PubMed · 13942241
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J J PEARSE, M REISS, R T SUWALSKI. 1963. Thyroid function in patients with mongolism.. https://doi.org/10.1210/jcem-23-3-311
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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.
OBJECTIVES: To evaluate intra- and inter-observer variations of nuchal translucency (NT) measurements and study the duration of measurements. SUBJECTS: One hundred and forty-seven singleton pregnant women with 10-14 weeks of gestation who had attended antenatal clinic during January 1st, 2000-August 31st, 2001 were included. METHODS: Crown-rump length and NT were measured three times for each woman. Then, another examiner who was unaware of the previous results did the other three measurements. The duration of measurements was recorded. Intra-observer and inter-observer variations were analyzed by repeated ANOVA and paired t test, respectively. The correlation of NT measurements within each observer and between paired observers was evaluated by intraclass correlation coefficients (ICC). Kappa statistic was calculated for agreement. RESULTS: Intra-observer variation of all 10 examiners at three institutes was varied from 0.20 +/- 0.27 to 0.33 +/- 0.41 mm. Inter-observer variation at Chiang Mai University was 0.40 +/- 0.37 mm which was the highest value compared with those at Prince of Songkla and Khon Kaen University (p < 0.05). The mean duration of measurements was in range of 8-12 min. The intra-observer repeatability of the first two measurements showed ICCs varying from 0.61 to 0.94. The inter-observer repeatability of paired examiners showed a variation in ICC from 0.28-0.90. The kappa value expressing the intra- and inter-observer repeatability as being >95th or < or = 95th percentile was 0.73 and 0.72, respectively. CONCLUSIONS: NT measurement was reproducible for small variation and good agreement. The duration of measurements was acceptable.
OBJECTIVE: To investigate the quality of nuchal translucency measurements that were done as part of a randomised study into screening for Down's syndrome. DESIGN: Exploratory. METHOD: In the period May 2001-April 2003, 396 nuchal translucency measurements were done by 55 sonographers in 13 different echography centres. The sonographers were questioned in writing regarding their training and experience, the procedure and technique used, and the quality assurance. A filled-in questionnaire was received from 42 sono0 images at random from the 2710measurements (70%o) that had been made in 6 centres. These were evaluatedby 3 experts on the basis of the 5 criteria that are used by the Fetal Medicine Foundation (FMF). Each measurement was given 2 points for every criterion that was fulfilled, after which the average of the 3 scores was calculated. RESULTS: Of the 42 respondents, 88% had taken a nuchal translucency measurement course and 45% were certified by the FMF. Calipers were placed incorrectly by 50% of the respondents; 62% of the respondents mentioned the absence of an intern quality check. Concerning the quality-assessment of the nuchal translucency measurements, the assessors unanimously considered i3%o of the 30 images to be suitable for prenatal screen4ngand 43% to be unsuitable; their opinions as to the remaining images differed. The average quality mark was 4.7. CONCLUSION: Many nuchal translucency measurements did not fulfil the quality criteria that are imposed in order to make the measurement reliable as a screening test. There was a lack of quality securance in the echography centres.