scholarly journals Development and validation of bile acid profile-based scoring system for identification of biliary atresia: a prospective study

2020 ◽  
Author(s):  
Dongying Zhao ◽  
Kejun Zhou ◽  
Yan Chen ◽  
Wei Xie ◽  
Yongjun Zhang

Abstract Background: Early distinguishing biliary atresia from other causes of infantile cholestasis remains a major challenge. We aimed to develop and validate a scoring system based on bile acid for identification of biliary atresia. Methods: In a prospective study, a total of 141 infants with cholestasis were enrolled in two sets (derivation cohort, n=66; validation cohort, n=75) from 2014 to 2018. Variables with significant difference between biliary atresia and non-biliary atresia infants were selected in the derivation cohort. Then, a scoring system including those variables was designed and validated. Results: Among 66 patients in the derivation cohort, 34 (51.5%) had biliary atresia. A scoring system was proposed with the following variables: glycochenodeoxycholic acid/chenodeoxycholic acid, clay stool, and gamma-glutamyl transferase. The total score ranged from 0 to 41, and a cutoff value of 15 identified biliary atresia with an area under receiver operating characteristic curve of 0.87 (95% confidence interval, 0.77–0.94), sensitivity of 85.3%, and specificity of 81.3% in the derivation cohort; these values were also confirmed in a validation cohort with a sensitivity of 90.0% and specificity of 80.0%. Conclusions: The proposed simple scoring system had good diagnostic accuracy for estimating the risk of biliary atresia in infants with cholestasis.

2020 ◽  
Author(s):  
Dongying Zhao ◽  
Kejun Zhou ◽  
Yan Chen ◽  
Wei Xie ◽  
Yongjun Zhang

Abstract Background: Early distinguishing biliary atresia from other causes of infantile cholestasis remains a major challenge. We aimed to develop and validate a scoring system based on bile acid for identification of biliary atresia.Methods: In a prospective study, a total of 141 infants with cholestasis were enrolled in two sets (derivation cohort, n=66; validation cohort, n=75) from 2014 to 2018. Variables with significant difference between biliary atresia and non-biliary atresia infants were selected in the derivation cohort. Then, a scoring system including those variables was designed and validated. Results: Among 66 patients in the derivation cohort, 34 (51.5%) had biliary atresia. A scoring system was proposed with the following variables: glycochenodeoxycholic acid/chenodeoxycholic acid, clay stool, and gamma-glutamyl transferase. The total score ranged from 0 to 41, and a cutoff value of 15 identified biliary atresia with an area under receiver operating characteristic curve of 0.87 (95% confidence interval, 0.77–0.94), sensitivity of 85.3%, and specificity of 81.3% in the derivation cohort; these values were also confirmed in a validation cohort with a sensitivity of 90.0% and specificity of 80.0%. Conclusions: The proposed simple scoring system had good diagnostic accuracy for estimating the risk of biliary atresia in infants with cholestasis.


2020 ◽  
Author(s):  
Dongying Zhao ◽  
Kejun Zhou ◽  
Yan Chen ◽  
Wei Xie ◽  
Yongjun Zhang

Abstract Background: Early distinguishing biliary atresia from other causes of infantile cholestasis remains a major challenge. We aimed to develop and validate a scoring system based on bile acid for identification of biliary atresia. Methods: In a prospective study, a total of 141 infants with cholestasis were enrolled in two sets (derivation cohort, n=66; validation cohort, n=75) from 2014 to 2018. Variables with significant difference between biliary atresia and non-biliary atresia infants were selected in the derivation cohort. Then, a scoring system including those variables was designed and validated. Results: Among 66 patients in the derivation cohort, 34 (51.5%) had biliary atresia. A scoring system was proposed with the following variables: glycochenodeoxycholic acid/chenodeoxycholic acid, clay stool, and gamma-glutamyl transferase. The total score ranged from 0 to 41, and a cutoff value of 15 identified biliary atresia with an area under receiver operating characteristic curve of 0.87 (95% confidence interval, 0.77–0.94), sensitivity of 85.3%, and specificity of 81.3% in the derivation cohort; these values were also confirmed in a validation cohort with a sensitivity of 90.0% and specificity of 80.0%. Conclusions: The proposed simple scoring system had good diagnostic accuracy for estimating the risk of biliary atresia in infants with cholestasis.


2020 ◽  
Vol 9 (8) ◽  
pp. 2509
Author(s):  
Masahiro Fukada ◽  
Nobuhisa Matsuhashi ◽  
Takao Takahashi ◽  
Nobuhiko Sugito ◽  
Kazuki Heishima ◽  
...  

Cancer-related microRNAs (miRNAs) are emerging as non-invasive biomarkers for colorectal cancer (CRC). This study aimed to analyze the correlation between the levels of tissue and plasma miRNAs and clinicopathological characteristics and surgical resection. This study was a prospective study of CRC patients who underwent surgery. Forty-four sample pairs of tissue and plasma were analyzed. The miRNA levels were evaluated by RT-qPCR. The level of tumor tissue MIR92a showed a significant difference in CRC with lymph node metastasis, stage ≥ III, and high lymphatic invasion. In preoperative plasma, there were significant differences in CRC with stage ≥ III (MIR29a) and perineural invasion (MIR21). In multivariate analysis of lymphatic invasion, the levels of both preoperative plasma MIR29a and tumor tissue MIR92a showed significant differences. Furthermore, in cases with higher plasma miRNA level, the levels of plasma MIRs21 and 29a were significantly decreased after the operation. In this study, there were significant differences in miRNAs levels with respect to the sample type, clinicopathological features, and surgical resection. The levels of tumor tissue MIR92a and preoperative plasma MIR29a may have the potential as a biomarker for prognosis. The plasma MIRs21 and 29a level has the potential to be a predictive biomarker for treatment efficacy.


Author(s):  
Ikbel El Faleh ◽  
◽  
Mohamed Faouzi ◽  
Mark Adams ◽  
Roland Gerull ◽  
...  

AbstractOur aim was to develop and validate a predictive risk score for bronchopulmonary dysplasia (BPD), according to two clinically used definitions: 1. Need for supplementary oxygen during ≥ 28 cumulative days, BPD28, 2. Need for supplementary oxygen at 36 weeks postmenstrual age (PMA), BPD36. Logistic regression was performed in a national cohort (infants born in Switzerland with a birth weight < 1501 g and/or between 23 0/7 and 31 6/7 weeks PMA in 2009 and 2010), to identify predictors of BPD. We built the score as the sum of predicting factors, weighted according to their ORs, and analysed its discriminative properties by calculating the area under the ROC (receiver operating characteristic) curves (AUCs). This score was then applied to the Swiss national cohort from the years 2014–2015 to perform external validation. The incidence of BPD28 was 21.6% in the derivation cohort (n = 1488) and 25.2% in the validation cohort (n = 2006). The corresponding numbers for BPD36 were 11.3% and 11.1%, respectively. We identified gestational age, birth weight, antenatal corticosteroids, surfactant administration, proven infection, patent ductus arteriosus and duration of mechanical ventilation as independent predictors of BPD28. The AUCs of the BPD risk scores in the derivation cohort were 0.90 and 0.89 for the BPD28 and BPD36 definitions, respectively. The corresponding AUCs in the validation cohort were 0.92 and 0.88, respectively.Conclusion: This score allows for predicting the risk of a very low birth weight infant to develop BPD early in life and may be a useful tool in clinical practice and neonatal research. What is Known:• Many studies have proposed scoring systems to predict bronchopulmonary dysplasia (BPD).• Such a risk prediction may be important to identify high-risk patients for counselling parents, research purposes and to identify candidates for specific treatment. What is New:• A predictive risk score for BPD was developed and validated in a large national multicentre cohort and its performance assessed by two indices of accuracy.• The developed scoring system allows to predict the risk of BPD development early but also at any day of life with high validity.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
F Dahadhah ◽  
M. Sale Jaweesh ◽  
M. Sali. A Zoubi ◽  
M Issa. Ab. Alarjah ◽  
M Ei Hammadeh ◽  
...  

Abstract Study question Is there any association between male infertility and the polymorphic variants of Mitochondrial Nicotinamide Adenine Dinucleotide Hydride dehydrogenase (NADH) Subunit 4 (MT-ND4)? Summary answer Our findings suggested that male infertility was correlated to rs2853495 and rs869096886 SNPs in MTND4. What is known already The rate of mutations in the mtDNA, the powerhouse of the cell, is high due to the lack of histones and DNA repair mechanisms. Therefore, mutations that occur in the mitochondrial genome, play a major role in some human genetic disorders. 15 - 30% of male infertility are related to genetic predisposition. Sperm containing defective mitochondria cannot effectively produce ATP and more likely to produce reactive oxygen species (ROS) and free radicals, thereby causing a defect in mtDNA, make trouble energy, and deteriorate motility and fertility. Study design, size, duration: A prospective study carried out between 2018 and 2019. 112 semen samples were collected in this study. Participants/materials, setting, methods The present study was carried out at the department of Obstetrics and Gynecology, University of Saarland, Germany. Samples were divided into 68 subfertile and 44 fertile men. Mitochondrial DNA was extracted using a QIAamp DNA Mini Kit, after that the mtDNA was amplified by using REPLI-g Mitochondrial DNA Kit. Polymerase chain reaction (PCR) was used to amplify MT-ND4 gene. Then, samples were purified and sequenced using the Sanger method in the Microsynth Seq lab, Germany. Main results and the role of chance The genotypes frequencies of the study population showed a statistically significant association between rs2853495 G&gt;A (Gly320Gly) and male infertility (P = 0.0351). Similarly, the allele frequency test showed that rs2853495 G&gt;A (Gly320Gly) and rs869096886 A&gt;G (Leu164Leu) were significantly associated with male infertility (adjusted OR = 2.616, 95% CI = 1.374 - 4.983, P = 0.0028; adjusted OR = 2.237, 95% CI = 1.245 - 4.017, P = 0.0073, respectively). On the other hand, no statistically significant difference was observed between the asthenozoospermia, oligozoospermia, teratozoospermia, asthenoteratozoospermia, oligoasthenoteratozoospermia, oligoteratozoospermia subgroups of subfertile males and the fertile ones. Limitations, reasons for caution The size number of the study samples. Wider implications of the findings: A larger prospective study will be required to confirm these associations of mitochondrial gene polymorphisms rs2853495 and rs869096886 in MT-ND4 and male infertility and to clarify the definite effect of the mitochondrial genetic variations on male infertility. Trial registration number Not applicable


Medicina ◽  
2011 ◽  
Vol 47 (4) ◽  
pp. 28 ◽  
Author(s):  
Ahmed Fahim ◽  
Peter Dettmar ◽  
Alyn Morice ◽  
Simon Hart

Background and Objective. Idiopathic pulmonary fibrosis (IPF) is the most common of the idiopathic interstitial pneumonias. There is evidence of the increased prevalence of gastroesophageal reflux disease in patients with IPF. The aim of this prospective study was to evaluate reflux in patients with IPF by analyzing the scores of the reflux cough questionnaire, measurement of pepsin in exhaled breath condensate (EBC) to detect extraesophageal reflux, and Helicobacter pylori serology to evaluate the prevalence of this stomach bacterium in patients with IPF. Material and Methods. The Hull airway reflux questionnaire (HARQ) was completed by 40 patients with IPF and 50 controls in order to evaluate reflux symptoms. EBC was collected from 23 patients (17 patients with IPF and 6 controls) for measurement of pepsin by the lateral flow technique. A prospective study of 57 subjects (34 patients with IPF and 23 controls) for H. pylori antibody detection by ELISA was performed. Results. Significantly higher HARQ scores (maximum score, 70) were recorded in patients with IPF compared with controls (19.6 [SD, 12.4] vs. 3 [SD, 2.9], P<0.001). There was no significant difference in EBC pepsin positivity between patients with IPF and controls (2 of the 17 patients vs. none of the 6 controls, P=0.38). There was no significant difference in H. pylori serology between patients with IPF and controls (17 of the 34 patients vs. 14 of the 23 controls, P=0.42). Conclusion. Patients with IPF had significantly increased scores of airway reflux symptoms. However, no objective evidence of extraesophageal reflux or H. pylori infection in patients with IPF was obtained in this study. The role of gastroesophageal and extraesophageal reflux in pathogenesis of IPF should be evaluated in a larger prospective study.


2009 ◽  
Vol 15 (3) ◽  
pp. 106-109 ◽  
Author(s):  
Raimundo Francisco de Amorim Júnior ◽  
Suerda Emiliana Cavalcanti Dantas ◽  
Rodrigo de Holanda Mendonça ◽  
Abdiel de Lira Rolim ◽  
Maria Luiza de Carvalho Jales ◽  
...  

OBJECTIVES: To assess the occurrence of epileptic seizures (ES) in children and adolescents with hydrocephalus and their relationship with ventriculoperitoneal shunt (VPS) treatment. METHODS: Retrospective study of 45 patients from both genders, aged 0 to 18 years, with hydrocephalus and presenting with ES or not. The following variables were analyzed: gender, hydrocephalus etiology, age at diagnosis, age at initial VPS treatment, age at first ES and types of ES. RESULTS: Data analysis showed the following: 20 (44.4%) presented with ES, 13 (65%) of the girls and seven (35%) of the boys. There was a predominance of ES in the girls, but with no statistically significant difference. In total, 13 (65%) patients used VPS. Of the 13 patients with VPS and ES, it was observed that the onset of ES was after VPS in 10 (76.9%) individuals, whereas it occurred before VPS in two (15.4%). CONCLUSIONS: The results showed no association between VPS treatment and ES (ρ=0.832); however, most of the patients presented with their first ES episode after VPS, suggesting a possible relationship between this treatment and the occurrence of ES. A larger sample and a prospective study might answer this question.


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