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Jacob W P Potuijt, Martijn Baas, Rivka Sukenik-Halevy, Hannie Douben, Picard Nguyen, Deon J Venter, Renée Gallagher, Sigrid M Swagemakers, Steven E R Hovius, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Peter J van der Spek, Nadav Ahituv, Annelies de Klein
PurposeThe zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Nicole C M Korten, Brenda W J H Penninx, Didi Rhebergen, Dorly J H Deeg, Hannie C Comijs
Inconsistent results are found in the involvement of the Hypothalamus-Pituitary-Adrenal (HPA)-axis in cognitive functioning. This study examined the association between various saliva cortisol measures (the 1-h awakening cortisol, evening cortisol, diurnal change, and cortisol suppression) and cognitive functioning (episodic memory, processing speed, interference control, and working memory). Participants were older adults, between 60 and 93 years with (N = 328) and without (N = 119) a depressive disorder from the Netherlands Study of Depression in Older adults...
December 29, 2017: Psychoneuroendocrinology
Hans W Jeuring, Hannie C Comijs, Dorly J H Deeg, Emiel O Hoogendijk, Aartjan T F Beekman, Max L Stek, Martijn Huisman
BACKGROUND: Late-life depression is associated with premature mortality, however, little is known whether excess mortality rates of depression have changed over time. This study aims to identify and explain secular trends in excess mortality of major depressive disorder (MDD) and subthreshold depression (SUBD). METHODS: Cohort-sequential-longitudinal study of 4084 community-dwelling older adults in the Netherlands based on data from the Longitudinal Aging Study Amsterdam (LASA)...
February 27, 2018: Journal of Affective Disorders
I Ketut Agus Somia, Nipat Teeratakulpisarn, Wifanto S Jeo, Ilias A Yee, Tippawan Pankam, Siriporn Nonenoy, Deondara Trachuntong, Pravit Mingkwanrungrueng, Made Dewi D Sukmawati, Reshmie Ramautarsing, Hanny Nilasari, Nany Hairunisa, Iskandar Azwa, Evy Yunihastuti, Tuti P Merati, Praphan Phanuphak, Joel Palefsky, Nittaya Phanuphak
This study aimed to assess the prevalence of and associated risk factors for anal high-risk human papillomavirus (hr-HPV) infection among men who have sex with men (MSM) and transgender women (TGW) in Indonesia, Thailand, and Malaysia.This was baseline data from a prospective cohort study with clinic sites in Jakarta and Bali (Indonesia), Bangkok (Thailand), and Kuala Lumpur (Malaysia).MSM and TGW aged 18 years and older from Indonesia, Thailand, and Malaysia were enrolled. Demographic and behavioral characteristics were assessed, and anal samples were collected for HPV genotyping...
March 2018: Medicine (Baltimore)
Yochai Schonmann, Oz Bleich, Andre Matalon, Hanny Yeshua
Aims The aim of this study was to evaluate the performance of the US Preventive Services Task Force (USPSTF) cholesterol recommendations in a contemporary non-US cohort. Methods and results This is a historical cohort analysis of electronic records from Israel's largest health provider. All patients in the Tel Aviv district eligible for primary cardiovascular prevention were followed between January 2005 and December 2015. Risk was estimated by the pooled cohort equations. Statin eligibility was determined by USPSTF and American College of Cardiology and American Heart Association (ACC/AHA) recommendations...
January 1, 2018: European Journal of Preventive Cardiology
Hanni Stoklosa, Meredith Scannell, Zheng Ma, Bernard Rosner, Ashley Hughes, J Stephen Bohan
OBJECTIVES: Our aim was to determine whether emergency physicians (EPs) felt their standard patient evaluation practice was modified by two non-private clinical encounters: hallway encounters and encounters during which a companion was present. METHODS: We administered an iteratively developed cross-sectional survey at an annual national professional meeting. We used logistic regression to compare relationships among non-private clinical encounters and predictors of interest...
February 3, 2018: Emergency Medicine Journal: EMJ
Marieke Jantien Henstra, Thomas Christiaan Feenstra, Nathalie van der Velde, Roos C van der Mast, Hannie Comijs, Max L Stek, Didi Rhebergen
Background: In older people, both apathy and depression (which frequently co-occurs with apathy) have been associated with poor physical functioning, a major health concern. We investigated the association between apathy and physical functioning in older people without dementia and whether this association is modified by depression. Methods: We used the data from 380 older participants (with and without depression) taking part in the Netherlands Study of Depression in Older Persons, with baseline scores on the Apathy Scale and baseline and 2-year follow-up scores on at least one measure of physical functioning...
February 3, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
Hanni Kiiski, Lee Jollans, Seán Ó Donnchadha, Hugh Nolan, Róisín Lonergan, Siobhán Kelly, Marie Claire O'Brien, Katie Kinsella, Jessica Bramham, Teresa Burke, Michael Hutchinson, Niall Tubridy, Richard B Reilly, Robert Whelan
Event-related potentials (ERPs) show promise to be objective indicators of cognitive functioning. The aim of the study was to examine if ERPs recorded during an oddball task would predict cognitive functioning and information processing speed in Multiple Sclerosis (MS) patients and controls at the individual level. Seventy-eight participants (35 MS patients, 43 healthy age-matched controls) completed visual and auditory 2- and 3-stimulus oddball tasks with 128-channel EEG, and a neuropsychological battery, at baseline (month 0) and at Months 13 and 26...
January 29, 2018: Brain Topography
Joyce T Yuan, Daniel J Aires, Matthew DaCunha, Kristen Funk, Arlette Habashi-Daniel, Sarah A Moore, Anna Heimes, Hanny Sawaf, Garth R Fraga
Promotion in academic dermatology requires evidence of scholastic production. The h-index is a bibliometric measure that combines both volume and impact of scientific contributions. Its calculation better predicts future scientific success than do publication or citation counts. In this epidemiologic survey of associate and full professors of dermatology in residency training programs in the United States, we measured mean and median h-indices among associate and full professors as well as regional differences in h-index...
December 2017: Cutis; Cutaneous Medicine for the Practitioner
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
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
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
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
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
Hanny Al-Samkari, Ariela L Marshall, Katayoon Goodarzi, David J Kuter
No abstract text is available yet for this article.
December 14, 2017: Haematologica
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
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
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
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
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
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