Muhammad Umar Nasir¹, Muhammad Adnan Khan^1,2, Muhammad Zubair³, Taher M. Ghazal^4,5, Raed A. Said⁶, Hussam Al Hamadi^7,*

CMC-Computers, Materials & Continua, Vol.73, No.1, pp. 953-963, 2022, DOI:10.32604/cmc.2022.028958

Abstract One of the most difficult jobs in the post-genomic age is identifying a genetic disease from a massive amount of genetic data. Furthermore, the complicated genetic disease has a very diverse genotype, making it challenging to find genetic markers. This is a challenging process since it must be completed effectively and efficiently. This research article focuses largely on which patients are more likely to have a genetic disorder based on numerous medical parameters. Using the patient’s medical history, we used a genetic disease prediction algorithm that predicts if the patient is likely to be diagnosed with a genetic disorder. To… More >

MOHAMED AGHYAD AL KABBANI^1,2, GILBERT WUNDERLICH^3,4, CHRISTOPH KöHLER⁵, HANS ZEMPEL^1,2,*

BIOCELL, Vol.46, No.4, pp. 847-853, 2022, DOI:10.32604/biocell.2022.018144

Abstract Tauopathies comprise a spectrum of genetic and sporadic neurodegenerative diseases mainly characterized by the presence of hyperphosphorylated TAU protein aggregations in neurons or glia. Gene therapy, in particular adeno-associated virus (AAV)-based, is an effective medical approach for difficult-to-treat genetic diseases for which there are no convincing traditional therapies, such as tauopathies. Employing AAV-based gene therapy to treat, in particular, genetic tauopathies has many potential therapeutic benefits, but also drawbacks which need to be addressed in order to successfully and efficiently adapt this still unconventional therapy for the various types of tauopathies. In this Viewpoint, we briefly introduce some potentially treatable… More >

Reghan Conrey^1,*, Sebastian Tume², Carlos Bonilla-Ramirez³, Seema Lalani⁴, Dean McKenzie^3,#, Marc Anders^2,#

Congenital Heart Disease, Vol.16, No.2, pp. 171-181, 2021, DOI:10.32604/CHD.2021.014409

Abstract Background: Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality. Surgical outcomes and postoperative courses following congenital heart surgery in patients with Kabuki-Syndrome (KS) have not been well studied. Objectives: The purpose of this study was to describe the postoperative courses and associated outcomes in the largest set of KS patients undergoing congenital heart surgery to date. Methods: Patients with a confirmed molecular diagnosis of KS and a diagnosis of a CHD admitted to Texas Children’s Hospital between January 1, 2000 and January 1, 2020 were included (n… More >