Dysregulation of miRNA expression in patients with chronic myelogenous leukemia at diagnosis: a systematic review.

The present systematic review aimed to explore miRNAs as a potential biomarker for early diagnosis of chronic myeloid leukemia (CML). A systematic search was conducted in three electronic databases, including Web of Science, Scopus and PubMed, to obtain relevant articles investigating the alteration of miRNA expression in patients with CML. The authors found miRNAs whose expression changes are effective in the induction of CML disease.

The second family affected with a PRDM8-related disease.

Introduction: Lafora disease (LD) is a severe form of progressive myoclonus epilepsy characterized by generalized seizures, myoclonus, intellectual decline, ataxia, spasticity, dysarthria, visual loss, and in later stages, psychosis and dementia. To date, mutations in the EPM2A and EPM2B/NHLRC1 genes have been identified as the common causes of LD. However, a mutation in PRDM8 has been reported only once in a Pakistani family affected with early-onset Lafora disease.

Clinical spectrum in multiple families with primary COQ deficiency.

Coenzyme Q COQ , an essential cofactor in the electron-transport chain is involved in ATP production. Primary COQ deficiency is clinically and genetically a heterogeneous group of mitochondrial disorders caused by defects in the COQ synthesis pathway. Its mode of inheritance is autosomal recessive and it is characterized by metabolic abnormalities and multisystem involvement including neurological features.