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We described four offspring of a consanguineous couple with arterial tortuosity “syndrome” (ATS). The affected children had extensive arterial involvement although the clinical presentations were quite variable. Clinical manifestations included cutis laxa or soft/thin skin, joint laxity or contractures, and arachnodactyly. Aortic tortuosity and pulmonary artery aneurysms with or without peripheral stenoses were demonstrated in all four sibs. All three males had inguinal hernias. Inconsistent facial anomalies were downslanting palpebral tissues, beaked nose, micrognathia, and high-arched palate. Results of collagen type I and type III biosynthesis studies were normal on skin fibroblasts. Histologic findings on autopsy of one affected child showed arterial changes with disruption of elastic fibers of the media and fragmentation of the internal elastic membrane as well as mucosal and transmural necrosis of the stomach, small bowel, colon, and extensive necrosis of the liver. Coronary artery involvement was also seen in this child as well as biventricular hypertrophy. We conclude that ATS is an autosomal recessive connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints, and other organs. © 1996 Wiley-Liss, Inc.  相似文献   

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The incidence as well as the medical, social and economic importance of lung emphysema are evaluated. Results of experimental emphysema research, including the author's own investigations on rats are discussed. Inhalation of tobacco smoke is one of the most important etiologic factors. The pathogenetic role of endogenous enzymes, in particular protease-antiprotease imbalance, is elaborated. The survey is completed with the reference of prophylactic investigations and with an outlook on the main points of future research.  相似文献   

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Mixed results     
A discordant response indicates an increase in T-cells despite an increase in viral load, or vice versa. Researchers studying the use of either Ziagen (abacavir) or Crixivan with Combivir noted that the best predictor of discordant response was a high T-cell count when starting therapy. In 85 percent of 562 people in the study, there was a decrease in viral load and an increase in T-cells, while 13 percent experienced discordant responses with a decrease in viral load and a decrease in T-cell count.  相似文献   

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A new mechanism is proposed for the hydrolytic lactam polymerization. During reversible lactam addition to groups a considerable amount of amidines (ω-amidinocarboxylic acids) is formed in addition to the polymeric homologous series. The amount of these ω-amidinocarboxylic acids, can be determined quantitatively. They can participate in different reactions during the lactam polymerization leading to disproportionation of the amidino and carboxyl groups at a high rate, and to initiation. The proposed mechanism is valid for ε-caprolactam and octanelactam.  相似文献   

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