小儿免疫和免疫缺陷病

小儿艾滋病58例，表现为慢性腹泻的儿童艾滋病7例，儿童获得性免疫缺陷综合征临床特点     

小儿免疫功能特点和免疫缺陷病

有血液特征的原发性免疫缺陷病；过敏性和免疫性疾病研究进展     

小儿免疫功能特点和免疫缺陷病

原发性免疫缺陷病新进展;原发性免疫缺陷病与自身免疫现象; 儿童原发性免疫缺陷病的临床特点;原发性免疫缺陷病分类;机体抗流感病毒免疫应答机制及研究进展;     

原发性闭经94例临床分析

原发性闭经（primaryamenorrhea，PA）并非罕见，但病因复杂，多与胚胎期性腺生殖道发育异常、下丘脑一脑垂体病变有关。随着医学诊断技术的日趋完善，目前可获得定性和定位诊断，不仅可指导及时正确地治疗，而且可提高患者的生活质量，有的患者尚可生育。表1各区病变例数分布1资料与方法1．1临床资料1985至1996年10月我们共收治PA患者94例，除询问病史、体检和妇科检查外，详细记录身高、体重、第二性征及内分泌测定、染色体检查、B超检查结果。部分病例作了CT、气腹和腹腔镜等检查，最后进行药物性诊断试验、治疗或手术治疗。94例19～3…     

原发性输卵管腺癌10例误诊分析

原发性输卵管腺癌临床上少见,因早期无明显症状或缺乏典型的体征,常延误诊断和治疗,预后较差。我院1988年8月至2001年2月共收治原发性输卵管腺癌10例,术前全部误诊,现报道如下。     

不典型川崎病42例临床分析

目的探讨不典型川崎病的早期临床表现特征、实验室检查结果及治疗方法。方法选择2013年5月至2015年7月湖南省儿童医院感染科收治的不典型川崎病42例和典型川崎病44例为研究对象。分析两组患儿的临床资料。结果典型川崎病患儿临床表现中确诊前发热时间、皮疹、口唇皲裂、手足硬肿的发生率均高于不典型川崎病患儿,差异有统计学意义(P0.05)。两组患儿的各项实验室检查项目中,典型川崎病患儿心肌酶学值升高的发生率显著高于不典型川崎病患儿,冠状动脉出现改变在病程中出现的时间显著低于不典型川崎病患儿,差异有统计学意义(P0.05)。两组患儿最终均完全康复,无明显后遗症,无死亡病例。结论不典型川崎病临床表现复杂多样,对川崎病进行诊断时,应结合临床表现与实验室指标及患儿影像学检查结果综合分析,尽可能的避免漏诊、误诊或延误诊断,尽早对患儿进行药物综合治疗。     

小儿恙虫病32例临床分析

目的加深对小儿恙虫病临床特点的认识以提高诊治水平。方法对昆明市儿童医院2007-01/2009-01收住的32例恙虫病的临床资料进行回顾性分析。结果全部患儿均有发热,均发现有焦痂或溃疡;外周血象白细胞〈4.0×109/L以下者2例,血红蛋白〈90g/L4例,血小板〈100×109/L者15例;肝功能损伤26例,心肌损伤15例,并发脑炎6例。结论恙虫病可累及肝、肾、心、血液、神经等多个器官、系统。发现焦痂是确诊恙虫病的最重要依据,儿童皮肤焦痂可分布于全身任何部位。     

小儿川崎病30例临床特点分析

目的总结小儿川崎病临床特点、治疗及预后。方法对30例川崎病患儿临床资料进行分析。结果 (1)川崎病患儿以男孩多见,典型川崎病23例,不完全型川崎病7例。不完全型川崎病冠状动脉损伤发生率高。发热时间≥10d、C反应蛋白、血沉、血小板、血浆白蛋白异常与冠状动脉损伤发生率密切相关。(2)30例均给予静脉用丙种球蛋白2.0g/(kg.d)治疗,其中3例无效,再次给予静脉用丙种球蛋白1.0g/(kg.d)后有效。(3)23例追踪随访2年,1例冠状动脉瘤已随访3年。随访期心脏彩超检查异常3例,运动负荷心电图异常7例,不完全型川崎病运动负荷心电图异常较典型病例发生率高,差异有统计学意义(P0.05)。结论川崎病以典型为主,不完全型川崎病冠状动脉损伤发生率高,肛周脱皮可作为早期诊断线索之一。发热时间超过10d就诊,C反应蛋白增高,血沉增快,血小板异常升高,血浆白蛋白降低,是冠状动脉损伤的高危因素。静脉用丙种球蛋白治疗有效。对川崎病随访很有必要,运动负荷心电图可作为随访期检查的重要方法。     

儿童原发性IgA肾病14例诊断及治疗分析

IgA肾病（IgAN）是儿童常见的原发性。肾小球疾病之一，早期认为本病预后良好，但近年研究发现在确诊后10年内约15％-25％的患儿不可逆地进展为终末期肾病。现将收治的14例儿童IgAN的诊断及治疗情况报道如下。     

原发性输卵管癌8例临床误诊分析

为提高原发性输卵管癌术前诊断水平,减少误诊,我们对近6年来3所医院8例原发性输卵管癌的临床资料进行复习,结合文献对误诊原因、诊断及鉴别诊断讨论如下。1 临床资料原发性输卵管癌8例,22～65岁,平均49.5岁。其中原发不孕1例,继发不孕6例,阴道流液7例,阴道流血4例,腹痛6例,盆腔肿物7例。术前诊断为卵巢肿瘤(癌)5例,诊断为子宫肿瘤2例,诊断为阑尾炎1例。2 结 果8例均行手术治疗,其中一侧附件切除1例,一侧附件切除加阑尾切除1例,次全子宫切除加单侧附件切除1例,全子宫切除加双侧附件切除2例,全子宫切除加双侧附件切除及大网…     

家族史与儿童青少年血脂紊乱关系的研究

探讨家族史与儿童血脂水平的关系。方法　2004年4月至10月“营养转型期儿童、成人慢性病综合性防治研究”课题组采用整群抽样方法对北京地区6～18岁儿童青少年进行横断面流行病学调查。有效调查对象19306名,其中男9665名,女9641名;按年龄及性别分为男性学龄期组、青春期组,女性学龄期组、青春期组。根据家族史背景分为无家族史、有一级家族史、有二级家族史。对其空腹末梢血总胆固醇（TC）、三酰甘油（甘油三酯TG）进行检测。结果　有一级家族史者,各年龄段男童组TC及TG水平均显著高于无家族史者（P < 0.05）,学龄期女性儿童组TC显著高于无家族史者[（4.07±0.41） mmo/L 、 （4.00±0.33） mmo/L,P < 0.05],青春期女性儿童组TG显著高于无家族史者[（1.26±0.75） mmo/L、（1.20±0.66） mmo/L,P < 0.05];有二级家族史者,各年龄阶段男性儿童组TC及TG均显著高于无家族史者（P < 0.05）,各年龄组女性儿童TC均显著高于无家族史者（P < 0.05）。将肥胖作为混杂因素行协方差分析后,有不同家族史背景的各年龄性别分组儿童TC水平差异仍有统计学意义（P < 0.05）。学龄期男性儿童组、青春期男性儿童组及学龄期女性儿童组有一级家族史者血脂紊乱的发生率均显著高于非一级家族史者（11.6 %、7.1%, 11.2 %、 8.4%, 10.8%、8.0%,P < 0.05）,有二级家族史青春期男性儿童组及青春期女性儿童组血脂紊乱的发生率显著高于无家族史者（10.3%、7.8%,14.7%、11.8%,P < 0.05）。结论　不同家族史背景儿童血脂水平差异有统计学意义,一级及二级家族史在儿童血脂紊乱筛查中具有一定意义。     

Hematopoietic stem cell transplantation in Taiwanese children with primary immunodeficiency.

BACKGROUND AND PURPOSE: Since 1968 it has been known that hematopoietic stem cell transplantation (HSCT) can ameliorate primary immunodeficiencies, but data on the long-term efficacy of this treatment in Taiwan are limited. This study analyzed the outcome of HSCT and the immune reconstruction in 10 children with primary immunodeficiencies in Taiwan. METHODS: We retrospectively analyzed the outcome of HSCT in 10 children with primary immunodeficiencies between 1986 and 2002. The primary immunodeficiencies in these children included severe combined immunodeficiency (SCID) in 4, Wiskott-Aldrich syndrome (WAS) in 4, Chediak-Higashi syndrome (CHS) in 1, and leukocyte adhesion deficiency (LAD) in 1. The conditioning protocols included busulfan and cyclophosphamide in 2 patients with SCID, 3 patients with WAS, 1 patient with LAD and 1 patient with CHS. Anti-thymocyte globulin was given to only 1 patient with WAS and no conditioning therapy was given in 2 SCID patients. Graft-versus-host disease (GVHD) prophylaxis with cyclosporine (CsA) and methotrexate was prescribed in 6 children, CsA alone in 1, and CsA and T-cell depletion in 1. RESULTS: Six patients were cured and 1 improved during a follow-up period from 3.5 years to 13 years after transplantation. Three patients died of severe sepsis. Three patients developed acute GVHD, which was grade 2 in 2 patients, and grade 3 in 1. Veno-occlusive disease developed in 1 patient and chronic GVHD with contracture of joints in 1. CONCLUSIONS: Our results support the benefits of allo-HSCT in children with primary immunodeficiencies. However, HSCT should be performed as soon as possible before severe infection develops.     

Role of receipt of antenatal care in subsequent contraceptive use at primary health care centres serving slum areas of Cairo,Egypt

Abstract

Objectives: Information on family planning and use of antenatal care services is vital for understanding the main influences on fertility and evaluating the success of national family planning programmes. This study aimed to explore contraceptive use and its relation to use of antenatal care services in Egypt.

Methods: A cross-sectional survey was conducted among women attending three primary health care centres serving different slum areas of Cairo.

Results: Most of women who used antenatal care services obtained contraception from the state sector. Although the number of antenatal care visits was not significantly associated with contraceptive use, it was a significant determining factor for the type of method used. Reasons given for non-use of contraception were related to reproductive health concerns or disapproval of contraceptive use.

Conclusion: Contraceptive use is widespread in Egypt, regardless of age and level of education. Antenatal care is no longer viewed with suspicion. Antenatal care visits are an opportunity for health care providers (HCPs) to encourage the use of contraception. Repeated antenatal care visits help to engender a relationship of trust between women and HCPs. Incorporation of family planning programmes into antenatal care programmes would be an opportunity to promote modern contraceptive use.     

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs)

Natural human immunity to the mycobacteria group, including Mycobacterium tuberculosis, Bacille Calmette-Guérin (BCG) or nontuberculous mycobacteria (NTM), and/or Salmonella species, relies on the functional IL-12/23-IFN-γ integrity of macrophages (monocyte/dendritic cell) connecting to T lymphocyte/NK cells. Patients with severe forms of primary immunodeficiency diseases (PIDs) have more profound immune defects involving this impaired circuit in patients with severe combined immunodeficiencies (SCID) including complete DiGeorge syndrome, X-linked hyper IgM syndrome (HIGM) (CD40L mutation), CD40 deficiency, immunodeficiency with or without anhidrotic ectodermal dysplasia (NEMO and IKBA mutations), chronic granulomatous disease (CGD) and hyper IgE recurrent infection syndromes (HIES). The patients with severe PIDs have broader diverse infections rather than mycobacterial infections. In contrast, patients with an isolated inborn error of the IL-12/23-IFN-γ pathway are exclusively prone to low-virulence mycobacterial infections and nontyphoid salmonella infections, known as Mendelian susceptibility to the mycobacterial disease (MSMD) phenotype. Restricted defective molecules in the circuit, including IFN-γR1, IFN-γR2, IL-12p40, IL-12R-β1, STAT-1, NEMO, IKBA and the recently discovered CYBB responsible for autophagocytic vacuole and proteolysis, and interferon regulatory factor 8 (IRF8) for dendritic cell immunodeficiency, have been identified in around 60% of patients with the MSMD phenotype. Among all of the patients with PIDs referred for investigation since 1985, we have identified four cases with the specific defect (IFNRG1 for three and IL12RB for one), presenting as both BCG-induced diseases and NTM infections, in addition to some patients with SCID, HIGM, CGD and HIES. Furthermore, manifestations in patients with autoantibodies to IFN-γ (autoAbs-IFN-γ), which is categorized as an anticytokine autoantibody syndrome, can resemble the relatively persistent MSMD phenotype lacking BCG-induced diseases.     

Harnessing the power of the pedigree

Primary care providers are in an ideal position to practice genomic-based medicine. Family history data can be used to assess reproductive risks or determine an individual's risk for developing specific diseases. The US Department of Health and Human Services has recently launched the US Surgeon General's Family History Initiative, a national public health campaign designed to encourage Americans to learn more about their family health histories. Furthermore, several national associations now recommend that primary care providers collect family history data to identify patients at risk for these diseases. Ideally, family history data should be ascertained, documented, and analyzed in a standardized manner. Graphic representation of a family history in the form of a pedigree may be preferable to a text format, but further research will clarify this issue. Family history tools are now being developed and studied to identify which methods are most beneficial in different clinical settings.     

肥胖儿童载脂蛋白E基因型与临床表现的相关性

目的探讨单纯性肥胖儿童载脂蛋白(apolipoprotein,Apo)E基因多态性的分布及其对血脂、脂蛋白、载脂蛋白的影响，及其与冠状动脉、心电图改变的关系。并对其早期预测和疾病预防提供理论依据。 方法选择2002年12月至2004年12月潍坊医学院附属医院儿科的6~14岁单纯性肥胖儿童89例和健康儿童76例。抽取外周静脉血，测定血清中甘油三酯(TG)，总胆固醇(TC)，高密度脂蛋白胆固醇(HDL C)，低密度脂蛋白胆固醇(LDL C)，载脂蛋白A1(Apo A1)，载脂蛋白B100(Apo B100)浓度。应用改良的聚合酶链式反应 限制性片段长度多态性(PCR RFLP)分析及聚丙烯酰胺凝胶电泳测定儿童Apo E基因型。 结果共检出4种Apo E基因型，E3/3、E4/3、E2/3、E4/2，以ε3为最常见。与健康儿童比较，肥胖儿童ε4等位基因频率增高，差异有显著性(P<005)。 结论单纯性肥胖儿童有Apo E基因多态性的变化，且明显影响小儿血浆脂类代谢，肥胖儿童Apo E4与冠心病有密切相关性。     

Investigation of infertility management in primary care with open access hysterosalpingography (HSG): a pilot study

Infertility affects one in seven couples in the United Kingdom. The National Institute for Clinical Excellence (NICE) issued guidance on the management of the infertile couple in February 2004, which included the statement “for the assessment of tubal damage, women not known to have co-morbidities (pelvic inflammatory disease, endometriosis or previous ectopic pregnancy) should be offered hysterosalpingography (HSG)”. We made HSG available to six general practices in Newcastle upon Tyne as an open access investigation. Our aim was to evaluate the uptake of open access HSG, speed of access to specialist services and the quality of the information recorded in the referral letter. Using hospital clinical records we tracked the outcome of all infertile couples from the six pilot practices over a nine-month period. Of the 39 referrals identified, 10 women were eligible for open access HSG, of which six HSGs were organized by GPs. Couples who had open access HSG reached a diagnosis and management plan four weeks earlier than those who were referred directly (mean difference 4.0 weeks, 95% confidence interval (CI) ?8.8 to 0.4 weeks). The information recorded in the referral letter was generally poor. However, all referrals made via the open access HSG service had the prerequisite tests done. Open access HSG allowed prompter access to specialist services with more complete information passed on in the referral letter. Open access HSG was used in 15% of all infertile couples and 60% of those who fitted the criteria for its use. Open access HSG together with semen analysis and endocrine blood tests may allow GPs to manage the initial stages of the infertile couple and make a diagnosis.     

脑性瘫痪儿童下颌运动障碍的临床研究

目的了解不同类型脑性瘫痪(简称脑瘫)儿童下颌运动障碍情况。方法 2014年6月至2015年6月在黑龙江省小儿脑性瘫痪防治疗育中心收治的不同类型脑瘫患儿43例为观察组,其中混合型及不随意运动型18例,痉挛型25例。同期选择佳木斯市某幼儿园就读正常儿童40例为对照组。采用《下颌运动功能测评调查表》观察、测评和记录儿童的下颌运动能力。结果观察组测评得分与对照组相比差异均有统计学意义(P0.05,0.01)。混合型及不随意型组与对照组比较,各项下颌运动测评分数差异均有统计学意义(P0.05,0.01)。痉挛型组与对照组比较,除下颌前伸运动、下颌左右连续运动测评分数差异无统计学意义(P0.05)外,其他各项下颌运动测评分数差异均有统计学意义(P0.01)。混合型及不随意型组与痉挛型组相比,除下颌前伸运动测评分数差异无统计学意义(P0.05)外,其他各项下颌运动测评分数差异均有统计学意义(P0.01),且痉挛型组得分均高于混合型及不随意型组。结论下颌运动障碍是脑瘫儿童普遍存在的一种构音器官运动障碍,不同类型的患儿其下颌运动障碍的形式及严重程度也有明显差异。     

Physician attitudes toward human immunodeficiency virus testing in pregnancy

OBJECTIVE: Our purpose was to determine physician attitudes regarding voluntary versus mandatory status of human immunodeficiency virus testing in pregnant women. STUDY DESIGN: A questionnaire was sent to a sampling of the membership in District IX of The American College of Obstetricians and Gynecologists. Members were queried about experience with pregnant patients who were human immunodeficiency virus positive. Practice characteristics were sampled, as were experiences with antiviral agents in pregnant women. RESULTS: Physician attitudes were influenced by their type of medical practice environment. Bioethical considerations were further influenced by data reflecting zidovudine use in pregnant women. Two thirds of respondents favored mandatory human immunodeficiency virus testing of all pregnant patients. More than 90% favored public health reporting of all human immunodeficiency virus - positive patients. One quarter of respondents were not current on California human immunodeficiency virus codes. A persistent percentage do not offer human immunodeficiency virus counseling or testing. CONCLUSION: Considerable physician support exists for mandating human immunodeficiency virus testing in all pregnant patients as the primary means of decreasing maternal-fetal human immunodeficiency virus transmission and the considerable resulting costs. (Am J Obstet Gynecol 1996;174:1750-6.)