17 research outputs found

    Break-apart interphase fluorescence in situ hybridization assay in papillary thyroid carcinoma: on the road to optimizing the cute-off level for RET/PTC rearrangements.

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    Objective: Chromosomal rearrangements of the RET proto-oncogene is one of the most common molecular events in papillary thyroid carcinoma (PTC). However, their pathogenic role and clinical significance are still debated. This study aimed to investigate the prevalence of RET/PTC rearrangement in a cohort of BRAF WT PTCs by fluorescence in situ hybridization (FISH) and to search a reliable cut-off level in order to distinguish clonal or non-clonal RET changes. Design: Forty BRAF WT PTCs were analyzed by FISH for RET rearrangements. As controls, six BRAFV600E mutated PTCs, 13 follicular adenomas (FA), and ten normal thyroid parenchyma were also analyzed. Methods: We performed FISH analysis on formalin-fixed, paraffin-embedded tissue using a commercially available RET break-apart probe. A cut-off level equivalent to 10.2% of aberrant cells was accepted as significant. To validate FISH results, we analyzed the study cohort by qRT-PCR. Results: Split RETsignals above the cut-off level were observed in 25% (10/40) of PTCs, harboring a percentage of positive cells ranging from 12 to 50%, and in one spontaneous FA (1/13, 7.7%). Overall, the data obtained by FISH matched well with qRTPCR results. Challenging findings were observed in five cases showing a frequency of rearrangement very close to the cut-off. Conclusions: FISH approach represents a powerful tool to estimate the ratio between broken and non-broken RET tumor cells. Establishing a precise FISH cut-off may be useful in the interpretation of the presence of RET rearrangement, primarily when this strategy is used for cytological evaluation or for targeted therapy

    Risk factors for postoperative cervical haematoma in patients undergoing thyroidectomy: a retrospective, multicenter, international analysis (REDHOT study)

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    Background Postoperative cervical haematoma represents an infrequent but potentially life-threatening complication of thyroidectomy. Since this complication is uncommon, the assessment of risk factors associated with its development is challenging. The main aim of this study was to identify the risk factors for its occurrence.Methods Patients undergoing thyroidectomy in seven high-volume thyroid surgery centers in Europe, between January 2020 and December 2022, were retrospectively analysed. Based on the onset of cervical haematoma, two groups were identified: Cervical Haematoma (CH) Group and No Cervical Haematoma (NoCH) Group. Univariate analysis was performed to compare these two groups. Moreover, employing multivariate analysis, all potential independent risk factors for the development of this complication were assessed.Results Eight thousand eight hundred and thirty-nine patients were enrolled: 8,561 were included in NoCH Group and 278 in CH Group. Surgical revision of haemostasis was performed in 70 (25.18%) patients. The overall incidence of postoperative cervical haematoma was 3.15% (0.79% for cervical haematomas requiring surgical revision of haemostasis, and 2.35% for those managed conservatively). The timing of onset of cervical haematomas requiring surgical revision of haemostasis was within six hours after the end of the operation in 52 (74.28%) patients. Readmission was necessary in 3 (1.08%) cases. At multivariate analysis, male sex (P < 0.001), older age (P < 0.001), higher BMI (P = 0.021), unilateral lateral neck dissection (P < 0.001), drain placement (P = 0.007), and shorter operative times (P < 0.001) were found to be independent risk factors for cervical haematoma.Conclusions Based on our findings, we believe that patients with the identified risk factors should be closely monitored in the postoperative period, particularly during the first six hours after the operation, and excluded from outpatient surgery

    A late diagnosis of Primary Aldosteronism

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    We report the case of a 41-year-old male patient with juvenile onset refractory hypertension while taking four drugs including a diuretic. Fourteen years before he underwent a complete investigation for secondary hypertension (including the aldosterone to renin ratio-ARR) that was negative. Since that, hypertension control gradually worsened, hypertensive organ damage aggravated and hypokalemia developed in spite of ACE inhibitor treatment. At the re-evaluation ARR was elevated, and the further workup for primary aldosteronism demonstrated an unilateral aldosterone producing adenoma that was surgically removed, with subsequent optimal blood pressure control with two anti-hypertensive drugs. In this case, the failure of the first screening prevented a correct diagnosis of primary aldosteronism, with consequent inadequate blood pressure control in following years and end organ damage. The case suggests the need of clinical follow-up and eventual reappraisal of patients showing a condition of refractory hypertension associated with hypokalemia despite a first negative screening test

    A Late Diagnosis of Primary Aldosteronism

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    Sealing Wax and Bottles in Bags—A Paradigm Shift in Refined Olive Oil Packaging: Preliminary Results

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    Generally, olive oil possesses natural protection against oxidation due to antioxidant compounds such as phenols and tocopherols. However, in the case of refined olive oil, the refining process unavoidably reduces the presence of these compounds. Considering these considerations, the objective of this study was to address the issues related to the “tightness” of the cap used for packaging oil in SALOV, aiming to extend the product’s shelf life. The oil under investigation was packaged in 250 mL transparent glass bottles, each filled with either argon or air. Subsequently, the samples were divided into three groups: one group sealed with a conventional screw cap, another covered with a special protective bag, and a third one sealed with a wax cover directly on the cap. The storage period varied, during which the atmospheric conditions were monitored daily through both destructive and non-destructive analyses. The preliminary results indicate that alternative preservation techniques, such as the use of argon, sealing wax, and protective bags, can effectively enhance the shelf life of the oil and maintain its quality (reduce oxidation, preserve phenolic compounds, and reduce the degradation of pigments). Further research and development in this area could lead to the production of high-quality extra virgin olive oils with extended shelf life and improved sensory and nutritional properties

    Different patterns of confabulation in left visuo-spatial neglect

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    Confabulating patients produce statements and actions that are unintentionally incongruous to their history, background, present and future situation. Here we present the very unusual case of a patient with right hemisphere damage and signs of left visual neglect, who, when presented with visual stimuli, confabulated both for consciously undetected and for consciously detected left-sided details. Advanced anatomical investigation suggested a disconnection between the parietal and the temporal lobes in the right hemisphere. A disconnection between the ventral cortical visual stream and the dorsal fronto-parietal networks in the right hemisphere may contribute to confabulatory behaviour by restricting processing of left-sided stimuli to pre-conscious stages in the ventral visual stream

    Sealing Wax and Bottles in Bags—A Paradigm Shift in Refined Olive Oil Packaging: Preliminary Results

    No full text
    Generally, olive oil possesses natural protection against oxidation due to antioxidant compounds such as phenols and tocopherols. However, in the case of refined olive oil, the refining process unavoidably reduces the presence of these compounds. Considering these considerations, the objective of this study was to address the issues related to the “tightness” of the cap used for packaging oil in SALOV, aiming to extend the product’s shelf life. The oil under investigation was packaged in 250 mL transparent glass bottles, each filled with either argon or air. Subsequently, the samples were divided into three groups: one group sealed with a conventional screw cap, another covered with a special protective bag, and a third one sealed with a wax cover directly on the cap. The storage period varied, during which the atmospheric conditions were monitored daily through both destructive and non-destructive analyses. The preliminary results indicate that alternative preservation techniques, such as the use of argon, sealing wax, and protective bags, can effectively enhance the shelf life of the oil and maintain its quality (reduce oxidation, preserve phenolic compounds, and reduce the degradation of pigments). Further research and development in this area could lead to the production of high-quality extra virgin olive oils with extended shelf life and improved sensory and nutritional properties

    Urinary extracellular vesicle mRNA analysis of sodium chloride cotransporter in hypertensive patients under different conditions

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    Urinary extracellular vesicles (UEV) mainly derive from cells of the urogenital tract and their cargo (proteins, nucleic acids, lipids, etc.) reflects their cells of origin. Na chloride cotransporter (NCC) is expressed at the kidney level in the distal convoluted tubule, is involved in salt reabsorption, and is the target of the diuretic thiazides. NCC protein has been recognized and quantified in UEV in previous studies; however, UEV NCC mRNA has never been studied. This study aimed to identify and analyze NCC mRNA levels in primary aldosteronism (PA). The rationale for this investigation stems from previous observations regarding NCC (protein) as a possible biomarker for the diagnosis of PA. To evaluate modulations in the expression of NCC, we analyzed NCC mRNA levels in UEV in PA and essential hypertensive (EH) patients under different conditions, that is, before and after saline infusion, anti-aldosterone pharmacological treatment, and adrenal surgery. NCC mRNA was measured by RT-qPCR in all the samples and was regulated by volume expansion. Its response to mineralocorticoid receptor antagonist was correlated with renin, and it was increased in PA patients after adrenalectomy. NCC mRNA is evaluable in UEV and it can provide insights into the pathophysiology of distal convolute tubule in different clinical conditions including PA

    The Diagnostic Pitfalls of Mucormycosis

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    Background: Invasive mucormycosis is a very aggressive fungal disease among immunocompromised pediatric patients caused by saprophytic fungi that belong to the order of the Mucorales.Case Report: We describe a case of of Lichtheimia corymbifera infection in a 15-year-old child with B-cell-Non-Hodgkin Lymphoma (B-NHL) involving lung, kidney and thyroid that initially was diagnosed as probable aspergillosis delaying the effective therapy for mucormycosis.Conclusions: This case showed that also the intensive chemotherapy for B-NHL may represent a risk factor for mucormycosis infection. Liposomal amphotericin B and surgery remain the key tools for the successful treatment of this aggressive disease
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