scholarly journals Pre-fibrotic/early primary myelofibrosis vs. WHO-defined essential thrombocythemia: The impact of minor clinical diagnostic criteria on the outcome of the disease

2017 ◽  
Vol 92 (9) ◽  
pp. 885-891 ◽  
Author(s):  
Georg Jeryczynski ◽  
Jürgen Thiele ◽  
Bettina Gisslinger ◽  
Albert Wölfler ◽  
Martin Schalling ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Essential Thrombocythemia ◽  
Primary Myelofibrosis ◽  
Clinical Diagnostic ◽  
Early Primary ◽  
The Impact ◽  
Clinical Diagnostic Criteria

Essential thrombocythemia versus early primary myelofibrosis: a multicenter study to validate the WHO classification

Blood ◽  
2011 ◽  
Vol 117 (21) ◽  
pp. 5710-5718 ◽  
Author(s):  
Jürgen Thiele ◽  
Hans Michael Kvasnicka ◽  
Leonhard Müllauer ◽  
Veronika Buxhofer-Ausch ◽  
Bettina Gisslinger ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Essential Thrombocythemia ◽  
Survival Data ◽  
Primary Myelofibrosis ◽  
Clinical Findings ◽  
World Health ◽  
And Gender ◽  
Early Primary ◽  
Health Organization ◽  
The Impact

AbstractControversy persists regarding the role of histopathology in the distinction between essential thrombocythemia (ET) and early-prefibrotic primary myelofi-brosis (PMF) presenting with thrombocythemia. To investigate the impact and reproducibility of bone marrow (BM) morphology according to the World Health Organization classification, 295 patients with the presumptive clinical diagnosis of either ET or early PMF were studied. Data of this cohort (Vienna group) were compared with 732 corresponding patients (Cologne group). Evaluating blindly (only age and gender known) BM specimens, the 2 groups of pathologists achieved an overall consensus of 78% regarding the total series and 88% concerning the discrimination between ET versus PMF. In 126 ET and 81 early PMF patients without pretreatment and complete documentation, a 90% concordance with the independently established clinical diagnosis was found. In 12 patients, overlapping of histopathology and some clinical findings between ET and polycythemia vera occurred. Contrasting ET, early PMF showed significant differences of presenting hematologic data and an unfavorable prognosis (estimated mean survival, 14 vs 21 years). Comparison of clinical and survival data of the Vienna cohort with the historical Cologne series revealed an overall congruence. This study highlights the impact of BM morphology for the differentiation between true vs false ET.

scholarly journals Impact of Periodontal Disease on the Quality of Life of Diabetics Based on Different Clinical Diagnostic Criteria

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Aline Mendes Silva de Pinho ◽  
Carolina Marques Borges ◽  
Mauro Henrique Nogueira Guimarães de Abreu ◽  
Efigênia Ferreira e Ferreira ◽  
Andréa Maria Duarte Vargas
Keyword(s):  
Quality Of Life ◽  
Periodontal Disease ◽  
Diagnostic Criteria ◽  
Functional Limitation ◽  
Cross Sectional ◽  
Clinical Diagnostic ◽  
Belo Horizonte ◽  
The Impact ◽  
Clinical Diagnostic Criteria

The aim of this study was to determine the impact of periodontal disease on the quality of life of individuals with diabetes according to different clinical criteria (I-AAP, II-Beck, III-Machtei, IV-Lopez, V-Albandar, VI-Tonetti, and VII-CPI). This cross-sectional study sampled 300 individuals in Belo Horizonte, Brazil. The Oral Health Impact Profile was used to measure the impact of periodontal disease on quality of life. Prevalence of periodontal disease was 35.3%, 30.7%, 35.0%, 9.7%, 92.3%, 25.3%, and 75.3% using criteria I, II, III, IV, V, VI, and VII, respectively. The III-Machtei (P=0.043) and IV-Lopez (P<0.001) criteria were associated with OHIP-14; functional limitation was associated with IV-Lopez (P=0.006) and V-Albandar (P=0.018) criteria. Pain was only associated with V-Albandar criteria (P<0.001). Psychological discomfort was associated with the IV-Lopez (P=0.018) criteria. Physical disability was associated with the IV-Lopez (P=0.047) and V-Tonetti (P=0.046) criteria. Being handicapped was associated with the I-AAP (P=0.025) and II-Beck (P=0.041) criteria. Concepts of health and disease determined by clinical diagnostic criteria may influence the assessment of the impact of periodontal disease on diabetics' quality of life.

JAK2V617F-Positive Patients with Essential Thrombocythemia or Early Primary Myelofibrosis: The Impact of Histological Diagnosis on Outcome

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 1614-1614
Author(s):  
Nicola Polverelli ◽  
Roberto Latagliata ◽  
Giuseppe A. Palumbo ◽  
Alessia Tieghi ◽  
Margherita Perricone ◽  
...  
Keyword(s):  
Essential Thrombocythemia ◽  
Primary Myelofibrosis ◽  
Jak2v617f Mutation ◽  
Event Free Survival ◽  
Disease Evolution ◽  
Free Survival ◽  
Mutational Status ◽  
Early Primary ◽  
The Impact

Abstract Introduction It is acknowledged that an accurate histological diagnosis may distinguish Essential Thrombocythemia (ET) from early Primary Myelofibrosis (early-PMF), which is projected to worse outcome in terms of survival and disease evolution into acute leukemia (AL) or overt myelofibrosis (MF). It is also accepted that the outcome of ET is related to the mutational status, with JAK2V617F mutation having a negative impact. In previous analyses, outcome data derived from the admixture of the two variables, histology and mutational status. Here, we present a large cohort of ET/early-PMF patients positive for the JAK2V617F mutation, with the aim to evaluate the impact on outcome of the sole histological definition. Methods A clinic-pathologic database of ET patients followed in four Italian Hematology Centers was created and a total of 475 WHO-diagnosed ET or early-PMF JAK2V617F-positive patients was collected. Bone marrow specimens were performed or reviewed at local institution. Baseline clinical/molecular characteristics and outcome measures (vascular complications, disease transformation/progression, overall and event-free survival) were evaluated. In all patients, JAK2V617F allele-burden was assessed in granulocyte DNA by using ipsogen JAK2 MutaQuant Kit (qPCR). The study was approved by the Ethic Committee of each participating Centers. Results Overall, 329 WHO-defined ET and 146 early-PMF patients positive for the JAK2V617F mutation were included in the study. Median follow-up was 6.6 years (range: 0.5-32.4). Compared to ET patients, early-PMF patients presented with older age (median, 57 versus 53.5yr, p=0.02), lower hemoglobin levels (median, 14.2 versus 14.5 g/dl, p=0.01), higher leukocyte count (median, 10.4 versus 9.5x109/l, p=0.01), and higher incidence of spleen enlargement (35.9% versus 13.9%, p<0.001). JAK2V617F mutation was heterozygous in 90% and 87% of ET and early-PMF patients, respectively (p=0.34). Use of antiplatelet and cytoreductive therapies was also comparable in the two groups. During follow-up, 32 (9.7%) ET and 18 (12.3%) early-PMF patients experienced a total of 59 thrombotic events (arterial: 49%), with an incidence rate of 1,3% patients/yr. The cumulative incidence of thrombosis was 8% and 14% at 5 and 10 years, respectively. Overall, 27 patients (5,6%) and 6 (1.2%) patients evolved to MF and AL, respectively. The cumulative incidence of disease progression into MF/AL was 2% and 5% at 5 and 10 years, respectively. At last contact, 28 (5.8%) patients had died, at a median age of 77.5 years (20-88), for an overall survival of 93.8% at 10 years. In early-PMF compared to ET, the 10-year survival rates (91.6% and 95%, respectively, p=0.75), leukemic transformation rates (6% and 1.2%, respectively, p=0.45) and rates of thrombosis (6.7% and 2.2%, p=0.12) were comparable. However, progression to overt MF at 5 years (4.4% and 0.9%, respectively) and 10 years (11.5% and 1.5%) was significantly worse (p=0.004). Multivariable analysis confirmed this finding and also identified homozygosity for the JAK2V617F mutation (p=0.008) as additional risk factor for disease evolution into secondary MF. The rate of composite outcomes (thrombosis, evolution into overt MF or AL and death) was significantly higher in early-PMF (3.1% vs 2,3% pts/yr) with a combined event-free survival of 69% versus 82% in ET patients at 10 yrs (figure 1). Conclusions. This study eliminates the confounding factor of different molecular status on outcome by focusing on a large cohort of WHO-defined ET/early-PMF patients, all carrying the JAK2V617F mutation. Overall, the study validates the clinical relevance of strict adherence to WHO criteria on prognosis, and particularly on disease progression into secondary MF. Figure 1. Combined event-free survival according to histology Figure 1. Combined event-free survival according to histology Disclosures Palumbo: Novartis: Honoraria, Other: Advisory Board. Martinelli:MSD: Consultancy; BMS: Speakers Bureau; Roche: Consultancy; ARIAD: Consultancy; Novartis: Speakers Bureau; Pfizer: Consultancy.

scholarly journals Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eva Pinti ◽  
Krisztina Nemeth ◽  
Krisztina Staub ◽  
Anna Lengyel ◽  
Gyorgy Fekete ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Neurofibromatosis Type ◽  
Early Years ◽  
Diagnostic Efficiency ◽  
Clinical Criteria ◽  
Pathogenic Variants ◽  
Clinical Diagnostic ◽  
Long Time ◽  
Diagnostic Difficulties ◽  
Clinical Diagnostic Criteria

Abstract Background Neurofibromatosis type 1 (NF1), which is caused by heterozygous inactivating pathogenic variants in the NF1, has poor phenotypic expressivity in the early years of life and there are numerous conditions, including many other tumor predisposition syndromes, that can mimic its appearance. These are collectively termed NF1-like syndromes and are also connected by their genetic background. Therefore, the NF1’s clinical diagnostic efficiency in childhood could be difficult and commonly should be completed with genetic testing. Methods To estimate the number of syndromes/conditions that could mimic NF1, we compiled them through an extensive search of the scientific literature. To test the utility of NF1’s National Institutes of Health (NIH) clinical diagnostic criteria, which have been in use for a long time, we analyzed the data of a 40-member pediatric cohort with symptoms of the NF1-like syndromes’ overlapping phenotype and performed NF1 genetic test, and established the average age when diagnostic suspicion arises. To facilitate timely identification, we compiled strongly suggestive phenotypic features and anamnestic data. Results In our cohort the utility of NF1’s clinical diagnostic criteria were very limited (sensitivity: 80%, specificity: 30%). Only 53% of children with clinically diagnosed NF1 had a detectable NF1 pathogenic variation, whereas 40% of patients without fulfilled clinical criteria tested positive. The average age at first genetic counseling was 9 years, and 40% of children were referred after at least one tumor had already been diagnosed. These results highlight the need to improve NF1-like syndromes’ diagnostic efficiency in childhood. We collected the most extensive spectrum of NF1-like syndromes to help the physicians in differential diagnosis. We recommend the detailed, non-invasive clinical evaluation of patients before referring them to a clinical geneticist. Conclusions Early diagnosis of NF1-like syndromes can help to prevent severe complications by appropriate monitoring and management. We propose a potential screening, diagnostic and management strategy based on our findings and recent scientific knowledge.

scholarly journals MRI is Unnecessary for Diagnosing Acute Achilles Tendon Ruptures: Clinical Diagnostic Criteria

2012 ◽  
Vol 470 (8) ◽  
pp. 2268-2273 ◽  
Author(s):  
David N. Garras ◽  
Steven M. Raikin ◽  
Suneel B. Bhat ◽  
Nicholas Taweel ◽  
Homyar Karanjia
Keyword(s):  
Achilles Tendon ◽  
Diagnostic Criteria ◽  
Clinical Diagnostic ◽  
Tendon Ruptures ◽  
Clinical Diagnostic Criteria

Clinical diagnostic criteria of modern spice addiction

2017 ◽  
Vol 41 (S1) ◽  
pp. s880-s880
Author(s):  
I. Sosin ◽  
Y. Chuev ◽  
G. Misko ◽  
O. Goncharova
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Laboratory ◽  
Psychological Testing ◽  
Synthetic Analogues ◽  
Clinical Diagnostic ◽  
Hoarse Voice ◽  
Sexual Disinhibition ◽  
Competing Interest ◽  
Clinical Diagnostic Criteria

IntroductionPopulations of spice addicts in Ukraine demonstrate distinct tendency for steady spreading, and transitory psychotic episodes, overdosing and fatal cases are being registered in consequence of smoking. “Spice” are synthetic analogues of tetrahydrocannabinol.Aims and objectivesTo develop an average personified clinical portrait of spice addict for more specified therapy.MethodTwelve patients who consumed spices systematically for 1–2 years were observed. Methods of examination: clinical psychopathological, psychological testing, clinical laboratory.ResultsMain spice addiction diagnostic criteria were: Spice smoking, obsessive and uncontrolled anosognosic desire and craving to test on themselves effects of their action, pathognomonic tolerance increase, specific post-intoxication consequences. After the first smoke inspiration heavy intoxication with euphoria and loss of surrounding real perception, sexual disinhibition and craving to repeat smoking manifested after the first smoke inspiration. Then, spice smoking became subjectively pleasant, caused condition of intoxication with increased mood, fussiness, was accompanied with feeling of hunger, thirst, and hoarse voice. In the patients rather quickly (for 2–3 weeks) twice reduced duration of intoxication state from 40 to 20 minutes, loss of situation and quantitative control over smoking was observed. Clinical specifics of addiction for spices smoking is rather quick (from 5 to 10 trials) formation of psychic equivalent of addiction, extremely intensive and emotionally saturated craving for smoking, quick rise of tolerance with loss of situational and quantitative control over smoking.ConclusionsDefinite rules in the development and formation of spice dependence is necessary to be considered while developing programs for therapy and prevention in clinical narcology.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Evaluation of the Diagnostic Criteria for Anti-NMDA Receptor Encephalitis in Japanese Children

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000011789
Author(s):  
Hiroya NISHIDA ◽  
Kuniko KOHYAMA ◽  
Satoko KUMADA ◽  
Jun-ichi TAKANASHI ◽  
Akihisa OKUMURA ◽  
...  
Keyword(s):  
Nmda Receptor ◽  
Diagnostic Criteria ◽  
Predictive Value ◽  
False Positive ◽  
Pediatric Population ◽  
True Positive ◽  
Positive Group ◽  
Nmdar Encephalitis ◽  
Clinical Diagnostic ◽  
Clinical Diagnostic Criteria

OBJECTIVE:To evaluate the validity of the 2016 clinical diagnostic criteria proposed for probable anti-NMDA receptor (NMDAR) encephalitis in children, we tested the criteria in a Japanese pediatric cohort.METHODS:We retrospectively reviewed clinical information of patients with neurological symptoms whose CSF were analyzed for NMDAR antibodies (Abs) in our laboratory from January 1, 2015, to March 31, 2019.RESULTS:Overall, 137 cases were included. Of the 41 cases diagnosed as probable anti-NMDAR encephalitis (“criteria-positive”) according to the 2016 criteria, 13 were positive and 28 were negative for anti-NMDAR Abs. Of the 96 criteria-negative cases, three were positive and 93 were negative for anti-NMDAR Abs. The sensitivity of the criteria was 81.2%, specificity was 76.9%, positive predictive value (PPV) was 31.7%, and negative predictive value was 96.9%. Compared with the true-positive group, the false-positive group contained more male than female patients (male:female, 4:9 in the true-positive vs. 19:9 in the false-positive group, p = 0.0425). The majority of the cases with false-positive diagnoses were associated with neurological autoimmunity.CONCLUSION:The clinical diagnostic criteria are reliable for deciding to start immunomodulatory therapy in the criteria-positive cases. Low PPV may be caused by a lower prevalence of NMDAR encephalitis and/or lower level of suspicion for encephalitis in the pediatric population. Physicians should therefore continue differential diagnosis, focusing especially on other forms of encephalitis.Classification of Evidence:This study provides Class IV evidence that the proposed diagnostic criteria for anti-NMDAR encephalitis in children has a sensitivity of 81.2% and a specificity of 76.9%.

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