太湖地区动脉粥样硬化病人的中医证素分布

目的根据动脉粥样硬化(atherosclerosis,AS)病人的四诊信息,观察太湖地区AS病人中医证候要素(证素)的分布规律。方法依据AS纳入病例标准,随机选取AS住院病人119例,作为实验组,由专职主任中医师进行中医"证素"评估。结果 119例AS病人中,单证素者79例,多证素兼夹者40例。单证素组中痰浊30例(38.0%),阴虚16例(20.3%),气虚14例(17.7%),血瘀4例(5.1%),肝火14例(17.7%),阳虚1例(1.3%)。单证素与多证素兼夹AS病人的累计证素组中,痰浊60例(34.7%),阴虚47例(27.2%),气虚28例(16.2%),血瘀23例(13.3%),肝火14例(8.1%),阳虚1例(0.6%)。单证素组79例中,女性47例,痰浊证素为21例(44.7%),肝火证素12例(25.5%);男性32例,痰浊证素9例(28.1%),阴虚证素10例(31.3%)。结论太湖地区AS病人常见的中医"证素"有痰浊、阴虚、气虚、肝火、血瘀,其分布规律呈现虚实分布的特点,实性证素和虚性证素大体上均衡分布,体现了AS虚实夹杂的病理属性。痰浊可能是该地区AS病人最主要的病理因素;血瘀证素则多以兼夹证素的形式出现;而虚性证素中以气虚证素、阴虚证素最多见,阳虚证素出现极少;肝火证素也占了一定比例,提示火热之邪也可以是导致AS的病理因素。AS证素在性别分布上,男性病人以痰浊证素、阴虚证素出现几率较高,女性病人以肝火证素、痰浊证素出现的几率较高,提示对于AS研究应根据不同性别特点进一步深入研究。     

Acquired hypophosphatemia osteomalacia associated with Fanconi’s syndrome in Sjögren’s syndrome

Sjögren’s syndrome is an autoimmune disorder involving exocrine glands that occurs alone or in association with various autoimmune and connective tissue diseases. The severity of Sjögren’s syndrome ranges from isolated sicca syndrome to severe complications such as vasculitis, lung and renal involvement. Overt or latent renal tubular acidosis caused by autoimmune tubulointerstitial nephritis, is a common extraglandular manifestation in Sjögren’s syndrome. Osteomalacia is a rare complication of renal tubular acidosis, and it was reported to be associated with distal renal tubular acidosis in Sjögren’s syndrome. We report a 60-year-old woman who presented with multiple bone deformity and general muscle weakness. Osteomalacia was secondary to Fanconi’s syndrome, and the Fanconi’s syndrome was a result of renal involvement in Sjögren’s syndrome. Fanconi’s syndrome is a rare kidney manifestation in Sjögren’s syndrome. It may be latent and may precede the subjective sicca symptoms. These findings suggest that evidence for Sjögren’s syndrome should be sought in adult patients with unexplained osteomalacia and renal tubular acidosis, even in the absence of subjective sicca syndrome. Conversely, in patients with Sjögren’s syndrome, early investigation and treatment of renal tubular dysfunction may prevent future complications, such as osteomalacia.     

Acute febrile neutrophilic dermatosis (Sweet's syndrome) associated with post-myocardial infarction syndrome (Dressler's syndrome)

A case of Sweet's syndrome (acute febrile neutrophilic dermatosis) occurred in a patient with post-myocardial infarction syndrome (Dressler's syndrome). Although Sweet's syndrome has been described in association with leukemias, other malignant disorders, and a variety of chronic inflammatory disorders, it has not been reported associated with Dressler's syndrome. Sweet's syndrome is reviewed with regard to its associations and to its pathogenesis.     

Metabolic aspects of the polycystic ovary syndrome

The author reviews the history of the term polycystic ovaries syndrome. He emphasizes the importance of insulin resistance in this disease. According to more recent criteria for the definition of the syndrome suffices the finding of hyperandrogenism, an irregular cycle (after elimination of other classical causes of this condition) and insulin resistance. The frequency of the disease varies in different populations up to 10%. It is significantly associated in particular with type 2 diabetes and obesity. The molecular biology of the syndrome is obscure. The metabolic syndrome as well as the polycystic ovaries syndrome have partly a genetic pathogenesis as well as an environmentally induced participation caused by stress. The polycystic ovaries syndrome is nowadays unequivocally an atherogenic syndrome and is a unit very close to Reaven's metabolic syndrome X or is part of this syndrome.     

Antiphospholipid antibodies in HELLP syndrome: clinical and biological study in 68 women

PURPOSE: Pregnancy complicated by the HELLP syndrome and antiphospholipid syndrome have rarely been reported. We report a study on anticardiolipin antibodies in HELLP syndrome. METHODS: Between March 1996 and September 1999, anticardiolipin antibodies were checked in all women with HELLP syndrome hospitalised in a maternity of the North of France. The women with positive anticardiolipin antibodies were seen month later in a internal medicine department. RESULTS: In the period 68 women with HELLP syndrome were checked for anticardiolipin antibodies. Apl were present in 9 patients (Incidence 42.8/1000 HELLP Year). They persisted after the accident only in 3 patients. Antiphospholipid syndrome was diagnosed in 2 patients, prevalence between the HELLP syndrome for the 42 month period was 0.03. CONCLUSIONS: HELLP syndrome may be a manifestation linked to the antiphospholipid syndrome and may revealed it.     

Prevalence of irritable bowel syndrome among undergraduates in Southeast China

BACKGROUND: There is a wide range in reported prevalence of irritable bowel syndrome worldwide. From the data appeared recently in medical literatures in China, it seems that the incidence of irritable bowel syndrome in young adults is not dissimilar to the one in the Western countries. AIMS: To explore the prevalence and epidemiological variations of irritable bowel syndrome in an undergraduate student population in Southeast China on the basis of the Rome II and Rome III criteria. METHODS: All the undergraduate student participants were administered self-report diagnostic measures for irritable bowel syndrome. RESULTS: The sex-adjusted prevalence rate of irritable bowel syndrome was 4.7% (Rome II) and 10.4% (Rome III), respectively. When we combined irritable bowel syndrome mixed and irritable bowel syndrome unsubtyped in the Rome III subgroups into one group considering the counterpart in the Rome II subgroups was alternative irritable bowel syndrome, the agreement between the two ways to subdivide these 54 patients who were identified with irritable bowel syndrome by both the two criteria was 81%, with a kappa value of 0.67. By the Rome III criteria, we found a female predominance which was especially attributed to the subtypes of irritable bowel syndrome with constipation and unsubtyped. CONCLUSIONS: Our study suggests that, in young adults in Southeast China, changing diagnostic criteria for irritable bowel syndrome from Rome II to Rome III may affect women more than men on not only the overall prevalence rate but also the sex-difference present or not, especially in irritable bowel syndrome with constipation and irritable bowel syndrome unsubtyped subgroups.     

Evans syndrome in adults - incidence,prevalence, and survival in a nationwide cohort

Patients with Evans syndrome have both immune thrombocytopenia and autoimmune hemolytic anemia, but little is known about the epidemiology of this rare syndrome. Evans syndrome can be primary or secondary. This nationwide retrospective study linked health registries to identify 242 patients with Evans syndrome in Denmark in 1977-2017. For comparison, we identified three age-matched and sex-matched cohorts of patients with only immune thrombocytopenia or only autoimmune hemolytic anemia, and a general population cohort. The Evans syndrome cohort had a mean age of 58.5 years at diagnosis, 51.2% were women, and 27.3% were classified as secondary Evans syndrome. The annual Evans syndrome incidence and prevalence rose significantly during the study period, to 1.8 per million person-years and 21.3 per million persons, respectively, in 2016. The median survival with Evans syndrome was 7.2 years (primary Evans syndrome: 10.9 years; secondary Evans syndrome: 1.7 years). Secondary Evans syndrome was associated with higher mortality rates than any of the other cohorts, with a 5-year survival of 38%. Among patients with Evans syndrome, the prevailing causes of death were bleeding, infections, and hematological cancer. In conclusion, we found that both primary and secondary Evans syndrome conferred a poor prognosis. Lethal complications probably derive primarily from manifestations of underlying autoimmune hemolytic anemia and immune thrombocytopenia. Our findings suggested that suspicion of Evans syndrome should prompt vigilant clinical follow-up. International collaborations are warranted to advance our knowledge of optimal management of this rare disease.     

Wiskott-Aldrich syndrome

PURPOSE OF REVIEW: Wiskott-Aldrich syndrome is caused by mutations of the Wiskott-Aldrich syndrome protein gene, which codes for a cytoplasmic protein with multiple functions. This review will focus on recent progress in understanding the molecular basis of Wiskott-Aldrich syndrome and its ramifications for the cure of this lethal disease. RECENT FINDINGS: The discovery of the causative gene has revealed a spectrum of clinical phenotypes demonstrating a strong genotype/phenotype correlation. The discovery of unique functional domains of Wiskott-Aldrich syndrome protein has been instrumental in defining mechanisms that control activation of Wiskott-Aldrich syndrome protein. Long-term follow up of patients undergoing hematopoietic stem cell transplantation has led to important modifications of the procedure. Studies of Wiskott-Aldrich syndrome protein-deficient cell lines and wasp-knockout mice have paved the way for possible gene therapy. SUMMARY: Wiskott-Aldrich syndrome protein gene mutations result in four clinical phenotypes: classic Wiskott-Aldrich syndrome and X-linked thrombocytopenia, intermittent thrombocytopenia and neutropenia. Wiskott-Aldrich syndrome protein is a signaling molecule and instrumental for cognate and innate immunity, cell motility and protection against autoimmune disease. The success of hematopoietic stem cell transplantation is related to the recipient's age, donor selection, the conditioning regimen and the extent of reconstitution. Since Wiskott-Aldrich syndrome protein is expressed exclusively in hematopoietic stem cells, and because Wiskott-Aldrich syndrome protein exerts a strong selective pressure, gene therapy is expected to cure the disease.     

血瘀证诊断标准修订研究构想

实施中医药标准化战略,加快构建中医病证诊断体系,是提高中医临床疗效和中医药科技竞争力的关键。血瘀证是临床常见的中医病证,血瘀证及活血化瘀研究是中医临床和基础研究最活跃、最深入、最见成效的领域之一,1986年中国中西医结合学会制定的血瘀证诊断标准(目前标准)在血瘀证研究中发挥了重要作用。但现标准距今已21年,在生命科学、高新技术飞速发展的今天,该标准已很难适应目前临床实际,并已成为血瘀证研究向纵深发展的瓶颈。现有的血瘀证诊断标准主要基于专家共识,缺少循证医学证据,体征难以量化表述,采用的检测技术相对陈旧、缺少规范,修订血瘀证标准已经成为临床和科研的重要迫切需求。血瘀证诊断标准的研究应按照中医临床思维规律,以循证医学理念,依照现代医学疾病诊断标准的修订,大多依据大规模临床试验结局,以及中医"以药测证""证效相应"的研究思路,选用古今大量临床各科有效案例,建立结构化数据库,运用数据挖掘技术,荟萃分析、聚类分析等统计方法,通过多元信息数字整合,对诊断血瘀证的症状、体征等进行量化分析,并根据各症状、体征等诊断血瘀证的准确度给予赋分,为血瘀证量化提供依据,并在进一步血瘀证研究专家咨询、评估的基础上,进行前瞻性研究,依据判别分析等统计分析方法筛选、权重修订标准中的实验室指标,同时分析血瘀证症状体征积分与实验指标间的关系,为血瘀证诊断提供更为客观量化的证据。最终制定出症状、体征、实验室指标综合的血瘀证标准量化的修订技术。在此基础上,再对修订的血瘀证诊断标准与现标准进行验证,比较其敏感度、准确度及相关指标的特异性,使修订后的血瘀证诊断标准进一步系统完善。血瘀证诊断标准的修订技术研究具有中医病证诊断标准修订的共性技术特点,本研究在建立中医病证诊断结构化数据库的基础上,通过人机融合方式,充分发挥信息工程、计算机智能数据挖掘技术,可探索出以充分临床疗效证据支撑的科学实用的研究技术和方法,为中医病证诊断标准的修订研究提供有益的可通用技术。此外,有关国家也已开展血瘀证标准的制定,我国制定血瘀证诊断标准最早、影响最大,目前尚具先导地位,为继续巩固我国在该领域的主导权,本研究成果将发挥难以估量的社会和经济效益。     

Dropped head syndrome: report of two cases

PURPOSE: The dropped head syndrome is characterized by an abnormal bending of the head to the body, mainly affecting old people. It corresponds to an alteration of the cervical extensor muscles, revealing in some cases a neuromuscular disease. In some cases, the etiology of this syndrome remains unknown. EXEGESIS: We report here two cases with dropped head syndrome. The first clinical case concerned a 78-year old man, presenting a dropped head syndrome revealing a myasthenia. The syndrome disappeared with specific therapy. The second clinical case was a dropped head syndrome developed in the context of severe depressive syndrome in a 71-year old woman. The etiological screening did not reveal any underlying disease. Counteracting the syndrome was successfully obtained with early physiotherapy. CONCLUSION: The dropped head syndrome can reveal a general disease such as myasthenia or amyotrophic lateral sclerosis. Therefore, investigation needs first to eliminate underlying diseases. If no etiology is found, the dropped head syndrome is considered of an unknown neuromuscular origin or a psychosomatic disease. In this latter case, physiotherapy may be beneficial.     

Animal models of Reye's syndrome

The etiology and pathogenesis of Reye's syndrome, an often-fatal childhood disorder, is not completely understood. Although Reye's syndrome is initiated with a prodromal viral illness, the viral infection alone is not sufficient to cause the syndrome. Interactions of virus with dietary or environmental agents such as pesticides, solvents, or drugs may be important in the development of Reye's syndrome. The roles of viruses, drugs, or other agents and their interactions in causing Reye's syndrome are difficult to study in patients because viral infection and ingestion of drugs (or exposure to environmental toxins) occur in the prodromal period. An animal model can therefore be useful in studying the etiology of Reye's syndrome because in such a model, the etiologic factors can be manipulated under controlled conditions. The proposed roles of various compounds in the etiology of Reye's syndrome are discussed in relation to the application of these compounds for studying Reye's syndrome in various animal models. Suggested animal models of Reye's syndrome are reviewed in terms of their relevance and eventual contribution toward a better understanding of the disorder in humans.     

High incidence of pacemaker syndrome in patients with sinus node dysfunction treated with ventricular-based pacing in the Mode Selection Trial (MOST)

OBJECTIVES: We evaluated the incidence, predictors, and treatment of pacemaker syndrome in patients with sinus node dysfunction treated with ventricular-based (VVIR) pacing in the Mode Selection Trial (MOST). BACKGROUND: Pacemaker syndrome, or intolerance to VVIR pacing, consists of cardiovascular signs and symptoms induced by VVIR pacing. METHODS: The definition of pacemaker syndrome required that a patient with single-chamber VVIR pacing develop either congestive signs and symptoms associated with retrograde conduction during VVIR pacing or a >or=20 mm Hg reduction of systolic blood pressure during VVIR pacing, associated with reproducible symptoms of weakness, lightheadedness, or syncope. RESULTS: Of 996 patients randomized to VVIR pacing, 182 (18.3%) met criteria for pacemaker syndrome in follow-up. Pacemaker syndrome occurred early in most patients (13.8% at 6 months, 16.0% at 1 year, increasing to 19.7% at 4 years). Baseline univariate predictors of pacemaker syndrome included a lower sinus rate and higher programmed pacemaker rate. Previous heart failure, ejection fraction, and drop in systolic blood pressure with VVIR pacing at implantation did not predict the development of pacemaker syndrome. Post-implantation predictors of pacemaker syndrome were a higher percentage of paced beats, higher programmed low rate, and slower underlying spontaneous sinus rate. Quality of life decreased at the time of diagnosis of pacemaker syndrome and improved with reprogramming to atrial-based pacing. CONCLUSIONS: Severe pacemaker syndrome developed in nearly 20% of VVIR-paced patients and improved with reprogramming to the dual-chamber pacing mode. Because prediction of pacemaker syndrome is difficult, the only way to prevent pacemaker syndrome is to implant atrial-based pacemakers in all patients.     

血管重建术后冠心病相关证型辨证标准的研究

目的通过专家问卷调查,总结血管重建术后冠心病患者中医证候分布规律,建立辨证标准,分析其实用性和可行性。方法根据以往研究结果,制订专家咨询问卷,对全国17个省市45家医院的105位相关专家进行问卷调查,建立Epidata3.1数据库,采用SPSS13.0对数据进行统计分析,总结血管重建术后冠心病患者的常见证型,并建立辨证标准,分析其实用性和可行性。结果本次调查共发放专家问卷105份,回收105份,回收率为100%,其中103份问卷有效,有效率98.10%。根据证型常见度,将累积百分率≥80%且变异系数≤0.45者作为血管重建术后的主要证型(血瘀证、气虚证、痰浊证);将累积百分率≥80%且变异系数≤0.45者的症状作为支持该证型诊断的要素;以百分比反映专家对该问卷的认可度。结论通过对103名心血管病专业中医专家的经验总结,为血管重建术后主要证型的辨证标准提供了依据。     

Eosinophilic fasciitis is clinically distinguishable from the eosinophilia-myalgia syndrome and is not associated with L-tryptophan use

Induration of the skin develops in a majority of patients with the eosinophilia-myalgia syndrome associated with L-tryptophan, and bears striking clinical and histopathological resemblance to eosinophilic fasciitis (EF). These similarities have led to the suggestion that eosinophilia-myalgia syndrome and EF are the same disease. To study the relationship of eosinophilia-myalgia syndrome and EF, we ascertained the prevalence of L-tryptophan use in a cohort of patients with EF, and compared their clinical and laboratory findings to those of patients with eosinophilia-myalgia syndrome associated cutaneous involvement. None of 11 patients who were diagnosed as having EF between 1970 and 1989 used L-tryptophan containing preparations prior to the onset of their illness. Marked clinical and laboratory test differences were observed between patients with EF and eosinophilia-myalgia syndrome. Patients with eosinophilia-myalgia syndrome had a more acute onset, more severe symptoms, higher frequency of rash and of pulmonary, cardiac, gastrointestinal, neurologic, myopathic and thyroid involvement compared to patients with EF. Corticosteroid therapy resulted in improvement of cutaneous involvement in 88% of patients with EF but it was only partially successful in patients with eosinophilia-myalgia syndrome. Hospitalization and fatalities occurred only among patients with eosinophilia-myalgia syndrome. These observations demonstrate that eosinophilia-myalgia syndrome is a more severe disease with multisystemic involvement that can be clinically distinguished from EF. In contrast to eosinophilia-myalgia syndrome, EF is not associated with L-tryptophan ingestion.     

代谢综合征与脑梗死患病率的相关分析

目的调查代谢综合征人群中脑梗死的患病率,探讨代谢综合征及其各个组分与脑梗死的关系。方法集中调查门诊就诊的军队干部529例,一般临床资料包括:高血压史、糖尿病史、TG水平及腹围测量(皮尺沿肚脐水平测量)。结果529例患者中,共检出代谢综合征患者214例,其中脑梗死患者158例,占73.8%,高血压、糖尿病及TG升高与脑梗死有显著相关性(P<0.01)。结论代谢综合征与脑梗死关系密切,代谢综合征的所有组分都可能为致病的独立因素。     

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13

Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an autosomal-dominant macrothrombocytopenia combined with neutrophil inclusions that differ from those found in May-Hegglin syndrome or Chediak-Higashi syndrome or the Dohle bodies described in patients with sepsis. These inclusions are, however, similar to those described in Fechtner syndrome. Other features of Alport syndrome, though, including deafness, cataracts, and nephritis, are absent in Sebastian platelet syndrome. Epstein syndrome is characterized by macrothrombocytopenia without neutrophil inclusions, in addition to the classical Alport manifestations-deafness, cataracts, and nephritis-and it is also inherited in an autosomal-dominant mode. We mapped the disease-causing gene to the long arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the Sebastian platelet syndrome, and an American family with the Epstein syndrome. Four markers on chromosome 22q yielded an LOD score greater than 2.76. A maximal 2-point LOD score of 3.41 was obtained with the marker D22S683 at a recombination fraction of 0.00. Recombination analysis placed the disease-causing gene in a 3.37-Mb interval between the markers D22S284 and D22S693. The disease-causing gene interval in these 3 syndromes is similar to the interval described recently in an Israeli family with a slightly different Fechtner syndrome than the one described here. Recombination analysis of these 3 syndromes refines the interval containing the disease-causing gene from 5.5 Mb to 3.37 Mb. The clinical likeness and the similar interval containing the disease-causing gene suggest that the 3 different syndromes may arise from a similar genetic defect.     

Mucocutaneous lymph node syndrome in adults. Differentiation from toxic shock syndrome

Since infantile mucocutaneous lymph node syndrome was first reported in the United States in 1974, a number of cases of so-called Kawasaki syndrome have been reported in adults. A patient with characteristics of both mucocutaneous lymph node syndrome and toxic shock syndrome is described, and 12 cases reported in the American literature are reviewed in an attempt to clarify the differential diagnosis. Most cases initially reported as Kawasaki syndrome are probably toxic shock syndrome.     

中国成年人代谢综合征的患病率

目的本研究旨在提供关于我国35～74岁一般成年人群代谢综合征(MS)及其主要组成成分患病率的最新资料。方法我们于2000-2001年在全国35～74岁的成年人群中代表性地选择了15540例个体进行横断面调查。根据国际糖尿病联盟2004年度推荐的有关中国人MS的标准诊断MS和进行组分分类。结果男女合计，年龄未标化的MS患病率为16．5％。年龄标化后的MS患病率，男女分别为10．0％和23．3％；年龄标化后的患病率，北方和南方地区分别为23．3％和11．5％，城市和农村地区分别为23．5％和14．7％。我国北方居民的MS患病率高于南方居民，城市居民高于农村居民。结论我国成年人中有相当比例的个体患有MS。这些结果提示我国亟需制定面向全国的预防、检测和治疗MS的卫生策略，以降低心血管疾病的社会负担。     

Epidemiology of the metabolic syndrome

The clustering of cardiovascular risk factors, known as the metabolic syndrome, greatly increases the risk of developing diabetes, kidney disease, and cardiovascular disease. Individuals with the metabolic syndrome are also at increased risk for premature death from cardiovascular disease or all-cause mortality. Cross-sectional and longitudinal epidemiologic studies provide prevalence data on the syndrome based on criteria proposed by the World Health Organization and the National Cholesterol Education Program Adult Treatment Panel III. Owing to differences in the criteria, estimates of the prevalence of the syndrome vary according to the criteria used. Generally, the syndrome is more common in older people and in the United States and it is more prevalent among Mexican Americans. Obesity and sedentary lifestyles are major contributing factors to the syndrome and provide opportunities for interventions. Recent data from a randomized controlled trial indicate that a weight loss and exercise intervention reduced the incidence of the metabolic syndrome by 41% among individuals with impaired glucose tolerance. Pharmacologic treatment of the individual components of the metabolic syndrome provides an alternate strategy for managing the syndrome. The rising global epidemics of overweight and obesity will likely lead to increases in the prevalence of the metabolic syndrome posing a serious burden for clinicians and public health officials.     

Thrombotic microangiopathy with liver, gut, and bone infarction (catastrophic antiphospholipid syndrome) associated with HELLP syndrome

Hemolysis, elevated liver enzymes, low platelet count (HELLP) syndrome is a thrombotic microangiopathy complicating pregnancy and shares many clinical and biological features with thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). Thrombotic microangiopathy is also a pathological feature of catastrophic antiphospholipid syndrome (CAPS). An association between refractory HELLP syndrome and antiphospholipid syndrome (APS) has been reported in a few cases. We describe a 19-year-old woman with APS and multiorgan failure conforming to a diagnosis of CAPS who developed refractory HELLP syndrome.