Differential diagnosis in patients with disorders of the patellofemoral joint.

Anterior knee complaints are difficult diagnostic problems. It cannot be overstated that the most important information available is to be found in the patient''s history. Onset, quality, and quantity of symptoms must be assessed. This information is then synthesized to determine the specific functional disabilities resulting from the patient''s anterior knee disorder. Once a history is obtained, a consistent, methodical physical examination can be performed to narrow the differential diagnosis. Radiographic evaluation is used to further hone the differential or to confirm the most likely diagnosis. Ultimately, a specific working diagnosis is selected and treatment is tailored to changing the underlying structural or biomechanical abnormalities that led to the patient''s complaints.     

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ～1 y of symptom onset. The cause of death was reported as “rapid onset dementia.” The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD. The family had additional questions about the implications of this result and thus independently sought out genetic counseling.

?While rare, fCJD is likely underdiagnosed due to clinical heterogeneity, rapid onset, early non-specific symptomatology, and overlap in the differential diagnosis of Alzheimer disease and Lewy body dementias. When fCJD is identified, a multidisciplinary approach to return of results that includes the affected patient's provider, genetics professionals, and mental health professionals is key to the care of the family. We present an example case which discusses the psychosocial issues encountered and the role of genetic counseling in presymptomatic testing for incurable neurodegenerative conditions. Ordering physicians should be aware of the basic issues surrounding presymptomatic genetic testing and identify local genetic counseling resources for their patients.     

Impact of bile acids on the growth of human cholangiocarcinoma via FXR

Mast cell activation disease comprises disorders characterized by accumulation of genetically altered mast cells and/or abnormal release of these cells' mediators, affecting functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing. In most cases of mast cell activation disease, diagnosis is possible by relatively non-invasive investigation. Effective therapy often consists simply of antihistamines and mast cell membrane-stabilising compounds supplemented with medications targeted at specific symptoms and complications. Mast cell activation disease is now appreciated to likely be considerably prevalent and thus should be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity or patients in whom a definitively diagnosed major illness does not well account for the entirety of the patient's presentation.     

The role of computers in preventive medicine in a rural family practice.

Five family physicians in a group practice in rural Quebec have introduced a computer system to improve the delivery of preventive medicine. In addition to billing, the computer is used mainly to recall specific groups of patients for preventive measures, to prompt the physicians to carry out certain procedures at the patient''s next visit, to indicate which procedures are required for the family members and to generate reminder letters. The physicians are conducting a randomized controlled trial to evaluate the impact of computer-generated reminder letters on patient compliance and disease prevention among families in their practice.     

青少年GATA2缺陷继发骨髓增生异常综合征一例并文献复习

摘要 目的：提高对青少年GATA2缺陷继发骨髓增生异常综合征（MDS）疾病的认识。方法：回顾性分析我院收治的1例青少年GATA2缺陷继发MDS患者的诊疗过程,并结合相关文献进行复习总结。结果：患者男,17岁,2018年6月于我科诊断为MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危),继发骨髓纤维化。完善血液遗传全外显子基因检查提示患者GATA2基因突变。修正诊断为GATA2缺陷综合征、继发MDS( MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危) 、继发骨髓纤维化。完善患者姐姐血常规检查提示白细胞轻度减少,检查患者姐姐GATA2基因检测到GATA2基因错义突变。患者治疗期间反复出现多部位感染。进一步检查患者父母GATA2基因提示患者父亲GATA2基因存在错义突变。患者GATA2基因突变系父系遗传。结论：对于青少年MDS患者,应对其进行血液遗传学全外显子基因检查以确认其有无先天性疾病;对于存在先天性基因突变的患者,建议行家系筛查,并尽早行造血干细胞移植治疗。     

Clinical Examination Protocol to Detect Atypical and Classical Scrapie in Sheep

The diagnosis of scrapie, a transmissible spongiform encephalopathy (TSEs) of sheep and goats, is currently based on the detection of disease-associated prion protein by post mortem tests. Unless a random sample of the sheep or goat population is actively monitored for scrapie, identification of scrapie cases relies on the reporting of clinical suspects, which is dependent on the individual''s familiarization with the disease and ability to recognize clinical signs associated with scrapie. Scrapie may not be considered in the differential diagnosis of neurological diseases in small ruminants, particularly in countries with low scrapie prevalence, or not recognized if it presents as nonpruritic form like atypical scrapie. To aid in the identification of clinical suspects, a short examination protocol is presented to assess the display of specific clinical signs associated with pruritic and nonpruritic forms of TSEs in sheep, which could also be applied to goats. This includes assessment of behavior, vision (by testing of the menace response), pruritus (by testing the response to scratching), and movement (with and without blindfolding). This may lead to a more detailed neurologic examination of reporting animals as scrapie suspects. It could also be used in experimental TSE studies of sheep or goats to evaluate disease progression or to identify clinical end-point.     

Chest Radiography in Intensive Care Units

The role chest radiography plays in intensive care units (ICU) is unlike its role elsewhere because in the ICU a patient''s underlying disease is usually known. Furthermore, additional diseases that develop in the ICU—such as pneumonia, hemorrhage, edema, lung collapse and effusion—often are radiographically indistinguishable. Nevertheless, an ICU radiograph of the chest is valuable, mainly in identifying such complications as malpositioned intravenous catheters, Swan-Ganz catheters, pacemakers, nasogastric tubes, endotracheal tubes, chest tubes, and mediastinal tubes, and ectopic gas related to mechanical ventilation. Understanding the limitations of the portable ICU chest film in the diagnosis of specific diseases and being alert to possible iatrogenic complications will increase the usefulness of ICU chest radiography.     

Access to coronary catheterisation: fair shares for all?

OBJECTIVE--To determine the effects of patient''s sex and area''s material deprivation on utilisation rates of coronary catheterisation and angiography in the investigation of ischaemic heart disease. DESIGN--Retrospective analysis of routinely collected hospital statistics. SETTING--Acute hospitals throughout Northern Ireland. SUBJECTS--24,179 episodes of patients discharged from hospital with a primary diagnosis of ischaemic heart disease and 1270 episodes relating to patients with an underlying diagnosis of ischaemic heart disease who had either coronary catheterisation or angiography. MAIN OUTCOME MEASURES--Age standardised admission rates for heart disease and age standardised utilisation rates for catheterisation or angiography, or both, for 566 electoral wards ranked by Townsend "deprivation" scores. RESULTS--Catheterisation-angiography rates in men were over fivefold those of women, ranging from 85.5/100,000 v 16/100,000 in patients from "well off" areas to 123/100,000 v 22/100,000 for patients from deprived areas. After admission rates for heart disease were controlled for, the overall rate ratio for women was 0.48 (95% confidence interval 0.38 to 0.60). After differential admission rates for heart disease and other potential clinical confounders were controlled for, the investigation rates of patients from the least and most "deprived" areas were not significantly different (rate ratio 1.04 (0.87 to 1.25)). CONCLUSION--Although investigation rates were significantly lower in women than in men, further clinical data would be required before labelling this underutilisation as evidence of bias. There was no significant difference in invasive investigation rates for heart disease in areas of varying deprivation or affluence.     

A 2-year assessment of a microcomputer based local-area network system for managing perinatal medical information

Based on a 2-year experience using a perinatal information system and a microcomputer-based local area network (LAN), we assessed the LAN system to see how it provided positive feedback in daily perinatal practice. Discussed herein are the results pertaining to the compatibility between data on conventional patient's charts and that input into the computer system, along with a review of the data-base acquired, containing a large quantity of perinatal medical information.     

Imagerie moléculaire de la maladie de Parkinson : données actuelles

During the last years, knowledge and concepts concerning Parkinson's disease and other parkinsonian syndromes have progressed: a concept of network pathology with different clinical presentations and evolutions, involving several neurotransmission pathways succeeeded the single dopaminergic lesion concept. Imaging also changed with the development of MRI. In this context, the aim of this work is to bring up-to-date methodology and clinical contribution of dopaminergic neuron imaging. Nigrostriatal neuron imaging (dopamine transporter imaging) contributes to diagnosis of Parkinson's disease and Lewy body dementia. Dopamine receptor imaging mainly helps in differential diagnosis of parkinsonian syndromes (Parkinson's disease and Parkinson plus syndromes). The ongoing development of dopaminergic, cholinergic, serotoninergic tracers and the recent emergence of amyloid plaques and neurofibrillary tangles imaging open perspectives for molecular imaging and care of neurodegenerative diseases.     

Réflexions sur la place des médecins spécialistes en médecine nucléaire dans le dispositif d’annonce en cancérologie

Nuclear medicine physicians are very involved in French's oncology announcement procedure. However, their role needs to be analysed and evaluated. Before diagnosis’ announcement, information provided by nuclear medicine physicians are never neutral for patients. Information must not increase patient's anxiety or false patient's sense of reassurance. In this context, it seems necessary to engage in ethical reflexions about nuclear medicine physicians communication challenges.     

TOXOPLASMOSIS—The Protean Manifestations of the Condition and Their Significance in Pregnancy and in Newborn Infants

Toxoplasmosis is a relatively common and generally mild parasitic infection which can, however, produce fatal and crippling complications under certain conditions — particularly when a human fetus or a newborn infant is infected. In this instance, the infection is the result of a spread of the acquired disease which may occur in the mother in the last six months of pregnancy. Although the infection of adults can be dangerous and fatalities have been reported, the danger to the nervous system, eyes and other structures of the newborn infant can be devastating—blindness, brain damage and mental deficiency, particularly as the result of an obstruction to the flow of circulating cerebrospinal fluid within the brain.This report covers a number of differing features of the disease which have been described separately by other authors in specialty journals and in the foreign literature. If present, these signs should suggest toxoplasmosis, particularly in pregnancy, in the newborn infant and in still-born infants.Early diagnosis is of paramount interest in view of the poor response which may be obtained in the treatment of subacute and chronic phases of the illness. Difficulties in diagnosis stem from the manifestations of toxoplasmosis which closely resemble the symptoms of other infectious diseases.The clinical laboratory diagnosis is made by the isolation of the organism or by the demonstration of immune protein in the patient''s serum.     

Analysis of Micro-RNA-144 Expression Profile in Patients with Multiple Sclerosis in Comparison with Healthy Individuals.

Background:Etiology of multiple sclerosis is non-clarified. It seems that environmental factors impact epigenetic in this disease. Micro-RNAs (MIR) as epigenetic factors are one of the most important factors in non-genetically neurodegenerative diseases. It has been found MIR-144 plays a main role in the regulation of many processes in the central nervous system. Here, we aimed to investigation of MIR-144 expression alteration in Multiple sclerosis (MS) patients.Methods:In this study 32 healthy and 32 MS patient''s blood sample were analyzed by quantitative Real-Time PCR method and obtained data analyzed by REST 2009 software.Results:Analysis of Real-Time PCR data revealed that miR-144 Increase significantly in MS patients compared to healthy controls.Conclusion:The increase of MIR-144 expression in MS patients is obvious. MIR-144 can be used as a biomarker of MS and help to early diagnosis and treatment of this disease.Key Words: MicroRNA (miRNA), MiRNA-144, Multiple Sclerosis (MS)     

APOPLEXY IN YOUNG ADULTS—DIAGNOSTIC AND THERAPEUTIC OBSERVATIONS

Apoplexy in young adults is due to rupture of an artery or to obstruction, as by clot, by embolus, or by transitory vasospasm. In differential diagnosis, tumor and demyelinizing disease must be considered.Spinal fluid study helps to differentiate between hemorrhagic stroke and stroke due to vascular block. In hemorrhagic stroke, search for the site of bleeding is imperative and angiography, the preferred method of study, should be carried out as soon as the patient''s general condition permits.In vascular occlusive stroke, measures to maintain the blood pressure and to dilate collateral channels are often helpful. Stellate block is most valuable in the acute phase immediately following embolism or thrombosis. In a small percentage of chronic cases, stellate block may be followed by significant recovery of function. Benefit may also be derived at times from systemic vasodilators such as niacin and intravenously administered histamine.     

NCL diseases — clinical perspectives

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and together are the most common degenerative brain diseases in childhood. They are a group of disorders linked by the characteristic accumulation of abnormal storage material in neurons and other cell types, and a degenerative disease course. All NCLs are characterized by a combination of dementia, epilepsy, and motor decline. For most childhood NCLs, a progressive visual failure is also a core feature. The characteristics of these symptoms can vary and the age at disease onset ranges from birth to young adulthood. Genetic heterogeneity, with fourteen identified NCL genes and wide phenotypic variability render diagnosis difficult. A new NCL classification system based on the affected gene and the age at disease onset allows a precise and practical delineation of an individual patient's NCL type. A diagnostic algorithm to identify each NCL form is presented here. Precise NCL diagnosis is essential not only for genetic counseling, but also for the optimal delivery of care and information sharing with the family and other caregivers. These aspects are challenging because there are also potential long term complications which are specific to NCL type. Therefore care supported by a specifically experienced team of clinicians is recommended. As the underlying pathophysiological mechanism is still unclear for all NCL forms, the development of curative therapies remains difficult. This article is part of a Special Issue entitled: The neuronal ceroid lipofuscinoses or Batten Disease.     

First electrocardiogram in recent myocardial infarction.

The admission electrocardiogram (ECG) was studied in 898 patients admitted to a coronary care unit over two years. The diagnosis made from this tracing was compared with that made at the end of the patient''s stay. About half the cases of recent myocardial infarct were diagnosed from the admission ECG, but accuracy rose to 83% with serial ECG''s in the unit. The ECG is important but not entirely reliable in the early detection of acute myocardial infarction, which should be largely a clinical diagnosis.     

The Goeckerman Regimen for the Treatment of Moderate to Severe Psoriasis

Psoriasis is a chronic, immune-mediated inflammatory skin disease affecting approximately 2-3% of the population. The Goeckerman regimen consists of exposure to ultraviolet B (UVB) light and application of crude coal tar (CCT). Goeckerman therapy is extremely effective and relatively safe for the treatment of psoriasis and for improving a patient''s quality of life. In the following article, we present our protocol for the Goeckerman therapy that is utilized specifically at the University of California, San Francisco. This protocol details the preparation of supplies, administration of phototherapy and application of topical tar. This protocol also describes how to assess the patient daily, monitor for adverse effects (including pruritus and burning), and adjust the treatment based on the patient''s response. Though it is one of the oldest therapies available for psoriasis, there is an absence of any published videos demonstrating the process in detail. The video is beneficial for healthcare providers who want to administer the therapy, for trainees who want to learn more about the process, and for prospective patients who want to undergo treatment for their cutaneous disease.     

感染性和非感染性发热的临床特征与鉴别

目的分析感染性和非感染性发热的鉴别诊断。方法收集1997年1月。2003年3月收住的以发热为主要临床表现的患者706例,进行回顾性分析。结果感染性疾病550例（81．12％）,其中局灶感染203例（29．94％）,多系统性感染347（51．18％）。非感染性疾病107例（15．78％）。结论感染性和非感染性发热的鉴别诊断在于鉴别诊断思路的完整性,综合衡量是诊断的方法。     

Identification and characterization of the carboxy-terminal region of Sip-1, a novel autoantigen in Behçet's disease

Given the lack of a serological test specific for Behçet's disease, its diagnosis rests upon clinical criteria. The clinical diagnosis is nevertheless difficult because the disease manifestations vary widely, especially at the onset of disease. The aim of this study was to identify molecules specifically recognized by serum autoantibodies in patients with Behçet's disease and to evaluate their diagnostic value. We screened a cDNA library from human microvascular endothelial cells with serum IgG from two patients with Behçet's disease and isolated a reactive clone specific to the carboxy-terminal subunit of Sip1 (Sip1 C-ter). Using ELISA, we measured IgG, IgM and IgA specific to Sip1 C-ter in patients with various autoimmune diseases characterized by the presence of serum anti-endothelial cell antibodies, such as Behçet's disease, systemic lupus erythematosus, systemic sclerosis and various forms of primary vasculitis, as well as in patients with diseases that share clinical features with Behçet's disease, such as inflammatory bowel disease and uveitis. IgM immunoreactivity to Sip1 C-ter was significantly higher in patients with Behçet's disease and in patients with primary vasculitis than in the other groups of patients and healthy subjects tested (P < 10^-4 by Mann-Whitney test). ELISA detected IgG specific to Sip1 C-ter in sera from 11/56 (20%) patients with Behçet's disease, IgM in 23/56 (41%) and IgA in 9/54 (17%). No sera from patients with systemic lupus erythematosus, systemic sclerosis, inflammatory bowel disease, uveitis or healthy subjects but 45% of sera from patients with primary vasculitis contained IgM specific to Sip1 C-ter. Serum levels of soluble E-selectin, a marker of endothelial activation and inflammation, correlated with levels of serum IgM anti Sip-1 C-ter in patients with Behçet's disease (r = 0.36, P = 0.023). In conclusion, Sip1 C-ter is a novel autoantigen in Behçet's disease. IgM specific to Sip1 C-ter might be useful in clinical practice as an immunological marker of endothelial dysfunction in vasculitis.