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1.
Pediatr Radiol ; 51(2): 222-230, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33084963

RESUMEN

BACKGROUND: Chest computed tomography (CT) findings in children with coronavirus disease 2019 (COVID-19) have been rarely reported in a comprehensive and systematic manner. OBJECTIVE: We investigated the chest CT findings in children with COVID-19, and explored the differences in these findings between symptomatic patients and asymptomatic patients. MATERIALS AND METHODS: Demographic findings, clinical characteristics, duration of hospital stay and viral shedding, and chest CT findings in 201 children infected with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) were retrospectively analyzed from January 15 to March 20, 2020, and divided into two groups: symptomatic group (n=136) and asymptomatic group (n=65). Chi-square test and Student's t-test were used for statistical analysis. RESULTS: Symptomatic patients were mainly young children ≤3 years old (54/63, 86%),while asymptomatic patients were mainly children ≥ 6 years old (51/111, 46%). Fever (41%) and cough (41%) were the most common symptoms. Overall, 119/201 (59%) patients had chest CT findings, and symptomatic patients accounted for 82% (98/119). The CT findings presented as bilateral multiple lesions (60/119, 50.4%), ground-glass opacities (83/119, 70%) and/or consolidation (44/119, 37%) with a peripheral and subpleural distribution (62/83, 75%). Fifteen of 87 (7.2%) patients with lung lesions showed complete lesion absorption, and 42/87 (48%) improved within a mean of 9.1 (standard deviation [SD] 3.2) days. The mean duration of viral shedding was 8.7 (SD 4.9) days. Pleural effusion was very rare. No lymphadenopathy was found in either group. CONCLUSION: Symptoms associated with pulmonary involvement were most common in infants and young children. The lung lesions of most patients were absorbed and improved in about 9 days.


Asunto(s)
COVID-19/diagnóstico por imagen , COVID-19/patología , Pulmón/diagnóstico por imagen , Pulmón/patología , Tomografía Computarizada por Rayos X/métodos , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Tiempo de Internación/estadística & datos numéricos , Masculino , Estudios Retrospectivos , SARS-CoV-2 , Índice de Severidad de la Enfermedad , Esparcimiento de Virus
2.
Front Genet ; 11: 536221, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32983231

RESUMEN

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive inherited neurodegenerative disorders mainly affecting children, and at least 13 causative genes (CLN1 to CLN8 and CLN10 to CLN14) have been identified. Here, we reported a novel homozygous missense mutation (c.434G > C, p.Arg145Pro) identified in CLN5 gene via whole exome sequencing in a 5-year-old girl. The patient first presented paroxysmal epilepsy associated with vomiting, followed by progressive regression in walking, vision, intelligence and speaking. Combining the molecular and clinical analysis, the diagnosis of NCL could be made, although the missense mutation (c.434G > C, p.Arg145Pro) in CLN5 was evaluated to be a variant of uncertain significance according to American College of Medical Genetics and Genomics (ACMG) standard. We further performed expression and localization studies and our results provide evidence of impaired cellular trafficking of CLN5 to lysosome, indicating that this mutation might be deleterious to the function of CLN5 for its mislocalization. Our study demonstrated the efficacy of next generation sequencing in molecular diagnosis, and a deleterious effect of the variant discovered in our patient on CLN5, triggering the NCL disease.

3.
BMC Med ; 18(1): 123, 2020 05 06.
Artículo en Inglés | MEDLINE | ID: mdl-32370747

RESUMEN

BACKGROUND: Compared to adults, there are relatively few studies on COVID-19 infection in children, and even less focusing on the unique features of COVID-19 in children in terms of laboratory findings, locations of computerized tomography (CT) lesions, and the role of CT in evaluating clinical recovery. The objective of this study is to report the results from patients at Wuhan Children's Hospital, located within the initial center of the outbreak. METHODS: Clinical, imaging, and laboratory data of 76 children were collected retrospectively and analyzed with the Fisher exact test and Cox regression statistical methods. RESULTS: Among 50 children with a positive COVID-19 real-time reverse-transcriptase polymerase chain reaction (PCR), five had negative PCR results initially but showed positive results in subsequent tests. Eight (16%) patients had lymphopenia, seven (14%) with thrombocytopenia, four (8%) with lymphocytosis, two (4%) with thrombocytosis, ten (20%) with elevated C-reactive protein, four (8%) with hemoglobin above, and six (12%) with below standard reference values. Seven (14%) of the 50 had no radiologic evidence of disease on chest CT. For the 43 patients who had abnormal CT findings, in addition to previously reported patterns of ground-glass opacity (67%), local patchy shadowing (37%), local bilateral patchy shadowing (21%), and lesion location of lower lobes (65%), other CT features include that an overwhelming number of pediatric patients had lesions in the subpleural area (95%) and 22 of the 28 lower lobe lesions were in the posterior segment (78%). Lesions in most of the 15 patients (67%) who received chest CT at discharge were not completely absorbed, and 26% of these pediatric patients had CT lesions that were either unchanged or worse. CONCLUSIONS: There were a few differences between COVID-19 children and COVID-19 adults in terms of laboratory findings and CT characteristics. CT is a powerful tool to detect and characterize COVID-19 pneumonia but has little utility in evaluating clinical recovery for children. These results oppose current COVID-19 hospital discharge criteria in China, as one requirement is that pulmonary imaging must show significant lesion absorption prior to discharge. These differences between pediatric and adult cases of COVID-19 may necessitate pediatric-specific discharge criteria.


Asunto(s)
Infecciones por Coronavirus/diagnóstico , Neumonía Viral/diagnóstico , Betacoronavirus , COVID-19 , Niño , Preescolar , China , Infecciones por Coronavirus/diagnóstico por imagen , Infecciones por Coronavirus/terapia , Brotes de Enfermedades , Femenino , Humanos , Pulmón/diagnóstico por imagen , Masculino , Pandemias , Neumonía Viral/diagnóstico por imagen , Neumonía Viral/terapia , Reacción en Cadena en Tiempo Real de la Polimerasa , Valores de Referencia , Estudios Retrospectivos , SARS-CoV-2 , Tomografía Computarizada por Rayos X/métodos
4.
Neuroscience ; 436: 170-183, 2020 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-32059985

RESUMEN

The application of resting state functional MRI (RS-fMRI) in Parkinson's disease (PD) was widely performed using standard statistical tests, however, the machine learning (ML) approach has not yet been investigated in PD using RS-fMRI. In current study, we utilized the mean regional amplitude values as the features in patients with PD (n = 72) and in healthy controls (HC, n = 89). The t-test and linear support vector machine were employed to select the features and make prediction, respectively. Three frequency bins (Slow-5: 0.0107-0.0286 Hz; Slow-4: 0.0286-0.0821 Hz; conventional: 0.01-0.08 Hz) were analyzed. Our results showed that the Slow-4 may provide important information than Slow-5 in PD, and it had almost identical classification performance compared with the Combined (Slow-5 and Slow-4) and conventional frequency bands. Similar with previous neuroimaging studies in PD, the discriminative regions were mainly included the disrupted motor system, aberrant visual cortex, dysfunction of paralimbic/limbic and basal ganglia networks. The lateral parietal lobe, such as right inferior parietal lobe (IPL) and supramarginal gyrus (SMG), was detected as the discriminative features exclusively in Slow-4. Our findings, at the first time, indicated that the ML approach is a promising choice for detecting abnormal regions in PD, and a multi-frequency scheme would provide us more specific information.


Asunto(s)
Enfermedad de Parkinson , Corteza Visual , Encéfalo/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Enfermedad de Parkinson/diagnóstico por imagen , Descanso
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