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1.
本文报告沙瓦克病具有明显的家庭聚集性,其遗传倾向较高,原因与遗传因素有关。同时提示沙依瓦克病的家庭聚集性与周围环境,饮水、饮食结构、居住条件、近亲婚配等因素无关。  相似文献   

2.
本文报告用流行病学方法调查了沙依瓦克病的分布特征,结果表明沙依瓦克病的发病有逐年增加趋势,且与出生的胎次有关。在亲缘关系人群中,沙依瓦克病的一级亲属患病率最高为50.00%,二级亲属和三级亲属的患病率分别为27.78%,4.35%;四级亲属为20.59%。沙依瓦克病家系中无血缘关系者不发病;迁移异地与原地患病无差别。  相似文献   

3.
本文报道了新近发现的7例沙依瓦克病与248例大骨节病骨与关节损害特点的比较研究,通过分析两病的临床表现、X线征象与活体测量的结果认为:1.两病相似的临床表现有18个,占85.71%,完全不同的临床表现有3个,占14.29%;2.沙依瓦克病的关节损害是外周四肢关节与中枢脊椎同时受侵,大骨节病是由外周四肢关节向中枢侵犯;3.沙依瓦克病身高、坐高低于正常人,躯干腿长指数在正常人范围值内;大骨节病人中仅Ⅲ°患者的身高与躯干腿长指数明显偏低,而坐高降低不显著。作者等认为,两病虽然有类似的临床表现,但属性质不同的两类骨关节病。  相似文献   

4.
本文报告12例以致残性,对称性,多关节,多部位的新型畸形性关节病,经过实地追踪调查与其家庭遗传有关,并按病人发病所有地新疆维吾尔自治区疏附县百什克拉木乡的沙依瓦克村而命名,提出了沙依瓦克病的X线表现,并与其他疾病相鉴别。  相似文献   

5.
本文报告12例以致残性、对称性、多关节、多部位的新型畸形性关节病,经过实地追踪调查与其家族遗传有关,并按病人发病所在地新疆维吾尔自治区疏附县百什克拉木乡的沙依瓦克村而命名,提出了沙依瓦克病(Sayiwakdisease)的X线表现,并与其他疾病相鉴别。  相似文献   

6.
本文对新发现的沙依瓦克病(Sayinak disease)进行了家系追踪调查,共5代129人,分两个家系,发现患者21人,患病率为16.28%。连续3代均有患者,具有家族聚积现象。沙依瓦克病无垂直的传递,患者双亲表型正常,男女患者基本均等,符合常染色体隐性遗传。患者具有以幼年起病(3~5岁),隐匿进展,四肢脊柱等负重关节呈多形性,无痛性、致残性畸形,身材矮小,智力与头颅正常,无内脏损害等特点。  相似文献   

7.
本文首次报告在新疆喀什地区疏附县有一种具有百年历史,在近期才发现的以幼年起病,隐匿进展,四肢脊柱等负重关节呈多发性、对称性、无痛性和致残性畸形变,身材矮小且不妊育,但智力与头颅正常,无角膜及内脏损害,有遗传倾向等特点的新型畸形性骨关节病,在排除已知家族性和地方性类似疾病前提下,按其发生与发现的地区——沙依瓦克村而命名为沙依瓦克病(Sayiwak Disease)。报告了沙依瓦克病7例患者的临床表现、X线征象和部分实验室资料。有关流行病学、病原与发病学、治疗学等,尚在继续调研探讨之中。  相似文献   

8.
原发性高血压遗传模式研究   总被引:9,自引:0,他引:9  
目的为分析原发性高血压的遗传模式及其环境协变量的作用。方法我们对39个原发性高血压家系共296人用Penrose's法估计一般遗传模式,用Falconer法估算遗传度,并用SAGE软件拟合A型回归Logistic模型,进行复合分离分析。结果原发性高血压为多基因遗传,遗传度为70.00%±11.86%;接受隐性模型,主基因模型处于临界状态,虽在0.05界值上拒绝,但不能否认可能是主基因模型中存在隐性孟德尔遗传效应,拒绝单纯环境模型、非传递模型、显性模型、共显性模型,;协变量体重指数、血浆总胆固醇、尿酸均增加患病危险。结论认为原发性高血压为多因子遗传疾病,环境协变量与遗传因素交互作用  相似文献   

9.
家族性高血压遗传分析   总被引:6,自引:0,他引:6  
为研究家族性高血压遗传方式,采用家系分析和分离分析方法,对63个家族性高血压家系包括140个核心家系进行了分析。家系分析表明家族性高血压存在着明显的垂直传递现象;分离分析揭示A×U,A×A婚配型都接受显性遗传分离比假设;所得结果支持家族性高血压为常染色体显性遗传。提示根据不同婚配类型,遗传方式可能不同,因此高血压有遗传异质性。研究结果将为家族性高血压的预防、诊断和治疗提供参考依据。  相似文献   

10.
沙依瓦克病—新的遗传性骨软骨病12例综合报告张远炎,周建忠,谭德银,买买提·艾沙,张矢远,郭雄,郝永杰,许采明(中国人民解放军第12中心医院新疆疏勒县84420;西安医科大学地方性骨病研究所西安710061)1989年,我院首次收入1例诊断不明的全身...  相似文献   

11.
The immunoneuroendocrine role of melatonin   总被引:19,自引:0,他引:19  
Abstract: A tight, physiological link between the pineal gland and the immune system is emerging from a series of experimental studies. This link might reflect the evolutionary connection between self-recognition and reproduction. Pinealectomy or other experimental methods which inhibit melatonin synthesis and secretion induce a state of immunodepression which is counteracted by melatonin. In general, melatonin seems to have an immunoenhancing effect that is particularly apparent in immunodepressive states. The negative effect of acute stress or immunosuppressive pharmacological treatments on various immune parameters are counteracted by melatonin. It seems important to note that one of the main targets of melatonin is the thymus, i.e., the central organ of the immune system. The clinical use of melatonin as an immunotherapeutic agent seems promising in primary and secondary immunodeficiencies as well as in cancer immunotherapy. The immunoenhancing action of melatonin seems to be mediated by T-helper cell-derived opioid peptides as well as by lymphokines and, perhaps, by pituitary hormones. Melatonin-induced-immuno-opioids (MHO) and lymphokines imply the presence of specific binding sites or melatonin receptors on cells of the immune system. On the other hand, lymphokines such as -γ-interferon and interleukin-2 as well as thymic hormones can modulate the synthesis of melatonin in the pineal gland. The pineal gland might thus be viewed as the crux of a sophisticated immunoneuroendocrine network which functions as an unconscious, diffuse sensory organ.  相似文献   

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13.
Abstract: Herein we documented the response of pineal melatonin production to electrolytes known to be effective on pineal function in view of a possible circadian stage dependence. We studied the release of melatonin by perifused rat pineal glands at 2 different circadian stages corresponding to the middle of the light and dark periods, i.e., respectively, 7 and 19 HALO (Hours After Light Onset, L:D = 12:12). The initial efflux rates were, as expected, much higher in the perifusates of glands removed from rats sacrificed during the dark phase than of those removed during the light phase. After 3 hr of perifusion, melatonin release reached similar levels which were found constant up to the 8th hr of perifusion, whatever the circadian stage. Perifusion of the glands with physiological concentrations for the rat of calcium (5.2 mmol/1) and magnesium (1.34 mmol/1) resulted in a stimulatory effect on the pineal glands removed from rats sacrificed in the middle of the dark period (19 HALO), whereas no effects were observed on the pineal glands removed from rats sacrificed during the light (7 HALO). Lithium (0.28 and 0.55 mmol/1) was ineffective on melatonin release in pineal glands removed 7 and 19 HALO. Our results show differences in the initial efflux rates of melatonin and in the response of perifused pineal glands to calcium and magnesium according to the circadian stage.  相似文献   

14.
Abstract: The abundance of gap junctions between rat pineal astrocytes formed by connexin43 (Cx43) was studied during development. Levels and distribution of Cx43 were measured by immunoblotting and indirect immunofluorescence, respectively. The amount of Cx43 in cells located within the gland was low until about the 7th postnatal day and increased to adult values between the 14th and 21st days postpartum. Although astrocytes, recognized by their vimentin immunoreactivity, were scarce before birth, they were abundant by the 7th postnatal day suggesting that the low levels of Cx43 found at this age corresponded to a low expression of this protein. Localization of the immunoreactivity to Cx43 and vimentin showed a close correlation, indicating that mature or immature pineal astrocytes form gap junctions made of Cx43. Since Cx43 levels attained their adult values at about the time the innervation and the functional state of the gland reached maturity (2–3 weeks after birth), it is proposed that astrocyte gap junctions are involved in the function of the adult rat pineal gland.  相似文献   

15.
Duodenal diverticula are a relatively common condition. They are asymptomatic, unless they become complicated, with perforation being the rarest but most severe complication. Surgical treatment is the most frequently performed approach. We report the case of a patient with a perforated duodenal diverticulum, which was diagnosed early and treated conservatively with antibiotics and percutaneous drainage of secondary retroperitoneal abscesses. We suggest this method could be an acceptable option for the management of similar cases, provided that the patient is in good general condition and without septic signs.  相似文献   

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17.
Abstract: The use of antisera raised against bovine growth hormone (GH) and ovine prolactin (PRL) enabled the detection of related immunoreactive (ir) sequences of proteins in ovine pineal tissue. The isolation of PRL-like ir-material was accomplished using a 0.25 M ammonium sulphate (pH 5.5) extraction followed by ethanol precipitation, whereas the resulting 2.0 M ammonium sulphate (pH 7.0) precipitate contained a GH-like immunoreactivity. Gel chromatography of the GH-like immunoreactivity (Sephadex G-100) indicated the presence of several GH-like fragments ranging in the Mr range of 7,000 to 55,000. Analyses of the PRL-like ir-material found in pineal tissue on HPLC using a TSK 545-DEAE column led to the resolution into a single peak of immunoreactivity. A single peak of activity was also observed following chromatofocusing and hydrophobic interaction chromatography of the ir-peak from the TSK 545-DEAE column. The PRL-like ir-material inhibited the binding of [125I]ovine PRL-S14 to anti-ovine PRL antibodies without showing an affinity for binding to anti-rat PRL or anti-bovine GH antibodies. Scatchard analysis of the binding of pineal PRL-like ir-material and pituitary ovine PRL-S14 to liver membranes from day-20 pregnant rats revealed similar affinity constants (Ka of 4.7 ± 0.2 × 109 M-1). In addition, the replication of Nb 2 Node rat lymphoma cells was stimulated by pineal PRL-like ir-material, an effect known to be specific for lactogenic hormones. The pineal PRL-like immunoreactivity appeared on sodium dodecyl sulfate polyacrylamide gels as a single major band of Mr 24,000. The functional status of PRL-and GH-like ir-material in the ovine pineal remains to be determined, but evidence is presented that the overall protein synthesis rate of the rat pineal responded to circulating concentrations of PRL.  相似文献   

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PURPOSE: Individuals who are seropositive for the human immunodeficiency virus are at high risk for opportunistic infection and anorectal disorders. Little prospective information is available regarding anorectal pathogens in these patients. METHODS: One hundred sixty-three HIV-seropositive patients presented to the colorectal clinic between 1989 and 1992. Forty-seven (29 percent) patients were thought to have an infectious process and were prospectively studied using a standardized multiculture protocol. RESULTS: Mean age was 33 (range, 19–59) years. All were male; high-risk behavior accounted for 87 percent of HIV transmissions. Presenting complaints included anorectal pain (79 percent), pus per anum (28 percent), and blood per anum (26 percent). Examination revealed perianal tenderness (60 percent), condyloma (38 percent), perianal ulcers (38 percent), and anal fissures (34 percent). Sixty-six sets of cultures were performed; 28 patients had one set, 15 had two sets, and 4 had three sets. Thirty-two of these 47 patients (68 percent) had positive cultures including herpes (50 percent), cytomegalovirus (25 percent),Neisseria gonorrhoeae (16 percent), chlamydia (16 percent), acidfast bacilli (2 percent), and others (9 percent). Six of 32 patients with positive cultures had more than one organism cultured. Sixteen (50 percent) patients with positive cultures were treated medically, 8 (25 percent) were treated surgically and 8 (25 percent) were treated with both modalities. Sixty-one procedures were performed on 17 patients for condylomata. Eighteen patients had 20 procedures for abscesses, 50 percent of whom had positive cultures for other than common bowel flora; all improved. Fourteen patients underwent 33 procedures for perianal fistulas.Mycobacterium fortuitum was cultured from one patient who required 13 procedures for abscesses and fistulas. Forty-five (96 percent) patients were followed for an average of 12.5 months ±2.9 SEM (range, 1–94 months). Symptoms were improved or resolved in 22 of 32 (69 percent) patients with positive cultures and in 11 of 13 (84 percent) with negative cultures. CONCLUSIONS: Specific pathogens may often be identified in human immunodeficiency virus-seropositive patients with anorectal disorders if aggressively sought. Although patients without specific pathogens identified may be expected to improve with planned empiric treatment, positive identification allows more directed therapy.  相似文献   

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