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View article: Parent-Adolescent Communication, Self-Efficacy, and Self-Management of Type 1 Diabetes in Adolescents
Parent-Adolescent Communication, Self-Efficacy, and Self-Management of Type 1 Diabetes in Adolescents Open
Purpose The purpose of this study was to investigate adolescent perspectives of parent-adolescent communication, type 1 diabetes mellitus (T1DM)-specific family conflict, self-efficacy, and their relationship to adolescent self-management …
View article: Congenital Hyperinsulinism and Novel <i>KDM6A</i> Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses
Congenital Hyperinsulinism and Novel <i>KDM6A</i> Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open
Context Hyperinsulinemic hypoglycemia (HI) can be the presenting feature of Kabuki syndrome (KS), which is caused by loss-of-function variants in KMT2D or KDM6A. As these genes play a critical role in maintaining methylation status in chro…
View article: Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements Open
View article: A realist synthesis of multicentre comparative audit implementation: exploring what works and in which healthcare contexts
A realist synthesis of multicentre comparative audit implementation: exploring what works and in which healthcare contexts Open
Background Multicentre comparative clinical audits have the potential to improve patient care, allow benchmarking and inform resource allocation. However, implementing effective and sustainable large-scale audit can be difficult within bus…
View article: Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of<i>FOXA2</i>
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of<i>FOXA2</i> Open
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the know…
View article: Relationship between parent–adolescent communication and parent involvement in adolescent Type 1 diabetes management, parent/family wellbeing and glycaemic control
Relationship between parent–adolescent communication and parent involvement in adolescent Type 1 diabetes management, parent/family wellbeing and glycaemic control Open
Objectives This study investigated the relationship between parent-reported degree of openness and extent of problems in parent–adolescent communication and parent involvement in adolescent Type 1 diabetes management, parent and family wel…
View article: Parents’ perspectives of factors affecting parent–adolescent communication about type 1 diabetes and negotiation of self-management responsibilities
Parents’ perspectives of factors affecting parent–adolescent communication about type 1 diabetes and negotiation of self-management responsibilities Open
Adolescence is an important time in which young people take on type 1 diabetes (T1D) self-management responsibility. Parents are key facilitators of this process. Little is known about parents’ experiences of communicating with their child…
View article: Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group Open
Down syndrome is more common in patients with hyperinsulinism than in the population. This is likely due to an increased burden of non-genetic risk factors resulting from the Down syndrome phenotype. Down syndrome should not preclude genet…
View article: Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience Open
Mucolipidosis type II (ML II) is an autosomal recessive lysosomal targeting disorder that may present with features of hyperparathyroidism. The aim of this study was to describe in detail the clinical cases of ML II presenting to a tertiar…
View article: 134: ImprovemenT of Clinical Research TriAl Co-Enrollment (TRACE)
134: ImprovemenT of Clinical Research TriAl Co-Enrollment (TRACE) Open
View article: The presentation of congenital adrenal hyperplasia in an unscreened population
The presentation of congenital adrenal hyperplasia in an unscreened population Open
Background The aim of this study was to describe the incidence and spectrum of early clinical presentations of congenital adrenal hyperplasia (CAH) in an unscreened population. Methods A national retrospective observational study was under…
View article: Exploring temporal behaviour of app users completing ecological momentary assessments using mental health scales and mood logs
Exploring temporal behaviour of app users completing ecological momentary assessments using mental health scales and mood logs Open
Smartphone-based digital phenotyping can provide insight into mood, cognition and behaviour. In this study, data analytics was carried out with data generated from a maternal mental health app to address the following question: what is the…
View article: Children and young people’s experiences and perceptions of self-management of type 1 diabetes: A qualitative meta-synthesis
Children and young people’s experiences and perceptions of self-management of type 1 diabetes: A qualitative meta-synthesis Open
The aim of this review was to conduct a meta-synthesis of the experiences and perceptions of self-management of type 1 diabetes of children and young people living with type 1 diabetes (CYPDs). Six databases were systematically searched fo…
View article: P284 A case of familial cranial diabetes insipidus – it’s all in the history
P284 A case of familial cranial diabetes insipidus – it’s all in the history Open
Aims Cranial diabetes insipidus is characterised by polyuria and polydipsia secondary to partial or complete deficiency of antidiuretic hormone. Although in most patients non-hereditary causes underlie the disorder, rarer genetic defects i…
View article: GP141 Possible aggravation of desmoid tumours with primary ovarian failure treatment
GP141 Possible aggravation of desmoid tumours with primary ovarian failure treatment Open
Introduction Chromosomal abnormalities are a common cause of primary ovarian failure in adolescents. Familial adenomatous polyposis (FAP) is an autosomal dominant predisposition to developing colonic polyposis arising from a germline mutat…
View article: OC43 Impact of flash and continuous glucose monitoring on quality of life and disease burden in children with diabetes mellitus and their families
OC43 Impact of flash and continuous glucose monitoring on quality of life and disease burden in children with diabetes mellitus and their families Open
Introduction/Background Flash and continuous glucose monitoring technology has revolutionised the management of diabetes, particularly in paediatric populations. Recent government funding for flash glucose monitoring devices has enabled wi…
View article: P287 Transient neonatal hyperinsulinaemic hypoglycaemia secondary to a hnf1a gene mutation
P287 Transient neonatal hyperinsulinaemic hypoglycaemia secondary to a hnf1a gene mutation Open
Introduction Monoallelic pathogenic variants in HNF1A are a well-established cause of maturity-onset diabetes of the young 3 (MODY3). These variants are rarely reported as a cause of neonatal hyperinsulinaemic hypoglycaemia (NHH). Case Des…
View article: P236 Parents’ experiences of having a child diagnosed with type 1 diabetes: initial impact and change over time
P236 Parents’ experiences of having a child diagnosed with type 1 diabetes: initial impact and change over time Open
Aims Treatment of type 1 diabetes in adolescence requires input from parents to support the completion of complex multi-component self-management tasks in order to achieve optimal glycaemic control and maintain adolescent health and well-b…
View article: P265 The reliability of point of care ketone measurement in the paediatric hypoglycaemia setting
P265 The reliability of point of care ketone measurement in the paediatric hypoglycaemia setting Open
Introduction Point of care capillary ketone (beta-hydroxybutyrate) measurement is often used in the management of paediatric dysglycaemia. The accuracy of point of care ketone (POCK) measurement has not been evaluated in the setting of pae…
View article: P292 Neonatal diabetes in a tertiary centre; genetics dictating management
P292 Neonatal diabetes in a tertiary centre; genetics dictating management Open
Background Neonatal diabetes mellitus is a rare condition with one case per 300,000 to 500,000 live births. It presents with marked hyperglycaemia in the first six months of life and is commonly of generic origin. Approximately half of cas…
View article: P590 Investigating the relationship between parent diabetes-related distress and family communication in parents of adolescents living with type 1 diabetes
P590 Investigating the relationship between parent diabetes-related distress and family communication in parents of adolescents living with type 1 diabetes Open
Aims Parents of adolescents living with type 1 diabetes often struggle with sharing self-management responsibility with their children as roles change throughout adolescence. Existing evidence suggests that parents' own emotions may impact…
View article: Letter to the Editor: “Alemtuzumab-Induced Thyroid Dysfunction Exhibits Distinctive Clinical and Immunological Features”
Letter to the Editor: “Alemtuzumab-Induced Thyroid Dysfunction Exhibits Distinctive Clinical and Immunological Features” Open
View article: DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency Open
View article: Outcomes of using flash glucose monitoring technology by children and young people with type 1 diabetes in a single arm study
Outcomes of using flash glucose monitoring technology by children and young people with type 1 diabetes in a single arm study Open
Children with diabetes improved glycemic control safely and effectively with short-term flash glucose monitoring compared to use of SMBG in a single arm study.
View article: A Self-management App for Maternal Mental Health
A Self-management App for Maternal Mental Health Open
Femtech (female technology) describes digital technologies focusing on women’s health, which is gaining enormous growing global attention and investment. One such women’s health area is maternal mental health, which is an increasing proble…
View article: Vitamin D status in Irish infants
Vitamin D status in Irish infants Open
Vitamin D is essential for good bone health particularly during infancy, a time of rapid growth.Given Irelands northerly latitude, Irish children are at risk of suboptimal vitamin D levels.The aim of our study was to describe the vitamin D…
View article: Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time Open
In K-ATP CHI patients managed by medical treatment only, severity is reduced over time in the majority, including those with compound heterozygous and homozygous mutations in ABCC8/KCNJ11. Severity and treatment requirement should be asses…
View article: Exaggerated cortisol response in heterozygous carriers with a mutation in the melanocortin-2 receptor (MC2R) gene
Exaggerated cortisol response in heterozygous carriers with a mutation in the melanocortin-2 receptor (MC2R) gene Open
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)