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1.
Parkinsonism Relat Disord ; 122: 106045, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38378310

RESUMO

INTRODUCTION: Chorea is primarily due to an imbalance of basal ganglia output pathways, often due to dysfunction or degeneration of the caudate nucleus and putamen, and can be due to many causes. METHODS: We reviewed the recent literature to identify newly-recognized causes of chorea, including auto-immune, metabolic, and genetic. We also focused upon developments in mechanisms relating to underlying pathophysiology of certain genetic choreas and advances in therapeutics. RESULTS: Novel autoantibodies continue to be identified as causes of chorea. Both COVID-19 infection and vaccination are reported to result rarely in chorea, although in some cases causality is not clearly established. Advances in genetic testing continue to find more causes of chorea, and to expand the phenotype of known genetic disorders. Deep brain stimulation can be successful in certain circumstances. CONCLUSION: Our understanding of mechanisms underlying this movement disorder continues to advance, however much remains to be elucidated.


Assuntos
Coreia , Humanos , Coreia/etiologia , Coreia/fisiopatologia , Coreia/terapia , COVID-19/complicações , Estimulação Encefálica Profunda , Autoanticorpos/imunologia
2.
Semin Neurol ; 43(1): 65-80, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36882120

RESUMO

Chorea is a hyperkinetic movement disorder with a multitude of potential etiologies, both acquired and inherited. Although the differential diagnosis for new-onset chorea is extensive, there are often clues in the history, exam, and basic testing that can help to narrow the options. Evaluation for treatable or reversible causes should take priority, as rapid diagnosis can lead to more favorable outcomes. While Huntington's disease is most common genetic cause of chorea, multiple phenocopies also exist and should be considered if Huntington gene testing is negative. The decision of what additional genetic testing to pursue should be based on both clinical and epidemiological factors. The following review provides an overview of the many possible etiologies as well as a practical approach for a patient presenting with new-onset chorea.


Assuntos
Coreia , Doença de Huntington , Humanos , Coreia/etiologia , Coreia/genética , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Doença de Huntington/complicações , Testes Genéticos , Diagnóstico Diferencial , Fenótipo
3.
Mult Scler ; 22(11): 1438-1443, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27542703

RESUMO

BACKGROUND: Fatigue is a prevalent and functionally disabling symptom for individuals living with multiple sclerosis (MS) which is poorly understood and multifactorial in etiology. Bladder dysfunction is another common MS symptom which limits social engagement and quality of life. To manage bladder issues, individuals with MS tend to limit their fluid intake, which may contribute to a low-hydration (LoH) state and fatigue. OBJECTIVE: To evaluate the relationship between patient-reported MS fatigue, bladder dysfunction, and hydration status. METHODS: We performed a prospective cross-sectional study in 50 women with MS. Participants submitted a random urine sample and completed several fatigue-related surveys. Using a urine specific gravity (USG) threshold of 1.015, we classified MS subjects into two groups: high-hydration (HiH) and LoH states. RESULTS: LoH status was more common in MS subjects with bladder dysfunction. Statistically significant differences in self-reported Fatigue Performance Scale were observed between HiH and LoH subjects (p = 0.022). USG was significantly correlated with fatigue as measured by the MS Fatigue Severity Scale (FSS) score (r = 0.328, p = 0.020). CONCLUSION: Hydration status correlates with self-reported fatigue, with lower fatigue scores found in those with HiH status (USG < 1.015).


Assuntos
Desidratação/fisiopatologia , Esclerose Múltipla/fisiopatologia , Bexiga Urinaria Neurogênica/fisiopatologia , Equilíbrio Hidroeletrolítico , Adulto , Estudos Transversais , Desidratação/epidemiologia , Comportamento de Ingestão de Líquido , Fadiga , Feminino , Humanos , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Estudos Prospectivos , Índice de Gravidade de Doença , Bexiga Urinaria Neurogênica/epidemiologia , Incontinência Urinária/epidemiologia , Incontinência Urinária/fisiopatologia
4.
Case Rep Infect Dis ; 2015: 132317, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26618012

RESUMO

Granulicatella adiacens is a Gram-positive coccus, formerly grouped with nutritionally variant Streptococcus, often found as commensal bacteria of the human oral cavity, urogenital tract, and gastrointestinal tract. Prior case reports have demonstrated Granulicatella spp. as a pathogen that can cause bacteremia and infective endocarditis particularly of prosthetic valves and pacemaker leads. Here, we report on a unique case of Granulicatella adiacens bacterascites in a 50-year-old male.

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