No abstract

If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can be prevented. Wide screening of women to be or in their early pregnancy was considered a good approach to identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness of implementing such a screening program in Taiwan, due to the lower carrier rate found in our pilot study. To reliably estimate the prevalence of mutant FMR1 gene in Taiwan, we anonymously screened 10,046 newborn boys using bloodspot polymerase chain reaction (PCR). Among them, the sample from one boy, who was most likely had FXS, failed repeatedly in PCR amplification. The estimated prevalence of premutation (55-200 CGG repeats) and intermediate alleles (45-54 CGG repeats) was 1:1,674 (n = 6) and 1:143 (n = 70), respectively. All these estimates were constantly lower than that reported in Caucasian populations, with variable statistic significance. Furthermore, when comparing analyses of the distribution of alleles at the two most often investigated microsatellite loci, DXS548 and FRAXAC1, between 100 control and 28 unrelated fragile X chromosomes, we found no apparent founder haplotype prevalent among the fragile X patients. Because a few founder haplotypes were reportedly prevalent in two thirds of fragile X alleles in Caucasians and in Chinese from Central China, we thus suggested that lack of founder fragile X chromosomes might result in a relatively low prevalence of mutant FMR1 gene in a population, as observed in Taiwan.

The study indicated that 98-kDa mite paramyosin is an important allergen.

To evaluate the occurrence of sleep-disordered breathing and to clarify the characteristics of sleep among patients with Prader-Willi syndrome (PWS). Overnight continuous EEG-polysomnographic studies were performed in 30 patients with PWS (16 males and 14 females; mean age, 7.4 +/- 4.1 years; age range, 1-19 years) unselected for sleep disturbance. The baseline arterial oxygen saturation (SpO2) was 96.6 +/- 0.6%, with a nadir of 77.2 +/- 10.2%. The rapid eye movement (REM) latency was 67.4 +/- 30.0 min. The percent of total sleep time spent in sleep stages 1, 2, slow wave, and REM were 13.1 +/- 8.2%, 41.9 +/- 10.5%, 21.5 +/- 9.4%, and 21.1 +/- 5.7%, respectively. The respiratory disturbance index (RDI) was 5.8 +/- 3.7/hr and desaturation index (DI) was 8.1 +/- 7.3/hr, respectively. Age-adjusted BMI was associated with more severe hypoxemia during sleep (baseline SpO2, r = -0.53, P < 0.01; nadir SaO2, r = -0.65, P < 0.01; RDI, r = 0.37, P < 0.05; DI, r = 0.53, P < 0.01) and more sleep disruption (arousal index, r = 0.46, P < 0.01). There were no significant associations between gender or genotype pattern (deletion vs. uniparental disomy) and the results of polysomnography. Sleep hypoxemia and sleep disruption are more prevalent in patients with PWS than in normal children. Obesity in these patients is associated with more severe sleep-disordered breathing.

Newborn screening to measure the number of TREC copies successfully identifies newborns with T-cell lymphopenia, 22q11.2 microdeletion syndrome, and other high-risk conditions. Taken together, the incidence of T-cell lymphopenia in apparently healthy newborns is more than 1 in 11,821, and further attention to their immune functions is warranted.