B. Tomeno (Professeur des universités, praticien hospitalier)
{"title":"Biopsie pour tumeurs des os","authors":"B. Tomeno (Professeur des universités, praticien hospitalier)","doi":"10.1016/j.emcrho.2004.05.001","DOIUrl":"10.1016/j.emcrho.2004.05.001","url":null,"abstract":"<div><p>Because it consists in only a partial sampling of a lesion which is frequently polymorphic, biopsy of a bone tumor includes a risk for erroneous or inaccurate diagnosis. To minimize this risk it is necessary to perform large samplings (through the most limited approach, however), to provide the pathologist with all necessary clinical and radiological documents, to confront the biopsy results with the radio-clinical context; to realize biopsies as often as possible in specialized units, especially if there is any suspicion of malignancy. Surgical and percutaneous biopsies are complementary techniques, with each its own indications and limitations. The course of percutaneous biopsy must be precisely and indelibly located, always chosen according to the planed surgical treatment, what induces good intuition and knowledge of the tumoral pathology. In malignant tumors, the biopsy course should be excised as a single piece with the piece of resection; therefore, both biopsy and surgical treatment should preferentially be performed by the same medical team.</p></div>","PeriodicalId":100448,"journal":{"name":"EMC - Rhumatologie-Orthopédie","volume":"1 5","pages":"Pages 436-444"},"PeriodicalIF":0.0,"publicationDate":"2004-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcrho.2004.05.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74038518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Chalès (Professeur des Universités-praticien hospitalier) , P. Guggenbuhl (Praticien hospitalier) , B. Cador-Rousseau (Chef de clinique-assistant) , B. Grosbois (Professeur des Universités-praticien hospitalier)
{"title":"Histiocytoses héréditaires et sporadiques","authors":"G. Chalès (Professeur des Universités-praticien hospitalier) , P. Guggenbuhl (Praticien hospitalier) , B. Cador-Rousseau (Chef de clinique-assistant) , B. Grosbois (Professeur des Universités-praticien hospitalier)","doi":"10.1016/j.emcrho.2003.11.006","DOIUrl":"10.1016/j.emcrho.2003.11.006","url":null,"abstract":"<div><p>Gaucher’s disease is an autosomal recessive disorder due to a deficit in a lysosomal enzyme (beta-glucocerebrosidase) and is characterized by deposits of glucosylceramide in the cells of the liver (hepatomegaly), spleen (splenomegaly) and bone marrow (osseous destruction, hematologic abnormalities, articular manifestations), associated biochemical abnormalities (increase in angiotensin-converting enzyme, ferritin, tartrate-resistant acid phosphatase and chitotriosidase). Acute or chronic neurological forms (type 2 and 3) account for only 5 % of patients suffering from Gaucher’s disease and are less frequent than the non-neurological forms (type 1). Enzyme replacement therapy is currently available. Fabry’s disease is an inborn error of metabolism caused by the deficiency of α-galactosidase. The signs and symptoms are the result of lipid deposition in numerous cell types. The condition usually begins in childhood or adolescence with recurrent painful crises, angiokeratomas, and corneal dystrophy, then gastrointestinal, cardiac, renal and cerebrovascular problems occur in the fourth and fifth decades of life. Farber’s disease (or lipogranulomatosis) is a rare and progressive disorder of infancy and early childhood transmitted as an autosomal recessive characteristic and accompanied by hoarseness, painful and swollen joints, subcutaneous and pulmonary abnormalities. The disease is due to a deficiency of acid ceramidase activity that leads to an accumulation of ceramide in the kidneys, liver, lungs, and lymph nodes. The Niemann-Pick group of diseases can now be classified into two categories, those with a primary deficiency in acid sphingomyelinase activity (types A and B) and those with defective intra-cellular processing and transport of LDL (type C). Foam cell infiltration and visceromegaly are common features in all cases, whereas severe neurologic involvement occurs only in types A and C, and not in type B. Chester-Erdheim’s disease is an exceptional xanthogranulomatosis which comes within the scope of histiocytosis. Cardiac and pulmonary manifestations caused by liberation of cholesterol from foam cells and xanthomatous patches in the eyelids, chronic lipogranulomatous pyelonephritis, breast and muscle involvement have been reported. Mild local pain and tenderness over areas of skeletal abnormality are noted. Radiographic abnormalities are distinctive. Multicentric reticulohistiocytosis is a rare systemic disease of unknown aetiology, characterized by symmetric destructive polyarthritis and mucocutaneous eruptions in various locations. It may represent a paraneoplastic syndrome, and may associate with autoimmune diseases.</p></div>","PeriodicalId":100448,"journal":{"name":"EMC - Rhumatologie-Orthopédie","volume":"1 5","pages":"Pages 406-422"},"PeriodicalIF":0.0,"publicationDate":"2004-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcrho.2003.11.006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77113037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Chalès (Professeur des Universités, praticien hospitalier), P. Guggenbuhl (Praticien hospitalier)
{"title":"Mucopolysaccharidoses et oligosaccharidoses","authors":"G. Chalès (Professeur des Universités, praticien hospitalier), P. Guggenbuhl (Praticien hospitalier)","doi":"10.1016/j.emcrho.2004.04.005","DOIUrl":"10.1016/j.emcrho.2004.04.005","url":null,"abstract":"<div><p>The mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by a deficiency of specific lysosomal enzymes. The enzyme deficiency results in interference with cellular function because of excess accumulation within the cells of partially degraded glycosaminoglycans (GAG), which are also excreted in excess in the urine of affected patients. The ubiquitous nature of GAG within the connective tissue of the body results in a wide range of clinical effects. The type of GAG stored depends on the specific enzyme deficiency and classification of the disorders is now based upon these deficiencies, rather than clinical features. Currently, MPS is classified into various types (I to VII), and additional diseases (oligosaccharidoses) are recognized (GM1 gangliosidosis, mannosidosis, fucosidosis, aspartylglucosaminuria), some of which are mucolipidoses (sialidosis, I cell disease, pseudo-Hurler’s polydystrophy) which demonstrate similar clinical and radiologic findings. Common to the MPS types and the mucolipidoses are certain clinical and radiographic characteristics ; the radiographic abnormalities are designated dysostosis multiplex.</p></div>","PeriodicalId":100448,"journal":{"name":"EMC - Rhumatologie-Orthopédie","volume":"1 5","pages":"Pages 395-405"},"PeriodicalIF":0.0,"publicationDate":"2004-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcrho.2004.04.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85510207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Chalès (Professeur des Universités-praticien hospitalier), P. Guggenbuhl (Praticien hospitalier)
{"title":"Glycogénoses, hyperoxaluries, aminoacidopathies et hyperlipidémies","authors":"G. Chalès (Professeur des Universités-praticien hospitalier), P. Guggenbuhl (Praticien hospitalier)","doi":"10.1016/j.emcrho.2004.06.003","DOIUrl":"10.1016/j.emcrho.2004.06.003","url":null,"abstract":"<div><p>Glycogen storage diseases (GSDs) are inherited disorders that affect glycogen metabolism. The glycogen found in these disorders is abnormal in quantity, quality or both. Liver and muscle have abundant quantities of glycogen and are the most commonly and seriously affected tissues. Because carbohydrate metabolism in the liver is responsible for plasma glucose homeostasis, GSDs that affect mainly the liver usually present as a hepatomegaly and a hypoglycaemia. In contrast, the role of glycogen in muscle is to provide substrates for the generation of ATP for muscle contraction. The predominant clinical features of muscular GSD are muscle cramps, exercise intolerance, susceptibility to fatigue, and progressive weakness. Hyperoxaluria or primary oxalosis is an autosomal recessive disease divided into two forms : type 1, caused by the absence of glyoxylate aminotransferase activity, and type 2 caused by a defect in D-glycerate dehydrogenase/gloxylate reductase. The overproduction of oxalate that is related to these enzyme defect is accompanied by its accumulation in various tissues. Damage to the kidneys, presenting as calcium oxalate nephrolithiasis and nephrocalcinosis, induces progressive renal failure and uraemia treatable by hemodialysis and renal transplantation. Phenylalanine hydroxylase (PAH) deficiency results in an intolerance to dietary intakes of the essential aminoacid phenylalanine and produces a spectrum of disorders including phenylketonuria and non PKU hyperphenylalaninemia. Tyrosinemia encompasses several entities, of which tyrosinemia type 1 (or hepatorenal tyrosinemia) results in the pathological manifestations involving mainly the liver, kidney and peripheral nerves. Classical homocystinuria is an inherited metabolic disorder that arises from defects in either the re-methylation or transsulphuration pathways of homocystein metabolism and leads to skeletal abnormalities, mental retardation and a high risk of vascular disease. Cystinosis is a rare autosomal recessive disorder characterized by the widespread of deposition of cystine crystals in body tissues, particularly in the kidney that results in renal insufficiency treatable by renal transplantation and cysteamine. Familial hypercholesterolemia is characterized by elevated serum cholesterol, tendon xanthomas, xanthelasmas, arcus corneae and premature atherosclerosis. Rheumatological manifestations include acute episodes of polyarthritis and tendinitis. Patients who are homozygous for familial hypercholesterolemia have cardiovascular and rheumatological manifestations more frequently and at earlier age than patients who are heterozygous. Potential myopathy and hepatotoxicity have long been acknowledged as uncommon adverse effects with statins.</p></div>","PeriodicalId":100448,"journal":{"name":"EMC - Rhumatologie-Orthopédie","volume":"1 5","pages":"Pages 423-435"},"PeriodicalIF":0.0,"publicationDate":"2004-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcrho.2004.06.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81591703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Biga (Professeur des Universités, praticien hospitalier) , R. Beccari (Chef de clinique des Universités, assistant des Hôpitaux) , J. Simonet (Praticien hospitalier)
{"title":"Arthrose de la cheville et de la sous-talienne","authors":"N. Biga (Professeur des Universités, praticien hospitalier) , R. Beccari (Chef de clinique des Universités, assistant des Hôpitaux) , J. Simonet (Praticien hospitalier)","doi":"10.1016/j.emcrho.2004.04.007","DOIUrl":"10.1016/j.emcrho.2004.04.007","url":null,"abstract":"<div><p>Most of the time, tibiotalar osteoarthritis and subtalar osteoarthritis are post traumatic. Ankle osteoarthritis is usually well tolerated except after surgical malleolar misalignment, causing misrotation of talus and articular incongruency. Arthrodesis is considered the standard treatment for end-stage post-traumatic osteoarthritis of the ankle, with good results provided special attention has been paid to good per operative adjustment, and provided the technique has been adapted to the anatomic lesion, more particularly to a potential need for extension to posterior subtalar joint, supposed to be the major point of pre-operative diagnosis. The ankle arthroplastic surgery (third generation) is promising but it needs to be validated by the analysis of surgical series with an important follow-up concerning components fixation. Isolated subtalar osteoarthritis needs subtalar arthrodesis after careful analysis of the local anatomic changes and the impact on the whole foot, in order to adapt the technique.</p></div>","PeriodicalId":100448,"journal":{"name":"EMC - Rhumatologie-Orthopédie","volume":"1 4","pages":"Pages 343-353"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcrho.2004.04.007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76154111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lombalgies communes : handicaps et techniques d'évaluation, incidences socioéconomiques","authors":"S. Poiraudeau, F. Rannou, M. Revel","doi":"10.1016/j.emcrho.2004.04.004","DOIUrl":"10.1016/j.emcrho.2004.04.004","url":null,"abstract":"<div><p>Low back pain is a benign disease with, however, major impact both for the concerned individual and in terms of health economy. Many evaluation tools have been built up and validated to assess such repercussion. The socio-economic impact of common low back pain is considerable, with induced costs similar to those of depression, coronary heart disease, diabetes, and migraine. Inadequate compliance with the therapeutic guidelines for the management of acute and chronic lumbagos may induce related cost overruns.</p></div>","PeriodicalId":100448,"journal":{"name":"EMC - Rhumatologie-Orthopédie","volume":"1 4","pages":"Pages 320-327"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcrho.2004.04.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78848467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
P. Vergne-Salle (Maître de conférence des Universités, praticien hospitalier) , R.-M. Grilo (Chef de clinique-assistant) , P. Bertin (Professeur des Universités, praticien hospitalier) , C. Bonnet (Praticien hospitalier) , D. Coyral (Chef de clinique-assistant) , S. Perrot (Praticien hospitalier) , R. Trèves (Professeur des Universités, praticien hospitalier)
{"title":"Douleurs en rhumatologie, aspects physiopathologiques, moyens d'évaluation, moyens thérapeutiques","authors":"P. Vergne-Salle (Maître de conférence des Universités, praticien hospitalier) , R.-M. Grilo (Chef de clinique-assistant) , P. Bertin (Professeur des Universités, praticien hospitalier) , C. Bonnet (Praticien hospitalier) , D. Coyral (Chef de clinique-assistant) , S. Perrot (Praticien hospitalier) , R. Trèves (Professeur des Universités, praticien hospitalier)","doi":"10.1016/j.emcrho.2004.04.002","DOIUrl":"10.1016/j.emcrho.2004.04.002","url":null,"abstract":"<div><p>Pain represents the most frequent reason for visiting a rhumatologist; over a half of chronic pains affect the muscular-skeletal apparatus. Conventionally, two physiopathological mechanisms are considered: pain due to excessive nociception (abnormal stimulation of peripheral nociceptors despite normal nervous system), and neuropathic pain (a lesion of the nervous system that generates painful sensations). This dichotomy doesn’t always reflect reality, and many pains are due to both (composite) mechanisms, especially in rhumatology. The first step of the medical management is to undertake complete assessment of a subjective symptom. In acute pains, the evaluation is based on standard general scales (visual analogue scale, verbal and numerical scales) that should be repeated for rapid adaptation of the treatment. In chronic pains, should they be a symptom of chronic disease or an autonomous pain, the assessment is complex, multidimensional, involving not only sensory-discriminative components, but also affective and emotional, cognitive, and behavioural components, and the familial and socio-professional context. Therapeutic management is based on the treatment of aetiological factors when possible, and also on symptomatic pain treatment: antalgesic agents, co-analgesic drugs, and non-pharmacological therapies. Antalgesic drugs are convenient for pains due to excessive nociception, where as most neuropathic or composite pains need combination with co-analgesics, what underlines that awareness of the neuropathic component is of utmost importance. In chronic pain, combination of drug therapy, non-pharmacological treatment and psychiatric management is often necessary. Rather than performing an overview of the whole rhumatologic therapy, this chapter intend to approach the pathophysiological mechanisms of pain, to highlight the importance of adequate assessment, to consider the symptomatic treatment of severe or persistent pain according to practical guidelines for antalgesic prescription, and finally to underline the importance of neuropathic pains in rhumatology, along with their specific management.</p></div>","PeriodicalId":100448,"journal":{"name":"EMC - Rhumatologie-Orthopédie","volume":"1 4","pages":"Pages 266-294"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcrho.2004.04.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88066984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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