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1.
Front Oncol ; 14: 1391663, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38807765

RESUMO

Objective: To analyze the CT and MR features of Primary hepatic neuroendocrine neoplasms (PHNENs) in order to enhance the diagnostic accuracy of this disease. Methods: A retrospective analysis was conducted on patients diagnosed with hepatic neuroendocrine neoplasms, excluding other sites of origin through general examination and postoperative follow-up. The CT and MR signs were analyzed according to the 2018 version of Liver Imaging Reporting and Data System (LI-RADS), along with causes of misdiagnosis. Results: Twelve patients, including 6 males and 6 females, were enrolled in this study. There was no significant increase in liver tumor markers among all cases. Most masses were multiple (9/12), exhibiting low attenuation on pre-contrast CT scans, T1-hypointense signal, T2-hyperintense signal, and restricted diffusion. The majority of these masses (7/10) demonstrated similar rim arterial phase hyper-enhancement as well as peripheral "washout" during venous portal phase and delayed phase imaging. Three cases had incomplete capsules while one case had a complete capsule. Cyst/necrosis was observed in 7 out of all cases following administration of contrast agent, with 5 mainly distributed in the periphery. All masses lacked fat, calcification, vascular or bile duct tumor thrombus formation. Conclusion: The imaging findings associated with PHNENs possess certain specificity, often presenting as multiple masses within the liver accompanied by peripheral cyst/necrosis, similar rim arterial phase hyper-enhancement during venous portal phase and delayed phase imaging.

2.
Curr Med Imaging ; 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38676488

RESUMO

BACKGROUND: Some patients with cancer-administered anti-cancer drugs may develop renal lesions with low-level enhancement on follow-up abdominal computed tomography (CT). OBJECTIVE: To explore the clinical significance of renal lesions with low-level enhancement on CT after exposure to anti-cancer drugs. METHODS: Medical records of patients with cancer who developed renal lesions on CT after exposure to anti-cancer drugs were retrospectively reviewed. Renal lesions were scored according to the extent of involvement, CT attenuation values of lesions and normal parenchyma were measured on precontrast CT and three phases of contrast-enhanced CT, and changes in serum creatinine (SCr) from one week before exposure to drugs to one week before and after the appearance of renal lesions were recorded. RESULTS: This study included 54 patients (86 lesions). Lesions were slightly lower density on pre-contrast CT, and less enhancing than normal renal parenchyma, especially in the delayed phase. Lesions were wedge-shaped, and involved the renal pyramid and associated renal cortex, as well as, were single or multiple, and occurred in the unilateral or bilateral kidneys. There were patchy and cord-like shadows of increased density in adjacent perirenal adipose tissue. During follow-up, lesions disappeared in 15 patients and persisted in 39 patients without significant progression. There were significant differences in renal lesions and normal renal parenchyma CT attenuation values in each phase of contrast-enhanced CT. Change in SCr level was significantly positively correlated with lesion score. CONCLUSION: Renal lesions with low-level enhancement on CT suggest early drug-induced kidney injury. These findings will inform clinical decision-making.

3.
Int J Nurs Stud ; 135: 104343, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36029550

RESUMO

BACKGROUND: Reproductive concerns significantly affect the mental health of people, causing more serious psychological stress than disease. The reproductive concerns faced by women with schizophrenia are issues that have been neglected in the areas of psychiatry and women's health. OBJECTIVES: To explore the experience of reproductive concerns through the perspective of women with schizophrenia. DESIGN: Descriptive phenomenology interview study. SETTING: Data collection was carried out in a psychiatric hospital in China. PARTICIPANTS: 15 women with schizophrenia were recruited with a prospective sampling. All participants were 26-40 years old. METHODS: The interview recordings were transcribed by the research team, and transcripts were analyzed by two independent coders with Colaizzi's descriptive analysis framework. The process employed NVivo 12 software. RESULTS: Data analysis identified 9 subthemes falling into the 4 macrothemes: (a) Potential risks of reproduction; (b) The difficulties in raising children; (c) Significance of reproduction; (d) Multiparty cooperation is needed to relieve reproductive concerns. CONCLUSION: Women with schizophrenia have reproductive concerns under the conflict between the significance of reproduction and obstacles. Interventions to address the reproductive problems of women with schizophrenia should be developed in three areas: the women themselves, the women's spouses and the medical staff.


Assuntos
Esquizofrenia , Adulto , Criança , Feminino , Humanos , Saúde Mental , Estudos Prospectivos , Pesquisa Qualitativa , Reprodução , Saúde da Mulher
4.
Nat Prod Res ; 36(14): 3695-3700, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33538208

RESUMO

One new lactone derivative helicascolide F (1), one new pyrrolidine derivative talaromydine (2), along with six known compounds (3-8) were isolated from the fungus Talaromyces assiutensis JTY2. The structure of the new compounds 1 and 2 was determined by 1D and 2D NMR as well as by HRESIMS. The inhibitory activity of all compounds against six phytopathogenic fungi and three cancer cell lines was evaluated.


Assuntos
Talaromyces , Espectroscopia de Ressonância Magnética , Estrutura Molecular , Talaromyces/química
5.
Arch Psychiatr Nurs ; 35(3): 334-340, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33966802

RESUMO

This study aimed to explore the medication self-management experience of Chinese patients with schizophrenia who are prescribed antipsychotics. Grounded theory methodology was used to guide the research. Semistructured and in-depth interviews with 17 patients with schizophrenia were conducted and analysed. The six categories identified in this study portray an evolving journey for participants, from initially obeying the orders of psychiatrists or family members to actively engaging in medication management. Six main categories emerged from the data: (i) obeying the orders; (ii) perceiving the changes; (iii) appraising the changes; (iv) making some adjustments; (v) generating insight into medication-taking; and (vi) transcending themselves. The findings from the study indicate that the participants' experience antipsychotic management is complex and that the medication self-management behaviour trajectory is a continuous, dynamic, and progressive process. Health care professionals should identify the characteristics of medication self-management behaviour changes in patients with schizophrenia according to their actual situation and provide correct, timely and adequate guidance for patients.


Assuntos
Antipsicóticos , Psiquiatria , Esquizofrenia , Antipsicóticos/uso terapêutico , China , Família , Humanos , Esquizofrenia/tratamento farmacológico
6.
World J Clin Cases ; 8(4): 689-699, 2020 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-32149053

RESUMO

BACKGROUND: As a radical treatment, breast cancer surgery has a positive psychological impact on most patients. However, some patients do not have a clear understanding of the disease, which requires a more scientific and comprehensive consideration during clinical intervention and are based on cognition. The positive behavior management model is based on this kind of background-derived new interventions, which can better serve the clinical rehabilitation process of patients. The positive behavior management model based on cognitive architecture is a new type of intervention derived from this background, which can better serve the clinical rehabilitation process of patients. AIM: To analyze the influence of a positive behavior management model based on cognitive framework on the degree of hope and self-efficacy of patients with breast cancer surgery. METHODS: Eighty-four patients with breast cancer who underwent surgical treatment in our hospital from August 2016 to December 2018 were included in the study. The patients were divided into the experimental group (n = 42) and control group (n = 42) by random number table grouping. The control group received traditional nursing intervention, while the experimental group received a positive behavior management model based on cognitive framework based on the traditional intervention of the control group. General Self-efficacy Scale, Herth Hope Scale, Self-Rating Anxiety Scale, Self-Rating Depression Scale and Cancer Patient Specific Scale were used to evaluate the two groups before and 1 wk after intervention. RESULTS: After the intervention, self-efficacy and hope level of the experimental group were significantly higher than those of the control group (P < 0.05). The Self-Rating Anxiety Scale and Self-Rating Depression Scale scores in the experimental group were significantly lower than those in the control group (P < 0.05). There was no significant difference in the quality of life scores between the two groups before intervention (P > 0.05). The quality of life scores in all aspects in the experimental group after intervention were significantly higher than those in the control group (P < 0.05). CONCLUSION: The positive behavior management model based on cognitive framework applied to patients with breast cancer surgery improved hope for treatment and self-efficacy, reduced negative emotion, and improved quality of life.

7.
Psychol Health Med ; 24(1): 51-58, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29695175

RESUMO

Low well-being is common among Chinese pregnant women but few effective interventions currently exist to improve prenatal stress and negative emotions. Mindfulness-based stress reduction (MBSR) has been proved to be effective in reducing stress and rarely studies were focused on Chinese pregnant women. The aim of the current paper is to investigate the effects of 8-week MBSR on prenatal stress, anxiety and depression among Chinese pregnant women. A sample of 66 pregnant women randomly allocated into either the MBSR group (n=34) or the control group (n=32). Participants in the MBSR group received a group 8-week, 90-min each time intervention. The results found a significant interaction between time and condition for prenatal stress (F=45.51, p<0.001, η 2=0.427), anxiety (F=19.30, p<0.001, η 2=0.240), while depression showed no time-by-group interaction (F=0.29, p=0.589, η 2=0.005). As for the sub-scale of state anxiety, while there was only no time effect (F=3.68, p=0.060, η 2=0.057). The findings of this study preliminary indicated effects of the MBSR intervention on self-reported prenatal stress and anxiety in comparison to a treatment-as-usual control. Effect on depression was not observed may due to the low level of depression of participants. This study provides preliminary evidence that MBSR is suitable for Chinese pregnant women and be effective in decreasing prenatal stress, anxiety.


Assuntos
Ansiedade/terapia , Depressão/terapia , Atenção Plena/métodos , Complicações na Gravidez/terapia , Estresse Psicológico/terapia , Adulto , Feminino , Humanos , Gravidez , Resultado do Tratamento , Adulto Jovem
8.
Medicine (Baltimore) ; 95(37): e4853, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27631246

RESUMO

The objectives of the study were to introduce and investigate the reliability of a new flap for postauricular defects using the retroauricular artery perforator.Twenty auricles from 10 Asian human cadavers were dissected to examine the retroauricular perforator distribution and diameter. Fourteen patients with postauricular defects underwent reconstruction using the retroauricular artery perforator from 2013 to 2015. After locating the position of the perforator by ultrasound Doppler blood flow detection, a suitable flap was designed according to the defect's size, condition, and distance from the pedicle. The flap was meticulously elevated, rotated appropriately, and sutured to the defect. The donor site was then closed.Cadaver dissection showed that the posterior auricular artery produces at least 2 constant branches with an external diameter of 0.84 ±â€Š0.25 mm at the origin. These branches proceed toward the mastoid process at the height of the auriculocephalic angle to nourish the skin and fascia. A total of 14 clinical cases were available for 3 to 12 months postoperative follow-up. All flaps survived completely, maintaining good skin color, perfect outer contour, and complete patient satisfaction with the aesthetic results after initial treatment.Retroauricular artery perforator-based island flaps appear to be ideal for 1-stage reconstruction of postauricular skin defects.


Assuntos
Orelha Externa/cirurgia , Transplante de Pele , Retalhos Cirúrgicos , Idoso , Feminino , Humanos
9.
Medicine (Baltimore) ; 95(30): e3939, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27472671

RESUMO

The objective of this study is to systematically evaluate the efficacy of renal denervation (RD), adjusted drugs, or combined therapy for resistant hypertension (RH) through a systematic review and meta-analysis of controlled studies.Publications were comprehensively searched. Studies that investigated the effects of RD and/or adjusted drugs in lowering blood pressure (BP) were included. After quality assessment and data extraction, subgroup analyzes were first performed according to blinding method. Meta-regression and inverted funnel plots were also conducted.A total of 13 studies containing 1604 RH patients were included. Compared with control, the meta-analysis showed that RD significantly reduced office-based BP and ambulatory BP in 6 months in the unblinded studies, while no significant difference was found in the blinded studies. Meta-regression demonstrated the significant influence of blinding method on BP reduction, and further analysis revealed a significant BP reduction compared with baseline even in the control arm of blinded studies. RD had similar effects compared with adjusted drugs, and combined therapy seemed to further reduce the level of BP.The efficacy of RD was different between blinded and unblinded studies, and our data revealed a significant BP-lowering effect in the control arm of blinded studies, which was helpful to explain this finding. Furthermore, RD seemed to be equivalent to adjusted drugs, and also we suggested a potential advantage of combined therapy of RD and adjusted drugs compared with monotherapy for RH. However, more studies are warranted to better address the issue.


Assuntos
Anti-Hipertensivos/uso terapêutico , Hipertensão/terapia , Rim/inervação , Simpatectomia , Terapia Combinada , Resistência a Medicamentos , Humanos , Modelos Estatísticos
10.
Korean J Parasitol ; 52(5): 521-5, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25352701

RESUMO

Human infections with Lophomonas blattarum are rare. However, the majority of the infections occurred in China, 94.4% (136 cases) of all cases in the world. This infection is difficult to differentiate from other pulmonary infections with similar symptoms. Here we reported a case of L. blattarum infection confirmed by bronchoalveolar lavage fluid smear on the microscopic observations. The patient was a 21-year-old female college student. The previous case which occurred in Chongqing was 20 years ago. We briefly reviewed on this infection reported in the world during the recent 20 years. The epidemiological characteristics, possible diagnostic basis, and treatment of this disease is discussed in order to provide a better understanding of recognition, diagnosis, and treatment of L. blattarum infection.


Assuntos
Pneumopatias Parasitárias/parasitologia , Parabasalídeos/isolamento & purificação , Infecções por Protozoários/parasitologia , Feminino , Humanos , Pneumopatias Parasitárias/diagnóstico , Adulto Jovem
11.
Eur J Pediatr ; 173(4): 427-34, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24522325

RESUMO

UNLABELLED: Ventilator-associated pneumonia (VAP) is a common and serious problem among mechanically ventilated patients in intensive care units (ICU), especially for the newborn. However, limited literatures have been reviewed to synthesize the finding of previous papers to investigate the risk factors for VAP although it has been a serious complication of mechanical ventilation (MV) with a high morbidity and mortality in the newborn. We performed this meta-analysis to extend previous knowledge for developing VAP prevention strategies by identifying the potential risk factors related to VAP in the neonatal intensive care unit (NICU). The relevant literatures published up to July 2013 were searched in the databases of PubMed, Cochrane Central Register of Controlled Trials, Embase, and Web of Science. Three reviewers screened those literatures and extracted data according to the inclusion and exclusion criteria independently. A total of eight studies including 370 cases and 1,071 controls were identified. Ten risk factors were found to be related to neonatal VAP which were listed as follows in order by odds ratios (ORs): length of stay in NICU (OR 23.45), reintubation (OR 9.18), enteral feeding (OR 5.59), mechanical ventilation (OR 4.04), transfusion (OR 3.32), low birth weight (OR 3.16), premature infants (OR 2.66), parenteral nutrition (OR 2.30), bronchopulmonary dysplasia (OR 2.21), and tracheal intubation (OR 1.12). CONCLUSION: We identified ten variables as independent risk factors for the development of VAP: length of stay in NICU, reintubation, enteral feeding, mechanical ventilation, transfusion, low birth weight, premature infants, parenteral nutrition, bronchopulmonary dysplasia, and tracheal intubation. Due to several limitations in the present study, further large and well-designed studies are needed to confirm the conclusion.


Assuntos
Infecção Hospitalar/etiologia , Pneumonia Associada à Ventilação Mecânica/etiologia , Respiração Artificial/efeitos adversos , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Estudos Observacionais como Assunto , Pneumonia Associada à Ventilação Mecânica/prevenção & controle , Fatores de Risco
12.
Zhonghua Yu Fang Yi Xue Za Zhi ; 47(5): 439-43, 2013 May.
Artigo em Chinês | MEDLINE | ID: mdl-23958128

RESUMO

OBJECTIVE: To construct the mutants of biofilm related genes in Vibrio parahaemolyticus and confirm the mutants. METHODS: The homologous upstream and downstream flanking fragments of target gene were amplified by using PCR, and the fusion homologous fragment was amplified by using the two flanking fragments as template. Then the fusion homologous fragment was digested by restriction enzyme and cloned into suicide plasmid pDS132. The recombinant plasmid was transferred into Vibrio parahaemolyticus RIMD 2210633 through conjugation. The mutants were screened and identified by PCR and the phenotype of one mutant was analyzed in order to verify that the mutants were constructed successfully. RESULTS: Six recombinant plasmids carrying the fusion homologous fragments of genes vbfR, crp, hns, swrZ, swrT and cpsR respectively were constructed and identified by PCR. The amplification products of 1190, 1128, 1136, 953, 1242 and 1112 bp were obtained respectively. The six mutants (ΔvbfR, Δcrp, Δhns, ΔswrZ, ΔswrT and ΔcpsR) were constructed using recombinant plasmids. Verified by PCR, the size of amplification products of mutants (1190, 1128, 1136, 953, 1242 and 1112 bp respectively) was less (610, 739, 421, 542, 427 and 1367 bp respectively) than the corresponding positive control. Meanwhile, none of the products was amplified using the primers locating on the target gene. One mutant Δhns was selected to test the ability of biofilm formation. The result showed that the ability of biofilm formation of mutant Δhns was increased compared with the wild type. CONCLUSION: Six mutants of biofilm related genes in Vibrio parahaemolyticus were constructed and tested by molecular and phenotype experiment to confirm that the mutants were constructed successfully.


Assuntos
Biofilmes , Mutação , Vibrio parahaemolyticus/classificação , Vibrio parahaemolyticus/genética , Clonagem Molecular , Genes Bacterianos , Plasmídeos , Reação em Cadeia da Polimerase
13.
Chin Med J (Engl) ; 126(3): 526-31, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23422119

RESUMO

BACKGROUND: Patients with schizophrenia have prominent abnormality in information processing that can be observed by measures of prepulse inhibition (PPI) of acoustic startle reflex and PPI deficits have been considered as a candidate endophenotypic marker of schizophrenia. However, there has been little information on PPI and related measures in Chinese patients with schizophrenia. The research was to explore the deficits of acoustic startle reflex that might exist in Chinese patients with schizophrenia. METHODS: Startle response to acoustic stimuli, habituation, and PPI were examined in 31 Chinese patients with first-episode, medication-naïve schizophrenia and 30 age- and sex-matched healthy Chinese controls. At the same day of startle testing, psychopathological symptoms of the patients were assessed with the Positive and Negative Syndrome Scale (PANSS). RESULTS: Compared with healthy controls, patients exhibited the significant reduction in startle response and PPI deficits at 60 milliseconds (ms) intervals (PPI60, P < 0.05) but not at 30 or 120 ms intervals. Furthermore, there was a relatively strong correlation between PPI60 (P < 0.05) and scores of positive scale of PANSS in patients with schizophrenia. CONCLUSION: Our findings confirmed impaired PPI in Chinese patients with schizophrenia and suggested that a relationship between sensorimotor gating deficits and clinical symptoms of patients with schizophrenia might exist.


Assuntos
Esquizofrenia/fisiopatologia , Filtro Sensorial/fisiologia , Adulto , Povo Asiático , Feminino , Humanos , Masculino , Adulto Jovem
14.
Zhonghua Liu Xing Bing Xue Za Zhi ; 34(11): 1134-8, 2013 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-24517950

RESUMO

OBJECTIVE: To provide basic and direction for nosocomial infection prevention and control through evaluation the distribution of nosocomial infection pathogens and understand current situation of pathogens among general hospital in China. METHODS: Articles were searched and collected from CBM, CNKI,VIP database and Wanfang database published between creating database to March. 2013 about investigation of nosocomial infection. Those literatures were screened and extracted according to the inclusion and exclusion criteria by two reviewers independently. The analysis of pathogens distribution was performed by using comprehensive Meta analysis software and stratified by factor as year, hospital level and region of the study. The distribution rate of different pathogens were merged according to statistical tests for the heterogeneity test. RESULTS: The 345 trials were included. The results show 1)the pooled distribution rates of common pathogens in 1987-2000 were as follows:18.6% (95% CI:13.7%-24.9%), 18.1% (95% CI:15.4%-21.0%), 14.8% (95% CI: 12.2%-17.9%), 5.2% (95%CI:4.1%-6.6%) for Fungus, Staphylococcus, Pseudomonas, and Klebsiella respectively;the pooled rates of common pathogens in 2001-2012 were as follows:17.6% (95% CI: 16.4%-18.8%), 15.0% (95% CI:14.2%-15.8%), 13.9% (95% CI:13.1%-14.7%), 10.4% (95% CI: 9.9%-11.0%)for Fungus, Staphylococcus, Pseudomonas, and Klebsiella respectively. 2)The pooled distribution rates of pathogens in second and below grade hospital were 3.2% (95%CI:0.3%-29.9%), 4.7% (95% CI:3.4%-6.3%), 7.2% (95% CI:1.7%-26.1%)for Mycoplasma, Shigella and Alkaligenes respectively;the pooled distribution rates of pathogens in third grade hospital were 1.1% (95% CI: 0.1%-15.4%), 1.8% (95%CI:0.6%-5.1%), 4.3% (95%CI:2.3%-8.0%)for Mycoplasma, Shigella and Alkaligenes respectively. 3)The pooled rate of Mycoplasma for Yangtze River Economic Area was 14.3% (95%CI:2.0%-58.1%)and for Southwest Economic Area was 0.3% (95%CI:0.1%-1.1%). The pooled rate of Corynebacterium for Yangtze River Economic Area was 0.4% (95%CI:0.1%-1.4%)and for Southeast Economic Area was 9.5% (95% CI:2.4%-31.1%). The pooled rate of Haemophilus for Northern Economic Area was 0.5% (95%CI:0.2%-0.9%)and for Southeast Economic Area was 9.2% (95% CI:7.3%-11.6%). The pooled rate of Salmonella for Yangtze River Economic Area was 6.3% (95% CI:4.6%-8.6% ) and for Southeast Economic Area was 0.4% (95% CI:0.1%-3.0% ). CONCLUSION: The common nosocomial infection pathogens were Fungus, Staphylococcus, Pseudomonas and Escherichia among general hospitals in China. A remarkable note is that Klebsiella was increased significantly in recent years and becomes one of the most common pathogens. There were differences in the distribution rate of nosocomial infection pathogens among general hospitals between levels and regions in China.


Assuntos
Infecção Hospitalar/epidemiologia , Infecção Hospitalar/microbiologia , Hospitais Gerais , China/epidemiologia , Humanos
15.
Chinese Journal of Endemiology ; (6): 177-181, 2012.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-642828

RESUMO

ObjectiveTo explore the prevalence and spectrum of β-thalassemia mutations in Fujian province,and to provide a reference for prenatal diagnosis and genetic counseling in this population.Methods Two thousand three hundred and one blood samples were randomly selected from 9 different areas of Fujian province from May 2008 to December 2010.PCR and reverse dot blot hybridization (RDB) were adopted for detection of the 17 common types of mutation,and the frequency of each genotype of β-thalassemia mutations was calculated.The β-globin gene of unknown positive samples were analyzed directly with DNA sequencing.Results Three hundred and fifty-nine cases were detected with β-thalassemia mutations of the 2301 copy blood samples submitted,and the detection rate was 15.60% (359/2301).Of the mutated genes,12 different mutations were identified,namely IVS-2-654(C→T),CD41-42(-TCTT),CD17(A→T),-28(A→G),CD27-28(+C),CD26(G→A),CD71-72(+A),IVS-1-1(G→T),CD43(G→T),-29(A→G),initiation codon ATG→AGG and CD36(-C).Mutation frequencies were 46.54% (175/376),33.24% (125/376),9.31% (35/376),5.05% (19/376),2.13%(8/376),1.33%(5/376),0.80%(3/376),0.27%(1/376),0.27%(1/376),0.27%(1/376),0.53%(2/376),and 0.27%(1/376),respectively.The most common mutations were IVS-2-654 (C→T) and CD41-42 (-TCTT),which accounted for 79.78%(300/376) of total genetic mutations.In addition,a novel β-globin gene mutation CD36 (-C) allele was detected for the first time,the deletion of a nucleotide C at code 36 within exon 2 lead to a frameshift mutation that could result in a premature termination at code 60.Conclusions β-thalassemia mutations in Fujian province are complex with significant genetic heterogeneity.We present for the first time the detection of a new β-thalassemia mutation in the population:CD36(-C),which provides valuable information for genetic counseling and prenatal diagnosis in Fujian province.

16.
Chinese Journal of Pediatrics ; (12): 607-611, 2011.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-276989

RESUMO

<p><b>OBJECTIVE</b>To explore possible relationship between copy-number variations (CNVs) in 15q11-13, 16p11 and SHANK3 gene by using multiplex ligation-dependent probe amplification (MLPA) and the phenotypes in children with autism and to further explore the clinical application of MLPA to make an etiological diagnosis of Autism.</p><p><b>METHODS</b>The diagnosed of autism was made according to the criteria of the ICD-10 and DSM-IV, with typical cluster of symptoms comprise social disability, communication impairments and repetitious behaviors. MLPA KIT P343-C1 AUTISM-1 was used to detect and describe the incidence of CNVs in these three domains.</p><p><b>RESULTS</b>Among 109 cases collected from 102 autistic pedigrees, 2 individuals had SHANK3 microdeletion, accounting for approximately 2% (2/109) of cases, suggesting the proportion of SHANK3 microdeletion might contribute to typical autism. The phenotypic traits of patients with SHANK3 microdeletions showed homogenicity in severe core symptoms and mental retardation.</p><p><b>CONCLUSIONS</b>SHANK3 microdeletion is an important genetics component for autism, which may explain 2% typical autism cases. SHANK3 microdeletion might explain autistic core symptoms and mental retardation. MLPA is a sensitive and a high throughput technique to detect CNVs in specific DNA segments, which is beneficial for further investigation of etiology of autism.</p>


Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtorno Autístico , Genética , Proteínas de Transporte , Genética , Variações do Número de Cópias de DNA , Deleção de Genes , Proteínas do Tecido Nervoso , Fenótipo
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-264886

RESUMO

<p><b>OBJECTIVE</b>To study the effect of Supplemented Taoren Chengqi decoction (STCD) on the secretion of insulin and proliferation of NIT-1.</p><p><b>METHOD</b>The effect of STCD and the serum of rat after orally administrating of STCD on the secretion of insulin and proliferation of NIT-1 were studied. The proliferation of NIT-1 was measured by 3H-TdR incorporation and cell counting methods, while the secretion of insulin was measured from the cultured medium by the ultra sensitive rat insulin ELISIA kit.</p><p><b>RESULT</b>Both the STCD and the serum of rat after orally administrating of STCD significantly could increased the secretion of insulin and proliferation of NIT-1.</p><p><b>CONCLUSION</b>The treatment of the diabetic patients by STCD might be through with its improvement of secretion of insulin and proliferation on pancreatic beta-cell.</p>


Assuntos
Animais , Masculino , Camundongos , Ratos , Linhagem Celular , Proliferação de Células , Medicamentos de Ervas Chinesas , Farmacologia , Insulina , Secreções Corporais , Células Secretoras de Insulina , Biologia Celular , Metabolismo , Secreções Corporais , Camundongos Endogâmicos NOD , Camundongos Transgênicos
18.
Wei Sheng Wu Xue Bao ; 46(1): 18-22, 2006 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-16579458

RESUMO

Pseudomonas aeruginosa, a typical opportunistic pathogen, has a single polar flagella which provides swimming motility and virulence. Twelve of insertional mutants with Mu transposition complexes into genomic DNA of Pseudomonas aeruginosa were screened on the changes of swimming motility. After gene cloning and DNA sequencing of those mutants, ten of them were illustrated that defective mutations on swimming motility were caused by insertions of Mu transposon into 10 of different functional genes which may involved in biosynthesis of flagella and gene regulations, but another two mutants were resulted from the insertion of two new genes (PA2950, PA5022) with function unknown. Observation of these two mutants with an integrity flagellum under electron microscope showed that two new genes were not involved in construction of flagella, but probably in energy metabolism and gene regulation of swimming motility.


Assuntos
Fímbrias Bacterianas/genética , Genes Bacterianos , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/fisiologia , Southwestern Blotting , DNA Bacteriano/genética , Fímbrias Bacterianas/fisiologia , Fímbrias Bacterianas/ultraestrutura , Mutagênese Insercional , Mutagênese Sítio-Dirigida , Pseudomonas aeruginosa/ultraestrutura , Análise de Sequência de DNA
19.
Zhonghua Xin Xue Guan Bing Za Zhi ; 34(9): 803-7, 2006 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-17217688

RESUMO

OBJECTIVE: To investigate the relationship between paraoxonase (PON) polymorphisms and serum homocysteine thiolactone (HTL) and coronary heart diseases. METHOD: In this prospective study, serum complex of HTL levels using ELISA, and the lever of serum Hcy using high pressure liquid chromatography (HPLC), determined the PON1/T(-107)C and PON2/C311S genotypes using PCR-restriction fragment length polymorphisms 203 were measured in patients with angiographic documented coronary heart disease (CAD) and 117 controls. RESULTS: Serum levels of Hcy and the complex of HTL in CAD patients were significantly higher than that in controls (P < 0.05). No significant difference was found in frequencies of PON1/T(-107)C genotypes and alleles (P > 0.05) between CAD patient and controls. The PON2/C311S (SS) genotype was lower in CAD patients than that in controls (P < 0.05), while the frequency of allele was similar between the two groups (P > 0.05). The T allele of PON1/T(-107)C and S alleles of PON2/C311S polymorphism were associated with lower plasma Hcy and HTL complex [Hcy (11.83 +/- 4.76) micromol/L vs (15.32 +/- 10.32) micromol/L, P < 0.05; HTL complex (24.36 +/- 9.30) U/ml vs (32.05 +/- 10.44) U/ml, P < 0.05]. The genetype PON2 and allele C were higher in CAD patients with type 2 diabetes than that in CAD patients without type 2 diabetes and controls (P < 0.005). CONCLUSIONS: The elevation of serum Hcy and the complex of HTL were associated with increased risk of coronary heart disease. The allele PON1/(-107)T and PON2/311S might be protective for the development of atherosclerosis.


Assuntos
Arildialquilfosfatase/genética , Doença das Coronárias/genética , Homocisteína/análogos & derivados , Polimorfismo Genético , Adulto , Idoso , Doença das Coronárias/sangue , Doença das Coronárias/complicações , Cisteína/sangue , Diabetes Mellitus Tipo 2/complicações , Feminino , Homocisteína/sangue , Humanos , Masculino , Pessoa de Meia-Idade
20.
Zhonghua Xin Xue Guan Bing Za Zhi ; 33(7): 622-6, 2005 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-16080811

RESUMO

OBJECTIVE: To investigate serum level and gene polymorphisms of matrix metalloproteinase 9 (MMP-9), and platelet glycoprotein VI (GPVI) in patients with acute coronary syndrome (ACS). METHODS: In a prospective study of 179 patients with documented ACS and 164 controls, we measured baseline serum MMP-9 levels using ELISA and determined the MMP-9/C-1562T and MMP-9/G5564A genotypes using PCR-restriction fragment length polymorphism. Fib serum level was measured by Clauss assay. We also analyzed the Fib/Bbeta-148C/T and GPVI/T13254C polymorphisms. RESULTS: Serum levels of MMP-9 and Fib in ACS patients were significantly higher than in controls (P < 0.001), and serum level of Fib in the acute myocardial infarction group was higher than in patients with unstable angina (P < 0.05). No significant difference between ACS patients and controls was found in frequencies of MMP-9/C-1562T, MMP-9/G5564A, Fib/Bbeta-148C/T, and GPVI/T13254C genotypes and alleles (P > 0.05). The T allele of the Fib/Bbeta-148T polymorphism was associated with increased plasma Fib level (P < 0.05). There was a strong positive correlation between serum level of MMP-9 and Fib (r = 0.289, P < 0.01). CONCLUSION: Serum levels of MMP-9 and Fib were independent risk factors of ACS. There was an obvious relationship between the Bbeta-148C/T mutation and high Fib level. No significant difference between controls and ACS patients was found in the frequencies of MMP-9 C-1562T and G5564A, Fib Bbeta-148C/T and GPVI T13254C genotypes and alleles (P > 0.05).


Assuntos
Síndrome Coronariana Aguda/genética , Metaloproteinase 9 da Matriz/genética , Glicoproteínas da Membrana de Plaquetas/genética , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Metaloproteinase 9 da Matriz/sangue , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
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