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

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 subject’s mean-K value (ρ = 0.926, P < 0.0005) compared to Spectralis default settings (ρ = 0.663, P < 0.0005). 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 device’s default-K setting. This must be considered when taking area measurements and lateral measurements parallel to the retinal surface

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

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