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1.
Asian J Surg ; 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38641534
3.
Transfusion ; 63(6): 1195-1203, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37158235

RESUMO

BACKGROUND: In Canada the time deferral for gay, bisexual, and other men who have sex with men (gbMSM) was progressively shortened (lifetime, 5 years, 1 year, 3 months). Here we describe trends in syphilis rates (a potential sexual risk marker) and risk behaviors from blood donors in the past 12 years. STUDY DESIGN AND METHODS: Syphilis positivity in 10,288,322 whole blood donations (January 1, 2010-September 10, 2022) and gbMSM deferral time periods, donation status, age, and sex were analyzed with logistic regression. Overall, 26.9% syphilis positive and 42.2% controls (matched 1:4) participated in risk factor interviews analyzed by logistic regression. RESULTS: Syphilis rates were higher in first-time donors (OR 27.0, 95% CI 22.1-33.0), in males (OR 2.3, 1.9-2.8) and with the 3-month deferral (OR 3.4, 2.6-4.3) during which the increase was greater for first-time males (p < .001) but similar for male and female repeat donors (p > .05). Among first-time donors, histories of intravenous drug use (OR 11.7, 2.0-69.5), male-to-male sex 7.8 (2.0-30.2) and birth in a high prevalence country (OR 7.6, 4.4-13.0) predicted syphilis positivity; among repeat donors, history of male-to-male sex (OR 33.5, CI 3.5-317.0). All but 1 gbMSM syphilis-positive donors were noncompliant with the gbMSM deferral. About a quarter of first-time interviewed case donors had history of syphilis; 44% were born in a high-prevalence country. CONCLUSION: Rising syphilis rates in donors correlates with the general population epidemic. Recent infection rates rose similarly in males and females. GbMSM history may contribute to donor syphilis rates but shortening time deferrals appears unrelated.


Assuntos
Infecções por HIV , Minorias Sexuais e de Gênero , Sífilis , Humanos , Masculino , Feminino , Sífilis/epidemiologia , Homossexualidade Masculina , Doadores de Sangue , Biomarcadores
4.
Zhongguo Zhong Yao Za Zhi ; 48(6): 1446-1454, 2023 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-37005832

RESUMO

Tetramethylpyrazine is the main component of Ligusticum chuanxiong. Studies have found that tetramethylpyrazine has a good protective effect against cardiovascular diseases. In the heart, tetramethylpyrazine can reduce myocardial ischemia/reperfusion injury by inhibiting oxidative stress, regulating autophagy, and inhibiting cardiomyocyte apoptosis. Tetramethylpyrazine can also reduce the damage of cardiomyocytes caused by inflammation, relieve the fibrosis and hypertrophy of cardiomyocytes in infarcted myocardium, and inhibit the expansion of the cardiac cavity after myocardial infarction. In addition, tetramethylpyrazine also has a protective effect on the improvement of familial dilated cardiomyopathy. Besides, the mechanisms of tetramethylpyrazine on blood vessels are more abundant. It can inhibit endothelial cell apoptosis by reducing oxidative stress, maintain vascular endothelial function and homeostasis by inhibiting inflammation and glycocalyx degradation, and protect vascular endothelial cells by reducing iron overload. Tetramethylpyrazine also has a certain inhibitory effect on thrombosis. It can play an anti-thrombotic effect by reducing inflammatory factors and adhesion molecules, inhibiting platelet aggregation, and suppressing the expression of fibrinogen and von Willebrand factor. In addition, tetramethylpyrazine can also reduce the level of blood lipid in apolipoprotein E-deficient mice, inhibit the subcutaneous deposition of lipids, inhibit the transformation of macrophages into foam cells, and inhibit the proliferation and migration of vascular smooth muscle cells, thereby reducing the formation of atherosclerotic plaque. In combination with network pharmacology, the protective mechanism of tetramethylpyrazine on the cardiovascular system may be mainly achieved through the regulation of phosphatidylinositol 3 kinase/protein kinase B(PI3K/Akt), hypoxia-inducible factor 1(HIF-1), and mitogen-activated protein kinase(MAPK) pathways. Tetramethylpyrazine hydrochloride and sodium chloride injection has been approved for clinical application, but some adverse reactions have been found in clinical application, which need to be paid attention to.


Assuntos
Infarto do Miocárdio , Trombose , Camundongos , Animais , Células Endoteliais/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Miocárdio/metabolismo , Miócitos Cardíacos , Inflamação , Apoptose
5.
Artigo em Inglês | MEDLINE | ID: mdl-37008576

RESUMO

Background: A multi-country outbreak of monkeypox virus (MPXV) infections was identified by the World Health Organization in May 2022. The western Canadian province of Alberta identified its first case of MPXV in a returning traveller on June 2, 2022. We undertook a retrospective testing exercise to evaluate whether MPXV may have been circulating in the province earlier. Methods: Skin (genital and non-genital) and mucosal lesion swabs submitted for herpes simplex virus (HSV)/varicella zoster virus (VZV)/syphilis testing from male patients attending sexually-transmitted infection clinics across the province of Alberta from January 28 to May 30, 2022 were retrieved from storage. The population tested was selected based on the epidemiology of the current 2022 multi-country MPXV outbreak. Samples underwent viral nucleic acid extraction and testing for the presence of Orthopoxvirus DNA using a commercial real-time polymerase chain reaction (PCR) kit. Results: A total of 392 samples (representing 341 unique individuals of median age 31 years) were retrieved. Of them, 349 (89.0%) samples were submitted for HSV/VZV/syphilis testing, 13 (3.3%) for HSV/VZV only, and 30 (7.7%) for syphilis PCR only. None of the 392 samples tested were found to be positive for Orthopoxvirus DNA. Conclusions: The results of this study indicate that circulation of MPXV in a higher-risk population in Alberta, prior to the first case, was less likely. We recommend that other provinces/territories review their local epidemiology, context and resources prior to conducting similar studies.


Historique: En mai 2022, l'Organisation mondiale de la Santé a déclaré une flambée multinationale d'infection par le virus de la variole simienne (MPXV). Le 2 juin 2022, la province de l'Alberta, dans l'Ouest canadien, a recensé son premier cas de MPXV chez un voyageur de retour de l'étranger. Les chercheurs ont entrepris un exercice de dépistage rétrospectif pour évaluer la possibilité que le MPXV ait circulé auparavant dans la province. Méthodologie: Les chercheurs ont extrait de l'entreposage les écouvillons des lésions cutanées (génitales et non génitales) et muqueuses soumis en vue de dépister le virus herpès simplex (VHS), le virus varicelle-zona (VZV) et le virus de la syphilis des patients de sexe masculin qui avaient fréquenté les cliniques d'infections transmises sexuellement de la province de l'Alberta entre le 28 janvier et le 30 mai 2022. Ils ont sélectionné la population soumise au dépistage en fonction de l'épidémiologie de la flambée multinationale de MPXV en 2022. Les écouvillons ont été soumis à l'extraction et au test des acides nucléiques viraux pour dépister la présence d'ADN de l'Orthopoxvirus au moyen d'un test commercial d'amplification en chaîne par polymérase (PCR). RÉsultats: Les chercheurs ont extrait un total de 392 échantillons (représentant 341 personnes uniques d'un âge médian de 31 ans). De ce nombre, 349 (89,0 %) avaient été soumis au test PCR du VHS, du VZV et de la syphilis, 13 (3,3 %), du VHS et du VZV seulement et 30 (7,7 %), de la syphilis seulement. Aucun des 392 échantillons n'a donné de résultat positif à l'ADN de l'Orthopoxvirus. Conclusions: D'après les résultats de la présente étude, il est peu probable que le MPXV ait circulé dans la population plus vulnérable de l'Alberta avant la détection du premier cas. Les chercheurs recommandent que les autres provinces et territoires examinent leur épidémiologie locale, le contexte et les ressources avant de procéder à des études de ce type.

9.
Front Pediatr ; 9: 627337, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33834010

RESUMO

Objective: Lung auscultation plays an important role in the diagnosis of pulmonary diseases in children. The objective of this study was to evaluate the use of an artificial intelligence (AI) algorithm for the detection of breath sounds in a real clinical environment among children with pulmonary diseases. Method: The auscultations of breath sounds were collected in the respiratory department of Shanghai Children's Medical Center (SCMC) by using an electronic stethoscope. The discrimination results for all chest locations with respect to a gold standard (GS) established by 2 experienced pediatric pulmonologists from SCMC and 6 general pediatricians were recorded. The accuracy, sensitivity, specificity, precision, and F1-score of the AI algorithm and general pediatricians with respect to the GS were evaluated. Meanwhile, the performance of the AI algorithm for different patient ages and recording locations was evaluated. Result: A total of 112 hospitalized children with pulmonary diseases were recruited for the study from May to December 2019. A total of 672 breath sounds were collected, and 627 (93.3%) breath sounds, including 159 crackles (23.1%), 264 wheeze (38.4%), and 264 normal breath sounds (38.4%), were fully analyzed by the AI algorithm. The accuracy of the detection of adventitious breath sounds by the AI algorithm and general pediatricians with respect to the GS were 77.7% and 59.9% (p < 0.001), respectively. The sensitivity, specificity, and F1-score in the detection of crackles and wheeze from the AI algorithm were higher than those from the general pediatricians (crackles 81.1 vs. 47.8%, 94.1 vs. 77.1%, and 80.9 vs. 42.74%, respectively; wheeze 86.4 vs. 82.2%, 83.0 vs. 72.1%, and 80.9 vs. 72.5%, respectively; p < 0.001). Performance varied according to the age of the patient, with patients younger than 12 months yielding the highest accuracy (81.3%, p < 0.001) among the age groups. Conclusion: In a real clinical environment, children's breath sounds were collected and transmitted remotely by an electronic stethoscope; these breath sounds could be recognized by both pediatricians and an AI algorithm. The ability of the AI algorithm to analyze adventitious breath sounds was better than that of the general pediatricians.

10.
J Ethnopharmacol ; 268: 113595, 2021 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-33212175

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: As a traditional Chinese medicine, Taraxacum mongolicum has been widely used for the prevention and treatment of a variety of inflammatory and infectious diseases, and also clinically used as a remedy for mastitis. However, the scientific rationale and mechanism behind its use on mastitis in vivo are still unclear. AIM OF THE STUDY: This study aimed to investigate the protective effect and potential mechanism of Taraxacum mongolicum Hand.-Mazz. (T. mongolicum) on mastitis infected by Staphylococcus aureus (S. aureus). MATERIALS AND METHODS: Female ICR mice were given intragastrically 2.5, 5 and 10 g/kg of T. mongolicum extract twice per day for 6 consecutive days, and infected with S. aureus via teat canal to induce mastitis. Pro-inflammatory cytokine tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6) and interleukin-1ß (IL-1ß) levels were determined by ELISA. Myeloperoxidase (MPO) activity and distribution were measured by reagent kit and immunohistochemistry. Histopathological changes of mammary gland tissues were observed by H&E staining. Toll-like receptor 2 (TLR2) expression, phosphorylations of related proteins in nuclear factor-kappa B (NF-κB) and mitogen-activated protein kinases (MAPKs) signaling pathways were detected by western blot. RESULTS: T. mongolicum decreased TNF-α, IL-6 and IL-1ß levels, and reduced MPO activity and distribution in sera and mammary glands with S. aureus-infected mastitis. In addition, T. mongolicum effectively attenuated histopathological damages and cell necrosis of mammary gland tissues infected by S. aureus. Moreover, T. mongolicum inhibited the expression of TLR2, and the phosphorylations of inhibitor κBα (IκBα), p65, p38, extracellular signal-regulated kinase 1/2 (ERK1/2) and c-Jun N-terminal kinase (JNK) proteins in mammary glands with S. aureus-infected mastitis. CONCLUSIONS: This study suggests that T. mongolicum protects against S. aureus-infected mastitis by exerting anti-inflammatory role, which is attributed to the inhibition of TLR2-NF-κB/MAPKs pathways.


Assuntos
Anti-Inflamatórios/uso terapêutico , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Mastite/tratamento farmacológico , NF-kappa B/antagonistas & inibidores , Infecções Estafilocócicas/tratamento farmacológico , Taraxacum , Receptor 2 Toll-Like/antagonistas & inibidores , Animais , Anti-Inflamatórios/isolamento & purificação , Anti-Inflamatórios/farmacologia , Relação Dose-Resposta a Droga , Feminino , Lactação/efeitos dos fármacos , Lactação/metabolismo , Sistema de Sinalização das MAP Quinases/fisiologia , Mastite/metabolismo , Mastite/microbiologia , Camundongos , Camundongos Endogâmicos ICR , NF-kappa B/metabolismo , Extratos Vegetais/isolamento & purificação , Extratos Vegetais/farmacologia , Extratos Vegetais/uso terapêutico , Distribuição Aleatória , Infecções Estafilocócicas/metabolismo , Staphylococcus aureus/efeitos dos fármacos , Staphylococcus aureus/fisiologia , Receptor 2 Toll-Like/metabolismo
11.
J Assoc Med Microbiol Infect Dis Can ; 5(3): 187-192, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36341312

RESUMO

Toxoplasmosis is an uncommon congenital infection in Canada, but one with potentially severe clinical manifestations, including fetal death. Neurologic and ocular manifestations are frequent in untreated disease; however, small eye size (microphthalmia) is a rare finding. This finding may be a marker of severe ocular disease. As universal screening does not occur in Canada, clinicians' early recognition is imperative, particularly given the lack of risk factors in many patients and the benefit that treatment may have even in initially asymptomatic disease. Here, we report a case of congenital toxoplasmosis and review the diagnostics and treatment of the infection.


La toxoplasmose est une infection congénitale rare au Canada, mais au potentiel de manifestations cliniques graves, y compris la mort fœtale. Les manifestations neurologiques et oculaires sont fréquentes lorsque la maladie n'est pas traitée, et dans de rares cas, on remarque des globes oculaires de petite dimension (microphtalmie). Cette observation peut être un marqueur de maladie oculaire grave. Il n'y a pas de dépistage universel au Canada, mais il est impératif que les cliniciens reconnaissent rapidement la maladie, notamment en raison de l'absence de facteurs de risque chez de nombreux patients et des avantages potentiels des traitements lorsque la maladie est d'abord asymptomatique. Les auteurs déclarent un cas de toxoplasmose congénitale et analysent les diagnostics et le traitement de l'infection.

13.
Cancer Biol Med ; 10(2): 110-3, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23882427

RESUMO

Non-parasitic hepatic cysts with biliary communication are rare. The clinical symptoms involved are not specific to this condition, thereby making diagnosis difficult and treatment controversial. Here, we report a case of 70-year-old woman complaining of abdominal satiety, combined with non-specific pain in the right upper quadrant. The abdominal contrast-enhanced MRI-scan revealed a large and thick-walled septus cystic lesion in the liver. During operation, the biliary fistula was confirmed in the cyst cavity. A silica gel tube was inserted via the cystic duct for cholangiography, which demonstrated communication between the cyst and biliary tract. We performed wide-scale cyst wall resection; the biliary fistula was completely repaired by the closure of communicated bile ducts. The postoperative course was uneventful, and the patient was discharged with no sign of cholangitis or any other symptoms. The novel surgical management via wide resection of the cyst wall and closure of biliary communication proved to be an adequate and effective procedure for treating nonparasitic hepatic cysts with biliary communication.

14.
Asian Pac J Cancer Prev ; 14(2): 1003-7, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23621176

RESUMO

OBJECTIVE: This work aimed to investigate the correlations of tumor-associated macrophages (TAMs) and their subtypes M1 and M2 with liver metastasis of colorectal cancer, and provide useful references for seeking predictors of liver metastasis and studying mechanisms. METHODS: 120 patients with colorectal cancer from 2000 to 2009 were divided into low, middle and high liver metastasis groups (group A, B and C, respectively). S-P immunohistochemical staining and microscopic observation were conducted to compare expression in CD68- positive cells (TAMs), CD80-positive cells (M1) and CD163-positive cells (M2) in three groups. Correlations of TAMs, M1, M2, and M2/M1 ratio with clinical and pathological parameters were analyzed. RESULTS: With increase of liver metastatic ability, the number of TAMs decreased gradually, with no significant difference between any two of the three groups (P > 0.05), while the numbers of M1 and M2 were significantly decreased and increased, respectively, with significant difference between any two of three groups (P < 0.05 or P < 0.01). In addition, the M2/M1 ratio increased with increase of liver metastatic ability (P < 0.01). There was no statistical significance of correlation of TAMs with each clinical and pathological parameter. M1 was negatively related with lymphatic metastasis and liver metastatic ability. M2 was positively correlated with preoperative CEA level, lymphatic metastasis, tumor differentiation degree and liver metastatic ability. The same was the case for the M2/M1 ratio. CONCLUSIONS: Effects of TAMs on liver metastasis of colorectal cancer do not depend on the total number of TAMs, but on the number and proportion of functional subtypes M1 and M2. M2 number and M2/ M1 ratio are more accurate predictors for liver metastasis of colorectal cancer.


Assuntos
Neoplasias Colorretais/imunologia , Neoplasias Hepáticas/imunologia , Neoplasias Hepáticas/secundário , Macrófagos/imunologia , Adolescente , Adulto , Idoso , Antígenos CD/metabolismo , Antígenos de Diferenciação Mielomonocítica/metabolismo , Antígeno B7-1/metabolismo , Antígeno Carcinoembrionário/sangue , Neoplasias Colorretais/cirurgia , Feminino , Humanos , Fígado/imunologia , Fígado/patologia , Neoplasias Hepáticas/cirurgia , Macrófagos/classificação , Masculino , Pessoa de Meia-Idade , Receptores de Superfície Celular/metabolismo , Adulto Jovem
15.
Cancer Lett ; 290(2): 204-10, 2010 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-19822391

RESUMO

The aim of this study was to observe the effect of interferon alpha (IFNalpha) on tumor endothelial cells (TECs) in highly metastatic hepatocellular carcinoma (HCC) model, and to investigate the underlying mechanism. Nude mice with HCC xenograft were treated with IFNalpha. Gene expression profiles of TECs were analyzed by utilizing cDNA microarray. The differentiation of tumor blood vessels was evaluated by CD31/alphaSMA dual immunohistochemistry. Apoptosis of TECs was determined by CD31/TUNEL double staining. The functions of TECs in adhesion and uptake of acetylated low-density lipoprotein were observed in vitro. Results showed that IFNalpha effectively inhibited HCC tumor growth, with decreased microvessel density, increased apoptosis in TECs and normalized tumor blood vessels. cDNA microarray analysis revealed differential gene expression patterns in TECs under the treatment of IFNalpha. The cell-cell contact distribution of VE-Cadherin and uptake of acetylated low-density lipoprotein were significantly inhibited by IFNalpha in cultivated TECs. These results suggest that IFNalpha may induce apoptosis and interfere with hemophilic adhesion of TECs. The changes of gene expression in TECs contribute essentially to its effect of anti-angiogenesis and the subsequent inhibition of tumor progression.


Assuntos
Inibidores da Angiogênese/farmacologia , Apoptose/efeitos dos fármacos , Carcinoma Hepatocelular/tratamento farmacológico , Interferon-alfa/farmacologia , Neoplasias Hepáticas Experimentais/tratamento farmacológico , Neovascularização Patológica/tratamento farmacológico , Animais , Carcinoma Hepatocelular/irrigação sanguínea , Carcinoma Hepatocelular/patologia , Adesão Celular/efeitos dos fármacos , Linhagem Celular Tumoral , Células Endoteliais/efeitos dos fármacos , Imunofluorescência , Expressão Gênica , Perfilação da Expressão Gênica , Humanos , Imuno-Histoquímica , Marcação In Situ das Extremidades Cortadas , Neoplasias Hepáticas Experimentais/irrigação sanguínea , Neoplasias Hepáticas Experimentais/patologia , Masculino , Camundongos , Camundongos Nus , Análise de Sequência com Séries de Oligonucleotídeos , Ensaios Antitumorais Modelo de Xenoenxerto
16.
Zhonghua Wai Ke Za Zhi ; 47(20): 1529-31, 2009 Oct 15.
Artigo em Chinês | MEDLINE | ID: mdl-20092738

RESUMO

OBJECTIVE: To analyze the influencing factors affecting intrahepatic distant recurrence after radiofrequency ablation (RFA) for primary hepatic cancer. METHODS: Eighty patients with primary hepatic tumors underwent RFA treatment between January 2002 and June 2005 were retrospectively analyzed. There were 49 males and 31 females aged from 34 to 84 years old. The tumor size was less than 5 cm and no more than 3 nodules. Univariate analysis and multivariate analysis were used to evaluate the risk factors for intrahepatic distant recurrence after RFA. RESULTS: The cumulative rates of intrahepatic distant recurrence were 6.3%, 32.0%, and 67.3% at 1, 3, and 5 years, respectively. Univariate analysis revealed that pretreatment serum AFP level of >or= 50 microg/L (P = 0.029), decarboxy prothrombin (DCP) level of >or= 40 mAu/ml (P = 0.004), ablative margin of < 1 cm (P = 0.035), prothrombin time activity percent target of < 70% (P = 0.012), and poor Child-Pugh grade (P = 0.002) were related to intrahepatic distant recurrence. A multivariate analysis revealed that pretreatment serum AFP and DCP level, ablative margin and Child-Pugh grade were independent risk factors for intrahepatic distant recurrence. CONCLUSIONS: Primary liver cancer patients with high serum AFP, DCP and poor Child-Pugh grade before RFA should be carefully followed up to monitor any intrahepatic distant recurrence. A sufficient ablative margin in RFA for primary liver cancer is required to prevent recurrence.


Assuntos
Carcinoma Hepatocelular/cirurgia , Ablação por Cateter , Neoplasias Hepáticas/cirurgia , Recidiva Local de Neoplasia/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Retrospectivos , Fatores de Risco
18.
Zhonghua Fu Chan Ke Za Zhi ; 40(10): 685-8, 2005 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-16277901

RESUMO

OBJECTIVE: To evaluate the effects of the selected phages with the specific peptide ligands upon the biological behaviors of the ovarian cancer cells. METHODS: Two ovarian cancer cell lines, A2780 and SKOV3, were used in the study. They were divided into three groups respectively: study group, blank control group and negative control group. The effects of the phages were evaluated by trypan blue staining, flow cytometry, colony formation test, methyl thiazolyl tetrazolium (MTT) assay and Boyden chamber invasion assay. RESULTS: The average viability of ovarian cancer cells of study groups was (72.1 +/- 6.2)%, higher than that of negative control group (84.8 +/- 4.6, P < 0.05); the apoptosis ratio of the A2780 and SKOV3 cells of study groups increased (20.39% and 43.99% vs 0); the average colony formation rate of the ovarian cancer cells was of study groups 4%, lower than the control group (15%, P < 0.05); the inhibition rates of cell proliferation of A2780 and SKOV3 cells of study groups were 11.07% and 9.58%, significantly higher than that of their respective negative control (2.05% and 1.09%); the invasion index of the ovarian cancer cells decreased compared with the control. CONCLUSION: The selected phages down-regulate the growth, proliferation and invasion ability of the ovarian cancer cells to certain extent, the identified peptide ligands may play a role in tumorigenesis and metastatic transformation of ovarian cancers.


Assuntos
Apoptose , Bacteriófagos/genética , Proliferação de Células , Biblioteca de Peptídeos , Bacteriófagos/crescimento & desenvolvimento , Linhagem Celular Tumoral , Sobrevivência Celular , Feminino , Citometria de Fluxo , Humanos , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/virologia
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 22(5): 554-6, 2005 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-16215947

RESUMO

OBJECTIVE: To study the genetic heterogeneity of autosomal dominant polycystic kidney disease (ADPKD) in Chinese. METHODS: Using polymerase chain reaction (PCR) and non-denatured polyacrylamide gel electrophoresis, the authors analyzed eight microsatellite markers closely linked to PKD1 or PKD2 genes respectively in a Chinese ADPKD family. RESULTS: Seven informative markers were found in this family, including KG8, SM6, CW4 and CW2 which are tightly linked to PKD1, and D4S1563, D4S414 and D4S423 which are linked to PKD2. After the process of genotyping, the haplotypes were estimated with Cyrillic 2.0, and the linkage-based analysis suggested that the disease is not linked to PKD1 other than PKD2. CONCLUSION: In China this non-PKD1 family is the second one, but it is the first reported PKD2 family showing the genetic heterogeneity of ADPKD in Chinese. In the family the affected mother transmits the disease and the affected members' phenotypes are eterogeneous. In addition, the existing "anticipation" and the presence of the disease in a child of this family suggest that non-PKD1 linked families may have early-onset of the disease in child.


Assuntos
Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/genética , Adulto , Povo Asiático/genética , Criança , Pré-Escolar , China , Saúde da Família , Feminino , Haplótipos/genética , Humanos , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Linhagem , Rim Policístico Autossômico Dominante/etnologia , Reação em Cadeia da Polimerase
20.
Wei Sheng Yan Jiu ; 34(3): 293-6, 2005 May.
Artigo em Chinês | MEDLINE | ID: mdl-16111033

RESUMO

OBJECTIVE: To study the expression of sHsps in normal palate and cleft palate during mouse embryogenesis. METHODS: At GD10, gestational mice of the treatment and the control were administered with 80 mg/kg retinoic acid and the same volume vegetable oil separately, and the normal palate and cleft palate of embryos were harvested in GD15-GD17. The relative abundance of sHsps of all samples was measured by reverse transcript polymerase chain reaction (RT-PCR). RESULTS: In the normal limbs, except that there is no expression of Hspb10 at GD17, all the other Hsps expressed obviously in GD15-GD17. To the normal palates, the expressional abundance of Hsp20, Hsp25, Hsp27, Hsp32, Hspb2, Hspb3, Hspb7 was stable, that of Hsp30, Hspb5 was increased following the embryos aging, and the expressional peak of Hsp10, Hsp22, Hspb4 occurred at GD16. In GD15-GD17, the expressional abundance of Hsp30, Hsp32, Hspb4, Hspb10 of the cleft palates was higher than that of the normal palates, but the expressional abundance of Hsp60, Hspb5, Hspb9 of the cleft palates was lower than that of the normal palates. The expressional models of Hspb9, Hspb 10 of the normal palates were different from those of the cleft palates obviously. CONCLUSION: Except that there is no expression of HspblO at GD17, all the other Hsps expressed obviously in GD15-GD17 during normal clefts' development. To different Hsps, there is different expressional characteristic. Hsp30, Hsp32, Hspb4, Hspb10 maybe play a protective role in the stress action of cleft palate, and Hsp10, Hsp60, Hspb5, Hspb9, Hspb10 were maybe relative to cleft palate.


Assuntos
Fissura Palatina/embriologia , Fissura Palatina/genética , Proteínas de Choque Térmico/metabolismo , Animais , Fissura Palatina/induzido quimicamente , Fissura Palatina/metabolismo , Embrião de Mamíferos/embriologia , Embrião de Mamíferos/metabolismo , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Proteínas de Choque Térmico/genética , Masculino , Camundongos , Camundongos Endogâmicos ICR , Tretinoína
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