Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance

Forty-one multiplex families, from published sources and new data from the National Cancer Institute, segregating for Hodgkin's disease and HLA, have been studied. A reanalysis of these data strongly suggests a recessive mode of inheritance for susceptibility to Hodgkin's disease. The HLA haplotype sharing data between affected relatives demonstrate that approximately 60% of cases in multiplex families are due to an HLA-linked susceptibility gene, the remaining 40% being due to other familial factors. The data clearly support the hypothesis of etiological heterogeneity for Hodgkin's disease, with both HLA-linked and HLA-unlinked factors being responsible. Finally, there is an increased concordance of histological types between affected relatives, but this concordance seems independent of HLA sharing.     

肝动脉栓塞治疗肝癌肝动脉-门静脉瘘所致的大量腹腔积液

目的:探讨肝动脉栓塞治疗肝癌肝动脉-门静脉瘘(APF)所致大量腹腔积液的临床应用价值。方法:并发高流量APF和大量腹腔积液的肝癌患者9例,以明胶海绵颗粒栓塞载瘘动脉,消除或减少APF,用碘化油尽量栓塞肝癌病灶。结果:APF消失7例,少量残留2例;门静脉血流方向全部由逆肝转为向肝;肝癌病灶内碘化油沉积良好6例;术后2周内腹腔积液完全消失5例,少量残余4例;2周后肝功复查,5例肝功能原有明显损害者全部明显改善;全部病例原有腹胀、腹痛、厌食、乏力症状不同程度缓解。结论:对肝癌并高流量APF所致腹腔积液,动脉栓塞治疗简单、安全、有效。     

顺铂腹腔注入治疗卵巢癌腹水的临床观察

晚期卵巢癌腹水的治疗相当困难,目前虽有一些治疗卵巢癌腹水的方法,但用顺铂腹腔内注入治疗卵巢癌腹水尚未见报道。我们在术前和术中用顺铂(各100mg)腹腔注入治疗20例晚期卵巢癌腹水患者。所有患者的全身状况在术前均得到明显改善,19例上皮性卵巢癌腹水患者一年内无腹水生长。该方法简单、安全,控制腹水生长效果明显,副作用少。     

不明原因散发性全面发育迟缓儿童遗传因素预测表的制订及临床应用

目的 通过分析散发性不明原因全面发育迟缓（GDD）患儿的临床特征,制订该类患儿的遗传因素风险预测表,以助于筛选需要进一步进行遗传学检测的患儿,缩短病因学诊断流程。方法 选取2019年6月—2022年6月在赣州市妇幼保健院儿童神经康复科就诊的散发性不明原因GDD患儿396例。依据基因测序结果将检测结果阳性的患儿归为阳性组（130例）,检测结果阴性的患儿归为阴性组（266例）。通过回顾性分析25项临床特征的组间差异,制订遗传因素风险预测表,并使用受试者工作特征（ROC）曲线评估该量表预测患儿基因诊断阳性率的效能。结果 阳性组与阴性组患儿父亲高龄生育、MRI提示结构畸形、癫痫、毛发异常、头围异常、颅骨外观异常、皮肤异常、眼外观异常或畸形、鼻梁外观异常或畸形、耳廓畸形或耳位异常、下颌畸形、牙齿异常、出生低张力、非智力因素合并症比较,差异均有统计学意义（P <0.05）,依据综合筛选,将19个条目归类至双亲因素、异常面容、器官畸形、非智力因素合并症、异常头颅MRI改变5个项目作为最终量表条目,制订遗传因素风险预测表。ROC曲线结果提示量表曲线下面积为0.707,最佳截断值为3分,敏感性为6...     

Proteases and antiproteases related to the coagulation system in plasma and ascites — An approach to differentiate between malignant and cirrhotic ascites

Summary The concentrations of several proteases and antiproteases known to be present in ascites were tested in plasma and ascitic fluid with regard to their ability to separate ascites according to malignant or nonmalignant disease. Seventeen patients with proven malignant ascites and 37 with ascites due to liver cirrhosis were included. Activities of plasminogen, ₂-antiplasmin, antithrombin-III, and factor V, and the concentration of ₁-protease inhibitor were significantly higher in the plasma of patients with malignant ascites than in cirrhotic patients. Fibronectin, plasminogen, ₂-macroglobulin, ₁-protease inhibitor, antithrombin-III, and albumin revealed higher concentrations or activities in malignant ascites than in cirrhotic ascites. Due to a wide variation of most parameters, only fibronectin, antithrombin III, and ₁-protease inhibitor in ascites had a sensitivity and specificity higher than 90% for malignant ascites. When the specific protein/albumin ratio was used, only the accuracy of fibronectin was increased reaching a sensitivity and specificity of 100%. The plasma/ascites gradients of the proteins assessed differed significantly, that of fibronectin being much higher (22±7) than that of all other proteins. In malignant ascites fibronectin concentration was only correlated with ₁-protease inhibitor concentration but not with the concentration or activity of all other proteins, while in cirrhotic ascites most proteins revealed a positive correlation.The determination of the fibronectin concentration or the fibronectin/albumin ratio in ascites can differentiate malignant and nonmalignant ascites. All other proteases and antiproteases assessed are of lesser value for this purpose, although most are significantly increased in ascites and plasma of patients with malignant disorders.Abbreviations ₂AP ₂-Antiplasmin - ₁PI ₁-Protease inhibitor - AT III Antithrombin III - FDP Fibrin(ogen) degradation products - FM Fibrin monomers - ₂MG ₂-Macroglobulin - PTT Partial thromboplastin time - RT Reptilase time     

215例急性和亚急性重型肝炎临床特征对比性分析

目的进一步了解急性重型和亚急性重型肝炎（简称急重和亚急重）患者的临床特征，以及它们之间的异同。方法收集和整理215例急重和亚急重住院患者的临床资料，使用X^2检验、t检验、回归分析等方法进行相关的统计学分析。结果①乙型肝炎病毒感染仍是急重和亚急重型肝炎的主要病因，均占30％以上。抗结核药物是药物性急重和亚急重肝炎的首要原因；②急重和亚急重患者肝性脑病发生率分别为78．13％和43．05％，差异有统计学意义（P〈0．001）；③急重患者的平均凝血酶原活动度低于20％，而亚急重患者平均凝血酶原活动度低于30％；④急重患者发生率前三位的并发症分别为肝性脑病、电解质紊乱及脑水肿；而亚急重则分别为腹水、电解质紊乱及肝性脑病；⑤急重和亚急重患者的病死率与病情最重时PT、WBC及中性粒细胞比例均呈正相关，而与PTA、TC均呈负相关；亚急重还与病情最重时TB、BLA及CRE呈正相关，与CHE、TG、PLT、ALB呈负相关。结论①急重和亚急重患者无论在好发年龄、肝性脑病发生率、肝性脑病出现时间，还是在凝血功能异常、预后与实验室指标等方面差异较大，属两个独立的疾病；②对于无肝性脑病的急重和亚急重患者，严重的凝血功能异常是一个重要的灵敏和特异性指标。     

CYTOLOGIC FEATURES OF ASCITES IN MALIGNANT FIBROUS HISTIOCYTOMA OF THE COLON

The cytologic features of ascitic fluid in a case of malignant fibrous histiocytoma (MFH) of the colon are described. At autopsy, two solid tumor masses were found around the ascending and transverse colon, accompanied by about 3,000 ml of ascites. Tumor cells had infiltrated diffusely into the outer layers of almost all of the gastrointestinal wall, simulating peritonitis carcinomatosa. Cytologic examination of the ascites revealed various kinds of tumor cells; short spindle-like cells, multinucleated giant cells, and round cells with an invaginated nuclear margin, forming small clusters. These cytologic findings were considered to be very useful in the diagnosis of MFH, especially in cytologic examinations of ascites. ACTA PATHOL JPN 38: 921 ∼ 928, 1988.     

Effekte einer Captopriltherapie auf die Natrium- und Wasserausscheidung bei Patienten mit Leberzirrhose und Aszites

Summary Ascites in patients with cirrhosis of the liver frequently is refractory to diuretic treatment. It was postulated that vasoconstriction of the renal cortex, mediated by activation of the renin-angiotensin-aldosterone-system (RAAS), may be one course of the disturbed sodium- and water-excretion in these patients. We therefore investigated in 14 cirrhotic patients with ascites under constant diuretic treatment the effects of low-dose captopril therapy on urinary sodium- and potassium-excretion, body weight, abdominal girth, serum-sodium,-potassium, creatinine-clearance, plasma-renin-activity (PRA), plasma-aldosterone (PA) and mean arterial pressure (MAP). After a control period of 4 days the patients received 2 × 6.25 mg/d captopril for 5 days and 4 × 6.25 mg/d for further 5 days. Treatment was followed by a second control period without captopril.PRA increased significantly after 2 days of captopril treatment. 2 × 6.25 mg/d captopril induced a significant increase in sodium excretion and a significant decrease of body weight. MAP decreased slightly but significantly without clinical signs of hypotension. 4 × 6.25 mg/d captopril resulted in a further reduction of body weight and a further enhancement of sodium excretion. Three days after withdrawal of captopril sodium output was significantly reduced again. Conclusion: In cirrhotic patients low-dose captopril seems to be efficient in the treatment of ascites resistant to diuretics without causing major side effects.

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Abkürzungen ACE Angiotensin-Converting-Enzym - A-II Angiotensin II - C_{H 2 O} Frei-Wasser-Clearance - C_Krea Kreatinin-Clearance - C_Osmo Osmolale Clearance - g Gramm - h Stunde - kg Kilogramm - l/d Liter pro Tag - MAP Mittlerer arterieller Blutdruck - mg Milligramm - mg/d Milligramm pro Tag - ml/min Milliliter pro Minute - mmHg Millimeter Quecksilbersäule (Torr) - mmol/d Millimol pro Tag - NaCl Natriumchlorid - ng/ml/h Nanogramm pro Milliliter und Stunde - PA Plasma-Aldosteron - pg/ml Picogramm pro Milliliter - PRA Plasma-Renin-Aktivität - RAAS Renin-Angiotensin-Aldosteron-System - SEM Standardfehler des Mittelwertes - S_Krea Kreatininkonzentration im Serum - S_Osm Serum-Osmolalität - U_Krea Kreatininkonzentration im Urin - U_Osm Urin-Osmolalität - V Urinminutenvolumen - vgl. vergleiche - µmol/l Micromol pro Liter     

自身腹水回输治疗肝硬化腹水机制的研究

目的 :探讨自身腹水回输治疗肝硬化腹水机制。方法 :将 40例常规治疗疗效不佳的肝硬化腹水病人随机分为两组 :实验组放腹水 2 0 0 0ml,其中 1 0 0 0ml静脉回输 ,再静脉注射速尿 6 0mg ;对照组放腹水 2 0 0 0ml,静脉点滴白蛋白 1 0g ,再静脉注射速尿 6 0mg。结果 :实验组术前、术后、术后第 4d血浆醛固酮 (ALD)、血浆心钠素 (ANF)、血浆内皮素 (ET)及术前、术后尿量、肾动脉血流量与对照组无明显差异 ;但是实验组血清白蛋白升高较稳定。结论 :自身腹水回输治疗肝硬化腹水的机制在于同时消除腹水和扩容两大治疗原则。由于有许多血管活性物质的参与 ,可能逆转了发生腹水的某些病理生理环节