scholarly journals SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS

Blood ◽  
2020 ◽  
Vol 136 (2) ◽  
pp. 157-170 ◽  
Author(s):  
Luca Malcovati ◽  
Kristen Stevenson ◽  
Elli Papaemmanuil ◽  
Donna Neuberg ◽  
Rafael Bejar ◽  
...  
Keyword(s):  
Working Group ◽  
Large Body ◽  
Subsequent Development ◽  
Good Prognosis ◽  
World Health ◽  
Lymphoid Tissues ◽  
Data Set ◽  
International Working Group ◽  
Disease Subtype ◽  
Health Organization

Abstract The 2016 revision of the World Health Organization classification of tumors of hematopoietic and lymphoid tissues is characterized by a closer integration of morphology and molecular genetics. Notwithstanding, the myelodysplastic syndrome (MDS) with isolated del(5q) remains so far the only MDS subtype defined by a genetic abnormality. Approximately half of MDS patients carry somatic mutations in spliceosome genes, with SF3B1 being the most commonly mutated one. SF3B1 mutation identifies a condition characterized by ring sideroblasts (RS), ineffective erythropoiesis, and indolent clinical course. A large body of evidence supports recognition of SF3B1-mutant MDS as a distinct nosologic entity. To further validate this notion, we interrogated the data set of the International Working Group for the Prognosis of MDS (IWG-PM). Based on the findings of our analyses, we propose the following diagnostic criteria for SF3B1-mutant MDS: (1) cytopenia as defined by standard hematologic values, (2) somatic SF3B1 mutation, (3) morphologic dysplasia (with or without RS), and (4) bone marrow blasts <5% and peripheral blood blasts <1%. Selected concomitant genetic lesions represent exclusion criteria for the proposed entity. In patients with clonal cytopenia of undetermined significance, SF3B1 mutation is almost invariably associated with subsequent development of overt MDS with RS, suggesting that this genetic lesion might provide presumptive evidence of MDS in the setting of persistent unexplained cytopenia. Diagnosis of SF3B1-mutant MDS has considerable clinical implications in terms of risk stratification and therapeutic decision making. In fact, this condition has a relatively good prognosis and may respond to luspatercept with abolishment of the transfusion requirement.

Risk Factor Identification, Classification and Prediction Summary of Chronic Kidney Disease

2020 ◽  
Vol 13 ◽  
Author(s):  
Pramila Arulanthu ◽  
Eswaran Perumal
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Disease Diagnosis ◽  
Medical Data ◽  
Machine Learning Algorithms ◽  
World Health ◽  
Medical Field ◽  
Data Set ◽  
Medical Issues ◽  
Health Organization

: The medical data has an enormous quantity of information. This data set requires effective classification for accurate prediction. Predicting medical issues is an extremely difficult task in which Chronic Kidney Disease (CKD) is one of the major unpredictable diseases in medical field. Perhaps certain medical experts do not have identical awareness and skill to solve the issues of their patients. Most of the medical experts may have underprivileged results on disease diagnosis of their patients. Sometimes patients may lose their life in nature. As per the Global Burden of Disease (GBD-2015) study, death by CKD was ranked 17th place and GBD-2010 report 27th among the causes of death globally. Death by CKD is constituted 2·9% of all death between the year 2010 and 2013 among people from 15 to 69 age. As per World Health Organization (WHO-2005) report, 58 million people expired by CKD. Hence, this article presents the state of art review on Chronic Kidney Disease (CKD) classification and prediction. Normally, advanced data mining techniques, fuzzy and machine learning algorithms are used to classify medical data and disease diagnosis. This study reviews and summarizes many classification techniques and disease diagnosis methods presented earlier. The main intention of this review is to point out and address some of the issues and complications of the existing methods. It is also attempts to discuss the limitations and accuracy level of the existing CKD classification and disease diagnosis methods.

scholarly journals Extracranial metastases in secondary glioblastoma multiforme: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jessica Rossi ◽  
Lucia Giaccherini ◽  
Francesco Cavallieri ◽  
Manuela Napoli ◽  
Claudio Moratti ◽  
...  
Keyword(s):  
Brain Lesion ◽  
Rare Event ◽  
Subsequent Development ◽  
World Health ◽  
Who Grade ◽  
Systemic Involvement ◽  
Grade Ii ◽  
The Stability ◽  
Health Organization ◽  
Extracranial Metastases

Abstract Background Glioblastoma (GBM) is known for its devastating intracranial infiltration and its unfavorable prognosis, while extracranial involvement is a very rare event, more commonly attributed to IDH wild-type (primary) GBM evolution. Case presentation We present a case of a young woman with a World Health Organization (WHO) grade II Astrocytoma evolved to WHO grade IV IDH mutant glioblastoma, with subsequent development of lymphatic and bone metastases, despite the favorable biomolecular pattern and the stability of the primary brain lesion. Conclusions Our case highlights that grade II Astrocytoma may evolve to a GBM and rarely lead to a secondary metastatic diffusion, which can progress quite rapidly; any symptoms referable to a possible systemic involvement should be carefully investigated.

Enhancing Collaboration during Humanitarian Response: An Interim Report from Stakeholders Survey

2007 ◽  
Vol 22 (5) ◽  
pp. 414-417 ◽  
Author(s):  
Shivani Parmar ◽  
Ano Lobb ◽  
Susan Purdin ◽  
Sharon McDonnell
Keyword(s):  
Working Group ◽  
Evidence Base ◽  
Lessons Learned ◽  
World Health ◽  
Interim Report ◽  
Structured Interviews ◽  
Humanitarian Response ◽  
Non Governmental Organizations ◽  
Health Organization ◽  
Coordination And Collaboration

AbstractThe effectiveness of humanitarian response efforts has long been hampered by a lack of coordination among responding organizations. The need for increased coordination and collaboration, as well as the need to better understand experiences with coordination, were recognized by participants of a multilateral Working Group convened to examine the challenges of coordination in humanitarian health responses. This preliminary study is an interim report of an ongoing survey designed by the Working Group to describe the experiences of coordination and collaboration in greater detail, including factors that promote or discourage coordination and lessons learned, and to determine whether there is support for a new consortium dedicated to coordination. To date, 30 key informants have participated in 25-minute structured interviews that were recorded and analyzed for major themes. Participants represented 21 different agencies and organizations: nine non-governmental organizations, eight academic institutions, two donor organizations, the US Centers for Disease Control and Prevention, and the World Health Organization.Common themes that emerged included the role of donors in promoting coordination, the need to build an evidence base, the frequent occurrence of field-level coordination, and the need to build new partnerships. Currently, there is no consensus that a new consortium would be helpful.Addressing the underlying structural and professional factors that currently discourage coordination may be a more effective method for enhancing coordination during humanitarian responses.

Comparativa de modelos multivariados basados en aprendizaje automático para la predicción del riesgo de diabetes en etapas tempranas

2021 ◽  
Author(s):  
◽  
Zayra Ramírez Gaytán
Keyword(s):  
World Health ◽  
Degenerative Diseases ◽  
Decision Tree Algorithm ◽  
Data Set ◽  
The World ◽  
Long Time ◽  
Life Threatening ◽  
Health Organization ◽  
Logistic Regression Algorithm ◽  
Asymptomatic Phase

Diabetes is one of the fastest-growing, life-threatening, chronic degenerative diseases. According to the World Health Organization (WHO), it has affected 422 million people worldwide in 2018. Approximately 50% of all people who suffer diabetes are not diagnosed due to the asymptomatic phase which usually lasts a long time. In this work, a data set of 520 instances has been used. The data set has been analyzed with the next three algorithms: logistic regression algorithm, decision trees and random forest. The results show that the decision tree algorithm had better performance with an AUC of 98%. Also, it was found the most common symptoms that a person with a risk of diabetes presents are polyuria, polydipsia and sudden weight loss.

scholarly journals OVERVIEW ON ASSOCIATION OF DIFFERENT TYPES OF LEUKEMIAS WITH RADIATION EXPOSURE

2015 ◽  
Vol 37 (2) ◽  
pp. 89-93 ◽  
Author(s):  
D F Gluzman ◽  
L M Sklyarenko ◽  
M Zavelevich ◽  
S V Koval ◽  
T Ivanivskaya ◽  
...  
Keyword(s):  
Radiation Exposure ◽  
Hematological Malignancies ◽  
Causative Factor ◽  
World Health ◽  
Lymphoid Tissues ◽  
Different Types ◽  
Large Populations ◽  
Precise Diagnosis ◽  
Health Organization

Exposure to ionizing radiation is associated with increasing risk of various types of hematological malignancies. The results of major studies on association of leukemias and radiation exposure of large populations in Japan and in Ukraine are analyzed. The patterns of different types of leukemia in 295 Chernobyl clean-up workers diagnosed according to the criteria of up-to-date World Health Organization classification within 10–25 years following Chernobyl catastrophe are summarized. In fact, a broad spectrum of radiation-related hematological malignancies has been revealed both in Life Span Study in Japan and in study of Chernobyl clean-up workers in Ukraine. The importance of the precise diagnosis of tumors of hematopoietic and lymphoid tissues according to up-to-date classifications for elucidating the role of radiation as a causative factor of leukemias is emphasized. Such studies are of high importance since according to the recent findings, radiation-associated excess risks of several types of leukemias seem to persist throughout the follow-up period up to 55 years after the radiation exposure.

scholarly journals Estimates of mortality rates in people with diabetes and cardiovascular disease using administrative pharmaceutical data

2019 ◽  
Vol 4 (3) ◽  
Author(s):  
Shaun Purkiss ◽  
Tessa Keegel ◽  
Hassan Vally ◽  
Dennis Wollersheim
Keyword(s):  
Cardiovascular Disease ◽  
Mortality Risk ◽  
Age Groups ◽  
Mortality Rates ◽  
World Health ◽  
Data Set ◽  
Medication Discontinuation ◽  
Disease Mortality ◽  
Health Organization

BackgroundQuantifying the mortality risk for people with diabetes is challenging because of associated comorbidities. The recording of cause specific mortality from accompanying cardiovascular disease in death certificate notifications has been considered to underestimate the overall mortality risk in persons with diabetes. Main AimDevelop a technique to quantify mortality risk from pharmaceutical administrative data and apply it to persons diagnosed with diabetes, and associated cardiovascular disease and dyslipidaemia before death. MethodsPersons with diabetes, cardiovascular disease and dyslipidaemia were identified in a publicly available Australian Pharmaceutical data set using World Health Organization anatomic therapeutic codes assigned to medications received. Diabetes associated multi-morbidity cohorts were constructed and a proxy mortality (PM) event determined from medication and service discontinuation. Estimates of mortality rates were calculated from 2004 for 10 years and compared persons with diabetes alone and associated cardiovascular disease and dyslipidemia. ResultsThis study identified 346,201 individuals within the 2004 calendar year as having received treatments for diabetes (n=51,422), dyslipidaemia (n=169,323) and cardiovascular disease including hypertension (n=280,105). Follow up was 3.3 x 106 person-years. Overall crude PM was 26.1 per 1000 person-years. PM rates were highest in persons with cardiovascular disease and diabetes in combination (47.5 per 100 person years). Statin treatments significantly improved the mortality rates in all persons with diabetes and cardiovascular disease alone and in combination over age groups >44 years (p<.001). Age specific diabetes PM rates using pharmaceutical data correlated well with Australian data from the National Diabetes Service Scheme (r=0.82) ConclusionProxy mortality events calculated from medication discontinuation in persons with chronic conditions can provide an alternative method to estimate disease mortality rates. The technique also allows the assessment of mortality risk in persons with chronic disease multi-morbidity.

Evaluating Percentage-Based Reporting of Glucose-6-Phosphate Dehydrogenase (G6PD) Enzymatic Activity in a National Reference Laboratory: Assessment of Patient Eligibility for Plasmodium vivax Radical Cure Therapy

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S82-S82
Author(s):  
Emilia Calvaresi ◽  
Jonathan Genzen
Keyword(s):  
Normal Activity ◽  
Population Based ◽  
G6pd Activity ◽  
World Health ◽  
Reference Laboratory ◽  
Data Sets ◽  
Radical Cure ◽  
Laboratory Assessment ◽  
Data Set ◽  
Health Organization

Abstract Objectives The World Health Organization recommends measurement of G6PD activity prior to initiation of 8-aminoquinolones for the treatment of P vivax malaria. An estimated 400 million people worldwide have G6PD deficiency, making them susceptible to hemolysis under oxidative stress. A new single-dose therapy (radical cure) for malaria with tafenoquine is contraindicated in patients with <70% normal G6PD activity due to its prolonged circulating half-life. However, most clinical laboratories report G6PD activity in units g/Hb or units/1012 RBC and do not provide percentage of normal activity, making potential eligibility determination challenging. Methods Using an IRB-exempt protocol, a limited data set of consecutive G6PD quantitative results was retrieved from the clinical laboratory’s enterprise data warehouse. Laboratory testing of these specimens was previously performed at 37°C using an automated enzymatic assay (Pointe Scientific) configured on a cobas c501 chemistry analyzer (Roche Diagnostics). Data were assembled to include adults age 18 to 89 years and excluded repeat results from the same patients as well as outliers. Conclusion The final data set included 52,216 results (female, 55.9%, n = 29,173; male, 44.1%, n = 23,043) from 47 US states. An adjusted male median (100% G6PD activity) was derived using an approach proposed by the Bangkok Workshop guidelines (Domingo et al., Malaria Journal, 2013), modified to more accurately differentiate bimodal peaks in population G6PD histograms. The laboratory-specific, adjusted male median was 12.7 U g/Hb and was similar to peak values derived from alternative curve-fitting approaches. Applying this median to gender-specific data sets, 5.4% of males and 3.8% of females were found to have <70% of normal activity (<8.9 U g/Hb). This study demonstrates the feasibility of percentage-based G6PD result reporting in adults; further studies will query percentage-based reporting in pediatric populations. Population-based medians will vary based on G6PD assay type and temperature and should be established by laboratories prior to percentage-based reporting.

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