RESUMO
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice. METHODS: The genes known to cause CMT were sequenced in 1607 patients with CMT (425 patients attending an inherited neuropathy clinic and 1182 patients whose DNA was sent to the authors for genetic testing) to determine the proportion of different subtypes in a UK population. RESULTS: A molecular diagnosis was achieved in 62.6% of patients with CMT attending the inherited neuropathy clinic; in 80.4% of patients with CMT1 (demyelinating CMT) and in 25.2% of those with CMT2 (axonal CMT). Mutations or rearrangements in PMP22, GJB1, MPZ and MFN2 accounted for over 90% of the molecular diagnoses while mutations in all other genes tested were rare. CONCLUSION: Four commonly available genes account for over 90% of all CMT molecular diagnoses; a diagnostic algorithm is proposed based on these results for use in clinical practice. Any patient with CMT without a mutation in these four genes or with an unusual phenotype should be considered for referral for an expert opinion to maximise the chance of reaching a molecular diagnosis.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Testes Genéticos/normas , Doença de Charcot-Marie-Tooth/classificação , Doença de Charcot-Marie-Tooth/diagnóstico , Estudos de Coortes , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Testes Genéticos/métodos , Humanos , Masculino , Mutação/genética , Guias de Prática Clínica como AssuntoRESUMO
Presentation made at the Aviation Health Conference, London, November 2006. In modern aircraft, the air in the cabin is provided by the environmental control system (ECS) and consists of approximately 50% outside air (engine 'bleed air') mixed with approximately 50% filtered, recirculated air. This paper describes how modern aircraft cabin air filters are effective at removing airborne particulate contamination (such as bacteria and viruses) from the recirculated air system. It also describes one of the technological solutions that is currently available to treat any odours or volatile organic compounds (VOCs) that may be present in the aircraft ECS.
Assuntos
Poluição do Ar em Ambientes Fechados/prevenção & controle , Aeronaves , Controle de Doenças Transmissíveis/métodos , Ventilação/instrumentação , Microbiologia do Ar , Filtração/instrumentação , Humanos , ViagemRESUMO
X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inactivation pattern in females with CMT1X and correlate this with phenotype using the CMT examination score to determine whether the X inactivation pattern accounted for the variable phenotype in females with CMT1X. We determined X inactivation pattern in 67 females with CMT1X and 24 controls using the androgen receptor assay. We were able to determine which X chromosome carried the GJB1 mutation in 30 females. There was no difference in X inactivation pattern between patients and controls. In addition, there was no correlation between X inactivation pattern in blood and phenotype. A possible explanation for these findings is that the X inactivation pattern in Schwann cells rather than in blood may explain the variable phenotype in females with CMT1X.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Cromossomos Humanos X , Doenças Genéticas Ligadas ao Cromossomo X/genética , Inativação do Cromossomo X/genética , Adolescente , Adulto , Idoso , Saúde da Família , Feminino , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Adulto JovemRESUMO
AIM: To report the reliability, accuracy and compliance of a brief fall risk screening tool in subacute and residential aged care. METHOD: A 9-item tool, developed by expert and literature review, was administered to 291 persons admitted to subacute and residential aged care at Peninsula Health (PH) Victoria, Australia. Items were analysed for their ability to predict falls and the four strongest incorporated into a screening tool. Reliability was assessed on six nurses. RESULTS: Most predictive items were recent falls (0.82), psychological status (0.55), medications (0.46) and cognition (0.41) chi(2) (4, n= 291) = 89.89, P < 0.0001. The final 4-item tool (PH-FRAT) provides 80% accuracy (sensitivity(ER) 70.2%, specificity(ER) 68.8%) and high reliability (ICC = 0.79). The PH-FRAT is now used in 50 local subacute and residential facilities. CONCLUSION: The 4-item PH-FRAT is a popular, moderately predictive, reliable and brief method of screening fall risk in subacute and residential aged care.