Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene

Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G > T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine (p.Gly187Val) at codon 187. The pregnancy follow-up was uneventful. After delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old.Keywords: Osteogenesis ιmprefecta, skeletal dysplasia, malecular analysis, COL1A2 gen

Evaluation of the vasorelaxant effect of Sugammadex on the arterial smooth muscle in rats

Although NMBAs (Neuro Muscular Blocking Agents) have been used for a long time, postoperative residual curarization is still a significant problem. Nowadays, an agent named Sugammadex is used for the reversal of curarization. It has been presented as a safer agent than its predecessor, neostigmine. The main purpose of this study is to investigate the effects of Sugammadex on rat thoracic aorta and enlighten the mechanism of action and potential benefits in surgical operations with general anesthesia. Twenty Wistar albino rats were used for the experiments. Thoracic aorta segments have been removed and mounted to the organ bath. Contraction and relaxation responses were presented as a percentage of phenylephrine (3x10-5 M) contraction. After recording contractile responses of Sugammadex (10-8-10-4 M), relaxation responses of Sugammadex (10-8-10-4 M) have been recorded both in the presence and absence of L-NAME (3x10-5 M) (Potent Nitric Oxide Sentase Inhibitor). Finally, relaxation responses of sugammadex-rocuronium have been recorded. Sugammadex caused slightly noticeable and concentration-dependent contraction on isolated thoracic aorta strips. Sugammadex also caused potent and concentration-dependent relaxation on isolated rat thoracic aorta. The relaxation response caused by Sugammadex has been diminished significantly in the presence of L-NAME. Administration of rocuronium with Sugammadex did cause neither relaxation nor any additional contractile effect on isolated rat thoracic aorta strips. Sugammadex is a promising agent in reversing rocuronium-induced neuromuscular block. Although the adverse effects of this agent are not studied in detail, it seems Sugammadex is safer than neostigmine. The side effects of anesthetic agents are one of the main problems of surgical procedures, including neurosurgery, gynecology, and obstetrics. Especially acute hypotension may be fatal in neurosurgery and gynecological operations. Sugammadex should be used carefully in adjusted and individualized doses to avoid hypotension-related adverse effects. [Med-Science 2023; 12(3.000): 629-34

Anticancer activity of Heat Shock Protein 70 (HSP70) Inhibitor, JG-98, against human cervical cancer HeLa and ovarian cancer SKOV-3 cells

Cervical and ovarian cancer are two aggressive neoplasms for women, still with high mortality and morbidity. Among the molecules and compounds that have anticancer activity, it was studied the JG-98, a heat shock protein 70 (HSP70) inhibitor. It demonstrated inhibitory effects on the growth of neoplastic cells, mediated by the induction of apoptosis, with anti-proliferation activity on neoplastic cells via the apoptotic pathway. The authors investigated the antiproliferative effects of JG-98 on human cervical cancer HeLa and ovarian cancer SKOV-3, examined by a standard XTT assay. Apoptotic effects and oxidative status were also evaluated by flow cytometry, ELISA, and total oxidant status assays in HeLa cells, respectively. The IC50 values of JG-98 in HeLa and SKOV-3 cells were recorded as 1.79 and 2.96 μM, respectively. Flow cytometry results showed that JG-98 treatment remarkably increased the proportion of apoptotic cells at IC50 concentration. The JG-98 treatment significantly increased the proteins Bax, cleaved caspase 3, cleaved PARP, and 8-oxo-dG levels, all indicators of cellular apoptosis. These findings show that JG-98 significantly decreased cell proliferation and increased apoptosis in HeLa cells, suggesting that JG-98 has a promising anti-tumor effect in cervical and ovarian cancers. [Med-Science 2023; 12(1.000): 20-5