Datasets:

ncats

/

EpiSet4NER-v2

like 0

Follow

National Center for Advancing Translational Sciences 6

[ "The", "diagnosis", "of", "CAH", "was", "confirmed", "by", "molecular", "analyses", "of", "the", "CYP21A2", "gene", "." ]

[ 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Birth", "data", "were", "calculated", "as", "standard", "deviation", "(", "SD", ")", "scores", "according", "to", "German", "reference", "values", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0 ]

[ "Results", "Weight", "and", "length", "in", "male", "CAH", "newborns", "(", "mean", "±", "SD", ")", "(", "3601±576", "g", ";", "52.4±2.85", "cm", ")", "were", "significantly", "higher", "than", "in", "female", "CAH", "newborns", "(", "3347±442", "g", ";", "51.2±2.55", "cm", ")", ",", "but", "male", "-", "female", "differences", "in", "the", "CAH", "cohort", "were", "lost", "when", "the", "data", "were", "converted", "into", "SD", "scores", "." ]

[ 0, 0, 0, 0, 0, 13, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 13, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 13, 0, 13, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "birth", "sizes", "of", "the", "CAH", "newborns", "did", "not", "differ", "from", "the", "reference", "group", "." ]

[ 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "birth", "sizes", "also", "did", "not", "differ", "between", "the", "different", "CAH", "genotypes", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0 ]

[ "Maternal", "age", ",", "mode", "of", "delivery", "and", "maternal", "parity", "had", "no", "influence", "on", "birth", "size", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Conclusion", "Our", "data", "show", "that", "prenatal", "hyperandrogenism", "does", "not", "affect", "fetal", "growth", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Clinical", "disorders", "known", "to", "affect", "inherited", "gamma", "-", "amino", "butyric", "acid", "(", "GABA", ")", "metabolism", "are", "autosomal", "recessively", "inherited", "succinic", "semialdehyde", "dehydrogenase", "and", "GABA", "-", "transaminase", "deficiency", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "clinical", "presentation", "of", "succinic", "semialdehyde", "dehydrogenase", "deficiency", "includes", "intellectual", "disability", ",", "ataxia", ",", "obsessive", "-", "compulsive", "disorder", "and", "epilepsy", "with", "a", "nonprogressive", "course", "in", "typical", "cases", ",", "although", "a", "progressive", "form", "in", "early", "childhood", "as", "well", "as", "deterioration", "in", "adulthood", "with", "worsening", "epilepsy", "are", "reported", "." ]

[ 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "GABA", "-", "transaminase", "deficiency", "is", "associated", "with", "a", "severe", "neonatal", "-", "infantile", "epileptic", "encephalopathy", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Purpose", "To", "describe", "the", "molecular", "epidemiology", "of", "nonsyndromic", "retinitis", "pigmentosa", "(", "RP", ")", "and", "Usher", "syndrome", "(", "US", ")", "in", "Italian", "patients", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 0, 0, 1, 2, 0, 3, 0, 0, 15, 0, 0 ]

[ "Methods", "A", "total", "of", "591", "probands", "(", "315", "with", "family", "history", "and", "276", "sporadics", ")", "were", "analyzed", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "For", "155", "of", "them", ",", "we", "performed", "a", "family", "segregation", "study", ",", "considering", "a", "total", "of", "382", "relatives", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Probands", "were", "analyzed", "by", "a", "customized", "multigene", "panel", "approach", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Sanger", "sequencing", "was", "used", "to", "validate", "all", "genetic", "variants", "and", "to", "perform", "family", "segregation", "studies", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Copy", "number", "variants", "of", "selected", "genes", "were", "analyzed", "by", "multiplex", "ligation", "-", "dependent", "probe", "amplification", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Four", "patients", "who", "tested", "negative", "to", "targeted", "next", "-", "generation", "sequencing", "analysis", "underwent", "clinical", "exome", "sequencing", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Results", "The", "mean", "diagnostic", "yield", "of", "molecular", "testing", "among", "patients", "with", "a", "family", "history", "of", "retinal", "disorders", "was", "55.2", "%", "while", "the", "diagnostic", "yield", "including", "sporadic", "cases", "was", "37.4", "%", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "We", "found", "468", "potentially", "pathogenic", "variants", ",", "147", "of", "which", "were", "unpublished", ",", "in", "308", "probands", "and", "66", "relatives", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Mean", "ages", "of", "onset", "of", "the", "different", "classes", "of", "RP", "were", "autosomal", "dominant", "RP", ",", "19.3", "±", "12.6", "years", ";", "autosomal", "recessive", "RP", ",", "23.2", "±", "16.6", "years", ";", "X", "-", "linked", "RP", ",", "13.9", "±", "9.9", "years", ";", "and", "Usher", "syndrome", ",", "18.9", "±", "9.5", "years", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0 ]

[ "We", "reported", "potential", "new", "genotype", "-", "phenotype", "correlations", "in", "three", "probands", ",", "two", "revealed", "by", "TruSight", "One", "testing", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "All", "three", "probands", "showed", "isolated", "RP", "caused", "by", "biallelic", "variants", "in", "genes", "usually", "associated", "with", "syndromes", "such", "as", "PERCHING", "and", "Senior", "-", "Loken", "or", "with", "retinal", "dystrophy", ",", "iris", "coloboma", ",", "and", "comedogenic", "acne", "syndrome", "." ]

[ 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Conclusions", "This", "is", "the", "largest", "molecular", "study", "of", "Italian", "patients", "with", "RP", "in", "the", "literature", ",", "thus", "reflecting", "the", "epidemiology", "of", "the", "disease", "in", "Italy", "with", "reasonable", "accuracy", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0 ]

[ "Nontuberculous", "mycobacterial", "(", "NTM", ")", "infections", "in", "humans", "have", "increased", "in", "prevalence", "in", "recent", "decades", "." ]

[ 1, 2, 0, 3, 0, 2, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0 ]

[ "Mycobacterium", "kansasii", "is", "one", "of", "the", "most", "prevalent", "human", "pathogenic", "NTM", "species", "worldwide", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 3, 0, 9, 0 ]

[ "Herein", ",", "we", "report", "the", "first", "isolation", "of", "M.", "kansasii", "from", "an", "indoor", "domestic", "cat", "in", "Japan", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0 ]

[ "Comparative", "genome", "sequence", "analysis", "of", "the", "feline", "isolate", "showed", "this", "pathogen", "is", "genetically", "identical", "to", "human", "pathogenic", "M.", "kansasii", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "This", "finding", "suggests", "that", "M.", "kansasii", "has", "a", "potential", "risk", "of", "zoonoses", "and", "requires", "the", "One", "Health", "approach", "to", "control", "NTM", "infection", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0 ]

[ "Hearing", "loss", "is", "highly", "prevalent", "and", "may", "significantly", "affect", "how", "we", "age", "." ]

[ 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Although", "the", "population", "is", "aging", ",", "relatively", "few", "adults", "receive", "treatment", "for", "hearing", "loss", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Internists", "are", "a", "critical", "partner", "to", "audiologists", "and", "otolaryngologists", "in", "caring", "for", "the", "adult", "population", "with", "hearing", "loss", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "This", "review", "provides", "a", "primer", "on", "diagnosing", "and", "managing", "hearing", "loss", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Q", "fever", "can", "present", "as", "a", "fever", "of", "unknown", "aetiology", "and", "can", "be", "challenging", "to", "diagnose", "because", "of", "the", "rare", "incidence", "." ]

[ 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0 ]

[ "It", "can", "present", "as", "an", "acute", "illness", "with", "manifestations", ",", "including", "influenza", "-", "like", "symptoms", ",", "hepatitis", ",", "pneumonia", "or", "chronic", "disease", "involving", "the", "cardiovascular", "system", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "We", "present", "a", "case", "of", "a", "39", "-", "year", "-", "old", "woman", "in", "the", "USA", ",", "who", "developed", "acute", "Q", "fever", "with", "associated", "sepsis", "and", "severe", "hepatitis", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 9, 0, 0, 0, 0, 1, 2, 0, 0, 1, 0, 1, 2, 0 ]

[ "She", "received", "treatment", "with", "recovery", "from", "acute", "infection", "but", "currently", "has", "symptoms", "of", "post", "Q", "fever", "syndrome", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0 ]

[ "Background", "Approximately", "70", "%", "of", "congenital", "deafness", "is", "attributable", "to", "genetic", "causes", "." ]

[ 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0 ]

[ "Incidence", "of", "congenital", "deafness", "is", "known", "to", "be", "higher", "in", "families", "with", "consanguineous", "marriage", "." ]

[ 5, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "In", "this", "study", ",", "we", "investigated", "the", "genetic", "causes", "in", "three", "consanguineous", "Pakistani", "families", "segregating", "with", "prelingual", ",", "severe", "-", "to", "-", "profound", "deafness", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Results", "Through", "targeted", "next", "-", "generation", "sequencing", "of", "414", "genes", "known", "to", "be", "associated", "with", "deafness", ",", "homozygous", "variants", "c.536del", "(", "p.", "Leu180Serfs∗20", ")", "in", "TECTA", ",", "c.3719", "G", ">", "A", "(", "p.", "Arg1240Gln", ")", "in", "MYO7A", ",", "and", "c.482", "+", "1986_1988del", "in", "HGF", "were", "identified", "as", "the", "pathogenic", "causes", "of", "enrolled", "families", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Interestingly", ",", "in", "one", "large", "consanguineous", "family", ",", "an", "additional", "c.706G", ">", "A", "(", "p.", "Glu236Lys", ")", "variant", "in", "the", "X", "-", "linked", "POU3F4", "gene", "was", "also", "identified", "in", "multiple", "affected", "family", "members", "causing", "deafness", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Genotype", "-", "phenotype", "cosegregation", "was", "confirmed", "in", "all", "participating", "family", "members", "by", "Sanger", "sequencing", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Conclusions", "Our", "results", "showed", "that", "the", "genetic", "causes", "of", "deafness", "are", "highly", "heterogeneous", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Even", "within", "a", "single", "family", ",", "the", "affected", "members", "with", "apparently", "indistinguishable", "clinical", "phenotypes", "may", "have", "different", "pathogenic", "variants", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Diseases", "of", "the", "retina", "are", "major", "causes", "of", "visual", "impairment", "and", "blindness", "in", "developed", "countries", "and", ",", "due", "to", "an", "ageing", "population", ",", "their", "prevalence", "is", "continually", "rising", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0 ]

[ "The", "lack", "of", "effective", "therapies", "and", "the", "limitations", "of", "those", "currently", "in", "use", "highlight", "the", "importance", "of", "continued", "research", "into", "the", "pathogenesis", "of", "these", "diseases", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Vascular", "endothelial", "growth", "factor", "(", "VEGF", ")", "plays", "a", "major", "role", "in", "driving", "vascular", "dysfunction", "in", "retinal", "disease", "and", "has", "therefore", "become", "a", "key", "therapeutic", "target", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Recent", "evidence", "also", "points", "to", "a", "potentially", "similarly", "important", "role", "of", "galectins", ",", "a", "family", "of", "β0", "-", "galactoside", "-", "binding", "proteins", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Indeed", ",", "they", "have", "been", "implicated", "in", "regulating", "fundamental", "processes", ",", "including", "vascular", "hyperpermeability", ",", "angiogenesis", ",", "neuroinflammation", ",", "and", "oxidative", "stress", ",", "all", "of", "which", "also", "play", "a", "prominent", "role", "in", "retinopathies", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Here", ",", "we", "review", "direct", "evidence", "for", "pathological", "roles", "of", "galectins", "in", "retinal", "disease", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "In", "addition", ",", "we", "extrapolate", "potential", "roles", "of", "galectins", "in", "the", "retina", "from", "evidence", "in", "cancer", ",", "immune", "and", "neuro", "-", "biology", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "We", "conclude", "that", "there", "is", "value", "in", "increasing", "understanding", "of", "galectin", "function", "in", "retinal", "biology", ",", "in", "particular", "in", "the", "context", "of", "the", "retinal", "vasculature", "and", "microglia", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "With", "greater", "insight", ",", "recent", "clinical", "developments", "of", "galectin", "-", "targeting", "drugs", "could", "potentially", "also", "be", "of", "benefit", "to", "the", "clinical", "management", "of", "many", "blinding", "diseases", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Introduction", "Classic", "bladder", "exstrophy", "(", "BE", ")", "is", "regarded", "as", "an", "isolated", "malformation", "without", "any", "further", "anomalies", ",", "but", "some", "studies", "have", "indicated", "a", "higher", "incidence", "of", "cardiac", "anomalies", "." ]

[ 0, 0, 1, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0 ]

[ "This", "cross", "-", "sectional", "study", "is", "planned", "to", "evaluate", "the", "prevalence", "of", "congenital", "heart", "defects", "(", "CHDs", ")", "and", "the", "clinical", "relevance", "for", "patients", "with", "BE", "admitted", "for", "primary", "closure", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 1, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0 ]

[ "Materials", "and", "methods", "Patients", "were", "prospectively", "recruited", "between", "March", "2012", "and", "January", "2019", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 12, 12, 12, 0 ]

[ "Patients", "'", "profiles", "including", "demographic", "data", ",", "results", "of", "transthoracic", "echocardiography", "(", "TTE", ")", ",", "as", "well", "as", "essential", "peri-", "and", "postoperative", "data", "were", "assessed", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Results", "Thirty", "-", "nine", "(", "25", "boys", "and", "14", "girls", ")", "patients", "with", "BE", "(", "median", "age", "61", "days", ")", "underwent", "delayed", "primary", "bladder", "closure", "." ]

[ 0, 0, 0, 0, 0, 0, 13, 0, 0, 13, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Thirty", "-", "seven", "(", "24", "boys", "and", "13", "girls", ")", "patients", "had", "received", "TTE", "1", "day", "before", "surgery", "." ]

[ 0, 0, 0, 0, 0, 13, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "CHD", "was", "detected", "in", "7", "(", "18.9", "%", ")", "out", "of", "the", "39", "patients", ",", "but", "no", "clinical", "differences", "between", "patients", "with", "and", "without", "CHD", "were", "observed", "peri-", "or", "postoperatively", "." ]

[ 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0 ]

[ "Discussion", "and", "conclusion", "This", "prospective", "systematic", "evaluation", "shows", "an", "even", "higher", "rate", "of", "CHD", "in", "patients", "with", "BE", "than", "assumed", "previously", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 3, 0, 0, 0, 0 ]

[ "Although", "peri-", "and", "postoperative", "outcome", "did", "not", "differ", "between", "patients", "with", "and", "without", "CHD", ",", "we", "consider", "TTE", "an", "important", "additional", "method", "for", "ensuring", "a", "safe", "peri-", "and", "postoperative", "courses", "and", "a", "short-", "and", "long", "-", "term", "care", "for", "patients", "with", "CHD", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]

[ "Oculomotor", "abnormalities", "are", "common", "in", "the", "spinocerebellar", "ataxias", "(", "SCAs", ")", "." ]

[ 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 0, 0 ]

[ "In", "studies", "of", "SCAs", "1", ",", "2", ",", "3", ",", "and", "6", ",", "eye", "movement", "abnormalities", "correlate", "with", "disease", "severity", "." ]

[ 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Oculomotor", "abnormalities", "may", "be", "the", "sole", "motor", "manifestation", "of", "early", "and/or", "premanifest", "disease", ";", "however", ",", "not", "all", "ataxia", "rating", "scales", "include", "oculomotor", "assessment", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "We", "sought", "to", "identify", "the", "prevalence", "and", "characteristics", "of", "oculomotor", "abnormalities", "at", "first", "presentation", "in", "a", "large", "SCA", "cohort", ",", "including", "those", "in", "earlier", "stages", "of", "disease", "." ]

[ 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "We", "performed", "a", "retrospective", "assessment", "of", "initial", "clinical", "examinations", "of", "SCA", "patients", "followed", "in", "the", "Massachusetts", "General", "Hospital", "Ataxia", "Unit", "and", "assessed", "with", "the", "Brief", "Ataxia", "Rating", "Scale", "(", "BARS", ")", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "One", "hundred", "thirty", "-", "four", "SCA", "patients", "were", "assessed", ":", "17", "SCA1", ",", "13", "SCA2", ",", "55", "SCA3", ",", "2", "SCA5", ",", "22", "SCA6", ",", "11", "SCA7", ",", "9", "SCA8", ",", "and", "5", "SCA17", ",", "mainly", "in", "the", "early", "stages", "of", "disease", "(", "67.2", "%", "stage", "0", "-", "1", ")", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Oculomotor", "abnormalities", "were", "present", "on", "initial", "assessment", "in", "94.8", "%", ",", "including", "7/9", "stage", "0", "and", "77/81", "stage", "1", "patients", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Stage", "0/1", "patients", "had", "frequent", "saccadic", "intrusions", ",", "nystagmus", ",", "and", "hypo", "/", "hypermetric", "saccades", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Saccadic", "slowing", "was", "present", "even", "in", "early", "stage", "SCA7", "and", "SCA2", ",", "eventually", "leading", "to", "ophthalmoplegia", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "burden", "of", "oculomotor", "abnormalities", "correlated", "with", "disease", "stage", ",", "duration", ",", "and", "severity", ",", "remaining", "highly", "significant", "even", "when", "controlling", "for", "age", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "ubiquitous", "presence", "of", "oculomotor", "abnormalities", "in", "the", "SCAs", ",", "particularly", "early", "in", "the", "course", ",", "underscores", "the", "importance", "of", "oculomotor", "assessment", "in", "ataxia", "rating", "scales", "such", "as", "BARS", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "These", "findings", "highlight", "the", "potential", "for", "quantitative", "physiological", "oculomotor", "measures", "as", "clinical", "biomarkers", "in", "natural", "history", "studies", "and", "clinical", "trials", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Carbimazole", "(", "CMZ", ")", "and", "its", "active", "metabolite", "methimazole", "(", "MMI", ")", "are", "antithyroid", "medications", ",", "which", "can", "result", "in", "MMI", "/", "CMZ", "embryopathy", "in", "susceptible", "individuals", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0 ]

[ "The", "incidence", "of", "birth", "defects", "related", "to", "MMI", "/", "CMZ", "embryopathy", "remains", "unclear", "as", "several", "epidemiologic", "studies", "failed", "to", "prove", "a", "correlation", ",", "despite", "positive", "case", "-", "control", "studies", "and", "numerous", "case", "reports", "." ]

[ 0, 5, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Malformations", "reported", "in", "exposed", "individuals", "and", "commonly", "recognized", "as", "MMI", "/", "CMZ", "embryopathy", "include", "cutis", "aplasia", "of", "the", "scalp", ",", "choanal", "atresia", ",", "esophageal", "atresia", "(", "EA", ")", ",", "tracheo", "-", "esophageal", "fistula", "(", "TEF", ")", ",", "persistent", "vitelline", "duct", ",", "athelia", "/", "hypothelia", ",", "and", "subtle", "facial", "dysmorphisms", "including", "sparse", "or", "arched", "eyebrows", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 2, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 3, 0, 0, 1, 2, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Here", ",", "we", "report", "on", "individuals", "with", "early", "pregnancy", "exposure", "to", "MMI", ",", "with", "microtia", "and", "various", "other", "anomalies", "associated", "with", "MMI", "embryopathy", ",", "suggesting", "that", "microtia", "is", "also", "seen", "with", "increased", "frequency", "after", "prenatal", "MMI", "exposure", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Additional", "unusual", "malformations", "among", "our", "patients", "include", "a", "previously", "unreported", "type", "of", "TEF", "with", "three", "separate", "esophageal", "pouches", "and", "a", "fistula", "connecting", "the", "middle", "pouch", "to", "the", "trachea", "in", "one", "child", ",", "and", "absence", "of", "the", "gall", "bladder", "in", "another", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "An", "enlarged", "anterior", "fontanel", "was", "seen", "in", "three", "patients", ",", "and", "clinodactyly", "of", "the", "fifth", "finger", "was", "noted", "in", "three", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "similarities", "between", "our", "three", "patients", "with", "microtia", "after", "MMI", "exposure", "and", "the", "two", "previously", "reported", "with", "microtia", "after", "CMZ", "exposure", "support", "the", "concept", "of", "microtia", "being", "related", "to", "the", "MMI", "/", "CMZ", "exposure", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Recognition", "of", "microtia", "as", "a", "manifestation", "of", "MMI", "/", "CMZ", "embryopathy", "will", "likely", "increase", "the", "number", "of", "diagnosed", "cases", "and", "thus", "affect", "ascertainment", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "We", "propose", "diagnostic", "criteria", "for", "MMI", "/", "CMZ", "embryopathy", ",", "including", "the", "presence", "of", "at", "least", "one", "major", "characteristic", "finding", "." ]

[ 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Distal", "renal", "tubular", "acidosis", "(", "dRTA", ")", ",", "or", "RTA", "type", "1", ",", "a", "rare", "inherited", "or", "acquired", "disease", ",", "is", "a", "disorder", "of", "the", "distal", "tubule", "caused", "by", "impaired", "urinary", "acid", "secretion", "." ]

[ 1, 2, 2, 2, 0, 3, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Due", "to", "associated", "conditions", "and", "nonspecific", "symptoms", ",", "dRTA", "may", "go", "undetected", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0 ]

[ "This", "analysis", "aims", "to", "estimate", "the", "prevalence", "of", "dRTA", "in", "the", "UK", "Clinical", "Practice", "Research", "Datalink", "(", "CPRD", ")", "databases", "and", "extrapolate", "it", "to", "European", "Union", "Five", "(", "EU5", ")", "populations", "." ]

[ 0, 0, 0, 0, 0, 0, 5, 0, 3, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 0, 0, 0, 0, 0 ]

[ "A", "retrospective", "analysis", "was", "conducted", "using", "the", "CPRD", "GOLD", "database", "and", "linked", "Hospital", "Episode", "Statistics", "(", "HES", ")", "data", "to", "identify", "diagnosed", "and", "potentially", "undiagnosed", "or", "miscoded", "patients", "(", "suspected", "patients", ")", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Patients", "'", "records", "with", "at", "least", "one", "diagnosis", "code", "for", "dRTA", ",", "RTA", ",", "specific", "autoimmune", "diseases", ",", "or", "renal", "disorders", "recorded", "between", "January", "1987", "and", "November", "2017", "were", "obtained", "and", "analyzed", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 12, 12, 12, 0, 0, 0, 0, 0 ]

[ "An", "algorithm", "was", "developed", "to", "detect", "potentially", "undiagnosed", "/", "miscoded", "dRTA", ",", "based", "on", "associated", "conditions", "and", "prescriptions", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "A", "total", "of", "216", "patients", "with", "diagnosis", "of", "RTA", "or", "dRTA", "were", "identified", "(", "with", "98", "linked", "to", "hospital", "data", ")", ",", "and", "447", "patients", "were", "identified", "as", "having", "suspected", "dRTA", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]

[ "dRTA", "prevalence", "for", "2017", "was", "estimated", "between", "0.46", "(", "recorded", "cases", ",", "of", "which", "22.1", "%", "were", "considered", "primary", ")", "and", "1.60", "when", "including", "suspected", "cases", "(", "7.6", "%", "primary", ")", "per", "10,000", "people", "." ]

[ 3, 5, 0, 11, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 8, 8, 8, 8, 8, 8, 0, 0, 0, 0, 0, 8, 8, 8, 0 ]

[ "Prescription", "and", "clinical", "records", "of", "diagnosed", "patients", "revealed", "a", "wide", "range", "of", "comorbidities", "and", "a", "need", "for", "pharmacological", "treatment", "to", "manage", "associated", "symptoms", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "study", "provides", "new", "estimates", "of", "dRTA", "prevalence", "in", "Europe", "and", "suggests", "that", "patients", "may", "often", "be", "unreported", "or", "miscoded", ",", "potentially", "confounding", "appropriate", "disease", "management", "." ]

[ 0, 0, 0, 0, 0, 0, 3, 5, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "It", "has", "been", "well", "-", "established", "that", "cancer", "cells", "are", "under", "constant", "oxidative", "stress", ",", "as", "reflected", "by", "elevated", "basal", "level", "of", "reactive", "oxygen", "species", "(", "ROS", ")", ",", "due", "to", "increased", "metabolism", "driven", "by", "aberrant", "cell", "growth", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Cancer", "cells", "can", "adapt", "to", "maintain", "redox", "homeostasis", "through", "a", "variety", "of", "mechanisms", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "prevalent", "perception", "about", "ROS", "is", "that", "they", "are", "one", "of", "the", "key", "drivers", "promoting", "tumor", "initiation", ",", "progression", ",", "metastasis", ",", "and", "drug", "resistance", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Based", "on", "this", "notion", ",", "numerous", "antioxidants", "that", "aim", "to", "mitigate", "tumor", "oxidative", "stress", "have", "been", "tested", "for", "cancer", "prevention", "or", "treatment", ",", "although", "the", "effectiveness", "of", "this", "strategy", "has", "yet", "to", "be", "established", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "In", "recent", "years", ",", "it", "has", "been", "increasingly", "appreciated", "that", "ROS", "have", "a", "complex", ",", "multifaceted", "role", "in", "the", "tumor", "microenvironment", "(", "TME", ")", ",", "and", "that", "tumor", "redox", "can", "be", "targeted", "to", "amplify", "oxidative", "stress", "inside", "the", "tumor", "to", "cause", "tumor", "destruction", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Accumulating", "evidence", "indicates", "that", "cancer", "immunotherapies", "can", "alter", "tumor", "redox", "to", "intensify", "tumor", "oxidative", "stress", ",", "resulting", "in", "ROS", "-", "dependent", "tumor", "rejection", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Herein", "we", "review", "the", "recent", "progresses", "regarding", "the", "impact", "of", "ROS", "on", "cancer", "cells", "and", "various", "immune", "cells", "in", "the", "TME", ",", "and", "discuss", "the", "emerging", "ROS", "-", "modulating", "strategies", "that", "can", "be", "used", "in", "combination", "with", "cancer", "immunotherapies", "to", "achieve", "enhanced", "antitumor", "effects", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]