RESUMEN
Mowat-Wilson syndrome (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-box-binding homeobox 2 (ZEB2) gene mutation and has various clinical manifestations including intellectual disability/global developmental delay, unusual facies and multiple congenital malformations. This article reports the clinical features and gene mutations of three children diagnosed with MWS by ZEB2 gene analysis. All three children had Hirschsprung disease and unusual facies. One child died of severe heart failure and pneumonia at the age of 4 months. Global developmental delay was not discovered by her parents due to her young age. The other two children had severe global developmental delay. All three children carried a de novo heterozygous nonsense mutation in the ZEB2 gene, among which c.756C>A (p.Y252X) had not been reported before. Such mutations produced truncated proteins and were highly pathogenic. MWS is presented with strong clinical and genetic heterogeneity. Clinicians should consider the possibility of MWS when a child has unusual facies of MWS, intellectual disability/global developmental delay and multiple congenital malformations. Gene detection helps to make a confirmed diagnosis.
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Facies , Enfermedad de Hirschsprung , Discapacidad Intelectual , Microcefalia , Femenino , Proteínas de Homeodominio , Humanos , Proteínas RepresorasRESUMEN
Background: There is no accurate radiological measurement to estimate the severity of pediatrics acute respiratory distress syndrome (PARDS). We validated the effectiveness of an adult radiographic assessment of lung edema (RALE) score in PARDS. Aim: To assess the severity and prognosis of PARDS based on a chest radiograph (CXR) RALE scoring method. Methods: Pediatric Acute Lung Injury Consensus Conference (PALICC) criteria were used to diagnose PARDS. General demographics, pulmonary complications, and 28-day mortality of the patients were recorded. Subgroups were compared by prognosis (survive and death) and etiology (infection and noninfection). Two observers calculated RALE independently. Each quadrant of CXR was scored by consolidation scores 0 (none alveolar opacity), 1 (extent <25%), 2 (extent 25%-50%), 3 (50%-75%), and 4 (>75%) and density scores 1 (hazy), 2 (moderate), and 3 (dense). Quadrant score equals consolidation score times density score. Total score equals to the sum of four quadrants scores. The ROC curve and survival curve were established, and the optimal cutoff score for discrimination prognosis was set. Results: 116 PARDS (72 boys and 44 girls) and 463 CXRs were enrolled. The median age was 25 months (5 months, 60.8 months) and with a mortality of 37.9% (44/116). The agreement between two independent observers was excellent (ICC = 0.98, 95% CI: 0.97-0.99). Day 3 score was independently associated with better survival (p < 0.001). The area under the curve of ROC was 0.773 (95% CI: 0.709-0.838). The cutoff score was 21 (sensitivity 71.7%, specificity 76.5%), and the hazard ratio (HR) was 9.268 (95% CI: 1.257-68.320). The pulmonary complication showed an HR of 3.678 (95% CI: 1.174-11.521) for the discrimination. Conclusion: CXR RALE score can be used in PARDS for discriminating the prognosis and has a better agreement among radiologist and pediatrician. PARDS with pulmonary complications, day 3 score whether greater than 21 points, have a better predictive effectiveness.
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Pediatría , Edema Pulmonar , Síndrome de Dificultad Respiratoria , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Pronóstico , Edema Pulmonar/etiología , Síndrome de Dificultad Respiratoria/diagnóstico por imagen , Ruidos RespiratoriosRESUMEN
Grazing is one of the major human activities which lead to disturbance on grassland ecosystem. Quantifying the effect of grazing on the temperature sensitivity of soil respiration ( Q10 ) is essential for accurate assessment of carbon budget in grassland ecosystem. This study was conducted on the grazing gradients experiment platform in Hulunber meadow steppe. Soil respiration was measured by a dynamic closed chamber method (equipped with Li 6400-09, Lincoln, NE, USA) during the growing season in 2011. The results showed that soil respiration had significant seasonal variation and the maximum occurred in July, which was mainly dominated by temperature. The order of average soil respiration during the period from May to September in different treatments was G1 > GO > G2 > G3 > G4 > G5. Comparing with non-grazing treatment, Q10 under heavy grazing conditions (0. 92 Au hm-2) was reduced by about 10% , and was increased a little under light grazing conditions (0. 23 Au hm-2). There was a significant negative correlation between Q15 and grazing intensities (r = 0. 944, P <0. 05) . Grazing could decrease the temperature sensitivity of soil respiration to different degrees. The Q10 under different grazing gradients had positive linear regression relationships with aboveground biomass, belowground biomass, soil organic carbon and soil moisture. They could explain 71.0%-85.2% variations of Q10. It was suggested that the variation of Q10 was mainly determined by the change of biotic and environmental factors due to grazing.
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Pradera , Herbivoria , Suelo/química , Temperatura , Biomasa , Carbono/química , Monitoreo del Ambiente , Poaceae , Estaciones del AñoRESUMEN
OBJECTIVE: To summarize the chest CT features and outcome of necrotizing pneumonia (NP) caused by Mycoplasma pneumoniae in children and to review the changes of common inflammatory parameters in NP patients to help clinicians understand the proper timing of CT scan. METHOD: The imaging data from 30 cases of Mycoplasma pneumoniae pneumonia in NP group and 24 cases with non-necrotizing Mycoplasma penumoniae pneumonia (control group) were analyzed retrospectively. The changes of common inflammatory parameters in NP group and control group were compared. RESULT: (1) The chest CT findings of NP (30 cases): 28 cases showed unilateral pneumonia, and 20 cases showed single lobar consolidation, 10 cases had multiple lobes involvement; pulmonary cavities were seen in 27 cases. There were decreased enhancement areas in the consolidation (22 cases). (2) The dynamic changes of CT signs during follow-up: The CT scan performed during the 1 - 2 months after onset of disease (23 cases) showed that pulmonary consolidation in 2 cases (9%) were absorbed, 18 cases (78%)had cavities in lung, 16 cases (70%) had pleural thickening, 2 cases (9%) atelectasis and 1 case (4%) bronchopleural fistula;the CT scan performed during the 2 - 3 months after onset of disease (11 cases) showed pulmonary consolidation in 7 cases (64%) were absorbed, 10 cases (91%) pleural thickness, 7 cases (64%) with cavities in lung, 5 cases (45%) atelectasis, 2 cases (18%) pulmonary lobe cysts and 1 case bronchopleural fistula. The CT scan performed at 3.5 years of disease course (10 cases) showed that there were no pulmonary consolidation in any of the cases, 4 cases had atelectasis, 4 cases had pulmonary cysts, and 1 case had band-like scars. (3) There were significant differences between NP group and control group in the maximum peripheral blood WBC, proportion of neutrophil and C-reactive protein(CRP, mg/L) (P < 0.01, 0.01, 0.001, respectively), and there was significant difference between the 2 groups in the duration of fever, abnormal WBC(d) and CRP(d) (P < 0.001). CONCLUSION: The chest CT features of NP caused by Mycoplasma pneumoniae in children were single lobular consolidation in most cases, NP had decreased parenchymal enhancement and cavity in the consolidation, and recovery was slow, the outcome included recovery, atelectasis or lobar cystic degeneration. The clinicians should pay more attention to the common inflammatory parameters when they suspect the Mycoplasma pneumoniae pneumonia is progressing into necrosis and make correct decision for chest CT examination.
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Pulmón/diagnóstico por imagen , Neumonía por Mycoplasma/diagnóstico por imagen , Atelectasia Pulmonar/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Recuento de Leucocitos , Pulmón/patología , Masculino , Mycoplasma pneumoniae , Necrosis/patología , Derrame Pleural/diagnóstico por imagen , Derrame Pleural/patología , Neumonía por Mycoplasma/patología , Atelectasia Pulmonar/patología , Radiografía Torácica , Estudios Retrospectivos , Sensibilidad y Especificidad , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVE: To explore the normal aerification of paranasal sinuses in Chinese children with magnetic resonance imaging. METHODS: Two hundred and eighty Chinese children aged from 17 days to 14 years without any symptoms related to sinusitis were statistically analyzed in MRI features, including counting the number of paranasal sinus pneumatization and the maximum axial and sagittal area of the left maxillary. RESULTS: The pneumatization rate of maxillary sinus was 85% in children aged from 0 to 1 years. Until 3 years the pneumatization rate of maxillary sinus was 95% and there was no significant difference in boys and girls (χ(2) = 0.741, P = 0.389). The pneumatization rate of maxillary sinus reached 100% after 4 years old. The pneumatization rate of ethmoid sinus was 100% in this study. The pneumatization rate of sphenoid sinus was 0 within 1 year old, 49% within 4 years old and 100% after 7 years old. There was no significant difference in boys and girls on the pneumatization rate of sphenoid sinus (χ(2) = 2.452, P = 0.117). The pneumatization rate of frontal sinus was 0 within 5 years old, 62% within 9 years old and 95% after 10 years old. There was no significant difference in boys and girls on the pneumatization rate of frontal sinus (χ(2) = 0.124, P = 0.724). The axial and sagittal maximum area of maxillary sinus was (689.28 ± 221.79) and (659.76 ± 263.31) mm(2) in girls and (668.13 ± 206.38) and (638.60 ± 207.67) mm(2) in boys. The differences were significant (t = -19.78, P < 0.001; t = -19.89, P < 0.001). CONCLUSION: The study of the development and normal aerification of paranasal sinuses of children can help radiologist make correct diagnosis of paranasal sinuses in children.
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Senos Paranasales/anatomía & histología , Senos Paranasales/crecimiento & desarrollo , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , MasculinoRESUMEN
OBJECTIVE: To evaluate chest radiographic findings of children with 2009 influenza (H1N1) virus infection. METHOD: Data of 235 patients who had microbiologically confirmed H1N1 infection and available chest radiograph obtained between May 1(st) 2009 and Jan. 31(st) 2010 were retrospectively analyzed. The final study group was divided on the basis of clinical course [group 1 mild, outpatients without hospitalization (n = 172); group 2 moderate, inpatients with brief hospitalization (n = 49); group 3 severe, ICU admission (n = 14)]. Four pediatric radiologists reviewed all the chest radiographs of lung parenchyma, airway, pleural abnormalities and also anatomic distribution of the disease. RESULT: No significant sex or age differences were found among the study groups (P > 0.05). The mean interval between the onset of clinical symptom and the initial chest radiography was (5.91 ± 1.64) days (group 1), (3.60 ± 1.43) days (group 2) and (1.21 ± 0.41) days (group 3), respectively. The differences among the three groups were significant statistically (χ(2) = 13.368, P < 0.01). The ratio of abnormality presented at initial chest X-ray was 79.7% in group 1, 91.8% in group 2 and 100% in group 3. Radiographically, there were prominent peribronchial markings (group 1, 55.2%; group 2, 83.7%; and group 3, 78.6%), consolidation (group 1, 34.3%; group 2, 69.4%; and group 3, 100.0%), hyperinflation (group 1, 22.1%; group 2, 44.9%; and group 3, 50.0%) and ground glass opacity (group 1, 0.6%; group 2, 2.0%; and group 3, 14.3%) in the chest radiographs. The differences of presenting were statistically significant (P < 0.01). In the severe group, the lesions distributed diffusely and asymmetrically with multi-lobe involvements. CONCLUSION: In children with 2009 influenza A H1N1 viral infection, the interval between the onset of clinical symptom and initial chest radiography, the ratio of abnormality presented at initial chest X-ray film and the severity of chest film are parallel to their clinical situation.
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Subtipo H1N1 del Virus de la Influenza A , Gripe Humana/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Gripe Humana/virología , Masculino , Estudios RetrospectivosRESUMEN
Human activities have changed the earth surface mostly, which caused many environment issues now. We aimed to detect the process that human activities exert on ecosystem by investigating and analyzing the changes of plant community, especially underground soil and root carbon sequestration under long-term cultivation and grazing in typical steppe area of Nei Monggol, North China. The carbon sequestration on the root and soil in three plots of typical steppe area: 26-year exclosure grassland (E26), continuous grazing grassland (LG) and 35-year cultivated tillage (LC) were measured. The carbon storage in the layer of 0-40 cm showed a trend that E26 (7 307.59 g x m(-2) and 950.32 g x m(-2)) approximately LG (7834.01 g x m(-2) and 843.43 g x m(-2)) > LC (4537.04 g x m(-2) and 277.35 g x m(-2)), occupied 88.49%, 90.28% and 94.24% of total soil-root carbon respectively. The original composition structure of plant-soil system was completely destroyed by human cultivation, and it also led to sever soil erosion as well. The sand content in soil of LC at layers 0-10 cm, 10-20 cm were increasing by 81% and 39% compared to E26. On the other hand, the root biomass of LG at 0-40 cm decreased by 71%. Cultivation resulted in significant decrease of the carbon storages in soil and root. Therefore, the present cultivation should be ceased and the optimum measurements should be taken to make the tillage restore to natural grassland condition. Continuous grazing led to the significantly changes of the above-ground vegetation characteristics such as community height, coverage and biomass. While the changes of soil organic content and root biomass was not remarkable under grazing. However, the bulk density of surface soil (0-10 cm) exhibited significant increase in LG compared to E26, which indicated that the present grazing pressure have been reaching the threshold of grassland capacity. Therefore, the present grazing pressure should be decreased properly in order to avoid more serious degradation.
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Alimentación Animal , Carbono/análisis , Poaceae/metabolismo , Suelo/análisis , Crianza de Animales Domésticos , Animales , Animales Domésticos , Carbono/metabolismo , China , Ecosistema , Raíces de Plantas/crecimiento & desarrollo , Raíces de Plantas/metabolismo , Poaceae/crecimiento & desarrollo , Factores de TiempoRESUMEN
OBJECTIVE: To investigate the difference between the results of using two standards(CPI and No.5 sharp probes) in the diagnosis of clinical dental caries during epidemiological survey. METHODS: The CPI and No. 5 sharp probes were used respectively for the diagnosis of clinical dental caries in the same group of children aged 12 by the two examiners. This group of children were reexamined after 14 days to compare the consistency and the rate of coincidence of the location of teeth and caries average and the prevalence rate of dental caries diagnosed by the two kinds of probes. RESULTS: The difference between the location of teeth with caries examined by the two different standards respectively by the same examiner was not statistically significant. The difference between caries average and the prevalence rate of dental caries examined with the two different standards respectively by the same examiner was also not statistically significant. The difference between the outcomes of the crossover comparison by the two examiners showed no statistical significance. CONCLUSIONS: There was no significant difference between the two diagnostic standards for caries. The outcomes of the diagnosis based on both standards shows a similarity. CPI could replace No. 5 sharp probes due to its convenience in large scale of oral health survey.
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Índice CPO , Caries Dental/diagnóstico , Niño , China/epidemiología , Caries Dental/epidemiología , Femenino , Humanos , Masculino , PrevalenciaRESUMEN
OBJECTIVE: To study the clinical effects, the merits and shortcomings of the hard palate flap in repairing postoperative defects of oral soft tissue. METHODS: The whole-palate flap pedicled with the unilateral greater palatine artery was used to repair 25 cases of oral soft tissue defects. RESULTS: Of the 25 cases, 22 flaps survived completely and 2 flaps survived partially. The postoperative appearance and functions were satisfactory. CONCLUSION: Compared with other flaps, the hard palate flap is easier to harvest and use. It has reliable blood supply and does not harm the patients' appearance and function. It is one of the most desirable methods for repairing the oral soft tissue defect.
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Procedimientos Quirúrgicos Orales/métodos , Paladar Duro/trasplante , Hueso Paladar/cirugía , Procedimientos de Cirugía Plástica/métodos , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de la Boca/cirugía , Hueso Paladar/lesiones , Colgajos QuirúrgicosRESUMEN
OBJECTIVE: To survey the prevalence of dental caries and the needs for dental treatment in Anhui province. METHODS: The survey of prevalence of dental caries in group aged 12 and 15 years in Anhui province was conducted using the non-proportional, stratified, cluster sampling method. RESULTS: DMFT in 12-year and 15-year group was 0.58 and 0.95 respectively, and permanent tooth caries prevalence rate was 30.78% and 39.78% respectively, lower than that of same age of other 11 provinces in mainland China (P < 0.01). The constituent ratio of DMFT was 90.51% (D), 2.48% (M), 7.01% (F) in 12-year group and 86.78% (D), 4.30% (M), 8.92% (F) in 15-year group. CONCLUSIONS: When we controlled dental caries in 19.98% 12-years crowd and 22.8% 15-years crowd of Anhui province, we will had controlled the occurrence of 80% caries too in group aged 12 and 15 years.
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Caries Dental/epidemiología , Adolescente , Niño , China/epidemiología , Caries Dental/prevención & control , Femenino , Humanos , Masculino , Prevalencia , MuestreoRESUMEN
OBJECTIVE: The first study on the epidemiology of oral health status in AnHui province was held. The purpose of this survey was to investigate the prevalence of dental diseases and the needs of dental treatment, so as to develop effective programs in providing dental care in children. METHODS: Non-proportional stratified cluster sampling was used for this study. RESULTS: The results showed that XDMFT in this group was 0.95, permanent caries prevalence rate was 39.78%, lower than that of the same age children in other 11 provinces in Mainland(P < 0.001). The proportion of DMFT was 86.78%(D), 4.30% (M), 8.92% (F), respectively. The caries number that needed dental care were 1842 teeth(0.78 teeth per person). CONCLUSION: The caries prevalence rate, the XDMF and the "F" were lower than the same age children in 11 provinces in Mainland and the "M" was higher.