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find Keyword "缺陷" 96 results
  • Diagnostic accuracy of TRECs in newborn screening for severe combined immunodeficiency: a meta-analysis

    ObjectiveTo systematically review the accuracy of T-cell receptor excision circles (TRECs) in screening newborns for severe combined immunodeficiency (SCID). MethodsThe PubMed, EMbase, Cochrane Library, Web of Science, CBM, WanFang Data and CNKI databases were electronically searched to collect the diagnostic accuracy studies related to the objects from inception to October 26, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies using the QUADAS-2 scale. Meta-analysis was performed using Stata 15.0 and Meta-Disc 1.4 software. ResultsA total of 18 studies involving 6 243 718 neonates were included. The results of meta-analysis showed that the pooled sensitivity (SEN), specificity (SPE), positive likelihood ratio (PLR), negative likelihood ratio (NLR), and diagnosis odds ratio (DOR) were 0.97 (95%CI 0.92 to 0.99), 1.00 (95%CI 1.00 to 1.00), 1447.05 (95%CI 528.49 to 3962.11), 0.13 (95%CI 0.08 to 0.22) and 11698.21 (95%CI 2853.44 to 47958.98), respectively. The area under the summary receiver operating characteristic curve (SROC) was 0.97. ConclusionThe application of TRECs in screening neonatal SCID has high accuracy, which is helpful for early diagnosis of SCID. Due to the limited quality and quantity of the included studies, more high-quality studies are needed to verify the above conclusion.

    Release date:2023-06-20 01:48 Export PDF Favorites Scan
  • The association between prenatal exposure to dichlorodiphenyltrichloroethane(DDT) or polychlorinated biphenyls (PCBs) and the risk of congenital anomalies: a meta-analysis

    Objective To systematically review the association between prenatal exposure to dichlorodiphenyltrichloroethane (DDT) or polychlorinated biphenyls (PCBs) and the risk of congenital anomalies. Methods PubMed, EMbase, WanFang Data, VIP and CNKI databases were electronically searched to collect case-control studies on the relationship between prenatal exposure to DDT or PCBs and congenital anomalies from inception to February 2017. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies, then, meta-analysis was performed by using Stata 13.0 software. Results A total of 14 studies involving 2 238 infants with defect and 2 335 infants without defect were included. The results of meta-analysis showed that: the prenatal exposure to high level of DDT increased the incidence of cryptorchidism (OR=1.12, 95% CI 1.09 to 1.15, P<0.001). However, DDT exposure had no correlation to hypospadias and neural tube defects. The associations between prenatal exposure to PCBs and cryptorchidism, hypospadias, neural tube defects were not discovered. Conclusion Prenatal exposure to high levels of DDT may be a risk factor for cryptorchidism. Due to limited quality and quantity of the included studies, more high-quality studies are needed to verify above conclusion.

    Release date:2018-06-04 08:48 Export PDF Favorites Scan
  • Analysis on Clinical Features of AIDS Patients

    【摘要】 目的 观察人类免疫缺陷病毒(HIV)感染后对人体各个系统的影响,为其诊断和治疗提供经验。 方法 回顾性分析2005年1月—2010年6月于华西医院确诊为HIV感染13例患者的临床表现和相关实验室指标。 结果 13例HIV感染患者均合并其他感染,以结核病最为常见;除有T淋巴细胞异常外,多数患者可合并出现血液学异常,包括贫血、白细胞和血小板降低;生化异常,包括球蛋白升高、白蛋白降低;HIV感染患者可合并出现风湿病症状和免疫学异常。 结论 HIV感染患者临床表现复杂多样,可合并出现多种感染和风湿病症状,血液学及免疫学异常也比较常见。【Abstract】 Objective To observe the impact of human immunodeficiency virus (HIV) on each system of human body after its infection, in order to provide experiences for diagnosis and treatment of this disease. Methods The clinical manifestations and related laboratory results of 13 inpatients treated in West China Hospital of Sichuan University from January 2005 to June 2010 were reviewed retrospectively. Results The incidence of infection in these patients was 100% with tuberculosis as the most common infection. Apart from the abnormality of T lymphocytes, most patients had a change of hematology and biochemistry, including anemia, depression of leucocytes and platelets, hyperglobulinemia and hypoproteinemia; HIV-infected patients may also presented with rheumatic manifestations or abnormality in the immune system. Conclusion The clinical manifestations of patients with AIDS are complicated. Many kinds of infections and rheumatic manifestations may merge and the change in hematology and immunology is common.

    Release date:2016-09-08 09:26 Export PDF Favorites Scan
  • Association between human immunodeficiency virus-1 ribonucleic acid load in cerebrospinal fluid and central neurological diseases

    Objective To evaluate the relation of human immunodeficiency virus (HIV)-1 ribonucleic acid (RNA) loads in cerebrospinal fluid with central neurological diseases. Methods The inpatients with HIV-1 infection diagnosed by Public Health Clinical Center of Chengdu between January 1st, 2015 and March 1st, 2018 were retrospectively included. The included patients were divided into central neurological disease group and non-central neurological disease group, and high viral load group and low viral load group. The demographic data, CD4+ T lymphocyte count, routine detection of cerebrospinal fluid, HIV RNA load in cerebrospinal fluid and plasma of patients with and without central neurological diseases were observed and compared.Multiple logistic regression analysis was used to identify risk factors for central neurological diseases. Results A total of 367 patients were included. In the central neurological disease group, 210 cases (57.22%) were complicated with central neurological diseases, and cryptococcus infection was the most. Compared with the non-central neurological disease group, the increase rate of cerebrospinal fluid cell counts, cerebrospinal fluid cell counts, cerebrospinal fluid HIV RNA positivity and cerebrospinal fluid HIV RNA load were higher in the central neurological disease group (P<0.05). Logistic regression analysis showed that HIV RNA load in cerebrospinal fluid≥100 000 copies/mL and CD4+ T lymphocyte count<200 cells/mm3 were risk factors for central neurological diseases. Conclusion Cerebrospinal fluid HIV RNA load≥100 000 copies/mL is an independent risk factor for HIV/AIDS patients with central neurological diseases and clinical treatment should take this factor into consideration to reasonably optimize the selection of antiretroviral therapy.

    Release date:2022-05-24 03:47 Export PDF Favorites Scan
  • 表现为弥散加权成像高信号的进行性多灶性白质脑病所致的少见卒中模拟病三例

    Release date:2022-07-28 02:02 Export PDF Favorites Scan
  • A Meta-analyses Comparing Atomoxetine with Methylphenidate for Treatement of Children with Attention- Deficit/ Hyperactivity Disorder

    Objective To assess atomoxetine and methylphenidate therapy for attention- deficit/ hyperactivity disorder (ADHD) .Methods We electronically searched the Cochrane Library (Issue 2, 2008), PubMed (1970 to 2008), MEDLINE (1971 to 2008), EMbase (1971 to 2008), Medscape (1990 to 2008), CBM (1978 to 2008), and NRR (1950 to 2008). We also hand-searched some published and unpublished references. Two independent reviewers extracted data. Quality was assessed by the Cochrane Reviewer’s Handbook 4.0. Meta-analysis was conducted by The Cochrane Collaboration’s RevMan 4.2.8 software. Results We finally identified 3 randomized controlled trials that were relevant to the study. Treatment response (reducing ADHD-RS Inattention subscale score) was significantly greater for patients in the methylphenidate group than in the atomoxetine group with WMD= – 1.79 and 95%CI – 2.22 to 1.35 (Plt;0.000 01). There was no statistical difference in other outcome measures between two groups (Pgt;0.05). Conclusions The effectiveness and tolerance of methylphenidate and atomoxetine are similar in treatment of ADHD. Further large randomized, double blind, placebocontrolled trials with end-point outcome measures in long-term safety and efficacy are needed.

    Release date:2016-09-07 02:09 Export PDF Favorites Scan
  • Infection Rate of Acquired Immune Deficiency Syndrome Disease Combined with Penicillium Marneffei Laboratory Test Results and Analysis of Susceptibility

    目的 探究艾滋病(AIDS)合并马尔尼菲青霉病(PSM)的感染率,以及常规实验室检查结果和5种抗真菌药物对马尔尼菲青霉菌(PM)的体外抗菌活性。 方法 2006年1月-2009年11月间确诊AIDS患者326例,从其血液、骨髓培养出65株PM,检测该65例患者的血常规、肝功能和肾功能,并对20株酵母相PM进行体外药敏进行分析。 结果 AIDS合并PSM的感染率为19.94%;外周血常规:WBClt;4.0×109/L者48例,HBlt;100 g/L者51例,PLTlt;100×109/L者46例。肝功能检查:ALTgt;40 U/L者49,ASTgt;40 U/L者51例,GGTgt;60 U/L者44例,ALPgt;150 U/L者36例,ALBlt;35 g/L者53例,A/G倒置者50例。肾功能检查:BUNgt;7.2 mmol/L者9例,Crgt;150 μmol/L者4例。20株酵母相PM对5-氟胞嘧啶(5FC)、两性霉素B(AMB)、氟康唑(FCA)、伊曲康唑(ITR)、伏立康唑(VRC)的敏感率分别为75%、90%、80%、90%、90%。 结论 AIDS合并PSM感染率较高;患者感染后外周血WBC、HB、PLT通常低于正常人,肝功能多表现异常,肾功能的改变较少;对PM的治疗以AMB、ITR、VRC为首选。

    Release date:2016-09-08 09:47 Export PDF Favorites Scan
  • 脑脊液宏基因组二代测序辅助诊断艾滋病合并弓形虫脑炎一例

    Release date:2022-09-30 08:46 Export PDF Favorites Scan
  • Clinical Analysis of 85 Cases of AIDS with Opportunity Infections

    目的:进一步认识获得性免疫缺陷综合征(AIDS)并发机会感染的临床特点,提高临床诊断水平,减少误诊。方法:回顾性分析我院85例住院的AIDS患者的临床资料。包括临床表现、常见的机会感染、实验室检查异常情况及机会感染的确诊时间等情况。结果:本组资料中发生机会感染患者主要为青壮年男性,发病后误诊率为70%,大多经两家医院就诊后确诊。60%以上患者首诊于非感染科。临床表现主要有发热、咳嗽、腹泻、消瘦、皮疹、贫血等症状和体征。肺部感染35例(14%),肺结核12例(14%),乙型肝炎9例(10%),丙型肝炎10例(11%),梅毒 7例(8%),耶氏肺孢子菌肺炎(PCP)15例(17%),败血症1例 (1%)。结论:HIV机会感染呈多器官受累,临床表现复杂,不具特异性。临床应提高认识,减少误诊。

    Release date:2016-08-26 03:57 Export PDF Favorites Scan
  • 无眼内疾患的人类免疫缺陷病毒感染者黄斑厚度测量

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