RESUMO
OBJECTIVE: To characterize phenotypes of a novel CACNA1A mutation causing familial hemiplegic migraine type 1. BACKGROUND: Familial hemiplegic migraine is a rare monogenic form of migraine associated with attacks of fully reversible unilateral motor weakness. We now report a novel CACNA1A gene mutation associated with fully reversible bilateral motor weakness (diplegia). METHODS: The proband underwent genotyping which identified a novel CACNA1A missense mutation (c.622 [isoform 1] G > A [p.Gly208Arg]). To characterize phenotypes associated with this novel mutation, the proband and 8 of her similarly affected family members underwent a semi-structured interview. RESULTS: All 9 subjects who were interviewed met ICHD-3 phenotypic diagnostic criteria for FHM, including reporting attacks with reversible unilateral motor weakness. Additionally, 7 of 9 subjects reported attacks including reversible motor weakness affecting both sides of the body simultaneously. CONCLUSIONS: We describe a novel CACNA1A mutation associated with migraine attacks including reversible diplegia.
Assuntos
Canais de Cálcio/genética , Ataxia Cerebelar/genética , Ataxia Cerebelar/fisiopatologia , Transtornos de Enxaqueca/genética , Transtornos de Enxaqueca/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Debilidade Muscular/fisiopatologia , LinhagemRESUMO
PURPOSE: The incidence of human papillomavirus (HPV) associated head and neck cancers (HNCs) have been increasing in Peru. However, the burden of oral HPV infection in Peru has not been assessed. The objective of this cross-sectional study was to estimate the prevalence and correlates of oral HPV infection in a population-based sample from males and females from Lima, Peru. METHODS: Between January 2010 and June 2011, a population-based sample of 1099 individuals between the ages of 10 and 85 from a low-income neighbourhood in Lima, Peru was identified through random household sampling. Information on demographic, sexual behaviours, reproductive factors and oral hygiene were collected using interviewer-administered questionnaires. Oral rinse specimens were collected from each participant, and these specimens were genotyped using the Roche Linear Array assay. ORs were used to assess differences in the prevalence of any oral HPV and any high-risk oral HPV infection by demographic factors, sexual practices and oral hygiene among individuals 15+ years of age. RESULTS: The prevalence of any HPV and any high-risk HPV (HR-HPV) was 6.8% and 2.0%, respectively. The three most common types were HPV 55 (3.4%), HPV 6 (1.5%) and HPV 16 (1.1%). Male sex (aOR, 2.21; 95% CI 1.22 to 4.03) was associated with any HPV infection after adjustment. CONCLUSIONS: The prevalence of oral HPV in this study was similar to estimates observed in the USA. Higher prevalence of oral infections in males was consistent with a male predominance of HPV-associated HNCs and may signal a sex-specific aetiology in the natural history of infection.
Assuntos
Testes de DNA para Papilomavírus Humano/métodos , Boca/virologia , Neoplasias Orofaríngeas/epidemiologia , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Orofaríngeas/prevenção & controle , Neoplasias Orofaríngeas/virologia , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/prevenção & controle , Peru/epidemiologia , Prevalência , Fatores de Risco , Comportamento SexualRESUMO
The COVID-19 pandemic forced unprecedented challenges for emergency department operations during the spring of 2020. Before the COVID-19 pandemic, psychiatric boarding in emergency departments required a substantial amount of staffing and administrative resources. This case study describes one state's efforts to rapidly decrease psychiatric boarding by 93% in 2 weeks with a multipronged approach, and simultaneously minimal effects observed on outcome measures of psychiatric hospital readmissions and suicide rates. Lessons learned are discussed regarding workflow adaptations and leadership implications.