Background:
Bladder instillation of hyaluronic acid (HA) is an acceptable treatment for bladder pain syndrome/interstitial cystitis (BPS/IC). The treatment is limited by a high proportion of non-responders (~30%–40%). Here, we aimed to evaluate predisposing factors associated with treatment outcomes.
Methods:
This is a prospective multicenter study. We enrolled a total of 137 (out of 140) women with refractory IC. They all underwent a standard protocol of 6-month intravesical HA therapy (initial 4 weeks, once weekly, followed by once monthly). To assess the outcomes, we used the pain Visual Analog Scale (Pain-VAS), Interstitial Cystitis Symptom and Problem Index (ICSI & ICPI), and a scaled Global Response Assessment (GRA).
Results:
The age of patients was 47.6 ± 27.5 (range 24–77) years. We found statistically significant improvement (p < 0.001) in the Pain-VAS and the ICSI & ICPI scores both after the initial 4-weekly instillations and at the end of 6-month treatment. Those who reported moderate/marked improvement on GRA at the 2 follow-up visits were considered responders: 39.4% (n = 54) at the first follow-up, and 59.9% (n = 82) at the second follow-up. No remarkable side effect was noted. After statistical analyses, treatment outcomes on GRA were positively associated with baseline functional bladder capacity and with Pain-VAS scores. The initial treatment responses optimally (p < 0.001) predicted final treatment outcomes (McNemar).
Conclusion:
Intravesical HA therapy is safe and effective for most (~60%) of our patients with refractory IC. Functional bladder capacity and Pain-VAS scores before treatment, and the early treatment responses are helpful predictors of treatment outcomes.
BackgroundApproximately 30 sex-chromosome discordant chimera cases have been reported to date, of which only four cases carried trisomy 21. Here, we present an additional case, an aborted fetus with a karyotype of 47,XX, +21/46,XY.Case presentationAutopsy demonstrated that this fetus was normally developed and had male genitalia. Major characteristics of Down syndrome were not observed except an enlarged gap between the first and second toes. Karyotyping of tissues cultured from the fetus revealed the same chimeric chromosomal composition detected in the amniotic fluid but with a different ratio of [47,XX,+21] to [46,XY]. Further short tandem repeat analysis indicated a double paternal contribution and single maternal contribution to the fetus, with the additional chromosome 21 in the [47,XX,+21] cell lineage originating from the paternal side.ConclusionWe thus propose that this chimeric fetus was formed via the dispermic fertilization of a parthenogenetic ovum with one (Y) sperm and one (X,+21) sperm.
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