58 research outputs found
supplemetary_methods – Supplemental material for Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family
No full textSupplemental material, supplemetary_methods for Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family by Nikolai Paul Pace, Christopher Rizzo, Alexia Abela, Mark Gruppetta, Stephen Fava, Alex Felice and Josanne Vassallo in Clinical Medicine Insights: Case Reports</p
A current perspective of pituitary adenoma MRI characteristics: a review
No full textMR imaging is an essential and fundamental tool in the diagnosis, management, and follow-up of patients with pituitary adenomas (PAs). Recent advances have continued to enhance the usefulness of this imaging modality. This article focuses on signal intensity patterns of PAs and associated clinical characteristics, vertical extension patterns, and cavernous sinus invasion with a special focus on the clinical implications that arise. A search using Medline and Google Scholar was conducted using different combinations of relevant keywords, giving preference to recent publications. A higher proportion of GH-secreting PAs are hypointense on T2 weighted images compared to other tumor subtypes. Hypointense tumors are generally smaller compared to hyperintense ones, and among the GH-secreting subgroup, a better response to somatostatin analogue treatment was noted together with an association for a densely granulated pattern. Nonfunctional PAs show a predilection to extend upwards while GH-secreting PAs and prolactinomas show a predominantly inferior extension growth pattern. Further studies to better understand the mechanisms responsible for this behavior are anticipated. Further development, refining and validation of predictive scoring systems for tumor behavior might be useful adjuncts in the management of patients with PAs.</p
An analysis of craniopharyngioma patients in Malta : epidemiology, patient characterisation and long-term sequelae
No full textBACKGROUND: Despite being benign, craniopharyngiomas are challenging tumours to manage and can cause significant morbidity and mortality in both the paediatric and adult population.METHOD: Our aim was to analyse epidemiology, patient characteristics and long-term sequalae through a population-based study in Malta. A thorough research was carried out to identify patients who were diagnosed with craniopharyngioma in our local population. Subjects were identified from various hospital databases. Presenting features, patient and tumour characteristics, treatment modalities, long-term sequelae and epidemiology were analysed.RESULTS: From a cohort of 29 patients, 62.1% were male. The mean age at presentation was 32.4 years (s.d. ± 19.0). 11 patients (37.9%) were diagnosed with childhood onset craniopharyngioma (age at presentation < 20 years) whilst 18 patients (62.1%) had adult-onset craniopharyngioma. Median follow up period since time of diagnosis was 13.0 years (IQR 5–25). For incidence estimates, 13 patients who were diagnosed between June 2008 and June 2019 were included. The background population formed 4.8 million patient-years at risk. The overall SIR was 3.0/1,000,000/year, with the highest SIR in the 10–19 year age group. The estimated prevalence rate was 52.7/1,000,000 people, with lower prevalence rates for childhood- compared to adult-onset (20.3/1,000,000 vs 32.4/1,000,000 people). Visual disturbances and symptoms secondary to raised intracranial pressure were the commonest presenting complaints. Most tumours were multi-cystic (42.9%) and were commonly located in the intrasellar region with suprasellar extension. The median longest tumour diameter was 31.0 mm (IQR 21–41), with statistically significant difference between childhood- and adult-onset disease; 43.0 mm (IQR 42.5–47.25) vs 27.0 mm (IQR 20.55–31.55) (P = 0.011). All 24 patients who underwent neurosurgical intervention (82.8%) had adamantinomatous craniopharyngioma. 58.6% of patients required radiotherapy. The commonest long-term sequalae were hormone deficiencies (93.1%), followed by obesity (20.7%). Most patients required hormonal supplementation of more than one pituitary axis. 7 patients (30.4%) had evidence of tumour regrowth or recurrence during follow-up. 3 patients passed away throughout their follow up.CONCLUSION: From a cohort of 29 patients, 62.1% were male. The mean age at presentation was 32.4 years (s.d. ± 19.0). 11 patients (37.9%) were diagnosed with childhood onset craniopharyngioma (age at presentation < 20 years) whilst 18 patients (62.1%) had adult-onset craniopharyngioma. Median follow up period since time of diagnosis was 13.0 years (IQR 5–25). For incidence estimates, 13 patients who were diagnosed between June 2008 and June 2019 were included. The background population formed 4.8 million patient-years at risk. The overall SIR was 3.0/1,000,000/year, with the highest SIR in the 10–19 year age group. The estimated prevalence rate was 52.7/1,000,000 people, with lower prevalence rates for childhood- compared to adult-onset (20.3/1,000,000 vs 32.4/1,000,000 people). Visual disturbances and symptoms secondary to raised intracranial pressure were the commonest presenting complaints. Most tumours were multi-cystic (42.9%) and were commonly located in the intrasellar region with suprasellar extension. The median longest tumour diameter was 31.0 mm (IQR 21–41), with statistically significant difference between childhood- and adult-onset disease; 43.0 mm (IQR 42.5–47.25) vs 27.0 mm (IQR 20.55–31.55) (P = 0.011). All 24 patients who underwent neurosurgical intervention (82.8%) had adamantinomatous craniopharyngioma. 58.6% of patients required radiotherapy. The commonest long-term sequalae were hormone deficiencies (93.1%), followed by obesity (20.7%). Most patients required hormonal supplementation of more than one pituitary axis. 7 patients (30.4%) had evidence of tumour regrowth or recurrence during follow-up. 3 patients passed away throughout their follow up.peer-reviewe
When opposites are one and the same
No full textWater balance disorders following neurosurgery are well recognised and may give rise to both hypo- and hypernatraemia. We present the case of a 42-year-old male who developed a triphasic response after extended transsphenoidal surgery for a pituitary stalk lesion. The patient presented with a 4 month history of unremitting frontal headaches and dizziness. MRI confirmed a 15×15 mm stalk lesion. Clinical examination including formal visual perimetry was unremarkable. Blood tests revealed primary hypothyroidism but were otherwise normal. His past medical history included hypertension and alcoholism. He was referred to the UK where he underwent extended transsphenoidal surgery. In the immediate postoperative period, he developed polyuria (670 ml/h) and polydipsia (500 ml/h) which led to a negative fluid balance (of 2 L over 12 hours), serum sodium of 142 mmol/l, high serum osmolality of 299 mOsmol/kg and low urine osmolality of 131. The patient was normoglycaemic and did not receive any diuretics. Desmopressin (initally subcutaneous then desmotabs) reduced the polyuria and, together with intravenous fluids (2 L of 5% dextrose/day between days 1 and 2) and ad libitum drinking, restored normonatraemia. Hydrocortisone 10-5-5 mg was started on the 6th postoperative day in view of a morning cortisol of 25 nmol/l. On the 7th day post-op he developed severe SIADH with a serum sodium of 120 mmol/l, which was managed conservatively with fluid restriction (1.5 l/day). He was clinically euvolaemic, with normal kidney function (creatinine 53 Umol/l). Despite fluid restriction, fluid intake exceeded urine output (19 ml/h) producing a positive fluid balance of +1.5 l and a further fall in serum sodium to 119 mmol/l. Here the patient complained of headaches, unsteadiness and lethargy but no confusion or seizures. On day 12 the patient redeveloped polyuria (250 ml/hour) for which desmotabs 100mcgs daily were started. In anticipation of a triphasic response he was continued on ad libitum fluid intake and desmopressin was further increased to 100–200 mcgs as the patient was still waking up hourly to micturate. He was advised to omit one dose a week to allow excess water to be offloaded. On the 13th postoperative day he developed a serum sodium of 138 mmol/l, serum osmolality 299 mOsm/kg and urine osmolality of 79 mOsm/kg. Histology confirmed a pituicytoma (WHO grade 1); Ki-67 <1%.peer-reviewe
Epidemiology and radiological geometric assessment of pituitary macroadenomas: population‐based study
No full textEpidemiology of craniopharyngiomas : a population-based study in Malta
No full textBACKGROUND: Despite being benign tumours, craniopharyngiomas are challenging to manage and can cause significant morbidity and mortality in both the paediatric and adult population. The aim of the study was to analyse the epidemiology of craniopharyngiomas, patient and tumour characteristics through a population-based study in Malta, enabling a better quantification of the disease burden.METHODS: Thorough research was carried out to identify the number of patients who were diagnosed with craniopharyngiomas. Epidemiological data, including both standardised incidence rates (SIR) and prevalence rates, were established in a well-defined population. For incidence estimates, patients who were diagnosed between 2008 and 2019 were included. The background population formed 4.8 million patient-years at risk.RESULT: Twenty-nine subjects were identified and included in our study. The overall SIR was 0.3/100,000/year, with a higher SIR for males compared to females (0.4/100,000/year and 0.2/100,000/year, respectively). The highest SIR was recorded in the 10–19 year age group. The estimated prevalence rate amounted to 5.27/100,000 people, with a lower prevalence rate for childhood-onset when compared to the adult-onset category (2.03/100,000 vs 3.24/100,000 people). The median longest tumour diameter was 31.0 mm (IQR 21–41), with a statistically significant difference between childhood- and adult-onset disease; 43.0 mm (IQR 42.5–47.25) vs 27.0 mm (IQR 20.55–31.55) (P = 0.011).CONCLUSION: Through this population-based study, accurate and up-to-date prevalence and incidence rates for craniopharyngiomas are reported. These provide a clearer reflection of the true health burden of the disease.peer-reviewe
The life journey of gifted adults : a narrative exploration of developmental differences
No full textThe experiences of culturally diverse gifted learners have become a focus for research within the last decade, as have the experiences of gifted adults, yet few of these studies have been completed within Australia. The majority of research currently available in this field within Australia focuses on gifted children or adolescents. This doctoral research investigates the narrative lives of gifted adults across multicultural Australia. Interviews with Indigenous, Asian and European participants provided an array of cultural perspectives, and also represented a range of religious beliefs including Atheist, Buddhist, Christian, and Islamic viewpoints. Their culturally diverse life experiences, education, moral and spiritual development are shared through the presentation of their perspectives, insights and understandings of the phenomenon of giftedness. The study involved a bricolage of qualitative research methodology and data collection strategies, including phenomenology, ethnography, narrative and art inquiry, to inform the research. Therefore the narratives are collected from interview data, value activities and collage work. The research journey is complemented by metaphoric imagery and key themes are also represented visually. The author uses a bicompetent approach to research incorporating both traditional academic and indigenous styles of presentation. The combination of these methodologies and variety of data collection and analysis strategies used resulted in a many faceted, multi-voiced dissertation contributing to the literature on giftedness by exploring an under utilised source, the gifted adults of multicultural Australia, whilst honouring their narrative life stories
Lipodystrophy : focus on HIV Lipodystrophy
No full textLipodystrophy is a rare condition which can be inherited or acquired, localised or generalised. It is characterised by abnormal adipose tissue distribution and in some cases underlying metabolic derangement, including diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovaries and acanthosis nigricans. Today, most cases of lipodystrophy are associated with human immunodeficiency virus (HIV). This article gives a review of the possible mechanisms associated with HIV lipodystrophy, namely HIV infection itself, genetic susceptibility to HIV lipodystrophy and effects of treatment with highly active antiretroviral therapy (HAART). Treating HIV lipodystrophy is challenging. The various treatment options currently available for treating lipodystrophy are reviewed.peer-reviewe
Society for Endocrinology Endocrine Update 2019
No full textA sixty-four-year old lady with a past medical history of total thyroidectomy for Graves’ disease and atrial fibrillation on amiodarone was referred to the endocrine out-patients in view of hypothyroidism. Since starting amiodarone, the TSH was noted to be elevated at 75 mU/l and the free T4 was 18 pmol/l. The patient complained of non-specific lethargy and was administered levothyroxine 50 mcg daily. Despite this her TSH remained elevated at 147 mU/l with a free T4 of 17.3 pmol/l and a free T3 of 2 pmol/l. TSH interference was ruled and a pituitary profile was normal. In the time of 2 years, despite gradual augmentation of her levothyroxine dose, the TSH remained elevated. At this point it was suspected that amiodarone might be causing type 1 5’ deiodinase enzyme inhibition leading to reduced peripheral conversion of T4 to T3. Hence the patient was commenced on a trial of liothyronine 12.5 mcg twice a day in addition to her levothyroxine. This eventually resulted in normalization of her thyroid function tests. Amiodarone induced hypothyroidism highlights the importance of life long thyroid function monitoring (free T3, free T4 and TSH) in patients on amiodarone. This case of amiodarone-induced hypothyroidism also reveals another possible indication for levothyroxine/liothyronine combination therapy.peer-reviewe
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