A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics

2017 ◽  
Vol 20 (1) ◽  
pp. 28-37 ◽  
Author(s):  
Raquel Núñez-Ramos ◽  
Raquel M Fernández ◽  
Miguel González-Velasco ◽  
Jesús Ruiz-Contreras ◽  
Enrique Galán-Gómez ◽  
...  
Keyword(s):  
Scoring System ◽  
Severe Disease ◽  
Hirschsprung Disease ◽  
Molecular Study ◽  
Clinical Genetic ◽  
A Value ◽  
Wide Range ◽  
Severe Group ◽  
Clinical Scoring ◽  
Sensitivity Specificity

Objectives Hirschsprung disease (HSCR) has a wide range of severity. There are nonsevere forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Methods We carried out a retrospective observational study including all HSCR cases treated in our hospital. The sample was divided into severe and nonsevere disease according to the number of surgical procedures, hospitalization time, and episodes of enterocolitis. The proposed score was applied at diagnosis, and the sensitivity, specificity, and optimal cut-point were determined. We conducted a prospective molecular study of RET, EDNRB, and EDN3 on all patients, as well as SOX10 in Waardenburg Syndrome type 4 forms. Results Among the 42 patients treated between 1983 and 2013, 15 met the severe disease criteria. This group had a higher mean score (13.15 ± 2.36) than the nonsevere group (8.15 ± 2.13; p < 0.001). A score ≥11 had a sensitivity of 87% and a specificity of 81% in detecting the severe cases. Causative mutations were identified in 12 patients, 8 of them in the severe group ( p = 0.015). Most of these mutations (75%) were located in the RET proto-oncogene. Conclusion The proposed scoring system enables the early selection of patients with severe behavior of HSCR. A value ≥11 showed good sensitivity and specificity for this purpose. Causative mutations were identified in more than 50% of patients who met the criteria for severe disease.

scholarly journals Which Clinical Scoring Systems Are Most Useful in Showing Severity in COVID-19 Patients?

2021 ◽  
Author(s):  
Ishak San ◽  
Emin Gemcioglu ◽  
Salih Baser ◽  
Nuray Yilmaz Cakmak ◽  
Abdulsamet Erden ◽  
...  
Keyword(s):  
High Risk ◽  
Clinical Outcomes ◽  
Predictive Value ◽  
Independent Predictor ◽  
Severe Disease ◽  
Scoring Systems ◽  
High Risk Group ◽  
World Health ◽  
Severe Group ◽  
Clinical Scoring

Abstract IntroductionIn this study, we compare the predictive value of clinical scoring systems that are already in use in patients with COVID-19, including the BCRSS, qSOFA, SOFA, MuLBSTA and HScore, for determining the severity of the disease. Our aim in this study is to determine which scoring system is most useful in determining disease severity and to guide clinicians.Materials and MethodsWe classified the patients into two groups according to the stage of the disease (severe and non-severe) by using the slightly modified and adopted interim guidance of the World Health Organization. Severe cases were divided into a group of surviving patients and a deceased group according to the prognosis. According to admission values, the BCRSS, qSOFA, SOFA, MuLBSTA, and HScore were evaluated at admission using the worst parameters available in the first 24 hours.ResultsOf the 417 patients included in our study, 46 (11%) were in the severe group, while 371 (89%) were in the non-severe group. Of these 417 patients, 230 (55.2%) were men. The median (IQR) age of all patients was 44 (25) years. In multivariate logistic regression analyses, BRCSS in the highest tertile (HR: 6.1, 95% CI: 2.105–17.674, p = 0.001) was determined as an independent predictor of severe disease in cases of COVID-19. In multivariate analyses, qSOFA was also found to be an independent predictor of severe COVID-19 (HR: 4.757, 95% CI: 1.438–15.730, p = 0.011). The area under the curve (AUC) of the BRCSS, qSOFA, SOFA, MuLBSTA, and HScore was 0.977, 0.961, 0.958, 0.860, and 0.698, respectively.ConclusionCalculation of the BRCSS and qSOFA at the time of hospital admission can predict critical clinical outcomes in patients with COVID-19, and their predictive value is superior to that of HScore, MuLBSTA, and SOFA. With early identification of the high-risk group using BRCSS and qSOFA, early interventions for high-risk patients can improve clinical outcomes in COVID-19.

scholarly journals Early Achievable Severity (EASY) Index for Simple and Accurate Expedite Risk Stratification in Acute Pancreatitis

2020 ◽  
Vol 24 (2) ◽  
pp. 177-182 ◽  
Author(s):  
István Hritz ◽  
Péter Hegyi
Keyword(s):  
Acute Pancreatitis ◽  
Risk Stratification ◽  
Scoring System ◽  
Prognostic Markers ◽  
Early Recognition ◽  
Severe Disease ◽  
Scientific Meeting ◽  
Clinical Trial Registry ◽  
Serious Adverse Events ◽  
Clinical Scoring

Background: Acute pancreatitis (AP) is one of the most common diseases of the gastrointestinal tract associated with significant morbidity and mortality. The assessment of severity is crucial in the management of the disease. Current methods of risk stratification in AP have a limited value, as they provide little additional information thus delaying appropriate patient care. Early recognition of severe disease may prevent serious adverse events and improve patient management as well as overall clinical outcome.Methods/Design: The EASY trial is an observational, multicenter, prospective cohort study for establishing a simple, easy and accurate clinical scoring system for early prognostication of AP. Evaluation of simple attainable potential prognostic parameters obtained at admission (or not later than 6-12 hours afterwards) from patients diagnosed with AP will be performed to assess their potential correlation with the disease severity. The selected parameters that show the strongest correlation with severe disease course will be further utilized as potential early severity prognostic markers for prospective new patient stratification. Comparison of patients' clinical course with the obtained results of early risk stratification may validate the utilized parameters as prognostic markers. The trial has been (i) discussed and (ii) accepted in a distinguished international scientific meeting, (ii) receiving the relevant ethical approval (TÜKEB: 30595-1/2014/EKU), (ii) registered at the ISRCTN registry which is a primary clinical trial registry recognized by WHO (Trial registration number: ISRCTN10525246).Conclusion: The EASY trial is designed to develop a simple and accurate clinical scoring system that can stratify patients with AP during the first 6-12 hours of hospitalization according to their risk for severe disease course.Key words:  -  - -  -.

scholarly journals Introduction of a Radiologic Severity Index for the 2019 Novel Corona Virus (COVID-19)

2020 ◽  
Author(s):  
Mehrzad Lotfi ◽  
Sepideh Sefidbakht ◽  
Mohsen Moghadami ◽  
Pouya Iranpour ◽  
Yasaman Emami ◽  
...  
Keyword(s):  
Severity Score ◽  
Scoring System ◽  
Severe Disease ◽  
Severity Of Illness ◽  
Severity Index ◽  
P Value ◽  
Cross Sectional ◽  
Lung Abnormalities ◽  
Severe Group ◽  
Reverse Relationship

Abstract Background: Given the limited number of beds in intensive care units, establishing a system that can predict the outcome in COVID19 positive patients based on imaging plays an important role in using resources efficiently. Therefor this study was conducted to design an optimal scoring system related to the severity of COVID19 cases for distinguishing severe from non-severe patients. Materials and Methods: In this cross-sectional retrospective study, 82 patients with a definite diagnosis of COVID-19 infection, who had at least one chest CT scan in hospital course were enrolled.To assess the severity of pulmonary parenchymal involvement, we semi-quantitatively evaluated the extent and nature of abnormalities. The area of lung involvement was scored in three levels based on a 0-4 grading scale. Also, we established a 4-point scoring system for defining the nature of lung abnormalities. The two scores were multiplied by each other. A final radiologic severity score was determined after adding together the scores of all levels.Result: Of all cases, fifty-three (64.6%) were male with an average age of age 53.75. Among the patients in our study, 7 (8.5%) had severe disease and the mortality rate was 7.2%. The mean (±standard deviation) of the radiologic severity score was 34.3(±18.4) in the severe group and 11.3(±11.4) in the non-sever group. (P-value <0.05). Also, we found a significant reverse relationship between our severity score and O2 saturation (P-value <0.05).Conclusion: The radiologic severity score demonstrated a significant correlation with the patients' mortality and severity of illness in COVID-19 patients.

scholarly journals Brescia-COVID Respiratory Severity Scale (BRCSS) and Quick SOFA (qSOFA) score are most useful in showing severity in COVID-19 patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ishak San ◽  
Emin Gemcioglu ◽  
Salih Baser ◽  
Nuray Yilmaz Cakmak ◽  
Abdulsamet Erden ◽  
...  
Keyword(s):  
High Risk ◽  
Clinical Outcomes ◽  
Predictive Value ◽  
Scoring System ◽  
Independent Predictor ◽  
Severe Disease ◽  
World Health ◽  
Smoking History ◽  
Severity Scale ◽  
Severe Group

AbstractIn this study, we compare the predictive value of clinical scoring systems that are already in use in patients with Coronavirus disease 2019 (COVID-19), including the Brescia-COVID Respiratory Severity Scale (BCRSS), Quick SOFA (qSOFA), Sequential Organ Failure Assessment (SOFA), Multilobular infiltration, hypo-Lymphocytosis, Bacterial coinfection, Smoking history, hyper-Tension, and Age (MuLBSTA) and scoring system for reactive hemophagocytic syndrome (HScore), for determining the severity of the disease. Our aim in this study is to determine which scoring system is most useful in determining disease severity and to guide clinicians. We classified the patients into two groups according to the stage of the disease (severe and non-severe) and adopted interim guidance of the World Health Organization. Severe cases were divided into a group of surviving patients and a deceased group according to the prognosis. According to admission values, the BCRSS, qSOFA, SOFA, MuLBSTA, and HScore were evaluated at admission using the worst parameters available in the first 24 h. Of the 417 patients included in our study, 46 (11%) were in the severe group, while 371 (89%) were in the non-severe group. Of these 417 patients, 230 (55.2%) were men. The median (IQR) age of all patients was 44 (25) years. In multivariate logistic regression analyses, BRCSS in the highest tertile (HR 6.1, 95% CI 2.105–17.674, p = 0.001) was determined as an independent predictor of severe disease in cases of COVID-19. In multivariate analyses, qSOFA was also found to be an independent predictor of severe COVID-19 (HR 4.757, 95% CI 1.438–15.730, p = 0.011). The area under the curve (AUC) of the BRCSS, qSOFA, SOFA, MuLBSTA, and HScore was 0.977, 0.961, 0.958, 0.860, and 0.698, respectively. Calculation of the BRCSS and qSOFA at the time of hospital admission can predict critical clinical outcomes in patients with COVID-19, and their predictive value is superior to that of HScore, MuLBSTA, and SOFA. Our prediction is that early interventions for high-risk patients, with early identification of high-risk group using BRCSS and qSOFA, may improve clinical outcomes in COVID-19.

Multiple Myeloma or Brucellosis: A Case Report

2020 ◽  
Vol 20 (1) ◽  
pp. 102-105 ◽  
Author(s):  
Hossein A. Rahdar ◽  
Mansoor Kodori ◽  
Mohamad R. Salehi ◽  
Mahsa Doomanlou ◽  
Morteza Karami-Zarandi ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Brucella Melitensis ◽  
Severe Disease ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
Major Health Problem ◽  
Brucella Infection ◽  
Wide Range ◽  
Parental Treatment

Background: Brucellosis, a major health problem in developing countries, is a multisystem infection with a broad spectrum of clinical manifestations. Hematological complications, ranging from an intravascular coagulopathy to mild homeostasis disorders (such as gammopathy), have been reported in brucella infection. These signs and symptoms may lead to misdiagnosis of brucellosis with other hematological diseases. Case: A 65-year-old male whose occupation was shepherding was referred to our hospital as a known case of multiple myeloma with continuous fever, muscle weakness, and night sweating after taking 2 courses of chemotherapy. The laboratory diagnosis of multiple myeloma had been based on the observation of a high percent of plasma cells in the bone marrow aspiration. At follow- up, the result of patient's fever workup, with 2 sets of blood cultures, was positive for Brucella melitensis. Isolated brucella was confirmed as B. melitensis by 16S rRNA sequencing. Brucellosis serologic test was performed by agglutination test and positive results were obtained. The patient was discharged with the cessation of fever and general improvement after the end of the parental treatment phase of brucella bacteremia. Conclusions: Brucella infection may cause a severe disease, mimicking a primary hematological disease, which could complicate the correct diagnosis. In brucellosis cases, due to the wide range of symptoms, in addition to cultivation and serological methods, molecular methods should also be used to prevent inappropriate diagnosis and additional costs.

scholarly journals SAT0541 THE SEVERITY OF FMF MAY BE ASSOCIATED WITH CO-MORBIDITIES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1227.3-1228
Author(s):  
M. E. Tezcan ◽  
N. Şen ◽  
M. Yilmaz ◽  
Ö. Volkan ◽  
E. Tükel ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Scoring System ◽  
Disease Duration ◽  
Severe Disease ◽  
Smoking History ◽  
Disease Group ◽  
Severity Scoring ◽  
Mild Disease ◽  
Co Morbidity ◽  
Mediterranean Fever

Background:Familial Mediterranean fever (FMF) is an auto inflammatory disease with recurrent attacks of serositis. Frequent attacks and disease related sequels may be associated with co-morbidities in FMF patients.Objectives:One of the tools for evaluating the FMF severity is the international severity scoring system for FMF (ISSF)1. This score includes disease related sequels, acute phase measurements, attack features and exertional leg pain. Therefore, more severe disease may be link with subclinical inflammation, amyloidosis and frequent, prolonged and widespread attacks. All these components may augment the frequency of non-disease related co-morbidities.Methods:We enrolled 158 FMF patients who fulfilled modifiedTel-HashomerDiagnosisCriteria2. The patients dichotomized based upon disease severity (mild disease or severe disease). Patients with ISSF scores lower or equal to 2 were accepted to have mild disease. Then, we compared frequency of non-disease related co-morbidities between the groups. These co-morbidities arehypertension, hypothyroidism, hyperthyroidism cardiovascular diseases, coronary artery diseases, cerebrovascular diseases, chronic renal disease (non-FMF related), chronic obstructive pulmonary diseases, and diabetes mellitus. This study was approved by the Local Research Ethics Committee and carried out in compliance with the Helsinki Declaration. All the patients gave written informed consent. P-value lower than 0.05 was considered as statistically significant.Results:Demographic features, disease duration, smoking history and body mass index (BMI) were similar between the groups. Frequency of co-morbidity in severe disease group was statistically higher than mild disease group (p=0.02). Most frequent co-morbidity was hypertension in both groups.Table.Features of mild and severe FMF groupsMild (n=135)Severe (n=23)pGender (M/F)47/8811/120.23Age36.4±11.336.5±14.30.68Smoking (%)38 (28.1)5 (21.7)0.52BMI (kg/m2)24.3±9.224.0±8.90.34Disease duration (year)7.7±11.38.6±14.30.09Amyloidosis (%)2 (1.4)3 (13.0)0.02Exon 10 homozygote (%)35 (25.9)9 (39.1)0.19Colchicine dosage (mg/day)1.2±0.41.4±0.50.02ISSF scores0.7 ±0.73.4±0.5<0.001Co-morbidity (%)25 (18.5)9 (39.1)0.02Conclusion:In our FMF patient cohort, we found that severity of the disease may be associated with higher frequency of co-morbidities. Therefore, clinicians should be aware of the high possibility of co-morbidities in patients with more severe FMF and addressed these co-morbidities timely and properly.References:[1]Demirkaya E, et al. Development and initial validation of international severity scoring system for familial Mediterranean fever (ISSF). Ann Rheum Dis 2016;75:1051-6.[2]Berkun Y, et al. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev 2014;13:388-90.Acknowledgments:NoneDisclosure of Interests:None declared

scholarly journals Differences in coagulopathy indices in patients with severe versus non-severe COVID-19: a meta-analysis of 35 studies and 6427 patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alberto Polimeni ◽  
Isabella Leo ◽  
Carmen Spaccarotella ◽  
Annalisa Mongiardo ◽  
Sabato Sorrentino ◽  
...  
Keyword(s):  
Platelet Count ◽  
Meta Analysis ◽  
Severe Disease ◽  
Coagulation Factors ◽  
Primary Analysis ◽  
Severe Group ◽  
Intravascular Coagulopathy ◽  
The Difference ◽  
D Dimer

AbstractCoronavirus disease 2019 (COVID-19) is a highly contagious disease that appeared in China in December 2019 and spread rapidly around the world. Several patients with severe COVID-19 infection can develop a coagulopathy according to the ISTH criteria for disseminated intravascular coagulopathy (DIC) with fulminant activation of coagulation, resulting in widespread microvascular thrombosis and consumption of coagulation factors. We conducted a meta-analysis in order to explore differences in coagulopathy indices in patients with severe and non-severe COVID-19. An electronic search was performed within PubMed, Google Scholar and Scopus electronic databases between December 2019 (first confirmed Covid-19 case) up to April 6th, 2020. The primary endpoint was the difference of D-dimer values between Non-Severe vs Severe disease and Survivors vs Non-Survivors. Furthermore, results on additional coagulation parameters (platelet count, prothrombin time, activated partial thromboplastin time) were also analyzed. The primary analysis showed that mean d-dimer was significantly lower in COVID-19 patients with non-severe disease than in those with severe (SMD − 2.15 [− 2.73 to − 1.56], I2 98%, P < 0.0001). Similarly, we found a lower mean d-dimer in Survivors compared to Non-Survivors (SMD − 2.91 [− 3.87 to − 1.96], I2 98%, P < 0.0001). Additional analysis of platelet count showed higher levels of mean PLT in Non-Severe patients than those observed in the Severe group (SMD 0.77 [0.32 to 1.22], I2 96%, P < 0.001). Of note, a similar result was observed even when Survivors were compared to Non-Survivors (SMD 1.84 [1.16 to 2.53], I2 97%, P < 0.0001). Interestingly, shorter mean PT was found in both Non-Severe (SMD − 1.34 [− 2.06 to − 0.62], I2 98%, P < 0.0002) and Survivors groups (SMD − 1.61 [− 2.69 to − 0.54], I2 98%, P < 0.003) compared to Severe and Non-Survivor patients. In conclusion, the results of the present meta-analysis demonstrate that Severe COVID-19 infection is associated with higher D-dimer values, lower platelet count and prolonged PT. This data suggests a possible role of disseminated intravascular coagulation in the pathogenesis of COVID-19 disease complications.

Path Integral Calculations of Particle Self-Energy and Effective Mass in Coulomb Systems

1997 ◽  
Vol 11 (04) ◽  
pp. 129-138 ◽  
Author(s):  
V. Sa-Yakanit ◽  
V. D. Lakhno ◽  
Klaus Haß
Keyword(s):  
Effective Mass ◽  
Path Integral ◽  
State Energy ◽  
Coulomb Systems ◽  
Integral Approach ◽  
Coupling Region ◽  
Self Energy ◽  
Consistent Approximation ◽  
A Value ◽  
Wide Range

The generalized path integral approach is applied to calculate the ground state energy and the effective mass of an electron-plasmon interacting system for a wide range of densities. It is shown that in the self-consistent approximation an abrupt transition between the weak coupling and the strong coupling region of interaction exists. The transition occurs at low electron densities according to a value of 418 for rs, when Wigner crystallization is possible. For densities of real metals, the electron bandwidth is calculated and a comparison with experimental results is given.

scholarly journals One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

2021 ◽  
Author(s):  
Stephen E. Lincoln ◽  
Tina Hambuch ◽  
Justin M. Zook ◽  
Sara L. Bristow ◽  
Kathryn Hatchell ◽  
...  
Keyword(s):  
Diagnostic Yield ◽  
Copy Number Variants ◽  
Low Complexity ◽  
Clinical Genetic ◽  
Clinical Sensitivity ◽  
Pathogenic Variants ◽  
Wide Range ◽  
Large Indels ◽  
Next Generation Sequencing Ngs ◽  
The Impact

Abstract Purpose To evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small copy-number variants (CNVs), complex alterations, and variants in low-complexity or segmentally duplicated regions. Methods An interlaboratory pilot study used synthetic specimens to assess detection of challenging variant types by various next-generation sequencing (NGS)–based workflows. One well-performing workflow was further validated and used in clinician-ordered testing of more than 450,000 patients. Results In the interlaboratory study, only 2 of 13 challenging variants were detected by all 10 workflows, and just 3 workflows detected all 13. Limitations were also observed among 11 less-challenging indels. In clinical testing, 21.6% of patients carried one or more pathogenic variants, of which 13.8% (17,561) were classified as technically challenging. These variants were of diverse types, affecting 556 of 1,217 genes across hereditary cancer, cardiovascular, neurological, pediatric, reproductive carrier screening, and other indicated tests. Conclusion The analytic and clinical sensitivity of NGS workflows can vary considerably, particularly for prevalent, technically challenging variants. This can have important implications for the design and validation of tests (by laboratories) and the selection of tests (by clinicians) for a wide range of clinical indications.

Sign in / Sign up

Export Citation Format

Share Document