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Although highly appealing for rapid access of molecular complexity, multi‐functionalization of alkenes that allows incorporation of more than two functional groups remains a prominent challenge. Herein, we report a novel strategy that merges dipolar cycloaddition with photoredox promoted radical ring‐opening remote C(sp3)−H functionalization, thus enabling a smooth 1,2,5‐trifunctionalization of unactivated alkenes. A highly regioselective [3+2] cycloaddition anchors a reaction trigger onto alkene substrates. The subsequent halogen atom transfer (XAT) selectively initiates ring‐opening process, which is followed by a series of 1,5‐hydrogen atom transfer (1,5‐HAT) and intermolecular fluorine atom transfer (FAT) events. With this method, site‐selective introduction of three different functional groups is accomplished and a broad spectrum of valuable β‐hydroxyl‐ϵ‐fluoro‐nitrile products are synthesized from readily available terminal alkenes. [ABSTRACT FROM AUTHOR]

Background: Miller syndrome is a rare type of postaxial acrofacial dysostosis caused by biallelic mutations in the DHODH gene, which is characterized mainly by craniofacial malformations of micrognathia, orofacial clefts, cup‐shaped ears, and malar hypoplasia, combined with postaxial limb deformities like the absence of fifth digits. Methods: In this study, a prenatal case with multiple orofacial‐limb abnormities was enrolled, and a thorough clinical and imaging examination was performed. Subsequently, genetic detection with karyotyping, chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) was carried out. In vitro splicing analysis was also conducted to clarify the impact of one novel variant. Results: The affected fetus displayed typical manifestations of Miller syndrome, and WES identified a diagnostic compound heterozygous variation in DHODH, consisting of two variants: exon(1‐3)del and c.819 + 5G > A. We conducted a further in vitro validation with minigene system, and the result indicated that the c.819 + 5G > A variant would lead to an exon skipping in mRNA splicing. Conclusions: These findings provided with the first exonic deletion and first splice site variant in DHODH, which expanded the mutation spectrum of Miller syndrome and offered reliable evidence for genetic counseling to the affected family. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Langerhans cell histiocytosis (LCH) is a rare inflammatory myeloid neoplasm arising from the proliferation of pathologic Langerhans cells. LCH has a spectrum of presentations predominantly affecting male pediatric patients. As LCH is a relatively uncommon diagnosis, there is no standard of care for treatment of the disease and treatment is based largely on clinical judgment, lesion characteristics, and symptoms at presentation. Here we present a case of unifocal, isolated orbital LCH in a 19‐year‐old young man treated initially with surgical resection. Follow‐up imaging 2 months later demonstrated significant regrowth of the mass and no other sites of disease. The recurrent orbital disease was treated with stereotactic radiosurgery (SRS) to 7 Gy in one fraction. Near complete resolution of the mass was achieved with no recurrence after 1.5 years of follow‐up. SRS for treatment of orbital LCH is a novel treatment not previously described in the literature which may provide benefit in select cases. [ABSTRACT FROM AUTHOR]

Introduction: 123I‐MIBG scan is used in neuroblastoma (NB) to monitor treatment response. Time to resolution of 123I‐MIBG avidity after radiation therapy (RT) is unknown. We sought to determine time to resolution of 123I‐MIBG avidity after RT and local failure (LF) rate. Methods: We performed a retrospective review of children with high‐risk NB who underwent 123I‐MIBG scans pre‐ and post‐RT from 2003 to 2019. Time from RT to resolution of 123I‐MIBG activity was analysed. LF and cumulative incidence of local progression (CILP) after RT stratified by site, presence of residual disease and use of boost RT were determined. Results: Forty‐two patients with median age 3.9 years (1.9–4.7 years) were included, with median follow‐up time 3.9 years (1.4–6.9). Eighty‐six lesions were treated with RT to median dose of 21.6 Gy. Eighteen of 86 lesions were evaluable for time to resolution of MIBG avidity after RT, with median resolution time of 78 days (36–208). No LF occurred among 26 patients who received RT to primary sites after GTR, versus 4/12 (25%) patients treated with residual primary disease. 2‐year CILP was 19% (12% primary disease 25% metastatic disease (P = 0.18)). 2‐year CILP for non‐residual primary, residual primary, non‐residual metastatic and residual metastatic lesions was 0%, 42%, 11% and 30% respectively (P = 0.01) and for boosted and non‐boosted residual lesions was 29% and 35% (P = 0.44). Conclusion: Median time to MIBG resolution after RT was 78 days. Primary lesions without residual disease had excellent local control. LF rate was higher after RT for residual disease, with no benefit for boost RT. [ABSTRACT FROM AUTHOR]

A MOF named [(CH3)NH2] [H2N(CH3)2][ZnTNC4A] ⋅ 4H2O (ZnTNC4A) was synthesized by a resorcinol[4]arene functionalized tetracarboxylic acid ligand (TNC4A=2,8,14,20‐tetra‐1‐naphthalene‐6,12,18,24‐tetramethoxy‐4,10,16,22‐ tetracarboxyl‐methoxy‐resorin[4]arene). The three‐dimensional framework with one‐dimensional channels of ZnTNC4A was characterized by elemental analysis, powder X‐ray diffraction, thermogravimetry, UV‐vis diffuse reflection spectrum, infrared spectrum and N2 adsorption analyse. In addition, ZnTNC4A shows the ability of selective adsorption of methylene blue with a pseudo‐second order kinetic model. The selective adsorption kinetics of a series of dyes showed that the ion exchanged separation process was related to the size and charge of organic dyes. [ABSTRACT FROM AUTHOR]

Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a clinical, genetic, and experimental investigation, followed by a prenatal diagnosis on their current pregnancy. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1, consisting of two variants, namely c.191T>C (p.Leu64Pro) and c.5124G>A (p.Leu1708=) in the proband. In vitro study by minigene system indicated that c.5124G>A would result in an increased ratio of a transcript with exon‐skipping, which supported its pathogenicity. Further prenatal detection confirmed the genotype–phenotye co‐separation in this family. In conclusion, the findings in our study expanded the mutation spectrum of DEB, and emphasized the importance of paying attention to specific synonymous variants in the filtering process. [ABSTRACT FROM AUTHOR]

The ternary strategy can be used to optimize the light harvesting (i.e., complementary absorption), energy level alignment, and blend morphology of organic photovoltaics (OPVs). Herein, ZY‐4Cl is chosen as the third component in a PM6:Y6‐based OPV. ZY‐4Cl has a small highest occupied molecular orbital (HOMO) energy level offset with Y6 (0.02 eV) and a small lowest unoccupied molecular orbital (LUMO) energy level offset with PM6 (0.06 eV), and provided low energy loss of 0.538 eV for the resulting ternary OPV. Furthermore, the system displayed complementary absorption and a suitable value of χPM6–ZY‐4Cl, and the similar chemical structures of ZY‐4Cl and Y6 assured their great miscibility. The embedding of ZY‐4Cl improved the light harvesting, blend morphology, exciton dissociation, bimolecular/trap‐assisted recombination, and long‐term stability when comparing the ternary OPV with the PM6:Y6‐based binary OPV. Consequently, the power conversion efficiency (PCE) increased from 15.5 ± 0.22% for the binary OPV to 17.1 ± 0.23% for the ternary OPV, with the best PCE reaching 17.6%. The unencapsulated ternary OPV exhibited excellent air stability, maintaining 94% of its initial PCE for over 1390 h (25 °C, 40% humidity). This study provides a useful strategy for selecting the third component to improve the OPV performance. [ABSTRACT FROM AUTHOR]

This study reports zircon U–Pb geochronological, geochemical, and zircon Hf–O isotopic data for metavolcanic rocks from the Shitoukoumen and Yongji areas in central Jilin Province, northeast China, to reveal their petrogenesis and tectonic setting. The metavolcanic rocks collected from the Shitoukoumen and Yongji areas are composed of metabasaltic trachyandesite, metatrachyandesite, and metarhyolitic tuff. Zircon U–Pb dating results indicate that the metavolcanic rocks were erupted during 359–355 Ma. Metavolcanic rocks in the Shitoukoumen area can be divided into two groups according to their geochemical characteristics. Group‐I rocks (metabasaltic trachyandesite and metatrachyandesite) show geochemical features similar to those of ocean island basalt (OIB), with slightly lower zircon δ18O values (4.06 ± 0.42‰ to 5.16 ± 0.28‰) than those of mantle‐derived zircons, and depleted εHf(t) values (7.84–15.4). Group‐II rocks (metabasaltic andesite) show similar geochemical characteristics to those of normal mid‐ocean ridge basalt (N‐MORB). Group‐I rocks may have been derived from partial melting of enriched mantle involving high‐temperature altered oceanic crust, whereas Group‐II rocks originated mainly from partial melting of depleted mantle. Metarhyolitic tuffs from the Yongji area have high SiO2 and K2O contents, as well as high Ga/Al ratios, and show similar geochemical characteristics to those of A‐type rhyolites. The results of the study, together with published data, indicate that the eastern segment of the northern margin of the North China Craton was a passive continental margin setting during the early Carboniferous, and that the Paleo‐Asian Ocean remained open along the Changchun–Yanji suture belt until the early Carboniferous. [ABSTRACT FROM AUTHOR]

Abstract: Background: PBC is a prototypical autoimmune liver disease characterized by portal lymphoplasmacyte infiltration. ALD is a prototypical environment‐driven disease, featured by mild lymphocyte infiltration. We hypothesize that B cells are more involved in the pathogenesis of PBC. By analysing the infiltrating B cell repertoire, we aimed to unveil greater oligoclonal expansion and active clonal exchange between liver and periphery in PBC than in ALD patients. Methods: Using NGS of Ig H chain genes, we analysed the liver‐infiltrating and paired peripheral B lymphocyte repertoire from nine PBC and four ALD patients. Results: In the liver of PBC and ALD patients, (i) roughly 10% of the B lymphocytes were clonally related and highly expressed, and there were also lineages that underwent extensive clonal expansion; (ii) there was different use of IGHV/IGHJ segments between PBC and ALD, suggesting distinct Ag exposure backgrounds, but this did not lead to a significant difference in their clonal expansion level. Analysis of data sets from paired samples further revealed, (iii) direct clonal exchange and evolutionally related B cell clones between the infiltrating and peripheral repertoire; (iv) the seeding of the infiltrating clones to periphery, and peripheral ones to the liver, for further extensive evolution. Conclusions: The oligoclonally expanded nature of the infiltrating B cell repertoire implies B cell immunity is involved in the pathogenesis of both diseases. The observed clonal exchange might provide an approach to identify and monitor the infiltrating B cells through the periphery. [ABSTRACT FROM AUTHOR]

Background To report the thickness of the peripapillary retinal nerve fibre layer (pRNFL) in Chinese children and examine its association with refractive error, axial length (AL) and optic disc parameters. Design Population-based cross-sectional study. Participants A total of 2893 seven-year-old children from 11 randomly selected primary schools in Anyang, central China. Methods Participants underwent ophthalmic examinations including optical biometry, cycloplegic autorefraction and spectral-domain ocular coherence tomography. Main Outcome Measures Retinal nerve fibre layer thickness in 16 radial sections, cycloplegic spherical equivalent, AL. Results The mean (SD) average RNFL thickness was 102.01(8.02) µm. The average RNFL thickness decreased with smaller disc area ( r = 0.18, R2 = 0.03, P < 0.0001), bigger cup area ( r = −0.11, R2 = 0.01, P < 0.0001), smaller rim area ( r = 0.28, R2 = 0.08, P < 0.0001), smaller nerve head volume ( r = 0.27, R2 = 0.07, P < 0.0001), longer AL ( r = −0.15, R2 = 0.02, P < 0.0001) and a negative spherical equivalent ( r = 0.11, R2 = 0.01, P < 0.0001). Hyperopic children had a thicker RNFL than emmetropic children [102.45(8.13) µm vs. 100.81 (7.18) µm, P < 0.001]. Myopic children had thinner RNFL than emmetropic children [99.17 (7.69) µm vs. 100.81 (7.18) µm, P < 0.05]. Conclusion Retinal nerve fibre layer thickness decreased with increasing AL, higher myopia, bigger cup area, smaller disc and rim area, and a smaller nerve head volume, but the coefficient of determination for all these associations was small. The RNFL in myopes was significantly thinner than emmetropes or hyperopes, but with small absolute differences. The study provides RNFL values for healthy 7-year-old Chinese children. Follow up of this cohort to observe the change of RNFL thickness with myopia and possible change in detected associations with age is planned. [ABSTRACT FROM AUTHOR]

Objective: To determine the efficacy of imaging patients in a state of traction ('traction imaging') for selection of upper and lower vertebrae to undergo instrumentation (UIV and LIV, respectively) to correct moderate to severe, rigid scoliosis. Methods: Twenty-seven patients aged 11-21 years (average, 15.5 years) who had been treated at our institution for scoliosis of the thoracic spine between 2004 and 2008 were retrospectively analyzed. All patients were treated with the third multiple hook-screw and rod instrumentation system. Standardized radiographic measurements (anteroposterior, sagittal, bending, fulcrum, traction) were taken and Cobb's angles, apical vertebra translation (AVT), and traction-stable vertebrae determined. Results: All patients were followed for 6-36 months (average, 14.7 months). The Cobb's angles under preoperative vertical traction correlated positively with those measured postoperatively in standing anteroposterior film ( P < 0.01). Preoperative AVT under vertical traction was significantly different from that measured postoperatively in standing anteroposterior film ( P < 0.01). The traction radiography-determined UIV slant angles were significantly different from those preoperatively without traction and the postoperative values, whereas traction radiography-determined LIV values were not significantly different from those found preoperatively without traction ( P > 0.05). Conclusions: Traction radiographic imaging is an effective, feasible preoperative assessment for determining which vertebrae are stable, designing the surgical strategy and choosing the UIV and LIV for correcting moderate to severe, rigid scoliosis. [ABSTRACT FROM AUTHOR]