A Human Homozygous Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.

Disruption of meiosis and DNA repair genes is associated with female fertility disorders like premature ovarian insufficiency (POI). In this study, we identified a homozygous missense variant in the gene (c.596 A>C; p.

Bioactive profiling and evaluation of anti-proliferative and anti-cancerous properties of Shivagutika, an Indian polyherbal formulation synchronizing and approaches.

Shivagutika is a polyherbal formulation mentioned in Ayurveda, the oldest system of medicine. The aim of this study was to investigate the anti-breast cancer potential of DCM extract of Shivagutika using MCF-7, MDA-MB-231, and MDA-MB-468. Primarily, various extracts of Shivagutika were prepared and subjected to primary analysis-total protein, phenolic acid content, and flavonoid content.

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineural hearing loss in Perrault syndrome. POI is a heterogeneous disease with over 80 causative genes known so far; however, these explain only a minority of cases.

Ewing's Sarcoma of the Talus in an Adolescent Female: An Unusual Case Presentation With Review of Literature.

Ewing's sarcoma is an aggressive primary malignant bone tumor that affects long and flat bones and is commonly seen in children and adolescents. The involvement of the foot especially the talus is an extremely rare entity with less than 15 cases reported in the literature. The rarity and atypical symptoms often lead to delays in diagnosis affecting the prognosis and survival.