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The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on 256 mitochondrial disease genes from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition.
More than 150 inspired—and inspiring—novelists, poets, playwrights, painters, philosophers, scientists, and mathematicians on how they subtly maneuver the many (self-inflicted) obstacles and (self-imposed) daily rituals to get done the work they love to do. Franz Kafka, frustrated with his living quarters and day job, wrote in a letter to Felice Bauer in 1912, “time is short, my strength is limited, the office is a horror, the apartment is noisy, and if a pleasant, straightforward life is not possible then one must try to wriggle through by subtle maneuvers.” Kafka is one of 161 minds who describe their daily rituals to get their work done, whether by waking early or staying up late; whether by self-medicating with doughnuts or bathing, drinking vast quantities of coffee, or taking long daily walks. Thomas Wolfe wrote standing up in the kitchen, the top of the refrigerator as his desk, dreamily fondling his “male configurations”.... Jean-Paul Sartre chewed on Corydrane tablets (a mix of amphetamine and aspirin), ingesting ten times the recommended dose each day ... Descartes liked to linger in bed, his mind wandering in sleep through woods, gardens, and enchanted palaces where he experienced “every pleasure imaginable.” Here are: Anthony Trollope, who demanded of himself that each morning he write three thousand words (250 words every fifteen minutes for three hours) before going off to his job at the postal service, which he kept for thirty-three years during the writing of more than two dozen books ... Karl Marx ... Woody Allen ... Agatha Christie ... George Balanchine, who did most of his work while ironing ... Leo Tolstoy ... Charles Dickens ... Pablo Picasso ... George Gershwin, who, said his brother Ira, worked for twelve hours a day from late morning to midnight, composing at the piano in pajamas, bathrobe, and slippers.... Here also are the daily rituals of Charles Darwin, Andy Warhol, John Updike, Twyla Tharp, Benjamin Franklin, William Faulkner, Jane Austen, Anne Rice, and Igor Stravinsky (he was never able to compose unless he was sure no one could hear him and, when blocked, stood on his head to “clear the brain”).
Philadelphia Neighborhoods, a compendium of historic views of the major residential sections of Philadelphia, presents a snapshot into the past when old neighborhoods were not so old and when currently established ones were as yet new construction. Through the medium of postcards, readers are invited back to an era before automobiles dominated the streets, before many city roads were paved, and when the local grocery store was not located in a mall. Using chapters divided into subsections that detail the various regions of North, South, Southwest, and West Philadelphia, as well as the "new" Northeast Philadelphia, the author chronicles the vibrant, diverse communities that have helped shape the city's rich history.
A huge assortment of open salt cellars, with in-depth coverage of examples made with art glass, cameo glass, figural French faence, Russian enamels, porcelain, figural silver, and more. Illustrates over 3,500 salts from manufacturers such as Steuben, Tiffany, Pairpoint, Moser, Royal Bayreuth, Daum Nancy, and Wedgwood. Captions provide dimensions, production dates, marks, values, and rarity information. A must-have reference for collectors.
A comprehensive study of jazz great Charlie Parker, including details of record dates, more than 200 musical illustrations, and biographical material arranged chronologically and linked with Parker's recordings. The "Bird Stories" are all here, from Parker's Kansas City roots to his untimely death, as well as the seminal journal article on Parker's music, "Ornithology" that appeared in the Journal of Jazz Studies.
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Now celebrating its 50 years in print, this text has held onto the foundation of its great success, while also being re-invented for today’s audience. The focus of this text remains the practical instruction of functional anatomy in order to quickly, and convincingly, guide readers to its use in professional performance. This text is filled with modern applications that will show your students the relevance of foundational material to their future careers.