Literature DB >> 22382521

To test, or not to test: time for a MODY calculator?

P R Njølstad1, A Molven.   

Abstract

To test, or not to test, that is often the question in diabetes genetics. This is why the paper of Shields et al in the current issue of Diabetologia is so warmly welcomed. MODY is the most common form of monogenic diabetes. Nevertheless, the optimal way of identifying MODY families still poses a challenge both for researchers and clinicians. Hattersley's group in Exeter, UK, have developed an easy-to-use MODY prediction model that can help to identify cases appropriate for genetic testing. By answering eight simple questions on the internet ( www.diabetesgenes.org/content/mody-probability-calculator ), the doctor receives a positive predictive value in return: the probability that the patient has MODY. Thus, the classical binary (yes/no) assessment provided by clinical diagnostic criteria has been substituted by a more rational, quantitative estimate. The model appears to discriminate well between MODY and type 1 and type 2 diabetes when diabetes is diagnosed before the age of 35 years. However, the performance of the MODY probability calculator should now be validated in other settings than where it was developed-and, as always, there is room for some improvements and modifications.

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Year:  2012        PMID: 22382521     DOI: 10.1007/s00125-012-2514-4

Source DB:  PubMed          Journal:  Diabetologia        ISSN: 0012-186X            Impact factor:   10.122


  10 in total

1.  No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas.

Authors:  Maggie Shepherd; Ewan R Pearson; Jane Houghton; Gill Salt; Sian Ellard; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2003-11       Impact factor: 19.112

2.  Maturity-onset diabetes of the young (MODY): how many cases are we missing?

Authors:  B M Shields; S Hicks; M H Shepherd; K Colclough; A T Hattersley; S Ellard
Journal:  Diabetologia       Date:  2010-05-25       Impact factor: 10.122

3.  Effect of misreported family history on Mendelian mutation prediction models.

Authors:  Hormuzd A Katki
Journal:  Biometrics       Date:  2006-06       Impact factor: 2.571

Review 4.  The role of pancreatic imaging in monogenic diabetes mellitus.

Authors:  Ingfrid S Haldorsen; Helge Ræder; Mette Vesterhus; Anders Molven; Pål R Njølstad
Journal:  Nat Rev Endocrinol       Date:  2011-11-29       Impact factor: 43.330

Review 5.  Role of molecular genetics in transforming diagnosis of diabetes mellitus.

Authors:  Anders Molven; Pål R Njølstad
Journal:  Expert Rev Mol Diagn       Date:  2011-04       Impact factor: 5.225

6.  A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people.

Authors:  R B Tattersall; S S Fajans
Journal:  Diabetes       Date:  1975-01       Impact factor: 9.461

Review 7.  Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes.

Authors:  Rinki Murphy; Sian Ellard; Andrew T Hattersley
Journal:  Nat Clin Pract Endocrinol Metab       Date:  2008-02-26

8.  A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

Authors:  G Thanabalasingham; N Shah; M Vaxillaire; T Hansen; T Tuomi; D Gašperíková; M Szopa; E Tjora; T J James; P Kokko; F Loiseleur; E Andersson; S Gaget; B Isomaa; N Nowak; H Raeder; J Stanik; P R Njolstad; M T Malecki; I Klimes; L Groop; O Pedersen; P Froguel; M I McCarthy; A L Gloyn; K R Owen
Journal:  Diabetologia       Date:  2011-08-04       Impact factor: 10.122

9.  The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes.

Authors:  B M Shields; T J McDonald; S Ellard; M J Campbell; C Hyde; A T Hattersley
Journal:  Diabetologia       Date:  2012-01-05       Impact factor: 10.122

10.  Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Authors:  E Thirthagiri; S Y Lee; P Kang; D S Lee; G T Toh; S Selamat; S-Y Yoon; N A Mohd Taib; M K Thong; C H Yip; S H Teo
Journal:  Breast Cancer Res       Date:  2008-07-16       Impact factor: 6.466

  10 in total
  6 in total

1.  Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases.

Authors:  Tessel Rigter; Lidewij Henneman; Jacqueline E W Broerse; Maggie Shepherd; Ignacio Blanco; Ulf Kristoffersson; Martina C Cornel
Journal:  J Community Genet       Date:  2014-06-04

2.  Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.

Authors:  G Sampathkumar; P P Valiyaparambil; H Kumar; N Bhavani; V Nair; U Menon; A Menon; N Abraham; A Chapla; N Thomas
Journal:  J Endocrinol Invest       Date:  2021-11-06       Impact factor: 4.256

3.  MODY Probability Ratios in Patients Diagnosed with Type 2 Diabetes Mellitus at a Young Age.

Authors:  Mirac Vural Keskinler; Ayse Naciye Erbakan; Aytekin Oguz
Journal:  Medeni Med J       Date:  2020-12-25

4.  Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.

Authors:  Rumi Katashima; Mari Matsumoto; Yuka Watanabe; Maki Moritani; Ichiro Yokota
Journal:  J Diabetes Res       Date:  2021-10-29       Impact factor: 4.011

Review 5.  Clinical implications of the glucokinase impaired function - GCK MODY today.

Authors:  J Hulín; M Škopková; T Valkovičová; S Mikulajová; M Rosoľanková; P Papcun; D Gašperíková; J Staník
Journal:  Physiol Res       Date:  2020-11-02       Impact factor: 1.881

Review 6.  Genetics and Pathophysiology of Maturity-onset Diabetes of the Young (MODY): A Review of Current Trends.

Authors:  Tajudeen O Yahaya; Shemishere B Ufuoma
Journal:  Oman Med J       Date:  2020-05-28
  6 in total

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