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1.
Clin Genet ; 96(3): 207-215, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31066047

RESUMO

Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China. Cases were chosen from databases in 34 tertiary academic hospitals from 29 first-level administrative divisions (provinces, municipalities, autonomous regions, and special administrative regions), and medical records were reviewed to confirm the diagnoses. The study included 409 patients, of those patients who consented to genetic testing (n = 340), mutations were identified in 286 of them. The most common forms identified were LAMA2-related CMD (36.4%), followed by COL6-related CMD (23.2%) and α-dystroglycanopathy (21.0%). The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). We also recorded a significant difference in the diagnostic capabilities and disease management of CMD, with this being relatively backward in research centers from less developed regions. We provide, for the first time, comprehensive epidemiologic information of CMD in a large cohort of Chinese people. To our knowledge, this is the largest sample size of its kind so far highlighting the prevalence of CMD in China.

2.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(10): 1051-6, 2014 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-25344190

RESUMO

OBJECTIVE: To investigate the expression of nesfatin-1/NUCB2 and ghrelin in the gastric mucosa of rats with intrauterine growth retardation (IUGR) and its significance. METHODS: The IUGR animal model was established by feeding rats low-protein diets during their pregnancy. Newborn rats were divided into catch-up growth, non-catch-up growth and control groups. Protein and mRNA levels of nesfatin-1/NUCB2 and ghrelin in the gastric mucosa of rats were determined by RT-PCR and Western blot, respectively. RESULTS: Nesfatin-1/NUCB2 mRNA and protein were expressed in the gastric mucosa of rats immediately after birth, and their expression increased in an age-dependent manner in all three groups. Furthermore, the level of nesfatin-1/NUCB2 in the catch-up growth group was higher than that in the control group before weaning, whereas there was no significant difference in nesfatin-1/NUCB2 expression between the two groups after weaning. The level of nesfatin-1/NUCB2 in the non-catch-up growth group was lower than that in the catch-up growth group during the whole observation period. The level of ghrelin in the catch-up growth group was higher than that in the control group starting from day 12 after birth, whereas there was no significant difference in ghrelin expression between the two groups after weaning. The level of ghrelin in the non-catch-up growth group was lower compared with those in the catch-up growth and control groups from days 12 to 28 after birth. CONCLUSIONS: Nesfatin-1 and ghrelin are co-expressed in the gastric mucosa of rats with IUGR after birth and interact with each other to produce long-term nutritional regulation.


Assuntos
Proteínas de Ligação ao Cálcio/análise , Proteínas de Ligação a DNA/análise , Retardo do Crescimento Fetal/metabolismo , Mucosa Gástrica/química , Grelina/análise , Proteínas do Tecido Nervoso/análise , Fatores Etários , Animais , Proteínas de Ligação ao Cálcio/genética , Proteínas de Ligação a DNA/genética , Feminino , Grelina/genética , Masculino , Proteínas do Tecido Nervoso/genética , RNA Mensageiro/análise , Ratos , Ratos Sprague-Dawley
3.
J Pediatr Endocrinol Metab ; 25(7-8): 727-32, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23155701

RESUMO

OBJECTIVE: To explore the relationship between nesfatin-1 and growth and development in newborns. METHODS: Blood samples for nesfatin-1, ghrelin, insulinlike growth factor-1 (IGF-1), insulin and glucose were obtained from preterm (n = 53) and term infants (n = 60), including appropriate for gestational age (AGA) (n = 32) and small for gestational age (SGA) infants (n = 28). The relationship between nesfatin-1 and other metabolic hormones or anthropometric parameters was evaluated. RESULTS: The concentrations of nesfatin-1, ghrelin and insulin and the homeostasis model assessment-insulin resistance index (HOMA-IR) were higher in SGA than AGA infants (p = 0.0358, 0.0163, 0.0001 and 0.0051, respectively), but IGF-1 levels and homeostasis model assessment-insulin sensitivity index (HOMA-ISI) were lower (p = 0.033 and 0.0001, respectively). Nesfatin-1 levels in SGA infants were higher on postnatal day 0 (PNDO) than in AGA infants (p = 0.0358) and lower on PND7 (p = 0.0002) and PND28 (p = 0.0488). A negative correlation showed between nesfatin-1 and oral calorie intake (r = -0.446; p = 0.017) and HOMA-ISI (r = -0.398; p = 0.036), and a positive correlation between nesfatin-1 and HOMA-IR (r = 0.43; p = 0.023) in SGA infants. CONCLUSION: Nesfatin-1 is involved in the physiological regulation of intrauterine and postnatal growth and development in SGA infants.


Assuntos
Pesos e Medidas Corporais , Proteínas de Ligação ao Cálcio/sangue , Proteínas de Ligação a DNA/sangue , Sistema Endócrino/fisiologia , Recém-Nascido/sangue , Metabolismo/fisiologia , Proteínas do Tecido Nervoso/sangue , Antropometria , Proteínas de Ligação ao Cálcio/metabolismo , Proteínas de Ligação ao Cálcio/fisiologia , Desenvolvimento Infantil/fisiologia , Estudos de Coortes , Proteínas de Ligação a DNA/metabolismo , Proteínas de Ligação a DNA/fisiologia , Sistema Endócrino/metabolismo , Feminino , Idade Gestacional , Humanos , Recém-Nascido/crescimento & desenvolvimento , Recém-Nascido/metabolismo , Recém-Nascido Prematuro/sangue , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido Prematuro/metabolismo , Recém-Nascido Prematuro/fisiologia , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Recém-Nascido Pequeno para a Idade Gestacional/crescimento & desenvolvimento , Recém-Nascido Pequeno para a Idade Gestacional/metabolismo , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Masculino , Proteínas do Tecido Nervoso/metabolismo , Proteínas do Tecido Nervoso/fisiologia , Nascimento a Termo/sangue , Nascimento a Termo/metabolismo , Nascimento a Termo/fisiologia
4.
Wei Sheng Yan Jiu ; 41(1): 18-22, 2012 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-22443052

RESUMO

OBJECTIVE: To explore the relationship of Ghrelin, insulin-like growth factor-1 (IGF-1) and insulin with the growth and development of 2 -7 year-old children with small for gestational age (SGA) at birth. METHODS: The levels of ghrelin, IGF-1, IGFBP-3, insulin and glucose were measured in the children with preterm SGA and term SGA and compared with the children with preterm appropriate for gestational age (AGA) and term AGA. The correlation of ghrelin with IGF-1, IGFBP-3 and insulin was analyzed. RESULTS: Plasma ghrelin in preterm SGA was higher than that in term SGA (P < 0.05), and there was no significant difference between preterm SGA and preterm AGA (P > 0.05). Plasma ghrelin in preterm AGA and term SGA was higher than that in term AGA (P < 0.05, P < 0.01 respectively). Serum IGF-1 and IGFBP-3 in preterm SGA were lower than those in term SGA (P < 0.05 for all) and serum IGF-1 and IGFBP-3 in preterm AGA were much lower than those in term AGA (P < 0.0001 for all). The level of serum insulin was the highest in term SGA. The trend of insulin resistance index (IRI) was similar to insulin. There were negative correlations of ghrelin with other indexes (weight SDS, IGF-1, IGFBP-3, insulin and IRI) in preterm SGA and term SGA (in preterm SGA r = -0.683, P < 0.002; r = -0.749, P < 0.001; r = -0.828, P < 0.001; r = -0.694, P < 0.005; r = -0.822, P < 0.001; in term SGA r = -0.792, P < 0.001; r = -0.707, P < 0.002; r = -0.615, P < 0.01; r = -0.648, P < 0.005; r = -0.679, P < 0.005). CONCLUSION: Ghrelin is involved in the regulation of growth and development of preterm and SGA children, regardless of the magnitude of their catch up growth. As a re-regulatory factor to insulin, ghrelin regulates the energy metabolism in a form of negative feedback.


Assuntos
Desenvolvimento Infantil/fisiologia , Grelina/sangue , Recém-Nascido Pequeno para a Idade Gestacional , Fator de Crescimento Insulin-Like I/metabolismo , Insulina/sangue , Criança , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Masculino
5.
Zhongguo Dang Dai Er Ke Za Zhi ; 13(4): 296-9, 2011 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-21507298

RESUMO

OBJECTIVE: To study the application of tandem mass spectrometry (MS/MS) in the selective screening of inborn errors of metabolism (IEM) in high risk children and to understand the positive rate and types of IEM. METHODS: MS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province. RESULTS: Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia. CONCLUSIONS: MS/MS can be used to screen and classify IEM.


Assuntos
Erros Inatos do Metabolismo/diagnóstico , Espectrometria de Massas em Tandem/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Projetos Piloto , Risco
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