Publications by authors named "Madalina Piron-Dumitrascu"

Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as , and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer.

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Article Synopsis
  • Lynch Syndrome, linked to mutations in mismatch repair (MMR) genes, is a major factor in both colorectal and endometrial cancers, but the genetic details of these connections are not fully understood.
  • This study utilized whole exome sequencing from 13 patients with Lynch syndrome-associated endometrial cancer to compare germline and somatic mutations, identifying thousands of variants and confirming the role of specific pathogenic mutations.
  • Findings include shared mutations in MMR genes and new somatic mutations in the PIK3CA and PTEN genes, suggesting potential targeted treatment approaches for these cancers.
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This study provides a conceptual exploration of an innovative telemedicine-enhanced team-based care (TETC) model, tailored to prenatal care, integrating a multidisciplinary team approach with advanced telemedicine technologies. The algorithm developed for TETC aims to optimize communication and coordination among healthcare professionals, including obstetricians, midwives, nutritionists, and mental health experts. This cohesive team structure ensures a comprehensive care plan encompassing all facets of maternal and fetal health.

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Scientific research in the field of physiology and pathology of the umbilical cord is quite limited and imperfect. The purpose of the study was to evaluate the histological architecture of the pathological umbilical cord and investigate the relationship between the main parameters and placental postnatal macromorphometric characteristics, which serve as a reflection of placental dysfunction. Four groups of patients were included, each undergoing a postnatal histological and topographic examination of the umbilical cord: Wharton's jelly edema (10 samples), velamentous cord insertion (10 samples), single umbilical artery (10 samples), and physiological pregnancy (10 samples).

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