Immunological parameters in girls with Turner syndrome

Disturbances in the immune system has been described in Turner syndrome, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45, X), thyroiditis being the most common.     

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy

X-linked dilated cardiomyopathy (XLDC) is a familial heart disease presenting in young males as a rapidly progressive congestive heart failure, without clinical signs of skeletal myopathy. This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been detected. In order to identify the defect responsible for this disease at the molecular level and to understand the reasons for the selective heart involvement, a family with a severe form of XLDC was studied. In the affected members, no deletions of the dystrophin gene were observed. Analysis of the muscle promoter, first exon and intron regions revealed the presence of a single point mutation at the first exon-intron boundary, inactivating the universally conserved 5' splice site consensus sequence of the first intron. This mutation introduced a new restriction site for MseI, which cosegregates with the disease in the analyzed family. Expression of the major dystrophin mRNA isoforms (from the muscle-, brain- and Purkinje cell-promoters) was completely abolished in the myocardium, while the brain- and Purkinje cell- (but not the muscle-) isoforms were detectable in the skeletal muscle. Immunocytochemical studies with anti- dystrophin antibodies showed that the protein was reduced in quantity but normally distributed in the skeletal muscle, while it was undetectable in the cardiac muscle. These findings indicate that expression of the muscle dystrophin isoform is critical for myocardial function and suggest that selective heart involvement in dystrophin- linked dilated cardiomyopathy is related to the absence, in the heart, of a compensatory expression of dystrophin from alternative promoters.      

Pain during sexual activity and ejaculation following hernia repair: A retrospective comparison of transabdominal preperitoneal versus Lichtenstein repair

Pain during sexual activity and ejaculation are the unspoken long-term complications of groin hernia repair. Laparoscopic surgical techniques are associated with decreased post-operative pain and earlier return to daily activities, but its effect on these complications is unclear. This study aims to investigate the effect of transabdominal preperitoneal repair (TAPP) on de-novo pain during sexual intercourse and ejaculation and to compare with open repair. For this reason, two groups were determined according to the surgical technique: the Lichtenstein repair and the TAPP groups and a questionnaire was sent to the patients a minimum of 6 months following the surgery. A total of 317 patients included, as 115 in TAPP and 202 in Lichtenstein repair group. No significant difference was observed concerning pre-operative pain during sexual activity and ejaculation in both groups (p = .75, p = .56). Following the surgery, the number of patients experiencing painful sexual activity was significantly higher in the Lichtenstein repair group compared to the TAPP group (19.3% vs. 11.3%, respectively, p = .03). The post-operative painful ejaculation rate was also significantly lower for the TAPP group (p = .04). The lower rates of post-operative dysejaculation and pain during sexual activity can be achieved with the advantage of laparoscopic surgery.     

The effect of sex differences on event-related potentials in young adults.

Female/male cognitive differences have been studied for some time; however, such differences in Turkish population is unknown. Evoked potentials (EPs) of the brain have been applied as an index of information processing in a wide variety of normal and cognitive impaired subjects. Scalp event-related potentials (ERP) evoked by auditory stimuli were recorded in 20 male and 18 female neurologically and audiologically normal young Turkish subjects of 18-25 years (Av. 20.6) of age. Standard auditory "Oddball" paradigm involving simple discrimination task of concentrating on infrequent (target) stimulus and ignoring frequent (non-target) stimulus was employed. EEG activity was recorded at the Fz, Cz, Pz and Oz electrode sites of the 10-20 system using Ag/AgCl electrodes. Wave forms were collected and averaged off-line by a Pentium 100 computer, which also controlled the stimulus presentation. In general, significant main effects of gender and electrode site on evoked potential components were found. The interpeak amplitudes N1-P2 and N2-P3 were higher in the male subjects than in the female subjects at Cz. N2-P3 were higher in the male subjects than in the female subjects at Oz. The latencies of N1, P2, N2, P3 components were not different between both sex. For both sexes we found that N1-P2 amplitude was higher at Fz and Cz than Pz and Oz. N2-P3 amplitude was higher at Fz than Oz for only female subject. In male subjects, latency of N2 was longer at Fz than Oz. There were no significant differences in the latencies of N1, P2, and P3 components between electrode sites in both sexes. We suggest that ERP components could be affected by sex, electrode site, and cognitive performance.     

Reasons for not using family planning methods in Eastern Turkey.

OBJECTIVE: The reasons for not using family planning methods among women aged 15-45 years were investigated in the Eastern region of Turkey. METHODS: A total of 518 randomly selected women were interviewed with a questionnaire. Information was collected on women's fertility behavior and intentions, sources of knowledge and practice of contraception and sociodemographic characteristics. RESULTS: The rate of women who were not using any form of family planning was 45.2%. The reasons for not using any form of family planning were: not having the approval of the husband or family leaders (38%); believing that it was a sin to use a family planning method (32.5%); believing that it could cause abnormal bleeding (14.1%); believing that it could cause infertility (7.3%); believing that it could cause cancer (4.7%); and believing that it could cause pelvic pain (3.4%). CONCLUSION: Efforts should be directed towards education of family members and religious leaders to increase the usage of family planning methods.     

Estimation of the amniotic fluid volume using the Cavalieri method on ultrasound images.

OBJECTIVES: Presently, a design-based and practical method for measuring amniotic fluid volume (AFV) for routine clinical examinations has not been proposed. In this study we describe a new method, which combines the Cavalieri method with ultrasound imaging to estimate AFV. METHODS: We measured the AFVs of 14 women in the third trimester of pregnancy, and repeated our measurements three times for each woman. Parallel planimetric ultrasonographic images were obtained at every 2 cm along the longitudinal uterine axis. AFVs were calculated as the total of the multiples of the estimated cut surface areas by the section thickness. RESULTS: The mean estimated AFV was 380.5 cm3. The coefficient of error of each measurement was calculated and the mean was 0.108. The coefficient of correlation between the amniotic fluid index and our AFV estimations was 0.87. CONCLUSIONS: Design-based and efficient estimation of AFV is possible with the combination of consecutive ultrasound images and the Cavalieri method.     

Survivin and aven: two distinct antiapoptotic signals in acute leukemias.

BACKGROUND: Antiapoptotic signals are important in the development, progression and prognosis of malignant tumors. The aim of this study was to determine the two distinct antiapoptotic signals-survivin and aven-in acute leukemias and compare them with clinical and hematological findings and response to therapy. Real-time quantitative PCR was used and survivin and aven were detected at the messenger (m)RNA level. PATIENTS AND METHODS: Sixty-five patients with acute leukemia [37 with acute myeloblastic leukemia (AML) and 28 with acute lymphoblastic leukemia (ALL)] were used as the study group and 10 healthy subjects were used as the control group. RESULTS: Survivin was between 0.0 and 0.829 copy number/cell (median 0.0721, mean 0.5424301909 +/- 0.139799488589) and aven was between 0.0 and 0.853 copy number/cell (median 0.0124, mean 0.070335542 +/- 0.1524685709). We found an important association between survivin and aven (P = 0.000). Both survivin and aven were higher in the study group than in the controls (P = 0.001 and 0.035, respectively). When we compared survivin and aven with other clinical and hematological parameters, there was an important association between survivin and extramedullary involvement (P = 0.033), survivin and alkaline phosphatase (P = 0.06), white blood cell (WBC) count and lactate dehydrogenase (LDH) (P = 0.000), WBC count and uric acid (P = 0.074), hemoglobin level and LDH (P = 0.072), LDH and uric acid (P = 0.057), CD7 expression and survivin (P = 0.097), and CD34 expression and aven (P = 0.058). Response to therapy was evaluated according to the survivin and aven levels. Survivin level was lower in refractory patients as compared with complete responders (P = 0.085). Aven level was higher in patients with relapse as compared with non-relapse patients (P = 0.04). There was no important association between survivin or aven and performance status, lymphadenopathy or organomegaly. CONCLUSIONS: Both survivin and aven are important antiapoptotic signals in acute leukemias, and the association between extramedullary involvement, CD7 expression and CD34 expression, which are important poor prognostic indicators in acute leukemias, suggests that survivin and/or aven may be novel prognostic indicators in acute leukemias. Further studies with a higher number of patients will be more informative.     

Metformin versus flutamide in the treatment of metabolic consequences of non-obese young women with polycystic ovary syndrome: a randomized prospective study.

In addition to the reproductive consequences, polycystic ovary syndrome (PCOS) is characterized by a metabolic disorder in which hyperinsulinemia and insulin resistance are central features. The effects and possible benefits from insulin-sensitizing drugs are not well known, especially in non-obese women with PCOS. This study was designed to evaluate the effects of metformin and flutamide on metabolic parameters and insulin resistance in non-obese women with PCOS. Thirty non-obese women newly diagnosed with PCOS and 15 age- and weight-matched healthy volunteers as controls were included in the study. Patients were assigned randomly to receive flutamide 250 mg daily or metformin 850 mg three times daily. Glucose, insulin, insulin resistance, androgen levels and glucose and insulin responses to an oral glucose tolerance tests (OGTT) were assessed before and after a 4-week therapy period. A positive correlation was found between body mass index and insulin level in patients with PCOS and controls. Follicle stimulating hormone, luteinizing hormone, free testosterone and dehydroepiandrosterone sulfate levels decreased significantly, but insulin resistance levels were not changed after flutamide therapy. Body weight, free testosterone, insulin and insulin resistance levels decreased significantly after metformin therapy. In conclusion, metformin treatment improved insulin sensitivity and decreased androgen levels, and flutamide decreased androgen levels but failed to improve insulin sensitivity in the non-obese women with PCOS.