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Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration
Publication . Pars, Selin; Cristo, Fernando; Inácio, José M; Rosas, Graça; Carreira, Isabel Marques; Melo, Joana Barbosa; Mendes, Patrícia; Martins, Duarte Saraiva; de Almeida, Luís Pereira; Maio, José; Anjos, Rui; Belo, José A; A. Belo, José; NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM); Centro de Estudos de Doenças Crónicas (CEDOC); Springer Verlag
A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vitro differentiation potential, karyotype stability, and the transgene-free status of generated iPSC line were analyzed and confirmed. This cell line can be exploited as a control iPSC line to better understand the mechanisms involved in DAND5-associated cardiac disease.
Subclinical Enteric Parasitic Infections and Growth Faltering in Infants in São Tomé, Africa
Publication . Garzón, Marisol; Pereira-da-Silva, Luís; Pereira-da-Silva, Luís; Seixas, Jorge; Papoila, Ana Luísa; Papoila, A.L.; Alves, Marta; NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM); Instituto de Higiene e Medicina Tropical (IHMT); Global Health and Tropical Medicine (GHTM); Molecular Diversity Preservation International (MDPI)
The associations between enteric pathogenic parasites and growth in infants in São Tomé were explored using a refined anthropometric approach to recognize early growth faltering. A birth cohort study was conducted with follow-up to 24 months of age. Microscopic examination for protozoa and soil-transmitted helminths was performed. Anthropometric assessments included: z-scores for weight-for-length (WLZ), length-for-age (LAZ), weight (WAVZ) and length velocities (LAVZ), length-for-age difference (LAD), and wasting and stunting risk (≤-1 SD). Generalized additive mixed effects regression models were used to explore the associations between anthropometric parameters and enteric parasitic infections and cofactors. A total of 475 infants were enrolled, and 282 completed the study. The great majority of infants were asymptomatic. Giardia lamblia was detected in 35.1% of infants in at least one stool sample, helminths in 30.4%, and Cryptosporidium spp. in 14.7%. Giardia lamblia and helminth infections were significantly associated with mean decreases of 0.10 in LAZ and 0.32 in LAD, and of 0.16 in LAZ and 0.48 in LAD, respectively. Cryptosporidium spp. infection was significantly associated with a mean decrease of 0.43 in WAVZ and 0.55 in LAVZ. The underestimated association between subclinical parasitic enteric infections and mild growth faltering in infants should be addressed in public health policies.
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Fundação para a Ciência e a Tecnologia
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SFRH
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SFRH/BD/81431/2011