Publications by authors named "N G Mokrysheva"
Article Synopsis
- The diagnosis of thyroid gland tumors is complicated, requiring specialized expertise and significant time, especially when analyzing many whole slide images from one patient.
- This paper explores using artificial intelligence, specifically a Multiple-Instance Learning model, trained on weak patient-level data from over 1100 patients to differentiate between benign and malignant cases, achieving a notable F1-Score of 0.85.
- The study highlights challenges in using real-world data, such as potential issues that could lead to model overfitting, and emphasizes that detailed annotations improve accuracy, especially in smaller datasets.
Background/objectives: Cervical cancer (CC) remains a significant global health challenge, characterized by genetic heterogeneity and a complex molecular landscape, both of which contribute to its pathogenesis. This study aimed to investigate germline variants in proto-oncogenes and tumor suppressor genes in cervical cancer patients, with the objective of clarifying their potential role in disease development.
Methods: We utilized a custom next-generation sequencing (NGS) panel targeting 48 genes implicated in oncogenesis.
The rarity and variability of MEN1-related primary hyperparathyroidism (mPHPT) has led to contradictory data regarding the bone phenotype in this patient population. A single-center retrospective study was conducted among young age- and sex-matched patients with mPHPT and sporadic hyperparathyroidism (sPHPT). The main parameters of calcium-phosphorus metabolism, bone remodeling markers, and bone mineral density (BMD) measurements were obtained during the active phase of hyperparathyroidism before parathyroidectomy (PTE) and 1 year after.
View Article and Find Full Text PDFBackground: In the first months after the pandemic of the COVID-19, the provision of medical care through telemedicine technologies took a leading position, in particular regarding endocrine nosologies. Meanwhile, at present, comprehensive information on telecommunications interaction between doctors of various medical organizations of the regions of the Russian Federation and employees of federal centers is insufficient, which determines the relevance of studying this topic.
Aim: Analysis of the provision of medical care in remote interaction of medical workers using telemedicine technologies («doctor-doctor») between the Endocrinology Research Centre and the regions of the Russian Federation in 2019-2023.
Article Synopsis
- Cystic fibrosis (CF) is a common genetic disorder influenced by mutations in the CFTR gene, with its prevalence varying based on genetic diversity and ethnicity in different populations.
- A study using targeted next-generation sequencing identified 35 distinct mutations in CF patients from Bashkortostan, Russia, revealing that five mutations account for nearly 79% of cases.
- The findings underscore the need for tailored genetic screening strategies, considering regional and ethnic genetic variants to enhance the detection of CFTR mutations in patients.