POEMS综合征误为单纯淋巴结肿大1例

正POEMS综合征是一种较为罕见的克隆性浆细胞疾病,是一种以多系统损害为特征的临床综合征,临床表现包括进行性多发性周围神经病、脏器增大、内分泌紊乱、M蛋白升高和皮肤色素沉着,其他伴随症状包括硬化性骨病变、Castleman病、视乳头水肿、外周性水肿、腹腔及盆腔积液、血小板增多、杵状指(趾)等~([1,2])。本病临床上较为罕见,临床表现多样,极易误诊漏诊,为方便临床医师对该病的诊断及鉴别诊     

肾小管酸中毒软骨病3例治疗体会

肾小管酸中毒软骨病,是一种少见病。在基层,人们对它认识不足。临床上极易引起长期误诊,常以风湿病误行治疗,又不易与其它肾性骨病相鉴别。我们近5年诊断治疗了3例典型患者,均取得了良好的结果,总结了一定的经验。同时复习其与范可尼氏综合征,家族性低血磷引起的肾小球骨病的鉴别诊断。     

骨质疏松性骨痛的诊断和防治

１ 引言 随着经济的发展和人民生活水平的改善,人们的寿命正在不断延长,老年人口所占的比例也在逐渐增加,做好老年人的健康保健工作是摆在我们面前的一项非常艰巨的医疗任务。骨质疏松症是一种老年人常见的疾病,骨质疏松症患者容易发生脆性骨折而导致严重后果（如致残、致死）。在未发生骨折以前,其主要的临床表现为骨病,如何做好骨质疏松性骨病的诊断、鉴别诊断和防治,是我们广大临床工作者在实际工作中经常遇到的问题,为此,我们就骨质疏松的诊断标准、鉴别诊断、诊断技术、治疗原则等方面进行归纳总结,希望能对各位同道有所帮助…     

肾小管性酸中毒性4例误诊分析

肾小管性酸中毒(Renal tubular acidosis,RTA)发病隐匿,临床表现复杂,常易误诊、漏诊,以致晚期合并的肌病、骨病,甚至因低血钾突发呼吸肌麻痹及/或心脏骤停而死亡。今列举4例探讨误诊原因,并对鉴别诊断提出一些看法。     

432例骨髓细胞学检查结果分析

骨髓细胞学检查分析对多数血液病及其他一些疾病的诊断、鉴别诊断、疗效观察和愈后判断均有一定的价值。为了了解我院近几年骨髓细胞学检查分析对临床患者的肯定诊     

基于临床病例的骨肿瘤骨病临床-影像-病理多学科诊治学习班(第一期)

正国内首个《基于临床病例的骨肿瘤骨病临床-影像-病理多学科诊治学习班》将于2016年10月29日~10月31日在上海市第六人民医院举行。骨肿瘤骨病的诊断一直是临床的难点,发病率低、病例临床表现复杂多样、疾病鉴别诊断谱广泛、影像学表现多样、病理学表现千变万化、治疗困难。骨肿瘤骨病的诊断通常需要临床、影像学、病理学等多学科联合讨论。     

胃食管反流病12例误诊心绞痛临床分析

目的总结胃食管反流病误诊为心绞痛的原因及鉴别诊断要点。方法回顾性分析2015年2月-2019年6月在我院被误诊为心绞痛的胃食管反流病12例的临床资料。结果本组均以发作性胸痛为首发症状,经心电图、超声心动图等检查首诊为心绞痛,予相关治疗无效后,行胃镜检查确诊为胃食管反流病。首次就诊至确诊时间5~40 d。12例确诊后予兰索拉唑肠溶片+伊托必利分散片+铝镁二甲硅油咀嚼片治疗8周,治愈8例,显效及有效各2例。结论部分胃食管反流病与心绞痛临床症状相似,极易误诊。临床医师需掌握二者临床特点,开拓诊断思维,熟悉鉴别诊断要点,以提高诊断准确率。     

胃癌记分诊断法在超声图像处理系统中的应用

将２３例胃癌患者、３２例胃溃疡患者的典型图像输入医学超声图像工作站，然后使用自行编制的记分法对胃壁厚度、病损长度、胃壁损害层次进行检测、计算。记分≤５诊为良性病变，记分＞５诊为恶性病变，结果２３例胃癌中２２例诊断正确，３３例胃溃疡中３０例诊断正确，记分法对恶性病的敏感性是９５．６％，特异性为９１％，诊断正确性为９２．８％，据此认为在超声图像处理系统中应用本记分法不但使鉴别诊断有了量化指标，而且方便大量图像的整理，有利于科研和临床工作经验的总结。     

鼻咽炎与早期鼻咽癌临床鉴别诊断

目的:探讨鼻咽炎与早期鼻咽癌的临床鉴别诊断方法。方法:回顾性分析2000年1月-2005年12月经我科确诊的28例鼻咽炎和8例早期鼻咽癌患者的临床资料,其中12例鼻咽炎病检前疑诊为鼻咽癌。结果:36例均行鼻咽部CT检查及鼻内镜下取材病检确诊。结论:鼻咽炎与早期鼻咽癌有时不易鉴别,结合鼻咽部CT检查,在鼻内镜下取材病检为临床鉴别诊断的较好方法。     

单基因遗传病基因诊断技术研究进展

单基因遗传病(简称单基因病)种类、分型繁多,常规诊断难以确诊,而基因诊断技术在遗传病特别是单基因病的确诊、分型等方面都发挥着不可或缺的作用.近一、二十年来,基因诊断技术进展迅猛,各种检测方法层出不穷.本文重点围绕基因诊断技术的最新进展进行综述,以期对临床诊断和预防工作提供一些有益的启示.     

Muscular dystrophy

The muscular dystrophies are a genetically heterogeneous group of progressive disorders that lead to the breakdown of the integrity of skeletal muscle. Numerous recent advances made in research into the molecular genetics of muscular dystrophy have highlighted the diversity of this family of disorders. Muscle biopsy allows the immunohistochemical analysis of various muscle specific proteins, and can provide important data enabling definitive diagnosis. Muscle biopsy is not always necessary, such as in the case of Duchenne or Fukuyama type dystrophies, which are relatively easy to diagnose by genetic testing; in such cases, however, consideration must given to the ethical implications of testing. The future promises the development of new therapeutic approaches and clinical applications based on genetic diagnostic data.     

From bench to bedside--the impact of the transfer of the new biology to clinical medicine

Recent advances in cellular and molecular biology have enormous implications for clinical medicine. Of particular interest is the ability to diagnose genetic diseases. Although enormous advances have been made in the diagnosis of monogenic disorders, these diseases account for a relatively small percentage of patients seen in adult medicine. Of more interest in terms of clinical impact are the chronic diseases with a genetic component which occur in about 10% of the population e.g. diabetes mellitus, heart disease, malignancy. If a subgroup of patients with a chronic disease such as diabetes mellitus, who are at particular risk to develop complications, can be identified, the physician will have to convince them to alter their lifestyle. The transfer of basic science to clinical medicine may ultimately lead to a greater emphasis on the art of medicine.     

Diagnostic biomarkers in inflammatory bowel disease

Inflammatory bowel diseases (IBD), which includes ulcerative colitis and Crohn's disease, are chronic intestinal disorders of unknown etiology. The diagnosis of IBD is based upon clinical history, endoscopic, and histological findings; however, accurate diagnosis can still be difficult with these current methodologies. Recent advances in molecular techniques in proteomics and genetic analysis have driven the discovery of novel IBD biomarkers and genetic susceptibility factors that may facilitate the diagnosis of IBD. In the future, biomarkers will play a key role in the diagnosis of IBD and the development of individual courses of treatment.     

Biochemistry and molecular genetics of muscle diseases

The inherited skeletal muscle diseases form a highly heterogeneous group of disorders covering single enzyme defects, complex metabolic disorders, storage diseases, dystrophies and malignant hyperthermia. Whereas these myopathies may be caused by a large number of different biochemical and genetic defects their clinical presentation by contrast is relatively monotonous. with only a few specific findings pointing to a particular molecular defect. This review of the biochemical and molecular genetic basis of these diseases concentrates on 1) disorders in fuel utilization and energy production. 2) disorders in structural integrity or mechanical function, and 3) disorders in contractility and electrophysiological properties of the muscle cell. The authors address the questions of organ-specificity and of a possible relationship between clinical, biochemical, and genetic heterogeneity of metabolic defects, and also try to present the current state of chromosome mapping for such disorders.     

Genetic liver disease in adults. Early recognition of the three most common causes

The most common clinically important genetic diseases leading to liver dysfunction in adults are Wilson's disease, HHC, and alpha 1AT deficiency. Advances in molecular biology have led to the identification and characterization of the genetic defects in these conditions. Consequently, genetic testing for disease-causing mutations is now available for most of these disorders. However, it is important to understand the strengths and limitations of such testing. Genetic testing is probably most helpful in HHC because of the high frequency of the homozygous C282Y mutation among patients of northern European descent and the relatively high penetrance of the mutation with regard to clinical expression. Genetic testing is much less helpful in the other genetic liver diseases because of the high number of possible mutations and variable clinical expression. However, noninvasive phenotype-based screening tests and specific treatments are available for most genetic liver diseases. Appropriate use of screening tests in routine clinical practice can assist in early identification of genetic liver diseases and prevent development of end-organ damage.     

Genetics of dementia

Many neurodegenerative diseases are exceedingly complex disorders (Fig. 6). In the past decade, we have made tremendous advances in our understanding [figure: see text] of the genetic basis of these disorders. One common characteristic of these disorders is the existence of rare families in which a given disease is inherited as a Mendelian trait. In this article, we have reviewed the genetics of several common neurodegenerative disorders that are associated with cognitive disturbances and for which causative genes have been identified. Further genetic analysis should clarify the roles of known genes in the pathogenesis of common sporadic forms of these various diseases. Investigation of the normal and aberrant functions of these genes should provide insight into the underlying mechanisms of these disorders. Such research should facilitate new strategies for therapeutic interventions. Although molecular genetics has helped to clarify the etiology of these disorders, clinicians have played a critical role in the careful identification and classification of many families who were involved in the eventual mapping and cloning of causative mutations. The role of the clinician should not be underestimated. Future clinical and molecular genetics findings hold many clinical implications. It is likely that new diagnostic and therapeutic strategies for dementing disorders are just on the horizon.     

Some clinical implications of recombinant DNA technology with emphasis on prenatal diagnosis of hemoglobinopathies

Recombinant DNA technology has made possible remarkable advances in understanding the molecular genetics of human and other eucaryotic cells. This technology also has clinical applications, some of which may soon involve clinical laboratories. Restriction endonucleases and cloned DNA probes permit the direct analysis of cellular DNA to detect sequence abnormalities associated with particular genetic disorders. Use of this approach in the antenatal diagnosis of hemoglobinopathies is now possible on a routine basis. The principles behind the methods are quite general and may be applied to other hereditary diseases once suitable DNA probes become available. The same approach may be used to detect carriers of recessive gene defects and so improve genetic counselling. Other clinically related applications of recombinant DNA technology include the production of antigens for vaccine preparation and of specific human proteins (e.g. interferon and human growth hormone) for therapeutic use, as well as the use of nucleic acid hybridization for identification of microbial pathogens. It seems likely that recombinant DNA technology will, in the future, play an increasingly important role in the diagnosis, prevention and treatment of human disease.     

Genetics of neuromuscular disorders

Neuromuscular disorders affect the peripheral nervous system and muscle. The principle effect of neuromuscular disorders is therefore on the ability to perform voluntary movements. Neuromuscular disorders cause significant incapacity, including, at the most extreme, almost complete paralysis. Neuromuscular diseases include some of the most devastating disorders that afflict mankind, for example motor neuron disease. Neuromuscular diseases have onset any time from in utero until old age. They are most often genetic. The last 25 years has been the golden age of genetics, with the disease genes responsible for many genetic neuromuscular disorders now identified. Neuromuscular disorders may be inherited as autosomal dominant, autosomal recessive, or X-linked traits. They may also result from mutations in mitochondrial DNA or from de novo mutations not present in the peripheral blood DNA of either parent. The high incidence of de novo mutation has been one of the surprises of the recent increase in information about the genetics of neuromuscular disorders. The disease burden imposed on families is enormous including decision making in relation to presymptomatic diagnosis for late onset neurodegenerative disorders and reproductive choices. Diagnostic molecular neurogenetics laboratories have been faced with an ever-increasing range of disease genes that could be tested for and usually a finite budget with which to perform the possible testing. Neurogenetics has moved from one known disease gene, the Duchenne muscular dystrophy gene in July 1987, to hundreds of disease genes in 2011. It can be anticipated that with the advent of next generation sequencing (NGS), most, if not all, causative genes will be identified in the next few years. Any type of mutation possible in human DNA has been shown to cause genetic neuromuscular disorders, including point mutations, small insertions and deletions, large deletions and duplications, repeat expansions or contraction and somatic mosaicism. The diagnostic laboratory therefore has to be capable of a large number of techniques in order to identify the different mutation types and requires highly skilled staff. Mutations causing neuromuscular disorders affect the largest human proteins for example titin and nebulin. Successful molecular diagnosis can make invasive and expensive diagnostic procedures such as muscle biopsy unnecessary. Molecular diagnosis is currently largely based on Sanger sequencing, which at most can sequence a small number of exons in one gene at a time. NGS techniques will facilitate molecular diagnostics, but not for all types of mutations. For example, NGS is not good at identifying repeat expansions or copy number variations. Currently, diagnostic molecular neurogenetics is focused on identifying the causative mutation(s) in a patient. In the future, the focus might move to prevention, by identifying carriers of recessive diseases before they have affected children. The pathobiology of many of the diseases remains obscure, as do factors affecting disease severity. The aim of this review is to describe molecular diagnosis of genetic neuromuscular disorders in the past, the present and speculate on the future.     

A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency

Two hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate-cysteine disulfideuria and sulfite oxidase deficiency, were described twenty years ago. Other examples of these disorders have been limited to about 5 of each in the world literature since then. Reasons for the apparent rarity of these conditions are discussed and the analytical procedures to identify them are reviewed. The detection of the first depends on the positive result of a cyanide-nitroprusside test followed by positive identification of the specific mixed disulfide. The enzyme mercaptopyruvate sulfur transferase has been shown to be deficient. In the second disorder of sulfite oxidase deficiency, the clinical presentation with progressive dystonia and dislocated lenses in an infant should suggest further laboratory investigations for this disorder which would not be detected by conventional laboratory screening procedures. Laboratory diagnosis can be obtained by use of the Merckoquant sulfite test on a fresh urine sample. Quantitative thiosulfate and taurine measurements can also be made. Positive identification of the specific amino acid S-sulfo-L-cysteine should also be made. The enzyme sulfite oxidase is missing from such organs as liver, kidney and brain. This latter condition may also be associated with xanthinuria. For this combined disorder of sulfite oxidase and xanthine oxidase, a deficiency of a molybdenum-containing cofactor has been demonstrated.     

Molecular diagnostics of genetic eye diseases

Eye diseases can be simple or complex, and mostly of heterogeneous molecular genetics. Some eye diseases are caused by mutations in a single gene, but some diseases, such as primary open angle glaucoma, can be due to sequence variations in multiple genes. In some diseases, both genetic and epigenetic mechanisms are involved, as was recently revealed in the mechanism of retinoblastoma. Disease causative mutations and phenotypes may vary by ethnicity and geography. To date, more than a hundred candidate genes for eye diseases are known, although less than 20 have definite disease-causing mutations. The three common genetic eye diseases, primary open angle glaucoma, age-related macular degeneration, and retinitis pigmentosa, all have known gene mutations, but these account for only a portion of the patients. While the search for eye disease genes and mutations still goes on, known mutations have been utilized for diagnosis. Genetic markers for pre-symptomatic and pre-natal diagnosis are available for specific diseases such as primary open angle glaucoma and retinoblastoma. This paper reviews the molecular basis of common genetic eye diseases and the available genetic markers for clinical diagnosis. Difficulties and challenges in molecular investigation of some eye diseases are discussed. Establishment of ethnic-specific disease databases that contain both clinical and genetic information for identification of genetic markers with diagnostic, prognostic, or pharmacological value is strongly advocated.