RESUMO
Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole-exome sequencing. We identified HSPB1 variants in 1.3% (13 of 1,030) of the patients with IPNs, who exhibited a male predominance. Based on neurological and electrophysiological findings, seven patients were diagnosed with CMT disease type 2F, whereas the remaining six patients were diagnosed with distal hereditary motor neuropathy type 2B. P39L, R127W, S135C, R140G, K141Q, T151I, and P182A mutations identified in 12 patients were described previously, whereas a novel K123* variant with unknown significance was found in 1 patient. Diabetes and impaired glucose tolerance were detected in 6 of the 13 patients. Our findings suggest that HSPB1 mutations result in two phenotypes of inherited neuropathies and extend the phenotypic spectrum of HSPB1-related disorders.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Proteínas de Choque Térmico HSP27/genética , Atrofia Muscular Espinal/genética , Idoso , Feminino , Proteínas de Choque Térmico , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Chaperonas Moleculares , Mutação , LinhagemRESUMO
Many medical doctors regard the end stage and palliative care of neurological intractable diseases as the point at which aggressive treatment should be interrupted and death is imminent. However, the definition of health by the World Health Organization as the physical, psychological, and social goal to achieve a fully favorable health condition should be revisited. In the real clinical setting, the health condition, as the ability to adapt and self-manage in the face of social, physical, and emotional challenges with the aim to overcome stress (resilience), is dynamic and involves a healthy condition and satisfaction with one's own living. The most important step in palliative therapy that is shared by neurologists is the maintenance of the health status with the help of multi-disciplinary team with the view to improving the quality of life.
Assuntos
Doenças do Sistema Nervoso Central/terapia , Serviços de Assistência Domiciliar , Cuidados Paliativos , Cuidadores , Humanos , Equipe de Assistência ao Paciente , Qualidade de Vida , Apoio SocialRESUMO
The community has important roles in the community based medicine and home care systems along with the differentiation of the functions of medical institutions. Patients under home care receive care of their family, the friends, community home care services and medical care by healthcare professionals. Patients can live in the community under medical care in a different category from in-hospital care. Community based medicine is the manifestation of healthcare supporting people who live. Healthcare professionals involved in community based medicine are required to give medical education and cooperate with community welfare works apart from medical care in the community.
Assuntos
Serviços de Saúde Comunitária/métodos , Serviços de Assistência Domiciliar , Cuidadores , Serviços de Saúde Comunitária/organização & administração , Serviços de Assistência Domiciliar/estatística & dados numéricos , Humanos , Japão , Avaliação das Necessidades , Papel do Médico , Apoio SocialRESUMO
The community has important roles in the community based medicine and home care systems along with the differentiation of the functions of medical institutions. Patients under home care receive care of their family, the friends, community home care services and medical care by healthcare professionals. Patients can live in the community under medical care in a different category from in-hospital care. Community based medicine is the manifestation of healthcare supporting people who live. Healthcare professionals involved in community based medicine are required to give medical education and cooperate with community welfare works apart from medical care in the community.
