral hygiene intervention on the prevention of pneumonia in hospitalized patients with psychiatric disorders was investigated. METHOD: Patients were divided into 2 groups: control group (N = 259), patients without standardized intervention who were enrolled on April 2014 as the time point of baseline, and intervention group (N = 263), patients with standardized intervention who were enrolled on April 2015 as the time point of baseline...
2017: Japanese Clinical Medicine
https://www.readbyqxmd.com/read/28811685/mutation-analyses-in-selected-exons-of-the-mut-gene-in-indian-patients-with-methylmalonic-acidemia
#15
Chandrawati Kumari, Seema Kapoor, Bijo Varughese, Sunil Kumar Pollipali, Siddarth Ramji
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28811393/analysis-of-geographical-variations-in-the-epidemiology-and-management-of-non-valvular-atrial-fibrillation-results-from-the-ramses-registry
#16
Volkan Doğan, Özcan Başaran, Murat Biteker, Fatma Özpamuk Karadeniz, Ahmet İlker Tekkesin, Yasin Çakıllı, Ceyhan Türkkan, Mehmet Hamidi, Vahit Demir, Mustafa Ozan Gürsoy, Müjgan Tek Öztürk, Gökhan Aksan, Sabri Seyis, Mehmet Ballı, Mehmet Hayri Alıcı, Serdar Bozyel, Cevat Kırma
OBJECTIVE: This study aimed to determine the differences in terms of demographic characteristics and preferred stroke prevention strategies for patients with non-valvular atrial fibrillation living in seven geographical regions of Turkey. METHODS: In total, 6273 patients were enrolled to this prospective, observational RAMSES study. The patients were divided into seven groups based on the geographical region of residence. RESULTS: In terms of the geographical distribution of the overall Turkish population, the highest number of patients were enrolled from Marmara (1677, 26...
August 11, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28811257/auditory-conflict-and-congruence-in-frontotemporal-dementia
#17
Camilla N Clark, Jennifer M Nicholas, Jennifer L Agustus, Christopher J D Hardy, Lucy L Russell, Emilie V Brotherhood, Katrina M Dick, Charles R Marshall, Catherine J Mummery, Jonathan D Rohrer, Jason D Warren
Impaired analysis of signal conflict and congruence may contribute to diverse socio-emotional symptoms in frontotemporal dementias, however the underlying mechanisms have not been defined. Here we addressed this issue in patients with behavioural variant frontotemporal dementia (bvFTD; n=19) and semantic dementia (SD; n=10) relative to healthy older individuals (n=20). We created auditory scenes in which semantic and emotional congruity of constituent sounds were independently probed; associated tasks controlled for auditory perceptual similarity, scene parsing and semantic competence...
August 12, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28811150/best-practice-recommendations-for-the-retention-of-radiotherapy-records
#18
E Lockhart, K Bak, L J Schreiner, D C Hodgson, E Gutierrez, P Warde, M B Sharpe
This paper offers best practice recommendations for the maintenance and retention of radiotherapy health records and technical information for cancer programmes. The recommendations are based on a review of the published and grey literature, feedback from key informants from seven countries and expert consensus. Ideally, complete health records should be retained for 5 years beyond the patient's lifetime, regardless of where they are created and maintained. Technical information constituting the radiotherapy plan should also be retained beyond the patient's lifetime for 5 years, including the primary images, contours of delineated targets and critical organs, dose distributions and other radiotherapy plan objects...
August 12, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/28811131/assessment-of-translational-risk-in-drug-research-role-of-biomarker-classification-and-mechanism-based-pkpd-concepts
#19
Sandra A G Visser, Tjerk J H Bueters
In 2005, Danhof and coauthors proposed a new biomarker classification in the context of the application of mechanism-based PKPD modeling. They defined the term 'biomarker' as a measure that characterizes a drug-induced response, which is on the causal path between drug administration and clinical outcome. The biomarker classification identified seven categories that provide different insights into the kinetics of drug action, such as target site distribution, target engagement, or into the impact of the drug on physiology or disease...
August 12, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28811123/emergency-department-involvement-in-accountable-care-organizations-in-massachusetts-a-survey-study
#20
Nissa J Ali, J Michael McWilliams, Stephen K Epstein, Peter B Smulowitz
STUDY OBJECTIVE: We assess Massachusetts emergency department (ED) involvement and internal ED constructs within accountable care organization contracts. METHODS: An online survey was distributed to 70 Massachusetts ED directors. Questions attempted to assess involvement of EDs in accountable care organizations and the structures in place in EDs-from departmental resources to physician incentives-to help achieve accountable care organization goals of decreasing spending and improving quality...
August 12, 2017: Annals of Emergency Medicine
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