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1.
Ann Clin Transl Neurol ; 10(4): 484-496, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36738194

RESUMO

BACKGROUND: Autism spectrum disorders (ASD) comprise many complex and clinically distinct neurodevelopmental conditions, with increasing evidence linking them to parkinsonism. METHODS: We searched Medline and Embase from inception to 21 March 2022 and reviewed the bibliographies of relevant articles. Studies were screened and reviewed comprehensively by two independent authors. RESULTS: Of 863 references from our search, we included eight clinical studies, nine genetic studies, and five case reports. Regardless of age group, Parkinson's disease (PD) and parkinsonian syndromes were more frequently observed in patients with ASD, though the evidence for increased rates of parkinsonism is less clear for children and adolescents. Parkinsonian features and hypokinetic behavior were common in Rett syndrome, with prevalence estimates ranging from 40% to 80%. Frequently observed parkinsonian features include bradykinesia, rigidity, hypomimia, and gait freezing. PD gene PARK2 copy number variations appear more frequently in ASD cases than controls. Evidence suggests that RIT2 and CD157/BST1 are implicated in ASD and PD, while the evidence for other PD-related genes (DRD2, GPCR37, the SLC gene family, and SMPD1) is less clear. Rare mutations, such as ATP13A2, CLN3, and WDR45, could result in autistic behavior and concomitant parkinsonism. CONCLUSION: The prevalence of parkinsonism in ASD is substantially greater than in the general population or matched controls. Various PD-associated gene loci, especially PARK2, could confer susceptibility to ASD as well. Important future directions include conducting prospective cohort studies to understand how parkinsonian symptoms may progress, genetic studies to reveal relevant gene loci, and pathophysiologic studies to identify potential therapeutic targets.


Assuntos
Transtorno do Espectro Autista , Doença de Parkinson , Transtornos Parkinsonianos , Criança , Adolescente , Humanos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/complicações , Estudos Prospectivos , Variações do Número de Cópias de DNA , Transtornos Parkinsonianos/epidemiologia , Transtornos Parkinsonianos/genética , Doença de Parkinson/complicações , Doença de Parkinson/epidemiologia , Doença de Parkinson/genética , Glicoproteínas de Membrana/genética , Chaperonas Moleculares/genética , Proteínas de Transporte/genética
2.
Front Cardiovasc Med ; 9: 936498, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36186990

RESUMO

Objective: To investigate the incidence, risk factors, and association with cardiovascular outcomes of patients who developed symptomatic intracerebral hemorrhage (ICH) after non-emergency percutaneous coronary intervention (PCI). Methods: We conducted a single-institution retrospective study of patients who developed symptomatic ICH after non-emergency PCI. To identify associations between clinical variables and outcomes, Cox-proportional hazards regression models were constructed. Outcomes analyzed include (1) all-cause mortality, (2) acute ischemic stroke (AIS) or transient ischemic attack (TIA), and (3) major adverse cardiovascular events (MACE). Results: A total of 1,732 patients were included in the analysis. The mean (±SD) age was 61.1 (±11.3) years, and 1,396 patients (80.6%) were male. The cumulative incidence of symptomatic ICH after non-emergency PCI was 1.3% (22 patients). Age, chronic kidney disease, and prior coronary artery bypass graft surgery were independently associated with a higher risk of ICH after PCI, while hyperlipidemia was independently associated with a lower risk of ICH after PCI. ICH after PCI was independently associated with a higher risk of all-cause mortality and AIS or TIA after PCI. Conclusion: Patients who are older, who have chronic kidney disease, and who have had prior coronary artery bypass graft surgery should be monitored for symptomatic ICH after non-emergency PCI.

3.
Campbell Syst Rev ; 17(2): e1168, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37051181

RESUMO

This systematic review aims to answer the following research questions: (1) What are the existing community-based interventions for initiating advance care planning (ACP) conversations and quality end-of-life (EoL) planning behaviours in nonterminally ill adults internationally? (2) What are the effects of community-based interventions on the initiation of ACP conversations and EoL planning behaviours of nonterminally ill adults in the community?

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