Detection of Gene Mutation for Patients with McCune- Albright Syndrome and Diagnosis Experience: A Report of Two Cases and Literature Review

Background: McCune-Albright Syndrome (MAS) is a rare disease characterized by a broad spectrum of syndromes, including hyperfunctioning endocrinopathies, café-au-lait leisions, and multiple bone fibrous dysplasias. The diagnosis of MAS is usually based on clinical symptoms. However, most of MAS patients may not display typical symptoms, which make the early diagnosis and treatment of MAS difficult. Cases: Patient 1, a 7-year and 4-month-old girl, developed vaginal bleeding with no apparent cause. A Café-au-lait macule patch could be seen on the right trunk. E2 was 914pmol/L. FSH <0.1IU/L, Luteinizing Hormone (LH) <0.1IU/L. Performing ultrasound, there was a cystic mass in the left accessory area with ovarian echo. There were bone abnormalities in the long bones of the extremities. Patient 2, a girl aged 4 years and 9 months, has abnormal enlarged breasts with no obvious cause. There was a cystic mass in the left accessory area with ovarian echo No apparent Café-au-lait macule hyperpigmented skin macule was seen. E2 is 800pg/ml, FSH <0.1IU/L, LH is 0.2IU/L. GNAS mutation were both positive in the cyst tissue but was negative in the peripheral blood. Conclusion: Gene sequencing is the confirmable proof in diagnosis of MAS. Negative GNAS gene mutation results in the peripheral blood and skin cannot completely rule out the possibility of MAS. Biopsy of the lesion tissues, such as ovarian tissue, may present more efficient results. New detection techniques have higher sensitivity and make molecular diagnosis more accurate.

Role of Esomeprazole in Early Preeclampsia: A Randomized Controlled Trial

Objective: To investigate the efficacy of esomeprazole in managing early preeclampsia. Methods: This randomized controlled trial was conducted at the Obstetric/Gynecology department of Suez Canal University Hospital. We included 160 women between 26-31 years of age, with a singleton pregnancy. Eighty women received esomeprazole along with expectant treatment, whereas 80 women received expectant treatment alone. They were followed up from the date of diagnosis up to four weeks after delivery. The gestational age at termination as well as any complications during the follow-up period were documented and compared between both groups. Results: The mean age of the participants was 30.64 ± 1.62. The gestation of women in the intervention group was longer than those within the control group, with a gestational age at termination of 34.53 ± 1.21 versus 32.78 ± 1.60, respectively (P<0.001). Moreover, women in the intervention group had significantly lower incidences of fits (P= 0.005), antepartum hemorrhage (P=0.005), DIC (P=0.032), and IUFD (P<0.001). Conclusions: Esomeprazole is associated with a significant prolongation of gestation in women with early preeclampsia.

Successful Management of Pseudohypoparathyroidism Type 1b in Pregnancy: A Case Report

Pseudohypoparathyroidism (PHP) refers to broad spectrum of genetic diseases characterized by peripheral resistance to Parathormone (PTH). This condition leads to hypocalcaemia, hyperphosphatemia and elevated PTH concentrations. There is scant literature on PHP in pregnancy with 9 cases published. The treatment of the disease in pregnant women is challenging and the main target is to avoid hyper/hypocalcemia to prevent maternal adverse effects and to protect fetal parathyroid glands development. We report a rare case of PHP type 1b in pregnant woman treated with a tailored therapy.

Associated Morbidity in Screened and Diagnosed Breast Cancer Patients: A Retrospective Study

Introduction: Breast Cancer (BC) screening has been associated with reduced mortality and morbidity. This study compares tumor characteristics and treatment morbidity in screened versus diagnosed women. Materials and Methods: This retrospective study, conducted between 2010 and 2013, included 666 BC screened or diagnosed patients. We compared patients and tumors characteristics and received treatments. We also analyzed the results after excluding patients at risk of BC and conducted a multivariate analysis to assess odds ratios (OR). Results: Screened women had smaller tumors (16.5 vs. 22.6 mm, p<0.001), of lower grade (p<0.001) with a lower Proliferation Index (PI) (p<0.001) than diagnosed women. Screened women were more frequently treated using conservative surgery (82.8% vs. 59.7%, p<0.001), needed less often axillary dissection (15.1% vs. 35.4%, p<0.001) and less often chemotherapy (20.8% vs. 48.3% p<0.001) than diagnosed women. In the multivariate analysis after adjustment for age and BC history, diagnosed women had increased (OR: 4.79, 95% IC: 3.19-7.18) risk to be administered chemotherapy and to undergo axillary dissection (OR: 4.18, 95% IC: 1.56-11.17) than screened women. Conclusion: Patients should be informed about the benefits in terms of morbidity that screening confers to them.

Preeclampsia Complicated with Peripartum Cardiomyopathy: A Case Report

Peripartum cardiomyopathy is a life-threatening and rare clinical syndrome requiring emergent treatment. Preeclampsia is one of the high-risk factors of peripartum cardiomyopathy. Signs of peripartum cardiomyopathy are often confused by other forms of heart failure, and delayed diagnosis will bring fatal complications to the mother and child. In this article, we report a case of a 31-year-old woman who presented as preeclampsia complicated with acute heart failure initially. According to the results of laboratory and echocardiography, we confirmed the diagnosis of perinatal cardiomyopathy. Through timely termination of pregnancy and postoperative heart failure treatment, the woman recovered well. Obstetricians often feel uncertain about how to quickly identify and diagnose peripartum cardiomyopathy, especially when combined with preeclampsia. An in-depth understanding of the different definitions and diagnostic features of these two conditions, as well as accurate characterization of the echocardiography in preeclampsia and peripartum cardiomyopathy, allows clinicians to manage these conditions appropriately.

Preeclampsia Complicated with Peripartum Cardiomyopathy: A Case Report

Peripartum cardiomyopathy is a life-threatening and rare clinical syndrome requiring emergent treatment. Preeclampsia is one of the high-risk factors of peripartum cardiomyopathy. Signs of peripartum cardiomyopathy are often confused by other forms of heart failure, and delayed diagnosis will bring fatal complications to the mother and child. In this article, we report a case of a 31-year-old woman who presented as preeclampsia complicated with acute heart failure initially. According to the results of laboratory and echocardiography, we confirmed the diagnosis of perinatal cardiomyopathy. Through timely termination of pregnancy and postoperative heart failure treatment, the woman recovered well. Obstetricians often feel uncertain about how to quickly identify and diagnose peripartum cardiomyopathy, especially when combined with preeclampsia. An in-depth understanding of the different definitions and diagnostic features of these two conditions, as well as accurate characterization of the echocardiography in preeclampsia and peripartum cardiomyopathy, allows clinicians to manage these conditions appropriately.

The Improvement of Gynecological Gasless Laparoscopic Surgery Using a Subcutaneous Abdominal Wall Lifting Method

Background: To evaluate the usefulness of gasless laparoscopic surgery using a Subcutaneous Abdominal Wall Lifting method (SAWL) for gynecological tumors. Methods: 5309 patients underwent gasless surgery with SAWL in our hospital between April 1993 and December 2015. Patient background as well as the number of annual cases, operation time, estimated blood loss, number of ports, blood transfusion, and shift to laparotomy were examined. With regards to Laparoscopic Cystectomy (LC), Laparoscopic Myomectomy (LM) and Laparoscopic Tubectomy (LT), we divided their cases into two stages-the first stage (FS) that we performed surgery with double-operated ports (1993-2005), and the second stage (SS) after a single-operated port surgery introduction (2008-2015) for comparison. Results: LC was the most frequently performed (2068 patients), followed by LM (1738 patients) and LT (510 patients). A single-operated port laparoscopic surgery, which we called a Gasless Reduced Port Surgery (GRPS), was introduced in 2005, and by 2008 it had accounted for almost 90% of gasless laparoscopic surgeries overall except for total laparoscopic hysterectomy. The mean operation time was significantly shorter in SS than FS for LC and LT, and it was no significant difference between two stages for LM. The estimated blood loss significantly decreased in SS compared to FS for LM and LT, and no significant difference for LC. The conversion rate in SS was 0.07%. Conclusion: GRPS is an operative procedure that is superior to the rate of conversion to laparotomy and is aesthetically superior in addition to having advantages of the conventional gasless method.

A Cohort Study of the Efficacy of the Dienogest and the Gonadotropin-Releasing Hormone Agonist in Women with Adenomyosis

Purpose: To study the efficacy and safety of the dienogest and the Gonadotropin-Releasing Hormone agonist (GnRH-a) in symptomatic females with uterine adenomyosis. Methods: A total of 127 patients with adenomyosis with a chief complaint of dysmenorrhea were recruited. The first group received 2mg of Dienogest (DNG) daily, whereas the second group received Goserelin Acetate (GS) (3.6mg/4 weeks) for 12 weeks. Outpatient follow-up was undertaken after 12 weeks. Results: Among 127 women, 56/63 (87.5%) patients completed the treatment in the DNG group, whereas 62/64 (96.9%) patients completed the treatment in the GS group. A significant decrease in dysmenorrhea symptoms as measured by the Visual Analog Scale (VAS) and Carcinoma Antigen125 (CA125) after 12 weeks of treatment was observed in both groups (P<0.001). The hemoglobin of anemic patients did not significantly improve after 12 weeks of treatment (P=0.21) and the uterine volume slightly increased without statistical significance (P=0.10) in the DNG group. Simultaneously, the hemoglobin of anemic patients significantly improved (P<0.001) and the uterine volume significantly decreased (P<0.001) in the GS group. Conclusions: Dienogest effectively alleviates the symptoms of dysmenorrhea in patients with adenomyosis, but it cannot improve the anemia or reduce the size of the uterus. GnRH-a is more effective in improving anemia and reducing the uterine volume in patients with adenomyosis.

A Bladder Teratoma after Oocyte Retrievals

Oocyte recovery by means of transvaginal ultrasound-guided puncture was first described in 1985, and the procedure has gained widespread popularity. The literature consistently reports that complications related to oocyte retrievals are rare. Yet this report describes a woman with a long-term complication after egg retrievals.

Knowledge, Attitude and Practice of Emergency Contraceptive among Undergraduate Female College Students: A Cross-Sectional Study

Background: Emergency contraceptive is a unique type of family planning methods, which has been available since 1970s and can prevent pregnancy, when used after unprotected sex around the time of ovulation. Objectives: The main purpose of the study was to investigate the knowledge level, attitude towards and practice of emergency contraceptive among female college students. Methods: A cross-sectional study design was used and data were collected by structured pre-tested questionnaire that 456 students were randomly selected. Logistic regression analysis was used and p <0.05 was considered statistically significant. Results: About 53.3% of the study participant’s knowledge level were good and 56.1% of them showed a positive attitude towards emergency contraceptive. Field of study, year of study and awareness were associated with the knowledge level. Age, year of study and sexual behavior were associated with attitudes towards emergency contraceptive. Attitude towards emergency contraceptive and sexual behavior were associated with the utilization of emergency contraceptive. Conclusions: The knowledge level, attitude towards and practice of emergency contraceptives were affected by age, field of study, level of study, awareness and sexual behavior.