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1.
Heliyon ; 10(1): e23444, 2024 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-38169788

RESUMEN

Objectives: To evaluate the radiological imaging-guided severity along the pneumonia course and evaluate the chest computed tomography (CT) findings of chemotherapy-related pneumonia in children with acute lymphoblastic leukemia (ALL). Materials and methods: A retrospective database review of children with ALL was conducted from March 2016 to August 2021 to identify cases with CT images who developed pneumonia during the chemotherapy course. A total of 51 children with ALL developed pneumonia were ultimately included (31 boys and 20 girls, mean age: 6 ± 4 years [standard deviation]). Each child's demographics, medical records, and laboratory results were collected. The CT images were then reviewed and the radiologic severity index (RSI) was calculated based on the regional opacity and implicated volume. A t-test, U test, Pearson's Chi-square test, and Fisher's exact test were performed to compare the clinical or radiologic features between the severe and moderate cases. The linear regression models were employed to analyze the correlation of RSIs with other clinical features. Results: Eleven children (22 %, 11/51) displayed severe phenotypes associated with respiratory failure. The ground glass opacity (GGO) frequently appeared (65 % of CT images). The baseline RSI was positively associated with the lowest lymphocyte (p = .003), neutrophil (p = .01) counts, and the highest C-reactive protein level (p = .04). The peak RSI may predict severe phenotypes at a cutoff of 4.5 (AUC 0.76 [0.61, 0.91]) with 73 % sensitivity and 63 % specificity. Conclusion: The chest CT images of children with chemotherapy-related pneumonia displayed clinically related baseline RSI and a peak RSI of >4.5 of 36 predicted severe phenotypes.

3.
Hum Genet ; 119(5): 463-78, 2006 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16607506

RESUMEN

A systematic study on the structure and function of Glucose-6-phosphate dehydrogenase (G6PD) variations was carried out in China. A total of 155,879 participants were screened for G6PD deficiency by the G6PD/6PGD ratio method and 6,683 cases have been found. The prevalence of G6PD deficiency ranged from 0 to 17.4%. With informed consent, 1,004 cases from 11 ethnic-based groups were subjected to molecular analysis. Our results showed the followings: (1) The G6PD variants are consistent across traditional ethnic boundaries, but vary in frequencies across ethnic-based groups in Chinese population, (2) The G6PD variants in Chinese population are different from those in African, European, and Indian populations, (3) A novel G6PD-deficiency mutation, 274C-->T, has been found, and (4) Denaturing high performance liquid chromatography is of great advantage to detecting G6PD-deficient mutations for diagnosis and genetic counseling. Moreover, functional analysis of the human G6PD variants showed the following: (1) The charge property, polarity, pK-radical and side-chain radical of the substituting amino acid have an effect on G6PD activity, (2) The G6PDArg459 and Arg463 play important roles in anchoring NADP+ to the catalytic domain to maintain the enzymatic activity, and (3) The sequence from codon 459 to the carboxyl terminal is essential for the enzymatic function.


Asunto(s)
Variación Genética , Glucosafosfato Deshidrogenasa/química , Glucosafosfato Deshidrogenasa/fisiología , Enfermedad del Almacenamiento de Glucógeno Tipo I/enzimología , Enfermedad del Almacenamiento de Glucógeno Tipo I/genética , Sustitución de Aminoácidos/genética , Arginina/genética , China , Femenino , Pruebas Genéticas , Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/enzimología , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Humanos , Masculino , NADP/metabolismo , Estructura Secundaria de Proteína/genética , Relación Estructura-Actividad
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