Arterial involvement in Fabry disease: state of the art and future diagnostic purposes.

Anderson-Fabry disease (FD) is a rare genetic, progressive, and multi-systemic condition, with X-linked inheritance. This is caused by pathogenic variants in the GLA gene, coding for the lysosomal enzyme called alpha-galactosidase A (aGLA), responsible for the cleavage of globotriaosylceramide (Gb3). The reduced or absent activity of aGLA causes the intracellular accumulation of Gb3, particularly in smooth and endothelial muscle cells, which causes cellular dysfunction. The main organs involved are the central nervous system, heart, and kidneys. However, being a ubiquitous enzyme, FD disease must be considered a systemic disease involving the peripheral nervous system, ocular and audio-vestibular systems. Also, the vascular district is damaged but the pathophysiology of vasculopathy in FD is not yet entirely understood. In literature, many vascular diagnostic tests were used to evaluate this specific involvement in FD, i.e., carotid intima media thickness (cIMT), arterial stiffness (AS), flow-mediated dilation (FMD) and atherosclerotic plaques; evaluation of vascular calcifications in FD patients is not presently available. In this review, we examined the current available literature on vascular aspects in FD. Moreover, we presented our global vascular evaluation, based on Radio Frequency Duplex Ultrasound (RF-DU), plaques, and vascular calcifications, to apply to FD patients.

Post-mortem diagnosis of sepsis: when it's too late.

Post-mortem diagnosis of sepsis is often very difficult to make, especially in the elderly affected by multiple comorbidities. However, clinical evaluation following histology, immunohistochemistry, microbiological tests, immunoassays and proteomics can improve reliability of this post-mortem diagnosis.

Pharmacomechanical catheter-directed thrombolysis for acute iliofemoral deep vein thrombosis: our case series.

OBJECTIVE: This is a retrospective study on Pharmacomechanical Catheter-Directed Thrombolysis (PCDT) in the treatment of acute iliofemoral Deep Vein Thrombosis (DVT). PATIENTS AND METHODS: From March 2013 to November 2016, 22 patients (26 limbs), median age 46.7 years with acute (<21 days) extensive iliofemoral DVT underwent Percutaneous Mechanical Thrombectomy (PMT) with Aspirex (Straub Medical, Wangs, Switzerland), followed by Catheter-Directed Thrombolysis (CDT). Subsequent endovascular stenting was performed for underlying obstruction. The follow-ups were conducted up to 1 year, in two Centers by experienced operators. Post-Thrombotic Syndrome (PTS) was evaluated by assessing the Villalta Scale (VS) and measuring orthostatic venous pressure. RESULTS: Post-operative iliofemoral vein patency was restored in almost all cases (95.5%). Standard urokinase dose was 80.000 IU per hour; mean infusion time was 32.5 hours. Stenting was performed in 15 cases (68%). Median follow-up was 19.9 months (6-48 months); 21/22 patients completed the 12 months follow-up. At 30 days follow-up symptoms disappeared in 21/22 cases (95.5%), with one case (4.5%) of DVT recurrence. At 1-year follow-up there were 3 cases (14.2%) of mild PTS; 18 patients (85.8%) were free from PTS. At 1-year follow-up venous pressure measurement showed normal values in 11 cases (52.4%), mild hypertension in 7 patients (33.3%), moderate hypertension (80-100 mmHg) in 2 cases (9.5%) and severe hypertension (110 mmHg) in one case (4.8%). Neither major nor minor complications were observed. CONCLUSIONS: PMT with Aspirex combined with CDT with urokinase seems to be a safe and effective treatment for acute iliofemoral DVT and it shows promising results in reducing the risk of PTS. Thus, we suggest a controlled trial with this treatment strategy.

MEDS score and vitamin D status are independent predictors of mortality in a cohort of Internal Medicine patients with microbiological identified sepsis.

OBJECTIVE: Sepsis is a life-threatening disease resulting from the interaction between pathogen and host response; its dysregulation causes organ dysfunction, high morbidity, and mortality. Despite the increase of septic patients admitted to Internal Medicine wards, data about clinical predictors of mortality in this setting are still lacking. The aim of this study was to evaluate the role of MEDS score and vitamin D as predictors of mortality (28-day and 90-day) in septic patients admitted to the Internal Medicine department. PATIENT S AND METHODS: Prospectively collected clinical data, lab tests including vitamin D, and clinical scores (SIRS, MEDS, SCS, REMS, SOFA, qSOFA) were retrospectively analyzed. Eighty-eight microbiologically identified septic patients (median age 75 years old, IQR 65-82 years old; range 37-94 years old) were evaluated. RESULTS: Twenty-three patients (26.1%) died at 28 days, 33 (37.5%) died at 90 days. The logistic regression showed a positive effect of MEDS score (p=0.006; OR 1.24, 95% CI 1.08-1.49), and a negative effect of low vitamin D levels (p=0.008, OR 0.83, 95% CI 0.72-0.94) on mortality. Moreover, the cut-off of 7 points for MEDS score and of 7 ng/ml for vitamin D levels significantly predicted poor prognosis at 28 and 90 days. CONCLUSIONS: MEDS score and vitamin D levels represent independent predictors of mortality in a cohort of Internal Medicine septic patients. Further studies on larger samples are needed to confirm our results and to clarify the pathophysiological mechanisms at the basis of vitamin D deficiency as a predictor of mortality in septic patients.

Necrotic tumor versus brain abscess: importance of amino acids detected at 1H MR spectroscopy--initial results.

PURPOSE: To assess the usefulness of the 0.9-ppm peak from amino acids (-CH3 moieties from valine, leucine, and isoleucine) for the differentiation of brain abscesses and tumors at in vivo hydrogen 1 magnetic resonance (MR) spectroscopy. MATERIALS AND METHODS: Amino acid concentrations were determined in vitro in 13 purulent samples from brain and nonbrain tissues and in nine aseptic fluids from necrotic brain tumors at two-dimensional (2D) 1H MR spectroscopy and liquid chromatography. Thirty-four patients with cystic intracerebral mass lesions (28 tumors, six abscesses) were examined at 1H MR spectroscopy in vivo. RESULTS: Amino acids were identified in vitro in both purulent and aseptic samples. Amino acid concentrations measured in the aseptic fluids at both liquid chromatography and 2D MR spectroscopy were far below the detection threshold of in vivo 1H MR spectroscopy. Quantitative results obtained at 2D MR spectroscopy showed no overlap in the ranges of amino acid concentrations in purulent and aseptic samples. In vivo, the proton spectra obtained with a 136-msec echo time (TE) revealed amino acids (inverted peak at 0.9 ppm) in only the abscesses. CONCLUSION: The detection of amino acid resonance at 0.9 ppm at in vivo 1H MR spectroscopy (136-msec TE) is a promising tool for distinguishing bacterial abscesses and cystic brain tumors.