Follicular fluid norepinephrine and dopamine concentrations are higher in polycystic ovary syndrome

The aim of the present study was to compare follicular fluid (FF) levels of norepinephrine (NE) and dopamine (DA) in polycystic ovary syndrome (PCOS) and non-PCOS patients who underwent in vitro fertilization (IVF). Forty-seven PCOS patients (study group) and 61 patients with male factor infertility (control group) who underwent IVF using GnRH agonist protocol were recruited. Concentrations of NE and DA were measured in FF specimens of all patients. Demographic characteristics were comparable between the groups. Significantly higher levels of NE were measured in FF of PCOS patients (median: 61.05?nmol/l) compared to those with male infertility (median: 49.82?nmol/l). Similarly, significantly higher levels of DA were measured in FF of PCOS patients (median: 23.70?nmol/l) compared to those with male infertility (median: 18.28?nmol/l). In conclusion, the FF concentrations of both catecholamine are increased in PCOS patients when compared to non-PCOS patients.     

CBR1 rs9024 genotype status impacts the bioactivation of loxoprofen in human liver

Loxoprofen is an anti‐inflammatory drug that requires bioactivation into the trans‐OH metabolite to exert pharmacological activity. Evidence suggests that carbonyl reductase 1 (CBR1) is important during the bioactivation of loxoprofen. This study examined the impact of the functional single nucleotide polymorphism CBR1 rs9024 on the bioactivation of loxoprofen in a collection of human liver samples. The synthesis ratios of trans‐OH loxoprofen/cis‐OH loxoprofen were 33% higher in liver cytosols from donors homozygous for the CBR1 rs9024 G allele in comparison with the ratios in samples from donors with heterozygous GA genotypes. Complementary studies examined the impact of CBR1 rs9024 on the bioactivation of loxoprofen in lymphoblastoid cell lines. CBR1 rs9024 genotype status impacts the synthesis of the bioactive trans‐OH metabolite of loxoprofen in human liver.     

Clinical evaluation of platelet-rich plasma and bioactive glass in the treatment of intra-bony defects

BACKGROUND: There are limited numbers of studies focused on the using of platelet-rich plasma (PRP) combined with different types of bone substitutes in intra-bony defects. Aim: The purpose of this study was to evaluate the effect of bioactive glass graft material (BG) with and without PRP on the clinical healing of intra-bony defects. MATERIALS AND METHODS: Twenty-nine intra-bony defects were randomly treated with either PRP/BG or BG alone. Clinical parameters were recorded at baseline and repeated 9 months after surgery and surgical reentries were also performed. RESULTS: The results showed that both treatment modalities were effective. Pocket depth reduction of 3.60 +/- 0.51 mm, clinical attachment gain of 3.3 +/- 1.77 mm and defect fill of 3.47 +/- 0.53 mm were noted in the PRP/BG group, with 3.29 +/- 1.68, 2.86 +/- 1.56 and 3.36 +/- 0.55 mm improvements, respectively, noted for the BG group. None of the differences between the two treatment modalities were statistically significant. CONCLUSIONS: It is suggested that both PRP/BG combination and BG alone are effective in the treatment of intra-bony defects. The results also showed that using PRP with BG has no additional benefit in the reduction of pocket depth, clinical attachment gain and defect fill.     

Lower vitamin D level is associated with poor coronary collateral circulation

Objectives. Vitamin D regulates calcium and bone homeostasis, and parathyroid hormone (PTH) secretion. Cross-sectional associations between lower vitamin D levels and cardiovascular diseases have been reported, but the relationship between vitamin D levels and collateral arteries in stable coronary artery disease (CAD) has not been reported before. Design. Two hundred and fourteen patients with above 95% stenosis in at least one epicardial coronary artery were consecutively recruited after coronary angiography (CAG) during the winter season. The coronary collateral circulation (CCC) was graded using Rentrop classification. Poor CCC group included patients with Rentrop Grade 0–1 CCC and control group included patients with Rentrop Grade 2–3 CCC. Vitamin D and PTH levels were measured on the day of CAG. Results. In the poor CCC group, vitamin D levels were lower (34 ± 25 pmol/L vs. 49 ± 33 pmol/L; p = 0.01) and the prevalence of vitamin D deficiency (< 37 pmol/L) was higher (67% vs. 43%; p = 0.01) compared to the controls. PTH levels, calcium, and phosphate levels were not significantly different between the groups. Female gender, lower HDL cholesterol, and lower vitamin D levels were independently correlated with poor CCC in the study population. Conclusion. Lower vitamin D levels may be associated with poor collateral development in patients with stable CAD.     

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.Methods:Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of “in silico” analyses, protein prediction, and functional consequences.Results:Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.Conclusion:Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.