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1.
Prim Care ; 51(2): 299-310, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38692776

RESUMO

Sleep significantly impacts health. Insomnia, characterized by difficulty with sleep onset, maintenance, and subsequent daytime symptoms, is increasingly prevalent and increases the risk of other medical comorbidities. The pathophysiology involves hyperarousal during non-REM sleep and altered sleep homeostasis. The 3P model explains the development and persistence of insomnia. Assessment is primarily clinical and based on appropriate history while distinguishing from other sleep disorders. "Somnomics" suggests a personalized approach to management. Cognitive behavioral therapy for insomnia is the first-line treatment in addition to other nonpharmacological strategies. Medications are a secondary option with weak supporting evidence.


Assuntos
Terapia Cognitivo-Comportamental , Distúrbios do Início e da Manutenção do Sono , Humanos , Distúrbios do Início e da Manutenção do Sono/terapia , Distúrbios do Início e da Manutenção do Sono/diagnóstico , Distúrbios do Início e da Manutenção do Sono/fisiopatologia , Atenção Primária à Saúde/organização & administração , Hipnóticos e Sedativos/uso terapêutico
2.
Neurology ; 99(21): 957-961, 2022 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-36127142

RESUMO

A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features. However, on closer inspection, her abnormal extraocular eye movements suggested rare mimicking disorders such as prion disease as part of the differential diagnosis, requiring further evaluation. This case highlights how deep phenotyping can open new diagnostic considerations, inform additional workup, and yield the precise diagnosis of Gerstmann-Sträussler-Scheinker syndrome (GSS).


Assuntos
Ataxia Cerebelar , Doença de Gerstmann-Straussler-Scheinker , Transtornos da Motilidade Ocular , Humanos , Feminino , Pessoa de Meia-Idade , Doença de Gerstmann-Straussler-Scheinker/diagnóstico , Doença de Gerstmann-Straussler-Scheinker/genética , Movimentos Oculares , Transtornos da Motilidade Ocular/diagnóstico , Ataxia
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