id
stringlengths
1
4
tokens
sequence
ner_tags
sequence
2500
[ "Nonetheless", ",", "5", "of", "11", "ACAN", "mutation", "carries", "had", "no", "advanced", "bone", "age", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2501
[ "Two", "individuals", "received", "growth", "hormone", "therapy", "with", "variable", "levels", "of", "height", "SD", "score", "improvement", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2502
[ "Conclusion", "Our", "data", "suggest", "that", "ACAN", "mutation", "is", "1", "of", "the", "common", "causes", "of", "Chinese", "pediatric", "short", "stature", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 1, 2, 2, 0 ]
2503
[ "Although", "it", "has", "a", "higher", "detection", "rate", "among", "short", "stature", "patients", "with", "advanced", "bone", "age", "and", "family", "history", ",", "part", "of", "affected", "probands", "presented", "with", "delayed", "bone", "age", "in", "Chinese", "short", "stature", "population", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0 ]
2504
[ "The", "growth", "hormone", "treatment", "was", "moderately", "effective", "for", "both", "individuals", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2505
[ "Purpose", "The", "aim", "of", "this", "study", "was", "to", "review", "patients", "with", "xanthogranulomatous", "cholecystitis", "(", "XGC", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 0, 0 ]
2506
[ "Methods", "A", "total", "of", "79", "patients", "diagnosed", "with", "XGC", "were", "included", "in", "the", "study", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0 ]
2507
[ "The", "criteria", "for", "XGC", "in", "the", "pathology", "specimens", "were", "the", "presence", "of", "histiocytes", ",", "cholesterol", "deposits", ",", "lipids", ",", "and", "focal", "or", "widespread", "wall", "enlargement", "." ]
[ 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 ]
2508
[ "Results", "Patients", "were", "diagnosed", "with", "XGC", ",", "of", "which", "52", "(", "65.8", "%", ")", "were", "male", "and", "27", "(", "34.2", "%", ")", "were", "female", ",", "creating", "a", "male", "-", "to", "-", "female", "ratio", "of", "2:1", "." ]
[ 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 13, 0, 0, 0, 13, 0, 0, 0, 0 ]
2509
[ "The", "mean", "age", "was", "65.8", "±", "14.3", "years", "(", "range", ",", "36", "-", "97", "years", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2510
[ "The", "most", "common", "presenting", "symptom", "was", "abdominal", "pain", "(", "63.3", "%", ")", ",", "and", "the", "least", "common", "presenting", "symptom", "was", "jaundice", "(", "8.9", "%", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2511
[ "Of", "the", "total", ",", "25", "patients", "were", "found", "to", "have", "pathological", "conditions", "with", "the", "potential", "to", "obstruct", "the", "bile", "duct", "or", "to", "slow", "bile", "flow", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2512
[ "A", "frozen", "section", "examination", "was", "performed", "on", "20", "patients", "due", "to", "suspicion", "of", "a", "tumor", "by", "intraoperative", "macroscopic", "examination", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2513
[ "However", ",", "no", "malignancy", "was", "detected", "in", "the", "cases", "who", "underwent", "a", "frozen", "section", "examination", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2514
[ "An", "increase", "in", "wall", "thickness", "of", "the", "gallbladder", "was", "observed", "in", "81.6", "%", "(", "n", "=", "31", ")", "of", "the", "patients", "on", "computed", "tomography", "scans", "and", "in", "81.8", "%", "(", "n", "=", "18", ")", "of", "the", "patients", "on", "magnetic", "resonance", "imaging", "scans", "in", "which", "possible", "tumor", "lesions", "were", "reported", ",", "but", "no", "tumor", "was", "detected", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2515
[ "Conclusion", "It", "is", "difficult", "to", "diagnose", "XGC", "either", "preoperatively", "or", "intraoperatively", ",", "and", "further", "imaging", "methods", "are", "needed", "in", "the", "preoperative", "period", "other", "than", "ultrasonography", "." ]
[ 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 ]
2516
[ "However", ",", "a", "definitive", "diagnosis", "depends", "exclusively", "on", "pathologic", "examination", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2517
[ "Adrenocortical", "carcinoma", "(", "ACC", ")", "is", "a", "rare", "endocrine", "malignancy", "arising", "from", "the", "adrenal", "cortex", "often", "with", "unexpected", "biological", "behavior", "." ]
[ 1, 2, 0, 3, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2518
[ "It", "can", "occur", "at", "any", "age", ",", "with", "two", "peaks", "of", "incidence", ":", "in", "the", "first", "and", "between", "fifth", "and", "seventh", "decades", "of", "life", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2519
[ "Although", "ACC", "are", "mostly", "hormonally", "active", ",", "precursors", "and", "metabolites", ",", "rather", "than", "end", "products", "of", "steroidogenesis", "are", "produced", "by", "dedifferentiated", "and", "immature", "malignant", "cells", "." ]
[ 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 ]
2520
[ "Distinguishing", "the", "etiology", "of", "adrenal", "mass", ",", "between", "benign", "adenomas", ",", "which", "are", "quite", "frequent", "in", "general", "population", ",", "and", "malignant", "carcinomas", "with", "dismal", "prognosis", "is", "often", "unfeasible", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2521
[ "Even", "after", "pathohistological", "analysis", ",", "diagnosis", "of", "adrenocortical", "carcinomas", "is", "not", "always", "straightforward", "and", "represents", "a", "great", "challenge", "for", "experienced", "and", "multidisciplinary", "expert", "teams", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2522
[ "No", "single", "imaging", "method", ",", "hormonal", "work", "-", "up", "or", "immunohistochemical", "labelling", "can", "definitively", "prove", "the", "diagnosis", "of", "ACC", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]
2523
[ "Over", "several", "decades", "'", "great", "efforts", "have", "been", "made", "in", "finding", "novel", "reliable", "and", "available", "diagnostic", "and", "prognostic", "factors", "including", "steroid", "metabolome", "profiling", "or", "target", "gene", "identification", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2524
[ "Despite", "these", "achievements", ",", "the", "5", "-", "year", "mortality", "rate", "still", "accounts", "for", "approximately", "75", "%", "to", "90", "%", ",", "ACC", "is", "frequently", "diagnosed", "in", "advanced", "stages", "and", "therapeutic", "options", "are", "unfortunately", "limited", "." ]
[ 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, 0, 0, 0, 0, 0, 0, 0 ]
2525
[ "Therefore", ",", "imperative", "is", "to", "identify", "new", "biological", "markers", "that", "can", "predict", "patient", "prognosis", "and", "provide", "new", "therapeutic", "options", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2526
[ "Background", "Kindler", "poikiloderma", "is", "an", "inherited", "autosomal", "genodermatosis", "characterized", "by", "blistering", "of", "the", "epidermis", "and", "mucosae", "." ]
[ 0, 1, 2, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2527
[ "Its", "prevalence", "is", "unknown", "." ]
[ 0, 5, 0, 7, 0 ]
2528
[ "Case", "report", "We", "monitored", "two", "brothers", "suffering", "from", "this", "pathology", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2529
[ "Oral", "manifestations", "mainly", "take", "the", "form", "of", "periodontal", "lesions", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2530
[ "In", "our", "patients", "we", "noted", "gingivitis", "progressing", "to", "periodontitis", "as", "follow", "-", "up", "care", "was", "not", "effective", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2531
[ "We", "also", "diagnosed", "enamel", "hypoplasia", ",", "described", "more", "rarely", "in", "this", "pathology", "." ]
[ 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0 ]
2532
[ "Conclusion", "Periodontitis", "in", "Kindler", "Syndrome", "responds", "to", "maintenance", "therapy", ",", "but", "the", "absence", "of", "surveillance", "is", "penalized", "by", "a", "deterioration", "in", "periodontal", "condition", "and", "complication", "of", "management", "." ]
[ 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 ]
2533
[ "All", "restorative", ",", "endodontic", ",", "surgical", ",", "periodontal", "and", "orthodontic", "treatments", "should", "be", "performed", "with", "appropriate", "precautions", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2534
[ "Background", "Several", "studies", "have", "shown", "a", "high", "rate", "of", "consanguinity", "and", "endogamy", "in", "North", "African", "populations", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 16, 0, 0 ]
2535
[ "As", "a", "result", ",", "the", "frequency", "of", "autosomal", "recessive", "diseases", "is", "relatively", "high", "in", "the", "region", "with", "the", "co", "-", "occurrence", "of", "two", "or", "more", "diseases", "." ]
[ 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 ]
2536
[ "Methods", "We", "report", "here", "on", "a", "consanguineous", "Libyan", "family", "whose", "child", "was", "initially", "diagnosed", "as", "presenting", "Fanconi", "anemia", "(", "FA", ")", "with", "uncommon", "skeletal", "deformities", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 0, 0, 0, 0, 0, 0 ]
2537
[ "The", "chromosome", "breakage", "test", "has", "been", "performed", "using", "mitomycin", "C", "(", "MMC", ")", "while", "molecular", "analysis", "was", "performed", "by", "a", "combined", "approach", "of", "linkage", "analysis", "and", "whole", "exome", "sequencing", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2538
[ "Results", "Cytogenetic", "analyses", "showed", "that", "the", "karyotype", "of", "the", "female", "patient", "is", "46,XY", "suggesting", "the", "diagnosis", "of", "a", "disorder", "of", "sex", "development", "(", "DSD", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 3, 0, 0 ]
2539
[ "By", "looking", "at", "the", "genetic", "etiology", "of", "FA", "and", "DSD", ",", "we", "have", "identified", "p.[Arg798*];[Arg798", "*", "]", "mutation", "in", "FANCJ", "(", "OMIM", "#", "605882", ")", "gene", "responsible", "for", "FA", "and", "p.[Arg108*];[Arg1497Trp", "]", "in", "EFCAB6", "(", "Gene", "#", "64800", ")", "gene", "responsible", "for", "DSD", "." ]
[ 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, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]
2540
[ "In", "addition", ",", "we", "have", "incidentally", "discovered", "a", "novel", "mutation", "p.[Gly1372Arg];[Gly1372Arg", "]", "in", "the", "ERCC6", "(", "CSB", ")", "(", "OMIM", "#", "609413", ")", "gene", "responsible", "for", "COFS", "that", "might", "explain", "the", "atypical", "severe", "skeletal", "deformities", "." ]
[ 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0 ]
2541
[ "Conclusion", "The", "co", "-", "occurrence", "of", "clinical", "and", "overlapping", "genetic", "heterogeneous", "entities", "should", "be", "taken", "into", "consideration", "for", "better", "molecular", "and", "genetic", "counseling", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2542
[ "Pyridoxine", "-", "dependent", "epilepsy", "(", "PDE", ")", "is", "a", "potentially", "treatable", "vitamin", "-", "responsive", "epileptic", "encephalopathy", "." ]
[ 1, 2, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2543
[ "The", "most", "prevalent", "form", "of", "PDE", "is", "due", "to", "an", "underlying", "genetic", "defect", "in", "ALDH7A1", "encoding", "Antiquitin", "(", "ATQ", ")", ",", "an", "enzyme", "with", "α", "-", "aminoadipic", "semialdehyde", "dehydrogenase", "(", "AASADH", ")", "activity", "which", "facilitates", "cerebral", "lysine", "degradation", "." ]
[ 0, 0, 5, 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 ]
2544
[ "Devastating", "outcomes", "including", "intellectual", "disability", "and", "significant", "developmental", "delays", "are", "still", "observed", "in", "75", "%", "to", "80", "%", "of", "pyridoxine", "responsive", "individuals", "with", "good", "seizure", "control", ",", "potentially", "attributable", "to", "the", "accumulation", "of", "toxic", "intermediates", "α", "-", "aminoadipic", "semialdehyde", "(", "AASA", ")", "and", "its", "cyclic", "form", "Δ", "1", "-piperideine-6", "-", "carboxylate", "(", "P6C", ")", "in", "plasma", ",", "urine", "and", "CSF", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2545
[ "Thus", ",", "adjunct", "treatment", "strategies", "incorporating", "lysine", "restriction", "and", "arginine", "supplementation", ",", "separately", "or", "in", "combination", "with", "pyridoxine", "have", "been", "attempted", "to", "enhance", "seizure", "control", "and", "improve", "cognitive", "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 ]
2546
[ "We", "describe", "a", "4", "year", "old", "girl", "with", "classical", "PDE", "who", "demonstrated", "significant", "improvements", "in", "clinical", ",", "neurological", "and", "developmental", "outcomes", "including", "absence", "of", "clinical", "seizures", "and", "cessation", "of", "antiepileptic", "medications", "since", "age", "3", "months", ",", "normalisation", "of", "EEG", ",", "significant", "improvement", "in", "the", "white", "matter", "signal", "throughout", "the", "cerebrum", "on", "neuroimaging", "and", "significant", "reduction", "in", "urine", "P6C", "and", "pipecolic", "acid", "levels", "post-", "combined", "therapy", "with", "lysine", "restricted", "diet", "in", "conjunction", "with", "pyridoxine", "and", "folinic", "acid", "." ]
[ 0, 0, 0, 0, 0, 0, 13, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2547
[ "Lysine", "restriction", "was", "well", "tolerated", "with", "impressive", "compliance", "and", "plasma", "lysine", "levels", "remained", "within", "the", "lower", "reference", "ranges", ";", "mean", "level", "70", "μmol", "/", "L", "(", "ref", "range", "52", "-", "196", "μmol", "/", "L", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2548
[ "This", "case", "further", "emphasizes", "the", "benefit", "of", "early", "dietary", "intervention", "as", "an", "effective", "adjunct", "in", "the", "management", "of", "PDE", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]
2549
[ "Neonatal", "herpes", "simplex", "virus", "infection", "(", "HSV", ")", "is", "rare", "in", "neonates", ",", "with", "an", "estimated", "global", "incidence", "of", "10", "per", "100,000", "live", "births", "." ]
[ 1, 2, 2, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 5, 0, 7, 8, 8, 8, 8, 0 ]
2550
[ "Neonatal", "HSV", "is", "challenging", "to", "diagnose", "due", "to", "often", "vague", "signs", "and", "symptoms", "." ]
[ 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2551
[ "Untreated", ",", "the", "mortality", "of", "some", "HSV", "subtypes", "exceeds", "80", "%", "." ]
[ 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0 ]
2552
[ "Overtesting", "and", "overtreatment", "can", "result", "in", "prolonged", "hospitalizations", "and", "expose", "neonates", "to", "medication", "toxicity", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2553
[ "In", "contrast", ",", "prompt", "evaluation", "and", "use", "of", "empiric", "antiviral", "therapy", "before", "the", "results", "of", "definitive", "testing", "can", "improve", "outcomes", "for", "infants", "with", "HSV", "." ]
[ 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 ]
2554
[ "A", "wide", "degree", "of", "practice", "variation", "exists", "with", "respect", "to", "testing", "and", "treatment", "for", "neonatal", "HSV", ",", "and", "more", "research", "is", "required", "to", "safely", "risk", "-", "stratify", "this", "population", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2555
[ "This", "review", "presents", "the", "epidemiology", ",", "risk", "factors", ",", "presenting", "features", ",", "and", "emergency", "department", "management", "of", "neonatal", "HSV", "infection", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0 ]
2556
[ "Since", "it", "was", "first", "documented", "in", "1948", "by", "Sir", "William", "Heneage", "Ogilvie", ",", "numerous", "cases", "of", "Ogilvie", "syndrome", "have", "been", "described", "in", "literature", "due", "to", "various", "medical", "and", "surgical", "causes", "." ]
[ 0, 0, 0, 0, 0, 0, 11, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2557
[ "Nonetheless", ",", "only", "a", "handful", "of", "cases", "only", "have", "been", "documented", "due", "to", "underlying", "Acquired", "Immunodeficiency", "Syndrome", "(", "AIDS", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 3, 0, 0 ]
2558
[ "A", "41", "-", "year", "-", "old", "female", "was", "admitted", "with", "an", "acute", "abdomen", "secondary", "to", "partial", "mechanical", "intestinal", "obstruction", "or", "paralytic", "ileus", "based", "on", "signs", "and", "symptoms", "and", "Abdominal", "X", "-", "Ray", "(", "AXR", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2559
[ "She", "was", "known", "to", "be", "HIV", "/", "AIDS", "WHO", "clinical", "stage", "II", "on", "treatment", "." ]
[ 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 0, 0 ]
2560
[ "On", "diagnostic", "imaging", "studies", "she", "had", "distended", "large", "bowels", "without", "features", "of", "mechanical", "intestinal", "obstruction", "and", "the", "diagnosis", "of", "Ogilvie", "syndrome", "was", "suspected", "after", "other", "differentials", "were", "excluded", "." ]
[ 0, 0, 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, 0, 0 ]
2561
[ "Early", "recognition", "and", "appropriate", "management", "are", "essential", ",", "because", "if", "left", "untreated", "the", "bowel", "distension", "may", "progress", "to", "caecal", "perforation", "and", "fatal", "peritonitis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2562
[ "Medical", "imaging", "with", "Computer", "Tomography", "(", "CT", ")", "scan", "and", "colonoscopy", "has", "helped", "in", "achieving", "an", "accurate", "diagnosis", "and", "avoiding", "unnecessary", "laparotomies", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2563
[ "Although", "an", "uncommon", "disorder", ",", "for", "earlier", "and", "accurate", "diagnosis", "a", "high", "index", "of", "suspicion", "is", "required", "by", "clinicians", "and", "radiologists", "who", "are", "treating", "patients", "with", "underlying", "HIV", "/", "AIDS", "." ]
[ 0, 0, 0, 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, 4, 4, 0 ]
2564
[ "Ogilvie", "'s", "syndrome", "is", "a", "rare", "condition", "and", "if", "missed", "can", "be", "fatal", "." ]
[ 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2565
[ "In", "patients", "with", "HIV", "/", "AIDS", ",", "the", "symptoms", "may", "be", "directly", "due", "to", "HIV", "infection", ",", "secondary", "to", "opportunistic", "infections", "or", "possible", "neurotoxic", "effects", "of", "HIV", "treatment", "or", "lack", "of", "vitamin", "and", "minerals", "." ]
[ 0, 0, 0, 3, 4, 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 ]
2566
[ "It", "is", "important", "to", "exclude", "Ogilvie", "syndrome", "in", "patients", "from", "surgical", "causes", "of", "the", "acute", "abdomen", "to", "avoid", "unnecessary", "surgical", "procedures", "." ]
[ 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2567
[ "Pathogenic", "variants", "in", "the", "fibroblast", "growth", "factor", "receptor", "3", "(", "FGFR3", ")", "gene", "are", "responsible", "for", "a", "broad", "spectrum", "of", "skeletal", "dysplasias", ",", "including", "achondroplasia", "(", "ACH", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 1, 0, 3, 0, 0 ]
2568
[ "The", "classic", "phenotype", "of", "ACH", "is", "caused", "by", "two", "highly", "prevalent", "mutations", ",", "c.1138", "G", ">", "A", "and", "c.1138", "G", ">", "C", "(", "p.", "Gly380Arg", ")", "." ]
[ 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 ]
2569
[ "In", "the", "homozygous", "state", ",", "these", "variant", "results", "in", "a", "severe", "skeletal", "dysplasia", ",", "neurologic", "deficits", ",", "and", "early", "demise", "from", "respiratory", "insufficiency", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 0, 0, 1, 2, 0, 0, 0, 0 ]
2570
[ "Although", "homozygous", "biallelic", "mutations", "have", "been", "reported", "in", "patients", "with", "ACH", "in", "combination", "with", "hypochondroplasia", "or", "other", "dominant", "skeletal", "dysplasias", ",", "thus", "far", ",", "no", "cases", "of", "heterozygous", "biallelic", "pathogenic", "ACH", "-", "related", "variants", "in", "FGFR3", "have", "been", "reported", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 1, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2571
[ "We", "describe", "a", "novel", "phenotype", "of", "an", "infant", "with", "two", "ACH", "-", "related", "mutations", "in", "FGFR3", ",", "p.", "Gly380Arg", "and", "p.", "Ser344Cys", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2572
[ "Discordant", "features", "from", "classic", "ACH", "include", "atypical", "radiographic", "findings", ",", "severe", "obstructive", "sleep", "apnea", ",", "and", "focal", ",", "migrating", "seizures", "." ]
[ 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2573
[ "We", "also", "report", "the", "long", "-", "term", "clinical", "course", "of", "her", "father", ",", "who", "harbors", "the", "p.", "Ser344Cys", "mutation", "that", "has", "only", "been", "reported", "once", "previously", "in", "a", "Japanese", "patient", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0 ]
2574
[ "The", "phenotype", "of", "heterozygous", "biallelic", "mutations", "in", "FGFR3", "associated", "with", "ACH", "is", "variable", ",", "underscoring", "the", "importance", "of", "recognition", "and", "accurate", "diagnosis", "to", "ensure", "appropriate", "management", "." ]
[ 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 ]
2575
[ "The", "temperate", "United", "States", "has", "experienced", "increasing", "incidence", "of", "mosquito", "-", "borne", "diseases", "." ]
[ 0, 0, 9, 10, 0, 0, 0, 5, 0, 1, 2, 2, 2, 0 ]
2576
[ "Recent", "studies", "conducted", "in", "Baltimore", ",", "MD", "have", "demonstrated", "a", "negative", "relationship", "between", "abundances", "of", "Aedes", "albopictus", "(", "Skuse", ")", "and", "Culex", "mosquitoes", "and", "mean", "neighborhood", "income", "level", ",", "but", "have", "not", "looked", "at", "the", "presence", "of", "pathogens", "." ]
[ 0, 0, 0, 0, 9, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2577
[ "Mosquitoes", "collected", "from", "five", "socioeconomically", "variable", "neighborhoods", "were", "tested", "for", "infection", "by", "West", "Nile", ",", "chikungunya", ",", "and", "Zika", "viruses", "in", "2015", "and", "2016", ",", "and", "again", "from", "four", "of", "the", "neighborhoods", "in", "2017", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 0 ]
2578
[ "Minimum", "infection", "rates", "of", "pooled", "samples", "were", "compared", "among", "neighborhoods", "for", "each", "year", ",", "as", "well", "as", "among", "individual", "blocks", "in", "2017", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 0 ]
2579
[ "West", "Nile", "virus", "was", "detected", "in", "both", "Ae", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2580
[ "albopictus", "and", "Culex", "pools", "from", "all", "neighborhoods", "sampled", "in", "2015", "and", "2017", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 0 ]
2581
[ "No", "infected", "pools", "were", "detected", "in", "any", "year", "for", "chikungunya", "or", "Zika", "viruses", ",", "and", "none", "of", "the", "target", "viruses", "were", "detected", "in", "2016", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 0 ]
2582
[ "Infection", "rates", "were", "consistently", "higher", "for", "Culex", "than", "for", "Ae", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2583
[ "albopictus", "." ]
[ 0, 0 ]
2584
[ "Minimum", "infection", "rate", "was", "negatively", "associated", "with", "mean", "neighborhood", "income", "for", "both", "species", "in", "2015", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 0 ]
2585
[ "Although", "earlier", "work", "has", "shown", "a", "positive", "association", "between", "block", "-", "level", "abandonment", "and", "mosquito", "abundance", ",", "no", "association", "was", "detected", "in", "this", "study", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2586
[ "Still", ",", "we", "demonstrate", "that", "viral", "infection", "in", "mosquito", "pools", "can", "differ", "substantially", "across", "adjacent", "urban", "neighborhoods", "that", "vary", "by", "income", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2587
[ "Though", "trap", "security", "and", "accessibility", "often", "inform", "city", "sampling", "locations", ",", "detecting", "and", "managing", "arboviral", "risk", "requires", "surveillance", "across", "neighborhoods", "that", "vary", "in", "socioeconomics", ",", "including", "lower", "income", "areas", "that", "may", "be", "less", "accessible", "and", "secure", "but", "have", "higher", "infection", "rates", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2588
[ "Li", "-", "Fraumeni", "syndrome", "(", "LFS", ")", "is", "an", "inherited", "cancer", "syndrome", ",", "characterized", "by", "an", "early", "onset", "of", "various", "types", "of", "cancers", "." ]
[ 1, 2, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2589
[ "LFS", "is", "associated", "with", "a", "germline", "mutation", "in", "the", "TP53", "gene", "." ]
[ 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2590
[ "The", "risk", "of", "developing", "skin", "cancer", "in", "patients", "with", "LFS", "is", "unknown", "." ]
[ 0, 0, 0, 0, 1, 2, 0, 0, 0, 3, 0, 0, 0 ]
2591
[ "To", "evaluate", "the", "cumulative", "risk", "of", "skin", "cancer", "in", "patients", "with", "LFS", "and", "to", "compare", "this", "risk", "to", "the", "general", "Dutch", "population", "." ]
[ 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0 ]
2592
[ "In", "this", "retrospective", "cohort", "study", ",", "all", "proven", "TP53", "mutation", "carriers", "in", "the", "Netherlands", "Cancer", "Institute", "were", "included", "from", "their", "first", "visit", "to", "the", "Institute", "until", "June", "2017", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 11, 12, 12, 12, 12, 12, 12, 12, 12, 12, 0 ]
2593
[ "Medical", "charts", "and", "pathology", "reviews", "cross", "-", "referenced", "with", "PALGA", ",", "the", "nationwide", "network", "and", "registry", "of", "histo-", "and", "cytopathology", "were", "used", "to", "identify", "incident", "skin", "cancers", "." ]
[ 0, 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, 0 ]
2594
[ "Cumulative", "risks", "were", "calculated", "by", "Kaplan", "-", "Meier", "analysis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2595
[ "Seventy", "-", "one", "patients", "(", "59", "%", "female", ")", "from", "33", "families", "were", "included", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0 ]
2596
[ "Ten", "patients", "(", "14", "%", ")", "developed", "a", "total", "of", "19", "skin", "cancers", "at", "a", "median", "age", "of", "41", "(", "25", "-", "65", ")", "years", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2597
[ "The", "cumulative", "risk", "of", "skin", "cancer", "is", "10.4", "%", "(", "95", "%", "CI", "4.4", "-", "23.5", "%", ")", "at", "age", "40", ",", "25.2", "%", "(", "95", "%", "CI", "12.3", "-", "47.6", "%", ")", "at", "age", "60", ",", "and", "a", "at", "age", "70", "this", "risk", "is", "44.6", "%", "(", "95", "%", "CI", "22.9", "-", "73.9", "%", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2598
[ "The", "cumulative", "risks", "of", "melanoma", "and", "basal", "cell", "carcinoma", "at", "age", "70", "are", "increased", "compared", "to", "the", "general", "Dutch", "population", ",", "namely", "12.6", "%", "(", "95", "%", "CI", "3.6", "-", "38.4", "%", ")", "and", "34.6", "%", "(", "95", "%", "CI", "15.4", "-", "66.2", "%", ")", ",", "respectively", "." ]
[ 0, 0, 0, 0, 1, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2599
[ "Patients", "with", "LFS", "have", "an", "increased", "risk", "of", "developing", "skin", "cancer", "." ]
[ 0, 0, 3, 0, 0, 0, 0, 0, 0, 1, 1, 0 ]