PubMed · 1532221
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L L Robison. 1992. Down syndrome and leukemia.. https://pubmed.ncbi.nlm.nih.gov/1532221/
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Down syndrome (DS) results from trisomy for human chromosome 21 and is the most frequent genetic cause of intellectual disability. No effective treatments currently exist that improve neurodevelopment and cognition. Atypical brain development in individuals with DS is apparent before birth, which suggests that the optimal time to begin administration of therapies is prenatally. Human neural progenitor cell (NPC) cultures provide a tractable in vitro model system to examine the effects of trisomy 21 (T21) on neurodevelopment and to measure the effects of pharmacological interventions. Here, we report the results of preclinical studies evaluating 24 candidate therapies. RNA sequencing analyses found that euploid and T21 NPCs showed different transcriptomic responses to five candidate pharmacotherapies. The Rho-associated coiled-coil kinase inhibitor fasudil increased proliferation of T21 NPCs, reduced expression of inflammatory pathway genes in T21 NPCs, and reduced markers of inflammation in LPS-stimulated microglial model systems. These results demonstrate that fasudil can alter multiple T21-associated abnormalities in a beneficial manner, suggesting that fasudil warrants further study as a candidate prenatal pharmacotherapy for DS.
PURPOSE: To characterize pelvic morphometric differences in patients with and those without Down syndrome by using computed tomography (CT) and to determine useful indexes for ultrasonographic (US) evaluation. MATERIALS AND METHODS: Pelvic CT scans in seven patients with Down syndrome and in 27 patients without Down syndrome were reviewed. Iliac angle, iliac length, sacroiliac joint angle, and anterior iliac wing separation were measured at superior, middle, and inferior transverse sacral levels. The effects of chromosomal status and transverse level were evaluated statistically. RESULTS: Significant differences were found for mean iliac angle (P < .007) and length (P < .005) between patients without Down syndrome (angle, 75 degrees; length, 8.4 cm) and those with Down syndrome (angle, 82 degrees; length, 7.5 cm). Depending on the level of measurement, variations in iliac angle between patients without and those with Down syndrome were as much as 13 degrees and 15 degrees, respectively, and variations in length were as much as 1.6 cm and 0.9 cm, respectively. The greatest differences were at the middle sacral level. Sacroiliac joint angle and the anterior iliac wing separation were not different between groups. CONCLUSION: Patients with Down syndrome had a larger mean iliac angle and a shorter mean iliac length. The most pronounced differences were at the middle sacral level, which suggests that this may be the optimal level for measuring these parameters at prenatal US.
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