以肝肿大为特征的肝淀粉样变性1例

病例：患者女,55岁,因＂上腹胀痛5个月,加重1个月＂于2010年8月12日收治入院.患者5个月前无明显诱因下出现持续性上腹胀痛伴纳差,1个月前症状加重,伴乏力、厌油、食欲减退.至我院门诊检查示总胆红素26.4μmol/L,直接胆红素10.4 μmol/L,GGT 425.54 U/L,ALP 624.7 U/L.肝炎病毒血清学、血清自身抗体、免疫球蛋白、补体均阴性.腹部彩超示肝体积明显肿大,脾脏轻度肿大.患者曾有血吸虫疫区生活史,否认传染病史、系统性疾病史、食物和药物过敏史.入院查体：体温36.9 ℃,脉搏93次/min,呼吸19次/min,血压147/78 mm Hg（1mm Hg=0.133 kPa）.     

Theoretic Opinion and Future Treatment of Amyloidosis

Abstract: Amyloidosis is still enigmatic. The etiology and mechanism of storage and organ impairment are still unknown. Not all amyloidogen molecules are definitely pathogenic; some precursors of tissue amyloid are structurally analogous to normal substances produced in the organism. This paper reviews the currently accepted categories, aspects of etiology and pathogenesis, and therapeutic trends of amyloidosis with a special emphasis on plasmapheresis.—     

五例心脏淀粉样变的临床表现及诊断分析

目的探讨心脏淀粉样变的临床特点及诊断.方法对5例心脏淀粉样变患者的临床特点、辅助检查及确诊方法进行分析.结果全部患者均为多系统病变伴心力衰竭,可伴限制型心肌病表现、体位性低血压、心律失常,超声心动图示心室壁增厚而心腔大小正常.结论对出现以上症状、体征及辅助检查结果者,拟诊为心脏淀粉性变性,确诊靠病理学检查.     

The Clinical Characteristics and Prognosis of Chinese Patients with Light-Chain Amyloidosis: A Retrospective Multicenter Analysis

To retrospectively identify the critical characteristics and prognostic factors of light-chain amyloidosis. Patients and Methods: Data were collected and compared from 91 patients who were diagnosed with light-chain amyloidosis at four hospitals between January 2010 and November 2018. We analyzed the clinical characteristics and performed an overall survival (OS) analysis. Results: Patients (median age, 60 years) were diagnosed with organ involvement of the kidney (91.2%), heart (56%), liver (14.3%), soft tissue (18.7%), or gastrointestinal tract (15.4%), and 68.1% of patients had more than two organs involved. Patients were most treated with bortezomib-based regimens (56%), and only one patient had autologous stem cell transplantation (auto-ASCT). The median OS was 36.33 months and was influenced by the ECOG score, renal involvement, cardiac involvement, hepatic involvement, and persistence of positive immunofixation. Patients who received bortezomib-based treatment had a trend of favorable OS compared to those who received non-bortezomib-based treatments, but the difference was not statistically significant. Although the overall number of organs involved was not related to OS, the number of organs involved in the heart, liver and kidney was related. Multivariate analysis indicated that cardiac involvement and negative hematologic response with persistence of positive immunofixation were independent prognostic factors for OS. Conclusion: Cardiac involvement and the hematologic response to treatment were independent prognostic factors for OS in light-chain amyloidosis patients.     

Cardiac Amyloidosis for the Primary Care Provider: A Practical Review to Promote Earlier Recognition of Disease

Cardiac amyloidosis is increasingly recognized as an underdiagnosed cause of heart failure. Diagnostic delays of up to 3 years from symptom onset may occur, and patients may be evaluated by more than 5 specialists prior to receiving the correct diagnosis. Newly available therapies improve clinical outcomes by preventing amyloid fibril deposition and are usually more effective in early stages of disease, making early diagnosis essential. Better awareness among primary care providers of the clinical presentation and modern treatment landscape is essential to improve timely diagnosis and early treatment of this disease. In this review, we provide practical guidance on the epidemiology, clinical manifestations, diagnostic evaluation, and treatment of transthyretin and light chain cardiac amyloidosis to promote earlier disease recognition among primary care providers.     

Myeloma-Associated Cardiac Amyloidosis: A Case Report

ABSTRACT A patient with Bence-Jones myeloma and amyloidosis was treated with cytotoxic drugs and plasmapheresis, resulting in rapid improvement of myeloma-associated symptoms and signs. However, amyloidosis-associated symptoms, especially hypotension, grew worse. Echocardiographic examination demonstrated hypertrophy and a hyperrefractile appearance of the myocardium, thought to be pathognomonic of amyloid heart disease. A permanent pacemaker was inserted for treatment of Adams-Stokes attacks caused by sick sinus syndrome and atrioventricular conduction disturbances. Postmortem examination of the heart demonstrated abundant amyloid deposits corresponding to the altered acoustic qualities of the myocardium. Echocardiographic examination is a valuable non-invasive method for demonstration of amyloid deposits in the heart in multiple myeloma.     

Factors Influencing Disease Self-Management Among Veterans with Diabetes and Poor Glycemic Control

BACKGROUND: Federal laws and regulations, including the Health Insurance Portability and Accountability Act (HIPAA) of 1996, intended primarily to protect individuals, have been described as significant barriers to the use of clinical registries and other population-based tools for health care research. Although these regulations allow for the waiver or alteration of usual consent procedures when the research meets certain specific criteria, waivers and alterations are rarely used in health care research. METHODS: The Vermont Diabetes Information System is a multistate randomized trial of a quality improvement intervention that uses a novel alteration of informed consent to help ensure that the study sample is representative of the target population. Patients are notified by mail that they are eligible for the study and that they may opt out of the study, if they desire, by calling a toll-free number. RESULTS: Seven thousand five hundred and fifty-eight patients were invited to participate. Two hundred and ten (2.8%) opted out. Three patients (0.04%) filed complaints, all of which were addressed satisfactorly. CONCLUSIONS: Health Insurance Portability and Accountability Act and other federal regulations raise challenges to the use of clinical registries in research, but modifications to the consent process, including passive consent methods, are useful tools to overcome these challenges. It is possible to recruit a broad and representative population under current law while maintaining appropriate protections for research subjects. This work was presented at the Society for General Internal Medicine National and New England Regional Meetings and Academy Health in 2005. This work was funded by the National Institute of Diabetes and Digestive and Kidney Diseases (R01 DK61167 and K24 DK068380).     

原发性系统性淀粉样变的消化系统临床表现和诊断

背景：原发性系统性淀粉样变（PSA）发病率低，目前国内尚无PSA的大宗病例总结。目的：总结分析PSA的消化系统临床表现，以提高其诊治水平。方法：回顾性分析北京协和医院35例PSA患者的临床资料。结果：PSA在同期淀粉样变中占47．9％。消化系统表现以肝肿大（45.7％）、腹胀（31.4％）、腹泻（17.1％）、吞咽困难（17.1％）、腹痛（17.1％）等为主，发生率居各系统表现之首（74.3％）。消化系统相关实验室检查除白蛋白降低阳性率较高（68．8％）外，其他项目的阳性率均不高。消化道造影可有张力低下、排空迟缓等表现；胃镜检查以黏膜充血、水肿、糜烂、黏膜结节状不平等表现为主；肠镜检查以结肠息肉、直肠乙状结肠炎症为主要表现。活检阳性率以受累组织器官为高，常选活检部位阳性率依次为齿龈（64.3％）、腹壁脂肪（55.6％）、直肠黏膜（40．0％）、骨髓（17．6％），胃十二指肠黏膜活检具有较高阳性率（60．0％）。结论：PSA较常累及消化系统。对于不明原因的肝肿大、腹胀、腹泻、腹痛等，结合血、尿单克隆免疫球蛋白升高，尤其是同时伴有心、肾损害时，应考虑淀粉样变的可能，并及时取活检行刚果红染色。     

Challenges in Glycemic Control in Perioperative and Critically Ill Patients: Challenges to Glycemic Measurement in the Perioperative and Critically Ill Patient: A Review

Accurate monitoring of glucose in the perioperative environment has become increasingly important over the last few years. Because of increased cost, turnaround time, and sample volume, the use of central laboratory devices for glucose measurement has been somewhat supplanted by point-of-care (POC) glucose devices. The trade-off in moving to these POC systems has been a reduction in accuracy, especially in the hypoglycemic range. Furthermore, many of these POC devices were originally developed, marketed, and received Food and Drug Administration regulatory clearance as home use devices for patients with diabetes. Without further review, many of these POC glucose measurement devices have found their way into the hospital environment and are used frequently for measurement during intense insulin therapy, where accurate measurements are critical. This review covers the technology behind glucose measurement and the evidence questioning the use of many POC devices for perioperative glucose management.     

Computerized Insulin Order Sets and Glycemic Control in Hospitalized Patients

Background

The purpose of this study was to evaluate the impact of computerized provider order entry subcutaneous insulin order sets on inpatient glycemic control and ordering behavior.

Comparison of two commonly used insulin injection techniques

In ten patients with insulin-dependent diabetes we compared postprandial blood glucose levels and plasma free insulin concentrations after the administration of insulin mixtures with two commonly used injection techniques. The morning dose of insulin was administered once using a 13 mm needle, inserted perpendicularly, and once with a 20 mm needle, inserted deep subcutaneously just above the muscle fascia at an angle dependent on the skinfold thickness. Plasma free insulin concentrations and postprandial blood glucose levels were virtually identical for either technique. We conclude, therefore, that the simpler perpendicular method is the technique of choice, saving the diabetics much unnecessary anxiety over a daily procedure.