海南地区家族性强直性脊柱炎与HLA-B27基因遗传学研究

目的了解海南地区家族性强直性脊柱炎(AS)发病情况和遗传方式,探讨该病与HLA-B27表现型和基因型关系。方法采用淋巴细胞毒试验检测HLA-B27表现型,用PCR-SSR检测HLA-B27基因型,并用流式细胞仪作室间比对,检测海南地区20例临床诊断为强直性脊柱炎的患者及其家族成员共158人的HLA-B27表现型和基因型。结果AS患者一级亲属中B27阳性率为52.7%,患病率为21.6%,与正常人患AS的概率比值为14.7:1。结论AS患者一级亲属风险远远高于正常人群,海南地区家族性强直性脊柱炎的数据与其它地区没有明显地区差异性。     

HLA-B27等位基因和亚型与强直性脊柱炎关系研究进展

大量的研究证明,强直性脊柱炎(AS)是与人类白细胞抗原(HLA)相关性最强的疾病。AS的发病与HLA-B27阳性密切相关,并与B7、B13、B40等几个等位基因有一定关系。HLA-B位点有42个等位基因,其中HLA-B27具有高度多态性,含有22个以上的亚型,不同亚型的碱基序列间只有个别差异。B27亚型在AS患者中的分布因地区和种族上的差别而不同,在中国主要以B2704和B2705为主,但以B2705分布最广。这几年大量的人B27转基因鼠实验证明AS与B27的关联性。     

关于不同HLA-B27基因亚型强直性脊柱炎患者合并心血管疾病风险的探讨

目的 比较不同HLA-B27基因亚型强直性脊柱炎(ankylosing spondylitis, AS)患者合并心血管疾病风险，进而为临床的个体化精准预防和治疗提供依据。方法 选取204例HLA-B27基因阳性AS患者(其中HLA-B2704型99例，HLA-B2705型90例，HLA-B2702型4例，杂合子型11例),以及97例健康体检者，利用Kruskal-Wallis H差异性分析不同基因亚型和健康组间超敏C反应蛋白(hs-CRP)、总胆固醇(TC)、三酰甘油(TG)、脂蛋白a(Lp(a))、载脂蛋白A1(ApoA1)、载脂蛋白B(ApoB)、高密度脂蛋白(HDL-C)、低密度脂蛋白(LDL-C)、同型半胱氨酸(Hcy)差异有无统计学意义。同时将所有HLA-B27基因阳性患者作为总体阳性组与健康对照组进行统计学分析，比较以上血清学指标差异有无统计学意义。结果 与健康对照组相比，总体阳性组hs-CRP、Hcy、ApoB水平明显较高，ApoA1h和HDL-C水平明显较低，差异有统计学意义(P<0.05);与健康对照组相比，HLA-B2704阳性组hs-CRP、ApoB、Hcy...     

强直性脊柱炎患者HLA-B27位点等位基因相关抗原的表达

目的：探讨强直性脊柱炎（AS）患者HLA-B27位点等位基因相关抗原的表达。方法：采用补体依赖性微量淋巴细胞毒法检测418例脊柱关节炎（SpAS）患者和30例正常对照HLA-B27相关抗原。结果：418例SpAS患者73例被确诊为AS,Bw6、B27（47）、B27和B7/B27/B73/B81抗原阳性率分别为31%、28%、25%和22%。在AS中,B27阳性组与B27阴性组间有不同分布,两组B27（47）、B27、B7三种等位基因有统计学意义（P〈0.01）。在66例B27阳性组中,除B13与Bw6成负相关外,Bw4与B27（47）、B7与B27之间等均成明显的正相关。结论：在AS患者中,B13与Bw6、B60/61/47/48/81（13）,B7与B27,Bw4与B27（47）,Cw1与B42B45表达联锁失衡,B27并不是AS易感的唯一因素,其他基因位点可能起增强（如Cw1及Cw2）或抑制（如B13）AS发生的作用。     

强直性脊柱炎和HLA-B27相关性的研究现状(文献综述)

强直性脊柱炎(ankylosing spondylitis,AS)是一种多发于青壮年男性(男女比例约为31)并以中轴关节慢性炎症为主,原因不明的自身免疫性疾病.国内外研究表明,AS与HLAI类基因B等位基因B27高度相关.人群中HLA-B27基因及其亚型的研究和转基因动物模型的建立也有力地证实了HLA-B27分子在AS发病中的重要作用[1].HLA-B27检查成为AS诊断及鉴别诊断的辅助方法.本文从HLA-B27等位基因、HLA-B27与AS的关联以及HLA-B27的检测等方面作一综述,有助于了解HLA-B27在AS发病中的确切作用,并可辅助临床对AS的诊断和治疗.     

HLA-B27检测与强直性脊柱炎的临床应用价值

目的通过检测人类白细胞抗原B-27（HLA-27）的表达,探讨其早期诊断与鉴别诊断在强直性脊柱炎（AS）中的临床应用价值。方法应用流式细胞术对146例AS患者,224例腰背疼痛患者及30例健康体检者外周血HLA-B27抗原进行检测,同时用魏氏法作红细胞沉降率（ESR）测定。结果146例AS患者中HLA-B27阳性136,阳性率91.89%,ESR（44.44±21.89）mm/h,224例腰背疼痛患者中HLA-B27阳性22例,阳性率9.82%,ESR（38.05±28.60）mm/h,30例健康体检者HLA-B27阳性2例,阳性率6.67%,ESR（7.37±3.44）mm/h。结论HLA-B27与AS具有高度相关性。对于长期不明原因的腰背疼痛和ESR增高的患者,HLA-B27的检测有助于AS早期诊断和与其它关节性疾病的鉴别诊断。     

HLA-B27抗血清筛选

<正>HLA-B27是人类白细胞B位点上的一个抗原,它与强直性脊柱炎（anky losing spondy litis,AS）的发病密切相关。国内外许多研究表明AS患者中95％以上为HLA-B27阳性,而正常人群中仅4％～6％左右为阳性。HLA-B27抗原检测现已作为临床诊断强直性脊柱炎的重要标志之一。目前国内大多数实验室仍采用血清学方法来检测B27抗原,因而制备一套特异性好,效价高的HLA-B27抗血清是至关重要的。我们在三年时间内收集了 3 000份产后血,进行筛选。     

084 HLA-B27和强直性脊椎炎

HLA-B27与强直性脊椎炎呈强关联,但它在强直性脊椎炎中作用仍不详,对HLA-B27分子的结构特征、抗原肽与B27亚型以及CTL细胞对抗原肽-B27复合体表位识别进行深入的研究,有助于了解其在强直性脊椎炎发病中的确切作用,本文拟就有关方面的研究进展作一综述.     

HLA-B27等位基因的相关性研究

HLA-B27基因在随机人群中阳性率约为3%～7%,而在强直性脊柱炎(ankylosing spondylitis,AS)患者中则高达96%.由于AS与HLA-B27基因具有关联性,HLA-B27抗原或基因检测已经作为临床诊断AS的常规检测项目.     

湖南地区强直性脊柱炎患者中TNF-α-238位点的多态性研究

目的:通过分析湖南地区强直性脊柱炎汉族患者DNA中TNF-α-238位点的多态性,研究湖南地区汉族人群中TNF-α-238位点基因多态性与强直性脊柱炎发病的相关性.方法:应用聚合酶链反应-限制性片段长度多态性法( PCR-RFLP)对患者和正常人DNA中TNF-α-238位点进行基因分型检测,采用酶联免疫吸附法(ELISA)检测100例强直性脊柱炎患者和90例正常人血清中TNF-α的水平,HLA-B27分型采用流式细胞仪检测.用统计学方法分析两组中基因型、等位基因频率、TNF-α水平、HLA-B27阳性率及其组间差异.结果:100例患者中TNF-α-238位点G/G基因型95例(95%),G/A基因型5例(5%),90例正常人中TNF-α-238位点G/G基因型88例(97.8%),G/A基因型2例(2.2%).AS组的TNF-α-238位点G频率(97.5%)低于正常对照组(98.9%),A频率(2.5%)高于对照组(1.1%);两组均未发现A/A基因型;AS组患者血清中TNF-α的平均水平比正常人明显增高[(10.16±1.19) pg/ml vs.(5.64±1.18) pg/ml],且G/A基因型患者血清中TNF-α的平均水平比G/G基因型患者高[(13.49±1.27) pg/ml vs.(9.44±1.29 pg/ml)];HLA-B27阳性率在湖南地区AS组和正常对照组中的分布差异极其显著(χ~2=114.975,P=0.000).对 HLA-B27和TNF-α-238两位点的基因分析表明,与单独HLA-B27阳性比较,TNF-α-238位点基因型为G/G时比数比(OR值)明显增加.结论:湖南地区汉族人群中TNF-α-238位点多态性与强直性脊柱炎发病可能没有相关性,但基因型为G/G时AS的患病风险可能增高.     

Photoperiodicity and the function of the hypophysis and the adrenal cortex

Summary The ACTH content of the hypophysis of rats rises from a minimum in the morning to a maximum in the evening hours. These fluctuations are associated with the diurnal rhythm of light and darkness, and are abolished under conditions of continual light or darkness for 30 days. Rhythmic fluctuations of the ascorbic acid content of the adrenals are also found, with maximum values in the evening, and these are likewise abolished by maintenance under conditions of constant illumination.Presented by Active Member AMN SSSR V. V. Parin     

Anatomic considerations and the relationship between the piriformis muscle and the sciatic nerve

Stating background  The piriformis syndrome is one of the non-discogenics causes of sciatica. It results from the compression of the sciatic nerve (SN) by the piriformis muscle (PM) in the neutral and piriformis stretch test position. The evidence of the increase in pain in the test position requires a detailed anatomical study addressing the changes that occurred in the SN and PM anatomy during the test position. The aim of this study is to examine this relationship morphometrically. Materials and methods  A total of 20 right and left lower limbs of ten adult cadavers were examined. The SN and the PM were made visible. The location of the SN was evaluated with respect to the consistent bony landmarks, including the greater and the lesser trochanter of the femur, the ischial tuberosity, the ischial spine of the hip bone, the posterior inferior iliac spine of the hip bone and the posterior superior iliac spine of the hip bone. The study was done in both neutral and test positions (i.e., 30° adduction 60° flexion and approximately 10° medial rotation position of the hip joint). Results  The width of the greater sciatic notch was 63.09 ± 13.59 mm. The length of the lower edge of the PM was 95.49 ± 6.21 mm, and whereas the diameter of the SN where it emerged from the infrapiriforme was 17.00 ± 3.70 mm, the diameter decreased to 11.03 ± 2.52 mm at the level of the lesser trochanter of the femur. The SN intersected the PM most commonly in its medial second quarter anatomically. The vertical distance between the medial edge of the SN–PM intersection point and the ischial tuberosity was 85.62 ± 17.23 and 72.28 ± 7.56 mm (P < 0.05); the angle between the SN and the transverse plane was 66.36° ± 6.68° and 71.90 ± 8.48° (P < 0.05); and the vertical distance between the medial edge of the SN and the apex of the ischial spine of the hip bone was 17.33 ± 4.89 and 15.84 ± 4.63 mm (P > 0.05), before and after the test position, respectively. Conclusion  This study provides helpful information regarding the course and the location of the SN. The presented morphometric data also revealed that after stretch test position, the infrapiriforme foramen becomes narrower; the SN becomes closer to the ischial spine of the hip bone, and the angle between the SN and the transverse plane increases. This study confirmed that the SN is prone to be trapped in the test position, and diagnosis of this situation requires dynamic MR and MR neurography study.     

Organization and distribution of the upper and lower esophageal motoneurons in the medulla and the spinal cord of the rat

The upper cervical esophagus is exerted on swallowing and peristalsis by somatic and visceral motoneurons, whereas the lower esophagus is exerted on only peristalsis by visceral motoneurons. We examined the origin of the esophageal motoneurons and whether there were any differences between the distributions of the upper and the lower esophageal motoneurons in the medulla and the spinal cord using cholera toxin subunit b (CTb) as the retrograde tracer. Following injection of CTb into the cervical esophagus resulted in heavy labeling of the neurons in the nucleus ambiguus including the compact (AmC), semicompact (AmS) and loose (AmL) formations, and the medial column of lamina IX at the C1-C5 levels of the cervical spinal cord corresponding to the spinal accessory nucleus. A few labeled neurons were found in the inferior salivatory nucleus, the rostral division of the dorsal motor nucleus of the vagus (DMX), the accessory facial nucleus and the lateral column of lamina IX at the C2 and C3 levels. All these labeled neurons showed ChAT immunoreactivity. When CTb was injected into the cut end of the unilateral recurrent laryngeal nerve, many labeled neurons were found in the ipsilateral AmC, the AmL, and the bilateral medial column at the C1 and C2 levels. Following injection of CTb into the subdiaphragmatic esophagus resulted in heavy labeling of the neurons only in the AmC and the DMX. When CTb was injected into the sternomastoid muscle, many labeled neurons were found in the medullary reticular formation, the facial nucleus, the medial column at the C1-C3, C5 and C6 levels, and the lateral column at the C2, C3, C5 and C6 levels. Injections of a Fluoro-Gold into the cervical esophagus and a CTb into the sternomastoid muscle or the subdiaphragmatic esophagus in the same animal showed many double labeled neurons in the medial column of the accessory nucleus at the C1 and C2 levels, but no double labeled neurons in the AmC. These results indicated that the upper cervical esophagus is innervated by the visceral medullary vagal motoneurons as well as the somatic spinal accessory motoneurons. The lower esophagus is innervated only by the visceral medullary vagal motoneurons.     

空肠和回肠直动脉及器官表面动脉的观测

目的　通过对空、回肠直动脉分支类型的观察、测量不同类型直动脉管径、间距以及器官表面动脉吻合网面密度 ,探讨空、回肠血供形态的异同 ,为临床空、回肠疾病手术、器官移植、介入治疗提供形态学依据。方法　选取 15具成人及 2～ 6岁小儿 10具进行股动脉插管、乳胶灌注后解剖剥离直动脉 ,将空回肠均分 5段观测相关指标。结果　成人空肠 (1、2段 )及回肠 (3～ 5段 )直动脉起始处外管径 (mm)分别为 0 6 8± 0 18、0 72± 0 0 1、0 6 1± 0 0 2、0 5 3± 0 0 3和 0 5 1± 0 0 1,相邻分支间距 (mm)分别为 2 89± 1 72、2 79± 2 0 6、2 2 1± 1 6 4、2 17± 1 17及 2 85± 0 4 6 ;空、回肠直动脉长、短干型分支供血能力不同 ;空肠器官表面动脉吻合网面密度大于回肠。结论　直动脉分支类型、管径、间距及器官表面动脉吻合网面密度对空、回肠血供影响较大。