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Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease
Helena Ferreira,Raquel Nuñez Ramos,Cinthia Flores Quan,Susana Redecillas Ferreiro,Vanessa Cabello Ruiz,Javi Juampérez Goñi,Jesus Quintero Bernabeu,Oscar Segarra Cantón,Marina Álvarez Beltran 대한소아소화기영양학회 2018 Pediatric gastroenterology, hepatology & nutrition Vol.21 No.2
Chylomicron retention disease, also known as Anderson’s disease, is a rare hereditary hypocholesterolemic dis-order, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomit-ing associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous de-scribed [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irrever-sible and desvantating complications.
Accuracy of the 2008 Simplified Criteria for the Diagnosis of Autoimmune Hepatitis in Children
José Vicente Arcos-Machancoses,Cristina Molera Busoms,Ecaterina Julio Tatis,María Victoria Bovo,Jesús Quintero Bernabeu,Javier Juampérez Goñi,Vanessa Crujeiras Martínez,Javier Martin de Carpi 대한소아소화기영양학회 2018 Pediatric gastroenterology, hepatology & nutrition Vol.21 No.2
Purpose: Classical criteria for diagnosis of autoimmune hepatitis (AIH) are intended as research tool and are difficult to apply at patient’s bedside. We aimed to study the accuracy of simplified criteria and the concordance with the expert diagnosis based on the original criteria.Methods: A cohort of children under study for liver disorder was selected through consecutive sampling to obtain the prevalence of AIH within the group of differential diagnoses. AIH was defined, based on classical criteria, through committee review of medical reports. Validity indicators of the simplified criteria were obtained in an intention to diag-nose approach. Optimal cut-off and the area under the receiver operating characteristic (ROC) curve were calculated. Results: Out of 212 cases reviewed, 47.2% were AIH. For the optimal cut-off (6 points), the simplified criteria showed a sensitivity of 72.0% and a specificity of 96.4%, with a 94.7% positive and a 79.4% negative predictive value. The area under the ROC curve was 94.3%. There was a good agreement in the pre-treatment concordance between the classical and the simplified criteria (kappa index, 0.775). Conclusion: Simplified criteria provide a moderate sensitivity for the diagnosis of AIH, but may help in indicating treatment in cases under suspicion with 6 or more points.
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease
Ferreira, Helena,Ramos, Raquel Nunez,Quan, Cinthia Flores,Ferreiro, Susana Redecillas,Ruiz, Vanessa Cabello,Goni, Javi Juamperez,Bernabeu, Jesus Quintero,Canton, Oscar Segarra,Beltran, Marina Alvarez The Korean Society of Pediatric Gastroenterology 2018 Pediatric gastroenterology, hepatology & nutrition Vol.21 No.2
Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.
Accuracy of the 2008 Simplified Criteria for the Diagnosis of Autoimmune Hepatitis in Children
Arcos-Machancoses, Jose Vicente,Busoms, Cristina Molera,Tatis, Ecaterina Julio,Bovo, Maria Victoria,Bernabeu, Jesus Quintero,Goni, Javier Juamperez,Martinez, Vanessa Crujeiras,Martin de Carpi, Javier The Korean Society of Pediatric Gastroenterology 2018 Pediatric gastroenterology, hepatology & nutrition Vol.21 No.2
Purpose: Classical criteria for diagnosis of autoimmune hepatitis (AIH) are intended as research tool and are difficult to apply at patient's bedside. We aimed to study the accuracy of simplified criteria and the concordance with the expert diagnosis based on the original criteria. Methods: A cohort of children under study for liver disorder was selected through consecutive sampling to obtain the prevalence of AIH within the group of differential diagnoses. AIH was defined, based on classical criteria, through committee review of medical reports. Validity indicators of the simplified criteria were obtained in an intention to diagnose approach. Optimal cut-off and the area under the receiver operating characteristic (ROC) curve were calculated. Results: Out of 212 cases reviewed, 47.2% were AIH. For the optimal cut-off (6 points), the simplified criteria showed a sensitivity of 72.0% and a specificity of 96.4%, with a 94.7% positive and a 79.4% negative predictive value. The area under the ROC curve was 94.3%. There was a good agreement in the pre-treatment concordance between the classical and the simplified criteria (kappa index, 0.775). Conclusion: Simplified criteria provide a moderate sensitivity for the diagnosis of AIH, but may help in indicating treatment in cases under suspicion with 6 or more points.