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1.
Mol Psychiatry ; 18(6): 721-8, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22889924

RESUMO

Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P<5 × 10(-8)); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (P=1.85 × 10(-6)). A secondary analysis including an additional 211 cases and 285 controls from two closely related Latin American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (P=3.6 × 10(-7) for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.


Assuntos
Colágenos Fibrilares/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Síndrome de Tourette/genética , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Estudos de Casos e Controles , Cromossomos Humanos Par 9/genética , Feminino , Genótipo , Humanos , Cooperação Internacional , Masculino , Metanálise como Assunto , Transtorno Obsessivo-Compulsivo/etiologia , Transtorno Obsessivo-Compulsivo/genética , Síndrome de Tourette/complicações , População Branca/genética , Adulto Jovem
2.
J Am Dent Assoc ; 100(6): 884-8, 1980 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-6991580

RESUMO

A variety of pain syndromes of the face can arise from extradental pathologic conditions that can, at times, be confusing. Awareness of pain syndromes of neurologic origin that can mimic pathologic dental conditions is helpful. When doubt persists, rather than extract or endodontically treat a tooth, injection of a local anesthetic to the most sensitive areas can be a helpful diagnostic test. We recognize that there are many entities, including dental and temporomandibular joint syndromes, that much more often account for facial pain. However, we believe that those who most often treat these patients should also be aware of some of the advances in the understanding of the causes and treatment of the neurologic syndromes that can mimic pathologic oral conditions.


Assuntos
Face , Doenças da Boca/diagnóstico , Dor/diagnóstico , Adulto , Idoso , Cefaleia Histamínica/diagnóstico , Diagnóstico Diferencial , Feminino , Nervo Glossofaríngeo , Humanos , Masculino , Pessoa de Meia-Idade , Neuralgia/diagnóstico , Neuralgia/tratamento farmacológico , Dor/etiologia , Dor/prevenção & controle , Manejo da Dor , Doenças dos Seios Paranasais/diagnóstico , Estresse Fisiológico/complicações , Odontalgia/diagnóstico , Neuralgia do Trigêmeo/diagnóstico , Neuralgia do Trigêmeo/tratamento farmacológico , Neuralgia do Trigêmeo/etiologia , Neuralgia do Trigêmeo/fisiopatologia , Neuralgia do Trigêmeo/cirurgia
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