Thrombophilic mutations in Iranian patients with infertility and recurrent spontaneous abortion

Factor V Leiden (FVL) G1691A, methylenetetrahydrofolate reductase (MTHFR) C677T, and factor II (FII) G20210A mutations are three important causes of thrombophilia, the condition that might be related to infertility and recurrent spontaneous abortion (RSA). In this study we evaluated the presence of these three mutations in 36 female patients with unexplained infertility, 65 female patients with unexplained RSA, and 62 healthy fertile women as control group. DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of each mutation. In addition, activated protein C resistance (APC-R) was also evaluated. The frequencies of FVL, MTHFR, and FII mutations (heterozygous and homozygous) in the control group were 0.0%, 38.7%, and 3.2%, respectively. The frequency of FVL mutation in patients with infertility (30.6%) or RSA (20.0%) was significantly higher than that of the control group. A significantly higher MTHFR mutation rate was also observed in patients with RSA (63.1%) as compared to controls. However, the mutation rate of MTHFR in patients with infertility (50.0%) was not statistically different from that in controls. No significant difference was observed in the frequencies of FII mutations between the patients and controls. Decreased levels of APC-R were observed in 25.0% of infertile patients and 18.9% of patients with RSA. In conclusion, our results show a skew towards higher mutation frequencies of FVL and MTHFR in patients that may necessitate detection of such mutations in these Iranian patients.     

Prediction of stapes footplate thickness based on the level of hearing loss in otosclerosis

During surgical treatment of a patient with otosclerosis, the probability of success depends in large part on the extent of the surgeon's experience. Therefore, predicting the preoperative severity of disease may help determine the choice of surgeon based on how experienced the surgeon should be. We conducted a study to evaluate the relationship between hearing thresholds and footplate thickness in otosclerosis patients who underwent stapes surgery. We used a qualitative method for measuring footplate thickness that was based on the simplicity or difficulty of opening the footplate. Our study population was divided into two groups; group 1 was made up of 66 patients whose footplates were easily opened with low pressure or with repeated motions by hand, and group 2 was made up of 14 patients whose footplate was either opened by drilling or not opened because it had been obliterated. We found that the patients in group 2, who had more severe disease, had significantly higher air- and bone-conduction thresholds than did the patients in group 1. According to our findings, otosclerotic patients with high air- and bone-conduction thresholds generally have more severe disease and thus require a more experienced surgeon.     

Association between the polymorphism of TGF-beta1 gene promoter (-509C>T) and idiopathic chronic urticaria

Idiopathic Chronic Urticaria (ICU), the most common form (70-80%) of chronic urticaria is supposed to have immune basis causes. It is speculated that the promoter polymorphism of TGF-Beta1 gene may be involved in ICU. This condition is thought to affect at least 0.1% of the population and often can be severe and difficult to treat. A total of 40 patients with ICU and 41 normal subjects were studied. DNA was extracted from whole blood and TGF-Beta1 promoter -509C>T polymorphism was determined by PCR-RFLP method. Out of the 40 patients with ICU, 11 (27.5%) had CC, 26 (65%) had CT and 3 (7.5%) had TT genotypes. A higher proportion of case subjects with the C allele (CT type or CC type) was found compared with the T allele. These results do suggest an influence of genetic variability at the promoter of TGF-Beta1 gene (-509C>T) on the occurrence of ICU. This polymorphism has been shown as a useful genetic change in our study. Further work is required to confirm this result.     

DNA banking of primary immunodeficiency disorders in iran

Primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. We constructed the DNA banking of primary immunodeficiency disorders for the first time in Iran. The DNA of 31 immunodeficient patients and their families (total of 92 samples) were collected, as the first step for construction of DNA banking. DNA was isolated from whole blood by salting out method. Among our patients, Common variable immunodeficiency was the most common disorder, followed by X-linked agammaglobulinemia, Ataxia-telangiectasia, Chronic granulomatous disease, Severe combined immunodeficiency, Hyper IgM syndromes, and Leukocyte adhesion defects. DNA banking is a useful method for further detection of mutation in immunodeficient patients and prenatal diagnosis for presence or absence of the disorder in the fetus which can be confirmed by molecular genetics testing.     

Cytotoxic prenylated acetophenone dimers from Acronychia pedunculata

Three new acetophenone dimers or Acronychia-type acetophenones, acropyrone (1), acropyranol A (2), and acropyranol B (3), were isolated from the trunk bark of Acronychia pedunculata and structurally characterized, together with four known acetophenone dimers, acrovestone (4), acrovestenol (5), acrofolione A (6), and acrofolione B (7), the acetophenone monomer acronyline (8), and four furoquinoline alkaloids. The chemical structures of the new isolated compounds were elucidated unambiguously by spectroscopic data analysis. The cytotoxic activities of the isolated acetophenone dimers were evaluated against the DU145 prostate and A2058 melanoma human cancer cell lines as well as the NHDF normal cell line. Acrovestone (4) and acrovestenol (5) exhibited substantial cytotoxicity, with IC(50) values of 0.38 and 2.8 μM against A2058 melanoma cells as well as 0.93 and 2.7 μM against DU145 prostate cancer cells, respectively.     

Effect of nutrition education and traditional game-based physical activity interventions,on lipid profile improvement in overweight and obese children in West Java Indonesia

BACKGROUND/OBJECTIVESOne ongoing effort to curtail dyslipidemia in school children is through lifestyle intervention. This study analyzes outcomes of the intervention of nutrition education and Javanese traditional game-based physical activity, on lipid profiles of overweight and obese children.SUBJECTS/METHODSThe experimental study consisted of three steps: data collection (October to December 2016), intervention processes (January to March 2017), and final report preparation (April to May 2017). This was a split-plot block study, enrolling a total of 72 subjects. Traditional game intervention (12 meetings) and nutrition education (9 meetings) was carried out within 3 months with material related to obesity.RESULTSOur results showed no decrease in the levels of total cholesterol in the group receiving nutrition education (rise by 1.56 mg/dL), but when compared to subjects without intervention, total cholesterol levels experienced was increased. The group which did not receive physical activity showed increase in the total cholesterol, whereas the traditional game intervention group showed a decrease of 0.05 mg/dL total cholesterol at the end of the intervention. Nutrition education and physical activity interventions did not influence any reduction in the low-density lipoprotein cholesterol (LDL-C) levels, but rather showed a tendency to increase at the end of the intervention. However, the increase in LDL-c levels in the traditional game group was lower than in other intervention groups. Duncan''s test indicated that the effect of nutrition education and physical activity interventions did not differ from the cut-off values of LDL-C and high-density lipoprotein cholesterol.CONCLUSIONSTotal cholesterol and triglyceride levels in the traditional game group tended to decrease at the end of the intervention, but the results did not differ much from other intervention groups. We deduce that nutrition education and traditional game-based physical activity interventions are not capable of improving blood lipid profiles in overweight and obese children within 3 months. It is necessary to increase the time of physical activity intervention to maintain the lipid profile in another study.     

Multicentric lymphoma in a male Labrador retriever dog

Multicentric lymphoma (grade V) was diagnosed in a 7-year-old dog with listlessness, excessive panting and generalized lymphadenopathy. Hematological examination showed reduced RBC and platelet count and severe increase in leukocyte count with 90% of lymphocytes and 10% of neutrophils. Radiographic examination showed soft tissue masses (sublumbar lymph nodes) in caudal abdomen and mild liver enlargement. Prostate gland and spleen were also enlarged. There were no other abnormalities in abdominal and thoracic radiography, and metastatic mass couldn’t be found in the lungs. Histopathological examination of the right popliteal lymph node showed large neoplastic lymphoblasts, and the immunophenotype of the tumor showed B-cell origin with CD3 and CD20 expression. Treatment with systemic chemotherapy was initiated in an attempt to induce remission using cyclophosphamide, vincristine, and prednisolon (COP) in doses recommended in the literature. Currently, the patient is clinically doing very well with a good appetite, adequate weight gain, increased activity level, decreased lymph node size, and return to normal attitude.