A5091849587- Diabetes Management and Research
- Growth Hormone and Insulin-like Growth Factors
- Pituitary Gland Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Diabetes and associated disorders
- Hypothalamic control of reproductive hormones
- Genetic Syndromes and Imprinting
- Diabetes Treatment and Management
- Skin Diseases and Diabetes
- Childhood Cancer Survivors' Quality of Life
- Genomics and Chromatin Dynamics
- Adrenal and Paraganglionic Tumors
- Sexual Differentiation and Disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Urological Disorders and Treatments
- Neurological diseases and metabolism
- Ultrasound in Clinical Applications
- Parathyroid Disorders and Treatments
- Medication Adherence and Compliance
- Pediatric Urology and Nephrology Studies
- Congenital Heart Disease Studies
- Pediatric Hepatobiliary Diseases and Treatments
- Testicular diseases and treatments
- Hedgehog Signaling Pathway Studies
- Thyroid and Parathyroid Surgery
University of Malta
2016-2023
Mater Dei Hospital
2009-2021
St. Luke's Hospital
2005
Great Ormond Street Hospital
2004
University College London
2004
Context: Mutations within the gene encoding pituitary-specific transcription factor POU1F1 are associated with combined pituitary hormone deficiency (CPHD). Most of affected individuals manifest GH, prolactin, and TSH deficiency. Objective: We have now screened 129 CPHD isolated GH for mutations POU1F1. Results: Causative were identified in 10 (7.8%). Of these, five patients harbored dominant negative R271W mutation, which is a well-recognized mutational hot spot. also second frequently...
Summary Introduction The Gli family of zinc finger ( GLI ) transcription factors mediates the sonic hedgehog signalling pathway HH essential for CNS , early pituitary and ventral forebrain development in mice. Human mutations this have been described patients with holoprosencephaly HPE ), isolated congenital hypopituitarism CH cranial/midline facial abnormalities. Mutations Sonic SHH associated but not despite murine studies indicating involvement development. Objectives/Methods We aimed to...
The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in spinal cord neurogenesis hypothalamus. Here, we report a recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia cerebellar hypoplasia, scoliosis, delayed puberty congenital hypogonadotropic hypogonadism (CHH). Expression studies revealed...
Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations FGFR3, including thanatophoric dysplasia, achondroplasia (ACH) developmental delay and AN (SADDAN syndrome), Crouzon syndrome AN. There are isolated reports of patients ACH In this series, we report clinical biochemical data on five male patients, four one hypochondroplasia (HCH), who developed without SADDAN.We compared the results a 1.75 g/kg oral glucose tolerance test...
To assess the incidence and mode of presentation type 1 diabetes mellitus (T1DM) in children adolescents younger than 14 yr age between January 2006 December 2010 Malta.A nationwide prospective study which collected data from newly diagnosed T1DM who presented to only paediatric team available Malta. The degree ascertainment was estimated be 100%. Incidence rates by group year were using real values patients population statistics. Trend analysis carried out Poisson's regression analysis.From...
A prepubertal 12-year-old girl was referred with short stature (height −2.68 SDS). She had been born small for gestation, at term, to healthy unrelated parents. Right hip developmental dysplasia needed corrective osteotomy. The only clinical findings were asymptomatic bilateral fourth metatarsals (figures 1 and 2), present from early childhood, but doctors often reassured her parents about this anomaly in the past. Figure 1 Bilateral brachymetatarsia …
Article The Management of Sellar Masses: Not All Pituitary Tumours Require Surgery for Diagnosis and/or Therapy was published on April 1, 2004 in the journal Journal Pediatric Endocrinology and Metabolism (volume 17, issue 4).
<b><i>Background:</i></b> We report the case of a female infant with hypoparathyroidism due to an activating mutation in calcium-sensing receptor gene. <b><i>Case Report:</i></b> The child presented neonatal period clinical seizures associated severe hypocalcaemia, hyperphosphataemia, low parathyroid hormone levels and elevated urine calcium:creatinine ratios. She required intravenous calcium phenobarbitone initially, then oral 1-alfacalcidol...
Context Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. Case description We describe a two-year old girl with due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma elevated. Additionally, assay low cross-reactivity...
Abstract PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A, which in turn controls GABAergic fate spinal cord neuronal development hypothalamus. Here, we report novel, recessive syndrome associated with mutation. Patients exhibited intellectual disability, ataxia cerebellar hypoplasia, scoliosis delayed puberty congenital hypogonadotropic hypogonadism (CHH). Expression studies revealed...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Background: There is limited evidence on the biomechanical effects of type 1 diabetes mellitus (T1DM) children’s feet. This study aimed to determine whether children living with T1DM aged 10 16 years have altered foot structure and gait parameters compared same-aged without medical conditions. Methods: A nonexperimental, case-control was conducted. Thirty-four healthy were recruited. Participants underwent a clinical examination followed by instrumented analysis using Oxford Foot Model...
<h3>Background</h3> Lack of education and confidence on the appropriate use administration glucagon by non-trained carers can lead to medication errors untreated hypoglycaemic episodes. <h3>Purpose</h3> To validate usefulness a specifically developed educational tool kit intended for pharmacists timely glucagon. <h3>Material methods</h3> A Glucagon Tool Kit was created as part continuous professional training pharmacists. The consisted an online video, information sheet informative chart....