Comparing the quality of life of adolescent girls with and without polycystic ovary syndrome and identifying the predictor factors.

Objectives: Polycystic Ovary Syndrome (PCOS) is a complex hormonal disorder that affects the endocrine glands and reproductive processes in adolescent girls, potentially impacting their quality of life. This study aims to compare the quality of life between adolescent girls with PCOS and those without PCOS.

Methods: The present study is an analytical cross-sectional study.

Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.

Objectives: Pseudohypoaldosteronism type 1 (PHA1) has two genetically distinct variants, including renal and systemic forms. Systemic PHA type I (PHA1B) has varying degrees of clinical presentation and results from mutations in genes encoding subunits of the epithelial sodium channel (ENaC) including the alpha, beta, and gamma subunits. To date, about 45 variants of PHA1B have been identified.

Has_circ_0008285/miR-211-5p/SIRT-1 Axis Suppress Ovarian Cancer Cells Progression.

The significant functional role of circular RNAs (circRNAs) in the progression of malignant tumors, including ovarian cancer, has been shown in various studies. In this study, we aimed to investigate the abnormal expression of hsa_circ_0008285 and its role in ovarian cancer pathogenesis. Quantitative real time polymerase chain reaction (qRT-PCR) and Western blot methods were used to detect the expression of hsa_circ_0008285 and some target genes in ovarian cancer tissues and related cell lines.

Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.

Introduction: Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that leads to vision loss. In this study, we report the outcome of a short period of treatment with teriparatide in one patient with OPPG.

Case Presentation: The patient was a 17-year-old girl who suffered a bone fracture at the age of two and was diagnosed with OPPG at the age of three.

Novel Homozygous Nonsense Mutation in the Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are presented. Whole exome sequencing of DNA enriched for exonic regions was performed with SureSelect 38Mbp all exon kit v.