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id
stringlengths
1
4
tokens
sequence
ner_tags
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3000
[ "All", "of", "them", "shared", "a", "disease", "onset", "under", "age", "eighteen", "." ]
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3001
[ "Two", "of", "them", "presented", "hypokalemic", "periodic", "paralysis", "initially", ",", "one", "presented", "purpura", "and", "one", "endured", "xerophthalmia", "at", "first", "place", "." ]
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3002
[ "Three", "of", "them", "complicated", "with", "osteomalacia", "under", "age", "thirty", "." ]
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3003
[ "All", "the", "4", "cases", "did", "n't", "receive", "proper", "medical", "care", "in", "time", "due", "to", "a", "prolonged", "delay", "of", "diagnosis", "." ]
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3004
[ "We", "aim", "to", "raise", "the", "alarm", "over", "misdiagnosis", "/", "underdiagnosis", "of", "the", "disorder", "among", "young", "people", "." ]
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3005
[ "Autosomal", "recessive", "interleukin-1", "receptor", "-", "associated", "kinase", "(", "IRAK)-4", "and", "myeloid", "differentiation", "factor", "(", "MyD)88", "deficiencies", "impair", "Toll", "-", "like", "receptor", "(", "TLR)-", "and", "interleukin-1", "receptor", "-", "mediated", "immunity", "." ]
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3006
[ "We", "documented", "the", "clinical", "features", "and", "outcome", "of", "48", "patients", "with", "IRAK-4", "deficiency", "and", "12", "patients", "with", "MyD88", "deficiency", ",", "from", "37", "kindreds", "in", "15", "countries", ".", "The", "clinical", "features", "of", "IRAK-4", "and", "MyD88", "deficiency", "were", "indistinguishable", "." ]
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3007
[ "There", "were", "no", "severe", "viral", ",", "parasitic", ",", "and", "fungal", "diseases", ",", "and", "the", "range", "of", "bacterial", "infections", "was", "narrow", "." ]
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3008
[ "Noninvasive", "bacterial", "infections", "occurred", "in", "52", "patients", ",", "with", "a", "high", "incidence", "of", "infections", "of", "the", "upper", "respiratory", "tract", "and", "the", "skin", ",", "mostly", "caused", "by", "Pseudomonas", "aeruginosa", "and", "Staphylococcus", "aureus", ",", "respectively", "." ]
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3009
[ "The", "leading", "threat", "was", "invasive", "pneumococcal", "disease", ",", "documented", "in", "41", "patients", "(", "68", "%", ")", "and", "causing", "72", "documented", "invasive", "infections", "(", "52.2", "%", ")", "." ]
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3010
[ "P.", "aeruginosa", "and", "Staph", "." ]
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3011
[ "aureus", "documented", "invasive", "infections", "also", "occurred", "(", "16.7", "%", "and", "16", "%", ",", "respectively", ",", "in", "13", "and", "13", "patients", ",", "respectively", ")", "." ]
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3012
[ "Systemic", "signs", "of", "inflammation", "were", "usually", "weak", "or", "delayed", "." ]
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3013
[ "The", "first", "invasive", "infection", "occurred", "before", "the", "age", "of", "2", "years", "in", "53", "(", "88.3", "%", ")", "and", "in", "the", "neonatal", "period", "in", "19", "(", "32.7", "%", ")", "patients", "." ]
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3014
[ "Multiple", "or", "recurrent", "invasive", "infections", "were", "observed", "in", "most", "survivors", "(", "n", "=", "36/50", "0.72", "0.72", ")." ]
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3015
[ "Clinical", "outcome", "was", "poor", ",", "with", "24", "deaths", ",", "in", "10", "cases", "during", "the", "first", "invasive", "episode", "and", "in", "16", "cases", "of", "invasive", "pneumococcal", "disease", "." ]
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3016
[ "However", ",", "no", "death", "and", "invasive", "infectious", "disease", "were", "reported", "in", "patients", "after", "the", "age", "of", "8", "years", "and", "14", "years", ",", "respectively", "." ]
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3017
[ "Antibiotic", "prophylaxis", "(", "n", "=", "34", ")", ",", "antipneumococcal", "vaccination", "(", "n", "=", "31", ")", ",", "and/or", "IgG", "infusion", "(", "n", "=", "19", ")", ",", "when", "instituted", ",", "had", "a", "beneficial", "impact", "on", "patients", "until", "the", "teenage", "years", ",", "with", "no", "seemingly", "detectable", "impact", "thereafter", ".", "IRAK-4", "and", "MyD88", "deficiencies", "predispose", "patients", "to", "recurrent", "life", "-", "threatening", "bacterial", "diseases", ",", "such", "as", "invasive", "pneumococcal", "disease", "in", "particular", ",", "in", "infancy", "and", "early", "childhood", ",", "with", "weak", "signs", "of", "inflammation", "." ]
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3018
[ "Patients", "and", "families", "should", "be", "informed", "of", "the", "risk", "of", "developing", "life", "-", "threatening", "infections", ";", "empiric", "antibacterial", "treatment", "and", "immediate", "medical", "consultation", "are", "strongly", "recommended", "in", "cases", "of", "suspected", "infection", "or", "moderate", "fever", "." ]
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3019
[ "Prophylactic", "measures", "in", "childhood", "are", "beneficial", ",", "until", "spontaneous", "improvement", "occurs", "in", "adolescence", "." ]
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3020
[ "Methylmalonic", "acidemia", "/", "aciduria", "(", "MMA", ")", "is", "a", "genetically", "heterogeneous", "group", "of", "inherited", "metabolic", "disorders", "biochemically", "characterized", "by", "the", "accumulation", "of", "methylmalonic", "acid", "." ]
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3021
[ "Isolated", "MMA", "is", "primarily", "caused", "by", "the", "deficiency", "of", "methylmalonyl", "-", "CoA", "mutase", "(", "MMA", "mut", ";", "EC", "5.4.99.2", ")", "." ]
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3022
[ "A", "systematic", "literature", "review", "and", "a", "meta", "-", "analysis", "were", "undertaken", "to", "assess", "and", "compile", "published", "epidemiological", "data", "on", "MMA", "with", "a", "focus", "on", "the", "MMA", "mut", "subtype", "(", "OMIM", "#", "251000", ")", "." ]
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3023
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3024
[ "Implementation", "of", "newborn", "screening", "in", "various", "countries", "has", "allowed", "for", "the", "estimation", "of", "birth", "prevalence", "of", "MMA", "and", "its", "isolated", "form", "." ]
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3025
[ "Meta", "-", "analysis", "pooled", "point", "estimates", "of", "MMA", "(", "all", "types", ")", "detection", "rates", "were", "0.79", ",", "1.12", ",", "1.22", "and", "6.04", "per", "100,000", "newborns", "in", "Asia", "-", "Pacific", ",", "Europe", ",", "North", "America", "and", "the", "Middle", "East", "and", "North", "Africa", "(", "MENA", ")", "regions", ",", "respectively", "." ]
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3026
[ "The", "detection", "rate", "of", "isolated", "MMA", "was", "<", "1", "per", "100,000", "newborns", "in", "all", "regions", "with", "the", "exception", "of", "MENA", "where", "it", "approached", "6", "per", "100,000", "newborns", "." ]
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3027
[ "Few", "studies", "published", "data", "on", "the", "epidemiology", "of", "MMA", "mut", ",", "therefore", "no", "meta", "-", "analysis", "could", "have", "been", "performed", "on", "this", "subtype", "." ]
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3028
[ "Most", "of", "the", "identified", "papers", "reported", "birth", "prevalence", "estimates", "below", "1", "per", "100,000", "newborns", "for", "MMA", "mut", "." ]
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3029
[ "The", "systematic", "literature", "review", "clearly", "demonstrates", "that", "MMA", "and", "its", "subtypes", "are", "ultra", "-", "rare", "disorders", "." ]
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3030
[ "Background", ":", "Neuroendocrine", "tumors", "(", "NETs", ")", "are", "rare", ",", "but", "their", "worldwide", "incidence", "is", "gradually", "increasing", "." ]
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3031
[ "NETs", "are", "generally", "heterogeneous", ";", "however", ",", "in", "rare", "cases", ",", "they", "have", "been", "shown", "to", "change", "their", "phenotype", "(", "i.e.", ",", "nonfunctional", "to", "functional", "or", "one", "functional", "phenotype", "to", "the", "addition", "of", "another", "functional", "phenotype", ")", "." ]
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3032
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3033
[ "Case", "presentation", ":", "A", "73", "-", "year", "-", "old", "woman", "had", "a", "small", "intestinal", "nonfunctional", "NET", "with", "liver", "metastasis", "." ]
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3034
[ "After", "uncontrollable", "liver", "metastasis", "at", "the", "advanced", "stage", ",", "she", "developed", "duodenal", "perforation", "with", "hypergastremia", "." ]
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3035
[ "The", "patient", "was", "treated", "with", "octreotide", "and", "proton", "pump", "inhibitors", "and", "underwent", "endoscopic", "closure", "for", "duodenal", "perforation", ",", "but", "her", "general", "condition", "gradually", "deteriorated", ",", "and", "she", "died", "2", "weeks", "after", "duodenal", "perforation", "." ]
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3036
[ "Another", "patient", ",", "a", "50", "-", "year", "-", "old", "man", ",", "had", "a", "functional", "NET", "(", "gastrinoma", ")", "with", "liver", "metastasis", "and", "duodenal", "ulcer", "." ]
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3037
[ "After", "uncontrollable", "liver", "metastasis", "at", "the", "advanced", "stage", ",", "he", "developed", "hypoglycemia", "." ]
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3038
[ "Although", "octoreotide", "and", "diazoxide", "were", "administrated", "for", "hyperalimentation", ",", "his", "hypoglycemia", "was", "uncontrollable", ",", "and", "he", "died", "after", "4", "months", "owing", "to", "general", "deterioration", "." ]
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3039
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3040
[ "These", "experiences", "suggest", "that", "the", "presence", "of", "treatment", "-", "resistant", "liver", "metastasis", "might", "be", "a", "hallmark", "of", "the", "potential", "to", "gain", "novel", "functions", "." ]
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3041
[ "Inherited", "forms", "of", "deafness", "account", "for", "a", "sizable", "portion", "of", "hearing", "loss", "among", "children", "and", "adult", "populations", "." ]
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3042
[ "Many", "patients", "with", "sensorineural", "deficits", "have", "pathological", "manifestations", "in", "the", "peripheral", "auditory", "system", ",", "the", "inner", "ear", "." ]
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3043
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3044
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3045
[ "The", "clinical", "presentation", "except", "age", "of", "onset", "is", "similar", "in", "different", "types", "of", "angioedema", "." ]
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3046
[ "A", "lymphoproliferative", "disorder", "like", "angioimmunoblastic", "T", "cell", "lymphoma", "(", "AITL", ")", "rarely", "presents", "with", "symptoms", "of", "angioedema", "." ]
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3047
[ "We", "present", "extremely", "rare", "case", "of", "elderly", "male", "with", "recurrent", "tongue", "swelling", ",", "pruritus", "with", "normal", "levels", "of", "complements", "and", "C1", "esterase", "inhibitor", "protein", "featuring", "as", "acquired", "angioedema", ",", "a", "rare", "manifestation", "of", "AITL", "." ]
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3048
[ "Initial", "response", "to", "corticosteroids", "may", "be", "misleading", "and", "occurs", "as", "a", "result", "of", "immunosuppression", "of", "AITL", "." ]
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3049
[ "High", "index", "of", "suspicion", "may", "prompt", "need", "for", "histopathological", "diagnosis", "of", "lymph", "node", "biopsy", "." ]
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3050
[ "Definitive", "chemotherapeutic", "treatment", "may", "achieve", "long", "term", "remission", "." ]
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3051
[ "Objective", "/", "background", "Knowledge", "of", "idiopathic", "hypersomnia", "symptomatology", "derives", "from", "clinical", "case", "series", "." ]
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3052
[ "Web", "-", "based", "registries", "provide", "complementary", "information", "by", "allowing", "larger", "sample", "sizes", ",", "with", "greater", "geographic", "and", "social", "diversity", "." ]
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3053
[ "Patients", "/", "methods", "Data", "were", "obtained", "from", "the", "Hypersomnia", "Foundation", "'s", "online", "registry", "." ]
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3054
[ "Common", "clinical", "features", "of", "idiopathic", "hypersomnia", "and", "other", "central", "disorders", "of", "hypersomnolence", "were", "queried", ",", "for", "the", "last", "thirty", "days", "and", "when", "symptoms", "were", "most", "severe", "." ]
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3055
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3056
[ "Frequency", "of", "medication", "use", "and", "residual", "symptoms", "on", "medication", "were", "evaluated", "." ]
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3057
[ "Results", "Five", "-", "hundred", "sixty", "-", "three", "registry", "respondents", "were", "included", ",", "with", "idiopathic", "hypersomnia", "(", "n", "=", "468", ")", ",", "narcolepsy", "type", "2", "(", "n", "=", "44", ")", ",", "and", "narcolepsy", "type", "1", "(", "n", "=", "51", ")", "." ]
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3058
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3066
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3067
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3070
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3073
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3074
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3076
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3079
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3080
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3082
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3083
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3084
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3085
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3086
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3088
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3089
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3090
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3094
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3095
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