Published in Journal of Mother and Child
Inherited metabolic disorders (IMDs ) are a rare and diverse group of metabolic conditions mainly caused by enzyme deficiencies, and in some of these, hormonal dysfunction is a relatively common complication. It may present in childhood and subsequently hormonal replacement is required throughout their life. Endocrinopathies can be a presenting sym...
Published in Journal of Mother and Child
Published in Journal of Mother and Child
Isolated methylmalonic acidurias represent a heterogeneous genetic group of inborn errors of propionate metabolism with the common biochemical hallmark of elevated methylmalonic acid present in tissues and body fluids. It was first described in the 1960s and over the years better understanding of the disease and its presentation, earlier diagnosis,...
Published in Journal of Mother and Child
Over the last two decades, gene therapy has been successfully translated to many rare diseases. The number of clinical trials is rapidly expanding and some gene therapy products have now received market authorisation in the western world. Inherited metabolic diseases (IMD) are orphan diseases frequently associated with a severe debilitating phenoty...
Published in Journal of Mother and Child
This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.
Published in Proceedings on Privacy Enhancing Technologies
We apply multiparty computation (MPC) techniques to show, given a database that is secret-shared among multiple mutually distrustful parties, how the parties may obliviously construct a decision tree based on the secret data. We consider data with continuous attributes (i.e., coming from a large domain), and develop a secure version of a learning a...
Published in Proceedings on Privacy Enhancing Technologies
Image hosting platforms are a popular way to store and share images with family members and friends. However, such platforms typically have full access to images raising privacy concerns. These concerns are further exacerbated with the advent of Convolutional Neural Networks (CNNs) that can be trained on available images to automatically detect and...
Published in Proceedings on Privacy Enhancing Technologies
Abstract: Users trust IoT apps to control and automate their smart devices. These apps necessarily have access to sensitive data to implement their functionality. However, users lack visibility into how their sensitive data is used, and often blindly trust the app developers. In this paper, we present IoTWATcH, a dynamic analysis tool that uncovers...
Published in Proceedings on Privacy Enhancing Technologies
With the rapid development of deep learning techniques, the popularity of voice services implemented on various Internet of Things (IoT) devices is ever increasing. In this paper, we examine user-level membership inference in the problem space of voice services, by designing an audio auditor to verify whether a specific user had unwillingly contrib...
Published in Journal of Electrical Engineering
Cardiovascular Disease (CVD) is considered as one of the principal causes of death in the world. Over recent years, this field of study has attracted researchers’ attention to investigate heart sounds’ patterns for disease diagnostics. In this study, an approach is proposed for normal/abnormal heart sound classification on the Physionet challenge 2...
