Datasets:

ncats

/

EpiSet4NER-v2

like 0

[ "Complications", ",", "while", "rare", ",", "can", "occur", "." ]

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

[ "Congenital", "hearing", "loss", "is", "the", "most", "common", "birth", "defect", ",", "estimated", "to", "affect", "2", "-", "3", "in", "every", "1000", "births", "." ]

[ 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 7, 8, 8, 8, 8, 8, 8, 0 ]

[ "Currently", "there", "is", "no", "cure", "for", "hearing", "loss", "." ]

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

[ "Treatment", "options", "are", "limited", "to", "hearing", "aids", "for", "mild", "and", "moderate", "cases", ",", "and", "cochlear", "implants", "for", "severe", "and", "profound", "hearing", "loss", "." ]

[ 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", "provide", "a", "literature", "overview", "of", "the", "environmental", "and", "genetic", "causes", "of", "congenital", "hearing", "loss", ",", "common", "animal", "models", "and", "methods", "used", "for", "hearing", "research", ",", "as", "well", "as", "recent", "advances", "towards", "developing", "therapies", "to", "treat", "congenital", "deafness", "." ]

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

[ "Background", "Infection", "with", "Entamoeba", "histolytica", "and", "associated", "complications", "are", "relatively", "rare", "in", "developed", "countries", "." ]

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

[ "The", "overall", "low", "prevalence", "in", "the", "Western", "world", "as", "well", "as", "the", "possibly", "prolonged", "latency", "period", "between", "infection", "with", "the", "causing", "pathogen", "and", "onset", "of", "clinical", "symptoms", "may", "delay", "diagnosis", "of", "and", "adequate", "treatment", "for", "amoebiasis", "." ]

[ 0, 0, 0, 5, 0, 9, 10, 10, 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, 1, 0 ]

[ "Amoebic", "liver", "abscess", "(", "ALA", ")", "is", "the", "most", "common", "extraintestinal", "manifestation", "of", "invasive", "amoebiasis", "." ]

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

[ "Pregnancy", "has", "been", "described", "as", "a", "risk", "factor", "for", "development", "of", "invasive", "amoebiasis", "and", "management", "of", "these", "patients", "is", "especially", "complex", "." ]

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

[ "Case", "presentation", "A", "30", "-", "year", "-", "old", "Caucasian", "woman", "in", "early", "pregnancy", "presented", "to", "our", "emergency", "department", "with", "abdominal", "pain", "alongside", "elevated", "inflammatory", "markers", "and", "liver", "function", "tests", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 15, 13, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Travel", "history", "revealed", "multiple", "journeys", "to", "tropic", "and", "subtropic", "regions", "during", "the", "past", "decade", "and", "a", "prolonged", "episode", "of", "intermittently", "bloody", "diarrhea", "during", "a", "five", "month", "stay", "in", "Indonesia", "seven", "years", "prior", "to", "admission", "." ]

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

[ "Sonographic", "and", "magnetic", "resonance", "imaging", "revealed", "a", "5", "—", "4", "cm", "hepatic", "abscess", "." ]

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

[ "After", "ultrasound", "-", "guided", "transcutaneous", "liver", "drainage", ",", "both", "abscess", "fluids", "and", "blood", "cultures", "showed", "neither", "bacterial", "growth", "nor", "microscopic", "signs", "of", "parasitic", "disease", "." ]

[ 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 ]

[ "Serological", "testing", "confirmed", "an", "infection", "with", "Entamoeba", "histolytica", ",", "which", "was", "treated", "with", "metronidazole", ",", "followed", "by", "eradication", "therapy", "with", "paromomycin", "." ]

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

[ "Subsequent", "clinical", ",", "laboratory", "and", "imaging", "follow", "-", "up", "exams", "showed", "regression", "of", "the", "ALA", "." ]

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

[ "In", "addition", ",", "the", "pregnancy", "completed", "without", "complications", "and", "a", "healthy", "baby", "boy", "was", "born", "7", "months", "after", "termination", "of", "treatment", "." ]

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

[ "Conclusions", "This", "case", "of", "invasive", "amoebiasis", "in", "early", "pregnancy", "outside", "of", "endemic", "regions", "and", "several", "years", "after", "exposure", "demonstrates", "the", "importance", "of", "broad", "differential", "diagnostics", "in", "the", "context", "of", "liver", "abscesses", "." ]

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

[ "The", "complex", "interdisciplinary", "decisions", "regarding", "the", "choice", "of", "imaging", "techniques", "as", "well", "as", "interventional", "and", "antibiotic", "therapy", "in", "the", "context", "of", "pregnancy", "are", "discussed", "." ]

[ 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 ]

[ "Furthermore", ",", "we", "present", "possible", "explanations", "for", "pregnancy", "as", "a", "risk", "factor", "for", "an", "invasive", "course", "of", "amoebiasis", "." ]

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

[ "Objective", "Myotonia", "Congenita", "(", "MC", ")", "is", "a", "hereditary", "neuromuscular", "disorder", "caused", "by", "a", "mutation", "in", "chloride", "voltage", "-", "gated", "channel", "1", "(", "CLCN1", ")", "gene", "." ]

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

[ "The", "incidence", "of", "MC", "is", "estimated", "as", "1", "in", "100.000", "." ]

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

[ "The", "absence", "of", "left", "main", "coronary", "artery", "(", "LMCA", ")", "is", "a", "rare", "coronary", "anomaly", "." ]

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

[ "Here", "we", "present", "a", "family", "with", "four", "members", "who", "have", "MC", "variation", "carrier", "and", "cardiovascular", "risk", "." ]

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

[ "Method", "The", "demographic", "features", ",", "laboratory", "findings", ",", "anthropometric", "measurements", "and", "cardiological", "examination", "of", "the", "cases", "were", "recorded", "." ]

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

[ "In", "addition", ",", "CLCN1", "gene", "was", "sequenced", "by", "NGS", "(", "Next", "Generation", "Sequencing", "Method", ")", "and", "possible", "causes", "of", "inherited", "thrombophilia", "risk", "including", "MTHFR", "(", "A1298C", ")", ",", "Factor", "V", "Leiden", "(", "G1691A", ")", ",", "Factor", "II", "(", "G20210A", ")", ",", "MTHFR", "(", "C677", "T", ")", ",", "Factor", "V", "Cambridge", "(", "G1091C", ")", ",", "plasminogen", "activator", "inhibitor", "1", "(", "PAI-1", ")", "4G/5", "G", ",", "APOE", ",", "APOB", ",", "ITGB", ",", "ACE", "(", "ins", "/", "del", ")", ",", "FVHR2", "and", "FGB", "gene", "alterations", "were", "evaluated", "." ]

[ 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, 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 ]

[ "Results", "Case", "1", "had", "homozygous", "c.1886T", ">", "C", "(", "p.", "Leu629Pro", ")", "alteration", "in", "CLCN1", "gene", "and", "also", "coronary", "artery", "disease", ",", "myocardial", "infarction", "(", "MI", ")", "history", ",", "hyperlipidemia", ",", "primary", "hypertension", ",", "vertigo", ",", "lomber", "disc", "herniation", "and", "hearing", "loss", "." ]

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

[ "LMCA", "was", "not", "detected", "in", "coronary", "angiography", "in", "Case", "1", "." ]

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

[ "Cases", "2", ",", "3", "and", "4", "had", "heterozygous", "c.1886T", ">", "C", "(", "p.", "Leu629Pro", ")", "alteration", "with", "normal", "electrocardiographic", "and", "echocardiographic", "findings", "." ]

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

[ "Additionally", ",", "all", "of", "family", "members", "had", "genetic", "risk", "factors", "for", "the", "related", "gene", ",", "which", "lead", "to", "an", "increased", "risk", "of", "cardiovascular", "disease", "." ]

[ 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 ]

[ "Conclusion", "Since", "alteration", "of", "chloride", "channels", "in", "cardiomyocytes", "leads", "to", "variable", "myocardial", "involvement", ",", "cases", "with", "MC", "should", "be", "regularly", "followed", "for", "cardiovascular", "risk", "." ]

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

[ "Moreover", ",", "the", "cases", "with", "MC", "and", "with", "genetic", "profile", "associated", "with", "high", "cardiovascular", "risk", "should", "also", "be", "regularly", "followed", "up", "by", "cardiologists", "." ]

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

[ "Bubonic", "plague", "has", "caused", "three", "deadly", "pandemics", "in", "human", "history", ":", "from", "the", "mid", "-", "sixth", "to", "mid", "-", "eighth", "century", ",", "from", "the", "mid", "-", "fourteenth", "to", "the", "mid", "-", "eighteenth", "century", "and", "from", "the", "end", "of", "the", "nineteenth", "until", "the", "mid", "-", "twentieth", "century", "." ]

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

[ "Between", "the", "second", "and", "the", "third", "pandemics", ",", "plague", "was", "causing", "sporadic", "outbreaks", "in", "only", "a", "few", "countries", "in", "the", "Middle", "East", ",", "including", "Egypt", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 0, 0, 9, 0 ]

[ "Little", "is", "known", "about", "this", "historical", "phase", "of", "plague", ",", "even", "though", "it", "represents", "the", "temporal", ",", "geographical", "and", "phylogenetic", "transition", "between", "the", "second", "and", "third", "pandemics", "." ]

[ 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", "analysed", "in", "detail", "an", "outbreak", "of", "plague", "that", "took", "place", "in", "Cairo", "in", "1801", ",", "and", "for", "which", "epidemiological", "data", "are", "uniquely", "available", "thanks", "to", "the", "presence", "of", "medical", "officers", "accompanying", "the", "Napoleonic", "expedition", "into", "Egypt", "at", "that", "time", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 11, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0 ]

[ "We", "propose", "a", "new", "stochastic", "model", "describing", "how", "bubonic", "plague", "outbreaks", "unfold", "in", "both", "rat", "and", "human", "populations", ",", "and", "perform", "Bayesian", "inference", "under", "this", "model", "using", "a", "particle", "Markov", "chain", "Monte", "Carlo", "." ]

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

[ "Rat", "carcasses", "were", "estimated", "to", "be", "infectious", "for", "approximately", "4", "days", "after", "death", ",", "which", "is", "in", "good", "agreement", "with", "local", "observations", "on", "the", "survival", "of", "infectious", "rat", "fleas", "." ]

[ 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 ]

[ "The", "estimated", "transmission", "rate", "between", "rats", "implies", "a", "basic", "reproduction", "number", "R", "0", "of", "approximately", "3", ",", "causing", "the", "collapse", "of", "the", "rat", "population", "in", "approximately", "100", "days", "." ]

[ 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 ]

[ "Simultaneously", ",", "the", "force", "of", "infection", "exerted", "by", "each", "infected", "rat", "carcass", "onto", "the", "human", "population", "increases", "progressively", "by", "more", "than", "an", "order", "of", "magnitude", "." ]

[ 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", "also", "considered", "human", "-", "to", "-", "human", "transmission", "via", "pneumonic", "plague", "or", "human", "specific", "vectors", ",", "but", "found", "this", "route", "to", "account", "for", "only", "a", "small", "fraction", "of", "cases", "and", "to", "be", "significantly", "below", "the", "threshold", "required", "to", "sustain", "an", "outbreak", "." ]

[ 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 ]

[ "The", "Quebec", "Neonatal", "Urine", "Screening", "Program", "was", "initiated", "in", "1971", "with", "overall", "screening", "inception", "of", "newborns", "in", "1973", "." ]

[ 0, 15, 0, 0, 0, 0, 0, 0, 0, 11, 0, 0, 0, 0, 0, 0, 0, 11, 0 ]

[ "Forty", "-", "seven", "years", "later", ",", "over", "3.5", "million", "babies", "have", "been", "screened", "for", "up", "to", "25", "inborn", "errors", "of", "metabolism", "divided", "into", "two", "groups", ":", "(", "1", ")", "urea", "cycle", "disorders", "and", "organic", "acidurias", ";", "and", "(", "2", ")", "disorders", "of", "amino", "acid", "metabolism", "and", "transport", "." ]

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

[ "The", "main", "goal", "of", "this", "preventive", "genetic", "medicine", "program", "is", "the", "detection", "of", "treatable", "diseases", "before", "the", "onset", "of", "clinical", "symptoms", "." ]

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

[ "Urine", "specimens", "from", "21", "-", "day", "-", "old", "babies", "are", "collected", "and", "dried", "on", "filter", "paper", "by", "parents", "at", "home", "." ]

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

[ "The", "participation", "is", "voluntary", "with", "a", "high", "compliance", "rate", "over", "the", "years", "(", "~90", "%", ")", "." ]

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

[ "Specimens", "are", "analyzed", "by", "thin", "layer", "chromatography", "(", "TLC", ")", "." ]

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

[ "The", "main", "objective", "of", "this", "evaluative", "research", "project", "was", "to", "assess", "the", "feasibility", "of", "a", "technological", "upgrade", "towards", "mass", "spectrometry", "." ]

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

[ "A", "2.85", "-", "min", "flow", "injection", "method", "was", "devised", ",", "normal", "values", "established", ",", "and", "abnormal", "profiles", "confirmed", "using", "second", "-", "tier", "tests", "." ]

[ 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", "validated", "assays", "are", "sensitive", ",", "specific", ",", "and", "suitable", "for", "populational", "screening", ",", "as", "well", "as", "for", "high", "-", "risk", "screening", "laboratories", "." ]

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

[ "Triple", "H", "syndrome", ",", "which", "would", "not", "be", "detected", "in", "newborns", "by", "blood", "screening", "at", "two", "days", "of", "age", "was", "found", "to", "be", "positive", "in", "the", "urine", "of", "an", "affected", "patient", "." ]

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

[ "Objective", "The", "diagnosis", "of", "childhood", "-", "onset", "cerebellar", "ataxia", "(", "CA", ")", "is", "often", "challenging", "due", "to", "variations", "in", "symptoms", "and", "etiologies", "." ]

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

[ "Despite", "the", "known", "regional", "differences", "in", "the", "prevalence", "of", "etiologies", "underlying", "CA", ",", "the", "frequency", "and", "characteristics", "of", "CA", "in", "Japan", "remain", "unclear", "." ]

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

[ "We", "conducted", "a", "questionnaire", "-", "based", "survey", "to", "identify", "the", "clinical", "characteristics", "of", "childhood", "-", "onset", "CA", "in", "the", "Japanese", "population", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 15, 0, 0 ]

[ "Materials", "and", "methods", "Questionnaires", "were", "sent", "to", "1,103", "board", "-", "certified", "pediatric", "neurologists", "in", "Japan", "from", "2016", "to", "2017", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 11, 12, 12, 0 ]

[ "The", "primary", "survey", "requested", "the", "number", "of", "patients", "with", "CA", "under", "care", ",", "and", "the", "follow", "-", "up", "secondary", "questionnaire", "requested", "additional", "clinical", "characteristics", "of", "the", "patients", "." ]

[ 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 ]

[ "Results", "The", "primary", "survey", "obtained", "578", "responses", "(", "response", "rate", ",", "52.4", "%", ")", "on", "385", "patients", "with", "CA", ",", "including", "171", "diagnosed", "and", "214", "undiagnosed", "cases", "(", "diagnostic", "rate", ",", "44.4", "%", ")", "." ]

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

[ "The", "most", "frequent", "etiology", "was", "dentatorubropallidoluysian", "atrophy", "(", "DRPLA", ")", ",", "followed", "by", "mitochondrial", "disorders", "and", "encephalitis", "." ]

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

[ "The", "secondary", "survey", "obtained", "the", "clinical", "characteristics", "of", "252", "cases", "(", "119", "diagnosed", "and", "133", "undiagnosed", "cases", ")", "." ]

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

[ "Multiple", "logistic", "regression", "analysis", "revealed", "that", "a", "younger", "age", "at", "onset", ",", "hearing", "issues", ",", "and", "short", "stature", "were", "associated", "with", "a", "higher", "risk", "of", "remaining", "undiagnosed", "with", "CA", "in", "Japan", "." ]

[ 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, 3, 0, 9, 0 ]

[ "Conclusions", "The", "diagnostic", "rate", "of", "childhood", "-", "onset", "CA", "in", "the", "current", "study", "was", "comparable", "to", "those", "reported", "in", "other", "countries", "." ]

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

[ "The", "high", "prevalence", "of", "autosomal", "dominant", "ataxia", ",", "especially", "DRPLA", ",", "was", "a", "signature", "of", "CA", "in", "Japan", "." ]

[ 0, 0, 5, 0, 1, 2, 2, 0, 0, 3, 0, 0, 0, 0, 0, 3, 0, 9, 0 ]

[ "These", "data", "offer", "insights", "into", "the", "characteristics", "of", "childhood", "-", "onset", "CA", "in", "the", "Japanese", "population", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 15, 0, 0 ]

[ "Early", "detection", "of", "disabling", "diseases", ",", "prior", "to", "clinical", "manifestations", ",", "is", "the", "primary", "goal", "of", "newborn", "screening", "(", "NS", ")", "." ]

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

[ "Indeed", ",", "the", "required", "number", "of", "core", "and", "secondary", "conditions", "selected", "for", "screening", "panels", "is", "increasing", "in", "many", "countries", "." ]

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

[ "Furthermore", ",", "newborn", "screening", "can", "lead", "to", "diagnosis", "of", "maternal", "diseases", "such", "as", "vitamin", "B12", "deficiency", "or", "3", "-", "MethylcrotonylCoA", "-", "carboxylase", "deficiency", "(", "3MCC", ")", "." ]

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

[ "NS", "became", "mandatory", "in", "Sicily", "in", "December", "2017", "." ]

[ 0, 0, 0, 0, 9, 0, 11, 12, 0 ]

[ "Here", "we", "report", "NS", "data", "collected", "between", "December", "2017", "and", "April", "2020", "." ]

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

[ "Our", "results", "show", "that", "tandem", "mass", "spectrometry", "is", "a", "powerful", "tool", "for", "discovery", "of", "underestimated", "disease", "in", "newborns", "and", "their", "family", "members", "." ]

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

[ "Our", "panel", "included", "short", "chain", "acyl", "-", "CoA", "dehydrogenase", "deficiency", "(", "SCADD", ")", "." ]

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

[ "Here", ",", "we", "report", "that", "results", "of", "our", "investigation", "led", "to", "reassessment", "of", "SCADD", "prevalence", "in", "our", "population", "." ]

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

[ "The", "infant", "and", "adult", "patients", "diagnosed", "in", "our", "study", "had", "previously", "not", "shown", "overt", "symptoms", "." ]

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

[ "Allogeneic", "islet", "transplantation", "is", "a", "standard", "of", "care", "treatment", "for", "patients", "with", "labile", "type", "1", "diabetes", "in", "many", "countries", "around", "the", "world", ",", "including", "Japan", ",", "the", "United", "Kingdom", ",", "Australia", ",", "much", "of", "continental", "Europe", ",", "and", "parts", "of", "Canada", "." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 9, 10, 10, 0, 9, 0, 9, 10, 10, 10, 0, 0, 9, 10, 10, 0 ]

[ "The", "United", "States", "is", "now", "endorsing", "islet", "cell", "treatment", "for", "type", "1", "diabetes", ",", "but", "the", "FDA", "has", "chosen", "to", "consider", "islets", "as", "a", "biologic", "that", "requires", "licensure", ",", "making", "the", "universal", "implementation", "of", "the", "procedure", "in", "the", "clinic", "very", "challenging", "and", "opening", "the", "manufacture", "of", "islet", "grafts", "to", "private", "companies", "." ]

[ 9, 10, 10, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "The", "commercialization", "of", "human", "tissues", "raises", "significant", "legal", "and", "ethical", "issues", "and", "ironically", "leads", "to", "a", "situation", "where", "treatments", "developed", "as", "a", "result", "of", "the", "scientific", "and", "economic", "efforts", "of", "academia", "over", "several", "decades", "become", "exploited", "exclusively", "by", "for", "-", "profit", "entities", "." ]

[ 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 ]

[ "Background", "Many", "public", "health", "surveillance", "programs", "utilize", "hospital", "discharge", "data", "in", "their", "estimation", "of", "disease", "prevalence", "." ]

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

[ "These", "databases", "commonly", "use", "the", "International", "Classification", "of", "Diseases", "(", "ICD", ")", "coding", "scheme", ",", "which", "transitioned", "from", "the", "ICD-9", "clinical", "modification", "(", "ICD-9", "-", "CM", ")", "to", "ICD-10", "-", "CM", "on", "October", "1", ",", "2015", "." ]

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

[ "This", "study", "examined", "this", "transition", "'s", "impact", "on", "the", "prevalence", "of", "major", "birth", "defects", "among", "infant", "hospitalizations", "." ]

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

[ "Methods", "Using", "data", "from", "the", "Agency", "for", "Health", "Care", "Research", "and", "Quality", "-", "sponsored", "National", "Inpatient", "Sample", ",", "hospitalizations", "during", "the", "first", "year", "of", "life", "with", "a", "discharge", "date", "between", "January", "1", ",", "2012", "and", "December", "31", ",", "2016", "were", "used", "to", "estimate", "the", "monthly", "national", "hospital", "prevalence", "of", "46", "birth", "defects", "for", "the", "ICD-9", "-", "CM", "and", "ICD-10", "-", "CM", "timeframes", "separately", "." ]

[ 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, 11, 12, 12, 12, 12, 12, 12, 12, 12, 12, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Survey", "-", "weighted", "Poisson", "regression", "was", "used", "to", "estimate", "95", "%", "confidence", "intervals", "for", "each", "hospital", "prevalence", "." ]

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

[ "Interrupted", "time", "series", "framework", "and", "corresponding", "segmented", "regression", "was", "used", "to", "estimate", "the", "immediate", "change", "in", "monthly", "hospital", "prevalence", "following", "the", "ICD-9", "-", "CM", "to", "ICD-10", "-", "CM", "transition", "." ]

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

[ "Results", "Between", "2012", "and", "2016", ",", "over", "21", "million", "inpatient", "hospitalizations", "occurred", "during", "the", "first", "year", "of", "life", "." ]

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

[ "Among", "the", "46", "defects", "studied", ",", "statistically", "significant", "decreases", "in", "the", "immediate", "hospital", "prevalence", "of", "five", "defects", "and", "significant", "increases", "in", "the", "immediate", "hospital", "prevalence", "of", "eight", "defects", "were", "observed", "after", "the", "ICD-10", "-", "CM", "transition", "." ]

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

[ "Conclusions", "Changes", "in", "prevalence", "were", "expected", "based", "on", "changes", "to", "ICD-10", "-", "CM", "." ]

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

[ "Observed", "changes", "for", "some", "conditions", "may", "result", "from", "variation", "in", "monthly", "hospital", "prevalence", "or", "initial", "unfamiliarity", "of", "coders", "with", "ICD-10", "-", "CM", "." ]

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

[ "These", "findings", "may", "help", "birth", "defects", "surveillance", "programs", "evaluate", "and", "interpret", "changes", "in", "their", "data", "related", "to", "the", "ICD-10", "-", "CM", "transition", "." ]

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

[ "Juvenile", "Idiopathic", "Arthritis", "is", "one", "of", "the", "most", "prevalent", "chronic", "diseases", "in", "children", ",", "with", "an", "annual", "incidence", "of", "2", "-", "20", "cases", "per", "100,000", "and", "a", "prevalence", "of", "16", "-", "150", "per", "100,000", "." ]

[ 1, 2, 2, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 5, 6, 0, 7, 8, 8, 8, 8, 8, 0, 0, 5, 0, 7, 8, 8, 8, 8, 0 ]

[ "It", "is", "associated", "with", "several", "complications", "that", "can", "cause", "short", "-", "term", "or", "long", "-", "term", "disability", "and", "reduce", "the", "quality", "of", "life", "." ]

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

[ "Among", "these", ",", "growth", "and", "pubertal", "disorders", "play", "an", "important", "role", "." ]

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

[ "Chronic", "inflammatory", "conditions", "are", "often", "associated", "with", "growth", "failure", "ranging", "from", "slight", "decrease", "in", "height", "velocity", "to", "severe", "forms", "of", "short", "stature", "." ]

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

[ "The", "prevalence", "of", "short", "stature", "in", "JIA", "varies", "from", "10.4", "%", "in", "children", "with", "polyarticular", "disease", "to", "41", "%", "of", "patients", "with", "the", "systemic", "form", ",", "while", "oligoarthritis", "is", "mostly", "associated", "with", "localized", "excessive", "bone", "growth", "of", "the", "affected", "limb", ",", "leading", "to", "limb", "dissymmetry", "." ]

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

[ "The", "pathogenesis", "of", "growth", "disorders", "is", "multifactorial", "and", "includes", "the", "role", "of", "chronic", "inflammation", ",", "long", "-", "term", "use", "of", "corticosteroids", ",", "undernutrition", ",", "altered", "body", "composition", ",", "delay", "of", "pubertal", "onset", "or", "slow", "pubertal", "progression", "." ]

[ 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 ]

[ "These", "factors", "can", "exert", "a", "systemic", "effect", "on", "the", "GH", "/", "IGF-1", "axis", "and", "on", "the", "GnRH", "-", "gonadotropin", "-", "gonadic", "axis", ",", "or", "a", "local", "influence", "on", "the", "growth", "plate", "homeostasis", "and", "function", "." ]

[ 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 ]

[ "Although", "new", "therapeutic", "options", "are", "available", "to", "control", "inflammation", ",", "there", "are", "still", "10", "-", "20", "%", "of", "patients", "with", "severe", "forms", "of", "the", "disease", "who", "show", "continuous", "growth", "impairment", ",", "ending", "in", "a", "short", "final", "stature", "." ]

[ 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 ]

[ "Moreover", ",", "delayed", "puberty", "is", "associated", "with", "a", "reduction", "in", "the", "peak", "bone", "mass", "with", "the", "possibility", "of", "concomitant", "or", "future", "bone", "fragility", "." ]

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

[ "Monitoring", "of", "puberty", "and", "bone", "health", "is", "essential", "for", "a", "complete", "health", "assessment", "of", "adolescents", "with", "JIA", "." ]

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

[ "In", "these", "patients", ",", "an", "assessment", "of", "the", "pubertal", "stage", "every", "6", "months", "from", "the", "age", "of", "9", "years", "is", "recommended", "." ]

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

[ "Also", ",", "linear", "growth", "should", "be", "always", "evaluated", "considering", "the", "patient", "'s", "bone", "age", "." ]

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

[ "The", "impact", "of", "rhGH", "therapy", "in", "children", "with", "JIA", "is", "still", "unclear", ",", "but", "it", "has", "been", "shown", "that", "if", "rhGH", "is", "added", "at", "high", "dose", "in", "a", "low", "-", "inflammatory", "condition", ",", "post", "steroids", "and", "on", "biologic", "therapy", ",", "it", "is", "able", "to", "favor", "a", "prepubertal", "growth", "acceleration", ",", "comparable", "with", "the", "catch", "-", "up", "growth", "response", "in", "GH", "-", "deficient", "patients", "." ]

[ 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, 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", "provide", "a", "comprehensive", "review", "of", "the", "pathogenesis", "of", "puberty", "and", "growth", "disorders", "in", "children", "with", "JIA", ",", "which", "can", "help", "the", "pediatrician", "to", "properly", "and", "timely", "assess", "the", "presence", "of", "growth", "and", "pubertal", "disorders", "in", "JIA", "patients", "." ]

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

[ "Neonatal", "herpes", "simplex", "virus", "(", "HSV", ")", "infection", "is", "rare", ",", "with", "an", "estimated", "incidence", "of", "3.58", "per", "100000.0", "live", "births", "in", "the", "UK", "and", "should", "be", "suspected", "in", "any", "newborn", "with", "fever", "and", "bacterial", "culture", "-", "negative", "sepsis", "." ]

[ 1, 2, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 5, 6, 0, 7, 8, 8, 8, 8, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]