A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature. [PDF]
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Xiangwen W, Duo Z, Wenjing H, Hui H.
europepmc +2 more sources
Reusable Elements for the Systematic Design of Privacy-Friendly Information Systems: A Mapping Study
Privacy by design is a new paradigm that promotes embedding privacy considerations throughout the development of information systems, to protect user privacy. Privacy engineering is the nascent field of research and practice that aims to realize this new
Julio C. Caiza +4 more
doaj +1 more source
Realising the right to data portability for the domestic Internet of Things [PDF]
There is an increasing role for the IT design community to play in regulation of emerging IT. Article 25 of the EU General Data Protection Regulation (GDPR) 2016 puts this on a strict legal basis by establishing the need for information privacy by design
A Crabtree +45 more
core +3 more sources
Poster: Ontology Enabled Chatbot for Applying Privacy by Design in IoT Systems
Our aim is to create a personal assistant, a chatbot, that can answer queries from software developers regarding Privacy by Design (PbD) methods and applications throughout the design phase of IoT system development.
Lamya Alkhariji +3 more
semanticscholar +1 more source
Community clouds within M-commerce: a privacy by design perspective
The paper establishes the link between community clouds and m-commerce. The research questions attempt to provide an understanding of the various shopping domains and their convergence through mobile devices.
Farid Shirazi, Amna Iqbal
doaj +1 more source
The Challenges of Privacy by Design [PDF]
Heralded by regulators, Privacy by Design holds the promise to solve the digital world's privacy problems. But there are immense challenges, including management commitment and step-by-step methods to integrate privacy into ...
Spiekermann-Hoff, Sarah
core +1 more source
A Data Scope Management Service to Support Privacy by Design and GDPR Compliance
In order to empower user data protection and user rights, the European General Data Protection Regulation (GDPR) has been enforced. On the positive side, the user is obtaining advantages from GDPR.
L. Piras +6 more
semanticscholar +1 more source
Applying Contextual integrity to Open Data Publishing [PDF]
Open data publishing by both corporate and public bodies has increased significantly in recent years and this type of data could soon be developing into a real commodity.
Attard J, Orlandi F, Scerri S, Auer S +22 more
core +2 more sources
Privacy matters:issues within mechatronics [PDF]
As mechatronic devices and components become increasingly integrated with and within wider systems concepts such as Cyber-Physical Systems and the Internet of Things, designer engineers are faced with new sets of challenges in areas such as privacy.
Azorin-Lopez, Jorge +5 more
core +4 more sources
Response Rate to Treatment of Achalasia Patients With Thyroid Disorders Versus Euthyroid Patients: A Cross-Sectional Study in Iran. [PDF]
ABSTRACT Background Achalasia, characterized by impaired esophageal motility, presents a challenge in diagnosis and management. Emerging evidence suggests a potential association between achalasia and thyroid disorders (TD). Understanding the prevalence and treatment response of achalasia in Iranian patients with TD compared to euthyroid counterparts ...
Mehrban A +7 more
europepmc +2 more sources

