Publications by authors named "Alice Vasconcelos"
Article Synopsis
- Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is a rare disorder linked to the AP1B1 gene, with only nine cases reported so far, highlighting the need for more clinical observations.
- The report presents a case of a 14-year-old boy with various health issues, including feeding difficulties, skin problems (ichthyosis), growth delays, and profound hearing loss, and genetic testing confirmed a deletion in the AP1B1 gene.
- Comparison of this case with existing literature shows consistent major features among patients, suggesting the necessity of additional genetic evaluations to better understand the disorder's spectrum.
Article Synopsis
- The study examined lower urinary tract symptoms (LUTS) and various urinary markers related to inflammation and oxidative stress in older men suffering from chronic pelvic ischemia due to aortoiliac disease.
- Thirteen men over 60 with documented arterial occlusion participated, alongside twelve age-matched controls, to compare urinary symptoms and marker levels while excluding those with other significant bladder or prostate issues.
- Results showed that men with chronic pelvic ischemia had higher LUTS scores and increased neuroinflammatory marker urine levels (nerve growth factor), suggesting ischemia worsens bladder function and aligns with findings from animal studies.