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The moving target of progressive pulmonary fibrosis: insights for future clinical trials.
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Division of Pulmonary and Critical Care Medicine, University of Michigan, Ann Arbor, MI, USA.
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Introduction: Hereditary leukonychia is a rare genetic nail disorder characterized by whitening of the nail plate, which is sometimes due to mutations in the () gene. While leukonychia is typically asymptomatic, it carries significant psychosocial burden, and patients often report that others comment that they look like they are wearing nail polish. There are no known treatment options.
View Article and Find Full Text PDFResponse to the Comment on "Text-to-Video Models and Sora in Plastic Surgery: Pearls, Pitfalls, and Prospectives".
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Department of Plastic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan 1#, Dongcheng District, Beijing, 100730, People's Republic of China.
The objective of this paper is to respond to the comment regarding "Text-to-Video Models and Sora in Plastic Surgery: Pearls, Pitfalls, and Prospectives" and to provide further explanation on the opinions discussed therein. The emergence of text-to-video models, like Sora, allows us to see more vivid examples of artificial intelligence applied to life. The development of new technologies, like text-to-video models, needs to be recognized, questioned, regulated, and upgraded.
View Article and Find Full Text PDFBiallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
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Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13related diseases remains unclear. We report 10 additional affected individuals from nine independent families, identifying four missense variants (including recurrent c.
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