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Conventional phototherapeutic agents are typically used in either photodynamic therapy (PDT) or photothermal therapy (PTT). However, efficacy is often hindered by hypoxia and elevated levels of heat shock proteins in the tumor microenvironment (TME). To address these limitations, a formylated, near-infrared (NIR)-absorbing and heavy-atom-free Aza-BODIPY dye is presented that exhibits both type-I and type-II PDT actions with a high yield of reactive oxygen species (ROS) and manifests efficient photothermal conversion by precise adjustments to the conjugate structure and electron distribution, leading to a large amount of ROS production even under severe hypoxia. To improve biosafety and water solubility, the dye with an amphiphilic triblock copolymer (Pluronic F-127), yielding BDP-6@F127 nanoparticles (NPs) is coated. Furthermore, inspired by the fact that phototherapy triggers the release of tumor-associated antigens, a strategy that leverages potential immune activation by combining PDT/PTT with immune checkpoint blockade (ICB) therapy to amplify the systemic immune response and achieve the much-desired abscopal effect is developed. In conclusion, this study presents a promising molecular design strategy that integrates multimodal therapeutics for a precise and effective approach to cancer therapy., (© 2024 The Author(s). Advanced Healthcare Materials published by Wiley‐VCH GmbH.)

Photo-responsive materials have garnered significant interest for their ability to react to non-contact stimuli, though achieving self-healing under gentle conditions remains an elusive goal. In this research, an innovative and straightforward approach for synthesizing silicone elastomers is proposed that not only self-heal at room temperature but also possess unique photochromic properties and adjustable mechanical strength, along with being both transparent and reprocessable. Initially, aldehyde-bifunctional dithiophene-ethylene molecules with dialdehyde groups (DTEM) and isocyanurate (IPDI) is introduced into the aminopropyl-terminated polydimethylsiloxane (H 2 N-PDMS-NH 2 ) matrix. Subsequently, palladium is incorporated to enhance coordination within the matrix. These silicone elastomers transition to a blue state under 254 nm UV light and revert to transparency under 580 nm light. Remarkably, they demonstrate excellent thermal stability at temperatures up to 100 °C and show superior fatigue resistance. The optical switching capabilities of the silicone elastomers significantly affect both their mechanical characteristics and self-healing abilities. Notably, the PDMS-DTEM-IPDI-@Pd silicone elastomer, featuring closed-loop photo-switching molecules, exhibits a fracture toughness that is 1.3 times greater and a room temperature self-healing efficiency 1.4 times higher than its open-loop counterparts. This novel photo-responsive silicone elastomer offers promising potential for applications in data writing and erasure, UV protective coatings, and micro-trace development., (© 2024 Wiley‐VCH GmbH.)

Photoimmunotherapy represents an innovative approach to enhancing the efficiency of immunotherapy in cancer treatment. This approach involves the fusion of immunotherapy and phototherapy (encompassing techniques like photodynamic therapy (PDT) and photothermal therapy (PTT)). Boron-dipyrromethene (BODIPY) has the potential to trigger immunotherapy owing to its excellent PD and PT efficiency. However, the improvements in water solubility, bioavailability, PD/PT combined efficiency, and tumor tissue targeting of BODIPY require introduction of suitable carriers for potential practical application. Herein, a disulfide bond-based hollow mesoporous organosilica (HMON) with excellent biocompatibility and GSH-responsive degradation properties was used as a carrier to load a bithiophene Aza-BODIPY dye (B5), constructing a sample chemotherapy reagent-free B5@HMON nanoplatform achieving triple-synergistic photoimmunotherapy. HMON, involving disulfide bond, is utilized to improve water solubility, tumor tissue targeting, and PD efficiency by depleting GSH and enhancing host-guest interaction between B5 and HMO. The study reveals that HMON's large specific surface area and porous properties significantly enhance the light collection and oxygen adsorption capacity. The HMON's rich mesoporous structure and internal cavity achieved a loading rate of B5 at 11 %. It was found that the triple-synergistic nanoplatform triggered a stronger anti-tumor immune response, including tumor invasion, cytokine production, calreticulin translocation, and dendritic cell maturation, eliciting specific tumor-specific immunological responses in vivo and in vitro. The BALB/c mouse model with 4T1 tumors was used to assess tumor suppression efficiency in vivo, showing that almost all tumors in the B5@HMON group disappeared after 14 days. Such a simple chemotherapy reagent-free B5@HMON nanoplatform achieved triple-synergistic photoimmunotherapy., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Nitric oxide (NO) intervenes, that is, a potential treatment strategy, and has attracted wide attention in the field of tumor therapy. However, the therapeutic effect of NO is still poor, due to its short half-life and instability. Therapeutic concentration ranges of NO should be delivered to the target tissue sites, cell, and even subcellular organelles and to control NO generation. Mitochondria have been considered a major target in cancer therapy for their essential roles in cancer cell metabolism and apoptosis. In this study, mesoporous silicon-coated gold nanorods encapsulated with a mitochondria targeted and the thermosensitive lipid layer (AuNR@MSN-lipid-DOX) served as the carrier to load NO prodrug (BNN6) to build the near-infrared-triggered synergetic photothermal NO-chemotherapy platform (AuNR@MSN(BNN6)-lipid-DOX). The core of AuNR@MSN exhibited excellent photothermal conversion capability and high loading efficiency in terms of BNN6, reaching a high value of 220 mg/g (w/w), which achieved near-infrared-triggered precise release of NO. The outer biocompatible lipid layer, comprising thermosensitive phospholipid DPPC and mitochondrial-targeted DSPE-PEG 2000 -DOX, guided the whole nanoparticle to the mitochondria of 4T1 cells observed through confocal microscopy. In the mitochondria, the nanoparticles increased the local temperature over 42 °C under NIR irradiation, and a high NO concentration from BNN6 detected by the NO probe and DSPE-PEG 2000 -DOX significantly inhibited 4T1 cancer cells in vitro and in vivo under the synergetic photothermal therapy (PTT)-NO therapy-chemotherapy modes. The built NIR-triggered combination therapy nanoplatform can serve as a strategy for multimodal collaboration.

Aim: To describe the clinical, electrophysiological, and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same variant., Methods: The patient underwent a complete ophthalmologic examination including best-corrected visual acuity, anterior segment and dilated fundus, visual field, spectral-domain optical coherence tomography (OCT) and electroretinogram (ERG). The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the result. Then we reviewed the characteristics of the patients reported with the same variant., Results: A 30-year male presented with severe early retinal degeneration who complained night blindness, decreased visual acuity, vitreous floaters and amaurosis fugax. The best corrected vision was 0.04 OD and 0.12 OS, respectively. The fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left eye. Autofluorescence shows bilateral symmetrical hypo-autofluorescence. ERG revealed that the amplitudes of a- and b-wave were severely decreased. Multifocal ERG showed decreased amplitudes in the local macular area. A homozygous missense variant c.146C>T (chr14:68191267) was found. The clinical characteristics of a total of 13 patients reported with the same pathologic variant varied., Conclusion: An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are reported. The clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease., Competing Interests: Conflicts of Interest: Li J, None; Hu YQ, None; Cheng HB, None; Wang T, None; Kuang LH, None; Huang T, None; Yan XH, None., (International Journal of Ophthalmology Press.)

Objective: The anterior clinoid process (ACP) is surrounded by nerves and vessels that, together, constitute an intricate anatomical structure with variations that challenges the performance of individualized anterior clinoidectomy in treating lesions with different extents of invasion. In the present study, we established a 6-surface system for the ACP based on anatomical landmarks and analyzed its value in guiding ACP drilling and resection of paraclinoid meningiomas., Methods: Using the anatomical characteristics of 10 dry skull specimens, we set 9 anatomical landmarks to delineate the ACP into 6 surfaces. Guided by our 6-surface system and eggshell technique, 5 colored silicone-injected anatomical specimens were dissected via a frontotemporal craniotomy to perform anterior clinoidectomy. Next, 3 typical cases of paraclinoid meningioma were selected to determine the value of using our 6-surface system in tumor resection., Results: Nine points (A-H and T) were proposed to delineate the ACP surface into frontal, temporal, optic nerve, internal carotid artery, cranial nerve III, and optic strut surfaces according to the adjacent tissues. Either intradurally or extradurally, the frontal and temporal surfaces could be identified and drilled into depth, followed by skeletonization of the optic nerve, cranial nerve III, internal carotid artery, and optic strut surfaces. After the residual bone was removed, the ACP was drilled off. In surgery of paraclinoid meningiomas, our 6-surface system provided great benefit in locating the dura, nerves, and vessels, thus, increasing the safety of opening the optic canal and relaxing the oculomotor or optic nerves and allowing for individualized ACP drilling for meningioma removal., Conclusions: Our 6-surface system adds much anatomical information to the classic Dolenc triangle and can help neurosurgeons, especially junior ones, to increase their understanding of the paraclinoid spatial structure and accomplish individualized surgical procedures with high safety and minimal invasiveness., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Wide-bandgap perovskite solar cells (PSCs) are attracting increasing attention because they play an irreplaceable role in tandem solar cells. Nevertheless, wide-bandgap PSCs suffer large open-circuit voltage (V OC ) loss and instability due to photoinduced halide segregation, significantly limiting their application. Herein, a bile salt (sodium glycochenodeoxycholate, GCDC, a natural product), is used to construct an ultrathin self-assembled ionic insulating layer firmly coating the perovskite film, which suppresses halide phase separation, reduces V OC loss, and improves device stability. As a result, 1.68 eV wide-bandgap devices with an inverted structure deliver a V OC of 1.20 V with an efficiency of 20.38%. The unencapsulated GCDC-treated devices are considerably more stable than the control devices, retaining 92% of their initial efficiency after 1392 h storage under ambient conditions and retaining 93% after heating at 65 °C for 1128 h in an N 2 atmosphere. This strategy of mitigating ion migration via anchoring a nonconductive layer provides a simple approach to achieving efficient and stable wide-bandgap PSCs., (© 2023 Wiley-VCH GmbH.)

The fact that multidrug resistance (MDR) could induce medical device-related infections, along with the invalidation of traditional antibiotics has become an intractable global medical issue. Therefore, there is a pressing need for innovative strategies of antibacterial functionalization of medical devices. For this purpose, a multimodal antibacterial coating that combines photothermal and photodynamic therapies (PTT/PDT) is developed here based on novel heavy atom-free photosensitizer compound, BDP-6 (a kind of boron-dipyrromethene). The photothermal conversion efficiency of BDP-6 is of 55.9%, which could improve biocompatibility during PTT/PDT process by reducing the exciting light power density. Furthermore, BDP-6, together with oxidized hyaluronic acid, is crosslinked with a natural polymer, gelatin, to fabricate a uniform coating (denoted as polyurethane (PU)-GHB) on the surface of polyurethane. PU-GHB has excellent synergistic in vitro PTT/PDT antibacterial performance against both susceptible bacteria and MDR bacteria. The antibacterial mechanisms are revealed as that hyperthermia could reduce the bacterial activity and enhance the permeability of inner membrane to reactive oxygen species by disturbing cell membrane. Meanwhile, in an infected abdominal wall hernia model, the notable anti-infection performance, good in vivo compatibility, and photoacoustic imaging property of PU-GHB are verified. A promising strategy of developing multifunctional antibacterial coatings on implanted medical devices is provided here., (© 2023 The Authors. Advanced Science published by Wiley-VCH GmbH.)

The use of boron dipyrromethene (BODIPY) in biomedicine is reviewed. To open, its synthesis and regulatory strategies are summarized, and inspiring cutting-edge work in post-functionalization strategies is highlighted. A brief overview of assembly model of BODIPY is then provided: BODIPY is introduced as a promising building block for the formation of single- and multicomponent self-assembled systems, including nanostructures suitable for aqueous environments, thereby showing the great development potential of supramolecular assembly in biomedicine applications. The frontier progress of BODIPY in biomedical application is thereafter described, supported by examples of the frontiers of biomedical applications of BODIPY-containing smart materials: it mainly involves the application of materials based on BODIPY building blocks and their assemblies in fluorescence bioimaging, photoacoustic imaging, disease treatment including photodynamic therapy, photothermal therapy, and immunotherapy. Lastly, not only the current status of the BODIPY family in the biomedical field but also the challenges worth considering are summarized. At the same time, insights into the future development prospects of biomedically applicable BODIPY are provided., (© 2023 Wiley-VCH GmbH.)

Intracerebral hemorrhage (ICH) is lethal but lacks effective therapies. Nicotinamide adenine dinucleotide (NAD + ) is a central metabolite indispensable for a broader range of fundamental intracellular biological functions. Reduction of NAD + usually occurs after acute brain insults, and supplementation of NAD + has been proven neuroprotective. P7C3-A20 is a novel compound featuring its ability to facilitate the flux of NAD + . In this study, we sought to determine the potential therapeutic value of P7C3-A20 in ICH. In collagenase-induced ICH mouse models, we found that P7C3-A20 treatment could diminish lesion volume, reduce blood-brain barrier (BBB) damage, mitigate brain edema, attenuate neural apoptosis, and improve neurological outcomes after ICH. Further, RNA sequencing and subsequent experiments revealed that ICH-induced neuroinflammation and microglial proinflammatory activities were significantly suppressed following P7C3-A20 treatment. Mitochondrial damage is an important trigger of inflammatory response. We examined mitochondrial morphology and function and found that P7C3-A20 could attenuate OxyHb-induced impairment of mitochondrial dynamics and functions in vitro. Mechanistically, Sirt3, an NAD + -dependent deacetylase located in mitochondria, was then found to play a vital role in the protection of P7C3-A20 against mitochondrial damage and inflammatory response. In rescue experiments, P7C3-A20 failed to exert those protective effects in microglia-specific Sirt3 conditional knockout (CKO) mice. Finally, preclinical research revealed a correlation between the plasma NAD + level and the neurological outcome in ICH patients. These results demonstrate that P7C3-A20 is a promising therapeutic agent for neuroinflammatory injury after ICH and exerts protective actions, at least partly, in a Sirt3-dependent manner., Competing Interests: The authors declare no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper., (Copyright © 2023 Yang Wu et al.)

Defect passivation via post-treatment of perovskite films is an effective method to fabricate high-performance perovskite solar cells (PSCs). However, the passivation durability is still an issue due to the weak and vulnerable bonding between passivating functional groups and perovskite defect sites. Here we propose a cholesterol derivative self-assembly strategy to construct crosslinked and compact membranes throughout perovskite films. These supramolecular membranes act as a robust protection layer against harsh operational conditions while providing effective passivation of defects from surface toward inner grain boundaries. The resultant PSCs exhibit a power conversion efficiency of 23.34 % with an impressive open-circuit voltage of 1.164 eV. The unencapsulated devices retain 92 % of their initial efficiencies after 1600 h of storage under ambient conditions, and remain almost unchanged after heating at 85 °C for 500 h in a nitrogen atmosphere, showing significantly improved stability., (© 2022 Wiley-VCH GmbH.)

Diarylethene (DAE) photoswitch is a new and promising family of photochromic molecules and has shown superior performance as a smart trigger in stimulus-responsive materials. During the past few decades, the DAE family has achieved a leap from simple molecules to functional molecules and developed toward validity as a universal switching building block. In recent years, the introduction of DAE into an assembly system has been an attractive strategy that enables the photochromic behavior of the building blocks to be manifested at the level of the entire system, beyond the DAE unit itself. This assembly-based strategy will bring many unexpected results that promote the design and manufacture of a new generation of advanced materials. Here, recent advances in the design and fabrication of diarylethene as a trigger in materials science, chemistry, and biomedicine are reviewed., (© 2022 Wiley-VCH GmbH.)

Theranostic systems that permit both diagnosis and treatment in vivo are highly appealing means by which to meet the demands of precision medicine. However, most such systems remain subject to issues related to complex molecular design and synthesis, potential toxicity, and possible photoactivity changes. Herein, a novel supramolecular theranostic strategy involving biomarker protein activation (BPA) and a host-guest strategy is proposed. To exemplify BPA, a facile "one-for-all" nanotheranostic agent for both albumin detection and cancer treatment is demonstrated, which utilizes a nanoparticulate heavy-atom-free BODIPY dye derivative (B4 NPs). The fluorescence and photoactivity of BODIPY dyes are completely suppressed by aggregation-induced self-quenching in the nanoparticulate state. However, a Balb/c nude mouse model is used to confirm that following the disassembly of injected B4 NPs, BODIPY specifically binds albumin in vivo, accompanied by significantly enhanced biocompatibility and photothermal conversion efficiency. More importantly, this supramolecular host-guest BPA strategy enables the resultant nanoplatform to act as a facile and efficient strategy for photodynamic and photothermal immunotherapy., (© 2022 Wiley-VCH GmbH.)

Azobenzene is a well-known derivative of stimulus-responsive molecular switches and has shown superior performance as a functional material in biomedical applications. The results of multiple studies have led to the development of light/hypoxia-responsive azobenzene for biomedical use. In recent years, long-wavelength-responsive azobenzene has been developed. Matching the longer wavelength absorption and hypoxia-response characteristics of the azobenzene switch unit to the bio-optical window results in a large and effective stimulus response. In addition, azobenzene has been used as a hypoxia-sensitive connector via biological cleavage under appropriate stimulus conditions. This has resulted in on/off state switching of properties such as pharmacology and fluorescence activity. Herein, recent advances in the design and fabrication of azobenzene as a trigger in biomedicine are summarized., (© 2021 Wiley-VCH GmbH.)

The development of activatable photosensitizers to allow for the reversible control of singlet oxygen ( 1 O 2 ) production for photodynamic therapy (PDT) faces great challenges. Fortunately, the flourishing field of supramolecular biotechnology provides more effective strategies for activatable PDT systems. Here, we developed a new reversible PDT on a switch that controls the 1 O 2 generation of self-assembled albumin nanotheranostics in vitro and in vivo. A new molecular design principle of aggregation-induced self-quenching photochromism and albumin on-photoswitching was demonstrated using a new asymmetric, synthetic diarylethene moiety DIA . The photosensitizer porphyrin and DIA were incorporated as building blocks in a glutaraldehyde-induced covalent albumin cross-linking nanoplatform, HSA-DIA-porphyrin nanoparticles (NPs). More importantly, the excellent photoswitching property of DIA enables the resultant nanoplatform to act as a facile, switchable strategy for photodynamic-immunotherapy.

Organic-inorganic hybrid materials have drawn increasing attention as photothermal agents in tumor therapy due to the advantages of green synthesis, high loading efficiency of hydrophobic drugs, facile incorporation of theranostic iron, and excellent photothermal efficiency without inert components or additives. Herein, we proposed a strategy for biomimetic engineering-mediated enhancement of photothermal performance in the tumor microenvironment (TME). This strategy is based on the specific characteristics of organic-inorganic hybrid materials and endows these materials with homologous targeting ability and photothermal stability in the TME. The hybrid materials perform the functions of cancer cells to target homolytic tumors (acting as "artificial nanotargeted cells (ANTC)"). Inspired by the pH-dependent disassembly behaviors of tannic acid (TA) and ferric ion (Fe III ) and subsequent attenuation of photothermal performance, cancer cell membranes were self-deposited onto the surfaces of protoporphyrin-encapsulated TA and Fe III nanoparticles to achieve ANTC with TME-stable photothermal performance and tumor-specific phototherapy. The resulting ANTC can be used as contrast agents for concurrent photoacoustic imaging, magnetic resonance imaging, and photothermal imaging to guide the treatment. Importantly, the high loading efficiency of protoporphyrin enables the initiation of photodynamic therapy to enhance photothermal therapeutic efficiency, providing antitumor function with minimal side effects.

The results of numerous studies have led to the development of supramolecular (assembled) organic substances for use in biomedical imaging as part of comprehensive approaches to the diagnosis of diseases. This review summarizes recent advances that have been made in the design and fabrication of assembled organic dyes for fluorescence and photoacoustic bioimaging.

To explore a new technique of planting wheat with high yield and efficiency by mulching technology in rain-fed semiarid regions in Northwest China, a two-year fixed-site trail was conducted during 2013-2015. There were five mulching modes: (1) three sowing rows by bundled straw mul-ching with alternating 30-cm-wide mulching belt and planting belt (SM 1 ), (2) four sowing rows by bundled straw mulching with alternating 40-cm-wide mulching belt and planting belt with (SM 2 ), (3) five sowing rows by bundled straw mulching with alternating 50-cm-wide mulching belt and planting belt (SM 3 ), (4) whole plastic film mulching with dibbling (PMF), (5) bare field planting without any mulching (CK). We examined the effects of different mulching modes on water consumption, water use efficiency (WUE), and yield of winter wheat in rain-fed region in Northwest China. The results showed that bundled straw mulching significantly increased soil water storage. Soil water storage with bundled straw mulching was remarkably higher than that with the whole plastic mul-ching with SM 1 ＞SM 2 ＞SM 3 . Soil water storage at 0-200 cm soil layer in flowering period was increased by 15.4%-20.8%,11.2%-14.7%and 10.1%-14.5% respectively over that in the bare field. Bundled straw mulching significantly increased water consumption during the whole growing period while reduced water consumption from sowing and flowering periods. Further, it increased water consumption from flowering to maturity periods and the ratio of water consumption during this period to the total water consumption during the whole growing periods. The results showed that mulching could increase the consumption ratio of deep water storage from the soil layer below 120 cm. Compared with CK, PMF and SM significantly increased grain yield and water use efficiency by 11.9%-19.5%, 26.9%-27.1%, respectively, and increased water use efficiency by 9.8%-13.9%, 18.4%-22.0% respectively. In all, bundled straw mulching could reduce water consumption ratio in the early growing periods, improve moisture condition, increase grain yield and water use efficiency of winter wheat. Therefore, we concluded that bundled straw mulching is an environment-friendly cultivation technology suitable for the winter wheat in semi-arid region of the Loess Plateau in Northwest China.

In this study, In(OH)₃ nanocrystals with three morphologies including rods, cubes and spheres were synthesized through a hydrothermal method. The morphology and crystalline were manipulated by controlling the growth speed and the addition of ascorbic acid. The InVO₄ nanocrystals were obtained by a process sacrificing In(OH)₃ templates. The phase transformation of rods and cubes generated size-controllable products, whereas that of nanospheres formed hollow micro-spheres. InVO₄ nanocrystals display a brilliant yellow emission band with the peak at 517 nm. Intriguingly, luminescent rare-earth Eu ions with red emission could be doped into InVO₄ nanocrystals during the phase transformation. Excitation and the emission spectra indicated an excitation energy transfer from the vanadate to the rare-earth ions.

The precise control of singlet oxygen ( 1 O 2 ) generation is in great demand for biological studies and precision medicine. Here, a nanoarchitecture is designed and synthesized for generating 1 O 2 in a dual NIR light-programmable manner, while shifting to the therapeutic window. The nanoarchitecture is constructed by controlled synthesis of mesoporous silica-coated upconversion nanoparticles (UCNPs), wherein the porphyrin photosensitizers (PSs) are covalently embedded inside the silica walls while NIR (808 nm)-responsive diarylethene (DAE) photochromic switches are loaded in the nanopores. Upon irradiation with 980 nm NIR light, the UCNP core absorbs low energy photons and transfers energy to the PSs in the silica wall, leading to efficient 1 O 2 generation. Furthermore, this 980 nm NIR light photosensitized activity can be remotely controlled by irradiation with a distinct NIR wavelength (808 nm). The 1 O 2 generation is inhibited when the DAE installed in the nanopores is in the closed form, whereas irradiation of the nanoconstruct with 808 NIR light leads to the transformation of DAE to the open form, and thus enabling full recovery of the 980 nm NIR light excited 1 O 2 generation capability. The NIR light-mediated on-demand "activation" of the nanoarchitecture for bioimaging and controllable photodynamic therapy is further demonstrated in vitro and in vivo ., (This journal is © The Royal Society of Chemistry 2019.)

In the current study, a new nanoparticle platform, NanoAzoPcS, is created by co-assembly of phthalocyanine and azobenzene amphiphiles, which can be used to gain precise control of PDT simply by regulating the stoichiometric ratio of the components and using light irradiation. The results of antibacterial studies show that NanoAzoPcS serves as a smart PS for controlled PDT.

Aneurysmal subarachnoid hemorrhage (SAH) is a complex neurovascular syndrome with high disability and mortality. SAH patients may be managed with surgical clipping or coil embolization. In this study, we provided a real-world analysis of the outcome and prognostic factors of aneurysmal SAH in patients treated with coil embolization or microsurgical clipping.We retrospectively analyzed the medical records of aneurysmal SAH patients (n = 583) who underwent treatment at the First Hospital and the Second Hospital of Hebei Medical University, and Tangshan Worker's Hospital in China. All patients were evaluated by a combined neurosurgery and interventional neuroradiology team. Microsurgical aneurysmal clipping was performed using the skull base approach, while coil embolization was performed with bare platinum coils (with or without balloon assistance). The primary outcome was the Glasgow Outcome Scale (GOS) score at discharge.A total of 583 patients were included in this study, of which 397 (68.1%) of them underwent clipping and 186 (31.9%) received coil embolization. The patient cohort consisted of both poor grade and good grade aneurysmal SAH: 441 (75.6%) patients had good-grade (Hunt and Hess grade II or III) and 142 (24.4%) had poor grade (Hunt and Hess grade IV or V). Overall, 123 (21%) patients had unfavorable neurologic outcome (GOS score 1-3) and 460 (78.9%) patients had favorable neurologic outcome (GOS score 4 or 5). The mean GOS score at discharge was comparable for patients who underwent clipping and those received coil embolization (P > .05). Multivariate analysis showed that clipping only [OR (95%CI): 0.03 (0.01, 0.36); P = .000] and clipping with CSF drainage [OR (95%CI): 0.41 (0.18, 0.89); P = .001] were independent factors of a favorable outcome in patients with aneurysmal SAH. Coil embolization with hematoma removal [OR (95%CI): 0.03 (0.01, 0.36); P = .000] was also an independent determinant of a favorable outcome. High baseline Fisher grades were associated with significantly increased risk of an unfavorable outcome [OR (95%CI): 2.08 (1.30, 3.33); P = .002].Our findings suggested that both coil embolization and microsurgical clipping are viable treatment options for aneurysmal SAH patients. Procedures, such as CSF drainage and hematoma removal, performed in parallel with coil embolization and chipping should be considered when treating individual patients.

In this investigation, a new terpyridine metal complex was developed as a probe for selective detection of ATP and imaging of melanoma cells. The probe takes advantage of the ability of the metal complex to be transformed to its imaging competent turn-on state through assembly with ATP., (© 2019 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.)

To evaluate the effects of straw belt-covering on soil temperature and yield of winter wheat in rain-fed semiarid region in Northwest China, five mulching modes, including flat field planting without any mulching (CK), whole plastic film mulching (PM), straw mulching by 30 cm covering belt with an interval of 30 cm planting belt with three-row sowing (SM 1 ), straw mulching by 40 cm covering belt with an interval of 40 cm planting belt with four-row sowing (SM 2 ), and straw mulching by 50 cm covering belt with an interval of 50 cm planting belt with five-row sowing (SM 3 ), were set by two-year fixed-site trails in 2013-2015. The results showed that soil temperature significantly varied among different growth stages and soil layers in all treatments. SM 1 , SM 2 and SM 3 significantly decreased soil temperature by 1.0-1.3 ℃, 0.7-0.9 ℃ and 0.7-1.1 ℃ in the 0-25 cm soil layer, respectively. The mulching had double effects with increasing and decreasing soil temperatures. The straw mulching significantly increased soil temperature in the duration of seedling to overwintering stage, but greatly decreased soil temperature in the duration of reviving to mature stage. The temperature-increasing effect of film mulching was stronger than that of straw mulching, which was opposite to the temperature-decreasing effect. Straw mulching significantly reduced in the effective accumulated temperature and the daily temperature variations during the whole growth stages. The effective accumulated temperature under straw mulching decreased by 3.4-33.5 ℃·d, and the soil temperature difference decreased by 0.6-2.0 ℃. During over-wintering stage, the straw mulching showed a higher average soil temperature (0.2-0.3 ℃) and negative accumulated temperature (0.4-17.0 ℃·d) than those under the CK. The straw mulching significantly increased grain yield by 11.9%-19.5%. The variations of spikes per unit area were the main factor responsible for yield difference. The findings indicated that that straw mulching method is suitable for winter wheat production in rain-fed region of Northwest China.

Objective: To investigate the prevalence of Ureaplasma urealyticum (UU) infection in infertile men, its influence on routine semen parameters and the distribution of antisperm antibody (AsAb) and its types in infertile patients with UU infection., Methods: We detected the positive rate of UU infection, semen parameters, and the distribution of AsAb and its types in 662 infertile men and 25 normal fertile male controls followed by comparison of the obtained data between the two groups of subjects., Results: The positive rate of UU infection was significantly higher in the infertile men than in the normal controls (52.87% ［350/662］ vs 16.00% ［4/25］, χ2 = 11.68, P <0.05). The semen volume, sperm count, sperm concentration and percentage of progressively motile sperm were remarkably lower in the UU-positive infertile males than in the control group (P <0.05). No statistically significant difference was observed between the UU-positive and UU-negative groups in the positive rates of total AsAb (43.4% vs 36.5%, χ2 = 3.25, P >0.05) and AsAb IgA, IgM and IgG in the seminal plasma, or in the percentages of serum AsAb IgM (16.9% vs 20.5%, χ2 = 1.22, P >0.05) and IgG (32.7% vs 28.9%, χ2 = 0.99, P >0.05) except in that of serum AsAb IgA (23.6% vs 17.0%, χ2 = 4.03, P <0.05)., Conclusions: The UU infection rate is high in infertile males, which decreases the semen volume, total sperm count, motile sperm concentration and percentage of progressively motile sperm and increases the positive rate of serum AsAb IgA.

Supramolecular polymers are polymers based on monomeric units held together with directional and reversible noncovalent interactions. Compared with traditional polymers, they possess better processability and better recycling properties, owing to their reversible monomer-to-polymer transition. Herein, we report the construction of a new supramolecular system through self-assembly of a thymine-substituted copillar[5]arene 1 and a tetraphenylethylene (TPE) derivative 2 in the presence of Hg 2+ . Copillar[5]arene 1 can coordinate with Hg 2+ tightly through T-Hg 2+ -T pairings. On the other hand, 1 can bind with guest molecule 2 through host-guest interactions between the pillararene cavity and the nitrile moiety of 2. These joint interactions generate crisscrossed networks composed of 1, 2, and Hg 2+ , which eventually wrap into spherical nanoparticles. Due to the aggregation-induced emission (AIE) properties of 2, the formed supramolecular polymer exhibits strong fluorescence which renders convenient the detection of the Hg 2+ -containing nanoparticles and the subsequent removal procedure. Furthermore, the polymer precipitate can be readily isolated by simple treatment, and the pseudorotaxane 2 ⊂ 1 can be recycled and reused. Our study has demonstrated a practical strategy for the sensing and removal of heavy metal ions in water by the construction of supramolecular polymers.

Objective: Sperm DNA fragmentation (SDF) is widely used to predict male infertility and the methods of detecting SDF are varied. This study aimed to compare two methods of SDF detection and investigate the correlation between SDF and sperm quality., Methods: Using sperm chromatin structure assay (SCSA) and sperm chromatin dispersion test (SCD), we detected SDF in 108 semen samples collected in the Center of Reproduction and Genetics of Suzhou Municipal Hospital. We compared the results of the two methods and analyzed the correlations of SDF routine semen parameters, sperm morphology and the age of the patients., Results: A significant consistency was found in the SDF index (DFI) between the two methods (P<0.01). The DFI was correlated negatively with sperm motility, the percentage of progressively motile sperm, and that of morphologically normal sperm (P <0.01), but positively with the teratozoospermia index (P <0.01 in SCSA and P <0.05 in SCD). The DFI measured by SCSA showed a significantly positive correlation with the patients' age (P <0.01), but not that obtained by SCD., Conclusions: The results of both SCSA and SCD play an important role in predicting sperm quality. As a clinical index, the DFI has a predictive value for male infertility. However, the results of different detecting methods vary widely, which calls for further studies on their standardization.

A new europium complex coordinated between a Eu(III) ion and an unsymmetrical diarylperfluorocyclopentene yields a light-controlled diarylethene-europium dyad, DAE@TpyEu(tta)3, whose photophysical properties can be reversibly switched by optical stimuli. When DAE@TpyEu(tta)3 is exposed to 365 nm UV light, an efficient intramolecular photochromic fluorescence resonance energy transfer (pc-FRET) occurs between the emission of the Eu(3+) donor (D) and the absorption of the diarylethene acceptor (A) in closed-form DAE@TpyEu(tta)3 accompanied by luminescence quenching. However, the pc-FRET process could be effectively inhibited by visible light (λ > 600 nm) irradiation, and the lanthanide emission of DAE@TpyEu(tta)3 is rapidly recovered. Furthermore, this luminescent lanthanide molecular switch could serve as a highly reliable and sensitive "turn on" fluorescent marker in living cells irradiated by red light without any optical interference.

The potential implication of photochromic materials with absorption and reactivity in the near-infrared region is far-reaching. In this work, three novel bisindole-containing diarylethene derivatives 1o–3o have been successfully synthesized and their photochromic behaviour exhibits a strong bathochromic shift effect compared with bisbenzothiophene diarylethene 4o. These new bisindole-diarylethene compounds 1o–3o are highly sensitive to photo-stimuli both in solution and in poly(methyl methacrylate) films. Besides, 1o–3o exhibit an excellent reversible fluorescence switching behavior modulated by optical stimuli.

Objective: To study the application value of normal sperm morphology on the outcomes of classic in vitro fertilization and embryo transfer (IVF-ET)., Methods: This study included 659 infertile couples admitted to our center for IVF-ET. Based on the percentage of morphologically normal sperm (MNS), we divided the patients into groups A (n = 112, MNS < 2%), B (n = 180, MNS > or = 2 - < 4%), C (n = 74, MNS > or = 4 - < 5%), and D (n = 293, MNS > or = 5%), and compared the rates of fertilization, normal fertilization, embryos obtained, biochemical pregnancy, clinical pregnancy, implantation, and live birth among different groups., Results: The mean fertilization rate was significantly higher in groups C (71.90%) and D (72.89%) than in A (57.97%) and B (63.29%) (P < 0.05), with no remarkable differences either between A and B (P > 0.05) or between C and D (P > 0.05). The normal fertilization rate was also significantly higher in group D (57.16%) than in A (46.52%) and B (50.89%) (both P < 0.05) as well as in C (54.67%) than in A (P < 0.05). The rate of embryos obtained, too, was markedly higher in group D (55.62%) than in B (45.75%) (P < 0.05), but none with remarkable difference from other groups (all P > 0.05). There were no statistically significant differences among the four groups in the rates of biochemical pregnancy, clinical pregnancy, implantation, abortion, and live birth (all P > 0.05)., Conclusion: The rate of MNS had some influence on IVF-ET, and 5% MNS exhibited a higher value than 4% MNS in predicting the outcomes of IVF.

Recombinant inbred lines (RIL, Longjian 19 x Q9086, F8) and their parents were undertaken to study characteristics of quantitative genetics of water soluble carbohydrates (WSC) accumulation, remobilization and its contribution to grain mass in different main stem internodes at the grain-filling stage as well as the correlations among the target traits under the rainfed (DS) or well-watered (WW) condition. All of the target traits of RIL had wide variations under both water conditions. The variation coefficient ranged from 2.7% to 62.1% under the DS, and from 1.9% to 52.1% under the WW. The diversity index varied from 0.61 to 0.90 under the DS, and from 0.64 to 0.89 under the WW. All tested traits were significantly affected by the genotype, water condition, internode and growth stage. The growth stage exerted strong impacts on the WSC content. The water condition and internode greatly influenced the WSC remobilization rate. But, the WSC contribution rate to grain was jointly controlled by the genotype, water condition and internode. There were significantly positive correlations between the WSC contents at the early flowering and grain-filling stages, the WSC remobilization rate and its contribution rate to grain at pre-anthesis stage, with the higher correlation coefficients under the DS than under the WW. All traits showed low heri- tability under both water conditions (hB2 = 0.31-0.56 under the DS, 0.44-0.67 under the WW). The numbers of gene pairs controlling all traits ranged from 6 to 29 under the DS, and from 3 to 19 under the WW. It indicated that alleles responsible for all the target traits of RIL showed substantially transgressive segregation and greatlysignificant sensitivity to the water condition, confirming the characteristics of quantitative traits.

Two supramolecular complexes of trans-1⊂CB[8] and trans-2⊂CB[8] were successfully achieved by the controlled selective complexation process of cucurbit[8]uril (CB[8]) with hetero-guest pair containing azobenzene and bispyridinium moieties in aqueous solution, exhibiting the reversibly light-driven movements of CB[8] upon the photocontrollable isomerization of azophenyl axle components. Significantly, the obtained bistable supramolecular complexes and their corresponding [2]pseudorotaxanes could act as a promising concentrator and cleavage agent to regulate the binding behaviors with DNA molecules.

The effect of biosurfactant rhamnolipid (RL) on hydrolysis and acidification of waste activated sludge (WAS) was investigated. The results indicated that RL could greatly reduce the surface tension of sludge, resulting in stimulating the hydrolysis rate of WAS and enhancing the production of short-chain fatty acids (SCFAs). With the increase of RL dosage from 0.2 to 0.5 g/g DS, the maximum soluble chemical oxygen demand (SCOD), protein and carbohydrate concentration increased correspondingly. After 6 h of hydrolysis, SCOD, protein and carbohydrate concentration increased from 371.9, 93.3 and 9.0 mg/l to 3,994.5, 800.0 and 401.4 mg/l at RL 0.3 g/g DS, respectively. Furthermore, the release of NH4 (+)-N, PO4 (3-)-P and the accumulation of SCFAs also improved in the presence of RL. The maximum SCFAs was 1,829.9 mg COD/l at RL 0.3 g/g DS, while it was only 377.7 mg COD/l for the blank test. The propionic acid and acetic acid were the mainly SCFAs produced, accounting for 50-60% of total SCFAs.

This paper studied the effects of different mulching modes on the soil moisture in a semi-arid rainfed area of Loess Plateau, Northwest China. Seven treatments were installed, i. e., mulching plastic film in summer (T1), mulching plastic film in autumn (T2), mulching 5 cm long wheat straw in summer (T3), mulching whole wheat straw in summer (T4), mulching plastic film in summer plus wheat straw (T5), mulching used plastic film after harvest (T6), and un-mulching (CK). In T6, the soil moisture in different layers at different crop growth stages was all higher than that in CK. In the other five mulching treatments, the soil moisture in 0-90 cm layer before flowering stage was obviously higher, but that in 0-90 cm layer after flowering stage and in 90-200 cm layer during the whole growth season was lower than that of CK. The soil moisture in 0-200 cm layer in T6 during the whole growth period was significantly higher than that in CK, with a difference of 0.9%, but the soil moisture in 0-200 cm layer in other mulching treatments was lower. As compared with plastic film mulching, straw mulching increased the soil moisture in 0-200 cm layer. The soil moisture under mulching with used plastic film after harvest was higher than that under mulching with new plastic film. As compared to CK, the grain yield of winter wheat with plastic film mulching was increased by 20.3%-29.0%, and that With straw mulching was increased by 5.0%-16.7%. There was a significant positive correlation between the crop productivity and the soil water consumption during the growth period (r = 0.77*).

Based on the grain yield data of regional trials with 233 winter- and spring wheat cultivars (lines) in rainfed farmlands at 82 locations in four subregions of China in 2003-2009, this paper studied the experiment precision (EP), variety comparison precision (VCP), and testing-site discrimination ability and representativeness of national regional trials, and comprehensively evaluated the trial environment. The results showed that in one-location-one-year experiments, the average coefficient of variation (CV) and the relative least significant difference (RLSD) were 6.1% and 10.5%, respectively, and in multi-location-one-year experiments, the CV was all within 8.2%, and the CV and RLSD were mostly well controlled, indicating that the trials had a high precision. The testing-site discrimination ability was the highest in the northwest spring wheat subregion, but showed less difference in the other subregions. The testing-site representativeness was the best in the northeast spring wheat subregion, and the worst in the northwest spring wheat subregion. On the basis of the comprehensive consideration of the testing-site discrimination ability and representativeness, and by using the parameters of the environmental comprehensive assessment (r(g)h) of GGE model, it was shown that the proportion of the ideal trial locations for wheat in our rainfed farmlands was only 32.4%. Among the wheat production regions, the proportions of the ideal trial locations were in the order of northwest spring wheat subregion (40.9%) > northeast spring wheat subregion (33.3%) > Huang-Huai winter wheat subregion (30.4%) > north winter wheat subregion

Objective: To evaluate histopathologic examination of the testis tissue from testicular sperm aspiration (TESA)., Methods: We analyzed the results of inverted microscopy and histopathologic examination of 96 samples of testis tissue from TESA, and compared the accuracy of the two methods in detecting sperm in the testis tissue., Results: Among the 11 cases in which sperm was found by inverted microscopy, 9 were confirmed by histopathologic examination, and among the 57 cases in which sperm was not detected by inverted microscopy, 11 (19.3%) were found with sperm by histopathologic examination. Histopathologically, the cases in which sperm was not found by inverted microscopy included Sertoli-cell-only syndrome (n = 34), maturation arrest (n = 12) and hypospermatogenesis (n = 11)., Conclusion: Histopathologic examination may reveal sperm in the TESA testis tissue proved to be sperm-absent by microscopy, and thus offer valuable information for a second testicular sperm retrieval.

A [2]pseudorotaxane formed from an unsymmetrical diarylperfluorocyclopentene (1) and a Eu(3+) complex of terpyridinyldibenzo-24-crown-8 (2) revealed excellent reversible lanthanide luminescence switching behavior dual-modulated by host-guest and optical stimuli.

Two winter wheat cultivars with different drought tolerance were selected to investigate the effects of source-sink regulation on the vegetative organs water soluble carbohydrates (WSC) content and 1000-grain mass (TGM) of wheat under drought stress (DS) and well watered (WW) conditions. Sink-cutting increased the WSC content of different vegetative organs significantly, and promoted the relative transportation of the WSC positively; while source-cutting caused opposite responses. The effects of source-sink regulation on the WSC content and its relative transportation amount (TA) and transportation rate (TR) were significantly higher under DS and sink-cutting than under WW and source-cutting, for drought-resistant cultivar (Longjian 19) than for drought-sensitive Q9086, and for peduncle internode and PedI than for penultimate internode and PenI. Under source-cutting, the superior organs of Longjian 19 in the TR of total WSC were sheath, PedI, and PenI, which also contributed to the fructan TR of the two cultivars, while those of Q9086 were the PenI and the third internode from top (ThiI). Source-cutting decreased the TGM of Longjian 19 and Q9086 significantly, with the decrement being 27.3% and 31.7% under DS and 25.3% and 12.1% under WW, respectively. The correlation coefficients of the WSC content and its TA and TR and the TGM were significantly higher under sink-cutting than under source-cutting, and also, under DS than under WW. There existed a higher correlation coefficient (r2 > 0.900) of the TGM and the total WSC and fructan contents in different vegetative organs. The vegetative organs with closer correlation between their WSC content and its TA and TR and the TGM were mainly sheath and PedI. Under DS, the traits associated with the total WSC content had a higher correlation with TGM; under WW, the traits associated with sucrose and glucan contents generally showed a higher correlation with TGM. It was suggested that the effects of source-sink regulation on the WSC content of vegetative organs and the TGM were significantly affected by soil water environment, wheat genotype, and vegetative organs location.

Aim: To detect the mutations in two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese family with primary open angle glaucoma (POAG)., Methods: The family was composed of three members, the parents and a daughter. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 genes were screened for sequence alterations by polymerase chain reaction (PCR) and direct DNA sequencing., Results: The mother was the proband, she was diagnosed as POAG in both eyes. Her daughter was diagnosed as juvenile-onset POAG. The father was asymptomatic. One MYOC heterozygous mutation c.1150 G>A (D384N) in exon 3 was identified in the mother, another MYOC heterozygous variation c.1058 C>T (T353I) in exon 3 was identified in the father, and the daughter inherited both of the variations. Meanwhile, three single nucleotide polymorphisms (SNPs) in CYP1B1 gene were found in the family., Conclusion: The D384N mutation of MYOC has been reported as one of disease-causing mutations in POAG, whereas T353I variation of MYOC was thought as a high risk factor for POAG. The two variations of MYOC were first reported in one juvenile-onset POAG patient who presented with more severe clinical manifestations, suggesting that T353I polymorphism of MYOC may be associated with the severity of POAG.

Objective: To screen for genetic mutations in families featuring non-syndromic hearing loss., Methods: Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced., Results: Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC+299&#95;300 delAT compound heterozygous mutation, and 6 were 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G mutation of mitochondrial DNA (mtDNA) was found in the 16 families., Conclusion: The incidence of mtDNA 12S rRNA 1555A>G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64.7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.

A total of 120 recombinant inbred lines (RIL) derived from Chinese winter wheat cultivars Longjian 19xQ9086 and the two parents were taken as test materials to study the quantitative genetics characteristics of their plant height at different development stages, thousand-grain mass, as well as the correlations between the two traits under rainfed (drought stress) and well-watered conditions, and evaluate the genetic variation of the RIL. Under the two water conditions, the target traits of the RIL showed substantial transgressive segregation and great sensitivity to water condition. The drought stress coefficient of the plant height was higher at jointing stage, being up to 0.851. There was a significant positive correlation between the plant height at different development stages and the thousand-grain mass, and comparing with that at other growth stages, the plant height at jointing stage had a higher correlation coefficient with the thousand-grain mass (R2DS = 0.32, R2WW = 0.28). The plant height at both jointing and flowering stages had significant positive and direct effect but negative and indirect gross effect on the thousand-grain mass, while the plant height at heading and maturing stages was in adverse. The target traits showed a lower heritability ranged from 0.27 to 0.60. The numbers of the gene pairs controlling the thousand-grain mass were 10 under rainfed and 13 under well-watered conditions, while those of the gene pairs controlling the plant height at different development stages were 3-7 under rainfed and 4-14 under well-watered conditions, respectively. According to the clustering of the drought stress coefficient of plant height, the RIL could be classified into five subgroups, showing the abundant variation of the RIL in their phe- notypes and in the sensitivity to water condition. It was considered that the test RIL were appropriate for the study of the quantitative genetics of wheat drought resistance.

Aim: To study clinical features and gene mutations within the paired-like homeodomain transcription factor 2 (PITX2) gene in a pedigree of bilateral limbal dermoids., Methods: Complete eye examinations have been performed on each individual of the family. Exons of paired-like homeodomain transcription factor 2 (PITX2) were amplified by polymerase chain reaction, sequenced, and compared with a reference database., Results: We described the phenotype, clinic findings in a family with two affected members. The masses of the proband's eyes were excised surgically demonstrating a dermoid cyst by histopathological examination. No mutation was detected in the gene PITX2 in this pedigree., Conclusion: A family of limbal dermoid cyst was reported. In addition, no pathogenic sequence variations were found in PITX2, indicating that this phenotype in this family is a distinctive entity.

Objective: To investigate the mutation frequency in 7 mutation hot-spots of deafness gene in southern Jiangsu province and verify the performance of the SNaPshot technology platform, designed for genetic screening of non-syndromic hearing loss (NSHL) in Chinese., Methods: One hundred and twenty-five NSHL patients were enrolled. Amplification of 235delC, 299-300delAT in GJB2 gene, IVS7-2A>G, 2168 A>G in SLC26A4 gene, and 1555A>G, 7445 A>G and 3243 A>G in mitochondrial DNA (mtDNA) was performed using multiplex polymerase chain reaction (PCR) technology. Afterwards, the sequence-specific probe interrogated each locus and labeled it at the 3' end using fluorescent dideoxynucleotide chemistry by the SNaPshot Multiplex Kit, the resulting products were then separated electrophoretically in ABI PRISM R 3130 Genetic Analyzer and analyzed in the presence of a fifth-dye-labeled size standard. Finally, the genotyping results were verified by direct sequencing or PCR-restriction fragment length polymorphism (PCR-RFLP)., Results: (1) The total mutation frequency for the 7 mutation hot-spots was 53.6%. The mutation frequency of 235delC was 24.0%, 299-300delAT was 5.6% in the GJB2 gene, IVS7-2A>G was 15.2%, 2168A>G was 3.2% in the SLC26A4 gene. The mutation frequency of 1555A>G and 7445 A>G in mtDNA was 4.8% and 0.8% respectively. The mutation 3243 A>G was not detected. (2) The SNaPshot results were consistent with that from direct sequencing or PCR-RFLP, and the specificity and sensitivity of detection were 100%., Conclusion: (1) More than half of the patients with deafness in southern Jiangsu province carry the mutations of the seven hot-spots. (2) The genetic screening technology platform based on SNaPshot can detect 7 mutations in one reaction, and is efficient and suitable for clinical practice.

Objective: To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects., Method: MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound., Result: Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion., Conclusion: Three cases had 22q11 microdeletion in the congenital heart defects.

Background: Previous studies have identified that mutations in a few genes, including T-BOX5, NKX2-5, EVC and GATA4, are associated with atrial septal defect (ASD)., Methods: A family of three generations with 4 members who were affected with ASD was investigated. To exclude the presence of any sub-microscopic chromosomal imbalance, high-resolution 1M array-based comparative genomic hybridization (aCGH) was performed. SNaPShot was used to certify the specificity of the finding mutation in the other family members. The coding region of GATA4 and NKX2-5 genes was screened by sequencing in another 30 cases including 10 cases of ventricular septal defect (VSD), 10 cases of atrial septal defect (ASD), 8 cases of VSD combined with ASD and 2 cases of atrioventricular septal defects (AVSD)., Results: No pathogenic copy number variant was detected by aCGH in the four affected family members with ASD. A novel non-synonymous variant, c.839C>T (T280M) in GATA4, was identified and segregated with all the ASD patients within this Chinese family. Such mutation was absent in other family members or present among sporadic CHD patients. In addition, we identified a non-synonymous variant in the NKX2-5 gene (P257A) associated with one congenital heart disease patient with VSD. Both mutations were not identified among healthy controls., Conclusion: T280M mutation of GATA4 is suggested to be associated with ASD in this Chinese family., (2010 Elsevier B.V. All rights reserved.)

Objective: To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD)., Methods: Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR)., Results: The average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA)., Conclusion: The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.

Background: The DFNB1 locus, which contains the gap junction beta-2 (GJB2) and gap junction beta-6 (GJB6) genes, plays a key role in the nonsyndromic and sporadic hearing impairment. Mutations of DFNB1 result in autosomal recessive nonsyndromic hearing impairment (ARNSHI). Previous researches have identified mutations in GJB2 and GJB6, but single nucleotide polymorphisms (SNPs) of DFNB1 locus have not been studied. So we chose five SNPs to evaluate whether there is difference between deafness people and normal-hearing people in Han Chinese., Methods: Five SNPs in the DFNB1 region were examined using a case-control association study between cases with sporadic hearing impairment and controls with normal hearing. The HWEsoft and SHEsis softwares were used to analyze the results., Results: Single-locus association analysis showed a positive association for three SNPs: rs9315400, rs2274084 and 235delC. When we compared the distributions of the haplotypes, we also found significant differences between cases and controls in the haplotype combination of rs2274084 and rs2274083 (chi(2) = 12.978, df = 3, global P = 0.004719)., Conclusions: The haplotypes composed of rs2274084 and rs2274083 suggested that C-C may be a risk haplotype for the sporadic hearing impairment while T-T may be protective against hearing impairment. From that point of view, we can conclude that the SNPs of DFNB1 locus also plays an important role in sporadic hearing impairment cases.

Congenital contractural arachnodactyly (Beals syndrome) is a rare autosomal dominantly inherited connective tissue disorder characterized by flexion contractures, arachnodactyly, crumpled ears, and mild muscular hypoplasia. Here, a father and son with congenital contractural arachnodactyly features were identified. After sequencing 15 exons (22 to 36) of the FBN2 gene, a novel mutation (C1425Y) was found in exon 33. This de novo mutation presented first in the father and was transmitted to his son, but not in the other 14 unaffected family members and 365 normal people. The C1425Y mutation occurs at the 19th cbEGF domain. Cysteines in this cbEGF domain are rather conserved in species, from human down to ascidian. The cbEGF12-13 in human FBN1 was employed as the template to perform homology modeling of cbEGF18-19 of human FBN2 protein. The mutation has also been evaluated by further prediction tools, for example, SIFT, Blosum62, biochemical Yu's matrice, and UMD-Predictor tool. In all analysis, the mutation is predicted to be pathogenic. Thus, the structure destabilization by C1425Y might be the cause of the disorder.