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1.
J Hum Genet ; 69(5): 197-203, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38374166

RESUMEN

CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. However, understanding of diseases associated with CAPZA2 remains limited. To date, only three cases have been documented with neurodevelopmental abnormalities such as delayed motor development, speech delay, intellectual disability, hypotonia, and a history of seizures. In this study, we document a patient who exhibited seizures, mild intellectual disability, and impaired motor development yet did not demonstrate speech delay or hypotonia. The patient also suffered from recurrent instances of respiratory infections, gastrointestinal and allergic diseases. A novel de novo splicing variant c.219+1 G > A was detected in the CAPZA2 gene through whole-exome sequencing. This variant led to exon 4 skipping in mRNA splicing, confirmed by RT-PCR and Sanger sequencing. To our knowledge, this is the third study on human CAPZA2 defects, documenting the fourth unambiguously diagnosed case. Furthermore, this splicing mutation type is reported here for the first time. Our research offers additional support for the existence of a CAPZA2-related non-syndromic neurodevelopmental disorder. Our findings augment our understanding of the phenotypic range associated with CAPZA2 deficiency and enrich the knowledge of the mutational spectrum of the CAPZA2 gene.


Asunto(s)
Proteína CapZ , Discapacidades del Desarrollo , Epilepsia , Heterocigoto , Hipotonía Muscular , Mutación , Preescolar , Femenino , Humanos , Masculino , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Epilepsia/genética , Secuenciación del Exoma , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Hipotonía Muscular/genética , Hipotonía Muscular/patología , Fenotipo , Empalme del ARN/genética , Proteína CapZ/genética
2.
Neurochem Res ; 49(1): 184-198, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37702890

RESUMEN

The inflammatory process mediated by nucleotide-binding oligomerization domain (NOD)-like receptor family pyrin domain comprising 3 (NLRP3) inflammasome plays a predominant role in the neurological dysfunction following traumatic brain injury (TBI). SB332235, a highly selective antagonist of chemokine receptor 2 (CXCR2), has been demonstrated to exhibit anti-inflammatory properties and improve neurological outcomes in the central nervous system. We aimed to determine the neuroprotective effects of SB332235 in the acute phase after TBI in mice and to elucidate its underlying mechanisms. Male C57BL/6J animals were exposed to a controlled cortical impact, then received 4 doses of SB332235, with the first dose administered at 30 min after TBI, followed by additional doses at 6, 24, and 30 h. Neurological defects were assessed by the modified neurological severity score, while the motor function was evaluated using the beam balance and open field tests. Cognitive performance was evaluated using the novel object recognition test. Brain tissues were collected for pathological, Western blot, and immunohistochemical analyses. The results showed that SB332235 significantly ameliorated TBI-induced deficits, including motor and cognitive impairments. SB332235 administration suppressed expression of both CXCL1 and CXCR2 in TBI. Moreover, SB332235 substantially mitigated the augmented expression levels and activation of the NLRP3 inflammasome within the peri-contusional cortex induced by TBI. This was accompanied by the blocking of subsequent production of pro-inflammatory cytokines. Additionally, SB332235 hindered microglial activity induced by TBI. These findings confirmed the neuroprotective effects of SB332235 against TBI, and the involved mechanisms were in part due to the suppression of NLRP3 inflammasome activity. This study suggests that SB332235 may act as an anti-inflammatory agent to improve functional outcomes in brain injury when applied clinically.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Fármacos Neuroprotectores , Masculino , Ratones , Animales , Inflamasomas/metabolismo , Proteína con Dominio Pirina 3 de la Familia NLR/metabolismo , Fármacos Neuroprotectores/farmacología , Fármacos Neuroprotectores/uso terapéutico , Ratones Endogámicos C57BL , Lesiones Traumáticas del Encéfalo/patología
3.
BMC Urol ; 24(1): 9, 2024 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-38172803

RESUMEN

BACKGROUND: Duplication of the bladder with duplication of the posterior urethra is a relatively rare congenital malformation. Cases of sagittal septum duplication of the bladder with duplication of the posterior urethra have rarely been reported. Furthermore, the combination thereof with congenital megacolon is rare. CASE PRESENTATION: A 21-year-old male was admitted to our hospital because of frequent urination for two months. He presented to another hospital first with frequent urination and underwent computed tomography (CT) and testicular biopsy. Anti-inflammatory therapy was administered by the doctor to the patient. For further diagnosis and treatment, the patient went to the outpatient department in our hospital on June 6, 2022. After admission, the patient underwent ultrasound, CT, MRI, cystoscopy, and other related examinations and tests. The examination results suggested that the patient had duplication of the bladder with duplication of the posterior urethra. In addition, the patient's mother reported that he had suffered from long-term constipation with abdominal distension before the age of 5 years. At the time, he was admitted to the local hospital and was diagnosed with congenital megacolon based on the relevant examinations. After the patient was diagnosed with duplication of bladder and urethra, the doctor recommended surgical treatment to the patient. However, he considered that he only had frequent urination symptoms, and chose conservative treatment rather than to undergo surgical treatment. Thus, the doctor prescribed anti-inflammatory treatment. Four months later, the patient reported that frequent urination symptoms persisted, and was also considering fertility-related problems. The outpatient follow-up will be continued. CONCLUSIONS: In this article, we summarize the imaging findings of duplication of the bladder with duplication of the posterior urethra and propose the advantages and disadvantages of each type of imaging examination. We also review the relevant literature on cases of bladders with duplication of the posterior urethra. The related differential diagnosis is summarized, and the significance of guiding clinical treatment and diagnosis is discussed.


Asunto(s)
Enfermedad de Hirschsprung , Vejiga Urinaria , Masculino , Humanos , Preescolar , Adulto Joven , Adulto , Vejiga Urinaria/diagnóstico por imagen , Vejiga Urinaria/cirugía , Vejiga Urinaria/anomalías , Uretra/diagnóstico por imagen , Uretra/cirugía , Intestinos , Antiinflamatorios
4.
Acta Radiol ; 64(1): 228-236, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34964365

RESUMEN

BACKGROUND: Measurement of bone mineral density (BMD) is the most important method to diagnose osteoporosis. However, current BMD measurement is always performed after a fracture has occurred. PURPOSE: To explore whether a radiomic model based on abdominal computed tomography (CT) can predict the BMD of lumbar vertebrae. MATERIAL AND METHODS: A total of 245 patients who underwent both dual-energy X-ray absorptiometry (DXA) and abdominal CT examination (training cohort, n = 196; validation cohort, n = 49) were included in our retrospective study. In total, 1218 image features were extracted from abdominal CT images for each patient. Combined with clinical information, three steps including least absolute shrinkage and selection operator (LASSO) regression were used to select key features. A two-tier stacking regression model with multi-algorithm fusion was used for BMD prediction, which can integrate the advantages of linear model and non-linear model. The prediction results of this model were compared with those using a single regressor. The degree-of-freedom adjusted coefficient of determination (Adjusted-R2), root mean square error (RMSE), and mean absolute error (MAE) were used to evaluate the regression performance. RESULTS: Compared with other regression methods, the two-tier stacking regression model has a higher regression performance, with Adjusted-R2, RMSE, and MAE of 0.830, 0.077, and 0.06, respectively. Pearson correlation analysis and Bland-Altman analysis showed that the BMD predicted by the model had a high correlation with the DXA results (r = 0.932, difference = -0.01 ± 0.1412 mg/cm2). CONCLUSION: Using radiomics, the BMD of lumbar vertebrae could be predicted from abdominal CT images.


Asunto(s)
Densidad Ósea , Osteoporosis , Humanos , Estudios Retrospectivos , Osteoporosis/diagnóstico por imagen , Absorciometría de Fotón/métodos , Tomografía Computarizada por Rayos X/métodos , Vértebras Lumbares/diagnóstico por imagen
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(9): 1086-1092, 2023 Sep 10.
Artículo en Zh | MEDLINE | ID: mdl-37643953

RESUMEN

OBJECTIVE: To carry out Sanger sequencing for MMACHC gene variants among 65 Chinese pedigrees affected with combined methylmalonic aciduria and homocysteinemia, and summarize their genetic and clinical characteristics and prognosis. METHODS: Clinical characteristics of the 65 children identified with Methylmalonic acidemia and homocysteinemia at the Children's Hospital Affiliated to Zhengzhou University (Zhengzhou Children's Hospital) from April 2017 to April 2022 were selected as the study subjects. Potential variants of the MMACHC gene were detected by direct sequencing of the PCR products. RESULTS: The median age of the 65 children was 3 months (14 days to 17 years old). These included 28 cases (43.08%) from neonatal screening, 11 cases (16.92%) with a history of jaundice, and 9 cases (13.85%) with various degrees of anemia. The main clinical symptoms included development delay, slow growth, epilepsy, hydrocephalus, lethargy, feeding difficulty, regression or decline in motor ability, recurrent respiratory infections, anemia, jaundice, respiratory and heart failures, hydrocephalus, limb weakness, and hypertension. Blood and urine tandem mass spectrometry screening has revealed increase of methylmalonic acid, propionyl carnitine, propionyl carnitine/acetylcarnitine ratio, and propionyl carnitine/free carnitine ratio to various extents, and blood homocysteine was increased in all patients. The detection rate of genetic variants was 98.46% (128/130), and in total 22 types of MMACHC gene variants were detected. The most common ones have included c.609G>A (W203X) (58/128), c.658-660del (K220del) (19/128), and c.80A>G (Q27A) (16/128). Two novel variants have been identified, namely c.565C>T (p.R189C) and c.624_ 625delTG (p.A208Afs), which were respectively predicted as likely pathogenic (PM2_Supporting+PM3+PP2+PP3) and pathogenic (PVS1+PM2_Supporting+PM3+PP2) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Exon 4 had the highest frequency for the detection. CONCLUSION: Identification of MMACHC gene variants has confirmed the diagnosis in the children, among which the c.609G>A variant has the highest frequency. Discovery of the new variants has enriched the mutational spectrum of the MMACHC gene.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos , Hidrocefalia , Humanos , Errores Innatos del Metabolismo de los Aminoácidos/genética , Oxidorreductasas
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(12): 1521-1525, 2023 Dec 10.
Artículo en Zh | MEDLINE | ID: mdl-37994135

RESUMEN

OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members. RESULTS: Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION: This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.


Asunto(s)
Esclerosis Tuberosa , Humanos , Lactante , Masculino , Familia , Pruebas Genéticas , Genómica , Mutación , Esclerosis Tuberosa/genética , Preescolar , Pueblos del Este de Asia
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(10): 1280-1283, 2023 Oct 10.
Artículo en Zh | MEDLINE | ID: mdl-37730231

RESUMEN

OBJECTIVE: To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS). METHODS: A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed. RESULTS: The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION: The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.


Asunto(s)
Asesoramiento Genético , Pruebas Genéticas , Femenino , Humanos , Masculino , Embarazo , Canales de Cloruro/genética , Genómica , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación , Preescolar
8.
Neurochem Res ; 47(6): 1588-1597, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35181828

RESUMEN

Autism spectrum disorder (ASD) is a neurodevelopmental condition with core clinical features of abnormal communication, social interactions, atypical intelligence, and a higher risk of epilepsy. Prior work has suggested that de novo heterozygous mutations in the GRIN2B gene that encodes the GluN2B subunit of N-methyl-D-aspartic acid receptors are likely linked to ASD. However, whether GLuN2B-Trp373 mutation derived from autistic individuals causes ASD-like behavioral aberrations in rats remains to be determined. Here, through in utero electroporation and in vivo studies, we conducted a battery of tests to examine ASD-associated behaviors, cognitive impairments, and susceptibility to pentylenetetrazol-induced seizures. Whole-cell patch recording was utilized to determine whether the GluN2B-Trp373 mutation influences GluN2B-containing NMDA receptor currents in rats. Results show that, behaviorally, GLuN2B-Trp373 mutant rats exhibited core behavioral manifestations of ASD, such as social interaction deficits, increases in stereotyped behaviors and anxiety stereotyped/repetitive, impaired spatial memory, and enhanced risk of pentylenetetrazol-induced seizures, consistent with many of the hallmarks of low-functioning ASD in humans. Functionally, the GluN2B-Trp373 mutation results in reduced GluN2B surface protein expression together with decreased hippocampal NMDA receptor currents. Collectively, our findings highlight that GluN2B-Trp373 mutations can drive the manifestation of ASD-associated symptoms via the suppression of NMDA receptor currents.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Epilepsia , Animales , Trastorno del Espectro Autista/genética , Trastorno Autístico/genética , Epilepsia/inducido químicamente , Epilepsia/genética , Pentilenotetrazol/toxicidad , Fenotipo , Ratas , Receptores de N-Metil-D-Aspartato/genética , Receptores de N-Metil-D-Aspartato/metabolismo , Convulsiones/inducido químicamente , Convulsiones/genética
9.
BMC Med Imaging ; 22(1): 70, 2022 04 15.
Artículo en Inglés | MEDLINE | ID: mdl-35428272

RESUMEN

PURPOSE: To develop a clinical-radiomics nomogram by incorporating radiomics score and clinical predictors for preoperative prediction of microvascular invasion in hepatocellular carcinoma. METHODS: A total of 97 HCC patients were retrospectively enrolled from Shanghai Universal Medical Imaging Diagnostic Center and Changhai Hospital Affiliated to the Second Military Medical University. 909 CT and 909 PET slicers from 97 HCC patients were divided into a training cohort (N = 637) and a validation cohort (N = 272). Radiomics features were extracted from each CT or PET slicer, and features selection was performed with least absolute shrinkage and selection operator regression and radiomics score was also generated. The clinical-radiomics nomogram was established by integrating radiomics score and clinical predictors, and the performance of the models were evaluated from its discrimination ability, calibration ability, and clinical usefulness. RESULTS: The radiomics score consisted of 45 selected features, and age, the ratio of maximum to minimum tumor diameter, and [Formula: see text]F-FDG uptake status were independent predictors of microvascular invasion. The clinical-radiomics nomogram showed better performance for MVI detection (0.890 [0.854, 0.927]) than the clinical nomogram (0.849 [0.804, 0.893]) ([Formula: see text]). Both nomograms showed good calibration and the clinical-radiomics nomogram's clinical practicability outperformed the clinical nomogram. CONCLUSIONS: With the combination of radiomics score and clinical predictors, the clinical-radiomics nomogram can significantly improve the predictive efficacy of microvascular invasion in hepatocellular carcinoma ([Formula: see text]) compared with clinical nomogram.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/cirugía , China , Fluorodesoxiglucosa F18 , Humanos , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/cirugía , Nomogramas , Tomografía Computarizada por Tomografía de Emisión de Positrones , Estudios Retrospectivos
10.
BMC Public Health ; 22(1): 1650, 2022 08 31.
Artículo en Inglés | MEDLINE | ID: mdl-36045412

RESUMEN

BACKGROUND: To investigate the associations between overweight, obesity and sleep duration and related lifestyle behaviors in children and adolescents at different gender and educational stages. METHODS: A cross-sectional study comprising 18723 children and adolescents with a stratified cluster sampling method of Henan Province was conducted in 2019. A self-reported questionnaire was used to collect the information about demographic characteristics as well as sleep and lifestyle behaviors. Anthropometric measurements (height and weight) were taken and body mass index was computered as an indicator of overweight and obesity. The Chi-square test, one-way analysis of variance and multiple logistic regression were used to data analysis. RESULTS: Among the respondents, 12657(67.6%) were with normal weight, 3711(19.8%) were overweight and 2355(12.6%) were obesity. The average age of the participants was 12.6 years old. The proportion of overweight and obesity in the 10191 boys was 18.7% and 14.2% respectively. The proportion of overweight and obesity in the 8532 girls was 21.2% and 10.6% respectively. In trend analyses, sleep duration at different gender found with the decreased of the sleep duration, the proportions of overweight/obesity in boys and girls were gradually increased (Ptrend<0.05). In the adjusted logistic regression models, the results showed stratified by gender, compared with the recommended sleep duration group, students with very short sleep duration and short sleep duration showed an increased ORadj of 2.56 and 2.13 in boys, 2.34 and 2.09 in girls respectively. According to different educational stages, those in very short sleep duration and short sleep duration showed an increased ORadj of 2.15 and 1.69 in primary school, 2.26 and 1.58 in middle school, 2.23 and 1.51 in high school respectively. CONCLUSIONS: Children and adolescents with very short sleep duration and short sleep duration may increase the risk of overweight/obesity, the association differed based on the gender-specific and educational stages-specific. Gender and educational stages should be regarded as specific characteristics for the effects on overweight/obesity in Henan Province.


Asunto(s)
Obesidad , Sobrepeso , Adolescente , Índice de Masa Corporal , Niño , Estudios Transversales , Femenino , Humanos , Estilo de Vida , Masculino , Sobrepeso/epidemiología , Sueño
11.
BMC Public Health ; 21(1): 1157, 2021 06 16.
Artículo en Inglés | MEDLINE | ID: mdl-34134671

RESUMEN

BACKGROUND: Previous studies have shown that a certain proportion of the population did not seek medical treatment after coughing, and understanding the potential reasons is crucial for disease prevention and control. METHOD: A population-based study was conducted with the probability proportional to population size sampling in Yiwu, Zhejiang, China. A total of 5855 individuals aged ≥15 years lived in Yiwu for more than 6 months were included. All participants completed a laptop-based questionnaire to collect detailed information by a face-to-face interview. Characteristics of individuals were described by categories of health seeking behavior using frequency and percentage. Univariate and multivariate logistic regression analyses were performed to estimate the associations of social-demographic and cough characteristics with health seeking behavior. RESULTS: 19.3% (1129/5855) of participants had a cough in the past month, 40% (452/1129) had sought medical treatment. Of these, 26.5% (120/452) chose hospitals at county level or above. Individuals aged ≥65 years old (OR = 2.25, 95% CI: 1.23, 4.12), female (OR = 1.57, 95% CI: 1.21, 2.06), living in rural areas (OR = 1.30, 95% CI: 1.003, 1.69), persistent cough for 3-8 weeks (OR = 2.91, 95% CI: 1.72, 4.92) and with more accompanying symptoms (P trend < 0.001) were more likely to seek medical treatment, but those coughed for > 8 weeks were not (p > 0.5). Female (OR = 0.33, 95% CI: 0.21, 0.54) and people living in rural areas (OR = 0.57, 95% CI: 0.36, 0.92) were less likely to choose hospitals at county level or above while the higher educated were more likely to (OR = 3.29, 95% CI: 1.35, 8.02). Those who coughed for more than 2 weeks were more likely to choose hospitals at or above the county level. But the number of accompanying symptoms does not show any significant relationship with the choice of medical facility. CONCLUSION: The present study found that age, sex, living areas and features of cough were associated with health seeking behavior. It is worth noting that those who coughed for too long (e.g. > 8 weeks) were less likely to seek medical treatment. Targeted measures should be developed based on the key factors found in this study to guide persons to seek medical treatment more scientifically.


Asunto(s)
Tos , Aceptación de la Atención de Salud , Anciano , China/epidemiología , Tos/epidemiología , Estudios Transversales , Atención a la Salud , Femenino , Conductas Relacionadas con la Salud , Humanos
12.
BMC Med Genet ; 21(1): 4, 2020 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-31906877

RESUMEN

BACKGROUND: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. CASE PRESENTATION: Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect pathogenic mutation in LYST gene. The result was confirmed by two-generation pedigree analysis base on sanger sequencing. CONCLUSION: A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. Two-generation pedigree analysis showed these two mutations were inherited from the patient's parents, respectively. Our result demonstrated that amplicon sequencing has great potential for accelerating and improving the diagnosis of rare genetic diseases.


Asunto(s)
Secuencia de Aminoácidos/genética , Síndrome de Chediak-Higashi/genética , Proteínas de Transporte Vesicular/genética , Síndrome de Chediak-Higashi/patología , Niño , Preescolar , Femenino , Heterocigoto , Humanos , Lisosomas/genética , Mutación Missense , Linaje
13.
Virus Genes ; 56(2): 174-181, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31912284

RESUMEN

Genogroup II, genotype 4 noroviruses (GII.4 NoVs) are a leading cause of epidemic and sporadic acute non-bacterial gastroenteritis worldwide. In this study, we isolated a GII.4 NoV strain (designated 2015HN08) from a kid presenting with acute gastroenteritis and determined its near-complete genome sequence. We then performed sequence analysis by comparing this strain with the prototypical GII.4 strain. Virus-like particles (VLPs) derived from the major capsid protein (VP1) were expressed by using a recombinant-baculovirus expression system, and monoclonal antibodies (mAbs) were produced to compare changes in antigenic or histo-blood group antigens (HBGAs) binding sites with the previously characterized GII.4 NoV strain (JZ403). The genome of 2015HN08 was 7559 nucleotides (nt) long, excluding the poly(A) tail. Genotyping analysis indicated that this strain was a Sydney 2012 variant. In comparison with the prototype Sydney 2012 strain, there were 74, 35, and 16 differences in nucleotide sequences in ORF1, OFR2, and OFR3, causing 7, 10, and 6 amino acid (aa) changes, respectively. Expression of VP1 led to successful assembly of VLPs, as demonstrated by electron microscopy. Screening of hybridoma cell supernatants with an in vitro VLP-HBGAs binding blockade assay led to the identification of a cell clone 3G10 that exhibited HBGA-blocking effects. This mAb also exhibited blocking effects against JZ403 strain, suggesting maintenance of the antigenic site and/or HBGAs binding sites between the two strains. In summary, we determined the near-complete genome sequence of a GII.4 Sydney 2012 variant and produced an mAb with blocking effects that might be useful in evaluating the evolution of current Sydney 2012 NoV strains.


Asunto(s)
Infecciones por Caliciviridae/genética , Proteínas de la Cápside/genética , Gastroenteritis/genética , Norovirus/genética , Sitios de Unión , Infecciones por Caliciviridae/epidemiología , Infecciones por Caliciviridae/virología , Gastroenteritis/epidemiología , Gastroenteritis/virología , Genoma Viral/genética , Genómica , Genotipo , Humanos , Norovirus/patogenicidad , Pandemias , Unión Proteica
14.
Nutr J ; 19(1): 89, 2020 08 26.
Artículo en Inglés | MEDLINE | ID: mdl-32847595

RESUMEN

OBJECTIVE: To examine the type of maternal dietary patterns during pregnancy and the distribution characteristics of children's birth weight and the association between dietary patterns and neonatal birth weight in China. METHODS: Data were derived from a cross-sectional program named "The prevalence and risk factors of birth defects in Shaanxi Province" in July to November in 2013. A stratified multistage random sampling method was used to select women and their children. The mother's diet during pregnancy was investigated using semi-quantitative food frequency questionnaire (FFQ) to collect the frequency and amount of food consumption, and the newborn birth weight as well as related social demographic information was collected at the same time. In our study, 0-1 year old children and their mothers with complete dietary survey data were selected as research objects. The main dietary patterns were identified according to factor analysis, and latent class analysis (LCA) was used to investigate the social demographic factors affecting dietary patterns. The logistic regression model was used to assess the association between birth weight and maternal dietary patterns during pregnancy by establishing three adjusting models and the data were stratified for further analysis by urban-rural and regions. RESULTS: A total of 15,980 participants were involved in this study. Four dietary patterns were identified: "vegetarian pattern", "balance pattern", "traditional pattern" and "processing pattern". Compared with moderate tertile, women in the highest tertile of adherence to vegetarian pattern increased the risk of low birth weight in offspring in rural areas (OR = 1.61, 95%CI:1.06-2.93) and middle region (OR = 1.75, 95%CI:1.18-2.62), and the traditional pattern had greater odds of lower birth weight in the middle region (OR = 1.55, 95%CI:1.05-3.75). The processing pattern was found a protective factor for the occurrence of low birth weight in rural areas (OR = 0.98, 95%CI:0.43-0.99) but was a risk factor for low birth weight in the southern region (OR = 8.83, 95%CI:1.22-15.16). The balance pattern was a protective factor for the occurrence of low birth weight in the northern region(OR = 0.35, 95%CI:0.14-0.83). CONCLUSION: The vegetarian and traditional pattern may be positively related to a higher risk of low birth weight while the balanced pattern may keep birth weight of offspring within the appropriate range. Health education of balanced diet and individual nutrition guidance during pregnancy should be strengthened, to make the dietary structure during pregnancy are more reasonable, reduce the occurrence of adverse birth weight of newborns.


Asunto(s)
Dieta , Recién Nacido de Bajo Peso , Peso al Nacer , China/epidemiología , Estudios Transversales , Femenino , Humanos , Recién Nacido , Embarazo
15.
Nutr J ; 19(1): 120, 2020 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-33143697

RESUMEN

An amendment to this paper has been published and can be accessed via the original article.

16.
J Trop Pediatr ; 65(6): 547-551, 2019 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-31079146

RESUMEN

The safety of two kinds of post-marketing enterovirus 71 (EV71) vaccine in China was evaluated in this study. Fourteen vaccination clinics were randomly assigned in a 1:1 ratio, and both children in two groups were administered according to a two-dose schedule (on a 0 and 28 day schedule). Written informed consent was obtained, and recipients in this study were observed for 30 min after inoculation in the clinic, and then followed via phone or on-site follow-up at day 3 and 30. No severe EV71-associated adverse event was reported. No significant difference was noticed between Group Sinovac and Group CAMS (χz = 0.346, p = 0.556). There was no significant difference in the occurrence of adverse events among recipients aged less than 24 months; however, the proportion of adverse events was higher in Group CAMS than in Group Sinovac among the subjects aged 24-35 months (5.3% vs. 2.5%, p < 0.001). The two kinds of EV71 vaccines showed satisfactory safety. Adverse events after vaccination were normal and acceptable.


Asunto(s)
Enterovirus Humano A , Vacunas Virales/efectos adversos , Preescolar , China , Humanos , Lactante , Vacunas de Productos Inactivados/efectos adversos
17.
BMC Infect Dis ; 18(1): 92, 2018 02 23.
Artículo en Inglés | MEDLINE | ID: mdl-29471783

RESUMEN

BACKGROUND: Cross-reacting antibodies enhanced dengue infection in humans and antibody dependent enhancement (ADE) have been proposed as early mechanisms underlying DHF/DSS. However, the duration of dengue IgG antibodies in the body as well as factors associated with said duration remain unclear. METHODS: Blood samples from 59 dengue symptomatic persons and 48 asymptomatic individuals were collected. Study participant demographic information (including age in 2009, gender, and place of residence) were also collected. Serum samples were tested for dengue specific IgG by Panbio dengue IgG indirect enzyme-linked immunosorbent assay (ELISA). Chi-square tests and logistic regression analysis of dengue IgG antibodies seroprevalence divided by gender, age groups, and symptomatic or asymptomatic infection were conducted using the Statistical Package for the Social Sciences. RESULTS: Overall, 70 (65.42%) blood samples were seropositive for dengue IgG antibodies with similar seroprevalences found when dividing by gender and different age groups. However, seroprevalence of dengue IgG antibodies in samples from dengue symptomatic persons was significantly higher than that in samples from asymptomatic individuals (96.61% vs 27.08%) according to multivariable logistic regression analysis, the odds ratio (OR) of the factor was 76.731. CONCLUSIONS: Dengue IgG antibodies were detectable in samples from most individuals three years after infection. Dengue symptomatic persons had a higher dengue IgG prevalence compared to asymptomatic individuals.


Asunto(s)
Anticuerpos Antivirales/sangre , Dengue/diagnóstico , Inmunoglobulina G/sangre , Adolescente , Adulto , Anciano , Infecciones Asintomáticas/epidemiología , Niño , Preescolar , China/epidemiología , Dengue/epidemiología , Dengue/inmunología , Virus del Dengue/inmunología , Brotes de Enfermedades , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Lactante , Modelos Logísticos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Prevalencia , Adulto Joven
18.
J Formos Med Assoc ; 121(8): 1360-1362, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35039201

Asunto(s)
Ilusiones , Humanos , Taiwán
19.
BMC Public Health ; 15: 664, 2015 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-26173803

RESUMEN

BACKGROUND: An EPI (Expanded Program on Immunization) intervention package was implemented from October 2011 to May 2014 among migrant children in Yiwu, east China. This study aimed to evaluate its impacts on vaccination coverage, maternal understanding of EPI and the local immunization service performance. METHODS: A pre- and post-test design was used. The EPI intervention package included: (1) extending the EPI service time and increasing the frequency of vaccination service; (2) training program for vaccinators; (3) developing a screening tool to identify vaccination demands among migrant clinic attendants; (4) Social mobilization for immunization. Data were obtained from random sampling investigations, vaccination service statistics and qualitative interviews with vaccinators and mothers of migrant children. The analysis of quantitative data was based on a "before and after" evaluation and qualitative data were analyzed using content analysis. RESULTS: The immunization registration (records kept by immunization clinics) rate increased from 87.4 to 91.9% (P = 0.016) after implementation of the EPI intervention package and the EPI card holding (EPI card kept by caregivers) rate increased from 90.9 to 95.6% (P = 0.003). The coverage of fully immunized increased from 71.5 to 88.6% for migrant children aged 1-4 years (P < 0.001) and increased from 42.2 to 80.5% for migrant children aged 2-4 years (P < 0.001). The correct response rates on valid doses and management of adverse events among vaccinators were over 90% after training. The correct response rates on immunization among mothers of migrant children were 86.8-99.3% after interventions. CONCLUSION: Our study showed a substantial improvement in vaccination coverage among migrant children in Yiwu after implementation of the EPI intervention package. Further studies are needed to evaluate the cost-effectiveness of the interventions, to identify individual interventions that make the biggest contribution to coverage, and to examine the sustainability of the interventions within the existing vaccination service delivery system in a larger scale settings or in a longer term.


Asunto(s)
Instituciones de Atención Ambulatoria/organización & administración , Programas de Inmunización/organización & administración , Migrantes , Vacunación/métodos , Preescolar , China , Femenino , Humanos , Lactante , Capacitación en Servicio/organización & administración , Tamizaje Masivo/organización & administración , Madres , Factores de Tiempo
20.
Zhongguo Dang Dai Er Ke Za Zhi ; 17(1): 72-6, 2015 Jan.
Artículo en Zh | MEDLINE | ID: mdl-25616298

RESUMEN

OBJECTIVE: To evaluate the current status of penis and testicular development in boys and the effects of overweight/obesity on their development in the Zhengzhou area of Henan Province. METHODS: Height, weight, waist circumference, hip circumference, penis length and testicular volume were measured in 3 546 4 to 12-year-old boys. The penis length and testicular volume were compared between the overweight/obesity and normal weight groups. RESULTS: Before 9 years of age, the testicular volume was progressively smaller, and after 9 years old, it gradually increased. By the age of 11, it increased rapidly. The penis length increased gradually between 4 and 11 years of age, and after the age of 11 it increased rapidly. Phimosis was found in 144 cases (4.01%) and cryptorchidism was found in 18 cases (0.51%). A total of 639 (18.02%) boys were overweight or obese among 3 546 boys. At the ages of 6 and 7 years, the testicular volume in the overweight/obesity group was greater than in the normal control group (P<0.05). The penis length in the overweight/obesity group was significantly shorter than in the normal control group (P<0.05) by the age of 11 years. The correlation analysis showed that the testicular volume at the ages of 4 and 5 years was positively correlated with height, weight, BMI, waist circumference and hip circumference in overweight/obese boys. The penis length at the ages of 7 and 8 years was negatively correlated with weight, waist circumference and hip circumference. By the age of 12 years, the penis length was positively correlated with the height. CONCLUSIONS: The development of penis and testicles in boys in the Zhengzhou area is in line with the level of sex development of Chinese boys. Overweight/obesity adversely affects the development of penis and testicles.


Asunto(s)
Obesidad/fisiopatología , Sobrepeso/fisiopatología , Pene/crecimiento & desarrollo , Testículo/crecimiento & desarrollo , Niño , Preescolar , China , Humanos , Masculino , Obesidad/epidemiología , Sobrepeso/epidemiología
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