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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.
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
3.
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
4.
Mol Ecol ; 21(20): 5073-87, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22989375

RESUMO

Previous studies have indicated that China is one of the domestication centres of Asian cultivated rice (Oryza sativa), and common wild rice (O. rufipogon) is the progenitor of O. sativa. However, the number of domestication times and the geographic origin of Asian cultivated rice in China are still under debate. In this study, 100 accessions of Asian cultivated rice and 111 accessions of common wild rice in China were selected to examine the relationship between O. sativa and O. rufipogon and thereby infer the domestication and evolution of O. sativa in China through sequence analyses of six gene regions, trnC-ycf6 in chloroplast genomes, cox3 in mitochondrial genomes and ITS, Ehd1, Waxy, Hd1 in nuclear genomes. The results indicated that the two subspecies of O. sativa (indica and japonica) were domesticated independently from different populations of O. rufipogon with gene flow occurring later from japonica to indica; Southern China was the genetic diversity centre of O. rufipogon, and the Pearl River basin near the Tropic of Cancer was the domestication centre of O. sativa in China.


Assuntos
Produtos Agrícolas/genética , Evolução Molecular , Variação Genética , Oryza/genética , Núcleo Celular/genética , China , DNA de Cloroplastos/genética , DNA Mitocondrial/genética , DNA de Plantas/genética , Fluxo Gênico , Genética Populacional , Dados de Sequência Molecular , Tipagem de Sequências Multilocus , Filogenia
5.
Chin J Integr Med ; 15(2): 117-20, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19407949

RESUMO

OBJECTIVE: To explore the effect of auricular points sticking-pressing (APSP) in treating post-cesarean hypogalactia (PCH). METHODS: A randomized, controlled, single-blinded clinical trial on 116 patients with PCH was carried out. They were equally assigned to the treatment group and the control group. The treatment group received APSP, with the pellets pressed for 4 times daily, while the control group was only asked to do lactation to meet infant demand. The therapeutic efficacy and the changes in scores of traditional Chinese medicine (TCM) syndrome, volume of milk secretion, supplementary feeding and serum level of prolactin (PRL) in the two groups were estimated and compared after the patients had been treated for 5 days. RESULTS: The cured and markedly effective rate in the treatment group was 89.7%, which was significantly higher than that in the control group (27.6%, P<0.05), 95% CI (0.1543, 0.2527). The improvement of TCM syndrome, elevation of milking volume, decrease of the supplementary feeding and increase of PRL level revealed in the treatment group were all superior to those in the control group, showing statistical significance (P<0.01). CONCLUSION: APSP shows an apparent efficacy in treating PCH and is worthy of application in clinical practice.


Assuntos
Acupuntura Auricular/métodos , Cesárea/reabilitação , Transtornos da Lactação/terapia , Complicações Pós-Operatórias/terapia , Pontos de Acupuntura , Acupuntura Auricular/efeitos adversos , Adulto , Cesárea/efeitos adversos , Feminino , Humanos , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Lactação/fisiologia , Transtornos da Lactação/sangue , Medicina Tradicional Chinesa/efeitos adversos , Medicina Tradicional Chinesa/métodos , Leite Humano/metabolismo , Gravidez , Pressão , Prolactina/sangue , Resultado do Tratamento , Adulto Jovem
6.
Zhongguo Zhong Xi Yi Jie He Za Zhi ; 28(11): 1031-3, 2008 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-19213351

RESUMO

OBJECTIVE: To assess the clinical effect of integrative Chinese and Western medicine in treating nontumorous vulval intraepithelial lesion (NIEL). METHODS: One hundred patients of NIEL, with their diagnosis confirmed by pathologic examination, were equally assigned to two groups randomly, the treatment group and the control group. The treatment group was treated by Chinese recipe consisting of herbs for nourishing Gan-Shen, it was decocted for 3 times, the foregoing two decoctions for oral intake, and the latter one (500 mL) for hip bathing 5-10 min every night before sleep. Besides, the self-formulated preparation Jingan oil (composed of aureomycin and glycerine, etc. ), was locally applied twice every day. The control group was treated only by local applying of Jingan oil and a 5-10 min hip bathing with warm water every night. The course for both groups was 2 months. Efficacy of the treatment was assessed at the end of the therapeutic course and after a 2-month follow-up, depending on the changes of local lesion degree, vulval symptoms as pain and itching, estrogen and progestin receptors in the lesion, and the scores of symptoms. RESULTS: The total clinical effective rate was 94% (47/50) in the treatment group and 66% (33/50) in the control group. The severity of local lesion degree, symptoms of pain and itching and the scores of symptoms were significantly improved in both groups, as compared with those before treatment (all P <0.01). However, comparison between groups showed that the improvement was better in the treatment group. The positive rates of estrogen and progestin receptors in the local lesions of the two groups showed insignificantly statistical difference. CONCLUSION: The integrative medical treatment can effectively alleviate the NIEL and improve the relevant clinical symptoms.


Assuntos
Medicamentos de Ervas Chinesas/administração & dosagem , Epitélio/efeitos dos fármacos , Medicina Integrativa , Doenças da Vulva/tratamento farmacológico , Adulto , Quimioterapia Combinada , Feminino , Humanos , Pessoa de Meia-Idade , Resultado do Tratamento , Doenças da Vulva/patologia
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