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1.
Clin Dysmorphol ; 29(2): 81-85, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32097174

RESUMO

Congenital dermoid inclusion cyst (CDIC) over the anterior fontanel is a rare and benign tumor. This study reports nine Chinese cases (three females and six males) with CDIC over the anterior fontanel. The clinical manifestations and imaging were analyzed retrospectively. Surgical resection was undertaken in all cases. The diagnosis of CDIC over the anterior fontanel was confirmed by histological examination. The cysts were all noticed soon after birth and enlarged gradually. They were soft, nontender with a sessile base without inflammatory signs and breaking. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed soft tissue mass over the anterior fontanel without intracranial extensions. The histopathological examination displayed stratified squamous epithelium with skin appendages. There were no complications or recurrence after operation during a follow-up for one year. CDIC over the anterior fontanel is a benign tumor. Imaging is recommended preoperatively to aid differential diagnosis. The main management is total excision with good prognosis.

2.
Medicine (Baltimore) ; 99(4): e18887, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31977897

RESUMO

INTRODUCTION: MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, which is responsible for encoding nonmuscle myosin heavy chains IIA (NMMHCIIA). MYH9-RD is clinically characterized by congenital macrothrombocytopenia, granulocyte inclusions variably associated with the risk of developing progressive sensorineural deafness, cataracts and nephropathy. PATIENT CONCERNS: A 5-year-old boy had a history of a mild bleeding tendency and chronic thrombocytopenia, first identified at four months of age. No other family members were noted to have similar clinical features or hematologic disorders. DIAGNOSES: The boy was diagnosed with MYH9-RD. Light microscopic examination of peripheral blood films (Wright-Giemsa stain) showed marked platelet macrocytosis with giant platelets and basophilic Döhle-like inclusions in 83% of the neutrophils. Immunofluorescence analysis disclosed a type II pattern, manifested by neutrophils which contained several circle-to-oval shaped cytoplasmic NMMMHCA-positive granules. Sequencing analysis of MYH9-RD genes was carried out and revealed a novel missense mutation of c.97T>G (p.W33G) in the patient but not in his parents. INTERVENTION: No treatment is necessary. Recognition of MYH9-RD is important to Avoiding unnecessary and potentially harmful treatments. OUTCOMES: The patient's condition remained stable during the follow-up. CONCLUSIONS: As a result of identifying this missense mutation in this particular case, we have added c.97T>G (p.W33G) to the broad spectrum of potential MYH9 mutations.


Assuntos
Perda Auditiva Neurossensorial/genética , Trombocitopenia/congênito , Pré-Escolar , Imunofluorescência , Perda Auditiva Neurossensorial/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Mutação de Sentido Incorreto , Neutrófilos/patologia , Trombocitopenia/diagnóstico , Trombocitopenia/genética
3.
BMC Med Genet ; 20(1): 165, 2019 10 28.
Artigo em Inglês | MEDLINE | ID: mdl-31660881

RESUMO

BACKGROUND: Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly progress to chronic kidney disease (CKD) and end-stage kidney disease (ESRD). Genetic research is of great significance for diagnosis and treatment. More than 39 recessive or dominant genes have been found to cause human SRNS, including COQ2. COQ2 gene mutations not only cause primary coenzyme Q10 deficiency but also cause SRNS without extrarenal manifestations. The concept of COQ2 nephropathy has been proposed for a long time. Mutations in the COQ2 gene have rarely been reported. Worldwide, only 5 cases involving 4 families have been reported. CASE PRESENTATION: We present the case of a 6-month-old girl with steroid-resistant glomerulopathy due to a COQ2 defect with no additional systemic symptoms. The patient was identified as a homozygote for the c.832 T > C (p. Cys278Arg) missense mutation and a single base homozygous mutation in ARSB gene in c.1213 + 1G > A. The father and mother were heterozygous mutation carriers in both COQ2 and ARSB, and her healthy sister was only a heterozygous mutation carrier in COQ2. In this case, hormone therapy was ineffective, and progressive deterioration of renal function occurred within 1 week after onset, leading to acute renal failure and eventual death. CONCLUSIONS: We reported a consanguinity married family which had COQ2 and ARSB dual mutant. Kidney diseases caused by COQ2 gene mutations can manifest as SRNS, with poor prognosis. The C. 832 T > c (p.csc 278arg) is a new mutation site. Genetic assessment for children with steroid-resistant nephrotic syndrome, especially in infancy, is very important. Families with a clear family history should receive genetic counselling and prenatal examinations, and children without a family phenotype should also receive genetic screening as early as possible.


Assuntos
Alquil e Aril Transferases/genética , Consanguinidade , Casamento , Metilprednisolona/uso terapêutico , Mutação , N-Acetilgalactosamina-4-Sulfatase/genética , Síndrome Nefrótica/genética , Resistência a Medicamentos , Evolução Fatal , Feminino , Triagem de Portadores Genéticos , Homozigoto , Humanos , Lactente , Masculino , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/terapia , Linhagem , Diálise Peritoneal
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 769-772, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400124

RESUMO

OBJECTIVE: To explore the characteristics of differentially methylated genes and gene ontology associated with neural tube defects (NTDs). METHODS: Twelve subjects from 3 NTDs pedigrees were enrolled. Patients with NTDs have served as the case group, while their family members with normal phenotypes have served as the control group. Genomic DNA was extracted from peripheral venous blood samples of the families and used for DNA methylation analysis. Pairwise comparison was carried out primarily for patient-offspring pairs, and co-segregation of methylation pattern with NTDs was analyzed. Pathway related to differentially methylated genes was predicted with DAVID software. RESULTS: Pairwise comparison indicated that VTRNA2-1 was the only gene in which all CpG sites were methylated. Co-segregation of VTRNA2-1 gene methylation with NTDs was found in all pedigrees. Pathways of hypermethylated genes included plasma membrane component, regulation of cellular protein metabolic process, and regulation of actin cytoskeleton organization, while the pathways of hypomethylated genes have included transcription regulator activity, cell adhesion, and neuronal differentiation. CONCLUSION: Methylation of the VTRNA2-1 gene has co-segregated with NTDs in the studied pedigrees. The pathways of differentially methylated genes has involved with mechanism of neural tube development.


Assuntos
Metilação de DNA , MicroRNAs/genética , Defeitos do Tubo Neural/genética , Ilhas de CpG , Ontologia Genética , Humanos , Linhagem
5.
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
6.
Urology ; 117: 142-144, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29608939

RESUMO

Yolk sac tumor (YST) is a rare malignancy typically occurring in children. However, bilateral testicular YSTs are a quite rare situation, which can occur metachronously or synchronously with same histologic type, as well as different histology. We present a case of synchronous YST of the left testis and mature teratoma of the right in a 7-month-old infant treated with testis-sparing surgery at right testis and high radical orchiectomy at left. By follow-up of 28th month, no atrophy, or residual tumor in right testis and no recurrence or evidence of disease in left scrotum was found.


Assuntos
Tumor do Seio Endodérmico/patologia , Neoplasias Primárias Múltiplas/patologia , Teratoma/patologia , Neoplasias Testiculares/patologia , Tumor do Seio Endodérmico/diagnóstico por imagem , Tumor do Seio Endodérmico/cirurgia , Humanos , Lactente , Masculino , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Neoplasias Primárias Múltiplas/cirurgia , Tratamentos com Preservação do Órgão , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/cirurgia
8.
Childs Nerv Syst ; 34(4): 725-729, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29392422

RESUMO

PURPOSE: Neural tube defects (NTDs) are one of the most prevalent and the most severe congenital malformations worldwide. Studies have confirmed that folic acid supplementation could effectively reduce NTDs risk, but the genetic mechanism remains unclear. In this study, we explored association of single nucleotide polymorphisms (SNP) within folate metabolic pathway genes with NTDs in Han population of Northern China. METHODS: We performed a case-control study to compare genotype and allele distributions of SNPs in 152 patients with NTDs and 169 controls. A total of 16 SNPs within five genes were genotyped by the Sequenom MassARRAY assay. RESULTS: Our results indicated that three SNPs associated significantly with NTDs (P<0.05). For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively). For rs1801133 within MTHFR, NTDs risk markedly increased in patients with allele T or genotype TT (OR=1.552, 95%CI=1.130~2.131; OR=2.344, 95%CI=1.233~4.457, respectively). For rs1801394 within MTRR, children carrying allele G and genotype GG had a higher NTDs risk (OR=1.533, 95%CI=1.102~2.188; OR=2.355, 95%CI=1.044~5.312, respectively). CONCLUSIONS: Our results suggest that rs2236225 of MTHFD1 gene, rs1801133 of MTHFR gene and rs1801394 of MTRR gene were associated with NTDs in Han population of Northern China.


Assuntos
Ácido Fólico/genética , Predisposição Genética para Doença/genética , Redes e Vias Metabólicas/genética , Defeitos do Tubo Neural/etnologia , Defeitos do Tubo Neural/genética , Polimorfismo de Nucleotídeo Único/genética , Aminoidrolases/genética , Criança , Pré-Escolar , China , Feminino , Ferredoxina-NADP Redutase/genética , Formiato-Tetra-Hidrofolato Ligase/genética , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Metilenotetra-Hidrofolato Desidrogenase (NADP)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Complexos Multienzimáticos/genética , Estudos Retrospectivos
9.
Childs Nerv Syst ; 34(2): 277-284, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28770393

RESUMO

PURPOSE: Neural tube defects (NTDs) are common congenital malformations. In this study, we aimed to explore the association between single nucleotide polymorphisms (SNPs) related to one-carbon metabolism (OCM) and NTDs in Han population of Northern China. METHODS: A case-control study was conducted in 152 children with NTDs and 169 controls. Twenty-nine SNPs in five genes were genotyped by Sequenom MassARRAY technology, and haplotype analysis was done by Haploview4.2 software. RESULTS: The allele frequency of rs3733890 in betaine-homocysteine methyltransferase (BHMT) gene was statistically different between NTDs and control groups (P = 0.041), and the children with A allele had higher risk for NTDs than G allele (OR = 1.408, 95%CI 1.013-1.956). In addition, there was a statistical difference in the allele and genotype frequencies of rs1051266 in reduced folate carrier1 (RFC1) gene between cases and controls (P = 0.013, 0.034), and the risk for NTDs was also higher in children with G allele and GG genotype, compared with A allele and AA genotype, respectively (OR = 1.492, 95%CI 1.089-2.044; OR = 2.020, 95%CI 1.081-3.780). The statistical significant difference was also found in allele frequency of rs1805087 in methionine synthetase (MTR) gene between cases and controls (P = 0.031), and the children with G allele were associated with an increased NTDs risk, compared with A allele (OR = 1.664, 95%CI 1.045-2.647). Meanwhile, haplotype analysis showed C-A-A-A haplotype of BHMT, and G-G-G-T haplotype of RFC1 was correlated with an increased risk of NTDs, but C-G-A-A haplotype of BHMT and G-G-C-A haplotype of MTR might decrease the risk of NTDs. CONCLUSIONS: The BHMT gene rs3733890, RFC1 gene rs1051266 and MTR gene rs1805087 were associated with the occurrence of NTDs in Han population of Northern China. It was confirmed that the gene variation related to OCM was one of the susceptibility factors for NTDs.


Assuntos
Carbono/metabolismo , Estudos de Associação Genética/métodos , Redes e Vias Metabólicas/genética , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Estudos de Casos e Controles , Criança , China/epidemiologia , Feminino , Humanos , Masculino , Defeitos do Tubo Neural/epidemiologia
10.
Neurol Sci ; 38(12): 2153-2164, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28980068

RESUMO

Neural tube defects (NTDs) are a complex trait associated with gene-environment interactions. Folic acid deficiency and planar cell polarity gene mutations account for some NTD cases; however, the etiology of NTDs is still little understood. In this study, in three Han Chinese NTD pedigrees (two with multiple affected children), with no information on folic acid deficiency or supplement, we examined genome-wide methylation profiles of each individual in these families. We further compared methylation status among cases and normal individuals within the pedigrees. A unique methylation pattern co-segregated with affected status: NTD cases had more hypermethylated than hypomethylated CpG islands; genes with different methylations clustered in pathways associated with epithelial-to-mesenchymal transition (ZEB2, SMAD6, and CDH23), folic acid/homocysteine metabolism (MTHFD1L), transcription/nuclear factors (HDAC4, HOXB7, SOX18), cell migration/motility/adhesion, insulin and cell growth, and neuron/axon development. Although the genetics of NTD are likely complex, epigenetic changes may concentrate in certain key pathways.


Assuntos
Metilação de DNA , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/metabolismo , Grupo com Ancestrais do Continente Asiático/genética , China , Ilhas de CpG , Família , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Masculino , Defeitos do Tubo Neural/cirurgia , Linhagem
16.
Zhonghua Zheng Xing Wai Ke Za Zhi ; 25(5): 321-4, 2009 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-20030103

RESUMO

OBJECTIVE: To investigate the development, distribution and GLUT-1 expression of infantile hemangioma and to discuss the early surgical intervention for better results and avoiding severe complication. METHODS: The lesion site of each case was recorded and analyzed by SPSS V13.0 to study the distribution. The operation was guided by the principle of plastic surgery to remove the hemangioma. The GLUT-1 expression was detected by immunohistochemical technique in all the resected samples. RESULTS: All the results were satisfactory. The GLUT-1 expression was positive in all the cases. The incidences in different sites were significantly different (P < 0.05). 71.7% of the hemangiomas were located at upper and lower lip, periorbital region and facial midline. It indicates that hemangioma is not randomly distributed. Most of them were located at the fusion of facial prominences during embryological development. CONCLUSIONS: Infantile facial hemangioma maybe originated from endothelial progenitor cells of placenta which migrate and implant on the fusion of facial prominences. Early surgical intervention is one of the best choice for infantile facial hemangioma.


Assuntos
Face/patologia , Transportador de Glucose Tipo 1/metabolismo , Hemangioma/patologia , Hemangioma/cirurgia , Criança , Pré-Escolar , Feminino , Hemangioma/metabolismo , Humanos , Lactente , Masculino
19.
Ai Zheng ; 25(7): 906-10, 2006 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-16831288

RESUMO

BACKGROUND & OBJECTIVE: Polymorphisms of human leukocyte antigen (HLA) gene play an important role in the development of cervical cancer. This study was to screen single nucleotide polymorphisms (SNPs) of HLA-DQA1 gene involved in susceptibility of cervical cancer by a bioinformatics approach, and analyze their correlations to abnormal gene functions. METHODS: SNPs of HLA-DQA1 were screened from a public database dbSNP by SNPper software, and relevant FASTA subsequences were also obtained from dbSNP. PARSESNP software was used to analyze cSNPs. RESULTS: Two SNPs, rs9272693 and rs9272703, which may induce mis-sense mutation, were identified in codon region of HLA-DQA1 gene. A PSSM difference>10 was used to predict deleterious mutation. CONCLUSIONS: SNPper software in combination with PARSESNP software could be used to analyze SNPs of HLA-DQA1 gene and select the variants in a conserved region, and it provides an evaluation criterion. But the results need to be verified in cervical cancer patients and control populations.


Assuntos
Antígenos HLA-DQ/genética , Polimorfismo de Nucleotídeo Único , Neoplasias do Colo do Útero/genética , Bases de Dados como Assunto , Feminino , Predisposição Genética para Doença , Cadeias alfa de HLA-DQ , Humanos , Software
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