Three-dimensional ultrasonographic placental volume in gestational diabetes mellitus

Objectives: We aimed to evaluate the placental volume and placental mean gray value in gestational diabetes mellitus (GDM) and healthy placentas using three-dimensional (3D) ultrasound and Virtual Organ Computer-aided AnaLysis (VOCAL).

Methods: This case-control prospective study consisted of 39 singleton pregnancies complicated by GDM and 42 healthy singleton pregnancies matched for gestational age, maternal age and parity. Placental volume and placental volumetric mean gray values were evaluated. The placental volume (cm³) was analyzed using the VOCAL imaging analysis program and 3D histogram was used to calculate the volumetric mean gray value (%).

Results: Placental volume was significantly larger in GDM (411.59?±?170.82 versus 343.86?±?128.94?cm³; p?=?0.046). There was no significant difference in mean gray value between GDM and healthy placentas (36.65?±?7.02 versus 38.71?±?7.91, respectively; p?=?0.277). Placental volume was significantly correlated with gestational week (r?=?0.219, p?=?0.035) and parity (r?=?0.228, p?=?0.048). There was negative significant relation between placental volume and umbilical artery systolic/diastolic ratio, pulsatility index and resistance index (r?=??0.278, p?=?0.007; r?=??0.315, p?=?0.002; r?=??0.322, p?=?0.001, respectively).

Conclusions: Placental volume increases significantly in GDM, whereas mean gray values do not alter significantly. These data may reflect the placental changes in GDM placentas that may help to understand the pathophysiology better.     

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

Alzheimer's disease (AD) is a genetically complex disorder for which the definite diagnosis is only accomplished postmortem. Mutations in 3 genes (APP, PSEN1, and PSEN2) are known to cause AD, but a large number of familial cases do not harbor mutations in these genes and several unidentified genes that contain disease-causing mutations are thought to exist. We performed whole exome sequencing in a Turkish patient clinically diagnosed with Alzheimer's disease from a consanguineous family with a complex history of neurological and immunological disorders and identified a mutation in NOTCH3 (p.R1231C), previously described as causing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Complete screening of NOTCH3 in a cohort of 95 early onset AD cases and 95 controls did not reveal any additional pathogenic mutations. Although the complex history of disease in this family precluded us to establish segregation of the mutation found with disease, our results show that exome sequencing is a rapid, cost-effective and comprehensive tool to detect genetic mutations, allowing for the identification of unexpected genetic causes of clinical phenotypes. As etiological based therapeutics become more common, this method will be key in diagnosing and treating disease.     

Pineal gland calcification, lumbar intervertebral disc degeneration and abdominal aorta calcifying atherosclerosis correlate in low back pain subjects: A cross-sectional observational CT study

The goal of this cross-sectional observational study was to assess the possible impact of pineal gland calcification upon the intervertebral disc degeneration and abdominal aorta atherosclerosis in subjects with low back pain, and to investigate the course of these processes with aging. The study was carried out on 81 (66 women and 15 men) subjects: younger than 45 years (group X, n = 22), 45–65 years of age (group Y, n = 45), and older than 65 years (group Z, n = 14). In addition to clinical data, computed tomography (CT) scan of the brain as well as X-ray and CT examination of the lumbar spine were recorded in this study. The degree of disc degeneration and calcification rates of aortic wall and pineal gland were independently determined by two radiologists. Both ratio of calcified pineal gland and density of pineal calcification increased progressively with aging. Also, both the degree of aortic wall calcification and disc degeneration score increased with advancing age. On CT scan, a positive correlation between degree of aortic wall calcification and disc degeneration score was found (r = 0.306, p < 0.01). Importantly, there was a positive association between calcification of the pineal gland and degenerative disc disease in X-ray or CT study (r = 0.378 and r = 0.295, p < 0.005 and p < 0.01, respectively), as well as between abdominal aorta atherosclerosis and pineal calcification (r = 0.634, p < 0.001). Our findings suggest that there is a significant interaction between pineal gland calcification and lumbar intervertebral disc degeneration and also abdominal aorta atherosclerosis. However, further studies with a larger subject cohorts are needed.     

Severe early-onset preeclampsia is not associated with a change in placental catechol O-methyltransferase (COMT) expression

The genetic deletion of catechol O-methyltransferase (COMT) in mice produces a preeclampsia-like phenotype, with mice exhibiting hypertension, proteinuria, and histological changes, consistent with human pathological features. 2-Methoxyoestradiol, a metabolite of COMT, increases human trophoblast invasiveness in vitro under hypoxic conditions, providing further support that decreased COMT expression may have a role in preeclampsia. However, evidence confirming decreased COMT expression in human disease has been limited to small studies of placentas obtained from cases of term preeclampsia. We examined COMT expression in placentas obtained from healthy term pregnancies (n = 14), preterm normotensive pregnancies (n = 8), and pregnancies complicated by severe preterm preeclampsia (delivery at < 34 weeks' gestation; n = 22). Among our preeclamptic cohort were 10 pregnancies further complicated by HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets); and one pregnancy complicated by an eclamptic seizure. COMT expression was analyzed by RT-PCR, Western analysis, and IHC. COMT was mainly expressed in the syncytiotrophoblast. We did not find a significant difference in placental COMT expression in severe preeclampsia compared with either term or preterm normotensive cohorts. Our results suggest that severe preeclampsia may not be associated with a decrease in placental COMT expression.     

Prevalence and risk factors for human papillomavirus DNA in cervical cytology

Objectives

This study aimed to detect the presence and prevalence of HPV-DNA in the cervical swab samples obtained from patients with cervical cancer, premalignant cervical lesions and benign cervical smear results, and to identify the potential risk factors influencing this prevalence.

Study design

Smear preparations were examined and classified according to the Bethesda system. HPV-DNA detection and genotyping was carried out using polymerase chain reaction combined with reverse hybridization line-probe assays. Age, smoking habit, age at first sexual intercourse, number of sexual partners, number of term births, contraceptive method, progesterone therapy, history of sexually transmitted diseases, history or existence of warts, existence of cervical infection and the history of circumcision of male sexual partners were recorded.

Results

Six hundred and forty-two women (96 women with abnormal cervical cytology and 546 women with normal cytology) provided cervical samples. Multiplex PCR testing revealed that prevalence of HPV-DNA was 38.9% in our study population. HPV-DNA was detected in 78.3% of the women with cervical cancer and 76.9% of the women with HGSIL. Abnormal cervical cytology was observed in 30% of HPV-DNA positive cases and in 5.4% of HPV-DNA negative cases. Our findings also indicate that smoking habit, number of sexual partners, history of sexually transmitted diseases, and abnormal cervical cytology were associated with HPV infection. With respect to parity, there was a decreased risk of HPV infection with the increase in the number of births.

Conclusions

Estimates of the prevalence of HPV infection vary greatly around the world, so the factors that contribute to the rare occurrence of cervical cancer after HPV infection might also differ from country to country. Information gathered from this study could be used to prioritize limited screening and treatment services given to woman who have specific characteristics that may put them at an increased risk of HPV disease.     

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family presenting with skeletal, ocular and cardiovascular clinical features. The 37-year-old male propositus, who had chest pain, dyspnea and shortness of breath, was first diagnosed based on the revised Ghent criteria and then subjected to molecular genetic analyses. FBN1 sequencing of the proband as well as available affected family members revealed the presence of a novel variant, c.7828G>C (p.Glu2610Gln), which was not present in any of the unaffected family members. In silico analyses demonstrated that the Glu2610 residue is part of the conserved DINE motif found at the beginning of each cbEGF domain of FBN1. The substitution of Glu2610 with Gln decreased fibrillin-1 production accordingly. Despite the fact that this variation appears to be primarily responsible for the etiology of MFS in the present family, our findings suggest that variable clinical expressions of the disease phenotype should be considered critically by the physicians.     

Isoflavone Genistein Induces Fluid Secretion and Morphological Changes in the Uteri of Post-Pubertal Rats

A reported increase in the incidence of infertility following high genistein intake could be related to alteration in the normal fluid volume and morphology of the uterus in adult female. In view of this, we investigated the effect of this compound on fluid secretion, fluid volume and morphology of the uterus in post-pubertal rats. Methods: Ovariectomised SD rats were treated with 17-β oestradiol (E) (0.8 X 10^-4 mg/kg/day) and genistein (0.5, 5, 10, 25, 50 and 100 mg/kg/day) for three days. Following drug treatment, in-vivo uterine perfusion was performed and the rate of fluid secretion and the volume of fluid in the uterus were determined via changes in weight (μl/min) and F-dextran concentration of the perfusate respectively. The animals were then sacrificed and the uteri were removed for weight determination, morphological analyses and proliferative cell nuclear antigen (PCNA) expression analyses by Western blotting. Results: Subcutaneous genistein treatment resulted in a dose-dependent increase in fluid secretion rate, fluid volume and uterine wet weight. Treatment with 100 mg/kg/day genistein resulted in a remarkable increase in the rate of uterine fluid secretion, the volume of the uterine luminal fluid as well as the circumference of the uterine and uterine glandular lumen suggesting an excessive fluid accumulation. Meanwhile, there were evidence of glandular hyperplasia and an increase in the expression of PCNA following treatment with 50 and 100 mg/kg/day genistein. Conclusion: High genistein intake could potentially cause adverse effects on the uterus by inducing excessive fluid secretion and accumulation as well as hyperplasia.     

Depression and anxiety levels of the mothers of children and adolescents with left ventricular assist devices

Ozbaran B, Kose S, Yagdi T, Engin C, Erermis S, Yazici KU, Noyan A, Ozbaran M. Depression and anxiety levels of the mothers of children and adolescents with left ventricular assist devices. Abstract: VADs have been used to provide treatment for end‐stage heart failure. Parents may feel overwhelmed with the VAD regimes responsibility and be affected from this process beside children. In this study, we aimed to evaluate the depressive and anxiety symptoms of mothers of the first eight children equipped with a VAD in Turkey. The mothers of eight pediatric patients living with VADs were filled BDI and STAI at first month of VAD implantation (E.I) and secondly six months after their first evaluation (E.II). In E.I, the BDI mean score of mothers was 20.87, in E.II 14.37. STAI‐S mean score was 53.37 in E.I and 43.62 in E.II. The Wilcoxon nonparametric‐paired t‐test revealed significant difference between baseline and end‐point STAI‐S scores (Z: ?2.035; p: 0.042), and for BDI scores (Z, ?1.965; p, 0.049). Prolonged usage of VAD may increase distress in parents. Psychiatric evaluation and support of the primary caregiver is important for the well‐being of the pediatric patients.     

A novel hydrogen peroxide scavenging assay of phenolics and flavonoids using cupric reducing antioxidant capacity (CUPRAC) methodology

Hydrogen peroxide (H₂O₂), a biologically relevant, non-radical oxidizing species, may be formed in tissues through oxidative processes, but there has been limited information regarding its scavenging by polyphenolic antioxidants. The present study was undertaken to investigate the hydrogen peroxide scavenging (HPS) activity of several polyphenolic compounds, some fruit juices and green tea extract. HPS activity has usually been determined by following the rate of H₂O₂ consumption in an incubation system (H₂O₂ + scavenger) using the classical UV-method at 230 nm. Since some polyphenols have strong absorption in the UV-region, their HPS activity was alternatively determined without interference by directly measuring the concentration of H₂O₂ using the HPS–CUPRAC (cupric reducing antioxidant capacity) method at 450 nm in the presence of a Cu(II) salt (since H₂O₂ is relatively stable, and not scavenged unless transition metal compounds are present as catalysts). Comparison between two groups of phenolics revealed that benzoate derivatives are much stronger H₂O₂ scavengers than cinnamic acids. The findings of the developed method for polyphenolics were statistically alike with those of the reference GSH-Px-DTNB (glutathione peroxidase-5,5′-dithio-bis(2-nitrobenzoic acid)) and HPLC–ECD methods. The proposed spectrophotometric method was rapid, practical, low-cost, and could reliably assay H₂O₂ in the presence of polyphenolic scavengers, without being affected from UV-absorbing substances.