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Monogenic Diabetes (monogenic + diabetes)

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Medical Sciences	100%

Selected Abstracts

Monogenic diabetes: information seeking and genetic testing access via e-mail

EUROPEAN DIABETES NURSING, Issue 2 2010
M Shepherd RGN, PhD Honorary Clinical Senior Lecturer
Abstract Background: Confirmation of monogenic diabetes by molecular genetic testing has allowed many patients, often previously assumed to have type 1 diabetes, to transfer from insulin injections to sulphonylurea tablets, with improvements in glycaemic control and quality of life: www.diabetesgenes.org provides information about monogenic diabetes and genetic testing. Aim: To investigate key issues raised by individuals who e-mailed the monogenic diabetes team about genetic testing and monogenic diabetes management. Methods: Sixty e-mail enquiries, received over a six-month period from patients and professionals worldwide, were analysed using a qualitative thematic content approach. Results: Five themes emerged: 1. Accessing genetic technology: patients and professionals both enquired about access to testing; 2. Presentation of evidence: medical facts presented by patients and professionals included characteristics specifically relevant to diagnosing monogenic diabetes; 3. Experiences of healthcare: patients often researched their condition online and some felt dissatisfied with routine consultations; 4. Seeking specialist advice regarding treatment: specific information was sought relating to management of neonatal diabetes or monogenic diabetes and pregnancy; 5. Searching for a cure through genetic technology: patients questioned whether genetic advances would lead to a cure for diabetes. Conclusion: This project offers the first insights into use of e-mail as a means of gaining access to a specialist monogenic team and information about genetic testing. Although providing advice via e-mail can prove complicated, particularly when received from patients under the care of other clinicians, it is an efficient means of communicating specialist knowledge. Study findings will aid development of a ,frequently asked questions' section of www.diabetesgenes.org. Copyright © 2010 FEND [source]

Diagnosing monogenic diabetes: common misinterpretations of genetic findings

PEDIATRIC DIABETES, Issue 8 2009
Oscar Rubio-Cabezas
No abstract is available for this article. [source]

Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene

AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009
Jennifer J. CONN
Recent research has demonstrated that mutations of the hepatocyte nuclear factor 4-alpha (HNF4A) gene are associated with neonatal hyperinsulinaemic hypoglycaemia. Mutations of this gene also cause one of the subtypes of monogenic diabetes, a form of diabetes formerly known as maturity-onset diabetes of the young. This article describes a family discovered to have a novel frame-shift mutation of the HNF4A gene in the setting of early-onset maternal diabetes and severe neonatal hyperinsulinaemic hypoglycaemia. The implications of a diagnosis of HNF4A gene mutation for obstetric and paediatric practice are discussed. [source]