Selected Topics in the Pathology of the Thyroid and Parathyroid Glands in Children and Adolescents

The goals of this chapter in keeping with the overall general themes of this special edition will be (1) to highlight aspects of development of the thyroid and parathyroid glands with particular focus on the role and contribution of the neural crest (or not) and how this may impact on the pathology that is seen, (2) to emphasize those lesions particularly more commonly arising in the pediatric population that actually generate specimens that the surgical pathologist would encounter, and (3) highlight more in depth specific lesions associated with heritable syndromes or specific gene mutations since the heritable syndromes tends to manifest in the pediatric age group. In this light, the other interesting areas of pediatric thyroid disease including medical thyroid diseases, congenital hypothyroidism, anatomic variants and aberrations of development that lead to structural anomalies will not be emphasized here.     

基于数据挖掘的低增生性骨髓增生异常综合征与再生障碍性贫血分类模型研究

目的 构建低增生性骨髓增生异常综合征（hypo-MDS）与再生障碍性贫血（AA）鉴别诊断的决策树、贝叶斯、卷积神经网络、改进的支持向量机四种模型并选择出最优模型。方法 收集2010—2019年华北理工大学附属医院的AA与hypo-MDS患者的病例资料,使用统计学方法筛选指标,将处理后的样本以4[DK]∶1随机分为训练集和测试集,构建决策树、贝叶斯、卷积神经网络、改进的支持向量机四种模型,采用五折交叉验证法多次重复验证,通过灵敏度、AUC等指标评价鉴别诊断效果。结果 hypo-MDS患者红细胞、血红蛋白含量等指标低于AA患者,成熟单核细胞比例等指标高于AA患者,年龄和职业分布也存在差异(P＜0.05）;最终选出21个特异性指标。四种模型的分类效果比较:灵敏度分别为82.56%、65.12%、87.21%、79.07%;AUC分别为0.81、0.68、0.82、0.83;准确率分别为75.32%、69.48%、77.27%、74.03%。对卷积神经网络的误判病例分析得出年龄、血成熟淋巴细胞等7个指标均存在差异（P＜0.05）。结论 在决策树、贝叶斯、卷积神经网络、改进的支持向量机四种诊断模型中,卷积神经网络具有最佳分类效果。     

Non-adenomatous colorectal polyposis syndromes

Gastrointestinal polyps are common lesions that usually present singly or in small numbers. Although the term ‘multiple colorectal polyposis’ was originally applied to patients carrying at least 100 large intestinal adenomas, it has subsequently become broadened to include patients carrying multiple polyps regardless of their nature. Most of the non-adenomatous polyposis syndromes are hereditary. They can be classified according to the dominant type of polyp, their distribution in the gastrointestinal tract and their potential for the development of gastrointestinal cancers. This review summarises their main clinical, genetic and histopathological features.     

Expression and function of c-kit receptor in bone marrow mononuclear cells of patients with myelodysplastic syndromes

目的　了解骨髓增生异常综合征 (MDS)骨髓单个核细胞c kit受体的表达与功能。方法　采用免疫荧光方法测定c kit受体蛋白 (CD117)的表达 ;逆转录 聚合酶链反应方法测定c kitmRNA的表达 ;细胞培养检测c kit受体的功能。结果　CD117表达率正常人为 3 0 4 %± 1 4 9% ,MDS患者为 8 58%± 5 2 8% ,两者差异有显著性 (P <0 0 5) ;RA患者为 5 12 %± 2 13% ) ,RAEB RAEB t患者为 10 0 1%± 5 0 7% ,两者差异有显著性 (P <0 0 5) ;MDS继发白血病患者为 32 4 3%± 18 16 %。MDS患者c kit基因mRNA表达与CD117表达相一致。正常骨髓单个核细胞体外半固体培养 ,在加入造血干细胞因子、白细胞介素 3、红细胞生成素 (SCF IL 3 Epo)后形成的粒 巨噬细胞集落 (CFU GM)较仅加入IL 3 Epo显著增多 (P <0 0 5) ,红系爆式集落 (BFU E)数量极显著增多 ,且BFU E体积显著增大(P <0 0 1)。MDS患者在上述相同条件下CFU GM数量无明显变化 (P >0 0 5) ,与正常对照比较 ,CFU GM和BFU E数量均显著减少 (P <0 0 5)。结论　MDS患者骨髓单个核细胞CD117表达明显高于正常对照 ,且与病情进展相关 ;c kitmRNA表达与CD117表达相一致 ;MDS患者骨髓单个核细胞体外培养时 ,SCF协同IL 3、Epo促进造血干 祖细胞增殖分化能力较正常对照明     

睡眠呼吸暂停综合征患者T细胞,NK细胞功能的研究

目的：检测睡眠呼吸暂停综合征（ＳＡＳ）患者外周血Ｔ淋巴细胞、ＮＫ细胞的变化,探讨ＳＡＳ对细胞免疫功能的影响。方法：应用ＡＰＡＡＰ桥联酶标法测定外周血淋巴细胞表型。结果：ＳＡＳ患者组ＣＤ３＾＋细胞与正常对照组差异无显著性（Ｐ〉０．０５）,ＣＤ４＾＋、ＣＤ４＾＋／ＣＤ８＾＋、ＣＤ１６＾＋、ＣＤ２５＾＋细胞ＳＡＳ组均低于正常对照组,而ＣＤ８＾＋细胞高于正常对照组（Ｐ〈０．０５,Ｐ〈０．０１）。结论：ＳＡ     

阻塞性睡眠呼吸暂停综合征患者快速眼动睡眠呼吸损伤的特点

目的 :根据阻塞性睡眠呼吸暂停综合征 (obstructivesleepapneasyndrom ,OSAS)患者多导睡眠仪(polysomnography ,PSG)监测信号 ,研究OSAS患者快速眼动睡眠损伤的特点。方法 :( 1)使用呼吸事件新分型法对 33例OSAS患者及正常打鼾者PSG监测信号进行分型 ,根据Ⅱ、Ⅲ型曲线的发生率将 33例OSAS患者分为轻度 ,中度和重度阻塞性呼吸暂停 3组 ;( 2 )比较 3组患者REM期睡眠时间长度 ;REM期呼吸紊乱特点。结果 :( 1) 3组患者REM期睡眠时间分别为 37.9± 11.3min ;12 .8± 3.1min ;7.3± 3.6min ,轻度组患者REM期睡眠时间较长 ,重度组患者REM期睡眠时间短 ,且易消失 ;( 2 )轻度组患者REM期RDI、RIT及SIT90 指数均较NREM期加重 ;重度组患者REM期RDI指数较NREM期显著减少 ,但RIT及SIT90 指数REM和NREM差异无显著性。结论 :( 1)根据新分型进行病情轻重分类能够反映患者REM期的损害程度 ,病情较重的患者REM期减少甚至消失 ;( 2 )轻度组患者REM期病情较NREM期加重 ,表现为RDI、RIT及SIT90 指数均显著增加 ;重度组患REM期较NREM期RDI减少 ,但呼吸及血氧损害程度无显著变化 ,显然是REM期呼吸紊乱的平均持续时间延长所致     

MDS患者P15基因高度甲基化的研究

目的 :研究P15基因通过甲基化失活在骨髓增生异常综合征 (MDS)发病中的作用。方法 :用甲基化敏感的限制性核酸内切酶消化 ,结合聚合酶链反应 (PCR)技术。结果 :2 0例MDS患者中发现有 9例 (45 % )存在P15基因高度甲基化 ,且多为高危MDS (RAEB、RAEB_t) (P <0 .0 5 )。结论 :P15基因可通过甲基化而失活 ,可能与部分MDS的发生及发展有关。     

阻塞性睡眠呼吸暂停综合征腭咽成形术前后多导睡眠图的变化

为评价悬雍垂腭咽成形成术 (UPPP)在治疗阻塞性睡眠呼吸暂停综合征 (OSAS)中的意义 ,我们通过多导睡眠图记录仪观察了 13例OSAS患者在接受UPPP前后多导睡眠图的变化。结果显示 :13例患者中 9例有效 ,有效率为 6 9%。提示并非所有接受UPPP的OSAS患者均有效 ,UPPP仅能作为OSAS治疗的方法     

朱丹溪善用风药治疗血证谈

复习朱丹溪有关医学文献 ,阐发其应用风药治疗血证的机制 ,主要有 :风药直接止血 ;风药升阴散火止血 ;风药散火解毒、凉血止血 ;风药炒黑止血 ;风药振脾益气止血 ;祛除致病因素 ;其它。     

Molecular genetics of familial parkinsonism

Parkinson's disease (PD) is a progressive, neurodegenerative disorder associated with tremor, rigidity, bradykinesia, and postural instability. There exists a familial form of PD that is indistinguishable from the sporadic form. In addition, there exists a class of syndromes classified as parkinsonism-plus syndromes (PPS), in which parkinsonism is an essential but not the only phenotypic characteristic. The etiology of PD remains unclear. Both environmental and genetic factors contribute to the disease pathogenesis. Recent progress in the molecular genetics of parkinsonism has demonstrated that six different chromosomal regions are associated with forms of familial parkinsonism. Mutations in four candidate genes have been identified and include both point mutations and deletions. Both gain-of-function and loss-of-function mutational mechanisms have been implicated. The molecular genetic characterization has led to a new classification of PD and PPS based on the type of genetic defect. Understanding the mechanisms by which these mutations lead to disease should provide further insights into the etiology of parkinsonism.