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Full-Text Articles in Life Sciences
Assessing Medication Compliance And The Usage Of Complementary Therapies Effecting Hba1c Among Patients With Type 2 Diabetes Mellitus In A Tertiary Care Hospital In Karachi, Pakistan, Neelam Nasruddin
Theses & Dissertations
Background: Diabetes Mellitus is a chronic illness. It remains to be a major public health matter and a financial burden on the medical system worldwide. This condition can be managed and better treatment strategies and compliance can reduce the risk of complications. In 2022, there will be around 33,000,000 new cases of diabetes worldwide, with 26.7% of the adults in Pakistan being affected, predicts the (International Diabetes Federation, 2022). However, it is observed that most individuals turn to complementary and alternative methods (CAM)/Traditional medicine because of the rising cost of therapy, adverse effects of anti-diabetic medications, and accessibility concerns.
Purpose: …
The Clinical And Genetic Spectrum Of Autosomal-Recessive Tor1a-Related Disorders, Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Shahnaz Ibrahim
The Clinical And Genetic Spectrum Of Autosomal-Recessive Tor1a-Related Disorders, Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Shahnaz Ibrahim
Department of Paediatrics and Child Health
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has …