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OBJECTIVE: To study the etiology and genetic diagnosis of children with short stature. METHODS: A retrospective analysis was performed to study the etiological distribution and clinical features of 86 children with short stature. RESULTS: A total of 6 causes were observed in these children, among which idiopathic short stature (ISS, 41%) and growth hormone deficiency (GHD, 29%) were the most common causes, followed by genetic diseases (14%). There were no significant differences in age at the time of diagnosis, body height, body length and weight at birth, body height of parents and insulin-like growth factor-1 levels between the genetic disease group and the ISS/GHD groups (P>0.05). Compared with the ISS group, the genetic disease group had significantly lower deviation from the 3rd percentile for the height of children of the same age and sex (ΔP3) and height standard deviation score (P<0.05), while there were no significant differences between the genetic disease and GHD groups (P>0.05). The analysis of the clinical manifestations for the genetic disease group showed heterogeneity and phenotypic overlap in children with different genetic diseases. CONCLUSIONS: ISS, GHD and genetic diseases are major causes of short stature in children. For children with severe short stature, genetic testing should be performed to make a definitive diagnosis after GHD has been excluded.
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Testes Genéticos , Estatura , Criança , Nanismo Hipofisário , Transtornos do Crescimento , Hormônio do Crescimento Humano , Humanos , Estudos RetrospectivosRESUMO
OBJECTIVE: To study the effects of electromagnetic pulse (EMP), S-band high power microwave (S-HPM), and X-band high power microwave (X-HPM) on the Ca(2+) concentration and caspase-3 expression in Raji cells and the relationship between Ca(2+) concentration and caspase-3 expression, and to investigate the regulatory mechanism of electromagnetic radiation damage. METHODS: Raji cells were cultured conventionally. Some cells were irradiated by EMP, S-HPM, and X-HPM in the logarithmic growth phase for 6 hours and then collected; others received sham irradiation as a control. The Ca(2+) concentration in the cells was measured by laser scanning confocal microscope; the caspase-3 expression in the cells was evaluated by Western blot. RESULTS: Compared with the control group (Ca(2+) fluorescence intensity = 43.08 ± 2.08; caspase-3 expression level = 0.444 ± 0.13), the EMP,S-HPM, and X-HPM groups had significantly increased Ca(2+) concentrations, with Ca(2+) fluorescence intensities of 69.56 ± 1.71, 50.06 ± 1.89, and 70.68 ± 1.59, respectively (P < 0.01), and had upregulated caspase-3 expression, with expression levels of 0.964 ± 0.12, 0.586 ± 0.16, and 0.970 ± 0.07, respectively (P < 0.01). Each of the EMP and X-HPM groups had significantly higher Ca(2+) fluorescence intensity and caspase-3 expression level than the S-HPM group (P < 0.01), but there were no significant differences between the EMP and X-HPM groups. The linear regression analysis showed that the caspase-3 expression was upregulated as the Ca(2+) concentration increased, with a positive correlation between them (P < 0.01). CONCLUSION: EMP, S-HPM, and X-HPM cause damage probably by increasing the Ca(2+) concentration in cells and in turn inducing caspase-3 overexpression.
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Cálcio/metabolismo , Caspase 3/metabolismo , Radiação Eletromagnética , Linhagem Celular Tumoral , HumanosRESUMO
Background: The association between free triiodothyronine/free thyroxine (FT3/FT4) and non-alcoholic fatty liver disease (NAFLD) in euthyroid subjects is unclear. In addition, few studies have explored whether VAI mediates the association between FT3/FT4 ratio and NAFLD in the euthyroid population. We aimed to analyze the mediating effect of VAI on the FT3/FT4 ratio and NAFLD risk in the euthyroid population. Methods: This cross-sectional study included 7 946 annual health examinees from the Health Examination Center, Hebei General Hospital, from January to December 2020. The basic information and biochemical parameters, as well as calculated FT3/FT4 ratio and VAI were collected. NAFLD was diagnosed according to abdominal ultrasonography. The fibrosis score for NAFLD positive subjects (NFS) was calculated to reflect the extent of liver fibrosis. The risk of NAFLD was analyzed by quartiles of FT3/FT4 ratio (Q1-Q4 quartiles) and VAI (V1-V4 quartiles), respectively. Pearson correlation analysis was performed to investigate the correlation between FT3/FT4 ratio and VAI. Multivariate logistic regression analysis was applied to analyze the effect of FT3/FT4 ratio and VAI on NAFLD and NFS status. Bootstrap was conducted to explore whether VAI mediated the association between FT3/FT4 ratio and NAFLD. Results: Of the 7 946 participants, 2 810 (35.36%) had NAFLD and 5 136 (64.64%) did not. Pearson correlation analysis indicated that FT3/FT4 ratio was positively associated with VAI (P<0.05). Multivariate logistic regression analysis indicated that compared to the Q1 group, the risk of NAFLD significantly increased in Q3 group [OR=1.255, 95%CI (1.011, 1.559)] and Q4 group [OR=1.553, 95%CI (1.252, 1.926)](P<0.05). Compared to the V1 group, the risk of NAFLD notably increased in V2 group [OR=1.584, 95%CI (1.205, 2.083)], V3 group [OR=2.386, 95%CI (1.778, 3.202)] and V4 group [OR=4.104, 95%CI (2.835, 5.939)] (P<0.01). There was no relevance between FT3/FT4 ratio, VAI and NFS status. Mediating effect analysis showed that FT3/FT4 ratio significantly directly influenced NAFLD prevalence [ß=3.7029, 95%CI (2.9583, 4.4474)], and VAI partly mediated the indirect effect of the FT3/FT4 ratio on NAFLD prevalence [ß=2.7649, 95%CI (2.2347, 3.3466)], and the mediating effect accounted for 42.75% of the total effects. Conclusion: Both FT3/FT4 ratio and VAI were predictors of NAFLD, and VAI partly mediated the indirect effect of the FT3/FT4 ratio on NAFLD prevalence in the euthyroid population.
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Hepatopatia Gordurosa não Alcoólica , Tri-Iodotironina , Adiposidade , Estudos Transversais , Humanos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Fatores de Risco , TiroxinaRESUMO
The title compound, [Zn(C2H3O2)(C6H18N4)][B5O6(OH)4], contains mixed-ligand [Zn(CH3COO)(teta)]+ complex cations (teta is triethylenetetramine) and pentaborate [B5O6(OH)4]- anions. The [B5O6(OH)4]- anions are connected to one another through hydrogen bonds, forming a three-dimensional supramolecular network, in which the [Zn(CH3COO)(teta)]+ cations are located.
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AIM: To elucidate the association of Epstein-Barr virus (EBV) with colorectal tumors and to demonstrate whether infection of EBV existed in different stages of colorectal tumors involves in the carcinogenesis. METHODS: One hundred and thirty paraffin-embedded tissues of colorectal tumors were classified into 5 groups: 26 adenomas, 23 adenomas complicated with dysplasia, 22 adenomas complicated with carcinomatous, 36 colon carcinoma and 23 HNPCC, were examined by PCR, IHC and ISH, respectively. RESULTS: EBV DNA was detected by PCR in 26 cases out of the 130 specimens, including 5 cases of adenomas, 5 adenomas complicated with dysplasia, 5 adenomas complicated with carcinomatous, 7 colorectal carcinoma and 4 HNPCC. IHC detection showed the expression of LMP1 in 7 cases, including 1 adenoma, 1 adenoma with dysplasia, 1 HNPPC, 2 adenomas complicated with carcinomatous, and 2 colorectal carcinomas. The expression of EBER1 detected by ISH was positive in 6 cases, including 1 adenoma with dysplasia, 2 adenomas complicated with carcinomatous and 3 colorectal carcinomas. There were no significant differences among the results of PCR, IHC and ISH in the 5 groups. In all cases of HNPCC, none of the tumor cells showed positive signals of EBER1, but some EBV-positive tumor infiltrating lymphocytes were found in 2 of 23 cases. CONCLUSION: Our results showed that infection of EBV exists in human colorectal tumors, which indicates that EBV may be involved in the carcinogenesis of colorectal tumors but does not play an important role. The mechanisms need to be clarified further.
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Adenoma/virologia , Neoplasias Colorretais/virologia , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/diagnóstico , Herpesvirus Humano 4/isolamento & purificação , Povo Asiático , DNA Viral/análise , Herpesvirus Humano 4/genética , Humanos , Hibridização In SituRESUMO
OBJECTIVE: To investigate the relationship between Epstein-Barr virus (EBV) and the pathogenesis of human colorectal cancer. METHODS: The small-molecule RNA fragments of EBV was examined by in situ hybridization in colorectal cancer specimens obtained from 130 patients. RESULTS: EBV was found in the 6 of 130 colorectal cancer cases. EBV positivity was more prevalent in male patients (4/6), and the tumor tissues of the 4 EBV-positive cases were featured by obvious stromal infiltration by the lymphocytes (4/6). CONCLUSION: EBV infection might be related to the pathogenesis of some colorectal adenocarcinomas in China, and intensive lymphocyte infiltration in the stroma of the tumor tissues can be an important pathological indication of EBV infection in colorectal tumors.
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Neoplasias Colorretais/virologia , Herpesvirus Humano 4/isolamento & purificação , Adulto , Idoso , Neoplasias Colorretais/complicações , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/virologia , Feminino , Herpesvirus Humano 4/genética , Humanos , Hibridização In Situ/métodos , Masculino , Pessoa de Meia-Idade , RNA Viral/análiseRESUMO
Pro-protein convertase-2 (PC2) and carboxypeptidase-E (CPE) proteins are two major members of the pro-protein convertases that involve in the maturation of protein precursor. By using PC2 activity, immunocytochemistry (ICC) and Western blot method, PC2, CPE and preproNPY protein expression levels were compared among mature retina tissue, RGC-5 cells and its differentiated cells, or brain cortex tissue, NS20Y tumor cells and its differentiated cells, or mature breast tissue, breast tumor cell RM1 and breast adenocarcinoma tissue. The experimental results indicated that the differentiated cells or tissues had higher or highest PC2 activity. In the comparative experiments, more PC2 protein expression in the mature tissues and more CPE and preproNPY protein expression in the tumor cells or tumor tissue were observed, but no expression of preproNPY protein was observed in the mature tissues. Compared with NS20Y or RGC-5 undifferentiated cells, its differentiated cells showed less proPC2, more proCPE and more preproNPY protein expressions. The results demonstrated that the mature tissues showed stronger PC2/CPE-mediated pro-protein processing ability than the tumor cells or tissue. The results also showed that the artificial differentiation of RGC-5 or NS20Y cells was different from maturation of its corresponding normal tissue.
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Carboxipeptidase H/metabolismo , Diferenciação Celular , Neuropeptídeo Y/análise , Pró-Proteína Convertase 2/metabolismo , Precursores de Proteínas/metabolismo , Adenocarcinoma/enzimologia , Animais , Neoplasias da Mama/enzimologia , Carboxipeptidase H/análise , Linhagem Celular Tumoral , Córtex Cerebral/enzimologia , Camundongos , Neoplasias/enzimologia , Neoplasias/patologia , Pró-Proteína Convertase 2/análise , Precursores de Proteínas/análise , Processamento de Proteína Pós-Traducional , Ratos , Retina/enzimologiaRESUMO
OBJECTIVE: To observe the change of the neuropeptide pro-protein processing system in the ischemic retina ganglion cell-5 (RGC-5) cells, pro-protein convertase-2 (PC2), carboxypeptidase-E (CPE) and preproneuropeptide Y (preproNPY) protein levels in the ischemic RGC-5 cells and conditioned medium were analyzed. METHODS: The RGC-5 cell was differentiated in 0.1 mumol/L staurosporine for 24 h and then stressed by different doses of oxygen and glucose deprivation (OGD). The acute or chronic OGD-induced cell death rates were obtained by using PI or TUNEL staining. The protein expression levels were determined by using the Western blot method and PC2 activity analysis. RESULTS: The ischemia caused substantial cell death in an OGD dose-dependent manner. In the cells, proPC2 and preproNPY protein levels gradually increased whereas proCPE gradually decreased. After OGD, PC2 activity was decreased. In the conditioned medium, proPC2 and PC2 proteins gradually decreased whereas proCPE, CPE, and preproNPY proteins gradually increased. CONCLUSION: These results demonstrated that OGD inhibited the neuropeptide pro-protein processing system by reducing PC2 activity and the maturation of proPC2. The aggregation of the pro-proteins and the increase of the active CPE excision adversely exacerbated the cell injury. The pro-protein processing system might play a critical role in the ischemic stress of RGC-5 cells.
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Carboxipeptidase H/metabolismo , Regulação Enzimológica da Expressão Gênica/fisiologia , Neuropeptídeo Y/metabolismo , Pró-Proteína Convertase 2/metabolismo , Precursores de Proteínas/metabolismo , Células Ganglionares da Retina/metabolismo , Animais , Morte Celular/efeitos dos fármacos , Morte Celular/fisiologia , Diferenciação Celular/efeitos dos fármacos , Hipóxia Celular/efeitos dos fármacos , Hipóxia Celular/fisiologia , Linhagem Celular Transformada , Inibidores Enzimáticos/farmacologia , Regulação Enzimológica da Expressão Gênica/efeitos dos fármacos , Glucose/deficiência , Marcação In Situ das Extremidades Cortadas/métodos , Indóis , Ratos , Células Ganglionares da Retina/efeitos dos fármacos , Estaurosporina/farmacologia , Fatores de TempoRESUMO
[This retracts the article DOI: 10.1007/s12264-009-1027-8.].