Search

Background: The severity of systemic congestion is associated with increased portal vein flow pulsatility (PVP)., Aim: To determine the usefulness of PVP as a marker of decongestion and prognosis in acute decompensated heart failure (ADHF) patients., Methods: 105 patients, 60% of whom were men, were hospitalized with ADHF, and their PVP index (PVPI) was calculated (maximum velocity-minimum velocity/maximum velocity) × 100 on admission and before discharge, along with their EVEREST score, inferior vena cava diameter (IVC), NT-proBNP, serum sodium, and glomerular filtration rate. A PVPI ≥ 50% was defined as a marker of systemic congestion. After treatment with loop diuretics, a decrease in PVPI of >50% before discharge was considered a marker of decongestion The patients were classified into two groups (G): G1-PVPI decrease ≥ 50% (54 patients) and G2-PVPI decrease < 50% (51 patients)., Results: At discharge, compared to G2, G1 patients had lower mean PVPI (14.2 vs. 38.9; p < 0.001), higher serum Na (138 vs. 132 mmol/L, p = 0.03), and a higher number of patients with a significant (>30%) NT-proBNP decrease (42 vs. 27, p = 0.007). PVPI correlated with IVC (r = 0.55, p < 0.001), NT-proBNP (r = 0.21, p = 0.04), and serum Na (r = -0.202, p = 0.04). A total of 55% of patients had worsening renal failure (G1 63% vs. G2 48%, p = 0.17). After 90 days, G2 patients had higher mortality (27.45% vs. 3.7 p = 0.001) and rehospitalization (49.01% vs. 33.33%, p < 0.001). In multivariate regression analysis, PVPI was an independent predictor of rehospitalization (OR 1.05, 95% CI 1.00-1.10, p = 0.048)., Conclusions: Portal vein flow pulsatility, a meaningful marker of persistent subclinical congestion, is related to short-term prognosis in ADHF patients.

A hydatidiform mole (HM) or molar pregnancy is the most common benign form of gestational trophoblastic disease characterized by a proliferation of the trophoblastic epithelium and villous edema. Hydatidiform moles are classified into two forms: complete and partial hydatidiform moles. These two types of HM present morphologic, histopathologic and cytogenetic differences. Usually, hydatidiform moles are a unique event, but some women present a recurrent form of complete hydatidiform moles that can be sporadic or familial. The appearance of hydatidiform moles is correlated with some genetic events (like uniparental disomy, triploidy or diandry) specific to meiosis and is the first step of embryo development. The familial forms are determined by variants in some genes, with NLRP7 and KHDC3L being the most important ones. The identification of different types of hydatidiform moles and their subsequent mechanisms is important to calculate the recurrence risk and estimate the method of progression to a malign form. This review synthesizes the heterogeneous mechanisms and their implications in genetic counseling.

Cancer predisposition syndromes are entities determined especially by germinal pathogenic variants, with most of them autosomal dominantly inherited. The risk of a form of cancer is variable throughout life and affects various organs, including the thyroid. Knowing the heterogeneous clinical picture and the existing genotype-phenotype correlations in some forms of thyroid cancer associated with these syndromes is important for adequate and early management of patients and families. This review synthesizes the current knowledge on genes and proteins involved in cancer predisposition syndromes with thyroid cancer and the phenomena of heterogeneity (locus, allelic, mutational, and clinical).