Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings.

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM_ 001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I.

Interobserver variability and positive predictive value for ultrasonographic BI-RADS categories requiring pathohistological evaluation.

OBJECTIVE: The objective of this study was an analysis of interobserver variability and positive predictive value (PPV) for BI-RADS categories requiring pathohistological evaluation: 4A, 4B, 4C, and 5. MATERIAL AND METHODS: Interobserver variability for each of descriptors as well as PPV for final BI-RADS categories requiring pathohistological evaluation was measured in a retrospective study which included 30 ultrasonographic reports, with pathohistological verification, randomly selected from ultrasonographic reports from Institute for Oncology and Radiology of Serbia where about 1,100 breast cancers are verified every year. Ten observers, seven gynecologists, and three radiologists, independently rated each ultrasonographic report according to the fourth edition of BI-RADS atlas. Interobserver variability was measured with k coefficient. RESULTS: There was most conformity for a category of orientation (k = 0.79). Substantial degree of conformity was also present for both boundary (k = 0.71) and shape (k = 0.65) categories. Moderate degree of conformity was achieved for posterior features (k = 0.54) and margins (k = 0.41) descriptors, while there was poor conformity in echogenicity (k = 0.38). In case of a final score, common conformity for all BI-RADS 4A, 4B, 4C, and 5 categories was (k = 0.51); it was the greatest for category 5 (k = 0.50), and it was less for categories 4C (k = 0.37), 4B (k = 0.32), and 4A (k = 0.29). CONCLUSIONS: Interobserver conformity for ultrasonographic descriptors and final evaluation of BI-RADS 4A, 4B, 4C, and 5 categories is good. PPV implies that not only division into categories 4 and 5, but also classification into categories 4 and subcategories 4A, 4B, and 4C are justified and clinically applicable.

Predictive value of transvaginal ultrasound score for detection of endometrial malignancy.

PURPOSE: The aim of this study was to assess the accuracy of transvaginal ultrasound in detecting endometrial malignancy in peri-menopausal women. MATERIAL AND METHODS: The cross-sectional study included 100 perimenopausal women who had changes on the endometrium discovered through a regular ultrasound check-up and were referred to Clinic of Gynecology and Obstetrics "Narodni Front" in Belgrade during the period from September 1, 2012 to September 1, 2013. Transvaginal ultrasound was performed on each participant in the study. Parameters of the ultrasound examination composed a score system. RESULT: The results of regression analysis showed that this transvaginal ultrasound score have independent prognostic value for detection of endometrial malignancy. Score system showed that the value 8 had the best validity for the detection of endometrial malignity, with the sensitivity of 0.857 ind specificity of 0.785. CONCLUSION: The collected transvaginal ultrasound sample had high predictive value for the discovery of malign changes on endometrium.

Carcinosarcoma of the uterus in advanced stage: a case report.

This is the case of an advanced stage carcinosarcoma uteri, in a patient with limited therapy options. Carcinosarcomas (malignant mixed Müllerian tumors) are histologically composed of malignant epithelial and mesenchymal components. Sarcomatous component of this mixed tumor in the present patient was of heterologous-type chondrosarcoma. The primary treatment option for uterine carcinosarcomas is surgery, but adjuvant therapy is always necessary. The optimal treatment is still uncertain, as the histogenesis of this tumor remains controversial.

Simultaneous dermoid cyst and endometriosis in the same ovary: a case report.

The authors present a case of a 33-year-old infertile woman with coincidental dermoid cyst and ovarian endometriosis in the same ovary. She was admitted to the Clinic because of cystic tumor of the left adnexa. Transvaginal ultrasound (TVUS) examination found a bilocular tumor of complex structure on the left ovary. Video-laparoscopy was also performed. On the left ovary, two adjacent cystic formations were found. Laparoscopic ovarian cystectomy was performed and a surgical specimen was sent for histopathologic analysis. The diagnosis was a dermoid cyst and ovarian endometriosis. Without complications, the patient was released from the hospital. The patient was treated with an analogue of gonadotropin releasing hormone (GnRH) for three months as a preparation for in vitro fertilization (IVF).

Giant omphalocele-prenatal diagnostics, pregnancy evaluation and postnatal treatment.

This study describes prenatal diagnostics of fetal omphalocele by ultrasonographic examination, planned childbirth by cesarean section and surgical correction of the anomaly in an older primipara who became pregnant through a spontaneous menstrual cycle after a five-year long medical examination and treatment of infertility. Pregnancy was carried out to full term. Planned cesarean section performed at 40 weeks of pregnancy gave birth to an infant with a giant omphalocele 8-9 cm in size with an abdominal wall defect approximately 5 cm in size. The same day the newborn was subjected to surgery during which the hernial sac containing intestine was repositioned inside the child's abdomen and a paraumbilical defect in the abdominal wall was sutured. The newborn spent seven days in the intensive care unit on assisted ventilation in order to maintain a constant level of intraabdominal pressure. The postoperative period was complication-free. The infant was released from the hospital after 14 days completely adapted and ready for breastfeeding. The rest of the neonatal period remained without complications.

Cervical conization--treatment for cervical intraepithelial neoplasia and carcinoma in situ.

PURPOSE: Cone biopsy is the best treatment for high-grade premalignant cervical changes. Cervical intraepithelial changes do not show any clinical picture until the process develops into carcinoma. METHOD: This retrospective study included 395 women who underwent conization at Gynecology and Obstetrics Clinic "Narodni front" during 2009. The chi-square test was used for comparing results. RESULTS: Pathohistological findings from biospy and conization were identical in 40.50% of patients, in 10.13%, the conization finding was more severe than the biopsy finding, while in 49.37% less severe than the biopsy finding. Resection margins status analysis showed that 12.66% of cones were positive. Comparison between cones with positive margins and operative techniques did not show any statistically significant difference; 64% of women with positive margins were over the age of 35. CONCLUSION: Operative conization techniques are equally represented. However in women over the age of 40 scalpel excision methods are recommended. In women over the age of 45 there is a statistically significant increase in the risk for positive resection margin with CIN3 and glandular lesions.

Pregnancy following conservative surgical treatment of the malignant mixed germ-cell tumor of the ovary--case report.

We present a case of pregnancy after complete conservative surgical treatment in a young woman with malignant mixed germ-cell tumor of the ovary. She was submitted to surgical treatment involving only unilateral salpingo-oophorectomy, with infracolic omentectomy and dissection of the pelvic and paraaortal lymph nodes. Three years after the operation and chemotherapy the patient spontaneously conceived and gave birth to a healthy baby. A patient who has malignant germ-cell tumor of the ovary in early stage, can successfully preserve fertility by conservative surgical treatment.

Systemic chemotherapy--before or after radical surgery in treatment of patients with advanced ovarian carcinoma?

PURPOSE OF INVESTIGATION: The aim of the study was to analyze whether application of systemic chemotherapy prior to radical surgery in patients with advanced ovarian carcinoma influences the length of the progression-free period and overall survival rate. METHODS: This study analyzes two groups of patients in the period 2006-2009. The first group received systemic chemotherapy prior to radical surgery. The second group first had radical surgery after which systemic chemotherapy was administered. The therapeutic response to systemic chemotherapy was analyzed as well as progression-free survival and overall survival which was calculated according to the Kaplan-Meier method and compared using the log rank test. RESULTS: Statistical analysis showed that patients who were administered systemic chemotherapy prior to radical surgery have significantly better progression-free survival as well as overall survival. Progression-free survival in patients who were first treated with systemic chemotherapy after which radical surgery followed was equal to 28 months and was significantly longer (p = 0.001) than progression-free survival in patients who were first subjected to radical surgery; it equaled 13 months, while the overall survival equaled 43 and 36 months, respectively. CONCLUSION: Application of systemic chemotherapy prior to radical surgery has a significant influence on the length of the progression-free period and on the length of overall survival of patients affected by advanced ovarian cancer.

Ovarian carcinoma patients--life quality analysis in the postoperative period--how to improve it?

PURPOSE OF INVESTIGATION: The objective of this research was to analyze the quality of life of patients with advanced ovarian carcinoma in the period following radical surgery and application of chemotherapy. METHODS: A random selection method was used to choose 30 patients who had previously filled out the QLQ-C30 health questionnaire. Data obtained from questionnaires were statistically analyzed. RESULTS: The percentage of the general health scores were the highest in the bottom third of the scale, where 21.9% of the patients self-scored at 0. Financial difficulties were scored the lowest at 65.6%. The impairment of physical functioning was reported by 21.9% of patients, where the score for impact of this physical impairment was reported at 0 by 18.8%, and the impact of cognitive impairment was scored at 0 by 56.3%. Nausea, vomiting and loss of appetite were completely affecting normal daily functioning of 40.6% patients, constipation was present in 59.4% cases and diarrhea in as many as 71.9% patients; 15.6% patients reported being in continuous pain. CONCLUSION: Health questionnaires should be used because they can help identify patients prone to develop psychological problems and symptoms. Early recognition of patients prone to psychosomatic problems would allow doctors to help maintain and/or improve on patients' quality of life.