id
stringlengths
1
4
tokens
sequence
ner_tags
sequence
2600
[ "A", "dermatological", "consultation", "may", "be", "considered", "at", "least", "once", "in", "individuals", "with", "LFS", "to", "raise", "awareness", "for", "skin", "cancer", "and", "inform", "about", "risk", "factors", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0 ]
2601
[ "Background", "Intestinal", "malrotation", "is", "a", "potentially", "life", "-", "threatening", "congenital", "anomaly", "due", "to", "the", "risk", "of", "developing", "midgut", "volvulus", "." ]
[ 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2602
[ "The", "reported", "incidence", "is", "0.2%-1", "%", "and", "both", "apparently", "hereditary", "and", "sporadic", "cases", "have", "been", "reported", "." ]
[ 0, 0, 5, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2603
[ "Intestinal", "malrotation", "is", "associated", "with", "a", "few", "syndromes", "with", "known", "genotype", "but", "the", "genetic", "contribution", "in", "isolated", "intestinal", "malrotation", "has", "not", "yet", "been", "reported", "." ]
[ 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 ]
2604
[ "Rare", "copy", "number", "variants", "(", "CNVs", ")", "have", "been", "implicated", "in", "many", "congenital", "anomalies", ",", "and", "hence", "we", "sought", "to", "investigate", "the", "potential", "contribution", "of", "rare", "CNVs", "in", "intestinal", "malrotation", "." ]
[ 0, 0, 0, 0, 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 ]
2605
[ "Methods", "Analysis", "of", "array", "comparative", "genomic", "hybridization", "(", "aCGH", ")", "data", "from", "47", "patients", "with", "symptomatic", "intestinal", "malrotation", "was", "performed", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0 ]
2606
[ "Results", "We", "identified", "six", "rare", "CNVs", "in", "five", "patients", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2607
[ "Five", "CNVs", "involved", "syndrome", "loci", ":", "7q11.23", "microduplication", ",", "16p13.11", "microduplication", ",", "18q", "terminal", "deletion", ",", "HDAC8", "(", "Cornelia", "de", "Lange", "syndrome", "type", "5", "and", "FOXF1", ")", "as", "well", "as", "one", "intragenic", "deletion", "in", "GALNT14", ",", "not", "previously", "implicated", "in", "human", "disease", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2608
[ "Conclusion", "In", "the", "present", "study", ",", "we", "identified", "rare", "CNVs", "contributing", "pathogenic", "or", "potentially", "pathogenic", "alleles", "in", "five", "patients", "with", "syndromic", "intestinal", "malrotation", ",", "suggesting", "that", "CNV", "screening", "is", "indicated", "in", "intestinal", "malrotation", "with", "associated", "malformations", "or", "neurological", "involvements", "." ]
[ 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, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0 ]
2609
[ "In", "addition", ",", "we", "identified", "intestinal", "malrotation", "in", "two", "known", "syndromes", "(", "Cornelia", "de", "Lange", "type", "5", "and", "18q", "terminal", "deletion", "syndrome", ")", "that", "has", "not", "previously", "been", "associated", "with", "gastrointestinal", "malformations", "." ]
[ 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2610
[ "Since", "the", "discovery", "of", "human", "leukocyte", "antigens", "(", "HLAs", ")", ",", "the", "function", "of", "major", "histocompatibility", "complex", "(", "MHC", ")", "gene", "families", "in", "a", "wide", "range", "of", "diseases", "have", "been", "the", "subject", "of", "research", "for", "decades", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2611
[ "In", "particular", ",", "the", "associations", "of", "autoimmune", "disorders", "to", "allelic", "variants", "and", "candidate", "genes", "encoding", "the", "MHC", "are", "well", "documented", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2612
[ "However", ",", "despite", "decades", "of", "research", ",", "the", "knowledge", "of", "MHC", "associations", "with", "human", "disease", "susceptibility", "have", "been", "predominantly", "studied", "in", "European", "origin", ",", "with", "limited", "understanding", "in", "different", "populations", "and", "ethnic", "groups", "." ]
[ 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, 0, 0, 0, 0, 0, 0, 0, 0 ]
2613
[ "This", "is", "particularly", "evident", "in", "countries", "and", "ethnic", "populations", "of", "the", "Arabian", "Peninsula", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 0 ]
2614
[ "Human", "MHC", "haplotypes", ",", "and", "its", "association", "with", "diseases", ",", "of", "the", "variable", "ethnic", "groups", "of", "this", "region", "are", "poorly", "studied", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2615
[ "This", "review", "compiled", "published", "manuscripts", "that", "have", "reported", "a", "list", "of", "autoimmune", "diseases", "(", "insulin", "-", "dependent", "diabetes", "mellitus", ",", "systemic", "lupus", "erythematosus", ",", "myasthenia", "gravis", ",", "rheumatoid", "arthritis", ",", "psoriasis", "vulgaris", ",", "and", "multiple", "sclerosis", ")", "associated", "with", "MHC", "class", "I", "and", "class", "II", "in", "the", "populations", "of", "the", "Arabian", "Peninsula", ",", "specifically", "Bahrain", ",", "Kuwait", ",", "Oman", ",", "Qatar", ",", "Saudi", "Arabia", ",", "the", "United", "Arab", "Emirates", ",", "and", "Yemen", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 1, 2, 2, 0, 1, 2, 0, 1, 2, 0, 1, 2, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 10, 0, 0, 9, 0, 9, 0, 9, 0, 9, 0, 9, 10, 0, 9, 10, 10, 10, 0, 0, 9, 0 ]
2616
[ "Data", "available", "was", "compared", "with", "other", "three", "ethnic", "groups", ",", "namely", "Caucasians", ",", "Asians", ",", "and", "Africans", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 15, 0, 0, 15, 0 ]
2617
[ "The", "limited", "data", "available", "in", "the", "public", "domain", "on", "the", "association", "between", "MHC", "gene", "and", "autoimmune", "diseases", "highlight", "the", "challenges", "in", "the", "Middle", "Eastern", "region", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 9, 10, 0, 0 ]
2618
[ "Charcot", "-", "Marie", "-", "Tooth", "disease", "(", "CMT", ")", "is", "a", "common", "inherited", "peripheral", "neuropathy", "affecting", "up", "to", "1", "in", "1214", "of", "the", "general", "population", "with", "more", "than", "60", "nuclear", "genes", "implicated", "in", "its", "pathogenesis", "." ]
[ 1, 2, 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 ]
2619
[ "Traditional", "molecular", "diagnostic", "pathways", "based", "on", "relative", "prevalence", "and", "clinical", "phenotyping", "are", "limited", "by", "long", "turnaround", "time", ",", "population", "-", "specific", "prevalence", "of", "causative", "variants", "and", "inability", "to", "assess", "multiple", "co", "-", "existing", "variants", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2620
[ "In", "this", "study", ",", "a", "CMT", "gene", "panel", "comprising", "27", "genes", "was", "used", "to", "uncover", "the", "pathogenic", "mutations", "in", "two", "index", "patients", "." ]
[ 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2621
[ "The", "first", "patient", "is", "a", "15", "-", "year", "-", "old", "boy", ",", "born", "of", "consanguineous", "parents", ",", "who", "has", "had", "frequent", "trips", "and", "falls", "since", "infancy", ",", "and", "was", "later", "found", "to", "have", "inverted", "champagne", "bottle", "appearance", "of", "bilateral", "legs", "and", "foot", "drop", "." ]
[ 0, 0, 0, 0, 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, 0, 0, 0, 0 ]
2622
[ "His", "elder", "sister", "is", "similarly", "affected", "." ]
[ 0, 0, 13, 0, 0, 0, 0 ]
2623
[ "The", "second", "patient", "is", "a", "37", "-", "year", "-", "old", "woman", "referred", "for", "pre", "-", "pregnancy", "genetic", "diagnosis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 13, 0, 0, 0, 0, 0, 0, 0, 0 ]
2624
[ "During", "early", "adulthood", ",", "she", "developed", "progressive", "lower", "limb", "weakness", ",", "difficulties", "in", "tip", "-", "toe", "walking", "and", "thinning", "of", "calf", "muscles", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2625
[ "Both", "patients", "are", "clinically", "compatible", "with", "CMT", ",", "have", "undergone", "multiple", "genetic", "testings", "and", "have", "not", "previously", "received", "a", "definitive", "genetic", "diagnosis", "." ]
[ 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2626
[ "Patients", "1", "and", "2", "were", "found", "to", "have", "pathogenic", "homozygous", "HSPB1", ":", "NM_001540", ":", "c.250G", ">", "A", "(", "p.", "G84R", ")", "variant", "and", "heterozygous", "GDAP1", ":", "NM_018972", ":", "c.358C", ">", "T", "(", "p.", "R120W", ")", "variant", ",", "respectively", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2627
[ "Advantages", "and", "limitations", "of", "the", "current", "approach", "are", "discussed", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2628
[ "Mutations", "in", "the", "COL4A5", "gene", ",", "located", "at", "Xq22", ",", "cause", "Alport", "syndrome", "(", "AS", ")", ",", "a", "nephritis", "characterized", "by", "progressive", "deterioration", "of", "the", "glomerular", "basement", "membrane", "and", "usually", "associated", "with", "progressive", "hearing", "loss", "." ]
[ 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 ]
2629
[ "We", "have", "identified", "a", "novel", "mutation", ",", "L1649R", ",", "present", "in", "9", "of", "121", "independently", "ascertained", "families", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2630
[ "Affected", "males", "shared", "the", "same", "haplotype", "of", "eight", "polymorphic", "markers", "tightly", "linked", "to", "COL4A5", ",", "indicating", "common", "ancestry", "." ]
[ 0, 13, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2631
[ "Genealogical", "studies", "place", "the", "birth", "of", "this", "ancestor", ">", "200", "years", "ago", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2632
[ "The", "L1649R", "mutation", "is", "a", "relatively", "common", "cause", "of", "Alport", "syndrome", "in", "the", "western", "United", "States", ",", "in", "part", "because", "of", "the", "rapid", "growth", "and", "migratory", "expansion", "of", "mid", "-", "nineteenth", "-", "century", "pioneer", "populations", "carrying", "the", "gene", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 9, 10, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2633
[ "L1649R", "affects", "a", "highly", "conserved", "residue", "in", "the", "NC1", "domain", ",", "which", "is", "involved", "in", "key", "inter-", "and", "intramolecular", "interactions", ",", "but", "results", "in", "a", "relatively", "mild", "disease", "phenotype", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2634
[ "Renal", "failure", "in", "an", "L1649R", "male", "typically", "occurs", "in", "the", "4th", "or", "5th", "decade", "and", "precedes", "the", "onset", "of", "significant", "hearing", "loss", "by", "approximately", "10", "years", "." ]
[ 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 ]
2635
[ "Background", "To", "evaluate", "clinical", ",", "genetic", ",", "and", "radiologic", "features", "of", "our", "patients", "with", "muscle", "-", "eye", "-", "brain", "disease", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2636
[ "Methods", "The", "data", "of", "patients", "who", "were", "diagnosed", "with", "muscle", "-", "eye", "-", "brain", "disease", "from", "a", "cohort", "of", "patients", "with", "congenital", "muscular", "dystrophy", "in", "the", "Division", "of", "Pediatric", "Neurology", "of", "Dokuz", "Eylül", "University", "School", "of", "Medicine", "and", "Gaziantep", "Children", "'s", "Hospital", "between", "2005", "and", "2013", "were", "analyzed", "retrospectively", "." ]
[ 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 12, 12, 12, 0, 0, 0, 0 ]
2637
[ "Results", "From", "a", "cohort", "of", "34", "patients", "with", "congenital", "muscular", "dystrophy", ",", "12", "patients", "from", "10", "families", "were", "diagnosed", "with", "muscle", "-", "eye", "-", "brain", "disease", "." ]
[ 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 ]
2638
[ "The", "mean", "age", "of", "the", "patients", "was", "9", "±", "5.5", "years", "(", "2", "-", "19", "years", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2639
[ "Mean", "serum", "creatine", "kinase", "value", "was", "2485.80", "±", "1308.54", "IU", "/", "L", "(", "700", "-", "4267", "IU", "/", "L", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2640
[ "All", "patients", "presented", "with", "muscular", "hypotonia", "at", "birth", "followed", "by", "varying", "degrees", "of", "spasticity", "and", "exaggerated", "deep", "tendon", "reflexes", "in", "later", "stages", "of", "life", "." ]
[ 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 ]
2641
[ "Three", "patients", "were", "able", "to", "walk", "." ]
[ 0, 0, 0, 0, 0, 0, 0 ]
2642
[ "The", "most", "common", "ophthalmologic", "and", "radiologic", "abnormalities", "were", "cataracts", ",", "retinal", "detachment", ",", "periventricular", "white", "matter", "abnormalities", ",", "ventriculomegaly", ",", "pontocerebellar", "hypoplasia", ",", "and", "multiple", "cerebellar", "cysts", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 2, 0, 1, 2, 2, 2, 0, 1, 0, 1, 2, 0, 0, 1, 2, 2, 0 ]
2643
[ "All", "of", "the", "patients", "had", "mutations", "in", "the", "POMGNT1", "gene", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2644
[ "The", "most", "common", "mutation", "detected", "in", "66", "%", "of", "patients", "was", "c.1814", "G", ">", "A", "(", "p.", "R605H", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2645
[ "Two", "novel", "mutations", "were", "identified", "." ]
[ 0, 0, 0, 0, 0, 0 ]
2646
[ "Conclusions", "We", "suggest", "that", "muscle", "-", "eye", "-", "brain", "disease", "is", "a", "relatively", "common", "muscular", "dystrophy", "in", "Turkey", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 9, 0 ]
2647
[ "It", "should", "be", "suspected", "in", "patients", "with", "muscular", "hypotonia", ",", "increased", "creatine", "kinase", ",", "and", "structural", "eye", "and", "brain", "abnormalities", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2648
[ "The", "c.1814", "G", ">", "A", "mutation", "in", "exon", "21", "of", "the", "POMGNT1", "gene", "is", "apparently", "a", "common", "mutation", "in", "the", "Turkish", "population", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 16, 0 ]
2649
[ "Individuals", "with", "this", "mutation", "show", "classical", "features", "of", "muscle", "-", "eye", "-", "brain", "disease", ",", "but", "others", "may", "exhibit", "a", "milder", "phenotype", "and", "retain", "the", "ability", "to", "walk", "independently", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2650
[ "Congenital", "muscular", "dystrophy", "patients", "from", "Turkey", "carrying", "the", "clinical", "and", "radiologic", "features", "of", "muscle", "-", "eye", "-", "brain", "disease", "should", "be", "evaluated", "for", "mutations", "in", "POMGNT1", "gene", "." ]
[ 1, 2, 2, 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 ]
2651
[ "Since", "its", "first", "clinical", "description", "(", "on", "his", "son", ")", "by", "William", "James", "West", "(", "1793", "-", "1848", ")", "in", "1841", ",", "and", "the", "definition", "of", "the", "classical", "triad", "of", "(", "1", ")", "infantile", "spasms", ";", "(", "2", ")", "hypsarrhythmia", ",", "and", "(", "3", ")", "developmental", "arrest", "or", "regression", "as", "West", "syndrome", ",", "new", "and", "relevant", "advances", "have", "been", "recorded", "in", "this", "uncommon", "disorder", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2652
[ "New", "approaches", "include", "terminology", "of", "clinical", "spasms", "(", "e.g.", ",", "infantile", "(", "IS", ")", "vs.", "epileptic", "spasms", "(", "ES", ")", ")", ",", "variety", "of", "clinical", "and", "electroencephalographic", "(", "EEG", ")", "features", "(", "e.g.", ",", "typical", "ictal", "phenomena", "without", "EEG", "abnormalities", ")", ",", "burden", "of", "developmental", "delay", ",", "spectrum", "of", "associated", "genetic", "abnormalities", ",", "pathogenesis", ",", "treatment", "options", ",", "and", "related", "outcome", "and", "prognosis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2653
[ "Aside", "the", "classical", "manifestations", ",", "IS", "or", "ES", "may", "present", "with", "atypical", "electroclinical", "phenotypes", "(", "e.g.", ",", "subtle", "spasms", ";", "modified", "hypsarrhythmia", ")", "and", "may", "have", "their", "onset", "outside", "infancy", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2654
[ "An", "increasing", "number", "of", "genes", ",", "proteins", ",", "and", "signaling", "pathways", "play", "crucial", "roles", "in", "the", "pathogenesis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2655
[ "This", "condition", "is", "currently", "regarded", "as", "a", "spectrum", "of", "disorders", ":", "the", "so", "-", "called", "infantile", "spasm", "syndrome", "(", "ISs", ")", ",", "in", "association", "with", "other", "causal", "factors", ",", "including", "structural", ",", "infectious", ",", "metabolic", ",", "syndromic", ",", "and", "immunologic", "events", ",", "all", "acting", "on", "a", "genetic", "predisposing", "background", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 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, 0 ]
2656
[ "Hormonal", "therapy", "and", "ketogenic", "diet", "are", "widely", "used", "also", "in", "combination", "with", "(", "classical", "and", "recent", ")", "pharmacological", "drugs", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2657
[ "Biologically", "targeted", "and", "gene", "therapies", "are", "increasingly", "studied", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2658
[ "The", "present", "narrative", "review", "searched", "in", "seven", "electronic", "databases", "(", "primary", "MeSH", "terms", "/", "keywords", "included", "West", "syndrome", ",", "infantile", "spasms", "and", "infantile", "spasms", "syndrome", "and", "were", "coupled", "to", "25", "secondary", "clinical", ",", "EEG", ",", "therapeutic", ",", "outcomes", ",", "and", "associated", "conditions", "terms", ")", "including", "MEDLINE", ",", "Embase", ",", "Cochrane", "Central", ",", "Web", "of", "Sciences", ",", "Pubmed", ",", "Scopus", ",", "and", "OMIM", "to", "highlight", "the", "past", "knowledge", "and", "more", "recent", "advances", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 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, 0, 0, 0, 0, 0, 0, 0, 0 ]
2659
[ "The", "urea", "cycle", "is", "a", "series", "of", "metabolic", "reactions", "that", "convert", "ammonia", "into", "urea", "in", "order", "to", "eliminate", "it", "from", "the", "body", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2660
[ "Urea", "cycle", "disorders", "are", "characterized", "by", "hyperammonemia", ",", "which", "can", "cause", "irreversible", "damages", "in", "central", "nervous", "system", "." ]
[ 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2661
[ "We", "report", "a", "series", "of", "three", "newborns", "presenting", "irritability", ",", "poor", "feeding", "and", "tachypnea", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2662
[ "Their", "first", "gas", "analysis", "revealed", "respiratory", "alkalosis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0 ]
2663
[ "Hyperammonemia", "was", "confirmed", ",", "and", "three", "different", "enzymatic", "blocks", "in", "the", "urea", "cycle", "were", "diagnosed", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2664
[ "Immediate", "treatment", "consisted", "in", "the", "removal", "of", "ammonia", "by", "reduction", "of", "the", "catabolic", "state", ",", "dietary", "adjustments", ",", "use", "of", "nitrogen", "scavenging", "agents", "and", "ultimately", "hemodiafiltration", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2665
[ "Hyperammonemia", "is", "a", "medical", "emergency", "whose", "treatment", "should", "not", "be", "delayed", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2666
[ "This", "report", "aims", "to", "highlight", "the", "importance", "of", "suspecting", "urea", "cycle", "disorders", "in", "newborns", "with", "aspecific", "signs", "of", "hyperammonemia", "and", "respiratory", "alkalosis", ",", "and", "to", "sum", "up", "the", "broad", "lines", "of", "hyperammonemia", "management", "." ]
[ 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 ]
2667
[ "Purpose", "The", "eye", "and", "its", "adnexal", "structures", "can", "give", "rise", "to", "first", "or", "consecutive", "primary", "malignancies", "or", "to", "encounter", "metastasis", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2668
[ "Our", "aim", "was", "to", "define", "the", "characteristics", "of", "the", "second", "primary", "neoplasms", "affecting", "the", "eye", "and", "its", "adnexa", "and", "find", "the", "risk", "modifying", "factors", "for", "them", "after", "malignancies", "elsewhere", "in", "the", "body", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2669
[ "Methods", "We", "have", "queried", "the", "Surveillance", ",", "Epidemiology", "and", "End", "-", "Results", "SEER-9", "program", "of", "the", "National", "Cancer", "Institute", "for", "the", "malignancies", "of", "the", "eye", "and", "its", "adnexa", "that", "occurred", "between", "1973", "and", "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, 11, 12, 12, 12, 0 ]
2670
[ "The", "malignancies", "were", "ordered", "chronologically", "according", "to", "their", "incidence", ":", "first", "or", "second", "primary", "malignancies", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0 ]
2671
[ "The", "tumors", "were", "classified", "according", "to", "ICD", "-", "O-3", "classification", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2672
[ "Standardized", "incidence", "ratios", "(", "SIR", ")", "and", "survival", "probabilities", "were", "calculated", "for", "subgroups", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2673
[ "Results", "Among", "3,578,950", "cancer", "patients", ",", "1203", "experienced", "a", "second", "malignancies", "of", "the", "eye", "and", "its", "adnexa", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2674
[ "The", "first", "malignancy", "was", "diagnosed", "between", "50", "and", "69", "years", "of", "age", "in", "58.94", "%", "of", "them", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2675
[ "The", "eyelid", "showed", "280", "events", ",", "while", "50", "in", "lacrimal", "gland", ",", "181", "in", "the", "orbit", ",", "21", "in", "the", "overlapping", "lesions", ",", "15", "in", "optic", "nerve", ",", "148", "in", "the", "conjunctiva", ",", "9", "in", "the", "cornea", ",", "6", "in", "the", "Retina", ",", "379", "in", "the", "choroid", ",", "and", "93", "in", "the", "ciliary", "body", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2676
[ "The", "SIR", "of", "a", "second", "malignancy", "after", "a", "prior", "non", "-", "Hodgkin", "lymphoma", "was", "2.42", ",", "and", "in", "case", "of", "previous", "skin", "carcinomas", "it", "was", "3.02", ",", "melanoma", "of", "skin", ",", "and", "2.13", "and", "1.58", "in", "oral", "cavity", "/", "pharynx", "malignancies", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 1, 2, 0 ]
2677
[ "The", "second", "ocular", "and", "adnexal", "neoplasms", "increased", "steadily", "over", "the", "5", "-", "year", "periods", "on", "contrary", "to", "first", "primary", "neoplasms", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2678
[ "The", "survival", "of", "patients", "affected", "with", "first", "ocular", "and", "adnexal", "neoplasms", "was", "significantly", "higher", "than", "those", "with", "second", "ocular", "and", "adnexal", "neoplasms", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2679
[ "On", "the", "other", "side", ",", "second", "primary", "ocular", "and", "adnexal", "tumors", "showed", "a", "better", "survival", "than", "second", "primary", "malignancies", "elsewhere", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2680
[ "Conclusions", "The", "epidemiological", "differences", "between", "first", "and", "second", "ocular", "and", "adnexal", "primaries", "suggest", "different", "underlying", "mechanisms", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2681
[ "Careful", "ocular", "examination", "should", "be", "integrated", "in", "the", "long", "-", "term", "follow", "-", "up", "plan", "of", "cancer", "patients", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2682
[ "Special", "attention", "should", "be", "given", "to", "patients", "with", "non", "-", "Hodgkin", "'s", "lymphoma", "and", "melanoma", "as", "first", "primary", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 1, 0, 0, 0, 0 ]
2683
[ "Background", "Primary", "immune", "deficiencies", "(", "PIDs", ")", "are", "a", "heterogeneous", "group", "of", "disorders", "resulting", "from", "defects", "in", "immune", "system", "." ]
[ 0, 1, 2, 2, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2684
[ "They", "lead", "to", "increased", "susceptibility", "to", "infections", "and", "immune", "dysregulation", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2685
[ "The", "resulting", "chronic", "inflammation", "can", "induce", "long", "-", "term", "complications", ",", "including", "AA", "amyloidosis", "(", "AAA", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 0, 0 ]
2686
[ "Objectives", "To", "present", "the", "French", "cases", "of", "PID", "-", "related", "AAA", "and", "perform", "a", "systematic", "literature", "review", "to", "determine", "its", "main", "features", "and", "predisposing", "factors", "." ]
[ 0, 0, 0, 0, 15, 0, 0, 3, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2687
[ "Methods", "A", "systematic", "literature", "review", "was", "performed", "by", "searching", "MEDLINE", "up", "until", "2019", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 0 ]
2688
[ "New", "French", "cases", "were", "identified", "with", "the", "help", "of", "the", "Reference", "Center", "for", "Auto", "-", "Inflammatory", "Diseases", "and", "AA", "Amyloidosis", "and", "the", "Reference", "Center", "for", "Hereditary", "Immune", "Deficiencies", "." ]
[ 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 ]
2689
[ "Results", "Forty", "patients", "were", "identified", "including", "2", "new", "French", "cases", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 15, 0, 0 ]
2690
[ "PIDs", "were", "varied", ":", "immunoglobulin", "deficits", "(", "n", "=", "30", ")", ",", "chronic", "granulomatous", "disease", "(", "n", "=", "3", ")", ",", "hyper", "-", "IgM", "syndrome", "(", "n", "=", "3", ")", ",", "hereditary", "complete", "C4", "deficiency", "(", "n", "=", "1", ")", ",", "leucocyte", "adhesion", "deficiency", "type", "1", "(", "n", "=", "1", ")", ",", "hyper", "-", "IgE", "syndrome", "(", "n", "=", "1", ")", ",", "and", "Chediak", "-", "Higashi", "syndrome", "(", "n", "=", "1", ")", "." ]
[ 3, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0 ]
2691
[ "The", "mean", "age", "at", "PID", "diagnosis", "was", "22.2", "±", "16.02", "years", "." ]
[ 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0 ]
2692
[ "Renal", "involvement", "was", "the", "most", "common", "manifestation", "of", "AAA", "(", "80", "%", ")", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0 ]
2693
[ "Infections", "were", "extremely", "heterogeneous", ";", "bacterial", "infection", "with", "pulmonary", "involvement", "was", "the", "most", "frequent", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2694
[ "Bronchiectasis", "was", "particularly", "common", "(", "52.5", "%", ")", "." ]
[ 1, 0, 0, 0, 0, 0, 0, 0, 0 ]
2695
[ "The", "delay", "between", "the", "first", "symptoms", "of", "PID", "and", "AAA", "diagnosis", "was", "16.18", "±", "7", "years", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 0, 0, 0 ]
2696
[ "Thirteen", "concomitant", "diagnoses", "were", "made", "." ]
[ 0, 0, 0, 0, 0, 0 ]
2697
[ "Twenty", "patients", "died", "during", "follow", "-", "up", "." ]
[ 0, 0, 0, 0, 0, 0, 0, 0 ]
2698
[ "Conclusion", "AAA", "is", "a", "rare", "life", "-", "threatening", "complication", "of", "PID", ",", "especially", "in", "cases", "of", "long", "diagnostic", "and", "therapeutic", "delays", "." ]
[ 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
2699
[ "Bronchiectasis", "should", "be", "considered", "as", "a", "warning", "sign", "of", "chronic", "inflammation", "and", "increased", "risk", "of", "AAA", "." ]
[ 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0 ]