Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Jun 2022
Case ReportsMyoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions.
Copy number variants have been increasing due to a rise in the availability of array comparative genomic hybridisation, which occupies an important place in diagnosis, especially in patients with epilepsy, dysmorphic findings, and intellectual disability. We detected 2q13 chromosomal duplication and 6p21.32 chromosomal deletion in a patient under follow-up due to epilepsy, developmental retardation, dysmorphic findings, and asymmetric overgrowth in our clinic since the age of six months. The parents had only 2q13 mutations. ⋯ We think that 6p21.32 chromosomal deletion caused resistant epilepsy and lipodystrophy in this patient. We anticipate that this case will contribute to the literature by linking disorders caused by the current chromosomal abnormality to clinical findings. Key Words: Myoclonic astatic seizure, Resistant epilepsy, Dermal atrophy, Chromosomal microarray analysis.
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J Coll Physicians Surg Pak · Jun 2022
CeO2 Nanoparticles Effect on Acute Hemorrhagic Shock Induced-hepatic Stress Injury in a Mouse Model.
To explore the effects of CeO2 nanoparticles on liver injury, inflammation, oxidative stress, and coagulation function in hemorrhagic shock (HS)-induced hepatic stress injury. ⋯ CeO2 nanoparticles, Hemorrhagic shock-induced hepatic stress injury, Inflammatory response, Oxidative stress, Coagulation function.