Exploiting structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.

Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations of encoding 3-β-hydroxysterol Δ-24-reductase. DHCR24 is regarded as the key enzyme of cholesterol synthesis in the metabolism of brain cholesterol as it catalyzes the reduction of the Δ-24 double bond of sterol intermediates during cholesterol biosynthesis. To date, 15 variants, detected in 2 related and 14 unrelated patients, have been associated with the desmosterolosis disorder.

Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.

This study aimed to widen the knowledge of a recently identified, autosomal-recessive, multiple congenital anomalies syndrome to date observed in only other three children. This is the second report of biallelic mutations in MAPKAPK5 whose impairment during human development has been associated with neurological, cardiac, and facial anomalies combined with fingers and toes malformations. Through the affected patients' genetic and phenotypic features overlap, this report confirms MAPKAPK5 as causative gene and adds unique neurodevelopmental characterization.

Mobile health and implantable cardiac devices: Patients' expectations.

Background: Mobile computing and communication technologies in health services and information (so-called mHealth) have modified the traditional approach in the follow-up of patients with implantable cardiac devices, increased patient engagement and empowerment, reduced healthcare costs and improved patients' outcome. Recent developments in mobile technology, with the introduction of smartphone-compatible devices that can measure various health parameters and transfer automatically generated data, have increased the potential application of remote monitoring and the interest towards mHealth. However, little is known about the patients' interest and expectations of this new technology.