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https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#1
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29792142/collaboration-of-the-joint-research-centre-and-the-european-customs-laboratories-for-identification-of-new-psychoactive-substances
#2
Claude Guillou, Fabiano Reniero, Joana Lobo Pereira Vicente, Margaret Holland, Kamil Kolar, Hubert Chassaigne, Salvatore Tirendi, Herve Schepers
The emergence of designer drugs as substances of abuse has seen a dramatic increase over the last few years. Customs officials are responsible for the control of products entering the European Union (EU) market. This control applies to chemicals in general, pharmaceutical products and medicines. Numerous products imported from non-EU countries, often -declared as 'bath salts' or 'fertilizers', may in fact contain new psychoactive substance (NPS). These are not necessarily controlled under international law, but are subject to monitoring in agreement with EU legislation...
May 23, 2018: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/29792133/impact-of-collaborative-shared-medical-appointments-on-diabetes-outcomes-in-a-family-medicine-clinic
#3
Melody L Hartzler, McKenzie Shenk, Julie Williams, James Schoen, Thomas Dunn, Douglas Anderson
Purpose The purpose of this study is to evaluate the impact of a collaborative diabetes shared medical appointment on patient outcomes in an urban family medicine practice. Methods Fifty-nine patients were enrolled to participate in multiple shared medical appointments (SMAs) over 12 months. Baseline data included hemoglobin (A1C), lipids, systolic blood pressure (SBP), weight, adherence to American Diabetes Association (ADA) guidelines, and surveys, including the Problem Areas in Diabetes (PAID-2) scale and the Spoken Knowledge in Low Literacy in Diabetes Scale (SKILLD)...
May 1, 2018: Diabetes Educator
https://www.readbyqxmd.com/read/29791466/understanding-health-advocacy-in-family-medicine-and-psychiatry-curricula-and-practice-a-qualitative-study
#4
Sophie Soklaridis, Carrie Bernard, Genevieve Ferguson, Lisa Andermann, Mark Fefergrad, Kenneth Fung, Karl Iglar, Andrew Johnson, Morag Paton, Cynthia Whitehead
BACKGROUND: We explored understanding and experiences of health advocacy among psychiatry and family medicine residents and faculty and the implications for clinical care and teaching through the lens of relationship-centred care. METHODS: This qualitative study was conducted in the psychiatry and family medicine departments at a large urban university. We interviewed 19 faculty members and conducted two focus groups with 18 residents. Semi-structured questions explored the relational meaning of health advocacy, how residents and faculty learned about the role and ethical considerations involved in incorporating advocacy work into clinical practice within a relationship-centred care framework...
2018: PloS One
https://www.readbyqxmd.com/read/29790923/missed-opportunities-to-prescribe-preexposure-prophylaxis-in-south-carolina-2013-2016
#5
Dawn K Smith, Man-Huei Chang, Wayne A Duffus, Stella Okoye, Sharon Weissman
Introduction: Expanding use of preexposure prophylaxis (PrEP) in ways that address current racial/ethnic disparities is an important HIV prevention goal. We investigated missed opportunities to provide PrEP during healthcare visits occurring prior to HIV infection. Methods: This retrospective cohort study linked South Carolina HIV case surveillance data to 3 statewide healthcare databases. Characteristics of patients, health care visits and providers, sexually transmitted diseases (STD), and other diagnoses, were assessed for medical encounters occurring before an initial HIV diagnosis...
May 22, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29790874/point-of-care-whole-exome-sequencing-of-idiopathic-male-infertility
#6
Khalid A Fakhro, Haitham Elbardisi, Mohamed Arafa, Amal Robay, Juan L Rodriguez-Flores, Alya Al-Shakaki, Najeeb Syed, Jason G Mezey, Charbel Abi Khalil, Joel A Malek, Abdulla Al-Ansari, Sami Al Said, Ronald G Crystal
PurposeNonobstructive azoospermia (NOA) affects 1% of the male population; however, despite state-of-the-art clinical assessment, for most patients the cause is unknown. We capitalized on an analysis of multiplex families in the Middle East to identify highly penetrant genetic causes.MethodsWe used whole-exome sequencing (WES) in 8 consanguineous families and combined newly discovered genes with previously reported ones to create a NOA gene panel, which was used to identify additional variants in 75 unrelated idiopathic NOA subjects and 74 fertile controls...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29790873/diversity-of-genetic-events-associated-with-mlh1-promoter-methylation-in-lynch-syndrome-families-with-heritable-constitutional-epimutation
#7
Julie Leclerc, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Emilie Ait Yahya, Stéphanie Baert-Desurmont, Nelly Burnichon, Myriam Bronner, Odile Cabaret, Sophie Lejeune, Rosine Guimbaud, Gilles Morin, Jacques Mauillon, Philippe Jonveaux, Pierre Laurent-Puig, Thierry Frébourg, Nicole Porchet, Marie-Pierre Buisine
PurposeConstitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1 epimutations have been reported so far.MethodsWe designed a long-range polymerase chain reaction next-generation sequencing strategy to screen MLH1 entire gene and applied it to 4 French families with heritable epimutations and 10 additional patients with no proven transmission of their epimutations...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29790872/genomic-sequencing-identifies-secondary-findings-in-a-cohort-of-parent-study-participants
#8
Michelle L Thompson, Candice R Finnila, Kevin M Bowling, Kyle B Brothers, Matthew B Neu, Michelle D Amaral, Susan M Hiatt, Kelly M East, David E Gray, James M J Lawlor, Whitley V Kelley, Edward J Lose, Carla A Rich, Shirley Simmons, Shawn E Levy, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
PurposeClinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.MethodsExome/genome sequencing and analysis of 789 "unaffected" parents was performed.ResultsPathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7)...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29790871/phenotypic-expansion-illuminates-multilocus-pathogenic-variation
#9
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir, Sevcan Bozdogan, Gozde Yesil, Sedat Isikay, Donna Muzny, Richard A Gibbs, James R Lupski
PurposeMultilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a "known" disease gene.MethodsAnalyses focused on 106 patients, 19 for whom apparent phenotypic expansion was previously attributed to variation at known disease genes. We performed a retrospective computational reanalysis of whole-exome sequencing data using stringent Variant Call File filtering criteria to determine whether molecular diagnoses involving additional disease loci might explain the observed expanded phenotypes...
April 26, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29790754/epiprofile-2-0-a-computational-platform-for-processing-epi-proteomics-mass-spectrometry-data
#10
Zuo-Fei Yuan, Simone Sidoli, Dylan M Marchione, Johayra Simithy, Kevin A Janssen, Mary R Szurgot, Benjamin A Garcia
Epigenetics has become a fundamental scientific discipline with various implications for biology and medicine. Epigenetic marks, mostly DNA methylation and histone post-translational modifications (PTMs), play important roles in chromatin structure and function. Accurate quantification of these marks is an ongoing challenge due to the variety of modifications and their wide dynamic range of abundance. Here, we present EpiProfile 2.0, an extended version of our 2015 software (v1.0) for accurate quantification of histone peptides based on liquid chromatography - tandem mass spectrometry (LC-MS/MS) analysis...
May 23, 2018: Journal of Proteome Research
https://www.readbyqxmd.com/read/29790101/medical-student-exposure-to-integrated-behavioral-health
#11
Rebekah J Choi, Renée M Betancourt, Mario P DeMarco, Kent D W Bream
OBJECTIVE: Integrated behavioral health (IBH) allows for effective care delivery for patients with mental health and behavioral health disorders in primary care settings. This study assesses the state of exposure current medical students have to the IBH model in family medicine clerkships, in order to augment the readiness of students to participate in IBH as developing professionals. METHODS: Clerkship directors at US and Canadian medical schools with a required family medicine run course (n = 141) were asked to estimate the percentage of students exposed to IBH in their clerkships, as part of the Council of Academic Family Medicine Educational Research Alliance (CERA) 2016 survey...
May 22, 2018: Academic Psychiatry
https://www.readbyqxmd.com/read/29789925/associations-of-polymorphisms-of-cyp2d6-and-cyp2c9-with-early-onset-severe-pre-eclampsia-and-response-to-labetalol-therapy
#12
Cheng-Juan Sun, Lin Li, Xue-Yan Li, Wei-Yuan Zhang, Xiao-Wei Liu
PURPOSE: Early onset preeclampsia (PPE) contributes to life-threatening maternal complications and fetal demise. Pharmacogenomics is a precision medicine, and metabolizing enzymes responsive to antihypertensive remains understudied. The aim of this study was to evaluate the associations of polymorphisms of cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6) and cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9) with PPE and the relationship among CYP2D6, CYP2C9 polymorphisms and response to labetalol therapy...
May 22, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29789558/celastrol-alleviates-renal-fibrosis-by-upregulating-cannabinoid-receptor-2-expression
#13
Ming Tang, Xu Cao, Kun Zhang, You Li, Quan-You Zheng, Gui-Qing Li, Qian-Hui He, Shu-Jing Li, Gui-Lian Xu, Ke-Qin Zhang
Renal fibrosis is the final manifestation of various chronic kidney diseases, and no effective therapy is available to prevent or reverse it. Celastrol, a triterpene that derived from traditional Chinese medicine, is a known potent anti-fibrotic agent. However, the underlying mechanisms of action of celastrol on renal fibrosis remain unknown. In this study, we found that celastrol treatment remarkably attenuated unilateral ureteral obstruction (UUO)-induced mouse renal fibrosis. This was evidenced by the significant reduction in tubular injury; collagen deposition; accumulation of fibronectin, collagen I, and α-smooth muscle actin; and the expression levels of pro-fibrotic factors Vim, Cola1, and TGF-β1 mRNA, as well as inflammatory responses...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29788243/social-support-and-the-intimate-partner-violence-victimization-among-adults-from-six-european-countries
#14
Nicole Geovana Dias, Diogo Costa, Joaquim Soares, Eleni Hatzidimitriadou, Elisabeth Ioannidi-Kapolou, Jutta Lindert, Örjan Sundin, Olga Toth, Henrique Barros, Silvia Fraga
Background: Social support may buffer the negative effects of violence on physical and mental health. Family medicine providers play an essential role in identifying the available social support and intervening in intimate partner violence (IPV). Objective: This study aimed at assessing the association between social support and the IPV victimization among adults from six European countries. Methods: This is a cross-sectional multi-centre study that included individuals from Athens (Greece), Budapest (Hungary), London (UK), Östersund (Sweden), Porto (Portugal) and Stuttgart (Germany)...
May 21, 2018: Family Practice
https://www.readbyqxmd.com/read/29788242/challenges-for-family-medicine-research-a-global-perspective
#15
Amanda Howe, Michael Kidd
No abstract text is available yet for this article.
May 19, 2018: Family Practice
https://www.readbyqxmd.com/read/29787239/catalytic-bases-and-stereo-control-in-lamiaceae-class-ii-diterpene-cyclases
#16
Samuel Schulte, Kevin Potter, Cody Lemke, Reuben J Peters
Plants from the widespread Lamiaceae family produce many labdane-related diterpenoids, a number of which serve medicinal roles, and whose biosynthesis is initiated by class II diterpene cyclases (DTCs). These enzymes utilize a general acid-base catalyzed cyclo-isomerization reaction to produce various stereoisomers of the eponymous labdaenyl carbocation intermediate, which can then undergo rearrangement and/or the addition of water prior to terminating deprotonation. Identification of the pair of residues that cooperatively serve as the catalytic base in the DTCs that produce ent-copalyl diphosphate (CPP) required for gibberellin phytohormone biosynthesis in all vascular plants has led to insight into the addition of water as well as rearrangement...
May 22, 2018: Biochemistry
https://www.readbyqxmd.com/read/29786947/does-general-experience-affect-self-assessment
#17
Parisa Rezaiefar, Kelly Forse, Joseph K Burns, Sharon Johnston, Elizabeth Muggah, Claire Kendall, Douglas Archibald
BACKGROUND: The assessment of clinical competence is critical in medical education. Understanding the effect of general experience on a physician's self-assessment would help design more effective curricula and evaluations of procedural skills in postgraduate training and continuing professional development (CPD). In this observational study, we assessed the effect of general experience on the correlation between confidence and competence amongst experienced clinicians (ECs) and postgraduate trainees (PGTs) when learning an office-based procedure in pessary care...
May 22, 2018: Clinical Teacher
https://www.readbyqxmd.com/read/29786592/obstetric-and-gynecological-care-by-family-doctors-in-ukraine-literature-review
#18
Oksana V Bakun, Svitlana Y Karatieieva, Svitlana B Semenenko, Oksana I Yurkiv, Ksenia V Slobodian
OBJECTIVE: Introduction: The analysis of literature on the questions of obstetrical and gynecologic care by general practitioners - family doctors in Ukraine has been presented in the article. Special attention has been paid to the actual problems of primary health care implementation on the basis of family medicine. The aim of the study is to find out the depth of the problem "A female doctor as an obstetrician-gynecologist" by analyzing scientific relevant literature data...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786581/development-of-informational-communicative-system-created-to-improve-medical-help-for-family-medicine-doctors
#19
Vladyslav A Smiianov, Natalia O Dryha, Olha I Smiianova, Victor K Obodyak, Tatyana O Zudina
OBJECTIVE: Introduction: Today mobile health`s protection service has no concrete meaning. As an research object it was called mHealth and named by Global observatory of electronic health`s protection as "Doctor and social health practice that can be supported by any mobile units (mobile phones or smartphones), units for patient`s health control, personal computers and other units of non-wired communication". An active usage of SMS in programs for patients` cure regimen keeping was quiet predictable...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29786509/-targeted-screening-for-pre-eclampsia-in-the-first-trimester-of-pregnancy-at-toulouse-university-hospital
#20
A Genoux, P Guerby, M Morin, B Perret, C Vayssière, S M Hamdi
GOALS: Preeclampsia (PE) is a leading cause of maternal and neonatal morbidity and mortality. Early treatment by aspirin has been shown to significantly reduce PE risk before 37weeks supporting the implementation of first-trimester screening. SUBJECTS AND METHODS: A targeted screening was recently implemented at Toulouse University Hospital for women in their first pregnancy or those with personal or familial history of PE. It uses Fetal Medicine Foundation (FMF) algorithm that combines maternal characteristics, clinical, biophysical and biochemical (PAPP-A, Pregnancy Associated Plasma Protein-A, and PlGF, Placental Growth Factor) data...
May 18, 2018: Annales de Cardiologie et D'angéiologie
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