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1.
Support Care Cancer ; 31(3): 153, 2023 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-36746815

RESUMO

BACKGROUND: Cancer-related fatigue is a widely prevalent global public health concern with serious consequences. Increasing evidence suggests the effectiveness of exercise intervention in treating cancer-related fatigue, but there is a lack of a summary of relevant literature on the same to help reach a clear consensus. OBJECTIVE: To summarize evidence regarding the efficacy of exercise interventions to reduce cancer fatigue, as determined in systematic reviews (SRs) and/or meta-analyses (MAs). METHOD: From inception to September 2022, PubMed (1948-2022), Embase (1974-2022), Cochrane Library (1993-2022), CINAHL (1937-2022), Web of Science (1997-2022), China Knowledge Resource Integrated Database (1999-2022), Wanfang Database (1993-2022), and Chinese Biomedical Database (1994-2022) were searched for inclusion to the study. Two reviewers independently extracted the data from the included articles. AMSTAR II was to evaluate the methodological quality of the reviews. RESULTS: A total of 46 systematic reviews were assessed for data on exercise intervention in reducing cancer-related fatigue among cancer patients. In addition, some studies have reported adverse events during the exercise intervention period. The quality of the included systematic review was found to be low or critically low. CONCLUSIONS: The present systematic review of systematic reviews supports exercise intervention for reducing cancer-related fatigue. Further higher-quality studies are warranted to improve the level of evidence for exercise interventions for application in the treatment of cancer-related fatigue.


Assuntos
Fadiga , Neoplasias , Humanos , China , Terapia por Exercício , Fadiga/etiologia , Fadiga/terapia , Neoplasias/complicações , Revisões Sistemáticas como Assunto
2.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(1): 91-97, 2021 Jan.
Artigo em Zh | MEDLINE | ID: mdl-33476544

RESUMO

OBJECTIVE: To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis. METHODS: The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family. RESULTS: Forty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including SLC25A13 gene variation in 3 patients who were diagnosed with citrin deficiency, JAG1 gene variation in 3 patients who were diagnosed with Alagille syndrome, ABCB11 gene variation in 3 patients who were diagnosed with progressive familial intrahepatic cholestasis type 2, HSD3B7 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, AKR1D1 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, NPC1 gene variation in 1 patient who was diagnosed with Niemann-Pick disease, and CFTR gene variation in 1 patient who was diagnosed with cystic fibrosis. CONCLUSIONS: The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.


Assuntos
Colestase Intra-Hepática , Citrulinemia , Síndrome de Alagille/genética , Criança , Colestase Intra-Hepática/genética , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Proteínas de Transporte da Membrana Mitocondrial , Mutação
3.
Adv Wound Care (New Rochelle) ; 13(3): 140-152, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37823751

RESUMO

Significance: Venous leg ulcers (VLUs) are the most common venous disease, mainly presenting as open skin lesions on the legs or feet and are an important concern in clinical care settings. Recent Advances: Comprehensive tactics were employed to search electronic databases PubMed, Embase, guideline databases, and society websites were searched for Clinical Practice Guidelines (CPGs) on VLU care. The basic information, recommendations for the VLUs, methodological quality, and reporting quality of VLU's CPGs were extracted and captured in Excel. The quality of each CPG was independently assessed by four researchers using AGREE II instrument and the RIGHT checklist. Critical Issues: This study included 19 CPGs with a combined 23 recommendations. The assessment of VLUs was summarized based on the recommendations of VLUs in 11 major items; six on VLU's diagnosis and six on therapeutic strategies of VLUs. The identified CPGs were of mixed quality, and the highest score based on the scope and purpose was 82.85 ± 11.66, whereas the lowest mean score based on the editorial independence by AGREE II was 59.93 ± 21.50. Regarding the RIGHT checklist, field one (basic information) had the highest reporting rate (84.33%), whereas field five (review and quality assurance) had the lowest quality of CPGs (41.11%). Future Directions: This evidence map provided new perspectives in the presentation of evidence. In addition, the evidence map collected and evaluated the characteristics of published CPGs. Thus, the evidence map enhances our knowledge and promotes the development of trustworthy CPGs for VLUs.


Assuntos
Úlcera Varicosa , Humanos , Úlcera Varicosa/terapia , , Bases de Dados Factuais
4.
World J Pediatr ; 19(10): 939-948, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37022658

RESUMO

BACKGROUND: Good quality of care for inflammatory bowel disease (IBD) depends on high-standard management and facility in the IBD center. Yet, there are no clear measures or criteria for evaluating pediatric IBD (PIBD) center in China. The aim of this study was to develop a comprehensive set of quality indicators (QIs) for evaluating PIBD center in China. METHODS: A modified Delphi consensus-based approach was used to identify a set of QIs of structure, process, and outcomes for defining the criteria. The process included an exhaustive search using complementary approaches to identify potential QIs, and two web-based voting rounds to select the QIs defining the criteria for PIBD center. RESULTS: A total of 101 QIs (35 structures, 48 processes and 18 outcomes) were included in this consensus. Structure QIs focused on the composition of multidisciplinary team, facilities and services that PIBD center should provide. Process QIs highlight core requirements in diagnosing, evaluating, treating PIBD, and disease follow-up. Outcome QIs mainly included criteria evaluating effectiveness of various interventions in PIBD centers. CONCLUSION: The present Delphi consensus developed a set of main QIs that may be useful for managing a PIBD center. Video Abstract.


Assuntos
Doenças Inflamatórias Intestinais , Humanos , Criança , Consenso , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/terapia , China
5.
Environ Pollut ; 301: 118990, 2022 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-35181451

RESUMO

Exposure to green space has been proposed to be beneficially associated with cardiovascular morbidity and mortality. Many studies have explored this topic, but the results remain conflicting. We aimed to evaluate the epidemiological evidence on this topic by performing a systematic review with meta-analysis. We searched PubMed, Web of Science and Embase for studies on the association between green space and cardiovascular disease (CVD) that were published till January 2022. Two authors independently performed study selection, data extraction, quality assessment, and risk of bias assessment. For studies providing detailed numeric data, we also conducted quantitative meta-analyses and calculated the pooled odd ratios (ORs) for associations between the most commonly used exposure estimate (normalized difference vegetative index [NDVI]) and five CVD events: CVD mortality, ischemic heart disease (IHD) mortality, cerebrovascular disease (CBVD) mortality, and stroke incidence/prevalence. Additional analyses were conducted to explore the geographical scale effects of NDVI. Publication bias tests were also conducted. Of the 6787 records identified, 53 studies were eligible for inclusion. These studies covered 18 countries and included data from more than 100 million persons. Meta-analyses showed that a 0.1 increase in NDVI was significantly associated with 2-3% lower odds of CVD mortality (OR: 0.97, 95% CI: 0.96-0.99), IHD mortality (OR: 0.98, 95% CI: 0.96-1.00), CBVD mortality (OR: 0.98, 95% CI: 0.97-1.00), and stroke incidence/prevalence (OR: 0.98, 95% CI: 0.96-0.99). There was no significant difference between the pooled estimates for different buffer sizes. No evidence of publication bias was detected. We provide strong and robust evidence for the beneficial effects of green space exposure on cardiovascular health. More prospective studies and mechanistic studies, especially that conducted in low- and middle-income countries, are merited to strengthen our conclusions.


Assuntos
Doenças Cardiovasculares , Isquemia Miocárdica , Acidente Vascular Cerebral , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/mortalidade , Humanos , Isquemia Miocárdica/epidemiologia , Isquemia Miocárdica/mortalidade , Parques Recreativos , Estudos Prospectivos , Acidente Vascular Cerebral/epidemiologia
6.
World J Clin Cases ; 9(19): 5280-5286, 2021 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-34307579

RESUMO

BACKGROUND: Glycogen storage disease type Ib (GSD-Ib) is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease (IBD), especially Crohn's disease (CD)-like colitis. Although biological agents are effective for treating CD, their application in the treatment of GSD-Ib with CD-like colitis has been rarely reported. CASE SUMMARY: A 13-year-old Han male was diagnosed with GSD-Ib with CD. The patient was treated with granulocyte colony-stimulating factor. When he had symptoms of CD-like colitis, he was continuously pumped with enteral nutrition and administered oral mesalazine for 2 wk; however, the symptoms did not improve significantly. Hence, infliximab (IFX) was administered. Hitherto, the patient has been followed up for 1 year, and no clinical manifestations have been observed. After 6 mo of treatment (fifth IFX treatment), the disease activity index and all inflammatory indexes decreased, and a review of the colonoscopy data showed that the ulcers appeared smooth. CONCLUSION: In this study, the patient was successfully treated with IFX. In cases of GSD-Ib, IBD should be highly considered.

7.
Zhongguo Zhen Jiu ; 40(4): 405-10, 2020 Apr 12.
Artigo em Zh | MEDLINE | ID: mdl-32275370

RESUMO

OBJECTIVE: To observe the effect of early intervention of bone-nearby acupuncture (BNA) combined with electroacupuncture (EA) on the expression of histone deacetylase1(HDAC1), histone deacetylase 2 (HDAC2) andµ-opioid recepter (MOR) in dorsal root ganglia (DRG) of bone cancer pain-morphine tolerance (BCP-MT) rats, and to explore its possible mechanism. METHODS: A total of 35 SD rats were randomized into a sham BCP group (n=6), a BCP group (n=7), a MT group (n=7), a BNA+EA group (n=8) and a shame BNA group (n=7). Except of the sham BCP group, cancer cell inoculation operation at left tibia was given in the other 4 groups to establish the bone cancer pain model. In the MT group, the BNA+EA group and the shame BNA group, intraperitoneal injection of morphine hydrochloride was given to establish the morphine tolerance model. After the operation, bone-nearby acupuncture combined with electroacupuncture was applied at "Zusanli" (ST 36) and "Kunlun" (BL 60) in the BNA+EA group, with dilatational wave, 2 Hz/100 Hz in frequency, 0.5 to 1.5 mA in intensity. Intervention in the shame BNA group was applied at the same time and acupoints as those in the BNA+EA group, the needles were pierced the skin without any electrical stimulation. The needles were retained for 30 min, once a day for continuous 7 days in both BNA+EA and shame BNA groups. Before and 10, 11, 15, 22 days after the operation, the left paw withdrawal threshold (PWT) was measured in the 5 groups. The levels of HDAC1, HDAC2 and MOR in DRG were detected by Western blot. RESULTS: Ten days after the cancer cell inoculation operation, the PWT of the BCP, MT, BNA+EA and sham BNA groups was decreased compared with the sham BCP group (P<0.01). Eleven days after the operation, the PWT of the MT, BNA+EA and sham BNA groups was increased compared with the BCP group (P<0.01). Twenty-two days after the operation, the difference was no significant between the BCP group and MT group (P>0.05); the PWT of the BNA+EA group was increased compared with the MT and sham BNA group (P<0.01). In the BCP group, the DRG levels of HDAC1 and HDCA2 were increased, while the level of MOR was decreased compared with the sham BCP group (P<0.05, P<0.01). In the MT group, the DRG level of HDAC1 was increased compared with the BCP group (P<0.05). In the BNA+EA group, the DRG level of HDAC1 was decreased compared with the MT group and the sham BNA group (P<0.01, P<0.05), while the level of MOR was increased (P<0.01). CONCLUSION: Early intervention of bone-nearby acupuncture combined with electroacupuncture can relieve the morphine tolerance in bone cancer pain rats, it may relate to down-regulating the expression of HDAC1 and up-regulating the expression of MOR in the dorsal root ganglia.


Assuntos
Neoplasias Ósseas/complicações , Dor do Câncer/terapia , Eletroacupuntura , Gânglios Espinais/metabolismo , Histona Desacetilases/metabolismo , Receptores Opioides mu/metabolismo , Pontos de Acupuntura , Animais , Tolerância a Medicamentos , Morfina , Distribuição Aleatória , Ratos , Ratos Sprague-Dawley
8.
Huan Jing Ke Xue ; 40(9): 3982-3989, 2019 Sep 08.
Artigo em Zh | MEDLINE | ID: mdl-31854860

RESUMO

Nitrogen oxide (NOx) is an important precursor for many air pollution problems such as fine particulate matter and ground-level ozone. Because air pollution levels increase daily, it is important to control NOx emissions from industrial boiler flue gas. A series of different Co3O4 catalysts was prepared in this study by different methods. The effects of the preparation methods on selective catalytic reduction of NO by CO (CO-SCR) were investigated. The catalysts were characterized by BET, XRD, HR-TEM, and Raman. The results show that the Co3O4-S catalyst, prepared by solid grinding with cobalt sulfate as the precursor, had better CO-SCR activity and H2O resistance and that Co3O4-C, prepared by solid grinding with cobalt acetate as the precursor, showed excellent H2O resistance. The NO oxidation results showed that better NO oxidation activity over the catalysts is an important reason for the improved CO-SCR activity. The Raman results indicate that more Co2+ ions appeared on the surface of Co3O4-S, which benefited the formation of oxygen vacancies. The H2-TPR results showed better redox property of the Co3O4-S catalyst. The HR-TEM results shoes that the (111) and (220) crystal planes were exposed mainly on Co3O4-S and Co3O4-O and that more (220) crystal planes are conducive to improved reaction.

9.
Huan Jing Ke Xue ; 39(4): 1888-1900, 2018 Apr 08.
Artigo em Zh | MEDLINE | ID: mdl-29965016

RESUMO

To understand the distribution and risk of soil cadmium (Cd) in the Xijiang River drainage basin in Guangxi, a total of 2512 soil samples were collected nonferrous metal mining area, farmland (paddy soils and dryland soils) and the background soils, in the Xijiang River drainage basin in Guangxi.The results showed that Cd concentration was 0.514 mg·kg-1 in background soils significantly higher than previously resulted(0.148 mg·kg-1)and that in Guangxi background soil(0.267 mg·kg-1). The geometric average concentration of Cd in dryland soils, paddysoils and mining soils was 0.559, 0.787, 5.71 mg·kg-1, respectively, which were significantly higher than background soils. The Cd concentration exceeded the background soils and baseline by 51.2% and 35.2% in dryland soil, 66.7% and 39.6% in paddy soil, 77.8% and 71.4% in mining soil, high Cd concentration occurred in the Nandan County, Dahua County, Duan County, Huanjiang County and Yizhou City, as well as Liujiang County, These regions have developed severe and even extremely serious pollution, medium-high pollution accumulation and higher-extremely high potential ecological risks. The Cd-pollution in soils in agricultural and mining soils in upstream of Xijiang River in Guangxi is serious, due to mining activities and high Cd geological background. People in the mining area and surrounding areas who live on local crops, vegetables, may expose to the Cd-pollution. It is recommended to further develop a Cd risk assessment through a soil-plant-human system, taking appropriate measures to control risk.


Assuntos
Cádmio/análise , Monitoramento Ambiental , Poluentes do Solo/análise , Agricultura , China , Humanos , Mineração , Medição de Risco , Rios , Solo
10.
Huan Jing Ke Xue ; 39(6): 2919-2926, 2018 Jun 08.
Artigo em Zh | MEDLINE | ID: mdl-29965651

RESUMO

Nandan County is famous for its mining of nonferrous metals. In order to investigate the effects of mining activities on the soil and rice and to evaluate the health risk of the exposure of typical local inhabitants to heavy metals via consumption of rice, a consecutive 3-day household diet survey in four villages in Nandan was conducted. Liuzhai is an uncontaminated contrast area, and Chehe, Dachang, and Zhanglao are contaminated areas. The data for rice consumption rates were obtained. At the same time, 56 soil samples from rice fields and 90 rice samples were collected for the analysis of As, Sb, Cd, Pb, Cu, and Zn. In addition, the potential health risk of the exposure of local people to heavy metals via consumption of the rice was assessed using the pollution index method and the data from the intake of heavy metals. Results showed that the mean contents of As, Sb, Cd, Pb, Cu, and Zn were 58.1, 16.4, 1.22, 49.1, 52.1, and 271 mg·kg-1 in the soil samples from contaminated areas, with higher pollution risks than from the control area for soil heavy metal contents. The Nemero comprehensive contamination index (PN) was 3.14, a heavy pollution grade. Cd contents in rice in Liuzhai, Chehe, Dachang, and Zhanglao were 2.23 times, 4.40 times, 3.81 times, and 3.52 times higher than those of GB 2762-2017.The content in rice exceeds the standard in all four areas. The daily intake (DI) of Cd in the four areas was higher than the provisional tolerable daily intake (PTDI) established by FAO/WHO. This indicates that Cd and As are the major heavy metal elements posing health risks to the health of the inhabitants in the mining areas and that the inhabitants in the mining areas are facing severe risks of exposure to heavy metals.


Assuntos
Metais Pesados/análise , Mineração , Oryza/química , Poluentes do Solo/análise , Solo/química , China , Monitoramento Ambiental , Humanos , Medição de Risco
11.
Chin Med J (Engl) ; 131(6): 684-688, 2018 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-29521291

RESUMO

BACKGROUND: Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1-antitrypsin (Alpha-1-AT) expression affects the occurrence and progression of chronic obstructive pulmonary disease (COPD). We aimed to explore the associations of rs9944155AG, rs1051052AG, and rs1243166AG polymorphisms in the Alpha-1-AT gene with the risk of COPD in Uygur population in the Kashgar region. METHODS: From March 2013 to December 2015, a total of 225 Uygur COPD patients and 198 healthy people were recruited as cases and controls, respectively, in Kashgar region. DNA was extracted according to the protocol of the DNA genome kit, and Sequenom MassARRAY single-nucleotide polymorphism technology was used for genotype determination. Serum concentration of Alpha-1-AT was detected by enzyme-linked immunosorbent assay. A logistic regression model was used to estimate the associations of polymorphisms with COPD. RESULTS: The rs1243166-G allele was associated with a higher risk of COPD (odds ratio [OR] = 2.039, 95% confidence interval [CI]: 1.116-3.725, P = 0.019). In cases, Alpha-1-AT levels were the highest among participants carrying rs1243166 AG genotype, followed by AA and GG genotype (χ2 = 11.89, P = 0.003). Similarly, the rs1051052-G allele was associated with a higher risk of COPD (OR = 19.433, 95% CI: 8.783-43.00, P < 0.001). The highest Alpha-1-AT levels were observed in cases carrying rs1051052 AA genotype, followed by cases with AG and GG genotypes (χ2 = 122.45, P < 0.001). However, individuals with rs9944155-G allele exhibited a lower risk of COPD than those carrying the rs9944155-A allele (OR = 0.121, 95% CI: 0.070-0.209, P < 0.001). In both cases and controls, no significant difference in Alpha-1-AT levels was observed among various rs9944115 genotypes. CONCLUSIONS: rs1243166, rs9944155, and rs1051052 sites of Alpha-1-AT may be associated with the COPD morbidity in Uygur population. While rs1243166-G allele and rs1051052-G allele are associated with an increased risk of developing COPD, rs9944155-G allele is a protect locus in Uygur population. Alpha-1-AT levels in Uygur COPD patients were lower than those in healthy people and differed among patients with different rs1051052 AG and rs1243166 AG genotypes.


Assuntos
Doença Pulmonar Obstrutiva Crônica/genética , Idoso , Alelos , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo Único/genética , alfa 1-Antitripsina/genética
13.
Huan Jing Ke Xue ; 37(12): 4867-4873, 2016 Dec 08.
Artigo em Zh | MEDLINE | ID: mdl-29965330

RESUMO

Nandan county is usually called "land of nonferrous metals". In order to discuss the impact of mining activities on the health of inhabitants in Nandan county, 200 human hair samples were collected from 4 villages (Liuzhai is a uncontaminated contrast areas, Chehe, Dachang and Zhanglao are contaminated areas) of Nandan and analyzed for contents of As, Sb, Cd, Pb, Cu and Zn. The results showed that the average contents of As, Sb, Cd and Pb were 1.260, 2.161, 2.466 and 20.92 µg·g-1 in the human hair samples from contaminated areas. They were 4.0, 20, 2.1 and 1.9 times higher than those in the contrast areas, and the Sb contents in human hair of Chehe and Dachang were higher than the recommended normal range. The contents of human hair Zn showed a negative correlation with the age of people (P<0.05), and contents of human hair Cd and Pb showed a weak negative correlation with the age of people in contaminated areas (P<0.1). The independent-samples t-test showed that Cd contents in male hair were apparently higher than those in female hair (P<0.05), however, Cu and Zn contents in female hair were apparently higher than those in male hair (P<0.05), in the contaminated areas. There were positive correlations between As and Sb, Cd and Pb, as well as As and Cd (P<0.01), while other elements showed no significant correlation between pairs. It was therefore concluded that contamination from the mining activities has exposed a serious threat to human health in the mine contaminated areas in Nandan county.


Assuntos
Monitoramento Ambiental , Cabelo/química , Metais Pesados/análise , Mineração , Poluentes do Solo/análise , China , Feminino , Humanos , Masculino , Medição de Risco
14.
J Zhejiang Univ Sci B ; 15(5): 474-81, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24793765

RESUMO

Crigler-Najjar syndrome type I (CN-I) is the most severe type of hereditary unconjugated hyperbilirubinemia. It is caused by homozygous or compound heterozygous mutations of the UDP-glycuronosyltransferase gene (UGT1A1) on chromosome 2q37. Two patients clinically diagnosed with CN-I were examined in this paper. We sequenced five exons and their flanking sequences, specifically the promoter region of UGT1A1, of the two patients and their parents. Quantitative real-time polymerase chain reaction (qRT-PCR) was used to determine the UGT1A1 gene copy number of one patient. In patient A, two mutations, c.239_245delCTGTGCC (p.Pro80HisfsX6; had not been reported previously) and c.1156G>T (p.Val386Phe), were identified. In patient B, we found that this patient had lost heterozygosity of the UGT1A1 gene by inheriting a deletion of one allele, and had a novel mutation c.1253delT (p.Met418ArgfsX5) in the other allele. In summary, we detected three UGT1A1 mutations in two CN-I patients: c.239_245delCTGTGCC (p.Pro80HisfsX6), c.1253delT (p.Met418ArgfsX5), and c.1156G>T (p.Val386Phe). The former two mutations are pathogenic; however, the pathogenic mechanism of c.1156G>T (p.Val386Phe) is unknown.


Assuntos
Síndrome de Crigler-Najjar/diagnóstico , Síndrome de Crigler-Najjar/genética , Predisposição Genética para Doença/genética , Glucuronosiltransferase/genética , Perda de Heterozigosidade/genética , Polimorfismo de Nucleotídeo Único/genética , Evolução Fatal , Feminino , Marcadores Genéticos/genética , Humanos , Lactente , Doenças Raras/diagnóstico , Doenças Raras/genética
15.
Zhonghua Er Ke Za Zhi ; 50(8): 571-4, 2012 Aug.
Artigo em Zh | MEDLINE | ID: mdl-23158732

RESUMO

OBJECTIVE: Congenital esophageal stenosis owing to tracheobronchial remnants (TBR) is a rare condition. This study was conducted to understand the clinical features of TBR. METHOD: The data of the four cases with TBR admitted to our hospital and 76 patients identified from the literature were reviewed. The clinical manifestation, X-ray, endoscopy, biopsy and treatment were studied retrospectively. RESULT: Of the total of 80 cases, 45 were male, 33 were female, and for 2 cases the gender was unknown. Symptoms of dysphagia and regurgitation developed at the age of 1-day to 12-month. Definitive treatment was carried out at the age of 1-month to 16-year. Twenty-seven patients had associated anomalies with esophageal atresia being the most prevalent. X-ray esophagography showed segmental stenosis at the distal third of the esophagus in all patients except three. An abrupt narrow segment at the lower esophagus with marked proximal dilatation was found in 32 cases. Esophagography of 12 cases showed distal esophageal stenosis with tapered narrowing. Esophagography of 20 cases showed flask-shaped shadow of distal esophageal stenosis and one patient showed linear projection of barium at the level of stenosis. Endoscopy found almost complete obstruction of the lower esophageal lumen without signs of the esophagitis or reflux. Esophagoscopic dilatation of the stenosis was attempted in 24 cases, but was ineffective, and 3 patients suffered esophageal perforation. Seventy-nine patients underwent resection of the stenotic segment. Histologic examination of the resected specimen showed cartilage, mucus glands, resembling bronchal tissue. Post-operative complication included anastomotic stenosis, anastomotic leakage, hiatal hernia, and gastroesophageal reflux. CONCLUSION: TBR should be suspected in patients who present with a typical history of dysphagia after ingestion of solid food. Esophagography and esophagoscopy are the essential means for diagnosis. TBR should be different from achalasia and should be diagnosed by biopsy. Operation is the only choice of treatment.


Assuntos
Coristoma/complicações , Estenose Esofágica/congênito , Estenose Esofágica/cirurgia , Anastomose Cirúrgica , Sulfato de Bário , Biópsia , Pré-Escolar , Dilatação , Atresia Esofágica/complicações , Perfuração Esofágica/etiologia , Estenose Esofágica/diagnóstico , Estenose Esofágica/patologia , Esofagoscopia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Fístula Traqueoesofágica/etiologia
16.
Chin Med J (Engl) ; 125(12): 2132-6, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22884142

RESUMO

BACKGROUND: Mutations in fumarylacetoacetate hydrolase (FAH) gene can lead to tyrosinemia type 1 (HT1), a relatively rare autosomal recessive disorder. To date, no molecular genetic defects of HT1 in China have been described. We investigated a Chinese family with a HT1 child to identify mutations in FAH. METHODS: DNA sequencing was used for mutations screening in FAH gene. Real-time polymerase chain reaction (PCR) was performed to determine the FAH gene expression level. To confirm the presence of degradation by the nonsense-mediated mRNA decay pathway (NMD), the fragments containing R237X mutations were analyzed by primer introduced restriction analysis-polymerase chain reaction (PIRA-PCR) and cDNA sequencing. Finally, the effects of the mutations reported in this study were predicted by online softwares. RESULTS: A boy aged 3 years and 8 months was diagnosed clinically with HT1 based on his manifestations and biochemical abnormalities. Screening of FAH gene revealed two heterozygous mutations R237X and L375P transmitted from his mother and father respectively. In this pedigree, the amount of FAH mRNA relative to a healthy control was 0.44 for the patient, 0.77 for his mother and 1.07 for his father. Moreover, both PIRA-PCR and cDNA sequencing showed significant reduction of the FAH mRNA with R237X nonsense mutation. The missense mutation of L375P was not reported previously and prediction software showed that this mutation decreased the stability of protein structure and affected protein function. CONCLUSIONS: This is the first case of HT1 analyzed by molecular genetics in China. The R237X mutation in FAH down- regulates the FAH gene expression, and the L375P mutation perhaps interrupts the secondary structure of FAH protein.


Assuntos
Hidrolases/genética , Tirosinemias/genética , Pré-Escolar , China , Humanos , Masculino , Dados de Sequência Molecular , Mutação , Mutação de Sentido Incorreto/genética , Degradação do RNAm Mediada por Códon sem Sentido/genética , Reação em Cadeia da Polimerase em Tempo Real
18.
Sheng Wu Gong Cheng Xue Bao ; 23(5): 824-30, 2007 Sep.
Artigo em Zh | MEDLINE | ID: mdl-18051859

RESUMO

In order to produce relatively large amounts of recombinant human intestinal trefoil factor and assess its biological activity. The expression plasmid pPIC9-hITF containing AOX1 promotor and the sequences of secreting signal peptides was transformed into the yeast cells. Then through selection, positive transformants were cultivated in fermentation basal salts medium in a 5L fermenter to obtain large amount product with low cost. The secreted peptides were then purified by a combination of ionic exchange chromatography and molecular sieve. To verify the product, electrospray mass spectrometry analyses was used to determine the structure of rhITF and Western Blotting was performed to test the immunological activity. Furthermore, the biological activity of the peptide was examined by experiments from cell to tissue. The nucleotide sequence of rhITF was the same as expected. With a 5-L fermenter, 253mg of hITF was isolated at the purity of 96% from 3.5 L of yeast fermentation broth. The expression level for recombinant human ITF in this yeast system was 73.33mg/L. In our study, we provided a way to gain a production among milligram to gram of recombinant human ITF by the use of a yeast expression system. As human ITF are difficult to purify in any significant amount from tissue extraction, the way described may become a valuable tool in obtaining pure peptide for further studies of trefoil peptide function.


Assuntos
Peptídeos/genética , Pichia/metabolismo , Proteínas Recombinantes/genética , Proteínas Recombinantes/farmacologia , Movimento Celular/efeitos dos fármacos , Células Epiteliais/citologia , Células Epiteliais/efeitos dos fármacos , Fermentação , Humanos , Intestino Delgado/citologia , Peptídeos/metabolismo , Pichia/genética , Proteínas Recombinantes/biossíntese , Fator Trefoil-2
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