The aim of this study was to test the effectiveness of invitation to cervical cancer screening through a very low-cost strategy based on automated and customized text messages, phone calls and reminders. A randomized (1:1) controlled trial was conducted among 13 Portuguese primary care units, recruiting women aged 25 to 49 years, eligible for cervical cancer screening, with an available mobile phone number. In ...
Alport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, wi...
Retrospective analysis of six cases of caudal regression syndrome, classified in accordance with vertebral envolvement. The degree of vertebral agenesis, morphology and topography of the conus medularis, neurologic implications (motor, sensitive and autonomous) and associated malformations, of particular importance in some situations of little significant vertebral agenesis are analyzed. Associations with event...