scholarly journals Fabry-Stroke Italian Registry (FSIR): a nationwide, prospective, observational study about incidence and characteristics of Fabry-related stroke in young-adults. Presentation of the study protocol

2021 ◽  
Author(s):  
Ilaria Romani ◽  
Patrizia Nencini ◽  
Cristina Sarti ◽  
Giovanni Pracucci ◽  
Marialuisa Zedde ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Disease Diagnosis ◽  
European Population ◽  
University Hospital ◽  
Stroke Recurrence ◽  
Cerebrovascular Event ◽  
Systematic Screening ◽  
Adult Age ◽  
Screening Programs ◽  
Stroke In Young Adults

Abstract Background TIA and stroke, both ischemic and hemorrhagic, may complicate Fabry disease at young-adult age and be the first manifestation that comes to the clinician’s attention. No definite indications have yet been elaborated to guide neurologists in Fabry disease diagnostics. In current practice, it is usually sought in case of cryptogenic strokes (while Fabry-related strokes can also occur by classical pathogenic mechanisms) or through screening programs in young cerebrovascular populations. Data on recurrence and secondary prevention of Fabry’s stroke are scanty. Methods The study had a prospective observational design involving 33 Italian neurological Stroke Units. Considering the incidence of TIA/stroke in the European population aged < 60 years and the frequency of Fabry disease in this category (as foreseen by a pilot study held at the Careggi University-Hospital, Florence), we planned to screen for Fabry disease a total of 1740 < 60-year-old individuals hospitalized for TIA, ischemic, or hemorrhagic stroke. We investigated TIA and stroke pathogenesis through internationally validated scales and we gathered information on possible early signs of Fabry disease among all cerebrovascular patients. Every patient was tested for Fabry disease through dried blood spot analysis. Patients who received Fabry disease diagnosis underwent a 12-month follow-up to monitor stroke recurrence and multi-system progression after the cerebrovascular event. Discussion The potential implications of this study are as follows: (i) to add information about the yield of systematic screening for Fabry disease in a prospective large cohort of acute cerebrovascular patients; (ii) to deepen knowledge of clinical, pathophysiological, and prognostic characteristics of Fabry-related stroke.

scholarly journals Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults

2017 ◽  
Vol 24 (3) ◽  
pp. e12-e14 ◽  
Author(s):  
L. Poli ◽  
M. Zedde ◽  
A. Zini ◽  
M. Del Sette ◽  
C. Lodigiani ◽  
...  
Keyword(s):  
Young Adults ◽  
Ischaemic Stroke ◽  
Fabry Disease ◽  
Young Age ◽  
Stroke In Young Adults ◽  
Stroke In Young

scholarly journals On-Site Validation of a Microwave Breast Imaging System, before First Patient Study

Diagnostics ◽  
2018 ◽  
Vol 8 (3) ◽  
pp. 53 ◽  
Author(s):  
Angie Fasoula ◽  
Luc Duchesne ◽  
Julio Gil Cano ◽  
Peter Lawrence ◽  
Guillaume Robin ◽  
...  
Keyword(s):  
Breast Imaging ◽  
Imaging System ◽  
Imaging Modality ◽  
Disease Diagnosis ◽  
Operating Conditions ◽  
University Hospital ◽  
Radar Signal ◽  
Clinical Test ◽  
Signal Processing Algorithms ◽  
Microwave Breast Imaging

This paper presents the Wavelia microwave breast imaging system that has been recently installed at the Galway University Hospital, Ireland, for a first-in-human pilot clinical test. Microwave breast imaging has been extensively investigated over the last two decades as an alternative imaging modality that could potentially bring complementary information to state-of-the-art modalities such as X-ray mammography. Following an overview of the main working principles of this technology, the Wavelia imaging system architecture is presented, as are the radar signal processing algorithms that are used in forming the microwave images in which small tumors could be detectable for disease diagnosis. The methodology and specific quality metrics that have been developed to properly evaluate and validate the performance of the imaging system using complex breast phantoms that are scanned at controlled measurement conditions are also presented in the paper. Indicative results from the application of this methodology to the on-site validation of the imaging system after its installation at the hospital for pilot clinical testing are thoroughly presented and discussed. Given that the imaging system is still at the prototype level of development, a rigorous quality assessment and system validation at nominal operating conditions is very important in order to ensure high-quality clinical data collection.

scholarly journals Lipoprotein (a) Levels in Childhood Arterial Ischemic Stroke

2009 ◽  
Vol 16 (2) ◽  
pp. 214-217 ◽  
Author(s):  
Serap Teber ◽  
Gülhis Deda ◽  
Nejat Akar ◽  
Kazım Soylu
Keyword(s):  
Risk Factor ◽  
Ischemic Stroke ◽  
Young Patients ◽  
Control Group ◽  
Healthy Children ◽  
Case Control Studies ◽  
Arterial Ischemic Stroke ◽  
Lipoprotein A ◽  
Screening Programs ◽  
Stroke In Young Adults

Lipoprotein (a) is a cholesterol-rich plasma lipoprotein with a lipid composition similar to that of low-density lipoproteins (LDL). Many prospective and case-control studies identified elevated levels of lipoprotein (a) as a risk factor for premature myocardial infarction and stroke. Elevated lipoprotein (a) has been identified as a genetically determined risk factor for stroke in young adults, but only preliminary data are available on its role as a risk factor for ischemic stroke in infants and children. Fifty two children with arterial ischemic stroke and 78 age- and sex-matched healthy children were studied. Data of this study indicate that 26.9% of children with arterial ischemic stroke had high lipoprotein (a) levels in comparison with the age matched healthy control group. Measurement of lipoprotein (a) should be included in screening programs performed in young patients suffering not only from venous thromboembolism but also arterial ischemic stroke, in addition to other thrombophilic factors.

scholarly journals Trends in the treatment of risk factors for stroke in a Czech stroke unit

Open Medicine ◽  
2015 ◽  
Vol 10 (1) ◽  
Author(s):  
Libor Simunek ◽  
Dagmar Krajickova ◽  
Oldrich Vysata ◽  
Martin Valis
Keyword(s):  
Risk Factors ◽  
Stroke Unit ◽  
Stroke Risk ◽  
Beta Blockers ◽  
University Hospital ◽  
Stroke Recurrence ◽  
Channel Blockers ◽  
Motivation To Change ◽  
The University ◽  
Insulin Use

AbstractThe goal of this study is to evaluate therapeutic trends for several diseases that represent risk factors for stroke. The relative frequency of therapy with compounds that influence the risk factors for stroke was monitored in a group of 3,290 patients who were hospitalised in the Stroke Unit at the University Hospital in Hradec Kralove between 2005 and 2012. For most drugs monitored, the reasons for the significant decrease or increase in use were causes other than the reduction of stroke risk. Despite this finding, the majority of statistically significant changes had, according to review of comparative studies, a posi- tive effect on prevention of stroke. Motivation to change treatment of stroke risk factors, such as hypertension, diabetes mellitus and hypercholesterolemia, was mainly aimed at sufficient disease management with a minimum of adverse effects. On the other hand, optimization of stroke recurrence and economic factors were motivations to treatment changes in prevention with antiplatelets. Antidiabetics were associated with an increase in met- formin use and reduction in insulin use. For antihyperten- sives, the most significant reduction was associated with the use of diuretics, although calcium channel blockers and beta-blockers are also less used. Additionally, the use of the ACE inhibitor ramipril increased

MO294COMPARISON OF TIP AND CELLULAR VARIANT OF PRIMARY FOCAL SEGMENTAL GLOMERULOSCLEROSIS

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Nikola Zagorec ◽  
Ivica Horvatić ◽  
Dino Kasumović ◽  
Petar Šenjug ◽  
Matija Horaček ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Focal Segmental Glomerulosclerosis ◽  
Clinical Features ◽  
Remission Rate ◽  
Prognostic Significance ◽  
European Population ◽  
University Hospital ◽  
Outcome Analysis ◽  
Laboratory Findings ◽  
Segmental Glomerulosclerosis

Abstract Background and Aims After membranous nephropathy, focal segmental glomerulosclerosis (FSGS) is the most common cause of nephrotic syndrome in European population. According to Columbia classification, there are five histological variants of FSGS defined on light microscopy (tip, cellular, perihilar, collapsing and not otherwise specified - NOS) and this classification has a prognostic significance. The aim is to compare features and outcomes of tip and cellular variant of primary FSGS. Method All patients with FSGS were identified by a retrospective review of the Registry of kidney biopsies at the Department of Nephrology and Dialysis, Dubrava University Hospital, Zagreb, from 2003 until 2020. Each kidney specimen was analyzed by light, immunofluorescent and electron microscopy and Columbia classification was applied by experienced nephropathologist. Patients with primary FSGS met following criteria: full nephrotic syndrome and diffuse podocyte foot process effacement in absence of secondary causes of FSGS. Laboratory findings were obtained for every patient at the time of biopsy and following outpatient visits. Complete remission was defined as proteinuria &lt; 0.3 g/day with normal kidney function and partial remission as proteinuria 0.3 - 3.5 g/day. Variables are expressed as median ± IQR (interquartile range) and frequencies. Statistical comparison between groups of patients with tip and cellular variant of primary FSGS and disease outcome analysis were done. Results Out of 200 patients with FSGS, 59 (29.5 %) had primary form of disease. Tip variant was the most common form of primary FSGS (22 patients, 37 %) followed by NOS (20, 34 %), cellular (13, 22 %), perihilar (2, 3.5 %) and collapsing (2, 3.5 %) variant. Demographic and clinical features with initial laboratory findings are shown in Table 1. There were no significant differences between two groups in all analyzed variables in Figure 1. All patients were treated by anti-RAAS agents and steroids. Median follow-up was 55 months (range 1 – 196 months), and followup data were unavailable for three patients. Figure 2 shows treatment regimens in both patient grouos with treatment outcomes. Remission rate was significantly higher in tip variant (90 % vs. 41 %, p = 0.002). There was no difference in relapse rate between the two groups (p = 0.717). Conclusion There were no significant differences in clinical features and laboratory findings at the time of clinical presentation between tip and cellular variant of primary FSGS. Patients with tip variant had significantly higher remission rate than patients with cellular variant.

scholarly journals First Trimester Aneuploidy Screening Program for Preeclampsia Prediction in a Portuguese Obstetric Population

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Cláudia Teixeira ◽  
Eduardo Tejera ◽  
Helena Martins ◽  
António Tomé Pereira ◽  
Altamiro Costa-Pereira ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Late Onset ◽  
Screening Program ◽  
First Trimester ◽  
University Hospital ◽  
Aneuploidy Screening ◽  
Detection Rates ◽  
Crown Rump Length ◽  
Screening Programs ◽  
Obstetric Population

Objective. To evaluate the performance of a first trimester aneuploidy screening program for preeclampsia (PE) prediction in a Portuguese obstetric population, when performed under routine clinical conditions.Materials and Methods. Retrospective cohort study of 5672 pregnant women who underwent routine first trimester aneuploidy screening in a Portuguese university hospital from January 2009 to June 2013. Logistic regression-based predictive models were developed for prediction of PE based on maternal characteristics, crown-rump length (CRL), nuchal translucency thickness (NT), and maternal serum levels of pregnancy-associated plasma protein-A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (freeβ-hCG).Results. At a false-positive rate of 5/10%, the detection rate for early-onset (EO-PE) and late-onset (LO-PE) PE was 31.4/45.7% and 29.5/35.2%, respectively. Although both forms of PE were associated with decreased PAPP-A, logistic regression analysis revealed significant contributions from maternal factors, freeβ-hCG, CRL, and NT, but not PAPP-A, for prediction of PE.Conclusion. Our findings support that both clinical forms of EO-PE and LO-PE can be predicted using a combination of maternal history and biomarkers assessed at first trimester aneuploidy screening. However, detection rates were modest, suggesting that models need to be improved with additional markers not included in the current aneuploidy screening programs.

The impact of fever and dystermia in Fabry disease diagnosis: A retrospective analysis

2016 ◽  
Vol 117 (2) ◽  
pp. S77
Author(s):  
Raffaele Manna ◽  
Daniela Antuzzi ◽  
Roberta Ricci ◽  
Claudio Feliciani ◽  
Donato Rigante ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Retrospective Analysis ◽  
Disease Diagnosis ◽  
The Impact

scholarly journals Intracranial Vertebrobasilar Calcification in Patients with Ischemic Stroke Is a Predictor of Recurrent Stroke, Vascular Disease, and Death: A Case-Control Study

2020 ◽  
Vol 17 (6) ◽  
pp. 2013
Author(s):  
Jožef Magdič ◽  
Nino Cmor ◽  
Matevž Kaube ◽  
Tanja Hojs Fabjan ◽  
Larissa Hauer ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Vascular Disease ◽  
Recurrent Stroke ◽  
Case Control ◽  
University Hospital ◽  
Stroke Recurrence ◽  
Vascular Events ◽  
Vertebrobasilar Artery ◽  
The Impact

Intracranial artery calcification can be detected on nonenhanced brain computer tomography (NECT) and is a predictor of early vascular events. Here, we assessed the impact of vertebrobasilar artery calcification (VBC) on the long-term risk for recurrent stroke and vascular events. We performed a case-control trial of all consecutive stroke patients admitted to the University Hospital of Maribor, Slovenia over a period of 14 months. VBC was defined as presence of a hyperdense area within vertebrobasilar arteries that exceeds > 90 Hounsfield units as seen on NECT. Clinical follow-up information was obtained from the hospital documentation system and mortality registry of the district and included recurrent stroke, subsequent vascular events (myocardial infarction, heart failure, peripheral arterial occlusive disease), and death. We followed a total of 448 patients for a median of 1505 days (interquartile range, IQR 188-2479). Evidence for VBC was present in 243 (54.2%) patients. Median age was 76 years, recurrent stroke occurred in 33 (7.4%), any vascular events in 71 (15.8%), and death in 276 (61.6%). VBC was associated with a higher risk of recurrent stroke (hazard ratio, HR 3.13, 95% confidence interval (CI 1.35–7.20)) and vascular events (HR 2.05, 95% CI 1.21–3.47). Advanced age, male gender, and ischemic stroke involving the entire anterior circulation raised the likelihood for death. We conclude that the presence of VBC in patients with ischemic stroke is a short- and long-term prognostic factor for stroke recurrence and subsequent manifestation of acute vascular disease. Further understanding of the pathophysiology of VBC is warranted.

scholarly journals 1204. The Effect of Coinfection with Babesiosis and Lyme Disease on Novel Biomarkers

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S623-S624
Author(s):  
Michael D Lum ◽  
Kelsey Reardon ◽  
Rachel Spector ◽  
Evan Garry ◽  
Aikaterini Papamanoli ◽  
...  
Keyword(s):  
Lyme Disease ◽  
White Blood Cells ◽  
Clinical Manifestations ◽  
Peripheral Blood Smear ◽  
Disease Diagnosis ◽  
University Hospital ◽  
Babesia Microti ◽  
Indirect Bilirubin ◽  
Cdc Guidelines ◽  
Novel Biomarkers

Abstract Background Current literature presents conflicting results regarding the clinical manifestations of coinfection with Babesia microti (Babesiosis) and Borrelia burgdorferi (Lyme disease). The aim of this study is to investigate the effect that coinfection with Babesiosis and Lyme Disease has on standard and novel biomarkers markers such as C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and procalcitonin (Pc), which may assist in elucidating how these pathogens interact within human hosts. Methods Babesia cases were collected from Stony Brook University Hospital from 2012 to 2019. Cases of Babesia were included if parasites were detected by peripheral blood smear and confirmed by PCR. Lyme disease diagnosis criteria involved 2-tier testing per CDC guidelines. Cases were divided into three cohorts based on if they had CRP, ESR or Pc tested. Cohorts were divided into two groups: Babesiosis alone vs coinfection with Lyme Disease. Median values were analyzed for the following biomarkers across both groups: parasitemia, hemoglobin (Hgb), white blood cells (WBC), platelets, indirect bilirubin (IB), lactate dehydrogenase, ESR, CRP and Pc. Fisher Exact and Wilcoxon Rank sum tests were used and P values &lt; 0.05 were considered statistically significant. Results ESR values trended higher in monoinfection compared to coinfection (50 vs 36 mm/hr, p=0.63). Within this cohort, the coinfection group had significantly lower platelet values compared to monoinfection (52 vs. 75.5 K/uL, p=0.04, Table 1). Within the CRP and Pc cohorts, monoinfection had higher trends of parasitemia compared to coinfection (CRP group: 1.6 vs 0.7%, p=0.14, Pc group: 1.4 vs 0.7% p=1.0, Table 2&3). Pc levels were similar in both groups (1.1 vs 1.2 ng/mL, p=1.0, Table 3). Table 1: Demographics and Biomarkers for Patients with Babesiosis Monoinfection vs. Coinfection with Babesiosis and Lyme Disease that had ESR Measured. Table 2: Demographics and Biomarkers for Patients with Babesiosis Monoinfection vs. Coinfection with Babesiosis and Lyme Disease that had CRP Measured. Table 3: Demographics and Biomarkers for Patients with Babesiosis Alone vs Coinfection with Babesiosis and Lyme Disease that had Procalcitonin Measured. Conclusion Coinfection had significantly lower platelets within the ESR cohort but not in other cohorts. While not statistically significant, monoinfection showed greater trends of ESR and parasitemia, which is consistent with previous studies that suggest that B. burgdorferi may mitigate the effects of B. microti infection. CRP and Pc levels were similar across both groups suggesting that the utility of using novel biomarkers to elucidate the interaction between B. burgdorferi and B. microti during simultaneous infection requires further study. Disclosures All Authors: No reported disclosures

scholarly journals Fabry disease: Diagnosis and treatment

2003 ◽  
Vol 63 ◽  
pp. S181-S185 ◽  
Author(s):  
Frank Breunig ◽  
Frank Weidemann ◽  
Meinrad Beer ◽  
Andreas Eggert ◽  
Vera Krane ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Disease Diagnosis ◽  
Diagnosis And Treatment
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