RESUMO
BACKGROUND: Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in the health and well-being of people with BBS. Objectively-measured sleep and physical activity patterns in people with BBS are not well known. We evaluated objectively-measured sleep and physical activity patterns in the largest cohort to date of people with BBS. RESULTS: Short sleep duration, assessed using wrist-worn accelerometers, was common in both children and adults with BBS. Only 7 (10%) of adults and 6 (8%) of children met age-specific sleep duration recommendations. Most adults 64 (90%) achieved recommended sleep efficiency. The majority of children 26 (67%) age 6-12 years achieved recommended sleep efficiency, but among children age 13-18, only 18 (47%). In both adults and children, sleep duration was significantly negatively correlated with duration of prolonged sedentary time. In children age 6-12 sleep duration was also significantly related to total activity score, children with lower sleep duration had lower total activity scores. CONCLUSIONS: Insufficient sleep duration is very common in people with BBS. Prolonged sedentary time and short sleep duration are both potentially important health-related behaviors to target for intervention in people with BBS.
Assuntos
Síndrome de Bardet-Biedl , Adolescente , Adulto , Criança , Estudos de Coortes , Exercício Físico , Humanos , Obesidade , SonoRESUMO
OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent missense SCN1A mutation, p.Thr226Met. The remaining child had the missense mutation p.Pro1345Ser. The mutation arose de novo in 8 of 9; for the remaining case, the mother was negative and the father was unavailable. CONCLUSIONS: Here, we present a phenotype-genotype correlation for SCN1A. We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met.
Assuntos
Deficiências do Desenvolvimento/genética , Epilepsia/genética , Hipercinese/genética , Mutação de Sentido Incorreto , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Idade de Início , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/fisiopatologia , Epilepsias Mioclônicas/genética , Epilepsias Mioclônicas/fisiopatologia , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Feminino , Humanos , Hipercinese/diagnóstico por imagem , Hipercinese/fisiopatologia , Masculino , FenótipoRESUMO
A 70-year-old man was referred for evaluation of a 2-week history of numbness and progressive weakness in his lower and upper extremities and subsequently diagnosed with Guillain-Barré syndrome. The patient had been taking mycophenolate mofetil 500 mg twice daily and tacrolimus 6 mg daily for immunosuppression following a kidney transplant 2 years earlier. However, 5 weeks prior to presentation he had been diagnosed with pneumonia due to coccidioidomycosis and his tacrolimus dose was reduced to 1 mg daily to prevent a drug interaction with fluconazole, which was prescribed to treat the coccidioidomycosis infection. The authors surmise that the reduced tacrolimus dose, coupled with a relatively low maintenance dose of mycophenolate mofetil, left the patient less immunosuppressed and therefore able to mount an immune response to the coccidioidomycosis infection, resulting in Guillain-Barré syndrome. This is the first known report of an association between coccidioidomycosis infection and Guillain-Barré syndrome.
Assuntos
Coccidioidomicose/complicações , Síndrome de Guillain-Barré/complicações , Hospedeiro Imunocomprometido , Idoso , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/imunologia , Humanos , MasculinoRESUMO
OBJECTIVE: To determine whether availability of journals on MEDLINE as FUTON (full text on the Net) affects their impact factor. MATERIAL AND METHODS: A comprehensive search identified 324 cardiology, nephrology, and rheumatology/immunology journals on-line until May 2003. The status of these journals was ascertained in MEDLINE as having FUTON, abstracts only, and NAA (no abstract available). Impact factors for all available journals from the Institute for Scientific Information (ISI) were abstracted. RESULTS: Of the 324 Journals, 124 (38.3%) were FUTON, 138 (42.6%) had abstracts only, and 62 (19.1%) had NAA. The mean (+/-SEM) impact factor was 3.24 (+/-0.32), 1.64 (+/-0.30), and 0.14 (+/-0.45), respectively. Of the 324 current journals, 159 existed in both the pre- and the post-Internet era. An analysis of the change (ie, delta) in impact factor from the pre- to post-Internet era revealed a trend between journals with FUTON and abstracts only (P=.17, Wilcoxon rank sum test). Similar analyses of the delta of cardiology journals revealed a statistically significant difference between Journals with FUTON and abstracts only (P=.04, Wilcoxon rank sum test). CONCLUSION: FUTON bias is the tendency to peruse what is more readily available. This is the first study to show that on-line availability of medical literature may increase the impact factor and that such increase tends to be greater in FUTON journals. Failure to consider this bias may affect a journal's impact factor. Also, it could limit consideration of medical literature by ignoring relevant NAA articles and thereby influence medical education akin to publication or language bias.