Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.

Purpose Turner syndrome is a sex chromosomal aberration where majority of the patients have 45,X karyotype, while several patients are mosaic involving 45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is considered to be the "gold standard" to detect numerical and structural chromosomal abnormalities. In the recent years, alternative approaches, such as array comparative genomic hybridization (aCGH), have been widely used in genetic analysis to detect numerical abnormalities as well as unbalanced structural rearrangements. In this study, we report the use of karyotyping as well as aCGH in detecting a possible Turner syndrome variant. Methods An apparent 16-year-old female was clinically diagnosed as Turner syndrome with premature ovarian failure and short stature. The genetic diagnosis was performed for the patient and the parents by karyotyping analysis. aCGH was also performed for the patient. Main Findings Cytogenetic analysis of the patient was performed showing variant Turner syndrome (46,X,i(X)(q10)[26]/46,X,del(X)(q11.2)[11]/45,X[8]/46,XX[5]). The patient's aCGH result revealed that she has a deletion of 57,252kb of Xp22.33-p11.21 region; arr[GRCh37] Xp22.33-p11.21 (310,932-57,563-078)X1. Both aCGH and fluorescence in situ hybridization (FISH) results suggested that short stature Homeobox-containing ( SHOX ) gene, which is located on Xp22.33, was deleted, though FISH result indicated that this was in a mosaic pattern. Conclusion In the recent years, aCGH has become the preferred method in detecting numerical abnormalities and unbalanced chromosomal rearrangements. However, its use is hindered by its failure of detecting mosaicism, especially low-level partial mosaicism. Therefore, although the resolution of the aCGH is higher, the cytogenetic investigation is still the first in line to detect mosaicism.

Extra-abdominal removal of placenta during cesarean section: a prospective randomized controlled trial of a novel technique.

AIM: To evaluate intraoperative and early postoperative outcomes of a novel placenta delivery technique; extra-abdominal removal vs. intra-abdominal removal of the placenta during cesarean section (CS). METHODS: A total of 210 women delivering by CS at term in a tertiary university hospital between March 2014 and January 2015 were randomized to extra-abdominal removal vs. intra-abdominal removal of the placenta. The women were randomly allocated to the extra- (group 1) or intra-abdominal removal group (group 2) according to random sampling method, where women with even and odd numbers were allocated to intra- and extra-abdominal groups, respectively. The amount of intra-abdominal hemorrhagic fluid accumulation, the duration of operation and estimated blood loss during operation were the primary outcomes. The secondary outcomes included the mean difference between pre- and post-operative hemoglobin and hematocrit levels, the mean postoperative pain score, any additional need of analgesia, postoperative bowel function, postoperative endometritis and wound infections. RESULTS: The amount of aspirated hemorrhagic fluid was significantly higher in the intra-abdominal group compared to the extra-abdominal group (34.6±22.2 mL vs. 9.4±4.8 mL, P<0.001). Mean duration of the operation, intraoperative blood loss, postoperative requirement of additional analgesia, postoperative pain scores, postoperative endometritis or wound infection, and length of hospital stay were not significantly different between the intra- and extra-abdominal placental removal groups. CONCLUSION: By extra-abdominal removal of the placenta, the accumulation of bloody fluid in the abdominal cavity is significantly less compared to the intra-abdominal removal method, which, in turn, provides avoidance of excessive mounted-gauze use, intra-abdominal manipulations, or iatrogenic trauma.

Coexisting anal human papilloma virus infection in heterosexual women with cervical HPV infection.

AIM: To evaluate the prevalence of coexisting anal human papillomavirus (HPV) infection and concordance of HPV types in women with cervical HPV infection and to investigate the possible predictors for anal HPV infection. METHODS: Study group was composed of women referred with documented cervical HPV infection. All patients had undergone anal HPV DNA testing. RESULTS: One hundred and six patients presenting with cervical HPV infection were eligible for the study. Overall, 24 and 20 distinct HPV genotypes were detected from cervical and anal specimens, respectively. We observed a considerably high prevalence (51.9 %) of coexisting anal HPV infection in our study group. A majority of the women who were found to have anal HPV infection were infected with oncogenic or probable oncogenic types (64.6 %). There were 20.0 and 58.3 % rate of total and partial concordance between the two sites, respectively. We found that no demographic parameter but history of anal intercourse was related with the risk of anal HPV infection. CONCLUSION(S): Women with cervical HPV infection have a considerable risk for coexisting anal HPV infection. Concordance of HPV types infecting the cervix and anal canal is relatively high. There is no strong predictor for anal HPV infection in this population.

Effects of low molecular weight heparins and unfractionated heparin on viability of human umbilical vein endothelial cells.

AIM: The aim of this study was to investigate the effects of bemiparin, nadroparin, enoxaparin, and heparin on viability of human umbilical vein endothelial cells (HUVEC). METHODS: Cultivation of HUVEC was performed in an incubator having 5 % CO(2) at 37 °C and with predefined supplemented medium, until cell monolayers attained confluence which occurred after 7 days. The assays were performed in the exponential growth phase of the cells. The cell viability was assessed using the cleavage of tetrazolium salts added to the culture medium. Heparin sodium, enoxaparin sodium, bemiparin sodium, and nadroparin calcium with concentrations of 100, 10, and 1 IU/100 µL were used for the proliferation assay in which cells were incubated for 24, 48, and 72 h with these drugs. The experiments were conducted in four replicates. RESULTS: Among the study drugs with maximal concentration used in the experiments (100 IU/100 µL), heparin was found to be associated with the lowest viability score in 24 and 48 h, while bemiparin showed the lowest at 72 h. Bemiparin 100 IU/100 µL was significantly associated with lower viability score than that of bemiparin 10 IU/100 µL and bemiparin 1 IU/100 µL at every time interval. Among gradual concentrations of enoxaparin, however, concentration of 1 IU/100 µL was associated with the lowest viability scores at every time point. Heparin 1 IU/100 µL, nadroparin 100 IU/100 µL, and enoxaparin 100 IU/100 µL groups had the highest viability score after 72 h of incubation. CONCLUSION(S): Among low molecular weight heparins (LMWHs), 100 IU/100 µL concentration of bemiparin was associated with a more pronounced effect on reducing viability of HUVEC after 72 h of incubation, while nadroparin 100 IU/100 µL and enoxaparin 100 IU/100 µL showed the least effects. LMWHs differ both from each other and heparin with respect to their effects on cellular viability of HUVEC in dose- and time-dependent manner.

Association of speculum lubrication with pain and Papanicolaou test accuracy.

PURPOSE: To determine the effects of lubrication of the vaginal speculum before insertion during a Papanicolaou test on perceived pain and quality of the cytology specimen. METHODS: Four hundred eligible women participating in cervical cancer screening and an early detection program were randomized with respect to lubricant gel use before speculum insertion. Perceived pain during speculum insertion and cytology results were assessed in study groups. RESULTS: The mean age of the patients was 45.7 years (range, 23-77 years). Pain score of the NO GEL group was significantly higher than that of the GEL group (2.3 and 1.6, respectively; P < .05). For premenopausal women, lubricant gel use significantly reduced the pain scores of the participants (P < .05). Cytological interpretations of the Papanicolaou test specimens were comparable among all groups. CONCLUSIONS: During the collection of Papanicolaou test specimens, lubrication of the vaginal speculum with a small amount of K-Y Jelly (a water-soluble lubricant gel) decreases the pain associated with insertion of the vaginal speculum among postmenopausal women without obscuring the cytological interpretation of conventional or liquid-based cytology. In women of reproductive age, lubrication of the speculum with K-Y Jelly does not cause a meaningful effect with respect to perceived pain.

Gastrointestinal stromal tumor mimicking gynecological mass: A case report.

► GISTs do not have a unique appearance on ultrasound examination. ► If a pelvic mass is detected, the possibility of a non-gynecological tumor like GISTs has to be considered.