Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations

Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence of one in every 200,000 individuals. The changes in eye morphogenesis in ARS are highly penetrant and are associated with 50% risk of development of glaucoma. Mutations in the cytochrome P4501B1 (CYP1B1) gene have been reported to be associated with primary congenital glaucoma and other forms of glaucoma and mutations in pituitary homeobox 2 (PITX2) gene have been identified in ARS in various studies. This case was negative for PITX2 mutations and compound heterozygote for CYP1B1 mutations. Clinical manifestations of this patient include bilateral elevated intraocular pressure (>40 mmHg) with increased corneal diameter (>14 mm) and corneal opacity. Patient also had iridocorneal adhesions, anteriorly displaced Schwalbe line, anterior insertion of iris, broad nasal bridge and protruding umbilicus. This is the first study from north India reporting CYP1B1 mutations in Axenfeld-Rieger syndrome with bilateral buphthalmos and early onset glaucoma. Result of this study supports the role of CYP1B1 as a causative gene in ASD disorders and its role in oculogenesis

Correlation between leukocytospermia and oxidative stress in male partners of infertile couples with leukocytospermia

Background: The last century has seen rapid advances in the diagnosis and management of male infertility but still the cause eludes us in a majority of cases. The World Health Organization (WHO) has defined leukocytospermia as >1 million WBC/mL of semen. However, the clinical significance of increased leukocyte infiltration in semen, that is, leukocytospermia, is currently a subject of controversy. Evidence from several recent studies indicates that leukocytospermia could significantly contribute to male infertility. Of the many causes of male infertility, oxidative stress has been identified as one factor that affects fertility status and thus, has been extensively studied in recent years. A study was conducted to evaluate the relationship between leukocytospermia and oxidative stress.  Methods: 88 men with leukocytospermia were included in the study. Semen parameters, no. of pus cells present and oxidative stress were noted. The correlation between leukocytospermia and ROS level was found using Pearson correlation coefficient.Results: Significant positive correlation (r = 0.882, P <0.001) was observed between leukocytospermia and oxidative stress suggesting leukocytes are the main source of Reactive Oxygen Species (ROS) in semen.  Conclusions: Significant positive correlation between oxidative stress and leukocytospermia was found in this study suggesting the need of further robust clinical trials to evaluate the role of antioxidants in improving the fertility outcome in infertile men with pyospermia

Follicular fluid oxidative stress biomarkers and ART outcomes in PCOS women undergoing in vitro fertilization: A cross-sectional study

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of anovulatory infertility. Oxidative stress (OS), which plays an important role in determining the developmental competence of an oocyte, may be involved in understanding infertility and poor outcomes cycles in PCOS women undergoing in vitro fertilization (IVF). Objective: To measure OS biomarkers in the follicular fluid of PCOS women undergoing IVF. Materials and Methods: In this cross-sectional study, 100 women with PCOS (n = 43) and tubal factor (n = 57) undergoing IVF, who were referred to a tertiary medical center between January 2016 and September 2017 were enrolled. OS markers like reactive oxygen species (ROS), total antioxidant capacity (TAC), and 8-Isoprostane (8-IP) were tested in the follicular fluid and various IVF outcomes in the form of oocytes retrieved, fertilized, cleavage rate, grading of embryos and pregnancy outcomes were compared between the two groups. Results: The results indicated that the levels of ROS, TAC, and 8-IP were higher in the PCOS group compared to the tubal group (p = 0.21, p = 0.95, and p &lt; 0.05, respectively). Biomarkers based on the number of retrieved oocytes, cleavage rate, and grades of embryos did not differ significantly in the two groups. The median ROS, TAC, and 8-IP were not significantly different in the two groups in relation to the pregnancies, although the 8-IP levels were significantly raised in the PCOS women who had a miscarriage (p = 0.02). Conclusion: This study concluded the possible role of OS in PCOS women with increased higher level of 8-IP biomarker as a potential biomarker that needs further evaluation. Key words: Oxidative stress, ART, PCOS, Infertility, 8-IP

Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution

Potential Markers for Detection and Monitoring of Ovarian Cancer

This paper reviews current screening techniques as well as novel biomarkers and their potential role in early detection of ovarian cancer. Ovarian cancer is one of the most common reproductive cancers and has the highest mortality rate amongst gynecologic cancers. Because most ovarian cancer diagnoses occur in the late stages of the disease, five-year survival rates fall below 20%. To improve survival rates and to lower mortality rates for ovarian cancer, improved detection at early stages of the disease is needed. Current screening approaches include tumor markers, ultrasound, or a combination. Efforts are underway to discover new biomarkers of ovarian cancer in order to surmount the obstacles in early-stage diagnosis. Among serum protein markers, HE4 and mesothelin can augment CA125 detection providing higher sensitivity and specificity due to the presence of these proteins in early-stage ovarian cancer. Detection testing that includes methylation of the MCJ gene and increased expression of vascular endothelial growth factor is correlated to poor prognosis and may predict patient survival outcome. Detection testing of biomarkers with long-term stability and combination panels of markers, will likely lead to effective screening strategies with high specificity and sensitivity for early detection of ovarian cancer