Research Infinity - All Articles

Biomedical

A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers

Current National Comprehensive Cancer Network ® (NCCN ®) guidelines for Colorectal Genetic/Familial High-Risk Assessment provide limited guidance for genetic testing for individuals with already diagnosed hereditary cancer conditions. We are presenting the case of a 36-year-old woman who was diagnosed with Lynch Syndrome at age 23 after genetic testing for a familial variant (c.283del) in the ML...
Posted 8 months ago

Biomedical

Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by a germline mutation in the fumarate hydratase (FH) gene that manifests with cutaneous leiomyomas, uterine fibroids, and renal cell cancer (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is no standardized therapy for advanced HLRCC-RCC. In this s...
Posted 8 months ago

Biomedical

Beyond the pill: contraception and the prevention of hereditary ovarian cancer

BRCA1 and BRCA2 mutation carriers face an elevated lifetime risk of developing ovarian cancer. Oral contraceptives have been shown to significantly decrease the risk of ovarian cancer by approximately 50% in this high-risk population. Changes in contraceptive formulations and patterns of use over time have introduced lower hormonal dosages, different steroid types and non-oral routes of administra...
Posted 8 months ago

Biomedical

Genetic susceptibility to hereditary non-medullary thyroid cancer

Non-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in recent years, the familial form of the disease has also become more common than previously reported, accounting for 5–15% of NMTC cases. Familial NMTC is further classified as non-syndromic and the less common syndromic FNMTC. Although syndromic NMTC has well-known genetic risk...
Posted 8 months ago

Biomedical

Clear cell and papillary renal cell carcinomas in hereditary papillary renal cell carcinoma (HPRCC) syndrome: a case report

Background Hereditary papillary renal cell carcinoma (HPRCC) is a rare autosomal dominant disease characterized by the development of multiple and bilateral papillary type I renal cell carcinomas (RCC) and papillary adenomas caused by activating mutations in the MET proto-oncogene. Classically, distinctive histological features of RCC are described according to the familial renal cell carcinoma s...
Posted 8 months ago

Biomedical

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome

In hereditary leiomyomatosis and renal cell carcinoma syndrome, fumarate hydratase–deficient renal cell carcinomas typically present as aggressive, unilateral, often cystic masses with heterogeneous enhancement. These tumors can metastasize early, making appropriate imaging and staging critical for diagnosis and management. Teaching point: When a renal lesion suspected of RCC is identified in...
Posted 8 months ago

Biomedical

A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is believed to result from an autosomal dominant mutation in the fumarate hydratase (FH) gene on chromosome 1. It is characterized by leiomyomas, mainly uterine or cutaneous, and renal cell carcinoma (RCC). The most common type of RCC associated with HLRCC is type II papillary RCC although other types are seen. Of note, chromophob...
Posted 8 months ago

Biomedical

Optimization of Magnetic Susceptibility Weighted Imaging for Female Pelvic Scans

Background and Objectives: The existing recommendations for female pelvic magnetic susceptibility weighted imaging MRI (FP-SWI) have not been optimized to capture the disease characteristics of the female pelvis. Therefore, it is imperative to explore acquisition parameters before conducting larger-scale studies. To establish optimized flip angle (FA) for acquiring FP-SWI to improve the image qual...
Posted 8 months ago

Biomedical

Accelerating segmentation of fossil CT scans through Deep Learning

Recent developments in Deep Learning have opened the possibility for automated segmentation of large and highly detailed CT scan datasets of fossil material. However, previous methodologies have required large amounts of training data to reliably extract complex skeletal structures. Here we present a method for automated Deep Learning segmentation to obtain high-fidelity 3D models of fossils digit...
Posted 8 months ago

Physics Maths Engineering

Hydroxyl-stretching region in the Raman broad scans on minerals of the vivianite group

Vivianite is a hydrated iron phosphate mineral (Fe3(PO4)2·8H2O), crystallized in a monoclinic system. It is the endmember of a mineral series known as the vivianite group, where minerals have the general formula A3(XO4)2·8H2O, A is a divalent metal cation and X is phosphorus P or arsenic As. Today, vivianite is attracting interest as a promising material for recovering phosphorous from wastewate...
Posted 8 months ago