Publications by authors named "L Florentin"
Article Synopsis
- * Causes of hereditary dRTA involve mutations in specific genes that affect protein functions in kidney cells, which can also cause issues in other body parts, such as the inner ear.
- * The study presented includes a case of neonatal-onset dRTA, introduces two new gene variants, and highlights the need for more research on its renal and extrarenal complications and effective patient management.
The Prognostic Effect of CDKN2A/2B Gene Deletions in Pediatric Acute Lymphoblastic Leukemia (ALL): Independent Prognostic Significance in BFM-Based Protocols.
Diagnostics (Basel)
April 2023
One of the most frequent genes affected in pediatric ALL is the CDKN2A/2B gene, acting as a secondary cooperating event and playing an important role in cell-cycle regulation and chemosensitivity. Despite its inclusion in combined CNA (copy-number alterations) classifiers, like the IKZF1plus entity and the UKALL CNA profile, the prognostic impact of the individual gene deletions outside the context of a combined CNA evaluation remains controversial. Addressing the CDKN2A/2B deletions' additive prognostic effect in current risk-stratification algorithms, we present a retrospective study of a Greek pediatric ALL cohort comprising 247 patients studied over a 24-year period (2000-2023).
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- * Researchers analyzed genetic data from 100 Greek men diagnosed with MBC between 1995-2015, examining BRCA1, BRCA2, and 43 other cancer-related genes.
- * They found pathogenic variants in 13 patients, confirming BRCA2 as the primary genetic risk factor for MBC, while other genes had minimal involvement, complicating the assessment of their collective impact.
Article Synopsis
- Pancreaticoduodenectomy is a complex surgery primarily done for tumors in the pancreatic head and surrounding areas, but it has a high chance of complications.
- Various surgical methods aim to lower the risk of death, yet post-surgery issues continue to be significant challenges.
- Radiologists need to recognize the different imaging results and complications related to this surgery, especially since some complications like fluid collections and tumor recurrence can resemble normal post-surgery changes.
We present two cases of family members (first cousins) with short extremities caused by a novel variant of COL2A1 gene (NM_001844.5). Case 1 description: A 29-year-old woman presented in her first pregnancy for a second trimester anomaly scan at 23 weeks of gestation.
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