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1200
[ "Excluding", "patients", "with", "PERM", ",", "all", "patients", "but", "1", "had", "sustained", "improvements", "with", "at", "least", "1", "γ", "-", "aminobutyric", "acid", "agent", ",", "usually", "diazepam", ";", "the", "median", "dosage", "for", "patients", "with", "classic", "SMS", "was", "40.0", "mg", "/", "d." ]
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1201
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1202
[ "Sixteen", "of", "25", "patients", "(", "64", "%", ")", "with", "extended", "follow", "-", "up", "duration", "remained", "ambulatory", "." ]
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1203
[ "Conclusions", "Recognition", "of", "classic", "SMS", "vs", "variants", "is", "important", "because", "appropriate", "therapy", "improves", "symptoms", "in", "most", "patients", "." ]
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1204
[ "Classification", "by", "anatomical", "extent", "and", "by", "GAD65", "antibody", "serostatus", "gives", "important", "diagnostic", "and", "prognostic", "information", "." ]
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1205
[ "Cutaneous", "squamous", "cell", "carcinoma", "(", "cSCC", ")", "is", "the", "second", "most", "prevalent", "skin", "cancer", "globally", "." ]
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1206
[ "Because", "most", "cSCC", "cases", "are", "manageable", "by", "local", "excision", "/", "radiotherapy", "and", "hardly", "become", "life", "-", "threatening", ",", "they", "are", "often", "excluded", "from", "cancer", "registries", "in", "most", "countries", "." ]
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1207
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1208
[ "Congenital", "or", "acquired", "immunosurveillance", "impairments", "compromise", "tumoricidal", "activity", "and", "raises", "cSCC", "incidence", "rates", "." ]
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1209
[ "Intriguingly", ",", "expanded", "applications", "of", "programmed", "death-1", "(", "PD-1", ")", "blockade", "therapies", "have", "revealed", "cSCC", "to", "be", "one", "of", "the", "most", "amenable", "targets", ",", "particularly", "when", "compared", "with", "the", "mucosal", "counterparts", "arisen", "in", "the", "esophagus", "or", "the", "cervix", "." ]
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1210
[ "The", "clinical", "observation", "reminds", "us", "that", "cutaneous", "tissue", "has", "a", "peculiarly", "high", "immunogenicity", "that", "can", "evoke", "tumoricidal", "recall", "responses", "topically", "." ]
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1211
[ "Here", "we", "attempt", "to", "redefine", "cSCC", "biology", "and", "review", "current", "knowledge", "about", "cSCC", "from", "multiple", "viewpoints", "that", "involve", "epidemiology", ",", "clinicopathology", ",", "molecular", "genetics", ",", "molecular", "immunology", ",", "and", "developmental", "biology", "." ]
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1212
[ "This", "synthesis", "not", "only", "underscores", "the", "primal", "importance", "of", "the", "immune", "system", ",", "rather", "than", "just", "a", "mere", "accumulation", "of", "ultraviolet", "-", "induced", "mutations", "but", "also", "reinforces", "the", "following", "hypothesis", ":", "PD-1", "blockade", "effectively", "restores", "the", "immunity", "specially", "allowed", "to", "exist", "within", "the", "fully", "cornified", "squamous", "epithelium", ",", "that", "is", ",", "the", "epidermis", "." ]
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1213
[ "Aim", "To", "investigate", "the", "point", "prevalence", "of", "hereditary", "neuromuscular", "disorders", "on", "January", "1", ",", "2020", "in", "Northern", "Norway", "." ]
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1214
[ "Methods", "From", "January", "1", ",", "1999", ",", "until", "January", "1", ",", "2020", ",", "we", "screened", "medical", "and", "genetic", "hospital", "records", "in", "Northern", "Norway", "for", "hereditary", "neuromuscular", "disorders", "." ]
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1215
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1216
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1217
[ "Inherited", "neuropathies", "had", "a", "prevalence", "of", "38.8/100,000", "." ]
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1218
[ "Charcot", "-", "Marie", "-", "Tooth", "and", "hereditary", "neuropathy", "with", "liability", "to", "pressure", "palsies", "had", "a", "prevalence", "of", "29.9/100,000", "and", "8.3/100,000", ",", "respectively", "." ]
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1219
[ "We", "calculated", "a", "prevalence", "of", "3.7/100,000", "for", "spinal", "muscular", "atrophies", "and", "2.4/100,000", "for", "Kennedy", "disease", "." ]
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1220
[ "Inherited", "myopathies", "were", "found", "in", "67.7/100,000", "." ]
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1221
[ "Among", "these", ",", "we", "registered", "13.4/100,000", "myotonic", "dystrophy", "type", "1", ",", "6.8/100,000", "myotonic", "dystrophy", "type", "2", ",", "7.3/100,000", "Duchenne", "muscular", "dystrophy", ",", "1.6/100,000", "Becker", "muscular", "dystrophy", ",", "3.7/100,000", "facioscapulohumeral", "muscular", "dystrophy", ",", "12.8/100,000", "limb", "-", "girdle", "muscular", "dystrophy", ",", "2.5/100,000", "hypokalemic", "periodic", "paralysis", "and", "11.4/100,000", "myotonia", "congenita", "." ]
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1222
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1223
[ "The", "prevalence", "was", "especially", "high", "for", "myotonia", "congenita", "and", "limb", "-", "girdle", "muscular", "dystrophy", "." ]
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1224
[ "The", "prevalence", "of", "Charcot", "-", "Marie", "-", "Tooth", "polyneuropathy", "was", "higher", "than", "in", "most", "European", "studies", ",", "but", "lower", "than", "previously", "reported", "in", "epidemiological", "studies", "in", "other", "regions", "of", "Norway", "." ]
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1225
[ "About", "30", "%", "of", "patients", "with", "MEN1", "develop", "a", "Zollinger", "-", "Ellison", "syndrome", "." ]
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1226
[ "Meanwhile", "it", "is", "well", "established", "that", "the", "causative", "gastrinomas", "are", "almost", "exclusively", "localized", "in", "the", "duodenum", "and", "not", "in", "the", "pancreas", ",", "MEN1", "gastrinomas", "occur", "multicentric", "and", "are", "associated", "with", "hyperplastic", "gastrin", "cell", "lesions", "and", "tiny", "gastrin", "-", "producing", "micro", "tumors", "in", "contrast", "to", "sporadic", "duodenal", "gastrinomas", "." ]
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1227
[ "Regardless", "of", "the", "high", "prevalence", "of", "early", "lymphatic", "metastases", ",", "the", "survival", "is", "generally", "good", "with", "an", "aggressive", "course", "of", "disease", "in", "only", "about", "20", "%", "of", "patients", "." ]
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1228
[ "Symptoms", "can", "be", "controlled", "medically", "." ]
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1229
[ "The", "indication", ",", "timing", ",", "type", ",", "and", "extent", "of", "surgery", "are", "highly", "controversial", "and", "are", "discussed", "in", "detail", "in", "this", "article", "by", "a", "thorough", "and", "critical", "review", "of", "literature", "." ]
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1230
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1231
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1232
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1233
[ "Genetic", "services", "including", "all", "activities", "for", "the", "diagnosis", ",", "care", ",", "and", "prevention", "of", "genetic", "diseases", "at", "community", "level", "are", "extremely", "inadequate", "." ]
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1234
[ "Services", "are", "limited", "to", "some", "clinical", "and", "laboratory", "diagnostic", "services", "with", "no", "genetic", "counseling", "." ]
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1235
[ "These", "services", "are", "localized", "within", "the", "capital", "thus", "preventing", "their", "accessibility", "to", "high", "-", "risk", "communities", "." ]
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1236
[ "Screening", "programs", ",", "which", "are", "at", "the", "core", "of", "public", "health", "prevention", "services", ",", "are", "minimal", "and", "not", "nationally", "mandated", "." ]
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1237
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1238
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1239
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1240
[ "Background", "Congenital", "malformations", "involving", "the", "Müllerian", "ducts", "are", "observed", "in", "around", "5", "%", "of", "infertile", "women", "." ]
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1241
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1242
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1243
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1244
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1245
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1246
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1247
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1248
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1249
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1250
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1251
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1252
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1253
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1254
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1255
[ "Two", "-", "point", "and", "multipoint", "linkage", "analyses", "were", "performed", "and", "the", "candidate", "region", "refined", "by", "analyzing", "additional", "markers", "." ]
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1256
[ "A", "multipoint", "LOD(max", ")", "score", "of", "2.068", "was", "obtained", "between", "markers", "DXS991", "and", "DXS993", "." ]
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1257
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1258
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1259
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1260
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1261
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1262
[ "Methods", "A", "dual", "population", "-", "based", "approach", "was", "applied", "with", "1", ")", "primary", "data", "obtained", "between", "2004", "and", "2014", "from", "dermatological", "exams", "in", "the", "general", "working", "population", ";", "2", ")", "claims", "data", "from", "a", "large", "German", "statutory", "health", "insurance", ",", "reference", "year", "2010", "." ]
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1263
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1264
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1265
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1266
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1267
[ "Conclusion", "The", "resulting", "discrepancy", "of", "claims", "vs", "primary", "data", "between", "0.17", "%", "and", "0.77", "%", "indicates", "the", "most", "probable", "spectrum", "of", "vitiligo", "prevalence", "in", "Germany", "." ]
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1268
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1269
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1270
[ "Background", "Unilateral", "lung", "agenesis", "is", "an", "uncommon", "congenital", "abnormality", ",", "with", "a", "lack", "of", "reported", "accurate", "incidence", "estimates", "." ]
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1271
[ "Prognosis", "is", "also", "uncertain", ",", "with", "older", "literature", "reporting", "poor", "outcomes", "." ]
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1272
[ "Methods", "The", "North", "of", "England", "register", "of", "congenital", "anomalies", "(", "Northern", "Congenital", "Abnormality", "Survey", ")", "records", "cases", "of", "congenital", "anomalies", "to", "mothers", "'", "resident", "in", "the", "region", "." ]
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1273
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1274
[ "Results", "Four", "patients", "with", "congenital", "lung", "agenesis", "were", "born", "during", "the", "study", "period", ",", "giving", "an", "estimated", "incidence", "in", "the", "North", "of", "England", "of", "1.22", "per", "100,000", "live", "births", "(", "95", "%", "confidence", "interval", ",", "0.33", "-", "3.11", ")", "." ]
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1275
[ "Two", "patients", "had", "associated", "congenital", "heart", "disease", "requiring", "corrective", "surgery", ",", "and", "one", "had", "musculoskeletal", "anomalies", "." ]
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1276
[ "All", "four", "patients", "are", "alive", "and", "well", "without", "a", "regular", "oxygen", "requirement", "." ]
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1277
[ "Conclusion", "Contrary", "to", "previous", "reports", ",", "the", "medium", "term", "outcomes", "in", "our", "patients", "have", "been", "good", ",", "even", "when", "lung", "agenesis", "is", "associated", "with", "other", "congenital", "anomalies", "." ]
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1278
[ "Long", "-", "term", "prognosis", "with", "modern", "management", "remains", "unknown", ",", "and", "the", "potential", "for", "the", "development", "of", "pulmonary", "hypertension", "remains", "a", "concern", "." ]
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1279
[ "The", "disease", "and", "the", "case", "reported", "here", "are", "relevant", "especially", "because", "of", "their", "varied", "clinical", "presentation", ",", "possibility", "of", "being", "associated", "with", "other", "disorders", "affecting", "several", "organs", "and", "possible", "differential", "diagnoses", "." ]
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1280
[ "Congenital", "Hepatic", "Fibrosis", "is", "an", "autosomal", "recessive", "disease", "due", "to", "mutation", "in", "the", "PKHD1", "gene", ",", "which", "encodes", "the", "fibrocystin", "/", "polyductine", "protein", "." ]
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1281
[ "It", "is", "a", "cholangiopathy", ",", "characterized", "by", "varying", "degrees", "of", "periportal", "fibrosis", "and", "irregular", "proliferation", "of", "bile", "ducts", "." ]
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1282
[ "Affected", "patients", "are", "typically", "diagnosed", "in", "childhood", ",", "but", "in", "some", "cases", "the", "disease", "may", "remain", "asymptomatic", "for", "many", "years", "." ]
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1283
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1284
[ "It", "can", "affect", "all", "ethnic", "groups", "and", "occur", "associated", "with", "various", "hereditary", "and", "non", "-", "hereditary", "disorders", "." ]
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1285
[ "The", "clinical", "presentation", "is", "quite", "variable", ",", "with", "melena", "and", "hematemesis", "being", "initial", "symptoms", "in", "30%-70", "%", "of", "the", "cases", "." ]
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1286
[ "More", "rarely", ",", "they", "may", "present", "episodes", "of", "cholangitis", "." ]
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1287
[ "The", "disease", "has", "been", "classified", "into", "four", "types", ":", "portal", "hypertension", ",", "cholestasis", "/", "cholangitis", ",", "mixed", "and", "latent", "." ]
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1288
[ "Diagnosis", "begins", "with", "imaging", "tests", ",", "but", "the", "definition", "is", "made", "by", "the", "histopathological", "sample", "." ]
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1289
[ "So", "far", ",", "there", "is", "no", "specific", "therapy", "that", "can", "stop", "or", "reverse", "the", "pathological", "process", "." ]
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1290
[ "Currently", ",", "the", "therapeutic", "strategy", "is", "to", "treat", "the", "complications", "of", "the", "disease", "." ]
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1291
[ "Impetigo", "is", "a", "common", "superficial", "bacterial", "infection", "of", "the", "skin", ",", "with", "a", "global", "disease", "burden", "of", "greater", "than", "140", "million", "." ]
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1292
[ "Children", "are", "more", "affected", "than", "adults", "and", "incidence", "decreases", "with", "age", "." ]
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1293
[ "Principal", "pathogens", "implicated", "include", "Staphylococcus", "aureus", "and", "Streptococcus", "pyogenes", "." ]
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1294
[ "There", "are", "two", "common", "variants", "of", "impetigo", ":", "nonbullous", "(", "70", "%", ")", "and", "bullous", "(", "30", "%", ")", "." ]
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1295
[ "Nonbullous", "impetigo", "is", "caused", "by", "S.", "aureus", "and", "S.", "pyogenes", "whereas", "bullous", "impetigo", "is", "caused", "by", "S.", "aureus", "." ]
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1296
[ "The", "classic", "appearance", "of", "distinctive", "honey", "-", "colored", ",", "crusted", "legions", "aids", "in", "diagnosis", ",", "which", "is", "most", "often", "based", "on", "clinical", "presentation", "." ]
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1297
[ "The", "disease", "is", "generally", "mild", "and", "felt", "to", "be", "self", "-", "limited", ";", "however", ",", "antimicrobial", "treatment", "is", "often", "initiated", "to", "reduce", "spread", "and", "shorten", "clinical", "course", "." ]
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1298
[ "Treatment", "for", "limited", "impetigo", "is", "topical", "whereas", "oral", "therapy", "is", "recommended", "for", "extensive", "cases", "." ]
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1299
[ "Rising", "rates", "of", "bacterial", "resistance", "to", "standard", "treatment", "regimens", "should", "inform", "treatment", "decisions", "." ]
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