Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review.

Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet available for the patient's usage. This scoping review assessed the current scenario and analysed the challenges in implementing gene therapies for USH. A literature search was conducted using PubMed and Google Scholar through an artificial intelligence (AI) tool, MaiA, focusing on relevant publications from the last 10 years.

The Gut Microbiota: a Novel Player in the Pathogenesis of Uterine Fibroids.

Uterine fibroid is a common gynecological disorder that affects women of reproductive age and has emerged as a major public health concern. The symptoms have a negative influence on both their physical health and quality of life. The cost of treatment has a significant impact on the disease's burden.

Single institute experiences in anterior and posterior component separation technique for the large ventral hernia: A retrospective review.

Background: Component separation techniques have recently gained popularity for the repair of complex ventral hernias. Anterior and posterior component separation techniques offer similar myofascial medialization, with a differing complication profile. The aim of this study is to compare the efficacy, patient morbidity and post-operative complications between anterior component separation (ACST) and transversus abdominis release (TAR) for large ventral hernias.

Pregnancy associated plasma protein A: An indicator of adverse obstetric outcomes in a South India population.

Objective: First trimester aneuploidy screening (FTAS) has become an integral part of antenatal care in most of centers in India. The serum markers used for FTAS are pregnancy-associated plasma protein A (PAPP-A) and beta human chorionic gonadotropin. In the present study, we aimed to assess the role of PAPP-A in specific adverse fetal maternal events.

IOTA Simple Ultrasound Rules for Triage of Adnexal Mass: Experience from South India.

Objective: To assess the diagnostic performance of International Ovarian Tumor Analysis (IOTA) simple ultrasound rules to discriminate adnexal masses as benign or malignant.

Methods: A cross-sectional prospective study was conducted on women scheduled for elective surgery due to adnexal masses. Ultrasound examiner systematically assessed the tumors according to the IOTA simple rules to determine the risk of the tumor being malignant.

MiR-211 is essential for adult cone photoreceptor maintenance and visual function.

MicroRNAs (miRNAs) are key post-transcriptional regulators of gene expression that play an important role in the control of fundamental biological processes in both physiological and pathological conditions. Their function in retinal cells is just beginning to be elucidated, and a few have been found to play a role in photoreceptor maintenance and function. MiR-211 is one of the most abundant miRNAs in the developing and adult eye.

Risk Assessment at 11-14-Week Antenatal Visit: A Tertiary Referral Center Experience from South India.

Background: Present study carried out in a tertiary referral hospital in South India attempts to determine the predictive value of integrated screening at 11-14-week antenatal visit.

Objectives: To determine the detection rate of fetal abnormalities at 11-14 weeks and also to predict the placental dysfunction disorders based on early integrated evaluation.

Method: Integrated screening performed on 440 women between 11 and 14 weeks, including detailed maternal history [medical history, bad obstetric history (BOH)], body mass index (BMI), mean arterial pressure (MAP), detailed ultrasound and maternal serum biochemistry as part of combined first-trimester screening for aneuploidy.

Machine learning and docking models for Mycobacterium tuberculosis topoisomerase I.

There is a shortage of compounds that are directed towards new targets apart from those targeted by the FDA approved drugs used against Mycobacterium tuberculosis. Topoisomerase I (Mttopo I) is an essential mycobacterial enzyme and a promising target in this regard. However, it suffers from a shortage of known inhibitors.

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.

Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness. Characterized by extreme genetic and clinical heterogeneity, the separate groups share many common genetic causes, in particular relating to pathways controlling retinal and retinal pigment epithelial maintenance. To understand these shared pathways and delineate the overlap between these groups, we investigated the genetic cause of an autosomal dominantly inherited condition of retinal dystrophy and bilateral coloboma, present in varying degrees in a large, five-generation family.

Alpha-foetoprotein in the diagnosis of prelabour rupture of membranes.

Content: Prelabour rupture of membranes (PROM) complicates overall 10% of gestations which include 7% at term and 3 % preterm gestations. Making an early and accurate diagnosis of PROM is important, to allow gestational age specific obstetric interventions and to optimize perinatal outcome.

Objective: To study the efficacy of alpha-foeto protein in cervicovaginal secretions, to diagnose prelabour rupture of membranes.

Targeting Mycobacterium tuberculosis topoisomerase I by small-molecule inhibitors.

We describe inhibition of Mycobacterium tuberculosis topoisomerase I (MttopoI), an essential mycobacterial enzyme, by two related compounds, imipramine and norclomipramine, of which imipramine is clinically used as an antidepressant. These molecules showed growth inhibition of both Mycobacterium smegmatis and M. tuberculosis cells.

Laparoscopic cystectomy of endometrioma: Good surgical technique does not adversely affect ovarian reserve.

Background: The damage to ovarian reserve inflicted by surgery for endometriosis represents a major concern in the balance between reproductive benefits and risks.

Aim: To evaluate the ovarian reserve in sub fertile women after laparoscopic endometriotic cystectomy.

Settings And Design: Prospective study, done in Department of Obstetrics and Gynecology, tertiary care hospital between August 2010-2012.

Correlation of fetal abdominal subcutaneous tissue thickness by ultrasound to predict birth weight.

Introduction: Fetal growth abnormality is associated with changes in the soft tissue mass, which is decreased in growth restricted fetuses and increased in macrosomia.

Objective: To correlate fetal abdominal subcutaneous tissue thickness (FASTT) measured by ultrasound at term and birth weight and to obtain a cut-off value of FASTT to predict large and small for gestational age babies in our population.

Methods: FASTT was measured at the anterior 1/3(rd) of abdominal circumference by ultrasound after 36 weeks and weight of the baby measured after birth.

Inhibition of Mycobacterium tuberculosis topoisomerase I by m-AMSA, a eukaryotic type II topoisomerase poison.

m-AMSA, an established inhibitor of eukaryotic type II topoisomerases, exerts its cidal effect by binding to the enzyme-DNA complex thus inhibiting the DNA religation step. The molecule and its analogues have been successfully used as chemotherapeutic agents against different forms of cancer. After virtual screening using a homology model of the Mycobacterium tuberculosis topoisomerase I, we identified m-AMSA as a high scoring hit.

Is there a Need for Luteinizing Hormone (LH) Estimation in Patients Undergoing Ovarian Stimulation with Gonadotropin-Releasing Hormone (GnRH) Antagonists and Recombinant Follicle-Stimulating Hormone (rFSH)?

Aim: To find out effect of serum luteinizing hormone (LH) levels on Day 1 (Day 2 of cycle) and Day 5 of stimulation and Day of trigger hCG in controlled ovulation stimulation with antagonist protocol of IVF-ICSI cycle on cycle outcome.

Materials And Methods: This retrospective study was conducted in a University Hospital setting. One hundred and 62 patients underwent 165 cycles of controlled ovarian stimulation (COS) with recombinant Follicle stimulating hormone (rFSH) and Gonadotropin releasing hormone (GnRH) antagonist protocol in one year were included.

An audit of indications, complications, and justification of hysterectomies at a teaching hospital in India.

Objective. Aim of this audit was to analyze indications, complications, and correlation of preoperative diagnosis with final histopathology report of all hysterectomies, performed in a premier teaching hospital. Methods.

Influence of endomeriotic cyst diameter and the severity of endometriosis on the ovarian parenchyma excised during laparoscopic cystectomy.

Introduction: Endometrioma is a common form of endometriosis and it is represented by endometriotic deposits within the ovaries which accounts for upto 17-44% of cases. Laparoscopic stripping of ovarian endometriotic cysts is an accepted technique owing to low recurrence rates. Decrease in residual ovarian tissue volume was noted in many studies followed cystectomy.

Tubercular Ascites Simulating Ovarian Hyperstimulation Syndrome following In Vitro Fertilization and Embryo Transfer Pregnancy.

Ovarian hyperstimulation syndrome (OHSS) is a known complication of using ovulation induction drugs in assisted reproductive techniques. Its incidence and severity vary. Tuberculosis is a very common disease in the developing world, and ascites is one of its sequelae.

Type IA topoisomerase inhibition by clamp closure.

Bacterial DNA topoisomerase I (topoI) catalyzes relaxation of negatively supercoiled DNA. The enzyme alters DNA topology through protein-operated DNA gate, switching between open and closed conformations during its reaction. We describe the mechanism of inhibition of Mycobacterium smegmatis and Mycobacterium tuberculosis topoI by monoclonal antibodies (mAbs) that bind with high affinity and inhibit at 10-50 nM concentration.

Infection and acute respiratory distress syndrome during pregnancy: a case series of preventable maternal deaths from southern India.

Introduction: Acute respiratory distress syndrome (ARDS) is common among women admitted to obstetric intensive care units, and it contributes significantly, both directly and indirectly, to maternal deaths.

Case Series: We present a case series of ARDS in pregnant women caused by non-obstetric causes. The women were treated at a tertiary hospital in southern India.

Prevalence of menopausal symptoms and quality of life after menopause in women from South India.

Objectives: This study was carried out to establish the age at onset of menopause and the prevalence of menopause and menopausal symptoms in South Indian women.

Materials And Methods: Three hundred and fifty-two postmenopausal women attending the outpatient clinics of obstetrics and gynaecology department of Dr TMA Pai Hospital, a tertiary care Hospital in South India, were included in the study. The Menopause-Specific Quality of Life (MENQOL) questionnaire was used in the study.