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Near‐Infrared organic light emitting diode (NIR OLED) that can be potentially applied to flexible devices and bio/medical applications based on NIR emitter and optical effects are proposed. The proposed NIR OLEDs can freely control the peak wavelength in the NIR region of 720 ~ 760 nm and offer the possibility of finding the optimal point of best photo‐therapeutic effects in the NIR region. [ABSTRACT FROM AUTHOR]

Background: Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11 (cblX‐like), and ZNF143 (cblX‐like), or a hemizygous variant in HCFC1 (cblX). Prenatal diagnosis of combined methylmalonic acidemia with homocystinuria is crucial for high‐risk couples since the disorder can be life‐threatening for offspring. We would like to describe two infant deaths both of which are likely attributable to cblC despite not having a genetic confirmation, and subsequent pregnancy and prenatal genetic testing. Methods: Parental clinical exome sequencing and targeted Sanger sequencing of MMACHC gene in amniotic fluid was performed to check the carrier status of the fetus. Results: Parental clinical exome sequencing revealed a heterozygous pathogenic variant [NM_015506.2:c.217C>T (p.Arg73*)] in the MMACHC gene of the mother and [NM_015506.2:c.609G>A (p.Trp203*)] in the MMACHC gene of the father. Targeted Sanger sequencing of MMACHC gene in amniotic fluid revealed that the fetus carried only one nonsense variant [NM_015506.2:c.609G>A (p.Trp203*)], which was inherited from the father. The mother delivered a healthy baby and the neonate did not show any symptoms or signs of combined methylmalonic acidemia and homocystinuria after birth. Conclusion: We present a case of prenatal diagnosis with parental exome sequencing, which successfully diagnosed the carrier status of the fetus and parents in a combined methylmalonic acidemia and homocystinuria family. [ABSTRACT FROM AUTHOR]

The use of multigene panel testing for patients with a predisposition to breast/ovarian cancer is increasing as the identification of variants is useful for diagnosis and disease management. We identified pathogenic and likely pathogenic (P/LP) variants of high‐and moderate‐risk genes using a 23‐gene germline cancer panel in 518 patients with hereditary breast and ovarian cancers (HBOC). The frequency of P/LP variants was 12.4% (64/518) for high‐ and moderate‐penetrant genes, namely, BRCA2 (5.6%), BRCA1 (3.3%), CHEK2 (1.2%), MUTYH (0.8%), PALB2 (0.8%), MLH1 (0.4%), ATM (0.4%), BRIP1 (0.4%), TP53 (0.2%), and PMS2 (0.2%). Five patients possessed two P/LP variants in BRCA1/2 and other genes. We also compared the results from in silico splicing predictive tools and exon splicing patterns from patient samples by analyzing RT‐PCR product sequences in six P/LP intronic variants and two intronic variants of unknown significance (VUS). Altered transcriptional fragments were detected for P/LP intronic variants in BRCA1, BRIP1, CHEK2, PARB2, and PMS2. Notably, we identified an in‐frame deletion of the BRCA1 C‐terminal (BRCT) domain by exon skipping in BRCA1 c.5152+6T>C—as known VUS—indicating a risk for HBOC. Thus, exon splicing analysis can improve the identification of veiled intronic variants that would aid decision making and determination of hereditary cancer risk. [ABSTRACT FROM AUTHOR]

Maternal copy number variation (CNV), especially at the X chromosome is an important cause of false positive noninvasive prenatal test (NIPT) results for sex chromosomal aneuploidy. In addition, some maternal CNV can cause significant anomalies if the male fetus was inherited the X chromosome with CNV. During 1000 high risk Korean NIPT, we incidentally detected two cases of maternal X chromosomal CNV which can cause abnormal phenotype in a male fetus. The first false‐positive NIPT case (47, XXY) was due to a maternal 0.5 Mb duplication at Xq28, including the MECP2 gene. The second is a case of an 8‐Mb deletion on maternal Xq24q25, including GRIA3 and XIAP genes. [ABSTRACT FROM AUTHOR]

An urushi/Nafion hybrid membrane is prepared via a thermal in situ crosslinking reaction of natural urushiol to reduce the crossover of vanadium ions in an all vanadium redox flow battery (RFB). The ionic channel of the Nafion is blocked by the urushi, a crosslinked natural polymer formed by the polymerization of the adsorbed urushiol. Urushi, which has high chemical robustness in acid solution, is well‐formed within the volume of the ion cluster, and the presence of urushi inside the Nafion membrane is confirmed. The permeability and swelling decrease with increasing urushi in the hybrid membrane. The RFB with a hybrid membrane has higher efficiency than the RFB with Nafion. The coulombic and energy efficiencies are 95% and 91%, respectively, for the membrane containing 3.2 wt% of urushi at 11.1 mA cm−2, suggesting that the urushi in the hybrid membrane can suppress vanadium ion crossover. The chemical and mechanical strengths are maintained in Fenton reagent, which enables long‐term use of hybrid membranes to operate the RFB in strong acid solutions. These results suggest that the urushi/Nafion membrane with a chemically stable urushi inside the ion channel enables the successful use of all vanadium RFB as an energy storage system. A new urushi/Nafion hybrid membrane that has a high permselectivity of the vanadium ions for all‐vanadium redox flow battery was prepared. The ionic channel of the Nafion is blocked by the urushi, a chemically stable natural polymer network, via a thermal in‐situ crosslinking reaction. High performance was obtained using the urushi/Nafion hybrid membrane and the energy efficiency improved from 70% to 91%, due to the improved coulombic efficiency. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita ( ACC; MIM 107600) is a congenital skin disorder that manifests as localized absence of skin. Here we report a case of familial ACC and mega-cisterna magna. A female neonate was born with skin defects on the scalp. Brain magnetic resonance imaging demonstrated retrocerebellar space widening suggesting mega-cisterna magna. Her father also had a skin defect on the scalp at birth, and brain computed tomography of the father showed a cystic lesion over the right occipital lobe, similar to the patient's brain imaging. Karyotype 46, XX, t(6;18)(q23.2;q11.2) was identified on G-banded karyotype analysis of the patient and her father, after which whole exome sequencing was carried out, but this was thought to be a coincidental finding. This indicates that ACC may be associated with brain anomaly, although it is very rare. [ABSTRACT FROM AUTHOR]

Objectives Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening common aneuploidies, but it is not an accustomed way of testing in Korea. Our objectives were to investigate QF-PCR as a means for prenatal aneuploidy screening and to evaluate the short tandem repeat (STR) markers in a Korean population. Method Three formats of QF-PCR assays that utilize an Elucigene kit (Tepnel Diagnostics), which contains 7 primer pairs located on chromosome 21, 16 primers on chromosomes 21, 18, and 13, or 26 primers on chromosomes 21, 18, 13, X, and Y were performed. Results Eight hundred of prenatal samples were screened and the results were compared to that of the results obtained with conventional cytogenetics. The 31 of 33 (93%) autosomal and sex chromosome aneuploidies were detected excluding one case of maternal cell contamination and one case of mosaicism respectively; there were no false positives. Interestingly, submicroscopic duplication of the D13S634 marker was observed in 1.6% of cases. Conclusion For prenatal aneuploidy screening, QF-PCR was proved to be efficient and reliable. However, considering the high frequency of triallelic patterns of one STR marker that has not been found in other populations, careful evaluation is recommended in each STR marker when it is applied to different populations. Copyright © 2009 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]