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2400
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[ "Li", "-", "Fraumeni", "syndrome", "(", "LFS", ")", ")", "." ]
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2412
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2419
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2420
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2421
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2422
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2424
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2425
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2426
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2427
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2428
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2457
[ "96", "%", "were", "diagnosed", "at", "a", "specialized", "department", "." ]
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2458
[ "Other", "diagnoses", "coded", "as", "IBD", "mostly", "included", "microscopic", "colitis", ",", "irritable", "bowel", "syndrome", "and", "cancer", "." ]
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2459
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2460
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2461
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2462
[ "Design", "Retrospective", ",", "population", "-", "based", "cohort", "." ]
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2463
[ "Methods", "Patients", "diagnosed", "with", "AION", "from", "January", "1", ",", "1990", ",", "through", "December", "31", ",", "2016", ",", "while", "residing", "in", "Olmsted", "County", ",", "Minnesota", "." ]
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2464
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2465
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2466
[ "Results", "During", "the", "study", "period", ",", "102", "residents", "developed", "AION", "." ]
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2467
[ "The", "median", "age", "was", "65", "years", "(", "range", ",", "40", "-", "90", "years", ")", ",", "44", "(", "43.1", "%", ")", "were", "female", "." ]
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2468
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2469
[ "The", "annual", "incidence", "rate", "of", "pcsAION", "within", "2", "months", "of", "surgery", "(", "8.6", "per", "100,000", ")", "was", "not", "significantly", "greater", "than", "the", "annual", "incidence", "rate", "of", "sAION", "(", "6.9", "per", "100,000", ";", "P", "=", ".78", ")", "." ]
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2470
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2471
[ "Conclusion", "The", "incidence", "of", "AION", "is", "increased", "in", "the", "first", "year", "after", "cataract", "surgery", ",", "but", "not", "in", "the", "early", "(", "i.e.", ",", "2", "months", ")", "postoperative", "period", "." ]
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2472
[ "Talaromyces", "marneffei", "causes", "life", "-", "threatening", "opportunistic", "infections", ",", "mainly", "in", "Southeast", "Asia", "and", "South", "China", "." ]
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2473
[ "T.", "marneffei", "mainly", "infects", "patients", "with", "human", "immunodeficiency", "virus", "(", "HIV", ")", "but", "also", "infects", "individuals", "without", "known", "immunosuppression", "." ]
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2474
[ "Here", "we", "investigated", "the", "involvement", "of", "anti", "-", "IFN", "-", "γ", "autoantibodies", "in", "severe", "T.", "marneffei", "infections", "in", "HIV", "-", "negative", "patients", "." ]
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2475
[ "We", "enrolled", "58", "HIV", "-", "negative", "adults", "with", "severe", "T.", "marneffei", "infections", "who", "were", "otherwise", "healthy", "." ]
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2476
[ "We", "found", "a", "high", "prevalence", "of", "neutralizing", "anti", "-", "IFN", "-", "γ", "autoantibodies", "(", "94.8", "%", ")", "in", "this", "cohort", "." ]
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2477
[ "The", "presence", "of", "anti", "-", "IFN", "-", "γ", "autoantibodies", "was", "strongly", "associated", "with", "HLA", "-", "DRB1", "*", "16:02", "and", "-DQB1", "*", "05:02", "alleles", "in", "these", "patients", "." ]
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2478
[ "We", "demonstrated", "that", "adult", "-", "onset", "acquired", "immunodeficiency", "due", "to", "autoantibodies", "against", "IFN", "-", "γ", "is", "the", "major", "cause", "of", "severe", "T.", "marneffei", "infections", "in", "HIV", "-", "negative", "patients", "in", "regions", "where", "this", "fungus", "is", "endemic", "." ]
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2479
[ "The", "high", "prevalence", "of", "anti", "-", "IFN", "-", "γ", "autoantibody", "-", "associated", "HLA", "class", "II", "DRB1", "*", "16:02", "and", "DQB1", "*", "05:02", "alleles", "may", "account", "for", "severe", "T.", "marneffei", "infections", "in", "Southeast", "Asia", "." ]
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2480
[ "Our", "findings", "clarify", "the", "pathogenesis", "of", "T.", "marneffei", "infection", "and", "pave", "the", "way", "for", "developing", "novel", "treatments", "." ]
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2481
[ "Congenital", "hypothyroidism", "(", "CH", ")", "is", "a", "highly", "prevalent", "but", "treatable", "neonatal", "endocrine", "disorder", "." ]
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2482
[ "Thyroid", "dyshormonogenesis", "is", "the", "main", "cause", "of", "congenital", "hypothyroidism", "in", "Chinese", "CH", "patients", ",", "and", "DUOX2", "is", "the", "most", "frequent", "mutated", "gene", "involved", "in", "H2O2", "production", "." ]
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2483
[ "In", "humans", ",", "the", "primary", "sources", "for", "H2O2", "production", "are", "DUOX1", "and", "DUOX2", ",", "while", "in", "zebrafish", "there", "is", "only", "a", "single", "orthologue", "for", "DUOX1", "and", "DUOX2", "." ]
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2484
[ "In", "this", "study", ",", "duox", "mutant", "zebrafish", "were", "generated", "through", "knockdown", "duox", "by", "morpholino", "or", "knockout", "duox", "by", "CRISPR", "Cas9", "." ]
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2485
[ "The", "associated", "phenotypes", "were", "investigated", "and", "rescued", "by", "thyroxine", "(", "T4", ")", "treatment", "." ]
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2486
[ "Mutant", "zebrafish", "displayed", "hypothyroid", "phenotypes", "including", "growth", "retardation", ",", "goiter", "and", ",", "infertility", "." ]
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2487
[ "Homozygous", "mutants", "in", "adults", "also", "displayed", "extrathyroidal", "abnormal", "phenotypes", ",", "including", "lacking", "barbels", ",", "pigmentation", "defects", ",", "erythema", "in", "the", "opercular", "region", ",", "ragged", "fins", ",", "and", "delayed", "scales", "." ]
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2488
[ "All", "these", "abnormal", "phenotypes", "can", "be", "rescued", "by", "10", "nM", "T4", "treatment", "." ]
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2489
[ "Strikingly", ",", "the", "fertility", "of", "zebrafish", "was", "dependent", "on", "thyroid", "hormone", ";", "T4", "treatment", "should", "be", "continued", "and", "can", "not", "be", "stopped", "over", "2", "weeks", "in", "hypothyroid", "zebrafish", "in", "order", "to", "achieve", "fertility", "." ]
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2490
[ "Thyroid", "hormones", "played", "a", "role", "in", "the", "developing", "and", "maturing", "of", "reproductive", "cells", "." ]
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2491
[ "Our", "work", "indicated", "that", "duox", "mutant", "zebrafish", "may", "provide", "a", "model", "for", "human", "congenital", "hypothyroidism", "." ]
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2492
[ "Context", "Aggrecan", ",", "encoded", "by", "the", "ACAN", "gene", ",", "is", "the", "main", "proteoglycan", "component", "in", "the", "extracellular", "cartilage", "matrix", "." ]
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2493
[ "Heterozygous", "mutations", "in", "ACAN", "have", "been", "reported", "to", "cause", "idiopathic", "short", "stature", "." ]
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2494
[ "However", ",", "the", "prevalence", "of", "ACAN", "pathogenic", "variants", "in", "Chinese", "short", "stature", "patients", "and", "clinical", "phenotypes", "remain", "to", "be", "evaluated", "." ]
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2495
[ "Objective", "We", "sought", "to", "determine", "the", "prevalence", "of", "ACAN", "pathogenic", "variants", "among", "Chinese", "short", "stature", "children", "and", "characterize", "the", "phenotypic", "spectrum", "and", "their", "responses", "to", "growth", "hormone", "therapies", "." ]
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2496
[ "Patients", "and", "methods", "Over", "1000", "unrelated", "short", "stature", "patients", "ascertained", "across", "China", "were", "genetically", "evaluated", "by", "next", "-", "generation", "sequencing", "-", "based", "test", "." ]
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2497
[ "Result", "We", "identified", "10", "novel", "likely", "pathogenic", "variants", "and", "2", "recurrent", "pathogenic", "variants", "in", "this", "cohort", "." ]
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2498
[ "None", "of", "ACAN", "mutation", "carriers", "exhibited", "significant", "dysmorphic", "features", "or", "skeletal", "abnormities", "." ]
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2499
[ "The", "prevalence", "of", "ACAN", "defect", "is", "estimated", "to", "be", "1.2", "%", "in", "the", "whole", "cohort", ";", "it", "increased", "to", "14.3", "%", "among", "those", "with", "advanced", "bone", "age", "and", "to", "35.7", "%", "among", "those", "with", "both", "advanced", "bone", "age", "and", "family", "history", "of", "short", "stature", "." ]
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