RESUMO
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder leading to progressive paralysis. ALS is complicated by a number of non-motor symptoms including pain. Pain in ALS has been poorly studied and poorly managed. This study aimed to collate information regarding pain in ALS using standardized pain questionnaires. Forty-two patients with ALS participated in the study. Control subjects included 41 age-matched healthy volunteers and 42 age-matched patients with neurological conditions other than ALS. Data on pain were collected using the The Brief Pain Inventory and The painDetect Questionnaire. Eighty-five percent of subjects with ALS reported pain versus 50% of neurology clinic controls and 35% of healthy controls (p < 0.01). Pain in ALS included cramping, aching, tiring, sharp and tender, and was non-neuropathic. Pain impacted significantly on mood, general activity, relationships and general enjoyment of life. Fifty-four percent of people with painful ALS used regular analgesia and 29% regular opioids. Other non-motor symptoms suffered included tiredness, constipation, urinary problems, itching and drowsiness. In conclusion, these data support the fact that pain is a significant symptom in ALS which impacts on quality of life. These data can be used to educate clinicians and patients to promote better multidisciplinary management of ALS symptoms and a better quality of life.
Assuntos
Esclerose Lateral Amiotrófica/complicações , Dor/diagnóstico , Dor/etiologia , Atividades Cotidianas , Adulto , Idoso , Idoso de 80 Anos ou mais , Analgesia/métodos , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Observação , Dor/tratamento farmacológico , Dor/psicologia , Medição da DorRESUMO
ALS is a progressive neurodegenerative disease. The stage of disease reached can be described using a simple system based on the number of central nervous system regions involved. Historically, datasets have not attempted to record clinical stage, but being able to re-analyse the data by stage would have several advantages. We therefore explored the possibility of using an algorithm based on the revised ALS Functional Rating Scale (ALSFRS-R), which is commonly used in clinical practice, to estimate clinical stage. We devised an algorithm to convert ALSFRS-R score into clinical stage. ALSFRS-R domains were mapped to equivalent CNS regions. Stage 4 is reached when gastrostomy or non- invasive ventilation is needed, but as a proxy we used provision. We collected ALSFRS-R from clinic visits, and compared the estimation of clinical stage from the ALSFRS-R with the actual stage. Results showed that the agreement between staging by the two methods was excellent with an intraclass correlation coefficient of 0.92 (95% confidence interval 0.88-0.94). There was no systematic bias towards over-staging or under-staging using the algorithm. In conclusion, we have shown that clinical stage in ALS can be reliably estimated using the ALSFRS-R in historical data and in current data where stage has not been recorded.
Assuntos
Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/diagnóstico , Transtornos Respiratórios/etiologia , Algoritmos , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ventilação não Invasiva , Transtornos Respiratórios/terapia , Índice de Gravidade de Doença , Estatística como AssuntoRESUMO
Gastrostomy and noninvasive ventilation (NIV) are recommended interventions for the management of symptoms associated with amyotrophic lateral sclerosis (ALS). This study aimed to quantify the views of a range of healthcare professionals (HCPs) on the provision of these interventions in the United Kingdom. A total of 177 HCPs participated in an online survey. Significant differences were found between medical and allied HCPs' views on: whether HCPs adhere to policy and accept legal constraints when it comes to making gastrostomy available to people with ALS; the impressions that HCPs receive of the way patients and caregivers understand the effects of gastrostomy and NIV on symptoms and quality of life; and the challenges HCPs face when caring for patients who have refused gastrostomy. More widely available guidelines for the provision of gastrostomy and advice on the best way to impart information to patients and caregivers about gastrostomy and NIV appear to be needed.
Assuntos
Esclerose Lateral Amiotrófica/complicações , Atitude do Pessoal de Saúde , Gastrostomia/estatística & dados numéricos , Ventilação não Invasiva/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Adulto , Pessoal Técnico de Saúde/psicologia , Inglaterra , Feminino , Humanos , Masculino , Irlanda do Norte , Cuidados Paliativos , Qualidade de Vida , Inquéritos e Questionários , País de GalesRESUMO
Chromosome (chr) X is under-represented in current maps of the genome of the domestic dog ( Canis familiaris). To address this problem, we have constructed a small-insert, genomic DNA library in pBluescript from flow-sorted canine Chr X DNA. Fluorescence in situ hybridization (FISH) studies confirmed that the library was highly enriched for Chr X. Clones containing microsatellites were identified and sequenced. Database searches detected significant sequence identity between four X-derived clones and genes previously characterized in other species. Thirty-seven markers derived from these clones were mapped on Chr X by FISH, and of these, 28 were mapped by using the female-derived T72 whole-genome radiation hybrid (RH) panel (Research Genetics). Four X-linked canine genes from publicly available data were also mapped. Eight RH linkage groups with LOD >4.0 were identified, and FISH data were used to locate the groups on the chromosome; four groups could be unambiguously orientated by FISH data. In each case, the FISH and RH data were mutually consistent. The data suggest strongly conserved synteny between canine and human X Chrs. The pseudoautosomal region has been further characterized, and the putative or actual locations of nine genes of clinical relevance have been suggested.