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Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD). Noninvasive prenatal diagnosis (NIPD) of 21-OHD was based on 14 plasma samples collected from 12 families, including four plasma sample collected during the first trimester. Targeted capture sequencing was performed using genomic DNA from the parents and child trios to determine the pathogenic and wild-type alleles associated with the haplotypes. Maternal plasma DNA was also sequenced to determine the fetal inheritance of the allele using hidden Markov model-based haplotype linkage analysis. The effect of fetal DNA fraction and sequencing depth on the accuracy of NIPD was investigated. The lower limit of fetal DNA fraction was 2% and the threshold mean sequence depth was 38, suggesting potential advantage if used in early gestation. The CYP21A2 genotype of the fetus was accurately determined in all the 14 plasma samples as early as day 1 and 8 weeks of gestation. Results suggest the accuracy and feasibility of NIPD of 21-OHD using a small target capture region with a low threshold for fetal DNA fraction and sequence depth. Our method is cost-effective and suggests diagnostic applications in clinical practice.

The effects of a second haploidentical bone marrow transplantation with an antithymocyte antibody-containing conditioning regimen after graft failure in patients with severe aplastic anemia remain unclear. Eight severe aplastic anemia patients with graft failure with a median age of 12.5 (range, 3–22) years were retrospectively reviewed. At the second transplantation, they received a median mononuclear cell number of 15.7 (range, 11.2–20.9) × 108/kg or a median CD34+ cell number of 6.2 (range, 2.5–17.5) × 106/kg. They were all successfully engrafted, with a median time of 12.5 (range, 11–16) days for neutrophils and 24 (range, 14–50) days for platelets. Three patients developed skin acute graft-versus-host disease Grades I–II, and another 3 developed limited chronic graft-versus-host disease. All patients successfully recovered after treatment with methylprednisolone (0.5–1 mg/kg/day) and tacrolimus. One patient each died of respiratory failure caused by multidrug-resistant Klebsiella pneumoniae at 8 months and invasive fungal disease at 23 months after transplantation. Six patients survived with a 5-year estimated overall survival of 75% and a median follow-up time of 61 (range, 8–129) months. A second haploidentical bone marrow transplantation with an antithymocyte antibody-containing conditioning regimen was feasible for saving severe aplastic anemia patients with graft failure. [ABSTRACT FROM AUTHOR]

Heavy metals contamination is a serious problem of China. It is necessary to estimate bioavailability concentrations of heavy metals in agricultural soil for keeping the food security and human health. This study aimed to use hyperspectral data of rice (Oryza sativa) leaves as an indicator to retrieve the CaCl2-extractable concentrations of heavy metals in agricultural soil. Twenty-one rice samples, soil samples and reflectance spectra of rice leaves were collected, respectively. The potential relations between hyperspectral data and CaCl2-extractable heavy metals (E-HM) were explored. The partial least-squares regression (PLSR) method with leave-one-out cross-validation has been used to predict concentrations of CaCl2-extractable cadmium (E-Cd) and concentrations of CaCl2-extractable lead (E-Pb) in farmland soil. The results showed that the concentrations of E-Cd in soil had significant correlation with concentrations of Cd in rice leaves; the number of bands associated with E-Cd was more than that of E-Pb. Four indices (normalized difference vegetation index (NDVI), carotenoid reflectance index (CRI), photochemical reflectance index 2 (PRI2), normalized pigments chlorophyll ratio index (NPCI)) were significant (P < 0.05) and negatively related to the E-Cd concentrations. The PLSR model of E-Cd concentrations performed better than the PLSR model of E-Pb concentrations, which with R2 = 0.592 and RMSE = 0.046. We conclude that if the rice was sensitive to E-HM and/or the crop was stressed by the E-HM, the hyperspectral data of field rice leaves hold potentials in estimating concentration of E-HM in farmland soil. Therefore, this method provides a new insight to monitoring the E-HM content in agricultural soil. [ABSTRACT FROM AUTHOR]

Metasurfaces draw everyone's attention because they can precisely control the phase, amplitude and polarization of emergent light to achieve light field control in recent years. As one of the most practicable devices among the many applications of metasurface, metalens can extremely reduce the size as well as complexity of optical systems and realizes the higher optical quality compared with conventional lens. So it will be very potential to use metalens in integration systems to reaching higher integration and efficiency. In addition, dynamic control is always desirable in optical systems. In this work, we firstly design a near-infrared tunable metalens treating phase change materials as the meta-atoms which makes the tunable metalens become more compact. At designed wavelength of 1.55 μm, the focusing efficiency of our amorphous metalens is more than 16 times of the efficiency when it works at crystalline state, and its focal length can stay almost unchanged when the GST state is switched. The broadband performance of the metalens is also confirmed. This work may bring some good opportunities for the revolution of the next generation tunable integrated optics. [ABSTRACT FROM AUTHOR]

Metasurfaces draw everyone's attention because they can precisely control the phase, amplitude and polarization of emergent light to achieve light field control in recent years. As one of the most practicable devices among the many applications of metasurface, metalens can extremely reduce the size as well as complexity of optical systems and realizes the higher optical quality compared with conventional lens. So it will be very potential to use metalens in integration systems to reaching higher integration and efficiency. In addition, dynamic control is always desirable in optical systems. In this work, we firstly design a near-infrared tunable metalens treating phase change materials as the meta-atoms which makes the tunable metalens become more compact. At designed wavelength of 1.55 μm, the focusing efficiency of our amorphous metalens is more than 16 times of the efficiency when it works at crystalline state, and its focal length can stay almost unchanged when the GST state is switched. The broadband performance of the metalens is also confirmed. This work may bring some good opportunities for the revolution of the next generation tunable integrated optics. [ABSTRACT FROM AUTHOR]

Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease characterized by progressive loss of motor neurons. There are no definitive pathogenic mechanisms and effective treatments for ALS now. Traditional Chinese medicine (TCM) plays an important role in Chinese health care system. Huolingshengji Formula (HLSJ) is a TCM formula which is applied for treating flaccid syndrome. Our previous clinical study has indicated that HLSJ may have therapeutic effects in ALS patients. In the present study, we analyzed the chemical profile of HLSJ by the high-performance liquid chromatographic (HPLC) fingerprint analysis. And we investigated the therapeutic effects and neuroprotective mechanisms of HLSJ against ALS in SOD1 G93A mouse model. Eleven typical peaks were identified by the fingerprint analysis of HLSJ, and the HPLC method had good precision, repeatability and stability. Consistent with our clinical studies, HLSJ significantly prolonged the lifespan, extended the disease duration, and prevented the motor neuron loss in the anterior horn of the lumbar spinal cords in SOD1 G93A ALS model mice. Additionally, HLSJ alleviated the atrophy of the gastrocnemius muscles and ameliorated the apoptotic and inflammatory levels in the spinal cords of SOD1 G93A mice. Collectively, our study indicated that HLSJ might be a novel candidate for the treatment of ALS.