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https://www.readbyqxmd.com/read/29777677/usherin-defects-lead-to-early-onset-retinal-dysfunction-in-zebrafish
#1
Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2armc1 : c...
May 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29767837/romiplostim-for-the-management-of-perioperative-thrombocytopenia
#2
Hanny Al-Samkari, Ariela L Marshall, Katayoon Goodarzi, David J Kuter
Thrombocytopenic patients requiring invasive surgery have few options to improve their platelet count preoperatively. This is a single-centre, retrospective review of thrombocytopenic patients receiving the thrombopoietin receptor agonist romiplostim perioperatively to allow for surgical interventions. Patient characteristics, romiplostim use, and surgical and safety outcomes (bleeding, thrombosis, transfusions) were collected and analysed. Forty-seven patients underwent 51 surgical procedures (ranging from total hip arthroplasty to open cardiac surgery) with romiplostim support...
May 16, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#3
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29754270/heterozygous-missense-variants-of-lmx1a-lead-to-nonsyndromic-hearing-impairment-and-vestibular-dysfunction
#4
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A Huynen, Hanka Venselaar, Andy J Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans, Michelle M van Rossum, Bas P Hartel, Stefan H Lelieveld, Laurens Wiel, Berit Verbist, Liselotte J Rotteveel, Marieke F van Dooren, Peter Lichtner, Henricus P M Kunst, Ilse Feenstra, Ronald J C Admiraal, Helger G Yntema, Lies H Hoefsloot, Ronald J E Pennings, Hannie Kremer
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein-protein interactions...
May 12, 2018: Human Genetics
https://www.readbyqxmd.com/read/29704868/inter-laboratory-comparison-of-channelized-hotelling-observer-computation
#5
Alexandre Ba, Craig Abbey, Jongduk Baek, Minah Han, Ramona W Bouwman, Christiana Balta, Jovan Brankov, Francesc Massanes, Howard C Gifford, Irene Hernandez-Giron, Wouter J H Veldkamp, Dimitar Petrov, Nicholas Marshall, Frank W Samuelson, Rongping Zeng, Justin B Solomon, Ehsan Samei, Pontus Timberg, Hannie Förnvik, Ingrid Reiser, Lifeng Yu, Hao Gong, François O Bochud
PURPOSE: The task-based assessment of image quality using model observers is increasingly used for the assessment of different imaging modalities. However, the performance computation of model observers needs standardization as well as a well-established trust in its implementation methodology and uncertainty estimation. The purpose of this work was to determine the degree of equivalence of the channelized Hotelling observer performance and uncertainty estimation using an intercomparison exercise...
April 28, 2018: Medical Physics
https://www.readbyqxmd.com/read/29691948/lifestyle-factors-and-the-course-of-depression-in-older-adults-a-nesdo-study
#6
REVIEW
Myrthe C Bruin, Hannie C Comijs, Rob M Kok, Roos C Van der Mast, Julia F Van den Berg
OBJECTIVES: To investigate whether lifestyle indicators including physical exercise, sleep duration, alcohol use, body mass index, smoking status, and a composite lifestyle index are associated with the depression course in older adults. METHODS: Data of 283 older adults were used from the Netherlands Study of Depression in Older Persons. Depressive disorders at baseline were assessed with the Composite International Diagnostic Interview. The depression course at 2-year follow-up was assessed with the Inventory of Depressive Symptoms (IDS, score 0-84) every 6 months; physical exercise with the International Physical Activity Questionnaire; alcohol use with the Alcohol Use Disorders Identification Test; body mass index by anthropometry; and sleep duration and smoking status by interview questions...
April 24, 2018: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/29685071/comparative-analysis-of-natalizumab-versus-fingolimod-as-second-line-treatment-in-relapsing-remitting-multiple-sclerosis
#7
Johannes Lorscheider, Pascal Benkert, Carmen Lienert, Peter Hänni, Tobias Derfuss, Jens Kuhle, Ludwig Kappos, Özgür Yaldizli
BACKGROUND: No randomized controlled trials have compared the efficacy of fingolimod or natalizumab as second-line treatment in patients with relapsing-remitting multiple sclerosis (RRMS). OBJECTIVE: To compare clinical outcomes after escalation to fingolimod versus natalizumab in patients with clinically active RRMS. METHODS: Using the registry of the Swiss Federation for Common Tasks of Health Insurances, we identified patients with RRMS and ≥1 relapse in the year before switching from interferon beta or glatiramer acetate to fingolimod or natalizumab...
April 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29669101/time-trend-in-persistent-cognitive-decline-results-from-the-longitudinal-aging-study-amsterdam
#8
Tessa N van den Kommer, Dorly J H Deeg, Wiesje M van der Flier, Hannie C Comijs
Objective: To study time trends in the incidence of persistent cognitive decline (PCD), and whether an increase or decrease is explained by changes in well-known risk factors of dementia. Method: Data from the Longitudinal Aging Study Amsterdam over a period of 20 years were used. Subsamples of 65-88 year-olds were selected at 7 waves, with numbers ranging from 1,800 to 1,165. Within-person change in cognitive functioning was used to determine PCD. In logistic generalized estimating equations (GEE), time (0, 3, 6, 9, 13, and 16 years) was the main predictor of 3-year PCD incidence...
April 16, 2018: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/29665704/low-dose-ct-of-postoperative-pelvic-fractures-a-comparison-with-radiography
#9
Thomas Eriksson, Per Berg, Claes Olerud, Adel Shalabi, Mari Hänni
Background Computed tomography (CT) is superior to conventional radiography (CR) for assessing internal fixation of pelvic fractures, but with a higher radiation exposure. Low-dose CT (LDCT) could possibly have a sufficient diagnostic accuracy but with a lower radiation dose. Purpose To compare postoperative diagnostic accuracy of LDCT and CR after open reduction and internal fixation of pelvic fracture. Material and Methods Twenty-one patients were examined with LDCT and CR 0-9 days after surgery. The examinations were reviewed by two musculoskeletal radiologists...
January 1, 2018: Acta Radiologica
https://www.readbyqxmd.com/read/29665519/associations-between-cognitive-functioning-mood-symptoms-and-coping-styles-in-older-age-bipolar-disorder
#10
Nadine P G Paans, Annemiek Dols, Hannie C Comijs, Max L Stek, Sigfried N T M Schouws
BACKGROUND: Older age patients with bipolar disorder (OABD) have often passive coping styles, generally considered as detrimental for functioning. The aim of the current study is to identify the contribution of cognitive functioning, subjective cognitive complaints and mood symptoms to passive and active coping styles in older age BD. METHODS: In 90 euthymic patients (age > 60) with BD I or II, we examined coping, neuropsychological profile including memory, attention, executive function and fluency, subjective cognitive complaints and mood symptoms...
April 6, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29650178/the-effective-needle-stick-injury-prevention-strategies-for-nursing-students-in-the-clinical-settings-a-literature-review
#11
Hanny Handiyani, L Meily Kurniawidjaja, Dewi Irawaty, Rita Damayanti
OBJECTIVE: Nursing students are prone to needle stick injuries (NSIs) during their practice in the hospitals. This study aimed to identify the effective NSI prevention strategies for nursing students in the clinical settings. METHOD: Literature review was performed using the databases of ScienceDirect, ProQuest, MEDLINE, PsycINFO, Scopus, CINAHL, SpringerLink, JSTOR, and PubMed. The search terms of "nursing students", "NSI incidents", "prevention", and "clinical settings" were entered, generating 103 articles published between 1991 and 2015...
February 2018: Enfermería Clínica
https://www.readbyqxmd.com/read/29650175/factors-that-affect-the-development-of-nurses-competencies-a-systematic-review
#12
Ichsan Rizany, Rr Tutik Sri Hariyati, Hanny Handayani
OBJECTIVE: To investigate factors affecting the development of nursing competency based on a review of the literature. METHOD: A systematic review was utilized. The articles were taken from the databases of Pro-Quest, ScienceDirect, SpringerLink, and Scopus. They were retrieved using the following keywords: nursing competence, nurse competencies and clinical competence. Twenty-one papers were selected. RESULTS: Competence development is a continuous process of improving knowledge, attitudes and skills, and is influenced by a myriad of factors...
February 2018: Enfermería Clínica
https://www.readbyqxmd.com/read/29628322/vitamin-d-status-and-depressive-symptoms-in-older-adults-a-role-for-physical-functioning
#13
Elisa J de Koning, Liset E M Elstgeest, Hannie C Comijs, Paul Lips, Judith J M Rijnhart, Harm W J van Marwijk, Aartjan T F Beekman, Marjolein Visser, Brenda W J H Penninx, Natasja M van Schoor
OBJECTIVES: Depressive symptoms and low vitamin D status are common in older persons and may be associated, but findings are inconsistent. This study investigated whether 25-hydroxyvitamin D (25(OH)D) concentrations are associated with depressive symptoms in older adults, both cross-sectionally and longitudinally. We also examined whether physical functioning could explain this relationship, to gain a better understanding of the underlying mechanisms. METHODS: Data from two independent prospective cohorts of the Longitudinal Aging Study Amsterdam were used: an older cohort (≥65 years, n = 1282, assessed from 1995-2002) and a younger-old cohort (55-65 years, n = 737, assessed from 2002-2009)...
March 12, 2018: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/29608748/increases-in-neuroticism-may-be-an-early-indicator-of-dementia-a-coordinated-analysis
#14
Tomiko Yoneda, Jonathan Rush, Eileen K Graham, Anne Ingeborg Berg, Hannie Comijs, Mindy Katz, Richard B Lipton, Boo Johansson, Daniel K Mroczek, Andrea M Piccinin
Objectives: Although personality change is typically considered a symptom of dementia, some studies suggest that personality change may be an early indication of dementia. One prospective study found increases in neuroticism preceding dementia diagnosis (Yoneda et al, 2017). The current study extends this research by examining trajectories of personality traits in additional longitudinal studies of aging. Method: Three independent series of latent growth curve models were fitted to data from the Longitudinal Aging Study Amsterdam (LASA) and Einstein Aging Study (EAS) to estimate trajectories of personality traits in individuals with incident dementia diagnosis (Total N = 210), in individuals with incident Mild Cognitive Impairment (N = 135), and in individuals who did not receive a diagnosis during follow-up periods (Total N = 1740)...
March 28, 2018: Journals of Gerontology. Series B, Psychological Sciences and Social Sciences
https://www.readbyqxmd.com/read/29564686/ofatumumab-for-acute-treatment-and-prophylaxis-of-a-patient-with-multiple-relapses-of-acquired-thrombotic-thrombocytopenic-purpura
#15
Hanny Al-Samkari, Rachael F Grace, Jean M Connors
Acquired thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder resulting in potentially life-threating systemic thrombotic microangiopathy due to production of antibodies directed against the von Willebrand factor-cleaving protease ADAMTS13. Typically managed with plasma exchange, glucocorticoids, and the first-generation anti-CD20 monoclonal antibody rituximab, patients with multiple relapses or refractory disease present unique management challenges. We describe a case of a young woman with multiple relapses of TTP despite standard therapy who was treated with ofatumumab, a second-generation anti-CD20 monoclonal antibody, after developing a severe hypersensitivity reaction to rituximab precluding its use...
March 21, 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29543231/a-point-mutation-in-the-pre-zrs-disrupts-sonic-hedgehog-expression-in-the-limb-bud-and-results-in-triphalangeal-thumb-polysyndactyly-syndrome
#16
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
https://www.readbyqxmd.com/read/29525585/hypothalamus-pituitary-adrenal-axis-activity-and-cognitive-functioning-in-older-adults
#17
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...
May 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29522940/secular-trends-in-excess-mortality-of-late-life-depression
#18
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)...
July 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29517698/prevalence-of-and-risk-factors-for-anal-high-risk-hpv-among-hiv-negative-and-hiv-positive-msm-and-transgender-women-in-three-countries-at-south-east-asia
#19
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)
https://www.readbyqxmd.com/read/29517367/validation-of-the-2016-uspstf-recommendations-for-primary-cardiovascular-prevention-in-a-large-contemporary-cohort
#20
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...
May 2018: European Journal of Preventive Cardiology
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