Literature DB >> 31635814

Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome.

Eirene Alexandrou1, Catalina Cabrera-Salcedo2, Guillaume Labilloy1, Leah Tyzinski1, Teresa A Smolarek3, Melissa Andrew4, Yongbo Huang1, Philippe Backeljauw1, Andrew Dauber5.   

Abstract

Early diagnosis of Turner syndrome enhances care, but in routine practice, even within larger referral centers, diagnosis is delayed. Our study examines the utility of an electronic health record algorithm in identifying patients at high risk for Turner syndrome. Six percent of those identified had missed diagnoses of Turner syndrome.
Copyright © 2019 Elsevier Inc. All rights reserved.

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Year:  2019        PMID： 31635814      PMCID： PMC7245696          DOI： 10.1016/j.jpeds.2019.09.023

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  11 in total

1.  Trends in age at diagnosis of Turner syndrome.

Authors:  G Massa; F Verlinde; J De Schepper; M Thomas; J P Bourguignon; M Craen; F de Zegher; I François; M Du Caju; M Maes; C Heinrichs
Journal:  Arch Dis Child       Date:  2005-03       Impact factor: 3.791

2.  Sex differences in patients referred for evaluation of poor growth.

Authors:  Adda Grimberg; Jessica Katz Kutikov; Andrew J Cucchiara
Journal:  J Pediatr       Date:  2005-02       Impact factor: 4.406

3.  Delayed diagnoses of Turner's syndrome: proposed guidelines for change.

Authors:  L Sävendahl; M L Davenport
Journal:  J Pediatr       Date:  2000-10       Impact factor: 4.406

Review 4.  Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

Authors:  Claus H Gravholt; Niels H Andersen; Gerard S Conway; Olaf M Dekkers; Mitchell E Geffner; Karen O Klein; Angela E Lin; Nelly Mauras; Charmian A Quigley; Karen Rubin; David E Sandberg; Theo C J Sas; Michael Silberbach; Viveca Söderström-Anttila; Kirstine Stochholm; Janielle A van Alfen-van derVelden; Joachim Woelfle; Philippe F Backeljauw
Journal:  Eur J Endocrinol       Date:  2017-09       Impact factor: 6.664

5.  Developing evidence-based guidelines for referral for short stature.

Authors:  F K Grote; P van Dommelen; W Oostdijk; S M P F de Muinck Keizer-Schrama; P H Verkerk; J M Wit; S van Buuren
Journal:  Arch Dis Child       Date:  2007-10-01       Impact factor: 3.791

Review 6.  The effects of on-screen, point of care computer reminders on processes and outcomes of care.

Authors:  Kaveh G Shojania; Alison Jennings; Alain Mayhew; Craig R Ramsay; Martin P Eccles; Jeremy Grimshaw
Journal:  Cochrane Database Syst Rev       Date:  2009-07-08

7.  Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.

Authors:  Carrie Guy; Xianfu Wang; Xianglan Lu; Jin Lu; Shibo Li
Journal:  Mol Cytogenet       Date:  2015-12-30       Impact factor: 2.009

8.  Measured parental height in Turner syndrome-a valuable but underused diagnostic tool.

Authors:  Yasmine Ouarezki; Filiz Mine Cizmecioglu; Chourouk Mansour; Jeremy Huw Jones; Emma Jane Gault; Avril Mason; Malcolm D C Donaldson
Journal:  Eur J Pediatr       Date:  2017-12-18       Impact factor: 3.183

9.  Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study.

Authors:  Louise Apperley; Urmi Das; Renuka Ramakrishnan; Poonam Dharmaraj; Jo Blair; Mohammed Didi; Senthil Senniappan
Journal:  Int J Pediatr Endocrinol       Date:  2018-06-26

10.  1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.

Authors:  Ping Hu; Yan Wang; Lu-Lu Meng; Ling Qin; Ding-Yuan Ma; Long Yi; Zheng-Feng Xu
Journal:  Mol Cytogenet       Date:  2013-08-06       Impact factor: 2.009
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