Radiogenomics in Clear Cell Renal Cell Carcinoma: Machine Learning-Based High-Dimensional Quantitative CT Texture Analysis in Predicting PBRM1 Mutation Status

OBJECTIVE. The purpose of this study is to evaluate the potential value of machine learning (ML)-based high-dimensional quantitative CT texture analysis in predicting the mutation status of the gene encoding the protein polybromo-1 (PBRM1) in patients with clear cell renal cell carcinoma (RCC)

Effect of Orthodontic Appliances on Oral Microbiota-6 Month Follow-up

WOS: 000295813600017PubMed ID: 22046705Objective: This study investigates the effect of fixed and removable orthodontic appliances among children on salivary Streptococcus mutans, Lactobacillus sp. and Candida albicans. Study Design: The study was conducted on 69 patients aged between 6-17 years who used fixed or removable orthodontic appliances. Five ml samples of unstimulated saliva from each patient were collected at baseline and at the I, 3 and 6 month periodic controls. Samples were diluted and plated on Mitis Salivarus Agar (MSA), Man Rogosa Sharp Agar (MRS) and Saboroud Dextrose Agar (SDA). The growths on the plates were examined under a stereomicroscope. Numbers of colony forming units (CFU) per plate were counted. For statistical analysis, the paired t test and Chi-Square were used. Results: S mutans and Lactobacillus sp counts increased significantly 6 months after the insertion of fixed/removable orthodontic appliances in the oral cavity. A significant increase for C albicans presence was noted after 3 months compared with baseline for fixed appliances. Conclusion: Long-term utilization of orthodontic appliances may have a negative effect on microbial flora and increase the risk of new carious lesions and periodontal problems. Patients should be recalled within short time intervals to be motivated for oral hygiene during their orthodontic therapy

Complex urogenital malformation associated with female pseudohermaphroditism: Caudal dysgenesis syndrome

Caudal dysgenesis syndrome is a rare cause of female pseudohermaphroditism. This syndrome consists of absent perineal and anal openings in association with ambiguous genitalia, urogenital, colonic, and lumbosacral anomalies. We report a case of caudal dysgenesis syndrome in an infant who had non-palpable testes, bifid scrotum, a phallus-like structure and urethral atresia. Radiological evaluation revealed bilateral hydronephrosis, bifid uterus, cervix and vagina. Caudal dysgenesis syndrome should be considered in any female infant presenting with bilateral streak ovaries, and Mullerian and genito-urinary anomalies

A rare cause of a 46, XY disorders of sex development: Persistent mullerian duct syndrome

WOS: 000418201400012Persistent mullerian duct syndrome (PMDS) is a relatively rare form of a 46, XY disorders of sex development and clinically characterized by undescended testes and the presence of mullerian duct derivatives such as a uterus and fallopian tubes in males with normal external genitalia. The disease is frequently caused either by the genetic defect of the anti-mullerian hormone (AMH) or its receptor AMH receptor type 2 (AMHR2) gene. AMHR2 mutations have been reported in 45% of genetically proven cases with PMDS. The most common referral findings are bilateral cryptorchidism or transverse testicular ectopia. The presence of uterus and tubes is usually detected during surgery for cryptorchidism. Herein we have presented a PMDS patient with previously reported homozygous AMHR2 mutation, in whom mullerian structures (uterus and fallopian tubes) were detected during laparoscopic intervention performed with the indication of bilateral undescended testis

Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C

WOS: 000429850300010Pheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma