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1.
Exp Ther Med ; 18(5): 3737-3740, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31656537

RESUMO

Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied to identify pathogenic gene variants responsible for ID. The present report described a 1.7-year-old female patient who had severe ID with the specific features of delayed motor development, language disorders and abnormal facial features. Exome analysis identified a novel pathogenic variant of the SETD5 gene [c.2025_2026delAG (p.Gly676Valfs*2)]. The variant was a frameshift mutation, causing termination of the protein in advance. These findings indicated that this mutation of the SETD5 gene may be a genetic cause for ID. The present study aimed to provide a meaningful exploration of ID and the identification of clinical core genetic pedigrees.

2.
Turk Pediatri Ars ; 54(2): 125-128, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31384148

RESUMO

Teratoma is a rare tumor of the central nervous system that belongs to intracranial germ cell tumors. We report a 2-month-old male child with an immature teratoma of the posterior fossa. Physical and laboratory examinations were normal. Though a radiologic examination was characteristic for this neoplasm, it was insufficient to make a definite diagnosis. Combining the radiologic findings with a histopathologic examination contributed to diagnosing immature teratoma and differentiating it from other subtypes of intracranial germ cell tumors. Our aim was to provide a greater understanding of immature teratoma by reporting this case.

3.
Ital J Pediatr ; 45(1): 37, 2019 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-30867013

RESUMO

BACKGROUND: Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So the study aimed to explore the association between alterations in maternal one-carbon metabolism and NTDs in the offspring. METHODS: We conducted a case-control study to get a deeper insight into this association, as well as into the role of genetic polymorphisms. Plasma concentrations of folate, homocysteine (Hcy), S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) and genotypes and alleles distributions of 52 SNPs in 8 genes were compared for 61 women with NTDs-affected offspring and 61 women with healthy ones. RESULTS: There were significant differences between groups with regard to plasma folate, SAM, SAH and SAM/SAH levels. Logistic regression results revealed a significant association between maternal plasma folate level and risk of NTDs in the offspring. For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). For MTHFR rs1801133 polymorphism, mothers having TT and CT genotypes were more likely to affect NTDs in the offspring (OR = 4.105, 95%CI: 1.271-13.258; OR = 3.333, 95%CI: 1.068-10.400). Moreover, mothers carrying T allele had a higher risk of NTDs in the offspring (OR = 1.798, 95%CI: 1.070-3.021). For MTRR rs1801394 polymorphism, the frequency of G allele was significantly higher in cases than in controls (OR = 1.763, 95%CI: 1.023-3.036). Mothers with NTDs-affected children had higher AG genotype in RFC1 rs1051226 polymorphism than controls, manifesting an increased risk for NTDs (OR = 3.923, 95%CI: 1.361-11.308). CONCLUSION: Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs.


Assuntos
Deficiência de Ácido Fólico/genética , Predisposição Genética para Doença/epidemiologia , Defeitos do Tubo Neural/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Carbono/metabolismo , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , China , Feminino , Ferredoxina-NADP Redutase/genética , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/epidemiologia , Marcadores Genéticos/genética , Genótipo , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Metilenotetra-Hidrofolato Desidrogenase (NADP)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Antígenos de Histocompatibilidade Menor/genética , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/fisiopatologia , Razão de Chances , Gravidez , Valores de Referência
4.
Zhongguo Dang Dai Er Ke Za Zhi ; 21(2): 139-143, 2019 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-30782275

RESUMO

OBJECTIVE: To investigate the molecular epidemiological characteristics of norovirus (NoV) among children with acute gastroenteritis in Tianjin in 2017. METHODS: A total of 758 stool specimens were collected from the children with acute gastroenteritis possibly caused by viral infection in Tianjin Children's Hospital between January and December, 2017. Quantitative real-time RT-PCR was used for primary screening of NoV, and conventional RT-PCR was used for gene amplification, sequencing and genotype identification of the VP1 region of capsid protein in positive specimens. RESULTS: Among the 758 specimens, 241 (31.8%) were found to have GII NoV. Sequencing of the VP1 region of capsid protein in positive specimens showed that among the 241 specimens with GII NoV, 69 (28.6%) had GII.4 subtype, 51 (21.2%) had GII.3 subtype, 24 (10.0%) had GII.2 subtype, and 18 (7.5%) had other subtypes. There was a significant difference in NoV detection rate between different age groups (P=0.018), and the 1- <4 years group had the highest NoV detection rate (37.3%). There was also a significant difference in NoV detection rate across seasons (P<0.001), and there was a highest NoV detection rate in winter (48.1%). Twenty-seven children (3.6%) had co-infections with NoV and rotavirus. CONCLUSIONS: NoV is one of the major pathogens of the children with acute gastroenteritis from Tianjin in 2017. GII genotype, especially GII.4 subtype, is the prevalent strain. NoV infection is commonly seen in children less than 4 years and reaches the peak in winter. Some children are found to have co-infections with rotavirus.


Assuntos
Gastroenterite , Norovirus , Infecções por Caliciviridae , Criança , China/epidemiologia , Fezes , Gastroenterite/epidemiologia , Genótipo , Humanos , Epidemiologia Molecular , Filogenia , RNA Viral , Análise de Sequência de DNA
5.
Turk Neurosurg ; 29(6): 957-960, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29757453

RESUMO

Intracranial medulloepithelioma is an extremely rare and highly malignant fast-growing tumor that shows a propensity to spread widely throughout the central nervous system. It most commonly occurs in infants and young children. We report a rare case of 2-year-old female patient with a large mass lesion diagnosed as medulloepithelioma. Although radiological examination was characteristic for the neoplasm, it was not sufficient to make a definite diagnosis. However, when it was combined with histopathological examination, we could diagnose medulloepithelioma and differentiate it from other central nervous system tumors. We intend to provide greater understanding and knowledge of intracranial medulloepithelioma by reporting this case.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Tumores Neuroectodérmicos Primitivos/diagnóstico por imagem , Tumores Neuroectodérmicos Primitivos/cirurgia , Pré-Escolar , Feminino , Humanos
6.
Pediatr Neurosurg ; 53(6): 401-406, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30391955

RESUMO

Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system. Bilateral lateral ventricle CPP is extremely uncommon. In this case report, we described a case of bilateral lateral ventricle CPP in a 4-month-old female patient conceived by in vitro fertilization (IVF). Neurological examination and imaging were performed. In neurological examination, meningeal irritation signs and sunset phenomenon were positive. Brain computed tomography (CT) and magnetic resonance imaging (MRI) displayed masses located in the trigone of the bilateral lateral ventricle with hydrocephalus. Contrast-enhanced MRI showed intense homogeneous enhancement. The diagnoses of bilateral lateral ventricle CPP related to hydrocephalus and extravasation of cerebrospinal fluid (CSF) were made. Repeated surgical procedures via parietotemporal craniotomy were performed, and the diagnosis was confirmed by histopathology examination. The patient presented with delayed development during a follow-up period of 1 year. In conclusion, imaging is an effective approach of investigation. CPP could be highly suspected according to the features of hydrocephalus, lobulated appearance, and homogeneous enhancement on imaging. Total surgical removal is a valid curative method for CPP.


Assuntos
Neoplasias do Ventrículo Cerebral/cirurgia , Ventrículos Laterais/diagnóstico por imagem , Ventrículos Laterais/patologia , Papiloma do Plexo Corióideo/diagnóstico por imagem , Papiloma do Plexo Corióideo/patologia , Neoplasias do Ventrículo Cerebral/patologia , Feminino , Fertilização In Vitro , Humanos , Hidrocefalia/líquido cefalorraquidiano , Hidrocefalia/patologia , Hidrocefalia/cirurgia , Lactente , Ventrículos Laterais/cirurgia , Imagem por Ressonância Magnética , Papiloma do Plexo Corióideo/cirurgia , Tomografia Computadorizada por Raios X
7.
Zhongguo Dang Dai Er Ke Za Zhi ; 19(7): 763-769, 2017 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-28697828

RESUMO

OBJECTIVE: To investigate the relationship of KI polyomavirus (KIPyV) and WU polyomavirus (WUPyV) with acute respiratory infection in children in Tianjin, China. METHODS: A total of 3 730 nasopharyngeal secretions were collected from hospitalized children with acute respiratory infection in Tianjin Children's Hospital from January 2011 to December 2013. Viral nucleic acid was extracted, and virus infection (KIPyV and WUPyV) was determined by PCR. Some KIPyV-positive and WUPyV-positive PCR products were subjected to sequencing. Sequencing results were aligned with the known gene sequences of KIPyV and WUPyV to construct a phylogenetic tree. Amplified VP1 fragments of KIPyV were inserted into the cloning vector (PUCm-T) transformed into E. coli competent cells. Positive clones were identified by PCR and sequencing. The nucleotide sequences were submitted to GenBank. In addition, another seven common respiratory viruses in all samples were detected by direct immunofluorescence assay. RESULTS: In the 3 730 specimens, the KIPyV-positive rate was 12.14% (453/3 730) and the WUPyV-positive rate was 1.69% (63/3 730). The mean infection rate of KIPyV was significantly higher in June and July, while the mean infection rate of WUPyV peaked in February and March. Most of the KIPyV-positive or WUPyV-positive children were <3 years. The co-infections with KIPyV, WUPyV, and other respiratory viruses were observed in the children. The co-infection rate was 2.31% (86/3 730) and there were nine cases of co-infections with WUPyV and KIPyV. Thirty-five KIPyV-positive and twelve WUPyV-positive PCR products were sequenced and the alignment analysis showed that they had high homology with the known sequences (94%-100% vs 95%-100%). The VP1 gene sequences obtained from two KIPyV strains in this study were recorded in GenBank with the accession numbers of KY465925 and KY465926. CONCLUSIONS: For some children with acute respiratory infection in Tianjin, China, the acute respiratory infection may be associated with KIPyV and WUPyV infections. KIPyV infection is common in summer, and WUPyV infection in spring. The epidemic strains in Tianjin have a high homology with those in other regions.


Assuntos
Polyomavirus/isolamento & purificação , Infecções Respiratórias/virologia , Doença Aguda , Adolescente , Criança , Feminino , Humanos , Masculino , Epidemiologia Molecular , Polyomavirus/genética , Infecções por Polyomavirus/epidemiologia
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