id
stringlengths
1
4
tokens
sequence
ner_tags
sequence
1600
[ "Purpose", "We", "observed", "four", "individuals", "in", "two", "unrelated", "but", "consanguineous", "families", "from", "Portugal", "and", "Brazil", "affected", "by", "early", "-", "onset", "retinal", "degeneration", ",", "sensorineural", "hearing", "loss", ",", "microcephaly", ",", "intellectual", "disability", ",", "and", "skeletal", "dysplasia", "with", "scoliosis", "and", "short", "stature", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0, 9, 0, 0, 1, 2, 2, 2, 0, 0, 1, 2, 2, 0, 1, 0, 1, 2, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0 ]
1601
[ "The", "phenotype", "precisely", "matched", "that", "of", "an", "individual", "of", "Azorean", "descent", "published", "in", "1986", "by", "Liberfarb", "and", "coworkers", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 0, 9, 0, 0, 0 ]
1602
[ "Methods", "Patients", "underwent", "specialized", "clinical", "examinations", "(", "including", "ophthalmological", ",", "audiological", ",", "orthopedic", ",", "radiological", ",", "and", "developmental", "assessment", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1603
[ "Exome", "and", "targeted", "sequencing", "was", "performed", "on", "selected", "individuals", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1604
[ "Minigene", "constructs", "were", "assessed", "by", "quantitative", "polymerase", "chain", "reaction", "(", "qPCR", ")", "and", "Sanger", "sequencing", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1605
[ "Results", "Affected", "individuals", "shared", "a", "3.36", "-", "Mb", "region", "of", "autozygosity", "on", "chromosome", "22q12.2", ",", "including", "a", "10", "-", "bp", "deletion", "(", "NM_014338.3", ":", "c.904", "-", "12_904", "-", "3delCTATCACCAC", ")", ",", "immediately", "upstream", "of", "the", "last", "exon", "of", "the", "PISD", "(", "phosphatidylserine", "decarboxylase", ")", "gene", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1606
[ "Sequencing", "of", "PISD", "from", "paraffin", "-", "embedded", "tissue", "from", "the", "1986", "case", "revealed", "the", "identical", "homozygous", "variant", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 0, 0, 0, 0, 0, 0, 0 ]
1607
[ "In", "HEK293", "T", "cells", ",", "this", "variant", "led", "to", "aberrant", "splicing", "of", "PISD", "transcripts", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1608
[ "Conclusion", "We", "have", "identified", "the", "genetic", "etiology", "of", "the", "Liberfarb", "syndrome", ",", "affecting", "brain", ",", "eye", ",", "ear", ",", "bone", ",", "and", "connective", "tissue", "." ]
[ 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 ]
1609
[ "Our", "work", "documents", "the", "migration", "of", "a", "rare", "Portuguese", "founder", "variant", "to", "two", "continents", "and", "highlights", "the", "link", "between", "phospholipid", "metabolism", "and", "bone", "formation", ",", "sensory", "defects", ",", "and", "cerebral", "development", ",", "while", "raising", "the", "possibility", "of", "therapeutic", "phospholipid", "replacement", "." ]
[ 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, 0, 0, 0 ]
1610
[ "Hemimelia", "is", "a", "rare", "anomaly", "affecting", "the", "distal", "long", "bones", "of", "extremities", ",", "with", "an", "occurrence", "of", "1", "-", "20", "cases", "per", "million", "of", "live", "births", "depending", "on", "the", "affected", "bone", "." ]
[ 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 7, 8, 8, 8, 8, 8, 8, 8, 8, 0, 0, 0, 0, 0, 0 ]
1611
[ "Hemimelia", "can", "be", "an", "isolated", "defect", "or", "be", "part", "of", "complex", "syndromes", "that", "affect", "extra", "skeletal", "structures", "." ]
[ 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1612
[ "Prenatal", "detection", "by", "routine", "ultrasound", "imaging", "is", "difficult", "and", "yields", "low", "detection", "rates", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1613
[ "The", "prenatal", "diagnosis", "of", "hemimelia", "should", "prompt", "a", "complete", "and", "detailed", "study", "of", "the", "fetal", "anatomy", ",", "since", "it", "can", "be", "associated", "with", "defects", "in", "other", "structures", "and", "systems", ",", "as", "the", "reported", "in", "this", "case", "." ]
[ 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0 ]
1614
[ "The", "prognosis", "depends", "upon", "the", "associated", "anomalies", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0 ]
1615
[ "Objective", "To", "evaluate", "the", "safety", "and", "efficacy", "of", "radiofrequency", "ablation", "(", "RFA", ")", "for", "metastatic", "lymph", "nodes", "(", "LNs", ")", "in", "children", "and", "adolescents", "with", "papillary", "Thyroid", "Carcinoma", "(", "PTC", ")", "." ]
[ 0, 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, 3, 0, 0 ]
1616
[ "Materials", "and", "methods", "From", "December", "2014", "to", "March", "2018", ",", "10", "metastatic", "LNs(mean", "volume", "0.30", "±", "0.38", "ml", ",", "range", "0.06", "-", "1.23ml", ")", "in", "5", "children", "and", "adolescents", "(", "3", "females", ",", "2", "males", ";", "mean", "age", "15.60", "±", "2.97", "years", ",", "range", "12", "-", "19", "years", ")", "with", "PTC", "treated", "by", "RFA", "were", "evaluated", "in", "this", "study", "." ]
[ 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, 13, 0, 0, 13, 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 ]
1617
[ "The", "mean", "number", "of", "surgical", "procedures", "performed", "before", "RFA", "was", "1.2", "(", "range", "1", "-", "2", ")", "and", "the", "mean", "number", "of", "treated", "metastatic", "LNs", "per", "patient", "was", "2", "(", "rang", "1", "-", "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 ]
1618
[ "RFA", "was", "performed", "with", "an", "18", "-", "gauge", "bipolar", "RF", "applicator", "under", "local", "anesthesia", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1619
[ "Follow", "-", "up", "consisted", "of", "US", "and", "serum", "thyroglobulin", "(", "Tg", ")", "level", "at", "1", ",", "3", ",", "6", ",", "12", "months", "and", "every", "12", "months", "thereafter", "." ]
[ 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1620
[ "Results", "All", "the", "patients", "were", "well", "tolerant", "to", "RFA", "procedure", "and", "no", "procedure", "-", "related", "complications", "occurred", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1621
[ "During", "a", "mean", "follow", "-", "up", "time", "of", "52.00", "±", "21.44", "months", ",", "the", "initial", "volume", "of", "LNs", "was", "0.30", "±", "0.38", "ml", ",", "which", "significantly", "decreased", "to", "0.01", "±", "0.03", "ml", "(", "P", "=", "0.005", ")", "with", "a", "mean", "VRR", "of", "99.28", "±", "2.27", "%", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1622
[ "A", "total", "of", "9", "metastatic", "LNs", "(", "90.00", "%", ")", "completely", "disappeared", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1623
[ "After", "RFA", ",", "2", "patients", "developed", "newly", "metastases", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1624
[ "One", "patient", "had", "additional", "RFA", "." ]
[ 0, 0, 0, 0, 0, 0 ]
1625
[ "The", "other", "one", "with", "multiple", "LN", "metastases", "underwent", "total", "thyroidectomy", "with", "central", "neck", "dissection", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1626
[ "Conclusion", "As", "a", "less", "invasive", "and", "effective", "technique", ",", "RFA", "may", "provide", "another", "alternative", "to", "the", "existing", "therapeutic", "modalities", "for", "cervical", "metastatic", "LNs", "in", "children", "and", "adolescents", "with", "PTC", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1627
[ "Background", "The", "prevalence", "of", "Multiple", "Sclerosis", "(", "MS", ")", "has", "been", "increasing", "worldwide", "and", "the", "highest", "prevalence", "ratio", "among", "Asian", "countries", "was", "reported", "in", "Iran", "." ]
[ 0, 0, 5, 0, 1, 2, 0, 3, 0, 0, 0, 0, 9, 0, 0, 0, 5, 0, 0, 15, 0, 0, 0, 0, 9, 0 ]
1628
[ "This", "study", "aims", "to", "estimate", "the", "increase", "in", "MS", "occurrence", "during", "more", "than", "three", "decades", "in", "Tehran", "and", "forecast", "the", "future", "condition", "of", "the", "disease", "using", "time", "series", "approaches", "for", "the", "next", "ten", "years", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 5, 0, 0, 0, 0, 0, 0, 9, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1629
[ "Methods", "The", "cross", "-", "sectional", "study", "was", "conducted", "from", "1999", "to", "2019", "based", "on", "records", "of", "MS", "cases", "from", "Iranian", "MS", "Society", "(", "IMSS", ")", "registry", "system", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 0, 0, 0, 0, 3, 0, 0, 15, 3, 0, 0, 0, 0, 0, 0, 0 ]
1630
[ "The", "prevalence", "was", "estimated", "using", "population", "data", "presented", "by", "the", "Statistical", "Centre", "of", "Iran", "." ]
[ 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 0 ]
1631
[ "Through", "Bayesian", "Structural", "Time", "Series", "(", "BSTS", ")", "model", ",", "we", "want", "to", "predict", "the", "prevalence", "of", "familial", "and", "sporadic", "MS", "in", "the", "next", "ten", "years", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0 ]
1632
[ "." ]
[ 0 ]
1633
[ "Results", "Among", "22,421", "cases", "with", "MS", ",", "16,831", "(", "75.1", "%", ")", "were", "female", "and", "5589", "(", "24.9", "%", ")", "were", "male", "." ]
[ 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 13, 0 ]
1634
[ "Female", "to", "male", "ratio", "was", "3.0:1", "and", "the", "number", "of", "familial", "MS", "cases", "were", "2982", "(", "13.3", "%", ")", "of", "subjects", "." ]
[ 13, 0, 13, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1635
[ "Female", "gender", "was", "less", "responsible", "for", "higher", "rate", "of", "MS", "in", "familial", "definition", "(", "beta", "=", "0.020", ")", "in", "comparison", "to", "sporadic", "cases", "(", "beta", "=", "0.034", ")", "." ]
[ 13, 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 ]
1636
[ "Forecasting", "by", "BSTS", "revealed", "an", "increase", "in", "MS", "prevalence", "for", "the", "next", "ten", "years", "so", "that", "the", "prevalence", "rate", "for", "total", ",", "familial", "and", "sporadic", "MS", "respectively", "begins", "with", "189.50", "(", "183.94", "-", "195.14", ")", ",", "25.69", "(", "24.97", "-", "26.45", ")", "and", "163.74", "(", "159.06", "-", "168.57", ")", "in", "2020", "and", "ends", "with", "220.84", "(", "171.48", "-", "266.92", ")", ",", "30.79", "(", "24.16", "-", "37.15", ")", ",", "and", "189.33", "(", "146.97", "-", "230.19", ")", "in", "2029", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 3, 5, 0, 0, 0, 0, 0, 0, 0, 0, 5, 6, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 7, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 0, 11, 0, 0, 0, 7, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 8, 0, 11, 0 ]
1637
[ "Conclusions", "According", "to", "the", "findings", ",", "MS", "prevalence", "increased", "during", "three", "decades", "and", "it", "will", "increase", "over", "the", "next", "ten", "years", "." ]
[ 0, 0, 0, 0, 0, 0, 3, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1638
[ "Tehran", "province", "is", "one", "of", "the", "regions", "with", "highest", "MS", "prevalence", "in", "Asia", "." ]
[ 9, 0, 0, 0, 0, 0, 0, 0, 0, 3, 5, 0, 9, 0 ]
1639
[ "The", "results", "of", "present", "study", "indicated", "that", "females", "are", "at", "higher", "risk", "for", "MS", "than", "males", "in", "both", "sporadic", "and", "familial", "MS", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 3, 0 ]
1640
[ "Background", "and", "aim", "This", "study", "aimed", "to", "describe", "the", "clinical", ",", "genetic", ",", "and", "epidemiological", "features", "of", "Charcot", "-", "Marie", "-", "Tooth", "disease", "(", "CMT", ")", "in", "Brazilian", "patients", "from", "a", "tertiary", "center", ",", "and", "to", "compare", "our", "data", "with", "previously", "published", "findings", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 3, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1641
[ "Methods", "This", "retrospective", "observational", "study", "conducted", "between", "February", "2015", "and", "July", "2020", "evaluated", "503", "patients", "(", "94", "families", "and", "192", "unrelated", "individuals", ")", ",", "diagnosed", "with", "CMT", "." ]
[ 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, 3, 0 ]
1642
[ "Clinical", "and", "neurophysiological", "data", "were", "obtained", "from", "electronic", "medical", "records", "and", "blood", "samples", "were", "used", "for", "genetic", "analyses", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1643
[ "Multiplex", "ligation", "-", "dependent", "probe", "amplification", "was", "used", "to", "assess", "duplications", "/", "deletions", "in", "PMP22", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1644
[ "Sanger", "sequencing", "of", "GJB1", "was", "performed", "in", "cases", "of", "suspected", "demyelinating", "CMT", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]
1645
[ "Targeted", "gene", "panel", "sequencing", "was", "used", "for", "the", "remaining", "negative", "demyelinating", "cases", "and", "all", "axonal", "CMT", "cases", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0 ]
1646
[ "Results", "The", "first", "decade", "of", "life", "was", "the", "most", "common", "period", "of", "disease", "onset", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1647
[ "In", "all", ",", "353", "patients", "had", "demyelinating", "CMT", ",", "39", "had", "intermediate", "CMT", ",", "and", "111", "had", "axonal", "CMT", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 3, 0 ]
1648
[ "Pathogenic", "or", "likely", "pathogenic", "variants", "were", "identified", "in", "197", "index", "cases", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1649
[ "The", "most", "common", "causative", "genes", "among", "probands", "were", "PMP22", "(", "duplication", ")", "(", "n=116", ",", "58.88", "%", ")", ",", "GJB1", "(", "n=23", ",", "11.67", "%", ")", ",", "MFN2", "(", "n=12", ",", "6.09", "%", ")", ",", "GDAP1", "(", "n=7", ",", "3.55", "%", ")", ",", "MPZ", "(", "n=6", ",", "3.05", "%", ")", ",", "PMP22", "(", "point", "mutation", ")", "(", "n=6", ",", "3.05", "%", ")", ",", "NEFL", "(", "n=3", ",", "1.52", "%", ")", ",", "SBF2", "(", "n=3", ",", "1.52", "%", ")", ",", "and", "SH3TC2", "(", "n=3", ",", "1.52", "%", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1650
[ "Other", "identified", "variants", "were", "≤1", "%", "of", "index", "cases", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1651
[ "Interpretation", "This", "study", "provides", "further", "data", "on", "the", "frequency", "of", "CMT", "subtypes", "in", "a", "Brazilian", "clinical", "-", "based", "population", "and", "highlights", "the", "importance", "of", "rarer", "and", "previously", "undiagnosed", "variants", "in", "clinical", "practice", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1652
[ "This", "article", "is", "protected", "by", "copyright", "." ]
[ 0, 0, 0, 0, 0, 0, 0 ]
1653
[ "All", "rights", "reserved", "." ]
[ 0, 0, 0, 0 ]
1654
[ "Aim", "To", "assess", "a", "total", "population", "of", "school", "-", "age", "children", "with", "cerebral", "palsy", "(", "CP", ")", "for", "autism", "and", "attention", "-", "deficit", "/", "hyperactivity", "disorder", "(", "ADHD", ")", "with", "a", "view", "to", "determining", "their", "prevalence", "and", "to", "relate", "findings", "to", "motor", "function", ",", "intellectual", "disability", ",", "and", "other", "associated", "impairments", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 0, 0, 1, 0, 1, 2, 2, 2, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1655
[ "Method", "Of", "264", "children", ",", "born", "between", "1999", "and", "2006", ",", "from", "the", "CP", "register", "of", "western", "Sweden", ",", "200", "children", "(", "109", "males", ",", "91", "females", ",", "median", "age", "at", "assessment", "14y", ",", "range", "7", "-", "18y", ")", "completed", "comprehensive", "screening", "and", "further", "neuropsychiatric", "clinical", "assessments", "." ]
[ 0, 0, 0, 0, 0, 0, 11, 12, 12, 12, 0, 0, 0, 1, 0, 0, 9, 10, 0, 0, 0, 0, 0, 13, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1656
[ "Results", "Ninety", "children", "(", "45", "%", ")", "were", "diagnosed", "with", "autism", ",", "ADHD", ",", "or", "both", ",", "59", "(", "30", "%", ")", "were", "diagnosed", "with", "autism", ",", "and", "60", "(", "30", "%", ")", "were", "diagnosed", "with", "ADHD", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0 ]
1657
[ "Intellectual", "disability", "was", "present", "in", "51", "%", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0 ]
1658
[ "Two", "-", "thirds", "had", "autism", ",", "ADHD", ",", "and/or", "intellectual", "disability", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1659
[ "In", "regression", "models", ",", "autism", "was", "mainly", "predicted", "by", "intellectual", "disability", "(", "odds", "ratio", "[", "OR]=4.1", ")", "and", "ADHD", "(", "OR=3.2", ")", ",", "and", "ADHD", "was", "predicted", "by", "intellectual", "disability", "(", "OR=2.3", ")", "and", "autism", "(", "OR=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 ]
1660
[ "Autism", "was", "more", "common", "in", "children", "born", "preterm", "(", "OR=2.0", ")", "." ]
[ 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1661
[ "Gross", "motor", "function", "was", "not", "associated", "with", "autism", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 1, 0 ]
1662
[ "ADHD", "prevalence", "was", "low", "in", "children", "with", "severe", "motor", "impairment", ",", "possibly", "due", "to", "diagnostic", "limitations", "." ]
[ 3, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1663
[ "Interpretation", "Autism", "and", "ADHD", "were", "common", "in", "this", "population", "of", "children", "with", "CP", "and", "were", "mainlyindependent", "of", "motor", "severity", "and", "CP", "type", "." ]
[ 0, 1, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0 ]
1664
[ "The", "strongest", "predictor", "of", "autism", "/", "ADHD", "was", "intellectual", "disability", "." ]
[ 0, 0, 0, 0, 1, 0, 3, 0, 0, 0, 0 ]
1665
[ "Assessment", "for", "autism", "and", "ADHD", "is", "warranted", "as", "part", "of", "the", "evaluation", "in", "CP", "." ]
[ 0, 0, 1, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1666
[ "What", "this", "paper", "adds", "Forty", "-", "five", "percent", "of", "the", "children", "with", "cerebral", "palsy", "also", "had", "autism", ",", "attention", "-", "deficit", "/", "hyperactivity", "disorder", "(", "ADHD", ")", ",", "or", "both", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 2, 2, 2, 2, 2, 0, 3, 0, 0, 0, 0, 0 ]
1667
[ "Autism", "and", "ADHD", "were", "predicted", "mainly", "by", "intellectual", "disability", "." ]
[ 1, 0, 3, 0, 0, 0, 0, 0, 0, 0 ]
1668
[ "Established", "diagnostic", "instruments", "worked", "well", "for", "all", "but", "the", "most", "disabled", "group", "of", "children", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1669
[ "Background", "The", "VACTERL", "association", "(", "VACTERL", ")", "is", "the", "nonrandom", "occurrence", "of", "at", "least", "three", "of", "these", "congenital", "anomalies", ":", "vertebral", ",", "anal", ",", "cardiac", ",", "tracheoesophageal", ",", "renal", ",", "and", "limb", "anomalies", "." ]
[ 0, 0, 1, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1670
[ "Despite", "suggestions", "for", "involvement", "of", "several", "genes", "and", "nongenetic", "risk", "factors", "from", "small", "studies", ",", "the", "etiology", "of", "VACTERL", "remains", "largely", "unknown", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0 ]
1671
[ "Objective", "To", "identify", "maternal", "risk", "factors", "for", "VACTERL", "in", "offspring", "in", "a", "large", "European", "study", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 15, 0, 0 ]
1672
[ "Methods", "A", "case", "-", "control", "study", "was", "performed", "using", "data", "from", "28", "EUROCAT", "registries", "over", "the", "period", "1997", "-", "2015", "with", "case", "and", "control", "ascertainment", "through", "hospital", "records", ",", "birth", "and", "death", "certificates", ",", "questionnaires", ",", "and/or", "postmortem", "examinations", "." ]
[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1673
[ "Cases", "were", "diagnosed", "with", "VACTERL", ",", "while", "controls", "had", "a", "genetic", "syndrome", "and/or", "chromosomal", "abnormality", "." ]
[ 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1674
[ "Data", "collected", "included", "type", "of", "birth", "defect", "and", "maternal", "characteristics", ",", "such", "as", "age", ",", "use", "of", "assisted", "reproductive", "techniques", "(", "ART", ")", ",", "and", "chronic", "illnesses", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1675
[ "Multivariable", "logistic", "regression", "analyses", "were", "performed", "to", "estimate", "confounder", "adjusted", "odds", "ratios", "(", "aOR", ")", "with", "95", "%", "confidence", "intervals", "(", "95", "%", "CI", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1676
[ "Results", "The", "study", "population", "consisted", "of", "329", "VACTERL", "cases", "and", "49,724", "controls", "with", "recognized", "syndromes", "or", "chromosomal", "abnormality", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1677
[ "For", "couples", "who", "conceived", "through", "ART", ",", "we", "found", "an", "increased", "risk", "of", "VACTERL", "(", "aOR", "2.3", "[", "95", "%", "CI", "1.3", ",", "3.9", "]", ")", "in", "offspring", "." ]
[ 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 ]
1678
[ "Pregestational", "diabetes", "(", "aOR", "3.1", "[", "95", "%", "CI", "1.1", ",", "8.6", "]", ")", "and", "chronic", "lower", "obstructive", "pulmonary", "diseases", "(", "aOR", "3.9", "[", "95", "%", "CI", "2.2", ",", "6.7", "]", ")", "also", "increased", "the", "risk", "of", "having", "a", "child", "with", "VACTERL", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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 ]
1679
[ "Twin", "pregnancies", "were", "not", "associated", "with", "VACTERL", "(", "aOR", "0.6", "[", "95", "%", "CI", "0.3", ",", "1.4", "]", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1680
[ "Conclusion", "We", "identified", "several", "maternal", "risk", "factors", "for", "VACTERL", "in", "offspring", "befitting", "a", "multifactorial", "etiology", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0 ]
1681
[ "Limb", "deficiency", "disorders", "are", "rare", ",", "etiologically", "heterogeneous", "skeletal", "dysplasias", "that", "occur", "as", "an", "isolated", "anomaly", "or", "as", "a", "part", "of", "a", "syndrome", "." ]
[ 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1682
[ "The", "term", "limb", "deficiency", "incorporates", "both", "absence", "and", "size", "reduction", "of", "any", "of", "the", "120", "human", "limb", "bones", ",", "with", "around", "205", "identified", "abnormalities", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1683
[ "Congenital", "absence", "of", "tibia", "is", "a", "rare", "and", "severe", "lower", "limb", "malformation", "with", "an", "incidence", "of", "approximately", "1:1,000,000", "live", "births", "." ]
[ 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 7, 8, 8, 8, 0 ]
1684
[ "Absence", "of", "tibia", "with", "ectrodactyly", "(", "lobster", "claw", "deformity", ")", "or", "tibial", "hemimelia", "with", "split", "hand", "/", "foot", "malformation", "(", "TH", "-", "SHFM", ")", "or", "Gollop", "-", "Wolfgang", "complex", "is", "a", "rarer", "malformation", "with", "highly", "variable", "manifestations", "." ]
[ 1, 2, 2, 0, 1, 0, 0, 0, 0, 0, 0, 1, 2, 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 ]
1685
[ "Background", "Craniosynostosis", ",", "defined", "as", "premature", "fusion", "of", "one", "or", "more", "cranial", "sutures", ",", "affects", "approximately", "1", "in", "every", "2000", "-", "2500", "live", "births", "." ]
[ 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 7, 8, 8, 8, 8, 8, 8, 8, 0 ]
1686
[ "Sagittal", "craniosynostosis", "(", "CS", ")", ",", "the", "most", "prevalent", "form", "of", "isolated", "craniosynostosis", ",", "is", "caused", "by", "interplay", "between", "genetic", "and", "perinatal", "environmental", "insults", "." ]
[ 1, 2, 0, 3, 0, 0, 0, 0, 5, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1687
[ "However", ",", "the", "underlying", "details", "remain", "largely", "unknown", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1688
[ "Methods", "The", "proband", "(", "a", "female", "monochorionic", "twin", "diagnosed", "with", "CS", ")", ",", "her", "healthy", "co", "-", "twin", "sister", "and", "parents", "were", "enrolled", "." ]
[ 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1689
[ "Obstetric", "history", "was", "extracted", "from", "medical", "records", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0 ]
1690
[ "Genetic", "screening", "was", "performed", "by", "whole", "exome", "sequencing", "(", "WES", ")", "and", "confirmed", "by", "Sanger", "sequencing", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1691
[ "Functional", "annotation", ",", "conservation", "and", "structural", "analysis", "were", "predicted", "in", "public", "database", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1692
[ "Phenotype", "data", "of", "Axin2", "knockout", "mice", "was", "downloaded", "from", "The", "International", "Mouse", "Phenotyping", "Consortium", "(", "IMPC", ",", "http://www.mousephenotype.org", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1693
[ "Results", "Obstetric", "medical", "records", "showed", "that", ",", "except", "for", "the", "shared", "perinatal", "risk", "factors", "by", "the", "twins", ",", "the", "proband", "suffered", "additional", "persistent", "breech", "presentation", "and", "intrauterine", "growth", "restriction", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1694
[ "We", "identified", "a", "heterozygous", "mutation", "of", "Axin2", "(", "c.1181", "G", ">", "A", ",", "p.", "R394H", ",", "rs200899695", ")", "in", "monochorionic", "twins", "and", "their", "father", ",", "but", "not", "in", "the", "mother", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1695
[ "This", "mutation", "is", "not", "reported", "in", "Asian", "population", "and", "results", "in", "replacement", "of", "Arg", "at", "residue", "394", "by", "His", "(", "p.", "R394H", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1696
[ "Arg", "394", "is", "located", "at", "the", "GSK3β0", "binding", "domain", "of", "Axin2", "protein", ",", "which", "is", "highly", "conserved", "across", "species", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1697
[ "The", "mutation", "was", "predicted", "to", "be", "potentially", "deleterious", "by", "in", "silico", "analysis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
1698
[ "Incomplete", "penetrance", "of", "Axin2", "haploinsufficiency", "was", "found", "in", "female", "mice", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0 ]
1699
[ "Conclusions", "Axin2", "(", "c.1181", "G", ">", "A", ",", "p.", "R394H", ",", "rs200899695", ")", "mutation", "confers", "susceptibility", "and", "perinatal", "risk", "factors", "trigger", "the", "occurrence", "of", "sagittal", "craniosynostosis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 1, 2, 0 ]