Caroline Joyce
YOU?
Author Swipe
View article: Use of the Abbott i‐ <scp>STAT</scp> ®1 point of care device for <scp>hCG</scp> quantification in early pregnancy
Use of the Abbott i‐ <span>STAT</span> ®1 point of care device for <span>hCG</span> quantification in early pregnancy Open
Objectives To evaluate the use of the Abbott i‐STAT®1 point‐of‐care‐test (POCT) device for measurement of human chorionic gonadotropin (hCG) to support the management of early pregnancy complications in a remote early pregnancy unit (EPU).…
View article: Proof-of-concept study: Remote capillary blood collection for hCG analysis in early pregnancy
Proof-of-concept study: Remote capillary blood collection for hCG analysis in early pregnancy Open
The study enrolled 71 participants and over a third of these women collected a capillary blood sample at home. The median age of participants was 33 years (range 29-36). Passing-Bablok linear regression (y = -0.037 + 1.04x) and Spearman co…
View article: Novel scoring system provides high separation of diploidy and triploidy to aid partial hydatidiform mole diagnosis: an adaption of <i>HER2</i> D-DISH for ploidy analysis
Novel scoring system provides high separation of diploidy and triploidy to aid partial hydatidiform mole diagnosis: an adaption of <i>HER2</i> D-DISH for ploidy analysis Open
Aims Diagnosis of hydatidiform mole or molar pregnancy based on morphology alone can be challenging, particularly in early gestation, necessitating the use of ancillary techniques for accurate diagnosis. We sought to adapt the VENTANA HER2…
View article: Appraisal of hydatidiform mole incidence and registration rates in Ireland following the establishment of a National Gestational Trophoblastic Disease Registry
Appraisal of hydatidiform mole incidence and registration rates in Ireland following the establishment of a National Gestational Trophoblastic Disease Registry Open
Aims This study aimed to re-evaluate the incidence of hydatidiform mole (HM) and determine gestational trophoblastic disease (GTD) registration rates in Ireland following the establishment of the National GTD Registry in 2017. Methods We p…
View article: Morphology combined with <i>HER2</i> D-DISH ploidy analysis to diagnose partial hydatidiform mole: an evaluation audit using molecular genotyping
Morphology combined with <i>HER2</i> D-DISH ploidy analysis to diagnose partial hydatidiform mole: an evaluation audit using molecular genotyping Open
Aims A hydatidiform mole (HM) is classified as complete (CHM) or partial (PHM) based on its morphology and genomic composition. Ancillary techniques are often required to confirm a morphologically suspected PHM diagnosis. This study sought…
View article: Correction to: Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles
Correction to: Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles Open
View article: Challenges of providing biochemistry results in a patient with Evans syndrome
Challenges of providing biochemistry results in a patient with Evans syndrome Open
A case report of in vivo hemolysis in a female patient with Evans syndrome is described. The patient was admitted with anemia and jaundice and, during her 26-day hospital admission, had 83 samples taken for biochemistry analyses. The labor…
View article: 1730P Dealing with digital paralysis: Surviving a cyberattack in a cancer centre
1730P Dealing with digital paralysis: Surviving a cyberattack in a cancer centre Open
View article: THU618 Adrenal Cell Carcinoma Presenting With Post-menopausal Bleeding And IGF-2 Induced Hypoglycaemia
THU618 Adrenal Cell Carcinoma Presenting With Post-menopausal Bleeding And IGF-2 Induced Hypoglycaemia Open
Disclosure: E.M. Lonergan: None. L.J. Tan: None. E. Ali: None. C.M. Joyce: None. N. Conlon: None. A. O'Sullivan: None. D.J. O'Halloran: None. Background: Non-islet cell tumour hypoglycaemia (NICTH) as a result of IGF-2 secretion is rare wi…
View article: P18-029-23 Prevalence of Inadequate Micronutrient Intake Among Non-Pregnant Non-Lactating Women of Reproductive Age in Mbeya Region, Tanzania
P18-029-23 Prevalence of Inadequate Micronutrient Intake Among Non-Pregnant Non-Lactating Women of Reproductive Age in Mbeya Region, Tanzania Open
View article: Measurement of Human Chorionic Gonadotrophin in Women with Gestational Trophoblastic Disease
Measurement of Human Chorionic Gonadotrophin in Women with Gestational Trophoblastic Disease Open
Objectives: The objective of this study was to collect information on human chorionic gonadotrophin (hCG) laboratory testing and reporting in women with gestational trophoblastic disease (GTD), to assess the associated challe…
View article: Challenging gestational trophoblastic disease cases and mimics: An exemplar for the management of rare tumours
Challenging gestational trophoblastic disease cases and mimics: An exemplar for the management of rare tumours Open
The National GTD service could be an exemplar for the management of rare tumours (such as cholangiocarcinoma) in our jurisdiction which could benefit from a similar constellation of supports. Our study demonstrates the importance of a nomi…
View article: Correction: “You’re actually part of the team”: a qualitative study of a novel transitional role from medical student to doctor
Correction: “You’re actually part of the team”: a qualitative study of a novel transitional role from medical student to doctor Open
View article: “You’re actually part of the team”: a qualitative study of a novel transitional role from medical student to doctor
“You’re actually part of the team”: a qualitative study of a novel transitional role from medical student to doctor Open
View article: Advances in the diagnosis and early management of gestational trophoblastic disease
Advances in the diagnosis and early management of gestational trophoblastic disease Open
Gestational trophoblastic disease describes a group of rare pregnancy related disorders that span a spectrum of premalignant and malignant conditions. Hydatidiform mole (also termed molar pregnancy) is the most common form of this disease.…
View article: IGF-2 mediated hypoglycemia and the paradox of an apparently benign lesion: a case report & review of the literature
IGF-2 mediated hypoglycemia and the paradox of an apparently benign lesion: a case report & review of the literature Open
View article: From Empathy to Compassion Fatigue: A Narrative Review of Implications in Healthcare
From Empathy to Compassion Fatigue: A Narrative Review of Implications in Healthcare Open
Evidence is clear regarding the importance of empathy in the development of effective relationships between healthcare professionals (HCPs) and patients in the delivery of successful healthcare. HCPs have pledged to relieve patient sufferi…
View article: Experience of women on the Irish National Gestational Trophoblastic Disease Registry
Experience of women on the Irish National Gestational Trophoblastic Disease Registry Open
This study is unique in being the first survey of women on the Irish National GTD registry. It highlights the specific needs of women with molar pregnancy in terms of psychological support, bereavement counselling and peer support groups. …
View article: Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause Open
View article: "I’m Still Here, But No One Hears You": A Qualitative Study of Young Women’s Experiences of Persistent Distress Post Maudsley and Family-Based Therapy for Adolescent Anorexia Nervosa
"I’m Still Here, But No One Hears You": A Qualitative Study of Young Women’s Experiences of Persistent Distress Post Maudsley and Family-Based Therapy for Adolescent Anorexia Nervosa Open
Background: Maudsley and Family-Based Therapies (MFT/FBT) are the current treatment of choice for adolescent AN based on positive outcomes that include weight restoration in around two-thirds of adolescents. Nevertheless around a quarter d…
View article: Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2) Open
Most aldosterone-producing adenomas (APA) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell-clusters of normal adrenals suggests the existence of co-driver mutat…
View article: Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions Open
View article: Case report of a phantom pheochromocytoma
Case report of a phantom pheochromocytoma Open
Plasma free metanephrines or urinary fractionated metanephrines are the biochemical tests of choice for the diagnosis of pheochromocytoma as they have greater sensitivity and specificity than catecholamines for pheochromocytoma detection. …
View article: Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes Open
Introduction Inactivating mutations in CYP24A1 , encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and include…
View article: Inheritance of a paternal <i>ABCC8</i> variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
Inheritance of a paternal <i>ABCC8</i> variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism Open
Advances in genomics and 18 F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes wh…
View article: GP39 A case series of suspected congenital adrenal hyperplasiain one week in a regional endocrine unit
GP39 A case series of suspected congenital adrenal hyperplasiain one week in a regional endocrine unit Open
Congenital adrenal hyperplasia (CAH) is the most common cause of salt wasting during infancy. During workup other rarer causes should also be considered. We report three cases of suspected CAH, aiming to highlight that CAH is not always th…
View article: GP139 The incidence of transient pseudohypoaldosteronism in infancy in ireland: a prospective whole island surveillance study
GP139 The incidence of transient pseudohypoaldosteronism in infancy in ireland: a prospective whole island surveillance study Open
Aim To review the clinical features, presentation, investigations undertaken, and outcome of infantile salt-wasting presenting in the setting of urinary tract infection (UTI) and/or urinary tract malformation (UTM) over a two-year surveill…
View article: DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency Open
During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 …
View article: Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families
Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families Open
Our study emphasizes the utility of next generation sequencing in identifying causative mutations in complex inherited cardiac disease. We also report a novel pathogenic NKX2.5 mutation.
View article: The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2‐W68G mutation
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2‐W68G mutation Open
Key Clinical Message In infants, especially with novel previously undescribed mutations of the K ATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a seco…