Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive. However, in moderate cases, surgery might be indicated including surgeries for ptosis and strabismus. In this article, we report a Saudi patient with CPEO due to compound heterozygous variants in the DNA polymerase gamma (POLG) gene c.2246T>C p.(Phe749Ser) and c.1735C>T p.(Arg579Trp), which are classified as pathogenic. Proper diagnosis with genetic testing confirmation is important to guide the management and counsel the patient about the prognosis and the management options. The patient was successfully managed with bilateral frontalis sling and illustrates the importance of surgical intervention to improve vision and cosmetic appearance in patients with CPEO. We emphasize the importance of multidisciplinary care in the management of cases of mitochondriopathy, especially CPEO.

Metformin attenuate PTZ-induced apoptotic neurodegeneration in human cortical neuronal cells

Objective: Seizures are one of the neurodegenerative disorders of human being. Metformin has antioxidant properties and commonly used as an oral antidiabetic drug. The current study was aimed to observe the neuroprotective effect of metformin against PTZ-induced apoptotic neurodegeneration in human cortical neuronal cell culture

Methods: To observe that exposure of pentylenetetrazol [PTZ] at the dose of [30mM] for 30 minutes induced neuronal cell death by activation of caspase-3 in human cortical neuronal 2 [HCN-2] cell line. While the metformin at the dose of [20mM] along with PTZ for 30 minutes showed neuroprotection against PTZ-induced neuronal cell loss by MTT assay and Western blot analysis

Results: The results of this study showed that PTZ-induced neuronal cell death by activation of pro apoptotic proteins caspase-3 and 9 whereas the exposure of metformin showed its protective effect against neuronal loss in HCN-2 cell line. Finally, our results showed that exposure of metformin can prevent the harmful effect induced by PTZ in neuronal cells cultures

Conclusions: Our finding suggest that metformin exposure attenuates PTZ-induced neuronal cell death may act as a safe therapeutics and neuroprotective agent for the treatment of neuronal loss as result of seizure

Comparative studies of salivary and blood sialic acid, lipid peroxidation and antioxidative status in oral squamous cell carcinoma [OSCC]

Oral squamous cell carcinoma [OSCC] is considered to be a serious life threatening issue for almost two decades. The objective of this study was to evaluate the over production of lipid peroxidation [LPO] byproducts and disturbances in antioxidant defense system in the pathogenesis of oral cancer. Lipid peroxidation and antioxidant status in OSCC patients were estimated and compared the sensitivity and specificity of circulating biomarkers [MDA, Sialic acid, Catalase, SOD, GSH and Neuraminidase] with B-2 microglobulin [B-2MG] at different thresholds in blood and saliva using receiver operating characteristics [ROC] curve design. Our results showed that the levels of MDA and Sialic acid were significantly increased in plasma of OSCC patients as compared to healthy subjects whereas antioxidant level was significantly decreased. ROC analysis indicated that MDA in saliva is a better diagnostic tool as compared to MDA in blood and B-2MG in blood is better diagnostic marker as compared to B-2MG level in saliva

Potential reproductive health effects and oxidative stress associated with exposure to potassium dichromate [K2Cr2O7] and magnesium sulphate [MgSO4] in male mice

To investigate the potential harmful effects of potassium dichromate and magnesium sulphate causing oxidative stress and reproductive toxicity in adult male mice model. The experimental work was conducted on sixty male mice [Mus musculus] divided into three groups. Mice in group B and C received potassium dichromate and magnesium sulphate of 5.0 and 500 mg/Kg body weight/ml respectively, for sixty days. The blood sample was analyzed to assess oxidative stress and cellular damage. Results showed high malondialdehyde [MDA] and low levels of antioxidant enzymes [catalase [CAT], superoxide dismutase [SOD] and glutathione peroxidase [GPx]] in both potassium dichromate and magnesium sulphate administrated groups as compared to control group. Reduced number of sperm count and excessive destruction of testicular follicles, including destruction of spermatids, leydig cells and sertoli cells, were also seen in both groups. We concluded from present study that potassium dichromate and magnesium sulphate causes oxidative stress by generation of reactive oxygen species [ROS] and causing DNA damage in testicular cells leading to adverse reproductive abnormalities

Comparative study of alterations in tri-iodothyronine [T3] and thyroxine [T4] hormone levels in breast and ovarian cancer

The present study was designed to investigate variations in the levels of thyroid hormones [T3, T4] in breast and ovarian cancers patients. A total 120 subjects were recruited [without thyroid history] divided into three groups; A, B and C. Group A as control with healthy individuals. While group B and group C were consisting of breast cancer and ovarian cancer patient respectively. Blood samples [5 ml] were taken and analyzed to estimate the levels of serum T3 [tri-iodothyronine] and T4 [thyroxin] hormones. Statistically significant difference [P=0.000* and P=0.017*] was obtained among all groups. A significant increase in T3 [P=0.000*] and T4 [0.005*] levels was observed among breast cancer patients as compared to healthy controls. While for ovarian cancer patients conflicting results were found for T3 and T4 levels in the serum i.e. insignificant difference was found in T3 [P=0.209] and T4 [P=0.050] as compared to control. Our results showed that in the breast cancer and ovarian cancer patients the thyroid hormone [T3 and T4] level has been altered from the normal ranges as compared to the normal healthy individuals. We conclude that hyperthyroidism has profound effects on breast cancer and ovarian cancer cells proliferation

Neuroprotective effect of vitamin c against ptz induced apoptotic neurodegeneration in adult rat brain

The present study was designed to observe the effect of PTZ on expression of caspsae-3, and to evaluate the neuroprotective role of vitamin C [vit-C] against PTZ-induced apoptotic neurodegeneration in adult rat brain. We observed that administration of a single conclusive dose of pentylenetetrazol [PTZ 50mg/kg] in adults rats induced epileptic seizure and increased activation of caspase-3 and caused neuronal death. Further, rats were injected with vit-C [250 mg/kg] 30 min before PTZ injection. The protective effect of vit-C against PTZ-induced apoptotic neurodegeneration in adult rat brain was observed using Western blot analysis and Nissl staining. The results showed that conclusive dose of PTZ-induced seizure, increased expression of caspase-3 and neuronal apoptosis in adult rat brain. Whereas, the pretreatment of vit-C along with PTZ showed significantly decreased expression of caspase-3 as compare to control group. Finally, our results indicated that vit-C can prevent some of the deleterious effect of seizure and neuronal degeneration induced by PTZ in adult rat brain

Phorbol myristate acetate [PMA] induced megakaryocytic differentiation of K562 cells from human chronic myelogenous leukaemia patient

To observe the K562 cell line derived from a patient of chronic myelogenous leukemia differentiated into megakaryocytes by growing in the presence of phorbol myristate acetate [PMA]. The differentiation process of K562 cells was monitored by the expression of a platelet cell marker, CD61 through immunocytochemistry using mouse alkaline phosphatase antialkaline phosphatase [APAAP] complex employing fast red TR as substrate, crystal violet and MTT assay used for cell growth analysis. The crystal in the presence of PMA, cells obtained were of large size and less in number as compared to cells incubated without PMA where they were of smaller size and more in number and immunochemical reaction used to detect the presence of CD61, a platelet cell marker that is expressed during differentiation of K562 cells to megakaryocytes. The results showed that the addition of PMA to the growing culture of K562 cell lines induced differentiation, observed through CD61 expression and increase in cell size and cessation of proliferation

Vitamin-C protect ethanol induced apoptotic neurodegeneration in postnatal rat brain

To evaluate ethanol effects to induced activation of caspsae-3, and to observe the protective effects of Vitamin C [vit-C] on ethanol-induced apoptotic neurodegeneration in rat cortical area of brain. Administration of a single dose of ethanol in 7-d postnatal [P7] rats triggers activation of caspase-3 and widespread apoptotic neuronal death. Western blot analysis, cells counting and Nissl staining were used to elucidate possible protective effect of vit-C against ethanol-induced apoptotic neurodegeneration in brain. The results showed that ethanol significantly increased caspase-3 expression and neuronal apoptosis. Furthermore, the co-treatment of vit-C along with ethanol showed significantly decreased expression of caspase-3 as compare to control group. Our findings indicate that vit-C can prevent some of the deleterious effect of ethanol on developing rat brain when given after ethanol exposure and can be used as an effective protective agent for Fetal Alcohol Syndrome [FAS]

Effect of fetal calf serum on cellular proliferation of mouse Y1 adrenocortical cells in vitro

Fetal calf serum [FCS] is a supplement used in cell culture media for successful culturing. The present study was design to observe the effect of FCS on cellular proliferation. Effect of different concentrations [0, 1, 5, 10 and 20%v/v] of FCS on cellular proliferation was determined by the uptake of crystal violet, MTT assay. Total cellular protein was also measured colorimetrically to observe the effect of FCS on growth of mouse Y1 adrenocortical cells. The results showed a gradual increase in proliferation of Y1 cells by increasing concentrations of FCS in Dulbecco's modification of Eagle's medium [DMEM]. Highest proliferation rate of Y1 adrenocortical cells was achieved with cultured cells after 6 days in DMEM medium containing 10 to 20% FCS. The study suggested that supplementation of 20% FCS increase cell proliferation and acts as a growth factor results in cell division and DNA synthesis