Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport

Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The molecular mechanisms underlying its neuronal phenotype are largely unexplored. In this study, we reported two sisters, who harbored biallelic variants in TBCK and met diagnostic criteria for IHPRF3. We provided evidence that TBCK may play an important role in the early secretory pathway in neuroprogenitor cells (iNPC) differentiated from induced pluripotent stem cells (iPSC). Lack of functional TBCK protein in iNPC is associated with impaired endoplasmic reticulum-to-Golgi vesicle transport and autophagosome biogenesis, as well as altered cell cycle progression and severe impairment in the capacity of migration. Alteration in these processes, which are crucial for neurogenesis, neuronal migration, and cytoarchitecture organization, may represent an important causative mechanism of both neurodevelopmental and neurodegenerative phenotypes observed in IHPRF3. Whether reduced mechanistic target of rapamycin (mTOR) signaling is secondary to impaired TBCK function over other secretory transport regulators still needs further investigation.</jats:p

Gastroenteric virus detection in fecal samples from women in Goiânia, State of Goiás, Brazil Detecção de vírus gastroentéricos em amostras fecais de mulheres em Goiânia, Estado de Goiás, Brasil

INTRODUCTION: This was a prospective study that included women seen in the obstetrics and gynecology sector of Hospital das Clínicas, Federal University of Goiás, in Goiânia, State of Goiás, with the aim of detecting rotaviruses, adenoviruses, caliciviruses and astroviruses. Eighty-four women participated in the study and from these, 314 fecal samples were collected. Out of all of the women, 29 were seropositive for HIV and 55 were seronegative, and 45 and 39 were pregnant and non-pregnant, respectively. METHODS: Fecal samples were collected from each woman once every two months over the period from July 2006 to June 2007, and they were screened for rotaviruses by means of polyacrylamide gel electrophoresis and immunoenzymatic assays, for caliciviruses and astroviruses by means of RT-PCR and for adenovirus by means of immunoenzymatic assays. The astroviruses were genotyped using nested PCR. RESULTS: Among the 84 patients, 19 (22.6%) were positive for either calicivirus (14/19) or astrovirus (6/19), while one women was positive for both viruses in fecal samples collected on different occasions. Most of the positive samples were collected during the months of July and August (astrovirus) and September and October (calicivirus). None of the samples analyzed was positive for rotavirus or adenovirus. Gastroenteric viruses were detected in 13/19 (68.4%) of the pregnant women, whether HIV-seropositive or not. CONCLUSIONS: The results from the present study showed that neither pregnancy nor HIV-seropositive status among the women increased the risk of infection by any of the gastroenteric viruses studied. This study presents data on gastroenteric virus detection among pregnant and/or HIV-positive women.<br>INTRODUÇÃO: Este foi um estudo prospectivo que incluiu mulheres atendidas no setor de obstetrícia e ginecologia do Hospital das Clínicas da Universidade Federal de Goiás, em Goiânia, Estado de Goiás com o objetivo de detectar rotavírus, adenovírus, calicivírus e astrovírus. Oitenta e quatro mulheres participaram no estudo e destas, 314 amostras fecais foram coletadas. Do total de mulheres, 29 eram soropositivas para HIV, 55 soronegativas, 45 e 39 estavam grávidas e não-grávidas, respectivamente. MÉTODOS: Amostras fecais foram coletadas de cada mulher uma vez a cada dois meses pelo período de Julho-2006 a Junho-2007, foram triadas para rotavírus pela metodologia de eletroforese em gel de poliacrilamida (EGPA) e através de ensaio imunoenzimático (EIE), para calicivírus e astrovírus por RT-PCR e por EIE para adenovírus. Os astrovírus foram genotipados por Nested-PCR. RESULTADOS: De 84 pacientes, 19 (22,6%) foram positivas para calicivírus (14/19) ou astrovírus (6/19), sendo que uma mulher foi positiva para ambos os vírus em amostras fecais coletadas em diferentes ocasiões. A maioria das amostras positivas foi coletada no período de Julho a Agosto (astrovírus) e de Setembro a Outubro (calicivírus). Nenhuma das amostras analisadas foi positiva para rotavírus ou adenovírus. Os vírus gastroentéricos foram detectados em 13/19 (68,4%) mulheres grávidas, as quais eram HIV-soropositivas ou não. CONCLUSÕES: Os resultados do presente estudo mostram que nem o estado gravídico das mulheres nem a soropositividade para HIV aumentaram o risco para a infecção por nenhum dos vírus gastroentéricos estudados. Este estudo apresenta dados sobre a detecção de vírus gastroentéricos entre mulheres grávidas e/ou HIV-positivas

Cobertura vacinal contra hepatite B entre usuários de drogas ilícitas Cobertura vacinal contra hepatite B entre usuários de drogas ilícitas Hepatitis B vaccination use and risk behaviors among users of illicit drugs

OBJETIVO: Identificar a cobertura vacinal contra a hepatite B e os comportamentos de risco entre usuários de drogas ilícidas (UDI) em Dourados-MS. MÉTODOS: Trata-se de uma pesquisa de campo, descritiva de corte transversal realizada mediante aplicação de questionário em 49 usuários atendidos pelos centros de recuperação e programas de apoio desse Município. RESULTADOS: Identificou-se predomínio de homens jovens que utilizavam drogas não injetáveis. A história de prisão, e de hepatite na família, tatuagens, múltiplos parceiros sexuais e realização de todas as formas de relação sexual, foram os fatores de risco mais frequentes. CONCLUSÃO: Estes fatores combinados com a baixa cobertura vacinal e a falta de término do esquema confirmam a vulnerabilidade do grupo em adquirir a hepatite B.<br>OBJETIVO: Identificar la cobertura de vacunas contra la hepatitis B y los comportamientos de riesgo entre usuarios de drogas ilícidas (UDI) en Dourados-MS. MÉTODOS: Se trata de una investigación de campo, descriptiva de corte transversal realizada mediante la aplicación de un cuestionario a 49 usuarios atendidos por los centros de recuperación y programas de apoyo de ese Municipio. RESULTADOS: Se identificó predominio de hombres jóvenes que utilizaban drogas no inyectables. La historia de prisión, y de hepatitis en la familia, tatuajes, parejas sexuales múltiples y realización de todas las formas de relación sexual, fueron los factores de riesgo más frecuentes. CONCLUSIÓN: Estos factores sumados a la baja cobertura de vacunas y la falta de término del esquema confirman la vulnerabilidad del grupo para adquirir la hepatitis B.<br>OBJECTIVE: To identify hepatitis B vaccine use and risk behaviors among users of illicit drugs (IDU) in Dourados (Mato Grosso do Sul, Brasil). METHODS: A descriptive cross-sectional field study was conducted by questionnaire with 49 users of illicit drugs who were receiving assistance through rehabilitation centers and support programs within the city. RESULTS: A predominance of young men using non-injectable drugs was identified. A history of imprisonment, hepatitis, tattooing, multiple sexual partners and participation in all forms of sexual intercourse were the most common risk factors. CONCLUSION: These factors, combined with low vaccination rates and lack of completion of the recovery and support programs, confirm the vulnerability of users of IDUs for acquiring hepatitis B

Prevalence of serological markers of hepatitis B virus in pregnant women from Paraná State, Brazil

The prevalence of hepatitis B virus (HBV) in Brazil increases from South to North but moderate to elevated prevalence has been detected in the Southwest of Paraná State. The prevalence of serological markers of HBV was evaluated in 3188 pregnant women from different counties in Paraná State and relevant epidemiological features were described. The prevalence of HBV markers in pregnant women for the state as a whole was 18.5% (95% CI = 17.2-19.9), ranging from 7.2% in Curitiba to 38.5% in Francisco Beltrão. The endemicity of HBV marker prevalence in pregnant women was intermediate in Cascavel, Foz do Iguaçu, and Francisco Beltrão, and low in Curitiba, Londrina, Maringá, and Paranaguá. Multiple logistic regression showed that HBV marker prevalence increased with age, was higher among black women, among women of Italian and German descent, and among women who had family members in neighboring Rio Grande do Sul State. Univariate analysis showed that HBV marker prevalence was also higher among women with no education or only primary education, with a lower family income and whose families originated from the South Region of Brazil. Pregnant women not having positive HBV markers (anti-HBc, HBsAg or anti-HBs detected by ELISA) corresponded to 73.7% of the population studied, implying that HBV vaccination needs to be reinforced in Paraná State. The highest prevalence was found in three counties that received the largest number of families from Santa Catarina and Rio Grande do Sul, where most immigrants were of German or Italian ascendance. This finding probably indicates that immigrants that came to this area brought HBV infection to Southwestern Paraná State