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991.
Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family 总被引:4,自引:0,他引:4
M Di Rocco E Reboa A Barabino A Larnaout M Canepa C Savioli M Cremonte C Borrone 《American journal of medical genetics》1990,37(2):237-240
We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed. 相似文献
992.
Anthea Rowlerson Francesco Mascarello Giuseppe Radaelli Alba Veggetti 《Journal of muscle research and cell motility》1995,16(3):223-236
Summary Post-hatching growth of lateral muscle in a teleost fish, Sparus aurata (L) was studied morphometrically to identify and quantify muscle fibre hyperplasia and hypertrophy, and by in vivo nuclear labelling with 5-bromo-deoxyuridine to identify areas of myoblast proliferation. Muscle fibre types were identified principally by myosin ATPase histochemistry and immunostaining, and labelled nuclei were identified at light and electronmicroscope level by immunostaining with a specific monoclonal antibody. Hyperplastic growth was slow at hatching, but then increased to a maximum at the mid-point of larval life. Larval hyperplastic growth occured by apposition of new fibres along proliferation zones, principally just under the lateral line and in the apical regions of the myotome, but also just under the superficial monolayer at intermediate positions. The first of these zones gave rise to slow and pink muscle fibres, in a process which continued through into postlarval life. The other zones added new fibres to the fast-white muscle layer in a process which was exhausted by the end of larval life. Post-larvally, between 60 and 90 days posthatching, a new hyperplastic process started in the fast-white muscle as nuclei proliferated and new muscle fibres were formed throughout the whole layer. This process resulted in a several-fold increase in the number of fast-white fibres over a few weeks, and then waned to very low levels in juveniles. Hyperplasia by apposition continued for some time postlarvally on the deep surface of the superficial monolayer, but at this stage gave rise to slow fibres only. Hypertrophic growth occurred at all ages, but was the dominant mechanism of muscle growth only in the juvenile and adult stages. Mechanisms giving rise to these different growth processes in fish muscle are discussed, and compared with muscle development in higher vertebrates. 相似文献
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Nardone G Rocco A Vaira D Staibano S Budillon A Tatangelo F Sciulli MG Perna F Salvatore G Di Benedetto M De Rosa G Patrignani P 《The Journal of pathology》2004,202(3):305-312
Helicobacter pylori up-regulates cyclo-oxygenase-2 (COX-2) expression, which in turn is involved in tumourigenesis. Recently, a causal link between COX-2 and multidrug resistance 1 (MDR-1) gene expression, implicated in cancer chemoresistance, has been demonstrated. Thus, the expression of COX-2 and the downstream enzyme involved in PGE2 biosynthesis, microsomal PGE-synthase1 (mPGES1), was correlated with P-gp, the product of MDR-1, and the anti-apoptotic protein, Bcl-xL, in gastric biopsies from patients with H pylori infection and in patients with gastric cancer. In a retrospective analysis of endoscopic and pathology files, 40 H pylori-negative patients (Hp-), 50 H pylori-positive patients who responded to eradication therapy (Hp+R), 84 H pylori-positive patients who did not respond to eradication therapy (Hp+NR), and 30 patients with gastric cancer (18 intestinal and 12 diffuse types) were selected. COX-2, mPGES1, P-gp, and Bcl-xL were detected by immunohistochemistry. COX-2, mPGES1, P-gp, and Bcl-xL expression was undetectable in gastric mucosa from Hp- patients. By contrast, COX-2 and mPGES1 expression was detected in 42% and 44% of Hp+R patients, respectively, and in up to 66% (range 63-66%) of Hp+NR patients (p < 0.05). The expression of COX-2 and mPGES1 correlated significantly (p < 0.0001) with that of P-gp and Bcl-xL. High levels of COX-2, mPGES1, P-gp, and Bcl-xL expression were found in intestinal-type gastric cancer samples. In conclusion, H pylori-dependent induction of COX-2 and mPGES1 is associated with enhanced production of P-gp and Bcl-xL that may contribute to gastric tumourigenesis and resistance to therapy. 相似文献
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Lawrence G. Karlock Levi Berry Seth T. Craft Rocco Petrozzi Adam G. Grahn Michael L. Casteel 《The Journal of foot and ankle surgery》2017,56(6):1139-1142
Primary arthrodesis is a thoroughly studied treatment option for end-stage pathologic entities of the first metatarsophalangeal joint. It is a commonly accepted treatment of many pathologic conditions, including hallux rigidus, severe hallux valgus, hallux varus, and other conditions pertaining to the first ray. Numerous fixation techniques are available for this procedure. Fixation constructs range from simple crossing Kirschner wires to plate and screw fixation or, even, external fixation. We propose a simple and cost-effective fixation technique using an intramedullary Steinmann pin with crossing Kirschner wires. Similar fixation techniques have been described; however, minimal data are available regarding this type of fixation. We present a series of 64 first metatarsophalangeal joint fusion procedures performed on 60 patients using our technique. A retrospective review with attention to several clinical and radiographic parameters was performed. The mean follow-up time was 27 (range 6 to 56) months. This technique resulted in a fusion rate of 90.6% (58 of 64 procedures). Despite the use of a large intramedullary Steinmann pin across the interphalangeal joint (IPJ), only 6 of the 64 procedures (9%) resulted in hallux IPJ degeneration. Of these, only 3 (4.6%) were symptomatic and required therapeutic measures. This suggests that violation of the IPJ with this form of fixation contributes minimally to postoperative pathologic features and is a viable alternative to traditional Association for Osteosynthesis/Association for the Study of Internal Fixation techniques. 相似文献
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Marco Moschini Shahrokh F. Shariat Mohammad Abufaraj Francesco Soria Tobias Klatte Giovanni La Croce Agostino Mattei Rocco Damiano Andrea Salonia Francesco Montorsi Alberto Briganti Renzo Colombo Andrea Gallina 《Urologic oncology》2017,35(4):151.e17-151.e23