Rett Syndrome: Retrospective And Prospective Study Of 28 Patients [síndrome De Rett: Estudo Retrospectivo E Prospectivo De 28 Pacientes]

From November 1982 to May 1999, 28 children with Rett syndrome were followed-up for a medium period of 6 years and 2 months. Regression of developmental milestones started at the age between 5 and 20 months. Nineteen cases of typical Rett syndrome had uneventful pre and perinatal periods, loss of previously acquired purposeful hand skills, mental and motor regression and developed hand stereotypies; sixteen had head growth deceleration and 12 gait apraxia. Nine patients were atypical cases, 2 formes frustres, 2 congenital, 3 with early seizure onset, 1 preserved speech and 1 male. Epilepsy was present in 21 patients, predominantly partial seizures and the drug of choise was carbamazepine (15 patients). In the initial evaluation most patients were distributed on Stages II and III and on follow-up on Stages III and IV. Three children died.592 B407410Wielawski, I., Rett syndrome: A medical odyssey (1986) Providence J Bull, , Dec 7Hagberg, B., Aicardi, J., Dias, K., A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases (1983) Ann Neurol, 14, pp. 471-479Diagnostic criteria for Rett syndrome (1988) Ann Neurol, 23, pp. 425-428Rosemberg, S., Arita, F., Campos, C., Síndrome de Rett:Análise dos primeiros 5 casos diagnosticados no Brasil (1987) Arq Neuropsiquiatr, 45, p. 143Bruck, I., Antoniuk, S.A., De Paola, D., Araki, T.Y., Flenik, L.T., Síndrome de Rett:Relato de 7 casos (1990) Arq Neuropsiquiatr, 48, pp. 489-492Holm, V., Rett's syndrome:A progressive developmental disability in girls (1985) Dev Behav Pediatr, 6, pp. 32-36Al-Mateen, M., Philipart, M., Shields, D., Rett syndrome: A commonly overlooked progressive encephalopathy in girls (1986) Am J Dis Child, 140, pp. 761-765Hagberg, B., Rett syndrome:Clinical peculiarities and biological mysteries (1995) Acta Paediatr, 84, pp. 971-976Kerr, A., Stephenson, J.B.P., Rett's syndrome in the west of Scotland (1985) BMJ, 291, pp. 579-582Hagberg, B., Rett syndrome: Swedish approach to analysis of prevalence and cause (1985) Brain Dev, 7, pp. 277-280Hagberg, B., Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls (1985) Acta Paediatr Scand, 74, pp. 405-408Iyama, C.M., (1993) In Advances in Pediatrics Rett Syndrome, pp. 217-245. , St Louis,MO: Mosby Year BookClarke, A., Rett syndrome (1996) J Med Genet, 33, pp. 693-699Jan, M.M.S., Dooley, J.M., Gordon, K.E., Male Rett syndrome variant: Aplication of diagnostic criteria (1999) Pediatr Neurol, 20, pp. 238-240Hagberg, B.A., Skjeldal, O.H., Rett variants: A suggested model for inclusion criteria (1994) Pediatr Neurol, 11, pp. 5-11Swaiman, K.F., Dyken, R.D., Rett syndrome (1999) Pediatric Neurology, Principles & Pratice. 3ed., 2, pp. 836-839. , Swaiman KF, Ashwal S, (eds) St Louis: Mosby IncBudden, S., Rett syndrome: Habilitation and managment reviewed (1997) Eur Child Adolesc Psychiatry, (1 SUPPL.), pp. 103-107Hagne, I., Witt-Engerstrom, I., Hagberg, B., EEg development in Rett syndrome: A study of 30 cases (1989) Eletroencephalogr Clin Neurophysiol, 72, pp. 1-6Naidu, S., Murphy, M., Moser, H., Rett syndrome: Natural history in 70 cases (1986) Am J Med Genet, 24, pp. 61-72Huang, T.J., Lubicky, J.P., Hammerberg, K.W., Scoliosis in Rett syndrome (1994) Orthop Rev, 23, pp. 931-937Zoghbi, H.Y., Percy, A.K., Schultz, R.J., Fill, C., Patterns of X chromosome inactivation in the Rett syndrome (1990) Brain Dev, 12, pp. 131-135Sirianni, N., Naidu, S., Pereira, J.L., Pillotto, R.F., Hoffman, E.P., Rett syndrome, confirmation of x-linked dominant inheritance, and localization of the gene to Xq28 (1998) Am J Hum Genet, 63, pp. 1552-1558Wan, M., Lee, S.S.J., Zhang, X., Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots (1999) Am J Hum Genet, 65, pp. 1520-1529Bruck, I., Philippart, M., Giraldi, D., Antoniuk, S., Difference in early development of presumed monozygotic twins with Rett syndrome (1991) Am J Med Genet, 39, pp. 415-417Tang, J., Qi, Y., Bao, X.H., Wu, X.R., Mutational analysis of mitochondrial DNA of children with Rett syndrome (1997) Pediatr Neurol, 17, pp. 327-330Reiss, A.L., Faruque, F., Naidu, S., Neuroanatomy of Rett syndrome: A volumetric imaging study (1993) Ann Neurol, 34, pp. 227-234Kitt, C.A., Wilcox, B.J., Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome (1995) Neuropediatrics, 26, pp. 114-118Armstrong, D., Dunn, J.K., Antalffy, B., Trivedi, R., Seletive dendritic alterations in the cortex of Rett syndrome (1995) J Neuropathol Exp Neurol, 54, pp. 195-20

Anti-inflammatory cytokine gene therapy decreases sensory and motor dysfunction in experimental Multiple Sclerosis: MOG-EAE behavioral and anatomical symptom treatment with cytokine gene therapy

Multiple Sclerosis (MS) is an autoimmune inflammatory disease that presents clinically with a range of symptoms including motor, sensory, and cognitive dysfunction as well as demyelination and lesion formation in brain and spinal cord. A variety of animal models of MS have been developed that share many of the pathological hallmarks of MS including motor deficits (ascending paralysis), demyelination and axonal damage of central nervous system (CNS) tissue. In recent years, neuropathic pain has been recognized as a prevalent symptom of MS in a majority of patients. To date, there have been very few investigations into sensory disturbances in animal models of MS. The current work contains the first assessment of hind paw mechanical allodynia (von Frey test) over the course of a relapsing-remitting myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis (MOG-EAE) rat model of MS and establishes the utility of this model in examining autoimmune induced sensory dysfunction. We demonstrate periods of both decreased responsiveness to touch that precedes the onset of hind limb paralysis, and increased responsiveness (allodynia) that occurs during the period of motor deficit amelioration traditionally referred to as symptom remission. Furthermore, we tested the ability of our recently characterized anti-inflammatory IL-10 gene therapy to treat the autoimmune inflammation induced behavioral symptoms and tissue histopathological changes. This therapy is shown here to reverse inflammation induced paralysis, to reduce disease associated reduction in sensitivity to touch, to prevent the onset of allodynia, to reverse disease associated loss of body weight, and to suppress CNS glial activation associated with disease progression in this model

Human papillomavirus status and cervical abnormalities in women from public and private health care in Rio de Janeiro State, Brazil Papilomavírus humano e anormalidades cervicais em mulheres do sistema de saúde privado e público no Estado do Rio de Janeiro, Brasil

This article reports the HPV status and cervical cytological abnormalities in patients attended at public and private gynecological services from Rio de Janeiro State. It also comments the performance of each HPV DNA tests used. A set of 454 women from private health clinics was tested by routine Capture Hybrid II HPV DNA assay. Among these, 58.4% presented HPV and nearly 90% of them were infected by high risk HPV types. However, this group presented few premalignant cervical lesions and no invasive cervical cancer was registered. We also studied 220 women from low income class attended at public health system. They were HPV tested by polymerase chain reaction using My09/11 primers followed by HPV typing with E6 specific primers. The overall HPV prevalence was 77.3%. They also showed a high percentage of high squamous intraepithelial lesion-HSIL (26.3%), and invasive cervical carcinoma (16.3%). HPV infection was found in 93.1% and 94.4% of them, respectively. The mean ages in both groups were 31.5 and 38 years, respectively. In series 1, HPV prevalence declined with age, data consistent with viral transient infection. In series 2, HPV prevalence did not decline, independent of age interval, supporting not only the idea of viral persistence into this group, but also regional epidemiological variations in the same geographic area. Significant cytological differences were seen between both groups. Normal and benign cases were the most prevalent cytological findings in series 1 while pre-malignant lesions were the most common diagnosis in the series 2. HPV prevalence in normal cases were statistically higher than those from series 1 (p < 0.001), indicating a higher exposure to HPV infection. Women from both samples were referred for previous abnormal cytology. However, socio-demographic evidence shows that women from series 1 have access to treatment more easily and faster than women from series 2 before the development of pre-malignant lesions. These data provides baseline support for the role of social inequalities linked to high risk HPV infection leading to cervical cancer. Broadly screening programs and the development of safe and effective vaccines against HPV would diminish the toll of this disease that affect mainly poor women.<br>Este artigo analisa a infecção por HPV e anormalidades citológicas cervicais encontradas em pacientes atendidas em serviços ginecológicos dos sistemas de saúde público e privado do estado do Rio de Janeiro. O trabalho também avalia os testes utilizados para detecção de DNA do HPV em cada população estudada. Um grupo de 454 mulheres oriundas de serviços da rede privada de saúde foi testado por Captura do Híbrido II. Destas, 58,4% apresentaram infecção por HPV e cerca de 90% delas estavam infectadas por HPV de alto risco. Este grupo, entretanto, apresentava poucos casos de lesões cervicais pré-malígnas e nenhum caso de câncer. Estudamos, também, 220 mulheres de baixo nível econômico atendidas no serviço de saúde pública que foram testadas para HPV pela reação da polimerase em cadeia utilizando-se os oligonucleotídeos My09/My11. A identificação dos tipos foi efetuada por amplificação com oligonucleotídeos específicos para a região E6 do genoma viral. A prevalência de HPV nesta população foi de 77.3%, observando-se uma alta porcentagem de casos de neoplasias intraepiteliais cervicais de alto grau (26,3%) e de carcinoma cervical invasivo (16,3%). A infecção por HPV foi achada em, respectivamente, 93,1% e 94,4% destes casos. A média de idade em ambos os grupos era de 31,5 e 38 anos, respectivamente. Na série 1, a prevalência da infecção por HPV decresce com a idade, enquanto na série 2 ela não desaparece, dando suporte não só à idéia de persistência viral neste grupo, mas também a variações epidemiológicas na mesma área geográfica. Diferenças significativas foram vistas nos dois grupos. Casos normais e benignos foram incidentes na série 1, enquanto as lesões malígnas predominaram na série 2. Ao contrário, casos normais infectados por HPV eram prevalentes na série 2 (p < 0.001), indicando maior exposição ao vírus. Embora as mulheres de ambos os grupos tenham sido incluídas no estudo por apresentarem citologia anormal, evidências sócio-demográficas demonstram que mulheres da série 1 tem acesso mais fácil e rápido ao tratamento do que as mulheres da série 2 antes que as lesões pré-malígnas se desenvolvam. Estes resultados fornecem dados sobre o papel das desigualdades sociais associadas à infecção por HPV de alto risco na progressão do câncer cervical. Programas de prevenção abrangentes e o desenvolvimento de vacinas eficazes e seguras contra o HPV poderiam reduzir o tributo desta doença que afeta principalmente mulheres pobres