Dupuytren's disease: history, diagnosis, and treatment

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Describe the clinical features of the disease. 2. Describe the pathoanatomical structures in Dupuytren's disease. 3. Outline the various factors associated with Dupuytren's disease. 4. Describe the modalities for surgical and nonsurgical treatment of the condition. 5. Outline recent biomolecular knowledge about the basis of Dupuytren's disease. SUMMARY: Dupuytren's disease is characterized by nodule formation and contracture of the palmar fascia, resulting in flexion deformity of the fingers and loss of hand function. The authors review the historical background, clinical features, and current therapy of Dupuytren's disease; preview treatment innovations; and present molecular data related to Dupuytren's disease. These new findings may improve screening for Dupuytren's disease and provide a better understanding of the disease's pathogenesis.     

Recognition, diagnosis, and management of Wilson's disease

Wilson's disease is a relatively rare inherited disorder of copper accumulation and toxicity, caused by a defect in an enzyme that is part of the pathway of biliary excretion of excess copper. Clinically, patients usually present as older children or young adults with hepatic, neurologic, or psychiatric manifestations, or some combination of these. Wilson's disease is unusual among genetic diseases in that it can be very effectively treated. The prevention of severe permanent damage depends upon early recognition and diagnosis by the physician, followed by appropriate anticopper treatment. Anticopper treatments have evolved considerably since the days when the only drug available was penicillamine. Zinc is now the recommended therapy for long-term management of the disease.     

Contested boundaries: psychiatry, disease, and diagnosis

Since the 19th century, we have come to think of disease in terms of specific entities--entities defined and legitimated in terms of characteristic somatic mechanisms. Since the last third of that century, we have expanded would-be disease categories to include an ever-broader variety of emotional pain, idiosyncrasy, and culturally unsettling behaviors. Psychiatry has been the residuary legatee of these developments, developments that have always been contested at the ever-shifting boundary between disease and deviance, feeling and symptom, the random and the determined, the stigmatized and the value-free. Even in our era of reductionist hopes, psychopharmaceutical practice, and corporate strategies, the legitimacy of many putative disease categories will remain contested. The use of the specific disease entity model will always be a reductionist means to achieve necessarily holistic ends, both in terms of cultural norms and the needs of suffering individuals. Bureaucratic rigidities and stakeholder conflicts structure and intensify such boundary conflicts, as do the interests and activism of an interested lay public.     

Celiac disease: risk assessment, diagnosis, and monitoring

Celiac disease is an autoimmune disorder occurring in genetically susceptible individuals, triggered by gluten and related prolamins. Well identified haplotypes in the human leukocyte antigen (HLA) class II region (either DQ2 [DQA*0501-DQB*0201] or DQ8 [DQA*0301-DQB1*0302]) confer a large part of the genetic susceptibility to celiac disease.Celiac disease originates as a result of a combined action involving both adaptive and innate immunity. The adaptive immune response to gluten has been well described, with the identification of specific peptide sequences demonstrating HLA-DQ2 or -DQ8 restrictive binding motifs across various gluten proteins. As for innate immunity, through specific natural killer receptors expressed on their surface, intra-epithelial lymphocytes recognize nonclassical major histocompatibility complex (MHC)-I molecules such as MICA, which are induced on the surface of enterocytes by stress and inflammation, and this interaction leads to their activation to become lymphokine-activated killing cells. Four possible presentations of celiac disease are recognized: (i) typical, characterized mostly by gastrointestinal signs and symptoms; (ii) atypical or extraintestinal, where gastrointestinal signs/symptoms are minimal or absent and a number of other manifestations are present; (iii) silent, where the small intestinal mucosa is damaged and celiac disease autoimmunity can be detected by serology, but there are no symptoms; and, finally, (iv) latent, where individuals possess genetic compatibility with celiac disease and may also show positive autoimmune serology, that have a normal mucosa morphology and may or may not be symptomatic.The diagnosis of celiac disease still rests on the demonstration of changes in the histology of the small intestinal mucosa. The classic celiac lesion occurs in the proximal small intestine with histologic changes of villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytosis. Currently, serological screening tests are utilized primarily to identify those individuals in need of a diagnostic endoscopic biopsy. The serum levels of immunoglobulin (Ig)A anti-tissue transglutaminase (or TG2) are the first choice in screening for celiac disease, displaying the highest levels of sensitivity (up to 98%) and specificity (around 96%). Anti-endomysium antibodies-IgA (EMA), on the other hand, have close to 100% specificity and a sensitivity of greater than 90%. The interplay between gliadin peptides and TG2 is responsible for the generation of novel antigenic epitopes, the TG2-generated deamidated gliadin peptides. Such peptides represent much more celiac disease-specific epitopes than native peptides, and deamidated gliadin antibodies (DGP) have shown promising results as serological markers for celiac disease. Serology has also been employed in monitoring the response to a gluten-free diet.Despite the gluten-free diet being so effective, there is a growing demand for alternative treatment options. In the future, new forms of treatment may include the use of gluten-degrading enzymes to be ingested with meals, the development of alternative, gluten-free grains by genetic modification, the use of substrates regulating intestinal permeability to prevent gluten entry across the epithelium, and, finally, the availability of different forms of immunotherapy.     

Seizure disorders: Part 1. Classification and diagnosis

Objective and setting To understand risk-taking behavior and safety practices associated with urban in-line skating, 2,210 outdoor skaters were observed in Boston, Massachusetts. Methods Estimated age, sex, and use of helmets, wrist guards, and elbow and knee pads were recorded. Skaters were coded as beginner, average, or advanced, and skating locations were classified as street, sidewalk, or bicycle path. Results About 60% of skaters wore wrist guards, but only 5.7% wore helmets. Male skaters wore less protective equipment than female skaters and were more likely to skate on streets. Beginner and advanced skaters wore more protective gear than average skaters. Surprisingly, street skaters wore less protective gear than skaters on sidewalks or paths. Conclusions Renewed focus on the importance of wearing helmets is needed. Given the higher injury risks for male skaters, clinicians and public health experts need to target male skaters in prevention efforts. In addition, average and advanced skaters need to be convinced that although they have improved their skills, it is still important to wear protective gear.As recreational in-line skating grows in popularity, and skating becomes a more common mode of urban transportation,^1,2 injuries and deaths are expected to rise.^2,3 Most skating injuries are from forward falls on outstretched arms,⁴ without vehicle, bicycle, or other skater involvement. Most skating-related injuries are preventable if time is taken to learn the basics while skating on flat, smooth, and dry surfaces.^1,4,5 In addition, when falls do occur, regardless of skill level, injuries can be prevented or minimized by wearing appropriate protective gear.³ Although there are several reports about in-line skating injuries and on recommendations for protective gear, only 3 observational studies describe the use of protective equipment.^6,7,8 Consequently, we conducted an observational study to understand safety behavior of in-line skaters in Boston, Massachusetts.     

Post-transplant hepatic veno-occlusive disease: pathogenesis, diagnosis and treatment

Hepatic veno-occlusive disease (VOD) is one of the most important complications following hematopoietic stem cell transplantation (SCT) and is associated with a very high mortality when severe. This review addresses the pathogenesis and clinical features of VOD and outlines the role on endothelial cell injury and risk factors. The current status of research for both treatment and prevention are discussed.     

Medical diagnosis, management and treatment of Lesch Nyhan disease

The aim of this presentation is to inform about Lesch Nyhan Disease from the point of view of the affected boys and their families living with the condition from day to day and also to show the importance of research in treating and managing the disease (In Caring for Children with Lesch Nyhan Disease--A Guide for Parents and Professionals; McCarthy, G.T., Ed.; PUMPA and Chailey Heritage Clinical Services: East Sussex, UK, 2002).     

Neuroimaging Alzheimer's disease: early diagnosis, monitoring, and mechanism understanding

Neuroimaging offers a promising tool for the priority goals of current researches in Alzheimer's disease (AD) including early diagnosis, monitoring the progression of the disease and understanding the underlying mechanisms. The brain profiles of atrophy and hypometabolism associated with AD are well known and they can be used as support for early diagnosis, although the accuracy of each of these biomarkers on its own is not sufficient. An increasing number of studies highlights the relevance of disconnection processes in the development and progression of AD. The recent development of PET tracers such as the Pittsburg compound (PiB) allowing to visualize in vivo one of the neuropathological lesions characterizing AD (i.e. beta-amyloid depositions) offers a unique opportunity to better understand the mechanisms underlying this multifaceted disease.     

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most patients are asymptomatic when the duct is small. With a moderate-to-large duct, a characteristic continuous heart murmur (loudest in the left upper chest or infraclavicular area) is typical. The precordium may be hyperactive and peripheral pulses are bounding with a wide pulse pressure. Tachycardia, exertional dyspnoea, laboured breathing, fatigue or poor growth are common. Large shunts may lead to failure to thrive, recurrent infection of the upper respiratory tract and congestive heart failure. In the majority of cases of PAD there is no identifiable cause. Persistence of the duct is associated with chromosomal aberrations, asphyxia at birth, birth at high altitude and congenital rubella. Occasional cases are associated with specific genetic defects (trisomy 21 and 18, and the Rubinstein-Taybi and CHARGE syndromes). Familial occurrence of PAD is uncommon and the usual mechanism of inheritance is considered to be polygenic with a recurrence risk of 3%. Rare families with isolated PAD have been described in which the mode of inheritance appears to be dominant or recessive. Familial incidence of PAD has also been linked to Char syndrome, familial thoracic aortic aneurysm/dissection associated with patent arterial duct, and familial patent arterial duct and bicuspid aortic valve associated with hand abnormalities. Diagnosis is based on clinical examination and confirmed with transthoracic echocardiography. Assessment of ductal blood flow can be made using colour flow mapping and pulsed wave Doppler. Antenatal diagnosis is not possible, as PAD is a normal structure during antenatal life. Conditions with signs and symptoms of pulmonary overcirculation secondary to a left-to-right shunt must be excluded. Coronary, systemic and pulmonary arteriovenous fistula, peripheral pulmonary stenosis and ventricular septal defect with aortic regurgitation and collateral vessels must be differentiated from PAD on echocardiogram. In preterm infants with symptomatic heart failure secondary to PAD, treatment may be achieved by surgical ligation or with medical therapy blocking prostaglandin synthesis (indomethacin or ibuprofen). Transcatheter closure of the duct is usually indicated in older children. PAD in preterm and low birth weight infants is associated with significant co-morbidity and mortality due to haemodynamic instability. Asymptomatic patients with a small duct have a normal vital prognosis but have a lifetime risk of endocarditis. Patients with moderate-to-large ducts with significant haemodynamic alterations may develop irreversible changes to pulmonary vascularity and pulmonary hypertension.     

Classification, Convention and Logic

An attempt has been made to establish axiomatically the principles of biological classification. It is shown that if phylogenetic classification is based on the notion of dichotomous origin of new taxa implied in Hennig's theory of cladism then the outcome must be a hierarchy in the form of a dichotomous dendrogram. Since the rules of traditional classification do not lead to this type of phylogenetic tree it is concluded that the conventions of ordinary systematics do not permit the erection of a natural system.     

Canine prostatic disease: a review of anatomy, pathology, diagnosis, and treatment

Disease conditions affecting the canine prostate gland are encountered frequently in small animal practice. The most common conditions affecting the canine prostate include benign prostatic hyperplasia, prostatitis, prostatic cysts, and prostatic neoplasia. Clinical signs associated with each of these conditions often overlap; therefore, it is important to reach a definitive diagnosis prior to initiating treatment. This paper reviews the diseases associated with the prostate gland of the dog, their diagnosis, as well as current treatment options for management of these conditions. Emphasis is placed on proper diagnostic sampling of the prostate gland, its fluid, and interpretation of findings, as well as emerging medical options for treatment of canine prostatic disease.     

经颅超声诊断及鉴别诊断帕金森病

帕金森病(PD)早期临床表现不典型,如能早期诊断、积极治疗,有可能减缓病程进展.因此,早期明确诊断、积极治疗是非常必要的.经颅超声成像(TCS)是一种新的非侵入性超声成像技术,发现PD患者的黑质(SN)区回声增强,认为这些回声增强区的性质与SN区的铁含量增高有关(1).结合近几年国外对TCS检查在PD早期诊断及鉴别诊断中的应用、优点及局限性的研究做一综述.     

Evolution, Causal Biology, and Classification

Brundin, L. (Section of Entomology, Swedish Museum of Natural History, Stockholm, Sweden.) Evolution, causal biology, and classification. Zool. Scripta 1 (3–4): 107–120, 1972.–The pros and cons of different approaches to classification are discussed against the background of a critical survey of the leading principles of evolution and the methodological advices furnished by the nature of the evolutionary process for the attainment of an adequate reference system of causal biology. It is shown that such a system has to be a reconstruction of nature's own hierarchy. The reasons for the present disagreement between the Hennig school and the Simpson-Mayr school are discussed at some length, and it is stressed that the classificatory dilemma of the latter school is an unavoidable consequence of its quantitative approach and hence self-inflicted.