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排序方式: 共有887条查询结果,搜索用时 15 毫秒
881.
Goldenberg DC Bastos EO Alonso N Friedhofer H Ferreira MC 《Annals of plastic surgery》2008,61(1):47-51
Telecanthus, the lateral displacement of the medial canthus, can be a congenital deformity or can occur after facial trauma or tumor resection. Treatment of telecanthus remains a challenge for plastic surgeons. For proper correction, it is necessary to shift the medial canthus medially, fixing its tendon to the bone. The ideal technique would allow easy, safe, and stable fixation of the tendon, permit a unilateral approach with minimal incisions, and be cost-effective. The purpose of this study was to evaluate the feasibility and results (immediate and long-term) of medial telecanthus repair using ipsilateral titanium microanchor fixation. Nine patients, 7 with unilateral telecanthus and 2 with bilateral telecanthus, underwent ipsilateral canthopexy involving a microanchor device. Anthropometric measurements of the orbital regions were taken before, immediately after, and at 1 year after surgery. Data for the affected sides were compared with those for the unaffected sides, and the evolution of those values was assessed throughout the 1-year follow-up period. For all patients, the final values were lower than those initially obtained. At 1 year after surgery, the intercanthal distance was reduced to age-adjusted normal values in all cases. On the operated side, stable improvement was observed in terms of the distance from the medial canthus to the midline, although some degree of recurrence was noted in most of the patients. The use of a microanchor system for medial canthopexy can be considered an easily performed and effective option for treating canthal dystopia, especially when an ipsilateral approach is preferred. 相似文献
882.
Shiffman D Rowland CM Sninsky JJ Devlin JJ 《Current opinion in molecular therapeutics》2006,8(6):493-499
Coronary heart disease (CHD) has a genetic component independent of traditional risk factors. However, the risk associated with individual genetic polymorphisms is likely modest, and therefore initial claims of associations with CHD require testing in other studies. We surveyed the literature for studies that retested polymorphisms previously reported to be associated with CHD, and found that these associations were reproduced for only 15 of the 172 polymorphisms considered. This review discusses how the modest risk associated with each individual polymorphism generates false-positive, as well as false-negative results. Common strategies to address these issues are described, including methods to aggregate risk estimates from several polymorphisms into a genetic risk score. 相似文献
883.
884.
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency
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May Christine V. Malicdan Bruria Ben‐Zeev Jennifer Guo Aviva Eliyahu Ben Pode‐Shakked Amir Dori Sravan Kakani Settara C. Chandrasekharappa Carlos R. Ferreira Natalia Shelestovich Dina Marek‐Yagel Hadass Pri‐Chen Ilan Blatt John E. Niederhuber Langping He Camilo Toro Robert W. Taylor John Deeken Tal Yardeni Douglas C. Wallace Yair Anikster 《Human mutation》2018,39(1):69-79
Primary coenzyme Q10 (CoQ10; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10, and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C‐methylation in the CoQ10 synthetic pathway, have not been implicated in human disease. Here, we report three female siblings of Iraqi‐Jewish descent, who had varying degrees of cerebellar ataxia, encephalopathy, generalized tonic‐clonic seizures, and cognitive disability. Whole‐exome and subsequent whole‐genome sequencing identified biallelic duplications in the COQ5 gene, leading to reduced levels of CoQ10 in peripheral white blood cells of all affected individuals and reduced CoQ10 levels in the only muscle tissue available from one affected proband. CoQ10 supplementation led to clinical improvement and increased the concentrations of CoQ10 in blood. This is the first report of primary CoQ10 deficiency caused by loss of function of COQ5, with delineation of the clinical, laboratory, histological, and molecular features, and insights regarding targeted treatment with CoQ10 supplementation. 相似文献
885.
The freeze-fracture technique was used to study the fine structure of native collagen from rat tendon and lung. The collagen filaments were organized into a spiraled lamellar substructure within each fibril. Small particles, representing the broken ends of the collagen filaments, were found in nearly straight rows when the lamellae were broken tranversely. Filamentous connections were shown which span the interfibrillar matrix and unite all of the fibrils into a reticular network. The fibrils were coated with material that was greatly hydrated in vivo. Sublimation occurred more rapidly from some portions of the coating substance than from others, resulting in a banding pattern with a 610 Å repeat distance. 相似文献
886.
Brunt Vienna E. Ikoba Akpevweoghene P. Ziemba Brian P. Ballak Dov B. Hoischen Alexander Dinarello Charles A. Ehringer Marissa A. Seals Douglas R. 《Age (Dordrecht, Netherlands)》2023,45(1):65-84
GeroScience - Aging is characterized by declines in physiological function that increase risk of age-associated diseases and limit healthspan, mediated in part by chronic low-grade inflammation.... 相似文献
887.
Boffano Paolo Cavarra Francesco Brucoli Matteo Ruslin Muhammad Forouzanfar Tymour Ridwan-Pramana Angela Rodríguez-Santamarta Tanía de Vicente Juan Carlos Starch-Jensen Thomas Pechalova Petia Pavlov Nikolai Doykova Iva Konstantinovic Vitomir S. Jezdić Zoran Barrabé Aude Louvrier Aurélien Meyer Christophe Snäll Johanna Hagström Jaana Dovšak Tadej Birk Anže Rocchetti Vincenzo 《Oral and maxillofacial surgery》2023,27(3):479-487
Oral and Maxillofacial Surgery - Odontoma is the most commonly diagnosed odontogenic tumor of the oral cavity. The objective of the present study was to assess the demographic variables, patterns,... 相似文献