id
stringlengths
1
4
tokens
sequence
ner_tags
sequence
1500
[ "DTD", "is", "caused", "by", "mutations", "in", "SLC26A2", "and", "is", "particularly", "common", "in", "the", "Finnish", "population", "." ]
[ 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0 ]
1501
[ "However", ",", "the", "disease", "incidence", "in", "Finland", "and", "clinical", "features", "in", "affected", "individuals", "have", "not", "been", "recently", "explored", "." ]
[ 0, 0, 0, 0, 5, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1502
[ "This", "registry", "-", "based", "study", "aimed", "to", "investigate", "the", "current", "incidence", "of", "DTD", "in", "Finland", ",", "characterize", "the", "national", "cohort", "of", "pediatric", "subjects", "with", "DTD", "and", "review", "the", "disease", "-", "related", "literature", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 3, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0 ]
1503
[ "Subjects", "with", "SLC26A2", "-related", "skeletal", "dysplasia", ",", "born", "between", "2000", "and", "2020", ",", "were", "identified", "from", "the", "Skeletal", "dysplasia", "registry", "and", "from", "hospital", "patient", "registry", "and", "their", "clinical", "and", "molecular", "data", "were", "reviewed", "." ]
[ 0, 0, 1, 2, 2, 2, 0, 0, 11, 12, 12, 12, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1504
[ "Fourteen", "subjects", "were", "identified", "." ]
[ 0, 0, 0, 0, 0 ]
1505
[ "Twelve", "of", "them", "were", "phenotypically", "classified", "as", "DTD", "and", "two", ",", "as", "recessive", "multiple", "epiphyseal", "dysplasia", "(", "rMED", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 1, 2, 2, 2, 0, 1, 0, 0 ]
1506
[ "From", "the", "subjects", "with", "available", "genetic", "data", ",", "75", "%", "(", "9/12", ")", "were", "homozygous", "for", "the", "Finnish", "founder", "mutation", "c.-26", "+", "2T", ">", "C." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0 ]
1507
[ "Two", "subjects", "with", "rMED", "phenotype", "were", "compound", "heterozygous", "for", "p.", "Arg279Trp", "and", "p.", "Thr512Lys", "variants", "." ]
[ 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1508
[ "The", "variable", "phenotypes", "in", "our", "cohort", "highlight", "the", "wide", "spectrum", "of", "clinical", "features", ",", "ranging", "from", "a", "very", "severe", "form", "of", "DTD", "to", "milder", "forms", "of", "DTD", "and", "rMED", "." ]
[ 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, 3, 0, 3, 0 ]
1509
[ "The", "incidence", "of", "DTD", "in", "Finland", "has", "significantly", "decreased", "over", "the", "past", "decades", ",", "most", "likely", "due", "to", "increased", "prenatal", "diagnostics", "." ]
[ 0, 5, 0, 3, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1510
[ "The", "relationship", "between", "autoinflammatory", "and", "autoimmune", "conditions", "has", "been", "demonstrated", "in", "recent", "decades", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1511
[ "Several", "autoimmune", "conditions", "exhibit", "an", "autoinflammatory", "component", ",", "which", "can", "manifest", "in", "various", "ways", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1512
[ "Neutrophilic", "dermatosis", "in", "the", "context", "of", "lupus", "erythematosus", "(", "LE", ")", "is", "one", "example", "." ]
[ 1, 2, 0, 0, 0, 0, 1, 2, 0, 3, 0, 0, 0, 0, 0 ]
1513
[ "Otherwise", ",", "neutrophils", "are", "rare", "in", "LE", ",", "except", "for", "the", "bullous", "variant", "and", "nonbullous", "neutrophilic", "LE", "." ]
[ 0, 0, 1, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]
1514
[ "In", "this", "paper", ",", "we", "describe", "a", "case", "of", "scarring", "alopecia", "due", "to", "LE", "that", "stopped", "responding", "to", "a", "treatment", "that", "had", "been", "effective", "for", "years", "." ]
[ 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 ]
1515
[ "The", "biopsy", "specimen", "demonstrated", "the", "presence", "of", "neutrophils", "in", "the", "inflammatory", "infiltrate", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1516
[ "A", "treatment", "with", "dapsone", "was", "prescribed", "and", "yielded", "rapid", "improvement", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1517
[ "This", "first", "case", "of", "scarring", "alopecia", "in", "the", "context", "of", "nonbullous", "neutrophilic", "LE", "emphasizes", "the", "importance", "of", "the", "infiltrate", "in", "determining", "the", "optimal", "therapeutic", "choice", "." ]
[ 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 ]
1518
[ "Aims", "Medullary", "carcinoma", "is", "an", "uncommon", "colorectal", "tumour", "which", "appears", "poorly", "differentiated", "histologically", "." ]
[ 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1519
[ "Consequently", ",", "it", "may", "be", "confused", "with", "poorly", "differentiated", "adenocarcinoma", "not", "otherwise", "specified", "(", "NOS", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1520
[ "The", "principal", "aim", "of", "this", "study", "was", "to", "review", "a", "large", "series", "of", "poorly", "differentiated", "colorectal", "cancers", "resected", "at", "a", "large", "National", "Health", "Service", "(", "NHS", ")", "Teaching", "Hospital", "to", "determine", "how", "often", "medullary", "carcinomas", "were", "misclassified", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0 ]
1521
[ "Secondary", "aims", "were", "to", "investigate", "how", "often", "neuroendocrine", "differentiation", "or", "metastatic", "tumours", "were", "considered", "in", "the", "differential", "diagnosis", ",", "and", "compare", "clinico", "-", "pathological", "features", "between", "medullary", "and", "poorly", "differentiated", "adenocarcinoma", "NOS", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1522
[ "Methods", "and", "results", "Histology", "slides", "from", "302", "colorectal", "cancer", "resections", "originally", "reported", "as", "poorly", "differentiated", "adenocarcinoma", "were", "reviewed", "and", "cases", "fulfilling", "World", "Health", "Organisation", "(", "WHO", ")", "criteria", "for", "medullary", "carcinoma", "identified", "." ]
[ 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, 1, 2, 0, 0 ]
1523
[ "The", "original", "pathology", "report", "was", "examined", "for", "any", "mention", "of", "medullary", "phenotype", ",", "consideration", "of", "neuroendocrine", "differentiation", "or", "consideration", "of", "metastasis", "from", "another", "site", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1524
[ "Clinico", "-", "pathological", "features", "were", "compared", "to", "poorly", "differentiated", "adenocarcinoma", "NOS", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1525
[ "Only", "one", "-", "third", "of", "medullary", "carcinomas", "were", "correctly", "identified", "between", "1997", "and", "2018", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 12, 0 ]
1526
[ "The", "other", "two", "-", "thirds", "were", "reported", "as", "poorly", "differentiated", "adenocarcinoma", "NOS", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1527
[ "The", "possibility", "of", "an", "extracolonic", "origin", "or", "neuroendocrine", "carcinoma", "was", "considered", "in", "21", "and", "27", "%", "of", "reports", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1528
[ "Most", "medullary", "carcinomas", "exhibited", "mismatch", "repair", "deficiency", ",", "were", "located", "in", "ascending", "colon", "and", "caecum", "and", "had", "a", "lower", "rate", "of", "vascular", "channel", "invasion", "and", "lymph", "node", "metastasis", "compared", "to", "poorly", "differentiated", "adenocarcinoma", "." ]
[ 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 ]
1529
[ "Conclusions", "Medullary", "carcinoma", "of", "the", "colon", "is", "often", "mistaken", "for", "poorly", "differentiated", "adenocarcinoma", "NOS", "and", "occasionally", "for", "neuroendocrine", "or", "metastatic", "carcinoma", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1530
[ "Greater", "familiarity", "with", "morphological", "criteria", "and", "use", "of", "mismatch", "repair", "protein", "staining", "should", "improve", "diagnosis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1531
[ "Sweden", "has", "one", "neonatal", "screening", "laboratory", ",", "receiving", "115", "to", "120", "thousand", "samples", "per", "year", "." ]
[ 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1532
[ "Among", "the", "one", "million", "babies", "screened", "by", "tandem", "mass", "spectrometry", "from", "November", "2010", "until", "July", "2019", ",", "a", "total", "of", "665", "babies", "were", "recalled", "and", "311", "verified", "as", "having", "one", "of", "the", "diseases", "screened", "for", "with", "this", "methodology", ",", "giving", "a", "positive", "predictive", "value", "(", "PPV", ")", "of", "47", "%", "and", "an", "incidence", "of", "1:3200", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 12, 12, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 7, 0 ]
1533
[ "The", "PPV", "was", "high", "(", "41", "%", ")", "already", "in", "the", "first", "year", "after", "start", "of", "screening", ",", "thanks", "to", "the", "availability", "of", "the", "collaborative", "project", "Region", "4", "Stork", "database", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1534
[ "The", "PPV", "is", "presently", "58", "%", "." ]
[ 0, 0, 0, 0, 0, 0, 0 ]
1535
[ "This", "improvement", "was", "achieved", "by", "the", "implementation", "of", "second", "-", "tier", "analyses", "in", "the", "screening", "for", "methylmalonic", "aciduria", ",", "propionic", "aciduria", ",", "isovaleric", "aciduria", ",", "and", "homocystinuria", ",", "and", "the", "employment", "of", "various", "post", "analytical", "tools", "of", "the", "Region", "4", "Stork", ",", "and", "its", "successor", "the", "collaborative", "laboratory", "integrated", "reports", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0, 1, 2, 0, 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 ]
1536
[ "Aims", "To", "review", "and", "present", "the", "current", "knowledge", "of", "incidence", ",", "signs", "and", "symptoms", ",", "diagnosis", "and", "treatment", "of", "the", "occipital", "encephalocele", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0 ]
1537
[ "Background", "Encephalocele", "(", "E", ")", "is", "a", "defect", "of", "the", "neural", "tube", "that", "refers", "to", "congenital", "malformations", "featured", "by", "skull", "defect", "and", "dura", "with", "extracranial", "spread", "of", "intracranial", "structures", "." ]
[ 0, 1, 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 ]
1538
[ "Occipital", "encephalocele", "(", "OE", ")", "are", "the", "most", "common", "form", "of", "this", "congenital", "disorder", "and", "are", "manifested", "as", "a", "swelling", "of", "different", "sizes", "over", "the", "occipital", "bone", "in", "the", "midline", "." ]
[ 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, 0, 0, 0, 0, 0 ]
1539
[ "Proper", "diagnosis", "and", "treatment", "is", "highly", "important", "in", "the", "management", "of", "this", "congenital", "malformation", "of", "brain", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1540
[ "Objective", "To", "review", "and", "present", "the", "current", "knowledge", "of", "incidence", ",", "signs", "and", "symptoms", ",", "diagnosis", "and", "treatment", "of", "the", "occipital", "encephalocele", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0 ]
1541
[ "Methods", "We", "conducted", "a", "search", "of", "case", "reports", "or", "case", "-", "series", "of", "patients", "by", "the", "use", "of", "electronic", "databases", ":", "Pub", "Med", ",", "Medline", ",", "Index", "Medicus", ",", "Scorpus", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1542
[ "The", "key", "words", "were", ":", "encephalocele", ",", "occipital", "encephalocele", ",", "neural", "tube", "defect", ",", "congenital", "malformation", "." ]
[ 0, 0, 0, 0, 0, 1, 0, 1, 2, 0, 1, 2, 2, 0, 1, 2, 0 ]
1543
[ "The", "search", "was", "updated", "to", "December", "31", ",", "2018", "." ]
[ 0, 0, 0, 0, 0, 11, 12, 12, 12, 0 ]
1544
[ "Papers", "published", "in", "English", "were", "the", "only", "source", "of", "information", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1545
[ "Results", "Occipital", "encephalocelle", "are", "more", "frequent", "in", "females", "than", "in", "males", "." ]
[ 0, 1, 2, 0, 0, 0, 0, 13, 0, 0, 13, 0 ]
1546
[ "The", "incidence", "is", "between", "1", "in", "3000", "to", "1", "in", "10,000", "live", "births", ";", "approximately", "90", "%", "of", "them", "involve", "the", "midline", "." ]
[ 0, 5, 0, 7, 8, 8, 8, 8, 8, 8, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1547
[ "Magnetic", "resonance", "imaging", "is", "the", "method", "of", "choice", "in", "diagnosis", "and", "surgery", "is", "the", "best", "option", "for", "the", "treatment", "of", "OE", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1548
[ "Overall", "morbidity", "and", "mortality", "is", "still", "high", "in", "spite", "of", "advenced", "surgical", "management", ",", "but", "have", "been", "significantly", "improved", "in", "recent", "years", "thanks", "to", "sophisticated", "highresolution", "imaging", ",", "adequate", "and", "proper", "surgical", "treatment", "and", "decent", "post", "-", "operative", "care", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1549
[ "Conclusion", "Occipital", "encephalocele", "is", "the", "most", "common", "form", "of", "encephalocele", "." ]
[ 0, 1, 2, 0, 0, 0, 0, 0, 0, 1, 0 ]
1550
[ "The", "diagnosis", "is", "mostly", "based", "by", "the", "use", "of", "neuroimaging", "techniques", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1551
[ "Operation", "is", "the", "best", "option", "for", "treatment", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0 ]
1552
[ "Overall", "morbidity", "and", "mortality", "is", "still", "high", ",", "but", "have", "been", "significantly", "improved", "in", "recent", "years", "thanks", "to", "sophisticated", "high", "-", "resolution", "imaging", ",", "adequate", "and", "proper", "surgical", "treatment", "and", "decent", "post", "-", "operative", "care", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1553
[ "This", "article", "reports", "the", "intent", "to", "receive", "a", "SARS", "-", "COV-2", "vaccine", ",", "its", "predictors", "and", "willingness", "to", "pay", "in", "Bangladesh", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0 ]
1554
[ "We", "carried", "out", "an", "online", "cross", "-", "sectional", "survey", "of", "697", "adults", "from", "the", "general", "population", "of", "Bangladesh", "in", "January", "2021", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 11, 12, 0 ]
1555
[ "A", "structured", "questionnaire", "was", "used", "to", "assess", "vaccination", "intent", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1556
[ "The", "questionnaire", "included", "sociodemographic", "variables", "and", "health", "belief", "model", "constructs", "which", "may", "predict", "vaccination", "intent", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1557
[ "Among", "the", "participants", ",", "26", "%", "demonstrated", "a", "definite", "intent", ",", "43", "%", "probable", "intent", ",", "24", "%", "probable", "negative", ",", "and", "7", "%", "a", "definite", "negative", "intention", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1558
[ "Multivariable", "logistic", "regression", "analyses", "suggest", "an", "association", "between", "definite", "intent", "and", "previous", "COVID-19", "infection", "(", "OR", ":", "2.86", ";", "95", "%", "CI", ":", "1.71", "-", "4.78", ")", ",", "perceiving", "COVID-19", "as", "serious", "(", "OR", ":", "1.93", ";", "1.04", "-", "3.59", ")", ",", "the", "belief", "that", "vaccination", "would", "make", "them", "feel", "less", "worried", "about", "catching", "COVID-19", "(", "OR", ":", "4.42", ";", "2.25", "-", "8.68", ")", ",", "and", "concerns", "about", "vaccine", "affordability", "(", "OR", ":", "1.51", ";", "1.01", "-", "2.25", ")", "." ]
[ 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, 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, 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 ]
1559
[ "Individuals", "afraid", "of", "the", "side", "effects", "(", "OR", ":", "0.34", ";", "0.21", "-", "0.53", ")", "and", "those", "who", "would", "take", "the", "vaccine", "if", "the", "vaccine", "were", "taken", "by", "many", "others", "(", "OR", ":", "0.44", ";", "0.29", "-", "0.67", ")", "are", "less", "likely", "to", "have", "a", "definite", "intent", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1560
[ "A", "definite", "negative", "intent", "is", "associated", "with", "the", "concern", "that", "the", "vaccine", "may", "not", "be", "halal", "(", "OR", ":", "2.03", ";", "1.04", "-", "3.96", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1561
[ "Furthermore", ",", "68.4", "%", "are", "willing", "to", "pay", "for", "the", "vaccine", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1562
[ "The", "median", "amount", "that", "they", "are", "willing", "to", "pay", "is", "USD", "7.08", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1563
[ "The", "study", "findings", "reveal", "that", "the", "definite", "intent", "to", "receive", "the", "SARS", "-", "CoV-2", "vaccination", "among", "the", "general", "population", "varies", "depending", "on", "their", "COVID-19", "-", "related", "health", "beliefs", "and", "no", "significant", "association", "was", "found", "with", "sociodemographic", "variables", "." ]
[ 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, 0, 0, 0, 0, 0 ]
1564
[ "Overlapping", "syndromes", "such", "as", "Noonan", ",", "Cardio", "-", "Facio", "-", "Cutaneous", ",", "Noonan", "syndrome", "(", "NS", ")", "with", "multiple", "lentigines", "and", "Costello", "syndromes", "are", "genetically", "heterogeneous", "conditions", "sharing", "a", "dysregulation", "of", "the", "RAS", "/", "mitogen", "-", "activated", "protein", "kinase", "(", "MAPK", ")", "pathway", "and", "are", "known", "collectively", "as", "the", "RASopathies", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1565
[ "PTPN11", "was", "the", "first", "disease", "-", "causing", "gene", "identified", "in", "NS", "and", "remains", "the", "more", "prevalent", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 5, 0 ]
1566
[ "We", "report", "seven", "patients", "from", "three", "families", "presenting", "heterozygous", "missense", "variants", "in", "PTPN11", "probably", "responsible", "for", "a", "disease", "phenotype", "distinct", "from", "the", "classical", "Noonan", "syndrome", "." ]
[ 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 ]
1567
[ "The", "clinical", "presentation", "and", "common", "features", "of", "these", "seven", "cases", "overlap", "with", "the", "SHORT", "syndrome", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0 ]
1568
[ "The", "latter", "is", "the", "consequence", "of", "PI3K", "/", "AKT", "signaling", "deregulation", "with", "the", "predominant", "disease", "-", "causing", "gene", "being", "PIK3R1", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1569
[ "Our", "data", "suggest", "that", "the", "phenotypic", "spectrum", "associated", "with", "pathogenic", "variants", "of", "PTPN11", "could", "be", "wider", "than", "previously", "described", ",", "and", "this", "could", "be", "due", "to", "the", "dual", "activity", "of", "SHP2", "(", "ie", ",", "PTPN11", "gene", "product", ")", "on", "the", "RAS", "/", "MAPK", "and", "PI3K", "/", "AKT", "signaling", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1570
[ "Background", "Consanguineous", "marriages", "are", "common", "in", "the", "Middle", "East", "including", "the", "Gulf", "countries", "." ]
[ 0, 0, 0, 0, 0, 0, 9, 10, 10, 0, 0, 9, 0, 0 ]
1571
[ "The", "rate", "of", "consanguinity", "in", "Qatar", "is", "approximately", "54", "%", ",", "which", "are", "mainly", "first", "cousins", "'", "marriages", "." ]
[ 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1572
[ "Previous", "studies", "showed", "that", "consanguinity", "increases", "the", "prevalence", "of", "birth", "defects", "and", "other", "genetic", "disorders", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0 ]
1573
[ "Thus", ",", "we", "studied", "the", "effects", "of", "consanguinity", "in", "a", "cohort", "of", "subjects", "with", "certain", "genetic", "disorders", "in", "Qatar", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0 ]
1574
[ "Methods", "This", "cross", "-", "sectional", "study", "was", "conducted", "at", "two", "centers", "in", "Qatar", "(", "Hamad", "Medical", "Corporation", "HMC", "and", "Shafallah", "SC", ")", "including", "599", "Qatari", "families", "with", "certain", "types", "of", "genetic", "and", "nongenetic", "anomalies", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1575
[ "Results", "Consanguineous", "marriages", "were", "seen", "in", "397", "of", "599", "(", "66.2", "%", ")", "Qatari", "families", "and", "first", "cousin", "group", "counts", "for", "65", "%", "in", "Qatari", "population", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0 ]
1576
[ "In", "the", "total", "cohort", "and", "at", "HMC", ",", "all", "consanguineous", "marriages", "had", "a", "significantly", "higher", "risk", "of", "Autosomal", "Recessive", "disorders", "than", "nonconsanguineous", "marriages", "(", "total", "cohort", ":", "odds", "ratio", "(", "OR", ")", "=", "1.72", ";", "95", "%", "CI", ":", "1.10", ",", "2.71", ";", "p", "=", ".02", ";", "HMC", ":", "OR", "=", "2.98", ";", "95", "%", "CI", ":", "1.37", ",", "6.09", ";", "p", "=", ".005", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1577
[ "On", "the", "other", "hand", ",", "at", "HMC", ",", "nonconsanguinity", "was", "significantly", "related", "to", "chromosomal", "abnormality", "(", "OR", "=", "6.36", ";", "95", "%", "CI", ":", "1.13", ",", "35.85", ";", "p", "=", ".036", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1578
[ "Conclusion", "Our", "data", "suggest", "a", "significant", "role", "of", "parental", "consanguinity", "in", "increasing", "the", "prevalence", "of", "genetic", "disorders", ";", "mainly", "Autosomal", "Recessive", "disorders", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1579
[ "Chromosomal", "abnormality", "disorders", "were", "significantly", "higher", "among", "nonconsanguineous", "marriages", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1580
[ "These", "results", "help", "better", "inform", "policy", "makers", "on", "social", ",", "educational", ",", "and", "public", "health", "initiatives", "that", "might", "mitigate", "the", "impact", "of", "genetic", "disease", "in", "the", "Qatari", "society", "." ]
[ 0, 0, 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 ]
1581
[ "Loss", "-", "of", "-", "function", "(", "LoF", ")", "mutations", "in", "KCNQ1", ",", "encoding", "the", "voltage", "-", "gated", "K", "+", "channel", "K", "v", "7.1", ",", "lead", "to", "long", "QT", "syndrome", "1", "(", "LQT1", ")", "." ]
[ 0, 0, 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, 2, 0, 3, 0, 0 ]
1582
[ "LQT1", "patients", "also", "present", "with", "post", "-", "prandial", "hyperinsulinemia", "and", "hypoglycaemia", "." ]
[ 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1583
[ "In", "contrast", ",", "KCNQ1", "polymorphisms", "are", "associated", "with", "diabetes", ",", "and", "LQTS", "patients", "have", "a", "higher", "prevalence", "of", "diabetes", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0 ]
1584
[ "We", "developed", "a", "mouse", "model", "with", "a", "LoF", "Kcnq1", "mutation", "using", "CRISPR", "-", "Cas9", "and", "hypothesized", "that", "this", "mouse", "model", "would", "display", "QT", "prolongation", ",", "increased", "glucose", "-", "stimulated", "insulin", "secretion", "and", "allow", "for", "interrogation", "of", "K", "v", "7.1", "function", "in", "islets", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1585
[ "Mice", "were", "characterized", "by", "electrocardiography", "and", "oral", "glucose", "tolerance", "tests", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1586
[ "Ex", "vivo", ",", "islet", "glucose", "-", "induced", "insulin", "release", "was", "measured", ",", "and", "beta", "-", "cell", "area", "quantified", "by", "immunohistochemistry", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1587
[ "Homozygous", "mice", "had", "QT", "prolongation", "." ]
[ 0, 0, 0, 0, 0, 0 ]
1588
[ "Ex", "vivo", ",", "glucose", "-", "stimulated", "insulin", "release", "was", "increased", "in", "islets", "from", "homozygous", "mice", "at", "12", "-", "14", "weeks", ",", "while", "beta", "-", "cell", "area", "was", "reduced", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1589
[ "Non", "-", "fasting", "blood", "glucose", "levels", "were", "decreased", "at", "this", "age", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1590
[ "In", "follow", "-", "up", "studies", "8", "-", "10", "weeks", "later", ",", "beta", "-", "cell", "area", "was", "similar", "in", "all", "groups", ",", "while", "glucose", "-", "stimulated", "insulin", "secretion", "was", "now", "reduced", "in", "islets", "from", "hetero-", "and", "homozygous", "mice", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1591
[ "Non", "-", "fasting", "blood", "glucose", "levels", "had", "normalized", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1592
[ "These", "data", "suggest", "that", "K", "v", "7.1", "dysfunction", "is", "involved", "in", "a", "transition", "from", "hyper-", "to", "hyposecretion", "of", "insulin", ",", "potentially", "explaining", "the", "association", "with", "both", "hypoglycemia", "and", "hyperglycemia", "in", "LQT1", "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, 3, 0, 0 ]
1593
[ "Girls", "with", "Fragile", "-", "X", "-", "Syndrome", "(", "FXS", ")", "present", "high", "levels", "of", "social", "anxiety", ",", "social", "avoidance", ",", "extreme", "shyness", ",", "tendency", "to", "social", "isolation", ",", "poor", "eye", "contact", ",", "learning", "difficulties", ",", "and", "depression", "." ]
[ 13, 0, 1, 2, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1594
[ "The", "aims", "of", "the", "present", "study", ",", "which", "is", "based", "on", "a", "group", "of", "young", "females", "with", "FXS", "are", ":", "1", ")", "to", "analyze", "the", "possible", "associations", "between", "emotion", "recognition", ",", "theory", "of", "mind", ",", "and", "social", "anxiety", ",", "and", "adaptive", "behavior", ",", "and", "emotional", "state", ";", "2", ")", "to", "study", "the", "relationship", "between", "intelligence", "quotient", "(", "IQ", ")", "and", "adaptive", "behavior", ";", "and", "3", ")", "to", "assess", "whether", "social", "anxiety", "is", "more", "prevalent", "in", "girls", "with", "FXS", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 13, 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, 5, 0, 13, 0, 3, 0 ]
1595
[ "The", "study", "has", "40", "female", "participants", "aged", "between", "7", "and", "16", "years", "(", "26", "positive", "full", "mutation", "FXS", "and", "14", "as", "a", "control", "group", ")", "." ]
[ 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0 ]
1596
[ "A", "neuropsychological", "assessment", "was", "conducted", "using", "the", "following", "tests", ":", "WISC", "-", "V", ",", "NEPSY", "-", "II", ",", "SENA", ",", "ADHD", "Rating", "Scale", ",", "BAS", ",", "and", "ABAS", "-", "II", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1597
[ "In", "comparison", "with", "the", "control", "group", ",", "the", "group", "with", "FXS", "presented", "a", "greater", "association", "between", "IQ", "and", "self", "-", "direction", "ability", ",", "and", "between", "emotion", "recognition", "and", "leadership", "." ]
[ 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 ]
1598
[ "The", "FXS", "group", "presented", "higher", "levels", "of", "social", "anxiety", "and", "shyness", "." ]
[ 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1599
[ "In", "the", "group", "of", "girls", "with", "FXS", ",", "IQ", "may", "have", "prognostic", "value", "for", "both", "self", "-", "direction", "ability", "and", "social", "adaptation", "level", "." ]
[ 0, 0, 0, 0, 13, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]