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https://www.readbyqxmd.com/read/29348693/variants-in-members-of-the-cadherin-catenin-complex-cdh1-and-ctnnd1-cause-blepharocheilodontic-syndrome
#1
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex...
January 18, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29320295/rothman-et-al-respond
#2
Emily F Rothman, Susie B Baldwin, Hanni Stoklosa, Makini Chisolm-Straker, Rumi Kato Price, Holly G Atkinson
No abstract text is available yet for this article.
February 2018: American Journal of Public Health
https://www.readbyqxmd.com/read/29320277/rothman-et-al-respond
#3
Emily F Rothman, Hanni Stoklosa, Susie B Baldwin, Makini Chisolm-Straker, Rumi Kato Price, Holly G Atkinson
No abstract text is available yet for this article.
February 2018: American Journal of Public Health
https://www.readbyqxmd.com/read/29318648/childhood-abuse-and-late-life-depression-mediating-effects-of-psychosocial-factors-for-early-and-late-onset-depression
#4
Ilse Wielaard, Mathijs Hoyer, Didi Rhebergen, Max L Stek, Hannie C Comijs
No abstract text is available yet for this article.
January 10, 2018: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/29297114/variation-analysis-of-pum1-gene-in-chinese-women-with-primary-ovarian-insufficiency
#5
Wei Luo, Hanni Ke, Ran Liu, Yingying Qin, Winifred Mak, Jinlong Ma, Shidou Zhao, Zi-Jiang Chen
Accumulating evidence has indicated that the genes involved in meiosis are highly correlated with ovarian function. Pumilio 1 (PUM1) is a RNA-binding protein which is involved in the meiotic process. It has been reported that the Pum1 knockout female mice displayed subfertility due to the decrease in primordial follicle pool. The aim of our study is to investigate whether variants of the PUM1 gene are responsible for primary ovarian insufficiency (POI) in Chinese women. We analyzed coding sequence and untranslated regions of the PUM1 gene in 196 Han Chinese women with non-syndromic POI and 192 controls...
January 3, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29242295/the-use-of-romiplostim-in-treating-chemotherapy-induced-thrombocytopenia-in-patients-with-solid-tumors
#6
Hanny Al-Samkari, Ariela L Marshall, Katayoon Goodarzi, David J Kuter
No abstract text is available yet for this article.
December 14, 2017: Haematologica
https://www.readbyqxmd.com/read/29228882/medical-education-and-human-trafficking-using-simulation
#7
Hanni Stoklosa, Michelle Lyman, Carrie Bohnert, Olivia Mittel
Healthcare providers have the potential to play a crucial role in human trafficking prevention, identification, and intervention. However, trafficked patients are often unidentified due to lack of education and preparation available to healthcare professionals at all levels of training and practice. To increase victim identification in healthcare settings, providers need to be educated about the issue of trafficking and its clinical presentations in an interactive format that maximizes learning and ultimately patient-centered outcomes...
2017: Medical Education Online
https://www.readbyqxmd.com/read/29227034/the-clinical-course-of-late-life-bipolar-disorder-looking-back-and-forward
#8
Annemiek Dols, Nicole Korten, Hannie Comijs, Sigfried Schouws, Moniek van Dijk, Ursula Klumpers, Aartjan Beekman, Ralph Kupka, Max Stek
OBJECTIVES: Little is known about the course of late-life bipolar disorder (LLBD). First, we studied patients with LLBD retrospectively with regard to age at first mood episode, onset polarity, predominant polarity and episode density and its associations with other clinical variables. Next, we examined prospectively the clinical course and its associated factors. METHODS: Data were used from a dynamic cohort (Dutch Older Bipolars [DOBi]) including 101 patients with LLBD (mean age of 68...
December 11, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/29225330/huntingtin-gene-repeat-size-variations-affect-risk-of-lifetime-depression
#9
REVIEW
Sarah L Gardiner, Martine J van Belzen, Merel W Boogaard, Willeke M C van Roon-Mom, Maarten P Rozing, Albert M van Hemert, Johannes H Smit, Aartjan T F Beekman, Gerard van Grootheest, Robert A Schoevers, Richard C Oude Voshaar, Raymund A C Roos, Hannie C Comijs, Brenda W J H Penninx, Roos C van der Mast, N Ahmad Aziz
Huntington disease (HD) is a severe neuropsychiatric disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion in the HTT gene. Although HD is frequently complicated by depression, it is still unknown to what extent common HTT CAG repeat size variations in the normal range could affect depression risk in the general population. Using binary logistic regression, we assessed the association between HTT CAG repeat size and depression risk in two well-characterized Dutch cohorts─the Netherlands Study of Depression and Anxiety and the Netherlands Study of Depression in Older Persons─including 2165 depressed and 1058 non-depressed persons...
December 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/29203990/squamous-cell-and-adenosquamous-carcinoma-of-gall-bladder-a-clinicopathological-study-of-8-cases-isolated-in-94-cancers
#10
Hanni Vasudev Gulwani, Suneeta Gupta, Sukhpreet Kaur
Adenosquamous/squamous cell carcinoma (AS/SCC) of the gall bladder is a rare histopathologic subtype that accounts for 1 to 12% of all the gall bladder carcinomas (GBC). Literature on these malignancies is limited. A retrospective analysis of 8 cases (study group) of pathologically proven AS/SCC of the gallbladder among 94 patients who underwent surgery for GBC from January 2001 to December 2014 was done. Twenty-four conventional gall bladder adenocarcinoma cases were selected as control group after matching for age and gender...
December 2017: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29198199/secular-trends-in-the-prevalence-of-major-and-subthreshold-depression-among-55-64-year-olds-over-20-years
#11
Hans W Jeuring, Hannie C Comijs, Dorly J H Deeg, Max L Stek, Martijn Huisman, Aartjan T F Beekman
BACKGROUND: Studying secular trends in the exposure to risk and protective factors of depression and whether these trends are associated with secular trends in the prevalence of depression is important to estimate future healthcare demands and to identify targets for prevention. METHODS: Three birth cohorts of 55-64-year olds from the population-based Longitudinal Aging Study Amsterdam were examined using identical methods in 1992 (n = 944), 2002 (n = 964) and 2012 (n = 957)...
December 4, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/29197431/measuring-adherence-to-evidence-based-clinical-practice-guidelines
#12
Richard Clark, Utsana Tonmukayakul, Yvonne Mangan, Michael Smith, Mark Gussy, David Manton, Denise Bailey, Hanny Calache
OBJECTIVES: Dental Health Services Victoria publishes evidence-based clinical practice guidelines (CPGs) to assist public oral health practitioners to provide high-quality dental care. How well these CPGs are implemented into practice is unknown. The aim of this study was to assess adherence to selected CPGs. METHODS: An electronic auditing tool was developed using clinical indicators derived for "stainless steel crown (SSC)," "restorative care for children under general anesthetic (GA)," and "direct restorative materials" CPG...
December 2017: Journal of Evidence-based Dental Practice
https://www.readbyqxmd.com/read/29178768/a-global-approach-to-assess-the-economic-benefits-of-increased-consumption-of-sugar-free-chewing-gum
#13
Reinhard Rychlik, Fabian Kreimendahl, Cornelia Blaich, Hanny Calache, Franklin Garcia-Godoy, Elizabeth Kay, Yan Si, David Zilberman, Stefan Zimmer
PURPOSE: To analyze the influence of increasing the average consumption of sugar-free gum (SFG) in 25 industrialized countries on dental expenditures due to caries by the national health care systems. It was assumed that large cost savings were possible, because the regular consumption of SFG significantly reduces the relative risk of caries and therefore, improves dental health, which reduces expenditures on dental treatments. METHODS: A budget impact analysis (BIA) was performed to model the decrease in the relative risk of caries and the subsequent cost savings for dental care...
April 2017: American Journal of Dentistry
https://www.readbyqxmd.com/read/29146648/economic-evaluation-of-an-e-mental-health-intervention-for-patients-with-retinal-exudative-diseases-who-receive-intraocular-anti-vegf-injections-e-pseye-protocol-for-a-randomised-controlled-trial
#14
Hilde P A van der Aa, Ger H M B van Rens, Frank D Verbraak, Machteld Bosscha, Marc A Koopmanschap, Hannie C Comijs, Pim Cuijpers, Ruth M A van Nispen
INTRODUCTION: Because of the great potential of vascular endothelial growth factor inhibitors (anti-VEGF) for retinal exudative diseases, an increased number of patients receives this treatment. However, during this treatment, patients are subjected to frequent invasive intravitreal injections, and the effects on reversing the process of vision loss are uncertain, which may have negative consequences for patients' mental health. One in three patients experience at least mild symptoms of depression/anxiety...
November 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/29134829/book-review-from-ultrasound-to-army-the-unconscious-trajectories-of-masculinity-in-israel-from-ultrasound-to-army-the-unconscious-trajectories-of-masculinity-in-israel-by-mann-shalvi-hanni-translated-by-zohar-seree-london-karnac-books-2016-xiv-290-pp-47-95
#15
https://www.readbyqxmd.com/read/29125926/anticoagulation-and-enzalutamide-caution-over-convenience
#16
Hanny Al-Samkari, Jean M Connors
No abstract text is available yet for this article.
November 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/29117996/effect-of-isolated-ultrafiltration-and-isovolemic-dialysis-on-myocardial-perfusion-and-left-ventricular-function-assessed-with-13n-nh3-pet-and-echocardiography
#17
Solmaz Assa, Hannie Kuipers, Esmee Ettema, Carlo A Gaillard, Wim P Krijnen, Yoran M Hummel, Adriaan A Voors, Joost P van Melle, Ralf Westerhuis, Antoon Willemsen, Riemer H J A Slart, Casper Fm Franssen
Hemodialysis is associated with a fall in myocardial perfusion and may induce regional left ventricular (LV) systolic dysfunction. The pathophysiology of this entity is incompletely understood and the contribution of ultrafiltration and diffusive dialysis has not been studied. We investigated the effect of isolated ultrafiltration and isovolemic dialysis on myocardial perfusion and LV function. Eight patients (7 male, age 55±18 years) underwent 60 min of isolated ultrafiltration and 60 min of isovolemic dialysis in randomized order...
November 8, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29112531/core-metrics-pilot-project-a-case-study
#18
Suzanne Ryan-Ibarra, Dana Pearlman, Sue Grinnell, Krista Hanni, Genoveva Islas, Steven Teutsch
No abstract text is available yet for this article.
November 6, 2017: Journal of Public Health Management and Practice: JPHMP
https://www.readbyqxmd.com/read/29110741/effect-of-fibre-additions-to-flatbread-flour-mixes-on-glucose-kinetics-a-randomised-controlled-trial
#19
Hanny M Boers, Theo H van Dijk, Harry Hiemstra, Anne-Roos Hoogenraad, David J Mela, Harry P F Peters, Roel J Vonk, Marion G Priebe
We previously found that guar gum (GG) and chickpea flour (CPF) added to flatbread wheat flour lowered postprandial blood glucose (PPG) and insulin responses dose dependently. However, rates of glucose influx cannot be determined from PPG, which integrates rates of influx, tissue disposal and hepatic glucose production. The objective was to quantify rates of glucose influx and related fluxes as contributors to changes in PPG with GG and CPF additions to wheat-based flatbreads. In a randomised cross-over design, twelve healthy males consumed each of three different 13C-enriched meals: control flatbreads (C), or C incorporating 15 % CPF with either 2 % (GG2) or 4 % (GG4) GG...
November 7, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/29099981/feasibility-of-using-ecological-momentary-assessment-to-study-unaided-smoking-cessation-in-couples
#20
Jaye L Derrick, Rebecca K Eliseo-Arras, Sana Haddad, Maggie Britton, Courtney Hanny
Introduction: Ecological momentary assessment (EMA) is a valuable method for studying smoking cessation, but feasibility has not been examined in committed couples. The current study examines the feasibility of conducting an EMA study of unaided smoking cessation in single-smoker couples. Methods: Participants were 62 single-smoker couples recruited to participate in a 21-day study of unaided smoking cessation. Quitters and Partners were given instructions to complete one morning report, three signaled reports, and one evening report per day, as well as lapse reports when necessary...
November 1, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
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