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81.
An additional case of congenital pulmonary stenosis without ventricular septal defect is described. Functional patency of the foramen ovale and tricuspid valvular disease with minor stenosis were associated anomalies. The patient lived to be 20 years of age and developed overt circulatory deficiency only during the last two and one-half years of his life. Clinical diagnostic difficulty resulted from evidence of intraventricular block simulating septal defect. 相似文献
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An isolated avulsion fracture of the lesser tuberosity is an uncommon injury. We present five cases in adolescent athletes which demonstrate the radiographic, ultrasound, and MR appearances of this injury. Clinically and radiologically, the diagnosis can be difficult. In a setting of trauma, careful review of the imaging studies can lead to early diagnosis and appropriate treatment. 相似文献
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S. Thunell P. Harper 《Scandinavian journal of clinical and laboratory investigation》2013,73(7):561-580
Deficiency of the fifth enzyme in haem synthesis, uroporphyrinogen decarboxylase (UPGD), may give rise to accumulation and excretion of poly-carboxylated porphyrins, as well as to clinical manifestations in the form of a phototoxic skin reaction and liver engagement leading to cirrhosis and hepatocellular cancer. The cutaneous reaction, presenting as skin fragility and blisters on areas exposed to sun-porphyria cutanea tarda (PCT)-develops only in individuals with a remaining hepatic UPGD activity less than 20% of normal. Experimental results and clinical observation give evidence that PCT is a multifactorial disease. In some individuals a 50% decrease in UPGD activity is a consequence of inheritance of an allele with a mutation in the gene programming for the enzyme, but in these gene carriers, as well as in the other patients with overt PCT, the activity of the hepatic enzyme is reduced below the critical level by the action of specific inhibitors. In the generation of the enzyme inhibitors, iron plays a central role by promoting the formation of reactive oxygen species, a process where a specific class of cytochrome enzymes; cytochrome P450 1A (CYP4501A), participates. The varying individual susceptibility to development of the disease can be discussed in terms of differences in a spectrum of factors that affect the availability of the free form of this element in the liver, or its pathogenic action. In the article the roles of chronic viral infection, alcohol abuse and exposition to polyhalogenated cyclic hydrocarbons are considered in the light of effects on the availability of iron in the liver. Some genetic prerequisites for susceptibility to PCT-inducing agents are included in a tentative model for the disease, i.e. mutations in the UPGD gene and in the HFE gene affected in haemochromatosis, as well as genetically steered inducibilities of the genes programming for CYP4501A and the rate-limiting enzyme in haem synthesis, 5-aminolevulinate synthase. With the pathogenic model as a basis the different therapeutic strategies that can be applied are discussed, and suggestions for a handling programme for the patient presenting with PCT put forward. 相似文献
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Intra-arterial tissue adhesive for medical splenectomy in humans 总被引:2,自引:0,他引:2
90.
H Khalili A Soudbakhsh M Hajiabdolbaghi S Dashti-Khavidaki A Poorzare AA Saeedi R Sharififar 《BMC infectious diseases》2008,8(1):165