11 research outputs found
Presentation and management of diabetic ketoacidosis in adults in Malta
Aim: The aim of this audit was to assess adherence to local guideline in the management of Diabetic Ketoacidosis (DKA).
Method: Patients admitted with DKA between April 2013 and March 2015 were identified and data was retrospectively collected from patientsâ confidential files and IsoftÂź. Data collected included initial parameters recorded and biochemical investigations taken (initial and subsequent assessment of pH, HCO3-, blood glucose, potassium levels and urinary ketones), insulin regime started and intravenous fluid administered.
Results: During the established time period 40 cases of DKA were identified in 18 patients. Median age was 33 years with a female preponderance of 60%. Six patients had newly diagnosed diabetes mellitus while 8 patients had more than one admission of DKA. All cases had capillary blood glucose monitoring (BGM) and/or venous random blood (plasma) glucose (RBG) checked and pH and HCO3- recorded on admission. 0.9% sodium chloride was the intravenous fluid started in all cases (as recommended by the guideline) and a median of 6.75L was prescribed during the first 24 hours. The median time spent on intravenous insulin infusion was 42.7 hours while the median time to pH >7.30, HCO3- >15mmol/L and negligible urinary ketones were 6.88, 12.83 and 34.5 hours respectively. Subcutaneous insulin was started at a median time of 48.21 hours from initiation of DKA protocol.
Conclusion: This audit showed good adherence to local guideline. The great discrepancy between the time to pH >7.3 and the time to negligible urinary ketones highlights the need to introduce tools to measure systemic ketone production in the management of DKA with an update in the current local clinical practice guideline.peer-reviewe
Identification of an HNF1A p.Gly292fs frameshift mutation presenting as diabetes during pregnancy in a Maltese family
The diagnosis of maturity onset diabetes of the young (MODY) is a challenging process in view of the extensive clinical and
genetic heterogeneity of the disease. Mutations in the gene encoding hepatocyte nuclear factor 1α (HNF1A) are responsible for most forms
of monogenic diabetes in Northern European populations. Genetic analysis through a combination of whole exome sequencing and Sanger
sequencing in three Maltese siblings and their father identified a rare duplication/frameshift mutation in exon 4 of HNF1A that lies within a known
mutational hotspot in this gene. In this report, we provide the first description of an HNF1A-MODY3 phenotype in a Maltese family. The findings
reported are relevant and new to a regional population, where the epidemiology of atypical diabetes has never been studied before. This report
is of clinical interest as it highlights how monogenic diabetes can be misdiagnosed as either type 1, type 2, or gestational diabetes. It also
reinforces the need for a better characterisation of monogenic diabetes in Mediterranean countries, particularly in island populations such as
Malta with a high prevalence of diabetes.peer-reviewe
Thyroid nodules, FNA cytology and thyroid cancer in Malta
INTRODUCTION: Thyroid nodules are very common and elucidating the nature of these thyroid nodules is an important task.METHODOLOGY: Patients who had an ultrasound guided fine needle aspiration (FNA) of a thyroid nodule between January 2008 and June 2012 were retrospectively audited and their ultrasonographic and biochemical characteristics where analysed. For those patients who were operated nodule characteristics were correlated with thyroid histology.RESULTS: 397 thyroid aspirates were identified. Using The Betsheda System for Reporting Thyroid Cytopathology (TBSRTC) 59.5% were classified as category II (benign), 15.4% category IV (follicular) 4.8% category V (suspicious for malignancy) and 8.4% category VI (malignant). Statistical analysis of operated patients (n=97) yielded a positive predictive value for malignancy (for those who were classified according to TBSRTC categories V and VI) of 89.5%, a negative predictive value of 86.4%, sensitivity of 81.0% and specificity of 92.7%.
42 patients who were operated had thyroid malignancy, of whom 41 had a papillary carcinoma and 1 patient had a medullary thyroid carcinoma. The mean age at presentation was 48.0 years (S.D.±12.6 years), the mean largest diameter of the papillary carcinomas was 13.8 mm (S.D.±8.6 mm) and 48.8% had lymph node involvement. 58.5% of patients with malignant histology had more than 1 focus of malignancy in the thyroid. The mean size of thyroid nodule on ultrasound of these patients was 17.5 mm (S.D.±9.4 mm), 53.7% had a hypoechoic nodule and 48.8% had microcalcifications. These findings differed from those who had a follicular adenoma on histology, where 13.0% had a hypoechoic nodule on ultrasound and 16.1% had microcalcifications.CONCLUSIONS: These findings further establish that FNA of thyroid nodules is a very important and helpful tool in the management of thyroid nodules. Important characteristics of thyroid cancer are shown including the high rate of multifocality seen in our patient cohort.peer-reviewe
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The effects of ocular magnification on Spectralis spectral domain optical coherence tomography scan length
Purpose
The purpose of this study was to assess the effects of incorporating individual ocular biometry measures of corneal curvature, refractive error, and axial length on scan length obtained using Spectralis spectral domain optical coherence tomography (SD-OCT).
Methods
Two SD-OCT scans were acquired for 50 eyes of 50 healthy participants, first using the Spectralis default keratometry (K) setting followed by incorporating individual mean-K values. Resulting scan lengths were compared to predicted scan lengths produced by image simulation software, based on individual ocular biometry measures including axial length.
Results
Axial length varied from 21.41 to 29.04 mm. Spectralis SD-OCT scan lengths obtained with default-K ranged from 5.7 to 7.3 mm, and with mean-K from 5.6 to 7.6 mm. We report a stronger correlation of simulated scan lengths incorporating the subjectâs mean-K value (Ïâ=â0.926, Pâ<â0.0005) compared to Spectralis default settings (Ïâ=â0.663, Pâ<â0.0005).
Conclusions
Ocular magnification appears to be better accounted for when individual mean-K values are incorporated into Spectralis SD-OCT scan acquisition versus using the deviceâs default-K setting. This must be considered when taking area measurements and lateral measurements parallel to the retinal surface
Study of the dynamic tear film aberrations using a curvature sensing setup
International audienc
Study of the dynamic tear film aberrations using a curvature sensing setup
International audienc
Measurement of the dynamic aberrations introduced by the tear film in the human eye using a curvature sensor for the optimization of retinal imaging with adaptive optics
International audienc
Measurement of the dynamic aberrations introduced by the tear film in the human eye using a curvature sensor for the optimization of retinal imaging with adaptive optics
International audienc
Measurement of the dynamic aberrations introduced by the tear film in the human eye using a curvature sensor for the optimization of retinal imaging with adaptive optics
International audienc
Functional ectopic adrenocortical carcinoma : a case report
BACKGROUND: Adrenocortical carcinomas (ACC) are rare malignant tumours, with a quoted incidence of 0.7â2.0 cases/million habitants/year, with ectopic ACC being exceptionally rate. Diagnosis is based on clinical and biological assessment supplemented by imaging. Patients commonly present with features secondary to steroid excess, but around 15% of patients are diagnosed incidentally.CASE REPORT: A 54-year old lady, presented to clinic for assessment of possible polycystic ovarian syndrome (PCOS). The patient gave a few months history of facial hirsutism accompanied by excessive weight gain and new onset hypertension. On further questioning, she had more sinister symptoms including easy bruising, proximal myopathy and insomnia. Initial investigations revealed a 0900 h cortisol of 867 nmol/l, testosterone 6.73 nmol/l, oestradiol of 129 pmol/l, DHEAS 2.50 umol/l, Androstenedione 9 (0.35-2.49) ng/ml, 17-hydroxyprogesterone of 24.8 ng/ml. 0900 h Cortisol post over-night Dexamethasone suppression test was 1482 nmol/l, ACTH was undetectable and 24-hour urinary cortisol >4138 nmol/24 hr (<806.8 nmol/24 hr).An abdominal CT revealed a 6 cm solid and irregular retroperitoneal mass, in the right iliac fossa, that was separate from the kidney. The lesion increased in size from 6.3 cm to 10.3 cm in 4 months. She had a surgical resection and histology revealed an adrenocortical carcinoma, with a Ki-67 score of 25% and 20 mitoses per high power field. On immunohistochemistry, the tumour cells were positive for melanin A, synaptophysin and inhibin. Post-operatively, the patient was given 6 cycles of etoposide, doxorubicin and cisplatin as Mitotane was locally unavailable, however it was agreed that this is initiated if there is evidence of metastatic disease during follow up. 0900 h Cortisol level on Day 3 post-operatively was 20 nmol/l. She was started on Hydrocortisone 20 mg-10 mg-10 mg peri-operatively, which was tailed down and eventually stopped 7 months later, once Synacthen test showed normal cortisol response. The patient has remained well and is under regular surveillance with the most recent imaging showing no evidence of disease recurrence.CONCLUSION: Ectopic adrenocortical carcinomas are exquisitely rare tumours and can constitute an exceptional cause of ACTH-independent Cushingâs syndrome. Our case highlights such a functional tumour occurring in a very unusual location, secreting cortisol, androgens and other metabolites. Although very rare, it is an important condition to recognise because of the significant and sinister clinical sequalae that may develop.peer-reviewe