• Journal of Genetic Medicine
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• v.14 no.1
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• pp.34-37
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• 2017

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.

• Sleep Medicine and Psychophysiology
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• v.5 no.1
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• pp.103-110
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• 1998

Objectives : High co-morbidity of periodic limb movements during sleep(PLMS) and obstructive sleep apnea syndrome(OSAS) is well known and their incidences tend to increase in the elderly. Previous studies have inconsistently rep0l1ed increase or no change of periodic limb movement index(PLMI) by nasal continuous positive airway pressure(CPAP) in OSAS without analyzing possible variables affecting PLMI. We attempted to examine PLMI change evoked during CPAP titration and also factors affecting it in OSAS. Methods : Twenty-nine OSAS patients(M:F=26:3, mean age: $51.6{\pm}10.6\;yrs$) without other sleep disorders except for PLMS were selected, based on the nocturnal (baseline) polysomnograhy. Another night of noctumal polysomnography was performed for CPAP pressure titration. We compared between those two nights PLMI, mean and lowest $SaO_2$, and sleep variables. We also calculated PLMI differences between baseline and CPAP nights, named as delta PLMI (value of CPAP night PLMI minus value of baseline night PLMI). Correlations were calculated between delta PLMI and factors such as age, body mass index, applied CPAP pressure, baseline night values of respiratory disturbance index, mean and lowest $SaO_2$, and sleep parameter differences between baseline and CPAP nights. Results : Decrease of RDI(p<.01) and increase in mean and lowest $SaO_2$ (p<.05, p<.01) were observed during CPAP night. No sleep parameters showed significant change except for the decrease of total stage 1 sleep%(p<.01) during CPAP night. Ten out of 29 patients showed PLMI increase, while the other 19 patients showed either no change(n=14) or even PLMI decrease(n=5) during CPAP night. The 10 patients showing PLMI increase during CPAP night showed a significant positive correlation between delta PLMI and baseline night RDI(p<.05), which meant that PLMI increase was found to be more prominent in higher RDI patients than in lower RDI ones. There were no significant correlations between delta PLMI and other factors in the other 19 patients. Conclusions : We suggest that during the baseline night PLMS would have been underscored and/or masked due to the overlapping of PLMS and apneas/hypopneas or the arousals induced by apneas/hypopneas. Despite its still unknown mechanism, the CPAP application may unmask PLMS and increase PLMI in a subgroup of OSAS patients. It needs to be evaluated further whether the chronic CPAP use sustains the above finding.