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1.
J Parkinsons Dis ; 10(4): 1643-1648, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32741842

RESUMO

Neuropsychiatric symptoms are common in Parkinson's disease (PD). We investigated the relationship between neuropsychiatric symptoms and current and future diagnosis of PD dementia (PDD). Individuals with PD who had a study partner were enrolled (n = 696). Study partners were administered the Neuropsychiatric Inventory or Neuropsychiatric Inventory Questionnaire at baseline. Participants were assigned a cognitive diagnosis at baseline and follow up visits. Hallucinations were significantly associated with a diagnosis of PDD cross-sectionally (p < 0.001) and with shortened time to dementia longitudinally among initially nondemented participants (n = 444; p = 0.005). Screening for hallucinations may be useful for assessing risk of dementia in participants with PD.


Assuntos
Sintomas Comportamentais/fisiopatologia , Disfunção Cognitiva/fisiopatologia , Demência/fisiopatologia , Alucinações/fisiopatologia , Doença de Parkinson/fisiopatologia , Idoso , Sintomas Comportamentais/etiologia , Disfunção Cognitiva/etiologia , Estudos Transversais , Demência/diagnóstico , Demência/etiologia , Feminino , Alucinações/diagnóstico , Alucinações/etiologia , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações
2.
Ophthalmology ; 122(9): 1917-23, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26119001

RESUMO

PURPOSE: To present the association between mutations affecting the Wnt-signaling receptor protein (FZD4), inherited vitreoretinopathies, and retinopathy of prematurity (ROP). DESIGN: Retrospective analysis of prospective samples at a tertiary referral center. PARTICIPANTS: Patients referred to our practice for management of a variety of pediatric vitreoretinopathies were offered participation in an ophthalmic biobank (421 participants with vitreoretinopathies were included in this study). Full-term healthy infants (n = 98) were recruited to the study as controls. METHODS: Patients with various vitreoretinopathies were prospectively enrolled in an ophthalmic biobank, approved by the Human Investigation Committee at William Beaumont Hospital. Retrospective genetic analysis of the FZD4 gene was performed (Sanger sequencing). Participants with a diagnosis of familial exudative vitreoretinopathy (FEVR), Norrie disease, Coats' disease, bilateral persistent fetal vasculature, and ROP were reviewed for the presence of a FZD4 variant. Data retrieval included status of retinopathy (including staging when possible), gestational age (GA), birth weight (BW) (when available), and family and birth histories. MAIN OUTCOME MEASURES: The association of FZD4 variants with the presence of vitreoretinopathy. RESULTS: The sequence variation p.[P33S(;)P168S] is the most prevalent FZD4 variant and is statistically significant for ROP and FEVR (P = 4.6E-04 and P = 2.4E-03, respectively) compared with full-term newborns (P = 1.7E-01). In addition, infants expressing the sequence variation tended to have significantly lower BWs for respective GA (P = 0.04). This suggests that the FZD4 p.[P33S(;)P168S] variant may be a risk factor for retinopathy and restricted intrauterine growth. CONCLUSIONS: Testing for FZD4 gene mutations is useful in patients with suspected FEVR and ROP. The relatively high prevalence of the p.[P33S(;)P168S] variant in ROP and intrauterine growth restriction suggests that it also may be a marker for increased risk of developing ROP and preterm birth.


Assuntos
Retardo do Crescimento Fetal/genética , Receptores Frizzled/genética , Variação Genética , Retinopatia da Prematuridade/genética , Bancos de Espécimes Biológicos , Peso ao Nascer , Cegueira/congênito , Cegueira/genética , Oftalmopatias Hereditárias , Vitreorretinopatias Exsudativas Familiares , Doenças Genéticas Ligadas ao Cromossomo X , Marcadores Genéticos , Idade Gestacional , Humanos , Recém-Nascido , Mutação/genética , Doenças do Sistema Nervoso/genética , Vítreo Primário Hiperplásico Persistente/genética , Reação em Cadeia da Polimerase , Estudos Prospectivos , Degeneração Retiniana , Doenças Retinianas/genética , Telangiectasia Retiniana/genética , Estudos Retrospectivos , Espasmos Infantis/genética
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