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1.
In Japan, criteria for the diagnosis of HIV infection and AIDS have been revised in 1999. For the diagnosis of HIV infection, HIV-positivity has to be confirmed by western blot test or nucleic acid tests such as PCR for HIV when the results of screening tests for anti-HIV antibodies (ELISA) are positive. Diagnosis of AIDS can be made when HIV-infected persons show any one of 23 indicator diseases. Criteria for the diagnosis of these 23 diseases are described. The indicator disease most frequently seen in Japan is Pneumocystis carinii pneumonia followed by candidiasis, cytomegalovirus infection, tuberculosis and non-tuberculous mycobacteriosis in this order. The number of new cases of AIDS is still increasing every year.  相似文献   

2.
Gene mutations in retinitis pigmentosa and their clinical implications   总被引:9,自引:0,他引:9  
Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases affecting about 1 in 3500 people worldwide. So far, there is no prevention or cure, with permanent visual loss or even blindness the ultimate consequence usually after midlife. The genetics of RP are complex. It can be sporadic, autosomal dominant, autosomal recessive, or X-linked. Thirty-two genes are known to be associated with RP, sometimes the same gene gets involved in different inheritance traits. Some RP cases have a digenic cause. About 60% RP cases still have no known genetic cause. A large number of mutations cause RP, and they can be deletions, insertions, or substitutions that cause missense mutations or truncations. The RHO, RP1, and RPGR genes contribute the greatest number of known mutations causative of RP. But there is no single mutation that alone accounts for more than 10% of unrelated patients. Genetic testing for RP therefore requires screening for a group of genes. High-throughput and automated sequence detection technologies are essential. Due to the complexity in phenotype and genetics, and the fact that RP is untreatable, genetic testing for presymptomatic diagnosis of RP is controversial. Meanwhile, new genes are still to be identified, mostly by family linkage and sib-pair analysis. Research on gene therapy for RP requires information on gene mutations causative of RP.  相似文献   

3.
West Nile virus (WNV) is a mosquito-borne flavivirus responsible for an increasing number of human outbreaks of neuroinvasive disease in Europe and in North America. Notwithstanding the improvements in the knowledge of virus epidemiology and clinical course of infection and the development of new laboratory tests, the diagnosis of WNV infection remains challenging and many cases still remain unrecognized. WNV genome diversity, transient viremia with low viral load and cross-reactivity with other flaviviruses of the antibodies induced by WNV infection are important hurdles that require the diagnosis to be performed by experienced laboratories. Herein, we present and discuss the novel findings on the molecular epidemiology and clinical features of WNV infection in humans with special focus on Europe, the performance of diagnostic tests and the novel methods that have been developed for the diagnosis of WNV infection. A view on how the field might evolve in the future is also presented.  相似文献   

4.
Neurosarcoidosis     
Sarcoidosis is a chronic systemic disease of unknown causes characterized by noncauseating granuloma in various organs. Neurological involvement occurs in 5-6% of patients with sarcoidosis. Most patients with neurosarcoidosis have extraneurologic abnormalities and extraneurologic biopsies usually support the diagnosis, however, nearly half of the patients with neurosarcoidosis present with neurological manifestations without systemic symptoms. Several cases of isolated neurosarcoidosis have been reported, making the diagnosis difficult. Although several diagnostic criteria have been proposed, neuropathological examination is required for the definite diagnosis. Brain biopsy may still be required in selected patients. Since it is often difficult to perform, clinical assessment with various combinations of modern neuroimaging techniques is important. Lumbar puncture is useful to rule out other diseases but CSF changes are not specific. Elevated serum ACE level is also not a specific diagnosis test. Any part of the CNS can be involved, but there is predilection for hypothalamus, pituitary gland, leptomeninges, and cranial nerves particularly facial nerve. Although corticosteroids are the main stay of therapy, refractory cases can be treated by immunosuppressive and radiation therapy.  相似文献   

5.
A number of patients attending specialty headache centers complain of very frequent, almost continuous headaches, which are usually grouped together under the term chronic daily headache (CDH), a category which does not appear in the International Headache Society (IHS) classification published in 1988. More than 10 years later, this issue is still debated, also in light of the foreseen revised classification. Several terms have been used to define the clinical picture of CDH, and different criteria have been proposed for the diagnosis of these forms. In most cases, CDH appears to evolve from an episodic migraine, but the temporal limits between an episodic and a no-longer episodic form of migraine are questionable. Although some theoretic problems remain unresolved, it seems that the next revision of the IHS classification can no longer ignore the existence of CDH.  相似文献   

6.
多发性硬化的诊断通常比较困难,及时、正确的诊断对疾病的早期治疗和预后有重要的作用。磁共振成像是常规用于检测脑白质病变的较敏感的工具,但其诊断特异性仍不理想,故临床上经常出现诊断不明确的病例。MRI对颅内静脉周围的病灶的检测提高了诊断的特异性,对颅内中央静脉征的发现有望成为诊断的标志物。研究证明,白质病灶中中央静脉征的存在有助于区分多发性硬化和与其类似的炎性疾病及自身免疫性疾病。该文系统分析中央静脉征在头颅磁共振的特征及其在多发性硬化诊断和鉴别方面的作用,为临床提供重要线索。  相似文献   

7.
Necrotizing fasciitis (NF), a life-threatening rare infection of the soft tissues, is a medical and surgical emergency. It is characterized by subtle, rapid onset of spreading inflammation and necrosis starting from the fascia, muscles, and subcutaneous fat, with subsequent necrosis of the overlying skin. Once suspected, immediate and extensive radical debridement of necrotic tissues is mandatory. Appropriate antibiotics and intensive general support avoid massive systemic diffusion of the infective process and are the key for successful treatment. However, early diagnosis is missed or delayed in 85% to 100% of cases in large published series: because of the lack of specific clinical features in the initial stage of the disease, it is often underestimated or confused with cellulitis or abscess. Mortality rates are still high and have shown no tendency to decrease in the last 100 years. Unfortunately, the prevalence of the disease is such that physicians rarely become sufficiently confident with NF to be able to proceed with rapid diagnosis and management. This review covers the literature published in MEDLINE in the period 1970 to December 31, 2010. Particular attention is given to the clinical and laboratory elements to be considered for diagnosis. A wide variety of diagnostic tools have been described to facilitate and hasten the diagnosis of NF, but the most important tool for early diagnosis still remains a high index of clinical suspicion.  相似文献   

8.
目的由于侵袭性甲状腺炎在临床上极为少见,在手术前很难得有明确的诊断,误诊率高,通过总结,对该病在临床上能够有进一步认识,并进行正确的治疗。方法通过对我院1965年6月至2006年11月以来的11例侵袭性甲状腺炎的病例回顾性研究,从对发病原因、临床特点以及治疗方法进行探讨和总结。结果本组病例中,手术前均诊断为甲状腺肿瘤,手术中冰冻病理也仅有4例明确诊断为侵袭性甲状腺炎,11例病例均行手术治疗,手术后长期随访中恢复良好,没有复发。结论侵袭性甲状腺炎虽然不易与甲状腺肿瘤进行鉴别,但是在临床上仍然有其自身的特点,并能够在一定程度上提高该病的术前诊断率。手术治疗是对该病最有效的治疗方法。  相似文献   

9.
The data brought together in this report have been gathered from a wide territory and for a period extending over several years. The antimeningitis serum was first employed in 1906 and the latest figures relating to its use included in this report were furnished in 1912. There is no longer doubt that the serum has come to be applied under conditions fairly representing all known manifestations of epidemic meningitis. Hence the test of the serum treatment may be regarded as having been a rigorous one. The initial difficulties surrounding the administration by direct subdural injection have been largely overcome and doubtless will be still further mastered. Already the serum is being successfully applied in private as well as in hospital practice. This gain will probably be reflected in a still further diminution of the mortality since early injection plays such a large part in determining the results achieved. The 1,300 cases studied in this report are a part only of a far greater number of cases actually treated with the serum supplied by the Rockefeller Institute. It was not found possible to secure histories of all the cases treated; but there is no reason to suppose that the results of the analysis would have been essentially different if reports of a still larger number of cases had been returned. The decision arrived at is not based upon statistical computations alone, but upon objective data as well that are not readily misinterpreted. The conclusion that follows was first stated in 1909 as the result of an analysis of 400 serum-treated cases. It is supported by the study of the larger series of cases just presented. "In view of the various considerations presented, the conclusion may be drawn that the antimeningitis serum, when used by the subdural method of injection, in suitable doses and at proper intervals, is capable of reducing the period of illness; of preventing, in large measure, the chronic lesions and types of the infection; of bringing about complete restoration of health, in all but a very small number of the recovered, thus lessening the serious, deforming, and permanent consequences of meningitis; and of greatly diminishing the fatalities due to the disease."  相似文献   

10.
Spinal epidural abscess (SEA) is a rare but severe infection requiring prompt recognition. The major prognostic factor for a favourable outcome is early diagnosis, leading to appropriate treatment. In clinical practice, a diagnosis of SEA is often not considered, particularly in the early stages of the disease when neurological symptoms are not apparent. Knowledge of persons at risk, clinical features and the required diagnostic procedures may decrease the number of initially misdiagnosed cases. Clinical signs, duration of symptoms and the rate of neurological deterioration show a high inter-individual variability, and the classic triad (spinal pain, fever and neurological deficit) is often not found, especially not at first presentation to a physician. However, most patients complain of severe localized back pain. Inflammatory parameters in the blood are generally elevated, but not specific. Gadolinium-enhanced magnetic resonance imaging is the most sensitive, specific and accurate imaging method. Although neurosurgical decompression is still the treatment of choice in the majority of cases, less invasive procedures (e.g. computed tomography-guided needle aspiration) or antimicrobial treatment alone can be applied in selected cases. The choice of the most appropriate therapy should be discussed immediately after a confirmed diagnosis in consultation with infectious disease, radiology and spinal surgery specialists. The outcome of SEA is largely influenced by the severity and duration of neurological deficits prior to surgery, stressing the importance of early recognition.  相似文献   

11.
The diagnosis of "viral myocarditis" remains uncertain in most cases, despite varied efforts to obtain diagnostic criteria and techniques. The combination of virological, histological and immunohistological data may offer an opportunity to improve diagnosis. The pathophysiological processes which are involved in the transition from myocarditis into dilated cardiomyopathy are still unclear. A variety of new data point out that viral infection induces a loss of self-tolerance and subsequent autoaggression towards myocardial structures. The management of viral myocarditis remains problematic and a specific form of therapy still does not exist. Studies on immune suppressive therapy are contradictory. Moreover, in these studies the diagnostic criteria were non-uniform and the number of patients was low. Nevertheless, immune suppressive therapy can be very effective in individual cases. But until now, a clear decision cannot be made on the selection of those patients who would respond favourably to immune suppressive therapy. Only controlled studies which consider the aetiology, the grade of clinical severity, the duration of clinical symptoms, the degree of cellular infiltration, and the histological alterations may answer the questions concerning the benefit of immune suppressive therapy for viral myocarditis and its sequelae. Until these studies are available, the general implementation of immune suppressive therapy in viral heart disease should not be recommended, especially in view of the incidence of side effects.  相似文献   

12.
When people overuse their legs they develop an uncomfortable awareness of these limbs manifested as a dull burning or aching. The cause is often clear to the person with the problem as a result of the often obvious relationship to overdoing an exercise or activity and the pain. “Shin splints” is the lay term; physicians use the term medial tibial stress syndrome. The pathophysiology that leads to this pain is unclear, although there are a number of competing theories. Differential diagnosis includes stress fractures and compartment syndromes. Bone tumors or lipomas can also cause similar pain to shin splints. Diagnosis can be made by history alone in a majority of cases, but if the diagnosis is unclear, an X-ray and magnetic resonance imaging should be considered. Treatment is still mostly supportive and symptom related. Rest is the most important aspect of treatment. Locally applied cold and anti-inflammatory medication have also been felt to be beneficial. The authors has stated that they do not have a significant financial interest or other relationship with any product manufacturer or provider of services discussed in this article. The authors do not discuss the use of off-label products, which includes unlabeled, unapproved, or investigative products or devices.  相似文献   

13.
张玲 《临床荟萃》2014,(6):601-604
结核病是严重危害公众健康的全球性公共卫生问题,我国是全球第二大结核病高负担国家。第5次全国流行病学调查显示,我国约5.5亿人口曾感染结核,每年新发生活动性肺结核110万~150万例,其中传染性肺结核65万例。耐药结核仍较严重,耐多药结核(MDR-TB)患者12万例,耐多药(MDR)率6.8%,广泛耐药(XDR)率2.1%。对结核病的早期诊断、规范治疗及控制耐药结核是降低结核发病率的有效措施。由于临床表现不典型、潜伏性结核感染及结核耐药问题导致我国的结核疫情防控形势依然严峻。实验室检查是诊断结核的重要手段,常用的实验室诊断技术包括细菌学检测方法、分子生物学检测方法、免疫学检测方法等。在治疗过程中,需要考虑的重要因素有:早期正确的治疗、督导用药及耐药的尽早发现。对于MDR-TB患者治疗期间,建议使用痰涂片和培养检查进行治疗监测。对耐药结核患者应及早异烟肼和利福平耐药基因检测及快速结核菌培养药物敏感性试验。  相似文献   

14.
58例小儿肺结核X线征象分析   总被引:2,自引:0,他引:2  
目的:分析小儿肺结核的X线表现特点,旨在提高X线诊断符合率。材料与方法:随机抽取已被证实为肺结核的58例小儿胸部X线片进行对比分析、总结其X线表现特点。结果:原发综合征19例,支气管淋巴结核32例,其它不典型征象7例。结论:小儿肺结核X线表现具有非特异性征,与X线表现不尽一致,只有将X线特点与临床结合,才能做出比较准确的诊断。  相似文献   

15.
SUMMARY The value of the symptom pattern in achieving an accurate diagnosis in dyspeptic disease is still controversial. A number of investigators have used it to distinguish those patients who are at a high risk of serious disease (ulcer or cancer) from those who are not. Such findings have important implications for patient management, both in clinical and economic terms.  相似文献   

16.
Herfarth H  Rogler G 《Endoscopy》2005,37(1):42-47
This review summarizes important publications that have appeared during the last year dealing with imaging techniques and endoscopy, as well as the management of low-grade dysplasia and stenosis in inflammatory bowel disease. Magnetic resonance enteroclysis and capsule endoscopy are currently emerging as new imaging techniques for the small bowel in Crohn's disease. While magnetic resonance enteroclysis is, at least in Europe, increasingly being used as a reference method, the value of capsule endoscopy for the management of inflammatory bowel disease is still being evaluated. Chromoendoscopy is being studied in patients with long-lasting ulcerative colitis and may be a promising and sensitive technique for the diagnosis of dysplasia. However, there are conflicting data regarding the appropriate management when low-grade dysplasia is diagnosed in patients with ulcerative colitis. Endoscopic dilation can often be successfully carried out in cases of intestinal stenosis. The results of long-term follow-up studies indicate that several dilation procedures are often necessary and that a relatively high percentage of patients still have to undergo surgery.  相似文献   

17.
Many causes of esophagitis exist in immunocompromised patients. Uncommon pathogens must be considered to facilitate timely and appropriate therapy. A limited number of cases of esophageal actinomycosis have been reported. This report describes an unusual case of esophageal actinomycosis in a patient with persistent dysphagia. The broad differential may have delayed definitive diagnosis in the case study patient. Biopsy and culture are essential for accurate diagnosis. Although actinomycosis is a rare disease, it should be included in the differential diagnosis of patients presenting with oral or esophageal complaints. It may also be considered as an opportunistic infection in immunocompromised patients. The treatment of choice is parenteral penicillin G, 18 to 24 million units for 2 to 6 weeks followed by oral therapy for 6-12 months.  相似文献   

18.
自2019年12月份以来,2019 新型冠状病毒(2019 novel coronavirus,2019-nCoV)肺炎在武汉局部爆发,波及全国,蔓延世界。该疾病传染性较强,虽此病以轻症为主,但仍有一定死亡率,尽管世界各国都采取相应措施,但是COVID-19感染者数量仍然持续增加,疫情形势依然严峻,截止2月26日全国累计确诊78191人,死亡2718人,在目前及以后需要手术治疗的患者中难免会有COVID-19感染者,但是外科医护及相关人员在积极救治患者的同时自身防护非常重要,因手术导致医护交叉感染的发生应避免发生。为规范脊柱外科患者合并这一新发传染病的诊治,特制订上海市公共卫生临床中心关于“脊柱外科患者合并COVID-19感染”的诊疗建议方案。  相似文献   

19.
恶性胸膜间皮瘤(MPM)是一种少见的,恶性程度高、病变广,早期诊断较为困难,病死率高,治疗效果差的疾病。在我国发病率仍呈上升趋势。内科治疗主要以化疗为主,培美曲塞联合顺铂是目前一线治疗的标准方案。对于复发的MPM患者,疾病难以控制,二线化疗方案选择性少,单药培美曲塞可作为二线治疗用药。近年来,靶向治疗成为肿瘤治疗的研究热点,MPM的靶向药物虽有一定效果,但临床仍未广泛使用,由于缺乏大量的多中心随机对照研究,仍需进一步证实。  相似文献   

20.
新型冠状病毒肺炎(COVID-19)传染性较强,虽此病以轻症为主,但仍有一定病死率。尽管世界各国都采取相应措施,但COVID-19患者数量仍持续增加,疫情形势依然严峻,截至2月26日全国累计确诊78 191例,死亡2 718例。今后需要手术治疗的患者中难免会有COVID-19患者,外科医护及相关人员在积极救治患者的同时,自身防护也非常重要,应避免发生因手术导致医护交叉感染。为规范脊柱外科患者合并这一新发传染病的诊治,特制定上海市公共卫生临床中心关于"脊柱外科患者合并COVID-19"的诊疗规范。  相似文献   

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