scholarly journals Cerebral stroke in a teenage girl with paroxysmal nocturnal hemoglobinuria

2017 ◽  
Vol 9 (2) ◽  
Author(s):  
Francesco Gervasi ◽  
Lucia D’Amelio ◽  
Antonino Trizzino ◽  
Fabrizia Ferraro ◽  
Delia Russo ◽  
...  
Keyword(s):  
Paroxysmal Nocturnal Hemoglobinuria ◽  
White Blood Cells ◽  
Macrocytic Anemia ◽  
High Sensitivity ◽  
Blood Analysis ◽  
Cerebral Stroke ◽  
Fast Recovery ◽  
Intravenous Therapy ◽  
Ischemic Lesion ◽  
Cerebral Arterial Thrombosis

We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children’s hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g/dL) with negative Coombs test, mild leucopenia (white blood cells 4.9×109/L) and thrombocytopenia (platelets 97×109/L) and high values of lactate dehydrogenase (2855 U/L) were identified; a packed red cells transfusion was administered. Her condition worsened and she subsequently presented complete right hemiplegia, aphasia and coma; magnetic resonance imaging revealed a massive ischemic lesion. A diagnosis of PNH was eventually made following high sensitivity flow cytometry, which identified a PNH clone (CD66b negative equal to 93.7% of granulocytes). Fast recovery from neurologic and hematological problems occurred in response to anticoagulant therapy and intravenous therapy with eculizumab. We are convinced that PNH should be included in the differential diagnosis of children presenting with cytopenia.

scholarly journals Functional brain network modeling in sub-acute stroke patients and healthy controls during rest and continuous attentive tracking

2019 ◽  
Author(s):  
Erlend S. Dørum ◽  
Tobias Kaufmann ◽  
Dag Alnæs ◽  
Geneviève Richard ◽  
Knut K. Kolskår ◽  
...  
Keyword(s):  
Brain Function ◽  
Repeated Measures ◽  
High Sensitivity ◽  
Brain Regions ◽  
Brain Network ◽  
System Level ◽  
Cerebral Stroke ◽  
Significant Group ◽  
Functional Brain Network ◽  
Regularized Linear Discriminant Analysis

AbstractA cerebral stroke is characterized by compromised brain function due to an interruption in cerebrovascular blood supply. Although stroke incurs focal damage determined by the vascular territory affected, clinical symptoms commonly involve multiple functions and cognitive faculties that are insufficiently explained by the focal damage alone. Functional connectivity (FC) refers to the synchronous activity between spatially remote brain regions organized in a network of interconnected brain regions. Functional magnetic resonance imaging (fMRI) has advanced this system-level understanding of brain function, elucidating the complexity of stroke outcomes, as well as providing information useful for prognostic and rehabilitation purposes.We tested for differences in brain network connectivity between a group of patients with minor ischemic strokes in sub-acute phase (n=44) and matched controls (n=100). As neural network configuration is dependent on cognitive effort, we obtained fMRI data during rest and two load levels of a multiple object tacking (MOT) task. Network nodes and time-series were estimated using independent component analysis (ICA) and dual regression, with network edges defined as the partial temporal correlations between node pairs. The full set of edgewise FC went into a cross-validated regularized linear discriminant analysis (rLDA) to classify groups and cognitive load.MOT task performance and cognitive tests revealed no significant group differences. While multivariate machine learning revealed high sensitivity to experimental condition, with classification accuracies between rest and attentive tracking approaching 100%, group classification was at chance level, with negligible differences between conditions. Repeated measures ANOVA showed significantly stronger synchronization between a temporal node and a sensorimotor node in patients across conditions. Overall, the results revealed high sensitivity of FC indices to task conditions, and suggest relatively small brain network-level disturbances after clinically mild strokes.

P901 Left ventricular diastolic and systolic functions are compromised in patients with hypothyroidism

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
R Tafarshiku ◽  
M Y Henein ◽  
V Berisha-Muharremi ◽  
I Bytyci ◽  
P Ibrahimi ◽  
...  
Keyword(s):  
Diastolic Function ◽  
Systolic Function ◽  
White Blood Cells ◽  
Left Ventricular ◽  
Blood Analysis ◽  
Lv Function ◽  
Anthropometric Parameters ◽  
Age And Gender ◽  
And Gender ◽  
Lv Diastolic Function

Abstract Background and Aim Long standing hypothyroidism may impair myocardial relaxation, but its effect on systolic myocardial function is still controversial. The aim of this study was to investigate left ventricular (LV) systolic and diastolic function in patients with hypothyroidism. Methods This study included 81 (age 42 ± 13 years, 92% female) patients with hypothyroidism, and 22 age and gender matched controls. All subjects underwent a detailed clinical examination followed by a complete biochemical blood analysis including thyroid function assessment and anthropometric parameters measurements. LV function was assessed by 2 dimensional, M-mode and Tissue-Doppler Doppler echocardiographic examination performed in the same day. Results Patients had lower waist/hip ratio (p < 0.001), higher urea level (p = 0.002) and lower white blood cells (p = 0.011), compared to controls. All other clinical, biochemical and anthropometric data did not differ between the two groups. Patients had impaired LV diastolic function (lower E wave [p < 0.001], higher A wave [p = 0.028], lower E/A ratio [p < 0.001], longer E wave deceleration time [p = 0.01], and higher E/e’ ratio [p < 0.001]), compared with controls. Although LV global systolic function did not differ between groups, LV longitudinal systolic function was compromised in patients (lateral mitral annular plane systolic excursion - MAPSE [p = 0.005], as were lateral and septal TDI s’ [p < 0.001 for both]). Conclusion In patients with hypothyroidism, in addition to compromised LV diastolic function, LV longitudinal systolic function is also impaired compared to healthy subjects of the same age and gender. These findings suggest significant subendocardial function impairment, reflecting potentially micro-circulation disease, that requires optimum management.

scholarly journals Technical advances in flow cytometry-based diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria

2016 ◽  
Vol 14 (3) ◽  
pp. 366-373 ◽  
Author(s):  
Rodolfo Patussi Correia ◽  
Laiz Cameirão Bento ◽  
Ana Carolina Apelle Bortolucci ◽  
Anderson Marega Alexandre ◽  
Andressa da Costa Vaz ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Retrospective Study ◽  
Paroxysmal Nocturnal Hemoglobinuria ◽  
Laboratory Data ◽  
High Sensitivity ◽  
Laboratory Diagnosis ◽  
Clone Detection ◽  
Technical Advances ◽  
Sensitive Determination

ABSTRACT Objective: To discuss the implementation of technical advances in laboratory diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria for validation of high-sensitivity flow cytometry protocols. Methods: A retrospective study based on analysis of laboratory data from 745 patient samples submitted to flow cytometry for diagnosis and/or monitoring of paroxysmal nocturnal hemoglobinuria. Results: Implementation of technical advances reduced test costs and improved flow cytometry resolution for paroxysmal nocturnal hemoglobinuria clone detection. Conclusion: High-sensitivity flow cytometry allowed more sensitive determination of paroxysmal nocturnal hemoglobinuria clone type and size, particularly in samples with small clones.

scholarly journals Biomarkers Predict In-Hospital Major Adverse Cardiac Events in COVID-19 Patients: A Multicenter International Study

2021 ◽  
Vol 10 (24) ◽  
pp. 5863
Author(s):  
Michael Y. Henein ◽  
Giulia Elena Mandoli ◽  
Maria Concetta Pastore ◽  
Nicolò Ghionzoli ◽  
Fouhad Hasson ◽  
...  
Keyword(s):  
Renal Failure ◽  
Acute Myocarditis ◽  
White Blood Cells ◽  
Composite Endpoint ◽  
High Sensitivity ◽  
Systemic Hypertension ◽  
Chronic Obstructive ◽  
Imaging Data ◽  
Cardiac Events ◽  
Cardiocirculatory Arrest

Background: The COVID-19 pandemic carries a high burden of morbidity and mortality worldwide. We aimed to identify possible predictors of in-hospital major cardiovascular (CV) events in COVID-19. Methods: We retrospectively included patients hospitalized for COVID-19 from 10 centers. Clinical, biochemical, electrocardiographic, and imaging data at admission and medications were collected. Primary endpoint was a composite of in-hospital CV death, acute heart failure (AHF), acute myocarditis, arrhythmias, acute coronary syndromes (ACS), cardiocirculatory arrest, and pulmonary embolism (PE). Results: Of the 748 patients included, 141(19%) reached the set endpoint: 49 (7%) CV death, 15 (2%) acute myocarditis, 32 (4%) sustained-supraventricular or ventricular arrhythmias, 14 (2%) cardiocirculatory arrest, 8 (1%) ACS, 41 (5%) AHF, and 39 (5%) PE. Patients with CV events had higher age, body temperature, creatinine, high-sensitivity troponin, white blood cells, and platelet counts at admission and were more likely to have systemic hypertension, renal failure (creatinine ≥ 1.25 mg/dL), chronic obstructive pulmonary disease, atrial fibrillation, and cardiomyopathy. On univariate and multivariate analysis, troponin and renal failure were associated with the composite endpoint. Kaplan–Meier analysis showed a clear divergence of in-hospital composite event-free survival stratified according to median troponin value and the presence of renal failure (Log rank p < 0.001). Conclusions: Our findings, derived from a multicenter data collection study, suggest the routine use of biomarkers, such as cardiac troponin and serum creatinine, for in-hospital prediction of CV events in patients with COVID-19.

204 Blood Analysis of Cas9-Expressing Cattle

2018 ◽  
Vol 30 (1) ◽  
pp. 242
Author(s):  
S.-Y. Yum ◽  
S.-J. Lee ◽  
S.-E. Hahn ◽  
C.-I. Lee ◽  
H.-S. Kim ◽  
...  
Keyword(s):  
Blood Cells ◽  
Gene Editing ◽  
White Blood Cells ◽  
Blood Analysis ◽  
Health Issues ◽  
Blood Samples ◽  
Vitro Fertilization ◽  
Transgenic Cattle ◽  
Near Future

The CRISPR/Cas9 system has proved to be a powerful tool for knockout and knock-in in various species. When 2 components—Cas9 and single guide (sg)RNA—are delivered into cells or embryos, the events of gene editing occur. Because Cas9 is essential for gene editing in the CRISPR/Cas9 system, some studies have reported the production of Cas9-expressing animals, such as mice, which could be used to increase gene editing efficiency in subsequent experiments. In previous reports, we successfully produced 4 Cas9-expressing cattle via microinjection (Hahn et al. 2016 Reprod. Fertil. Dev. 29, 211). Primary cells from these calves had Cas9 activity because transfection of only sgRNA resulted in gene deletion. The aim of this study was to analyse the blood of the transgenic cattle to investigate the effect of Cas9 expression on health. Two of 4 transgenic calves died; one had severe ruminant tympany, failed to respond to treatment, and died at 4 months of age, and the other died at 5 months of age due to accidental ingestion of a needle from a feed bunk. Blood samples were obtained from the surviving 2 transgenic cattle (1 male and 1 female) at 7 and 12 months for blood analysis. Five milliliters of whole blood samples was collected from the jugular vein. Portions were used for CBC (Hemavet 950, Drew Scientific, Miami Lakes, FL, USA) and for serum chemistry analysis (BS-400, Mindray, Shenzhen, China). Average values for white blood cells (9600 and 1057/mm3), neutrophils (4590 and 3870/mm3), lymphocytes (4020 and 5910/mm3), red blood cells (732,000 and 798,000/mm3), hemoglobin (9.5 and 10.2 g dL−1), packed cell volume (24.3 and 25.3%), platelet (439,000 and 327,500/mm3), AST (76 and 104 IU), ALP (140 and 133 IU), BUN (7.5 and 10.5 mg dL−1), and creatinine (1.3 and 1.0 mg dL−1) of male and female transgenic calves were within the reference range. Additionally, there was no difference in general health information, including body temperature and feeding. In conclusion, we demonstrated that continuous Cas9 expression in transgenic cattle did not affect health status of the surviving calves in terms of blood analysis. They have grown up without any health issues and are currently 14 (female) and 15 (male) months old. In the near future, we will evaluate their germline transmission by natural breeding or in vitro fertilization. This work was supported by BK21 PLUS Program for Creative Veterinary Science, NRF (NRF-2017R1A2B3004972), and Seoul Milk Coop (SNU 550–20160004).

Sign in / Sign up

Export Citation Format

Share Document