Prenatal diagnosis of Bardet Biedl Syndrome: A case report.

The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in absence of family history or consanguinity. The major features of this syndrome are cone-rod dystrophy, obesity, polydactyly, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay and ataxia. At least 20 BBS genes have been identified and all are involved in primary cilia functioning. Genetic diagnosis includes multigene sequencing technologies. Clinical management includes symptomatic treatment. In our case report, we present a case of a baby born to parents of Bengali Asian ancestry with high clinical suspicion of BBS based on fetal magnetic resonance imaging findings done during antepartum surveillance.

Ovarian Vein Thrombosis in a Non-Puerperal Patient.

Ovarian vein thrombosis (OVT) is a relatively rare, but serious disease more commonly seen in puerperal patients. In the postpartum period, there is an unequal incidence of OVT in women with vaginal delivery (0.18%) and caesarean section (2.0%). OVT is usually associated with other conditions like pelvic inflammatory disease, malignant tumours, sepsis, enteritis, and recent pelvic or abdominal surgery. The incidence of idiopathic OVT is extremely rare and only a few cases have been reported to date in healthy patients with unknown aetiology. Patients with OVT present with abdominal pain, nausea, vomiting, fever or abdominal mass. Complications of OVT include pulmonary embolism, ovarian infarction, sepsis and death. CT scanning of the abdomen provides reliable evidence for the diagnosis of idiopathic OVT. Thrombus in most patients with idiopathic OVT is located in the right ovarian vein. This may be due to the longer length of the right ovarian vein, right shift of the uterus and relative insufficiency of the right ovarian vein valve. Treatment of OVT includes systemic anticoagulation which will achieve resolution of symptoms and prevent life-threatening complications. Our case report documents a non-puerperal patient who underwent hysterectomy a year before presenting to the ED with complaints of diarrhoea and found to have OVT on a CT scan. Our case brings attention to the fact that OVT can occur outside the puerperium and might present as a rare complication of minimally invasive surgeries for endometrial cancer. Furthermore, we posit that OVT in the non-puerperal patient may be a separate clinical entity. LEARNING POINTS: Ovarian vein thrombosis (OVT) can occur outside the puerperium and might present as a rare complication of minimally invasive surgeries.OVT should be included in the differential diagnosis of a non-puerperal postoperative woman presenting with vague abdominal symptoms.Duration of anti-coagulation varies from case to case. More research is needed to determine its exact duration.

Risk of Contamination of Voided Urine Specimen in Women With Pelvic Organ Prolapse.

OBJECTIVES: The primary aim of this study was to determine if urine cultures are more likely to be contaminated in women with pelvic organ prolapse (POP). The secondary aim was to evaluate the test characteristics of a urine dipstick in women with POP. METHODS: A retrospective cohort study was conducted of women who presented to the urogynecology clinic between September 1, 2017, and August 31, 2018. Associations between the presence of POP and contaminated urine culture results were estimated using univariable and multivariable analyses. The sensitivity and specificity of a urine dipstick in women with POP were calculated. RESULTS: We included 351 women (143 with and 208 without POP). Women with POP were older (65.4 ± 15.8 vs 60.7 ± 11.0 years, P < 0.01), had a lower body mass index (26.6 ± 4.8 vs 29.2 ± 7.7 kg/m, P < 0.01), and were less likely to have recurrent urinary tract infections (3.5% vs 9.6%, P=0.03). Women with POP were more likely to have a contaminated urine culture than women without POP (55.9% vs 40.9%, P < 0.01). Rates of contaminated urine culture were higher in women with stage 3 and 4 prolapse than in women with stage 2 prolapse (59.6% vs 41.0%, P < 0.01). On multivariate analysis, the odds of contaminated urine culture remained higher in women with POP (odds ratio, 1.89; 95% confidence interval, 1.20-2.99). In women with POP, the sensitivity (23.5%) and positive predictive value (66.7%) of a urine dipstick were poor. CONCLUSIONS: Women with POP are more likely to provide a contaminated urine culture when collecting a midstream urine specimen.

Efficacy and Satisfaction Rate in Postpartum Intrauterine Contraceptive Device Insertion: A Prospective Study.

Background Postpartum intrauterine contraceptive device (PPIUCD) reduces the rate of abortions and it is a cost-effective, reversible, and convenient choice of contraception. The objective of our study was to evaluate the efficacy and satisfaction rate in women with postpartum intrauterine contraceptive device insertion. Methods This prospective study of immediate PPIUCD insertion was conducted at our institute from March 2016 to February 2019. Approval from the Institutional Review Board (IRB) was taken before starting the study. A total of 372 women were enrolled in the study after taking informed consent. All the women were counseled regarding different methods of contraception and birth control during antenatal checkups, early labor and immediately postpartum (within 48 hours). All the enrolled women in the study were followed for three years to determine the satisfaction and success rate of PPIUCD continuation. We also kept the record of women who discontinued PPIUCD.  Results After the exclusion criteria, 372 women were recruited in the study. The mean gestation age at the time of delivery was 38.5 weeks with a standard deviation (SD) of 1.45. All the women were followed for short-term and long-term complications and satisfaction rates. Out of 372, 51.07% of women (n = 190) had a spontaneous vaginal delivery, and 48.9% of women (n = 182) had a cesarean section but there was no significant long-term satisfaction outcome difference in both the groups. The highest success rate of the postpartum long-acting intrauterine contraceptive device was noted in patients who were counseled thoroughly in the antenatal and intrapartum period 61.5% as compared to those patients who were counseled either antenatally 42.2 %, intrapartum 35.4%, or immediate postpartum 22.4% alone. Conclusion PPIUCD insertion is an opportunity not to be missed. It allows women to obtain safe, long-acting, highly effective contraception while already within the medical system. More research data are needed in the literature with regard to counseling timings for PPIUCD insertion during the antenatal and postnatal period as it can affect the decision of women to prevent unplanned pregnancy. PPIUCD has one of the highest patient satisfaction rates among all the contraceptives.

Role of Poly Adenosine Diphosphate Ribose Polymerase Inhibitors in Advanced Stage Ovarian Cancer.

Ovarian cancer is one of the leading causes of death from gynecologic cancers. In this present era of cancer treatment, therapeutic options for patients with advanced or recurrent ovarian cancer are limited. The present standard of care treatment for advanced ovarian cancer is a platinum-based doublet chemotherapy (paclitaxel and carboplatin with or without bevacizumab) after a maximum attempt of surgical cytoreduction. However, there are no promising options for the management of patients with ovarian cancer refractory to the platinum-based chemotherapy. Therefore, newer, safe, and more effective treatment modalities are required for patients with advanced or recurrent ovarian cancer. Poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitors have shown an impressive safety profile and anti-tumor efficacy in patients with breast cancer 1 and 2 (BRCA1 and BRCA2) gene-mutated ovarian cancer who were previously treated with the standard of care chemotherapy. We have done a detailed review of the literature to emphasize the role of PARP inhibitors in the treatment of advanced or relapsed ovarian cancer.

Role of Immune Checkpoint Inhibitors in Advanced or Recurrent Endometrial Cancer.

Currently, treatment options for patients with advanced or recurrent endometrial cancer remain limited. The current standard of care treatment for advanced endometrial carcinoma is a platinum doublet chemotherapy. Second-line treatment options overall are very limited. There is no optimal treatment option for patients who show disease progression with first-line therapy. Therefore, novel and more efficacious therapies for patients with advanced or recurrent disease are needed. Immune checkpoint inhibitors have demonstrated a very impressive safety profile and anti-tumor activity in patients with programmed death-ligand 1 (PD-L1) positive endometrial cancer who were pre-treated with chemotherapy. We have done a detailed review of the literature to emphasize the role of immune checkpoint inhibitors in the treatment of metastatic or recurrent endometrial cancer.

Challenges and prospects of chimeric antigen receptor T cell therapy in solid tumors.

Chimeric antigen receptor (CAR) T cell therapy is a novel and innovative immunotherapy. CAR-T cells are genetically engineered T cells, carrying MHC independent specific antigen receptor and co-stimulatory molecule which can activate an immune response to a cancer specific antigen. This therapy showed great results in hematological malignancies but were unable to prove their worth in solid tumors. Likely reasons for their failure are lack of antigens, poor trafficking, and hostile tumor microenvironment. Excessive amount of research is going on to improve the efficacy of CAR T cell therapy in solid tumors. In this article, we will discuss the challenges faced in improving the outcome of CAR T cell therapy in solid tumors and various strategies adopted to curb them.

Chimeric antigen receptor T cell therapy in pancreatic cancer: from research to practice.

Chimeric antigen receptor (CAR) T cell therapy is genetically engineered tumor antigen-specific anticancer immunotherapy, which after showing great success in hematological malignancies is currently being tried in advanced solid tumors like pancreatic cancer. Immunosuppressive tumor microenvironment and dense fibrous stroma are some of the limitation in the success of this novel therapy. However, genetic modifications and combination therapy is the topic of the research to improve its efficacy. In this article, we summarize the current state of knowledge, limitations, and future prospects for CAR T cell therapy in pancreatic cancer.

Metastatic Sternal Osteosarcoma: A Rare Tumor.

Osteosarcoma is the most common primary malignant tumor of the long bones. However, primary osteosarcoma of the chest wall, particularly the sternum, is an extremely rare occurrence. We report a 36-year-old male presenting with a hard, immobile, palpable, anterior chest wall mass. A computed tomographic (CT) scan showed a large destructive anterior mediastinal mass involving the manubrium and sternum with multiple bilateral calcified lung masses, pleural effusions and partially calcified aortopulmonary, right hilar and subcarinal lymphadenopathy. Incisional biopsy of the mass revealed grade 2 chondroblastic osteosarcoma. The patient underwent one cycle of chemotherapy with ifosfamide and palliative radiation. Unfortunately, the patient was unable to tolerate ifosfamide and developed severe nausea and vomiting requiring the discontinuation of chemotherapy. Given his metastatic disease and inability to tolerate standard chemotherapy, he was referred to a comprehensive cancer center for advanced clinical trials.

Prospects of chimeric antigen receptor T cell therapy in ovarian cancer.

Despite advances in various chemotherapy regimens, current therapeutic options are limited for ovarian cancer patients. Immunotherapy provides a promising and novel treatment option for ovarian cancer. Recently, chimeric antigen receptor (CAR) T cell therapy has shown promising results in hematological tumors and current research is going on in various solid tumors like ovarian cancer. CAR T cells are genetically engineered T cells with major histocompatibility complex-independent, tumor-specific, immune-mediated cytolytic actions against cancer cells. Initial studies of CAR T cell therapy have shown promising results in ovarian cancer, but there are some obstacles like impaired T cell trafficking, lack of antigenic targets, cytokine release syndrome and most important immunosuppressive tumor microenvironment. Optimization of design, improving tumor microenvironment and combinations with other therapies may help us in improving CAR T cell efficacy. In this review article, we highlight the current knowledge regarding CAR T cell therapy in ovarian cancer. We have discussed basic functioning of CAR T cells, their rationale and clinical outcome in ovarian cancer with limitations.