Suehiro Yutaka

Incontinentia pigmenti (IP; OMIM# 308300) is a rare inherited disease caused by a mutation of IKBKG, which is also known as NEMO, located on Xq28. IP patients usually present with abnormalities of skin, eyes, nails and central nervous system. The neurological damege, which occur usually from neonatal through the early infantile period, leads to neulogical complication such as development retardation, motor paralysis and epilepsy. However, there has been little study done concerning the effect of therapy for the neural abnormalities. We have investigated the clinical findings in a female IP case with a novel mutation of IKBKG for six years due to disclosing the neurological prognosis and the immunological features. It is hoped that the present study will contribute to a better management of IP patients.

We performed this study to investigate whether serum cell-free DNA testing(liquid biopsy)of either methylated SEPT9 or methylated SST, which are possible biomarkers of HCC, in combination with AFP may improve clinical performance for the detection of HCC. Study subjects included 25 healthy controls, 15 patients with chronic liver disease without HCC, and 38 patients with HCC. Methylation level of serum cell-free SEPT9 and SST was measured by methylation-sensitive restriction enzymes followed by multiplex droplet digital polymerase chain reaction. According to receiver operating characteristic curve analysis to discriminate between non-HCC group(including control group and chronic liver disease without HCC group)and HCC group, area under the curve(AUC)was 0.73 by AFP and 0.73 by mSEPT9, whereas it was only 0.59 by mSST. Regarding combination tests, although negative predictive values were almost same between the AFP + mSEPT9 test and the AFP + mSST test(75.0% vs 72.2%),a positive predictive value of AFP + mSEPT9 test was higher than that of the AFP + mSST test(79.4% vs. 66.7%).In conclusions, methylated SEPT9 was a better companion marker of AFP for HCC screening than methylated SST.