75 research outputs found

    Adrenal pheochromocytoma incidentally discovered in a patient with parkinsonism

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    To evaluate the diagnostic route of pheochromocytoma (PHEO) in a patient under dopaminergic treatment. A 70-year-old man with Parkinsonism and under treatment with levodopa and carbidopa came to our observation for evaluation of arterial hypertension and right adrenal mass discovered incidentally. To evaluate adrenal hormone levels we performed a dexamethasone suppression test, plasma aldosterone levels and 24-hr urinary metanephrine, which revealed elevated levels of catecholamines metabolities. 123-I-metaiodobenzylguanidine SPECT scintiscan revealed raised activity within the right adrenal gland concordant with the mass. The diagnosis of PHEO was posed and an elective laparoscopic adrenalectomy was performed; histopathological examination confirmed the PHEO diagnosis. Recently the coexistence of PHEO and Parkinsonism is a very rare association of diseases, with only 3 cases reported in literature. In this article, another case is reported and diagnostic procedures are discusse

    Resistant arterial hypertension in a patient with adrenal incidentaloma multiple steno-obstructive vascular lesions and antiphospholipid syndrome

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    Resistant hypertension is defined as above of blood pressure (≤ 140/90 mmHg) despite therapy with three or more antihypertensive drugs of different classes at maximum tolerable doses with one bling a diuretic. An important consideration in defining a patient with resistant hypertension is the mislabeling of secondary hypertension as resistant hypertension. Here, we report a patients with resistant hypertension caused by multiple stenoocclusive arteries due to antiphospholipid syndrome and coexisting with subclinical Cushing’s syndrome

    Delivering in Urban Areas: A Probabilistic-Behavioral Approach for Forecasting the Use of Electric Micromobility

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    Urban delivering is facing some significant changes that are heading towards unsustainable scenarios. At the same time, local administrations as well as city planners are involved in promoting new solutions that can help to improve city sustainability and livability. In this context, electric micromobility could offer a valuable contribution. In fact, electric micromobility systems such as e-bikes and e-scooters, both at an individual level or as a shared service, could represent sustainable mobility options for city logistics, especially for specific classes of parcel delivery, users’ characteristics and travelled distances. Considering both the growth of e-commerce and the spreading of new options for delivering parcels (e.g., crowdshipping), electric micromobility (e-bikes and e-scooters) could support the penetration and acceptability of such new options, limiting the impacts of delivery operations. After analysis of the current e-commerce background and a review of the current delivery options to satisfy delivery demand, crowdshipping stands out. Thus, the potential shift from private transport to e-micromobility for crowdshipping is investigated, assuming that potential crowdshippers may, mainly, be commuters. The methodology is based on using probabilistic-behavioral models developed within random utility theory, which allow the potential shift towards e-micromobility for commuting to be forecasted. The models were calibrated in Rome, where more than 200 interviews with commuters were available

    The prevalence of resistant arterial hypertension and secondary causes in a cohort of hypertensive patients: a single center experience

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    The prevalence of resistant hypertension (RHT) still remains unknown. Aim of the study was to investigate in a large cohort of hypertensive patients the prevalence of RHT, and to identify in these patients the secondary forms of arterial hypertension (SH). We enrolled a series of 3685 consecutive hypertensive patients. All patients underwent complete physical examination, laboratory tests, screening for SH. Ambulatory blood pressure monitoring (ABPM) was performed to exclude white-coat hypertension. Further, we investigated for any obstructive sleep apnea syndrome (OSA). Only 232 (5.8%) hypertensive patients fulfilled criteria for RHT. 91 (39%) had a SH; 56 (61%) hypertensive patients had a primary aldosteronism, 22 (24%) had OSA, 7 (7.7%) had a hypercortisolism, and 5 (5.5%) had a renovascular hypertension (RVH). Only one patient had adrenal pheochromocytoma. An accurate definition and investigation into RHT is needed. We recommend ABPM to all patients at diagnosis. Finally, all patients must be screened for SH, such as adrenal hypertension, OSA and RVH, especially those who are apparently resistant to polypharmacological treatment

    The prognostic value of 123I-mIBG SPECT cardiac imaging in heart failure patients: a systematic review

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    This systematic review aimed to evaluate the prognostic value of Iodine123 Metaiodobenzylguanidine (123I-mIBG) SPECT myocardial imaging in patients with heart failure (HF) and to assess whether semi-quantitative SPECT scores can be useful for accurate risk stratification concerning arrhythmic event (AE) and sudden cardiac death (SCD) in this cohort. A systematic literature search of studies published until November 2020 regarding the application of 123ImIBG SPECT in HF patients was performed, in Pubmed, Scopus, Medline, Central (Cochrane Library) and Web Of Science databases, including the words ‘‘MIBG’’, ‘‘metaiodobenzylguanidine’’, ‘‘heart’’, ‘‘spect’’, and ‘‘tomographic’’. The included studies had to correlate 123ImIBG SPECT scores with endpoints such as overall survival and prevention ofAE and SCD inHF patients. According to the sixteen studies included, the analysis showed that 123I-mIBG SPECT scores, such as summed defect score (SDS), regional wash-out (rWO), and regional myocardial tracer uptake, could have a reliable prognostic value in patients with HF. An increased SDS or rWO, as well as a reduced 123I-mIBGmyocardial uptake, have proven to be effective in predicting AE- and SCD-specific risk in HF patients. Despite achieved results being promising, a more reproducible standardized method for semi-quantitative analysis and further studies with larger cohort are needed for 123I-mIBG SPECT myocardial imaging to be as reliable and, thus, accepted as the conventional 123I-mIBG planar myocardial imaging

    Subtle changes in central dopaminergic tone underlie bradykinesia in essential tremor

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    Introduction: In this research, our primary objective was to explore the correlation between basal ganglia dopaminergic neurotransmission, assessed using 123I-FP-CIT (DAT-SPECT), and finger movements abnormalities in patients with essential tremor (ET) and Parkinson's disease (PD). Methods: We enrolled 16 patients with ET, 17 with PD, and 18 healthy controls (HC). Each participant underwent comprehensive clinical evaluations, kinematic assessments of finger tapping. ET and PD patients underwent DAT-SPECT imaging. The DAT-SPECT scans were subjected to both visual and semi-quantitative analysis using DaTQUANT®. We then investigated the correlations between the clinical, kinematic, and DAT-SPECT data, in patients. Results: Our findings confirm that individuals with ET exhibited slower finger tapping than HC. Visual evaluation of radiotracer uptake in both striata demonstrated normal levels within the ET patient cohort, while PD patients displayed reduced uptake. However, there was notable heterogeneity in the quantification of uptake within the striata among ET patients. Additionally, we found a correlation between the amount of radiotracer uptake in the striatum and movement velocity during finger tapping in patients. Specifically, lower radioligand uptake corresponded to decreased movement velocity (ET: coef. = 0.53, p-adj = 0.03; PD: coef. = 0.59, p-adj = 0.01). Conclusion: The study's findings suggest a potential link between subtle changes in central dopaminergic tone and altered voluntary movement execution, in ET. These results provide further insights into the pathophysiology of ET. However, longitudinal studies are essential to determine whether the slight reduction in dopaminergic tone observed in ET patients represents a distinct subtype of the disease or could serve as a predictor for the clinical progression into PD

    A Genetic and Metabolic Staging System for Predicting the Outcome of Nonalcoholic Fatty Liver Disease

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    Nonalcoholic fatty liver disease (NAFLD) is an emerging cause of liver-related events (LREs). Here, we have assessed the ability of a composite score based on clinical features, metabolic comorbidities, and genetic variants to predict LREs. A total of 546 consecutive patients with NAFLD were recruited and stratified according to the fibrosis-4 (FIB-4) index. LREs were defined as occurrence of hepatocellular carcinoma or hepatic decompensation. Cox regression multivariate analysis was used to identify baseline variables associated with LREs. The UK Biobank was used as the validation cohort, and severe liver disease (incidence of cirrhosis, decompensated liver disease, hepatocellular carcinoma, and/or liver transplantation) was used as the outcome. LREs were experienced by 58 patients, only one of whom was in the cohort of patients with a FIB-4 score < 1.3. Multivariate Cox regression analysis of 229 patients with a FIB-4 score ≥ 1.3 highlighted clinical variables independently associated with the development of LREs, including older age, low platelet count, low albumin, low high-density lipoprotein cholesterol, certain genetic factors, and interactions between genetic factors and sex or diabetes. The area under the curve (AUC) for the model was 0.87 at 1, 3, and 5 years. Our novel Genetic and Metabolic Staging (GEMS) scoring system was derived from the Cox model linear predictor, ranked from 0 to 10, and categorized into five classes (0-5, 5-6, 6-7, 7-8, and 8-10). The risk of LREs increased from 4% in patients in the best class (GEMS score 0-5) to 91% in the worst (GEMS score 8-10). GEMS score was associated with incident severe liver disease in the study population (hazard ratio, 1.56; 95% confidence interval, 1.48-1.65; P < 0.001) as well as in the UK Biobank cohort where AUCs for prediction of severe liver disease at 1, 3, and 5 years were 0.70, 0.69, and 0.67, respectively. Conclusion: The novel GEMS scoring system has an adequate ability to predict the outcome of patients with NAFLD

    Molecular and histological traits of reduced lysosomal acid lipase activity in the fatty liver

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    Recent studies demonstrated reduced blood lysosomal acid lipase (LAL) activity in patients with nonalcoholic fatty liver disease (NAFLD). We aimed to verify hepatic LAL protein content and activity in in vitro and in vivo models of fat overload and in NAFLD patients. LAL protein content and activity were firstly evaluated in Huh7 cells exposed to high-glucose/high-lipid (HGHL) medium and in the liver of C57BL/6 mice fed with high-fat diet (HFD) for 4 and 8 months. LAL protein was also evaluated by immunohistochemistry in liver biopsies from 87 NAFLD patients and 10 controls, and correlated with hepatic histology. Huh7 cells treated with HGHL medium showed a significant reduction of LAL activity, which was consistent with reduced LAL protein levels by western blotting using an antibody towards the N-term of the enzyme. Conversely, antibodies towards the C-term of the enzyme evidenced LAL accumulation, suggesting a post-translational modification that masks the LAL N-term epitope and affects enzymatic activity. Indeed, we found a high rate of ubiquitination and extra-lysosomal localization of LAL protein in cells treated with HGHL medium. Consistent with these findings, inhibition of proteasome triggered dysfunctional LAL accumulation and affected LAL activity. Accumulation of ubiquitinated/dysfunctional LAL was also found in the liver of HFD fed mice. In NAFLD patients, hepatic levels of non-ubiquitinated/functional LAL were lower than in controls and inversely correlated with disease activity and some of the hallmarks of reduced LAL. Fat overload leads to LAL ubiquitination and impairs its function, possibly reducing hepatic fat disposal and promoting NAFLD activity
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