Obesity and insulin resistance associated with lower plasma vitamin B12 in PCOS

Polycystic ovary syndrome (PCOS) shares some or most components of metabolic cardiovascular syndrome, manifested by abdominal obesity, insulin resistance, dyslipidaemia and atherosclerosis. It has been previously demonstrated that folate and vitamin B₁₂ treatment improved insulin resistance in patients with metabolic syndrome. This study first investigated whether PCOS patients have lower or higher vitamin B₁₂, folate and homocysteine concentrations when compared with healthy, age and body mass index matched controls, and, then examined associations between vitamin B₁₂, folate, homocysteine and insulin resistance and obesity in PCOS patients. Homocysteine concentrations and homeostasis model assessment index were higher, whereas concentrations of vitamin B₁₂ were lower in PCOS patients with insulin resistance compared with those without insulin resistance. Serum vitamin B₁₂ concentrations were significantly lower in obese PCOS women in comparison with obese control women (P < 0.05). Fasting insulin, insulin resistance and homocysteine are independent determinants of serum vitamin B₁₂ concentrations in PCOS patients. Insulin resistance, obesity, and elevated homocysteine were associated with lower serum vitamin B₁₂ concentrations in PCOS patients.     

No Strong Association Between HER-2/neu Protein Overexpression and Gene Amplification in High-grade Invasive Urothelial Carcinomas

The generation of urothelial carcinoma is caused by the accumulation of various molecular changes, as in most malignancies. There are conflicting data about the status of HER-2/neu oncogene in urothelial carcinomas. The aim of this study was to determine the status of HER-2/neu oncogene in high-grade invasive urothelial carcinoma of urinary bladder both in protein and DNA level. We evaluated HER-2/neu protein overexpression by immunohistochemistry (IHC) and gene amplification by fluorescent in situ hybridization (FISH) and real-time quantitative PCR in paraffin-embedded samples of high-grade invasive urothelial carcinoma obtained from 36 patients. Polysomy 17 was also assessed by FISH. Immunohistochemically, HER-2/neu protein overexpression was observed in 22 (61.1%) tumors (ten tumors with score 3+ and 12 with score 2+). Fourteen of 36 tumors (38.9%) were evaluated as negative (score 0 or 1+). Complete concordance between FISH and the PCR was seen in all of the samples scored as 0 and 1+ by IHC. HER-2/neu gene amplification was observed in three of 27 (11.1%) tumors by FISH (nine samples were non-informative) and in eight of 36 (22.2%) tumors by the PCR. The complete concordance between HER2-2/neu protein overexpression and gene amplification was seen only in three of 27 tumors. Polysomy 17 was seen in nine tumors (33.3%). The results indicated that, in contrast to breast cancer, there was no strong association between HER-2/neu overexpression and gene amplification in invasive urothelial carcinomas, and polysomy 17 was higher in tumors showing HER-2/neu overexpression.     

Mutations in the EGF-CFC Gene Cryptic Are an Infrequent Cause of Congenital Heart Disease

Cryptic (CFC1), a member of the epidermal growth factor–Cripto/FRL-1/Cryptic (EGF–CFC) gene family, is involved in the evolutionarily conserved establishment of left–right lateral asymmetry. Inactivation of Cfc1 in mice results in laterality defects and complex cardiac malformations. Similarly, mutations in the human CFC1 gene have been identified in patients with heterotaxy syndrome. The cardiac defects in humans resemble those in mice lacking Cfc1. We postulated that some patients with isolated cardiac malformations could also have mutations in the CFC1 gene. Our analysis of the CFC1 gene in 167 patients with congenital heart disease revealed a novel A145T missense variant in 3 patients with type II atrial septal defect. Furthermore, we found the previously characterized R78W polymorphism in another patient with type II atrial septal defect. However, the A145T sequence alteration was also identified in 3 controls, suggesting that this variant is a polymorphism. We conclude that CFC1 variants could be a rare cause of congenital heart disease in patients without laterality defects.     

Genetic polymorphisms in DNA repair gene APE1, XRCC1 and XPD and the risk of pre-eclampsia

Objective

Oxidative stress has been postulated as a major contributor to placental hypoperfusion and ischemia in pre-eclampsia (PE). Reactive oxygen species (ROS) generated during placental ischemia can cause oxidative damage to nucleic acids. Base excision repair (BER) and nucleotide excision repair (NER) are major pathways responsible for removing the oxidative DNA damage. Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage.

Study design

In order to investigate the possible association between DNA repair genes and PE susceptibility, we analyzed genotype and allele distributions of APE1-148, XRCC1-194, XRCC1-399 and XPD-751 genes in 101 patients with PE and 107 healthy women. Differences in genotype distributions and allele frequencies in the cases and the controls were compared for statistical significance using the χ²-test. Haplotype frequencies were estimated using a contingency χ²-test. One-way ANOVA and Mann–Whitney U-test were used for the statistics of the clinical and biochemical parameters.

Results

No significant association between PE and the variant alleles of APE1 codon 148 (OR: 0.77, 95% CI = 0.51–1.15), XRCC1 codon 194 (OR: 0.64, 95% CI = 0.30–1.37), XRCC1 codon 399 (OR: 1.16, 95% CI = 0.78–1.74) and XPD codon 751 (OR: 1.21, 95% CI = 0.81–1.80) was observed. Results of our haplotype analysis demonstrated that there is a high linkage disequilibrium (D′: 1.0, r² = 0.042) between the haplotypes of XRCC1 codon 194 and codon 399 markers.

Conclusions

These preliminary results suggest that the polymorphic variants of APE1-148, XRCC1-194, XRCC1-399, and XPD-751 genes are not significant risk factors for PE development.     

Comparison of Efficacy and Safety of Loteprednol Etabonate 0.5% and Topical Dexamethasone 1% in Post-Vitrectomy Inflammation

Purpose: To compare the efficacy and safety of postoperative topical loteprednol etabonate (LE) 0.5% with dexamethasone (DEX) 0.1% for the treatment of inflammation following pars plana vitrectomy (PPV).

Methods: A total of 150 eyes of 150 patients who underwent transconjunctival PPV for various diagnoses were included in this prospective, randomized study. The patients were assigned into two groups as Group LE (n = 75) and Group DEX (n = 75). Intraocular inflammation, intraocular pressure (IOP), and the intensity of postoperative pain were compared between the groups.

Results: The mean IOP was higher in the patients treated with DEX (p > 0.05). The need for anti-glaucoma medications was significantly lower in Group LE (5.3%) than in Group DEX (17.3%) (p = 0.020). Tyndall scores were less in Group DEX at postoperative Days 1 (p = 0.01) and 3 (p = 0.017). On Day 1, it was more likely for patients to have mild or moderate pain in Group LE (p < 0.001). On Day 3, the number of the patients with no pain was higher in Group DEX (p = 0.005).

Conclusions: Although DEX is more effective in the early postoperative days, LE appears to be as effective in controlling inflammatory response following PPV in the long-term. Topical LE is associated with less increase in the IOP and a lower need for anti-glaucoma medications.     

The simple modification of the reverse Karapandzic flap for reconstructing the subtotal upper lip including the columellar defect: a case report

Reconstruction of the subtotal upper lip with a columellar defect is still a problem for reconstructive surgeons. Various techniques have been reported for this purpose. Each technique has its own drawbacks, and few can be performed in one stage. Although Karapandzic describes the standard procedure that functionally reconstructs large defects in the upper and lower lip, the Karapandzic flap is not sufficient for the columellar defects. It is a simple and safe technique; results are satisfactory, functional, and aesthetically well tolerated, sacrifice less tissue, and are effective for repairing defects. We report a 74-year-old male who presented with a large, fungating, pus-discharging ulcerative mass on his upper lip including the columella. Biopsy results confirmed squamous cell carcinoma. The tumor was excised and defects were reconstructed using a simple modification of the Karapandzic flap. This modification of the Karapandzic flap provides adequate tissue for the subtotal upper lip defect including the columellar defect.