Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: HUMANGGP:031673 (collagen)
 124,196 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Specimens from articular surfaces of normal human mandibular condyles are compared with very small biopsies from articular surfaces of condyles taken at conservative operations in severe pain-dysfunction syndrome (P.D.S.). Immediate fixation was followed by examination using transmission electron-micrography. Normal surfaces exhibit a nearly structureless layer about 2 micron thick, which corresponds with the lamina splendens described in other diarthrodial joints. This layer surmounts a dense main structure of wavy interlacing bundles of collagen interspersed with fibrocytes. Occasional straight elastic fibres were found. Surfaces of all condyles from P.D.S. patients showed loss of lamina splendens, alteration of collagen fibre size, and tendency to dissociation of both collagen and its surrounding ground substance. Depper levels showed aggregations of bizarre structures which the author terms "vermiform bodies", and which appear to be collections of abnormal amounts and types of elastic tissue. It is suggested that the appearances are those of stress elastosis. Such profound ultrastructural changes may affect the joint sliding properties, and also its mechanical integrity under stress. Examination at this degree of magnification suggests a direct relationship between long-standing pain-dysfunction syndrome and the onset of degenerative disease.
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PMID:Ultrastructure of the condylar articular surface in severe mandibular pain-dysfunction syndrome. 41 13

A case of a 46-year-old Japanese male having fibrosarcoma of bone is reported. The tumor developed in the proximal metaphysis of the left femur. During the three years following onset of the disease with symptoms of local pain and mass, the patient was operated on three times (curettage and bone graft, curettage and bone graft with Jwett's nail fixation and disarticulation). The tumor was found to be an intraosseous translucent lesion on x-ray examiation. Histologically, the tumor consisted of compact or loose, atypical spindle cells, producing abundant collagen-fibers without any osteoid, bony or cartilage formation. From the clinical and pathological findings, this case is thought to be a typical central fibrosarcoma of bone.
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PMID:Central fibrosarcoma of bone. Report of a case. 45 4

Two patients who have been on oral contraceptives for five and six years developed sinusoidal dilatation. Hepatic enlargement, tenderness and pain disappeared after the discontinuance of steroid drugs. Ultrastructural changes included dilatation of endoplasmic reticula with accumulation of granular electron dense material, disruption of mitochondrial membranes and deposits of collagen fibers in the intercellular spaces between hepatocytes and in the spaces of Disse. Possible relationship of this condition to peliosis hepatis and focal nodular hyperplasia are discussed.
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PMID:Hepatic sinusoidal dilatation related to oral contraceptives. A study of two patients showing ultrastructural changes. 50 27

Three young family members with recurrent arterial thrombosis underwent investigation for lipid or coagulation abnormalities. Lipoprotein electrophoresis, cholesterol, triglyceride levels, and routine coagulation studies were unremarkable. By contrast, testing of platelet function showed enhanced platelet aggregability to epinephrine and collagen in two of the subjects. In addition, release of 14C-serotonin by adenosine diphosphate and epinephrine was increased over control values in these same two patients. The third subject demonstrated decreased platelet aggregation and lowered 14C-serotonin release, but was symptomatic with rest pain at the time of testing. The ongoing in vivo thrombosis in the third subject may account for hypocoagulable platelets by in vitro testing. These abnormally sensitive platelets identified by platelet function testing may be associated with a familial "hypercoagulability" syndrome. Definition of the hemostatic abnormality in these individuals provided a rational basis for pharmacological therapy with antiplatelet drugs, which appeared to be successful.
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PMID:Platelet function abnormalities in a family with recurrent arterial thrombosis. 62 88

We studied four patients with posterior brawny scleritis. Two underwent enucleation for suspected melanoma, and in the other two, the correct diagnosis was made and effective therapy begun. Of seven other eyes with brawny scleritis from other sources, five were enucleated after diagnosis of choroidal melanoma and one for suspected intraocular tumor. This experience and other previous reports indicate the high incidence of diagnostic confusion regarding brawny scleritis. We therefore emphasized clinical symptoms and signs of brawny scleritis: inflammation, tenderness or pain of the globe, history of collagen vascular disease, proptosis, bilaterality, and retinal and choroidal detachment. A preserved normal choroidal vascular pattern over an elevated subretinal mass may be indicative of posterior brawny scleritis. Scleral biopsy is useful for tissue diagnosis. Radioactive phosphorus uptake tests and ultrasonography may erroneously indicate choroidal melanoma and lead to enucleation of a potentially salvageable globe.
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PMID:Clinical manifestations of brawny scleritis. 67 4

Surgical literature is replete with descriptions of Dupuytren's contracture and the various operations which surgeons have utilized to correct contractures of the palmar fascia. All that is worthy of presentation now are the unknown factors or frontiers of our knowledge. Etiology and control of major complications such as pain, joint stiffness, and recurrence are the frontiers which seem most intriguing to the author. The first step in scientific exploration of these areas is to form a hypothesis which takes into account all of the known factors. In this treatise, the author has stated a hypothesis for each of the frontiers. One hypothesis is that genetic predisposition for selective hyperkinetic collagen metabolism in the palm may be a biological counterpart to the condition found in transversalis fascia in patients with direct inguinal hernia. A hypothesis for pain syndromes is based upon general visceral afferent impulses striking a preconditioned central tract or sensitized central receptor. Joint stiffness has been attributed to the protracted release of polypeptides which change the electrical charge on crystalline protein and result in binding of water which then leads to secondary remodeling of joint structures. Recurrence or persistence of Dupuytren's contracture has been considered to be the result of a persistent inductive phenomenon by cells in the deepest layer of the dermis. Brief arguments supporting these hypotheses as being more tenable now than most others have been presented. For the most part such deductions have been based primarily upon the argument that no other hypothesis presently before us takes into account all of the available data or clinical observations, meager as they may be. Prejudice for surgical biology as a means of enlightenment, intuition, and, at times, empirical reasoning has been admitted in an attempt to stimulate imagination. The rest is left to the reader.
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PMID:Dupuytren's disease: controversial aspects of management. 76 47

Twenty-eight patients with chronic, incapacitating upper abdominal pain after cholecystectomy had excision of the common wall between the terminal bile duct and duct of Wirsung (ampullary septum). Twenty-two also had a sphincteroplasty: six had had this procedure previously. Pancreatic function studies, scintiscans, ultrasound and pancreatograms were non-diagnositic. Hyperamylasemia was an uncommon finding. Eight patients were found to have evidence of mild pancreatitis at exploration. There was gross scarring of the ampullary septum in 22 cases. Histologic examination revealed inflammation in 12 septa; the degree of fibrosis could not be assessed since 14 control septa from autopsy material free from biliary tract disease revealed a comparable degree of collagen and smooth muscle. There were no deaths, and minimal morbidity. In follow-up from seven to 59 months (mean = 26), 16 patients are relatively free of pain, five have occasional episodes which require non-narcotic analgesics, and seven have gained no relief from the operative procedure. A randomized controlled trial is recommended.
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PMID:Transampullary septectomy for post-cholecystectomy pain. 90 88

Two distinct lesions affect the articular cartilage of the patella. Surface degeneration occurs particularly on the odd facet; it is age dependent, often present in youth and it becomes more frequent with increasing age. It probably does not occasion patello-femoral pain in youth, but may predispose to degenerative arthritis in that joint in later years and is regarded as a consequence of habitual disuse. The term "basal degeneration" is used to describe a lesion in which there is a fasciculation of collagen in the middle and deep zones of cartilage without, at first, affecting the surface. It was found astride the ridge separating the medial from the odd facet in twenty-three adolescents who had complained of prolonged patello-femoral pain. They were treated by excision of the disc of affected cartilage, with relief of pain in most cases. The pathogenesis of basal degeneration is related to the functional anatomy of the patella.
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PMID:Patello-femoral joint mechanics and pathology. 2. Chondromalacia patellae. 95 44

The case history, clinical course and laboratory findings in a 66-year-old woman with fibrogenesis imperfecta ossium are reported, the sixth case in the literature. The condition is characterized clinically by intractable skeletal pain and progressive immobility. Though serum alkaline phosphatase has been raised in all patients, there are no specific haematological or biochemical findings. The radiological features of coarse and dense trabecular pattern with symmetrical and diffuse involvement of all bones without expansion or change of shape, together with periosteal reactions and soft tissue calcification are characteristic. The macroscopic appearance of bone shows large areas of opaque white and brittle trabeculae. The histological findings mimic those of osteomalacia unless examined under polarized light which shows the loss of normal birefringence. On electron microscopy the normal lamellar pattern made up of orientated collagen fibrils all about 80 nm diameter is replaced by a random tangled pattern of much thinner irregularly curved fibrils, some as thin as 5nm. The condition appears to be acquired, leading to erosion of the normal skeleton and replacement with an abnormal fibre deficient matrix. There is no definitive therapy at present.
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PMID:Fibrogenesis imperfecta ossium. 108 5

A survey of 118 patients seen in the last twenty years in Newcastle upon Tyne forms the basis of this report. All of these 118 patients fulfilled clearly defined clinical, electrophysiological and pathological criteria for the diagnosis of polymyositis: muscle pain, weakness and characteristic EMG and/or muscle biopsy 55%; and characteristic muscle biopsy 17%; muscle weakness and characteristic EMG 7%; muscle weakness and pain, and raised serum CK activity in an established collagen-vascular disease 5%. A smaller group of 25 patients were selected in whom the clinical characteristics, EMG, muscle biopsy and serum enzyme levels were all completely diagnostic of polymyositis. The patients were followed for two months to twenty-six years, with a mean follow-up duration of six years. Analysis was made of the features at presentation and during the course of the illness, and of prognostic factors bearing upon the disability, response to treatment and mortality. Cases were classified according to the system of Rose and Walton (1966). Groups I, II, and III each constituted approximately one-third of the total cases, while only 8% of all cases were associated with carcinoma. The female to male ratio was 1.4:1. Though cases were seen in all age groups, the largest number was in the sixth decade. The sedimentation rate was raised in 55% of cases. Electromyography was characteristic of polymyositis in 45% of cases, and in only 11% was it normal. The serum creatine kinase activity was raised in 64% of cases. There was no correlation between the extent of these abnormalities and the degree of weakness or disability. 65% of muscle biopsies had changes with inflammatory infiltration virtually diagnostic of polymyositis. 17% of cases had a normal muscle biopsy. Most of the patients (89%) were treated with high-dose prednisone therapy, commencing with 30-100 mg/day, gradually reducing to a maintenance dose of 5-15 mg/day over two or three months. All clinical groups showed considerable improvement in average disability with time on "high dose" corticosteroid therapy, the maximum improvement occurring within the first three years. The degree of improvement in disability was considerably less in those inadequately treated, though the mortality rate was similar in the two groups. 66% of all survivors had essentially no functional disability at follow-up three or more years later, and in the majority of these cases the disease appeared to have burned itself out. 33% of cases had significant disability after three years, and in half of these the disease appeared to be still active.
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PMID:Polymyositis: its presentation, morbidity and mortality. 121 71


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