Surgical Treatment of Hip Arthritis: Reconstruction, Replacement, and Revision, by William J. Hozack, MD, is a state-of-the-art reference that addresses the challenging issues you face in this rapidly growing segment of orthopaedic practice. Inside, you’ll find top surgical management strategies for all types of hip arthroplasty presented by leaders from around the world, along with discussions of possible complications, risks and benefits to specific patient populations, and more. Best of all, this resource also offers access to a companion website where you will find the full text of the book, completely searchable. Includes online access to the full text at expertconsult.com for convenient anytime, anywhere reference. Presents state-of-the-art surgical management strategies for hip arthritis—from reconstruction to replacement to revision—by experts worldwide, for comprehensive guidance in one convenient resource. Offers current information on computer-assisted navigation techniques and minimally invasive techniques, to equip you with the latest surgical options. Provides extensive discussions of the management of a full range of complications to help you overcome the challenges you’ll face. Addresses the rationale for and management of revision surgery, given specific patient problems and intraoperative issues, enabling you to make the best informed surgical decisions. Presents more than 600 illustrations, including original line art, radiologic images, and full-color intraoperative photos, that show you exactly what to look for and how to proceed.
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· 2014
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· 1995
A memoir of the author's and his wife's experiences in the camps, and his in Israel's war of independence
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· 2019
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· 2020
Abstract: Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. Objective: In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype. Methods: Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families. Results: Clinical phenotype of the patients confirms the originally reported phenotype of a childhood-onset progressive cerebellar and pyramidal syndrome with optic atrophy and learning difficulties. Brain MRI showed periventricular white matter lesions with multiple cystic defects, suggesting leukoencephalopathy in both patients. One patient carried the previously described homozygous TACO1 variant (p.His158ProfsTer8) and haplotype analysis suggested that this variant is a rare founder mutation. The second patient from another family carried a homozygous novel frame shift variant (p.Cys85PhefsTer15). Conclusions: The identification of two Turkish families with similar characteristic clinical presentation and an additional homozygous nonsense mutation confirms that TACO1 is a human mitochondrial disease gene. Although most patients with this clinical presentation undergo next generation sequencing analysis, screening for selected founder mutations in the Turkish population based on the precise clinical presentation may reduce time and cost of finding the genetic diagnosis even in the era of massively parallel sequencing
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