PubMed · 13433519
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I GAMSTORP. 1957-03-08. Mongolism.. https://pubmed.ncbi.nlm.nih.gov/13433519/
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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.
We report the first case of a girl born to a diabetic mother who was found to have Down syndrome and prune-belly anomalies (bilateral gross hydronephrosis, megaureter, and megacystis with abdominal muscle deficiency). The girl also had an atrioventricular septal defect. Diagnoses were confirmed with a cytogenetic study and micturating cystourethrography. She died at 29 days of age with a sudden collapse, most likely due to sepsis.
Urinary bladder perforation due to bladder catheterization in neonates is a rare iatrogenic complication. It has been reported secondary to various causes and a variety of surgical settings in neonates. A case of urinary bladder perforation due to catheterization in a premature baby with Down syndrome, who presented with progressive renal failure and mild-to-moderate ascites, is reported. Urinary bladder perforation should be considered in a case of neonatal ascites with renal failure, which is unexplainable by other causes. We recommend that bladder catheterization in a baby with Down syndrome, whose urinary bladder may be at an increased risk for perforation as part of their generalized hypotonia, should be performed cautiously. To our knowledge, this is the first case report of bladder perforation due to urinary bladder catheterization in a case of Down syndrome.