Publications by authors named "Debono M"

Introduction: Cortisol is an essential stress hormone and failure of its production, known as adrenal insufficiency (AI), is associated with significant mortality due to adrenal crisis. The Short Synacthen Test (SST) is the current diagnostic test of choice for AI, but it is both invasive and resource intensive. Globally, there is an unmet need for a non-invasive, cost-effective test.

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MicroRNAs are involved in post-transcriptional regulation of gene expression. Due to their regulatory role, microRNAs are differently expressed during specific conditions in healthy and diseased individuals, so microRNAs circulating in the blood could be used as diagnostic and prognostic biomarkers for various diseases and conditions. We want to investigate the variability of circulating microRNAs and bone turnover markers in weekly time intervals in older women.

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Glucocorticoids are commonly used for neurological disorders, but they can have significant adverse effects, including adrenal insufficiency, hyperglycaemia, osteoporosis and increased infection risk. Long-term use of corticosteroids requires the prescriber to plan risk mitigation, including monitoring and often coprescribing. This article highlights the potential risks of corticosteroid prescribing and draws together up-to-date guidance with multispecialty input to clarify ways of reducing those risks.

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BACKGROUND: Worldwide, adults and children are at risk of adrenal insufficiency as a result of adrenal suppression from use of anti-inflammatory glucocorticoids and opiates, as well as infectious diseases. The adrenocorticotropin (ACTH) stimulation test is the reference standard for diagnosis of adrenal insufficiency but requires clinic attendance and venesection. Salivary cortisone reflects free serum cortisol, and samples can be collected at home and posted to a laboratory.

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Context: Glucocorticoids suppress the hypothalamic-pituitary-adrenal (HPA) axis, resulting in tertiary adrenal insufficiency (AI). When weaning patients off glucocorticoids there is no consensus on whether to maintain patients on prednisolone or convert to hydrocortisone.

Objective: To investigate HPA axis recovery in patients on long-term prednisolone and assess outcome after hydrocortisone conversion.

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Context: The adrenocorticotropin hormone stimulation test (AST) is used to diagnose adrenal insufficiency, and is often repeated in patients when monitoring recovery of the hypothalamo-pituitary-adrenal axis.

Objective: To develop and validate a prediction model that uses previous AST results with new baseline cortisol to predict the result of a new AST.

Methods: This was a retrospective, longitudinal cohort study in patients who had undergone at least 2 ASTs, using polynomial regression with backwards variable selection, at a Tertiary UK adult endocrinology center.

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Article Synopsis
  • People of all ages can have problems with their adrenal glands, which can be caused by infections or medication use.
  • A test that checks cortisone levels in saliva at home is easy and preferred by patients over another test done at the hospital.
  • The study showed that while the home test is effective, there are delays in getting results back from the lab, which can make it harder for doctors to help patients quickly.
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The sun imposes a 24-h periodicity to life and circadian rhythms have evolved to maintain homoeostasis through the day/night cycle. In humans, there is a central clock that controls the sleep/wake cycle which is paralleled metabolically by a fast/feed cycle. The clock maintains homoeostasis by synchronising metabolism to the time of feeding.

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In patients with suspected phaeochromocytoma, biochemical screening of urine or blood for excess secretion catecholamines and/or their metabolites is performed. Elevated levels of catecholamines and metanephrines help in establishing the diagnosis of phaeochromocytoma. In two patients with adrenal lesions who were subjected to biochemical testing significantly elevated urinary normetanephrines appeared to establish the diagnosis of phaeochromocytoma.

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Selective attention is an important cognitive phenomenon that allows organisms to flexibly engage with certain environmental cues or activities while ignoring others, permitting optimal behaviour. It has been proposed that selective attention can be present in many different animal species and, more recently, in plants. The phenomenon of attention in plants would be reflected in its electrophysiological activity, possibly being observable through electrophytographic (EPG) techniques.

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The high sensitivity of antidoping detection tests creates the possibility of inadvertent doping due to an athlete's unknowing ingestion of contaminated environmental sources such as dietary supplements, food, or drinks. Recently, athletes denying use of a prohibited substance have claimed that the positive antidoping tests was due to exchange of bodily fluids with a nonathlete partner using a prohibited substance. Measurement of drugs in semen is largely limited to one or very few samples due to the inaccessibility of sufficiently frequent semen samples for detailed pharmacokinetics.

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Article Synopsis
  • Researchers looked at how cortisol, a hormone, affects the death rates in people with adrenal incidentalomas, which are growths on the adrenal glands found by accident.
  • They studied over 3,600 patients from different countries to see if high cortisol levels linked to more health problems and heart issues.
  • The study found that out of the patients, about 10% died over an average of 7 years, and they analyzed other health conditions that might be related to these adrenal growths.
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Background And Objectives: Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal disorder initially described as a static neurodevelopmental condition. However, patient caregivers frequently report progressive muscular hypertonicity and functional decline. We evaluated a cohort of patients with MLIV to determine whether neurologic disability correlates with age.

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Introduction: The supportive care needs of long-term childhood brain tumour survivors, now teenagers and young adults (TYAs), and their caregivers are largely unknown. We aimed to describe their supportive care needs and explore associations between needs and quality of life (QoL).

Methods: Participants were recruited from long-term follow-up clinics (in three NHS Trusts in England) and online.

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Gait and balance difficulties are among the most common clinical manifestations in adults with X-linked adrenoleukodystrophy, but little is known about the contributions of sensory loss, motor dysfunction, and postural control to gait dysfunction and fall risk. To quantify gait and balance deficits in both males and females with adrenoleukodystrophy and evaluate how environmental perturbations (moving surfaces and visual surrounds) affect balance and fall risk. We assessed sensory and motor contributions to gait and postural instability in 44 adult patients with adrenoleukodystrophy and 17 healthy controls using three different functional gait assessments (25 Foot Walk test, Timed Up and Go, and 6 Minute Walk test) and computerized dynamic posturography.

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Summary: In this case report, we describe the management of a patient who was admitted with an ectopic ACTH syndrome during the COVID pandemic with new-onset type 2 diabetes, neutrophilia and unexplained hypokalaemia. These three findings when combined should alert physicians to the potential presence of Cushing's syndrome (CS). On admission, a quick diagnosis of CS was made based on clinical and biochemical features and the patient was treated urgently using high dose oral metyrapone thus allowing delays in surgery and rapidly improving the patient's clinical condition.

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Purpose: There is no consensus on quality of life (QOL) in patients with acromegaly requiring medical treatment after surgery compared with those achieving remission by surgery alone.

Methods: QuaLAT is a cross-sectional study comparing QOL in surgery-only treated acromegaly patients versus those requiring medical treatment post-surgery. Patients attending clinics were identified and divided into-Group 1: patients who had surgery only and were in biochemical remission, Group 2: all patients on medical treatment post-surgery, Group 3: patients from Group 2 with biochemical control.

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Purpose: Teenage and young adult (TYA) survivors of childhood brain tumours and their family caregivers can experience many late effects of treatment that can hamper the transition to living independent lives. Yet, their long-term supportive care needs are largely unknown. We investigated the supportive care needs of TYA survivors and their caregivers and explored the role and perceived use of support.

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Purpose Of Review: Patients with adrenal insufficiency (AI) irrespective of being on glucocorticoid replacement therapy still suffer from increased morbidity and mortality. A major contributing factor is an inability of conventional glucocorticoid treatment to mirror the physiological cortisol rhythm. Novel strategies to replicate the cortisol rhythm using hydrocortisone infusion pumps and oral modified release hydrocortisone have now been developed and confirmed to offer benefits to patients.

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Article Synopsis
  • Current practices for managing adult growth hormone deficiency (AGHD) in Europe vary significantly and do not always align with established guidelines.
  • A survey involving 28 centers from 17 countries revealed that most AGHD patients have non-functioning pituitary adenomas and that GH diagnosis often requires stimulation tests.
  • There is insufficient knowledge about AGHD among healthcare professionals outside of endocrinology, and improvements in education and coverage for GH treatment are necessary to enhance patient care.
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Unlabelled: Lumbar spine volumetric bone mineral density (BMD) measured using quantitative computed tomography (QCT) can discriminate between postmenopausal women with low areal BMD with and without vertebral fractures. QCT provides a 3D measure of BMD, excludes the vertebral posterior elements and accounts for bone size. This knowledge could contribute to effective treatment targeting of patients with low BMD.

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Objective: The goal of this study was to determine the incidence of postoperative urinary retention (POUR) in men after carotid endarterectomy (CEA) and to identify preventable risk factors for the development of this complication.

Methods: All male patients who underwent CEA from 2014 to June 2018 were identified. Exclusions included CEA with concomitant cardiac surgery, baseline dialysis, and indwelling or straight catheterization.

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Context: Vertebral fractures are the hallmark of osteoporosis. MicroRNAs (miRNAs) are a prominent class of gene regulators likely to affect bone homeostasis, including bone remodelling and fracture healing by altering gene expression in bone cells.

Objective: This study sought to compare the levels of circulating miRNAs in older women with osteoporotic vertebral fractures, and/or low BMD and healthy controls, and to correlate miRNAs expression levels with BTMs.

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A 46-year-old woman presented with hypertension and renal disease. Investigations showed severe hypercalcaemia due to primary hyperparathyroidism. Imaging demonstrated renal calculi and an incidental left adrenal lesion.

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Background: Surgery for Graves' disease (GD) is usually performed after adequate control with medical treatment. Occasionally, rapid pre-operative optimization is required. The primary objective was to compare the outcomes of patients undergoing elective surgery for well-controlled GD with those undergoing rapid pre-operative treatment.

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