SERUM MOTS-C LEVELS REMAIN UNCHANGED IN PATIENTS WITH PREECLAMPSIA

Objectives: Mitochondrial open-reading-frame of the twelve S rRNA-c (MOTS-c) is a mitochondrial derived peptide which has beneficial effects on muscle metabolism, insulin sensitivity, weight regulation, and bone mineral density. This study aims to investigate whether serum levels of MOTS-c are altered in patients with preeclampsia. Material and methods: This is cross sectional a case-control study of 30 patients with uncomplicated pregnancy, 30 patients with mild preeclampsia and 30 patients with severe preeclampsia that were admitted to the study center between June 2020 and January 2021. Results: When compared to the healthy controls and patients with mild preeclampsia, maternal smoking was significantly more frequent, systolic and diastolic blood pressures were significantly higher and platelet count was significantly lower in patients with severe preeclampsia (p = 0.045, p = 0.0001, p = 0.0001 and p = 0.024 respectively). Serum MOTS-c concentrations were statistically similar in healthy controls, mild and severe preeclampsia patients (159.1 ± 28.7 ng/mL vs 129.6 ± 54.7 ng/mL vs 146.4 ± 48.3, p = 0.166). When compared to the healthy controls, systolic and diastolic blood pressures were significantly higher and platelet count was significantly lower in patients with late onset preeclampsia (p = 0.0001, p = 0.0001 and p = 0.022 respectively). Healthy controls and patients with early and late onset preeclampsia were statistically similar with respect to MOTS-c levels (159.1 ± 28.7 ng/mL vs 126.7 ± 56.9 vs 153.7 ± 39.8, p = 0.102). Conclusions: This study failed to detect any significant relationship between MOTS-c and preeclampsia. Large scale research is needed to clarify if MOTS-c is a novel biomarker for preeclampsia and therapeutic target for preeclampsia patients

An Evaluation of the Protective Effects of Thymoquinone on Amikacin-Induced Ototoxicity in Rats

ObjectivesIn this study we investigated the probable protective effects of thymoquinone on amikacin-induced ototoxicity in rats.MethodsThirty-two healthy rats were divided into four groups (amikacin, amikacin+thymoquinone, thymoquinone, and no treatment). Thymoquinone was fed to the rats via oral gavage in a dose of 40 mg/kg/day throughout the study period of 14 days. Amikacin was given by the intramuscular route in a dose of 600 mg/kg/day. Audiological assessment was conducted by the distortion product otoacoustic emission (DPOAE) and auditory brainstem response (ABR) tests, administered to all rats at the beginning of the study, and also on days 7 and 15. Biochemical parameters were calculated at the termination of the study to evaluate the oxidative status.ResultsThere were significant decreases in DPOAE values and significant increases in ABR thresholds of the amikacin group on days 7 and 15, as compared to the amikacin+thymoquinone group. While ABR thresholds of the amikacin group increased significantly on days 7 and 15 as compared to their initial values, there were no significant differences between the initial and the 7th and 15th day values of ABR thresholds in the amikacin+thymoquinone group. Total oxidant status and oxidative stress index values of the amikacin+thymoquinone group were significantly lower than those of the amikacin group. Total antioxidant status values of the amikacin+thymoquinone group were significantly higher than those of the amikacin group.ConclusionOur study has demonstrated that the ototoxic effect brought forth by amikacin could be overcome with the concurrent use of thymoquinone

Evaluation of the effect of dexamethasone in experimentally induced endolymphatic hydrops in guinea pigs

Purpose: The aim of this study was to investigate the audiological and histopathologic effects of dexamethasone in the treatment of experimentally induced endolymphatic hydrops

Evidence for an association of serum melatonin concentrations with recognition and circadian preferences in patients with schizophrenia

Melatonin, a neuro-differentiation factor, may play a role in the neurodevelopmental origins of schizophrenia. Cognitive impairment and decreased melatonin are reported in schizophrenia; however, the relationship between them remains unclear. We hypothesised that patients with schizophrenia would have lower concentrations of circulating melatonin than healthy controls and that melatonin levels would be associated with cognitive impairment. This study included 47 patients with schizophrenia and 40 healthy controls (HC). Serum melatonin concentrations were measured using the enzyme-linked immunosorbent assay. Positive and Negative Syndrome Scales (PANSS), The Morningness-Eveningness Questionnaire (MEQ), Pittsburgh Sleep Quality Index (PSQI), the Stroop and Oktem verbal memory processes (VMPT) tests were applied. Patients with schizophrenia had lower levels of melatonin compared to the HC group (p=0.016), also after controlling for age, sex, and body mass index (BMI) (p=0.024). In patients with schizophrenia, melatonin concentrations were associated with higher BMI (rho=0.34, p=0.01) and lower MEQ score (rho=-0.29, p=0.035). The patient sample was split into low and high melatonin categories by using the median melatonin concentration in HC as the cut-off. Patients in the low melatonin group had poorer performance in VMPT-Recognition (p=0.026) and Stroop-Colour Error (p=0.032). Notwithstanding its limitations, the findings of this exploratory study suggest that decreased serum melatonin concentrations observed in schizophrenia might also be associated with cognitive impairment and circadian preferences. Future studies are required to investigate the role of melatonergic pathways in patients with schizophrenia

Evidence for an association of serum melatonin concentrations with recognition and circadian preferences in patients with schizophrenia

Melatonin, a neuro-differentiation factor, may play a role in the neurodevelopmental origins of schizophrenia. Cognitive impairment and decreased melatonin are reported in schizophrenia; however, the relationship between them remains unclear. We hypothesised that patients with schizophrenia would have lower concentrations of circulating melatonin than healthy controls and that melatonin levels would be associated with cognitive impairment. This study included 47 patients with schizophrenia and 40 healthy controls (HC). Serum melatonin concentrations were measured using the enzyme-linked immunosorbent assay. Positive and Negative Syndrome Scales (PANSS), The Morningness-Eveningness Questionnaire (MEQ), Pittsburgh Sleep Quality Index (PSQI), the Stroop and Oktem verbal memory processes (VMPT) tests were applied. Patients with schizophrenia had lower levels of melatonin compared to the HC group (p=0.016), also after controlling for age, sex, and body mass index (BMI) (p=0.024). In patients with schizophrenia, melatonin concentrations were associated with higher BMI (rho=0.34, p=0.01) and lower MEQ score (rho=-0.29, p=0.035). The patient sample was split into low and high melatonin categories by using the median melatonin concentration in HC as the cut-off. Patients in the low melatonin group had poorer performance in VMPT-Recognition (p=0.026) and Stroop-Colour Error (p=0.032). Notwithstanding its limitations, the findings of this exploratory study suggest that decreased serum melatonin concentrations observed in schizophrenia might also be associated with cognitive impairment and circadian preferences. Future studies are required to investigate the role of melatonergic pathways in patients with schizophrenia

Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes

Purpose: Martsolf (MS) and Warburg micro syndromes (WARBM) are rare autosomal recessive inherited allelic disorders, which share similar clinical features including microcephaly, intellectual disability, brain malformations, ocular abnormalities, and spasticity. Here, we revealed the functions of novel mutations in RAB3GAP1 in a Turkish female patient with MS and two siblings with WARBM. We also present a review of MS patients as well as all reported RAB3GAP1 pathogenic mutations in the literature. Methods: We present a female with MS phenotype and two siblings with WARBM having more severe phenotypes. We utilized whole-exome sequencing to identify the molecular basis of these syndromes and confirmed suspected variants by Sanger sequencing. Quantitative (q) RT-PCR analysis was carried out to reveal the functions of novel splice site mutation detected in MS patient. Results: We found a novel homozygous c.2607-1G>C splice site mutation in intron 22 of RAB3GAP1 in MS patient and a novel homozygous c.2187_2188delinsCT, p.(Met729_Lys730delinsIleTer) mutation in exon 19 of RAB3GAP1 in the WARBM patients. We showed exon skipping in MS patient by Sanger sequencing and gel electrophoresis. qRT-PCR analysis demonstrated the reduced expression of RAB3GAP1 in the patient with the c.2607-1G>C splice site mutation compared to a healthy control individual. Conclusion: Here, we have studied two novel RAB3GAP1 mutations in two different phenotypes; a MS associated novel splice site mutation, and a WARBM1 associated novel deletion-insertion mutation. Our findings suggest that this splice site mutation is responsible for milder phenotype and the deletion-insertion mutation presented here is associated with severe phenotype