Lack of association between the CYP11B2 gene polymorphism and preeclampsia, eclampsia, and the HELLP syndrome in Turkish women

OBJECTIVES: It is possible that altered control of aldosterone synthase gene (CYP11B2) expression or translation may be responsible for hypertension. Hypertension is one of the major components of preeclampsia. We present here a study investigating the association between the CYP11B2 gene polymorphism in the promoter region at the position of -344 and preeclampsia. STUDY DESIGN: We analyzed a group of Turkish women for preeclampsia (n=143), eclampsia (n=36), and the HELLP syndrome (n=55) and compared them with controls (n=147). Genotypes for CYP11B2 were determined by polymerase chain reaction followed by digestion with BsuRI restriction enzyme. RESULTS: The -344T/T, -344C/T, and -344C/C genotypes were found at comparable frequencies among the study groups, between the study and control groups, and between the study groups combined and the control group (p>0.05). We combined the genotypes of TC and CC (polymorphic) and compared them with the TT (wild-type) genotype. There was no significant difference in the frequency of the TC plus CC genotypes among the study groups, between the study and control groups, and between the study groups combined and the control group (p>0.05). There was no association of the CYP11B2 polymorphism among the preeclampsia, eclampsia, and HELLP groups and controls. CONCLUSIONS: The CYP11B2 gene polymorphism is not directly associated with preeclampsia, eclampsia, and the HELLP syndrome in women with these conditions. Therefore, this polymorphism may not be a risk factor for these disorders, at least not in the Turkish population.     

New molecularly targeted therapies for glioblastoma multiforme

Glioblastoma multiforme (GBM) is the most malignant brain tumor in adults, exhibiting high mortality. Standard therapy (surgery, radiotherapy and chemotherapy with temozolomide) has only limited effectiveness. The progress in genomics regarding GBM, in the detection of new markers of oncogenesis, abnormalities in signalling pathways, tumor microenvironment, and pathological angiogenesis over the past decade are briefly discussed. The role of novel prognostic in this review biomarkers [isocitrate dehydrogenases 1 and 2, CpG island methylator phenotype, promoter methylation status of the MGMT (O-6-methylguanine-methyltransferase) gene] is also discussed. New targeted therapeutic approaches are classified into several functional subgroups, such as inhibitors of growth factors and their receptors, inhibitors of proteins of intracellular signaling pathways, epigenetic gene-expressing mechanisms, inhibitors of tumor angiogenesis, tumor imunotherapy and vaccines. Finally novel possibilities for GBM treatment are summarized in this review.     

Kabuki Syndrome with additional dental findings: a case report

Kabuki Syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome of unknown etiology. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. The characteristic dental findings include hypodontia, microdontia, absence of upper lateral and lower central incisors and upper molars, abnormal tooth shape, widely spaced teeth, ectopic upper molars and malocclusion. The purpose of this report is to describe common and additional dental findings and dental treatment of an 11-year old female patient with KS. This case report emphasises the importance of oral and dental manifestations for diagnosis.     

Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia

We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficiency (G6PD) and autoimmune antibodies. They were given vitamin K on admission. Inadvertent administration of vitamin K could have been related to an acute reduction in hemoglobin concentration. To prevent renal damage, plasmapheresis with fresh frozen plasma was done to clear bilirubin and plasma hemoglobin. The hyperbilirubinemia responded to plasmapheresis. However, acute tubular necrosis complicated the clinical course in one patient, and several sessions of hemodialysis were required. In conclusion, intravascular hemolysis should be considered in patients with hepatitis A infection, marked hyperbilirubinemia, and anemia. Although hepatitis A vaccination is not yet recommended for routine administration, high-risk patients, including those with a G6PD deficiency, should be vaccinated against hepatitis A.     

Fever of unknown origin: A value of F-FDG-PET/CT with integrated full diagnostic isotropic CT imaging

Aim

The aim of presented work is to evaluate the clinical value of ¹⁸F-FDG-PET/CT in patients with fever of unknown origin (FUO) and to compare PET/CT finding with the results of the following investigation.

Material and method

48 patients (24 men, 24 women, mean age 57.6 years with range 15-89 years) underwent ¹⁸F-FDG-PET/CT due to the fever of unknown origin. All examinations were performed using complex PET/CT protocol combined PET and whole diagnostic contrast enhanced CT with sub-millimeter spatial resolution (except patient with history of iodine hypersensitivity or sever renal impairment). CT data contained diagnostic images reconstructed with soft tissue and high-resolution algorithm. PET/CT finding were compared with results of biopsies, immunology, microbiology or autopsy.

Results

The cause of FUO was explained according to the PET/CT findings and followed investigations in 44 of 48 cases—18 cases of microbial infections, nine cases of autoimmune inflammations, four cases of non-infectious granulomatous diseases, eight cases of malignancies and five cases of proved immunity disorders were found. In 46 cases, the PET/CT interpretation was correct. Only in one case, the cause was overlooked and the uptake in atherosclerotic changes of arteries was misinterpreted as vasculitis in the other. The reached sensitivity was 97% (43/44), and specificity 75% (3/4) respectively.

Conclusion

In patients with fever of unknown origin, ¹⁸F-FDG-PET/CT might enable the detection of its cause.     

Is there any relationship between cardiovascular risk markers and young women with diminished ovarian reserve?

Objective: It has been widely known that cardiovascular disease (CVD) risk is increased in menopause. The aim of the study was to evaluate whether this risk was elevated in young women with diminished ovarian reserve (DOR).

Methods: A hundred women with DOR and 100 women with normal ovarian reserve (NOR) attending the infertility unit at Suleymaniye Maternity, Research &;Training Hospital, were enrolled in the study. CVD risk markers such as insulin resistance (defined by the homeostasis model assessment ratio [HOMA-IR]), C-reactive protein (CRP), low-density lipoprotein (LDL), high-density lipoprotein (HDL), total cholesterol (TC), and triglyceride (TG) were assessed.

Results: HOMA-IR, CRP, TG, LDL levels were higher and HDL was lower among patients with DOR compared to the controls (p?0.05 for all). There were positive associations between DOR and HOMA-IR, CRP, TG, LDL levels and a negative correlation with HDL (p?0.05 for all). However, multivariate logistic regression analysis showed that HOMA-IR, CRP, TG, and HDL were independent variables that were associated with DOR.

Conclusions: CVD risk markers were increased in women with DOR. Further studies with larger groups are needed to investigate the nature of the link in these patients.     

The effect on wound healing of pazopanib and bevacizumab compared with corticosteroid in experimental glaucoma filtration surgery

AIM: To compare the effects of bevacizumab and pazopanib with corticosteroids on wound healing after trabeculectomy. METHODS: In the study, 35 New Zealand white rabbits were randomly divided into five groups. Apart from the first group, limbus-based trabeculectomy was performed for the eyes of rabbits. No postoperative treatment was administered for group I. Topically administered saline, prednisolone acetate (1%), bevacizumab 5 mg/mL, pazopanib 5 mg/mL for group II, III, IV and V respectively were applied for groups 6h daily for 28d. On day 28 of the experiment, eyes were enucleated and histologically and immunohistochemically analyzed. RESULTS: The fibroblast counts of groups IV and V were determined to be lower than those of groups II and III (P<0.05). In the mononuclear cell (MNC) count evaluation, no statistically significant difference was determined between the treatment groups (P>0.05). The immunohistochemical staining intensity of fibroblast growth factor β (FGF-β) and vascular endothelial growth factor (VEGF) was determined to be lower in groups IV and V than in groups II and III (P<0.05). No statistically significant difference was determined between groups IV and V in respect of fibroblast count, MNC count, FGF-β and VEGF staining intensity (P>0.05). The platelet derived growth factor β (PDGF-β) intensity was lower in group V than in groups II, III and IV (P<0.05). While the PDGF-β staining intensity was significantly lower in group IV than in group II, the difference compared with group III was not statistically significant (P>0.05). CONCLUSION: Bevacizumab and pazopanib might be good alternatives of corticosteroid treatment on delaying wound healing in glaucoma surgery.     

A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation

Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated intravascular coagulation. In the present patient, genetic study revealed Arg178Trp, a mutation found widely in European population; but this is the first case of homozygous Arg178Trp mutation who suffered from catastrophic purpura fulminans phenotype.