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Twins with Duchenne muscular dystrophy (DMD) have been widely studied. We report the first rare case of monozygotic triplets with DMD who shared consistent phenotypes, including delayed motor and language milestones, muscle wasting and weakness, joint contracture, and lumbar lordosis. Muscle magnetic resonance imaging and biopsy revealed the similar muscle injury characteristics and dystrophin absence. Short tandem repeat analysis confirmed monozygosity. A de novo mutation (exon 49-52 deletion) was found in the triplets but not in their mother. Treatment included prednisone, idebenone, and rehabilitation management. At the 2-year follow-up, motor function had deteriorated, and muscle fatty infiltration was more extensive and severe. Our case offers a unique opportunity for genetic and therapeutic research. Furthermore, it highlights the critical role of genetic factors in DMD phenotypes and provides a potential choice for treatment observations.

The inhibition of α-glucosidase and glycation is closely related to the treatment of type 2 diabetes mellitus (DM) and its complications. In this study, quercetin-3-O-glucuronide (Q3GA) showed reversible and mixed-mode inhibition of α-glucosidase activity, with an IC50 value of 108.11 ± 4.61 μM. This was mainly due to the spontaneous formation of Q3GA-α-glucosidase driven by hydrogen bonding and van der Waals forces, which could change the microenvironments and conformation of α-glucosidase. In addition, Q3GA showed strong suppression of the formation of glycation products, including fructosamine, advanced glycation end products (AGEs), and 5-hydroxymethylfurfural (5-HMF). Molecular docking analysis demonstrated that Q3GA entered the hydrophobic pocket of ovalbumin to form six hydrogen bonds with amino acid residues, which affected the glycation process. These findings indicate that Q3GA is an excellent inhibitor of α-glucosidase and glycation, and promote its development as a drug or dietary supplement for DM.

Due to the challenge of increasing data volume, the traditional trust model is unable to manage data with high efficiency and effectively extract useful information hidden in big data. To fully utilize big data and combine machine learning with trust evaluation, a trust evaluation model based on Long short-term memory (LSTM) is presented. The powerful learning ability, expressive ability and dynamic timing of LSTM can be applied to study data while avoiding the vanishing and exploding gradient phenomena of traditional Recurrent neural networks (RNNs) to ensure that the model can learn sequences of random length and provide accurate trust evaluation. Targeting the performance instability caused by the LSTM model's random initialization of weights and thresholds, Particle swarm optimization (PSO), one of the intelligent algorithms, is introduced to find global optimal initial weights and thresholds. Experiments proved that the trust model proposed in this paper has high accuracy and contributes a new idea for trust evaluation in big data environments.

This study aimed to investigate the antiglycation capacity of Sargassum pallidum extract on ovalbumin (OVA) glycation, and the interaction mechanism of its active compounds, including 6-gingerol (6G) and poricoic acid A (PA). The results showed that Sargassum pallidum extract, PA and 6G had excellent suppression on the formation of fructosamine, 5-hydroxymethylfurfural (5-HMF), acrylamide and advanced glycation end products (AGEs), which was higher than aminoguanidine (AG). The combination of PA and 6G showed good synergistic effect on inhibiting the formation of AGEs. PA exhibited the strongest inhibition activity for protein glycation products, and the content of 5-HMF and acrylamide decreased from 277.44 and 10.60 μg mL-1 to 208.37 and 5.46 μg mL-1, respectively, at 30.08 × 10-5 M compared with the control group. 6G and PA quenched the fluorescence of OVA with a static mechanism, and enhanced the hydrophilic microenvironment of the tyrosine (Tyr) and tryptophan (Trp) residues. The binding of 6G and PA with OVA was spontaneous and driven by hydrogen bonds and van der Waals interactions. Molecular docking indicated that 6G and PA entered the hydrophobic cavity of OVA, and formed hydrogen bonds with Ser103, Leu101 and Thr 91. These findings suggested that Sargassum pallidum extract, PA and 6G have great potential as antiglycation inhibitors to treat diabetes complications in healthy food.

Whey protein isolate (WPI) is an excellent source of emulsifier, but its function is limited for oxidative unstable in emulsion. In this study, WPI was glycated with Rosa roxburghii Tratt fruit polysaccharides (RTFP) by Maillard reaction under optimum conditions. The sodium dodecyl sulfate-polyacrylamide gel electrophoresis profile confirmed the formation of WPI-RTFP conjugates. The intrinsic fluorescence spectrum, CD and FT-IR indicated that the structure of WPI was affected after glycated with RTFP. In addition, the antioxidant activity of WPI-RTFP conjugates and WPI-RTFP emulsion were 3.5-fold and 1.5-fold stronger than that of WPI and WPI emulsion, respectively. Furthermore, the emulsion coated by conjugates demonstrated better oxidative stability than WPI with less peroxides produced after accelerated oxidation for 7 days. The results lay good foundation for the modification of protein by natural bioactive polysaccharides as well as for the application in healthy foods.

Autosomal-dominant hypocalcification amelogenesis imperfecta (ADHCAI) is a hereditary disease characterized by enamel defects. ADHCAI is mainly caused by nonsense mutations in a gene called family with sequence similarity 83 member H (FAM83H). To study the pathogenesis of ADHCAI, a Chinese ADHCAI family was investigated. The ultrastructure of enamel was analyzed by micro-CT and scanning electron microscopy. Whole-exome sequencing (WES) was performed to identify the pathogenic gene. The function of the mutant FAM83H was studied by real-time PCR, western blotting, subcellular localization, and protein degradation pathway analyses. WES identified a known nonsense mutation (c.1915A > T) in exon 5 of the FAM83H gene, causing a truncated protein (p.Lys639*). However, the cases reported herein exhibited significant differences in the clinical phenotype compared with that the previously reported case. An abnormal enamel rod head structure was observed in affected teeth. In vitro functional studies showed altered protein localization and a decreased protein degradation rate for mutant FAM83H. We verified the FAM83H p.Lys639* protein as a gain-of-function variant causing ADHCAI. Abnormal enamel rod head structure was observed in teeth with mutant FAM83H proteins. We also investigated the molecular pathogenesis and presented data on the abnormal degradation of mutant FAM83H proteins. This study helped the family members to understand the disease progression and provided new insights into the pathogenesis of ADHCAI. Due to the large heterogeneity of ADHCAI, this study also provided a genetic basis for individuals who exhibit similar clinical phenotypes.

Ashes from excess sludge incineration plants contain a high content of phosphorous (P). Taking H2SO4 as an extraction agent, this study investigated the P recovery potential of sludge incinerated b...

This study proposes a design for a wearable guide device for blind or visually impaired persons on the basis of video streaming and deep learning. This work mainly aims to provide supplementary assistance to white canes used by visually impaired persons and offer them increased freedom of movement and independence using the proposed wearable device. The considerable amount of environmental information provided by the device also ensures enhanced safety for its users. Computer vision in the proposed device uses an RGB camera instead of the RGBD camera commonly used in computer vision. Deep learning is applied to convert RGB images into depth images and calculate the plane for detecting indoor objects and safe walking routes. A convolutional neural network (CNN) is adopted, and its neural network structure, which is similar to that of the human brain, simulates a neural transmission mechanism similar to that triggered in human learning. Therefore, this system can learn a large number of feature routes and then generate a model from the learning result. The proposed system can help blind or visually impaired persons identify flat and safe walking routes.

Inflammation-modulating nutrients and inflammatory markers are established cancer risk factors, however, evidence regarding the association between post-diagnosis diet-associated inflammation and breast cancer survival is relatively sparse. We aimed to examine the association between post-diagnosis dietary inflammatory index (DII®) and risks of all-cause and breast cancer-specific mortality. A total of 1064 female breast cancer survivors in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening (PLCO) Trial prospective cohort, were included in this analysis if they had completed the diet history questionnaire (DHQ). Energy-adjusted DII (E-DIITM) scores were calculated based on food and supplement intake. Cox regression and competing risk models were used to estimate multivariable-adjusted hazards ratios (HRs) and 95% confidence intervals (95% CIs) by E-DII tertile (T) for all-cause and breast cancer-specific mortality. With median follow-up of 14.6 years, there were 296 (27.8%) deaths from all causes and 100 (9.4%) breast cancer-specific death. The E-DII was associated with all-cause mortality (HR T3 vs T1, 1.34; 95% CI, 1.01–1.81; Ptrend, 0.049, Table 2) and breast cancer mortality (HR T3 vs T1, 1.47; 95% CI, 0.89–2.43; Ptrend, 0.13; multivariable-adjusted HR for 1-unit increment: 1.10; 95% CI: 1.00–1.22). Non-linear positive dose–response associations with mortality from all causes were identified for E-DII scores (Pnon-linearity

Liver transplantation has been widely accepted as an effective intervention for end-stage liver diseases and early hepatocellular carcinomas. However, a variety of postoperative complications and adverse reactions have baffled medical staff and patients. Currently, transplantation monitoring relies primarily on nonspecific biochemical tests, whereas diagnosis of multiple complications depends on invasive pathological examination. Therefore, a noninvasive monitoring method with high selectivity and specificity is desperately needed. This review summarized the potential of endogenous small-molecule metabolites as biomarkers for assessing graft function, ischemia-reperfusion injury and liver rejection. Exogenous metabolites, mainly those immunosuppressive agents with high intra- and inter-individual variability, were also discussed for transplantation monitoring.

Amorphous Sm–Co films with uniaxial in-plane anisotropy have great potential for application in information-storage media and spintronic materials. The most effective method to produce uniaxial in-plane anisotropy is to apply an in-plane magnetic field during deposition. However, this method inevitably requires more complex equipment. Here, we report a new way to produce uniaxial in-plane anisotropy by growing amorphous Sm–Co films onto (011)-cut single-crystal substrates in the absence of an external magnetic field. The tunable anisotropy constant, kA, is demonstrated with variation in the lattice parameter of the substrates. A kA value as high as about 3.3 × 104 J·m−3 was obtained in the amorphous Sm–Co film grown on a LaAlO3(011) substrate. Detailed analysis indicated that the preferential seeding and growth of ferromagnetic (FM) domains caused by the anisotropic strain of the substrates, along with the formed Sm–Co, Co–Co directional pair ordering, exert a substantial effect. This work provides a new way to obtain in-plane anisotropy in amorphous Sm–Co films. Keywords: Amorphous Sm–Co films, In-plane uniaxial anisotropy, Sputtering

AimsSubarachnoid hemorrhage (SAH) is a devastating stroke subtype. Following SAH, erythrocyte lysis contributes to cell death and brain injuries. Blockage of the anti-phagocytic receptor Cluster of Differentiation 47 (CD47) enhances phagocyte clearance of erythrocytes, though it has not been well-studied post-SAH. The current study aims to determine whether anti-CD47 treatment can enhance blood clearance after experimental SAH.MethodsThe prechiasmatic blood injection model of SAH was used in mice. Mice were either treated with the CD47-blocking antibody or IgG as control. The effect of the anti-CD47 antibody on blood clearance and neurological function following SAH was determined. Neuroinflammation and neuronal injury were compared between the treatment and control samples on day 1 and day 7 after SAH using flow cytometry, immunofluorescence, Fluoro-Jade C, and Nissl staining, RT-PCR, and Western blot analysis.ResultsCD47-blocking antibody sped-up blood clearance after SAH, and resulted in less neuronal injury and neurological deficits than control samples. Microglia played a role in the anti-CD47 blockade. Following SAH Following SAH, CD47 antibody-treated mice had less neuroinflammation and lower levels of apoptosis compared to controls and both one and 7 days.ConclusionsCD47 antibody treatment has a neuroprotective effect following SAH, by increasing blood clearance rate and reducing brain injury. These findings suggest CD47 antibody treatment may improve SAH patient outcomes.

KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia.Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known).We identified a novel de novo missense mutation (c.911 T A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1.Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia.This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia.

To investigate the change of tumor feeding artery diameter and the efficacy of metastasis inhibition after transarterial chemoembolization (TACE) combined with apatinib or TACE monotherapy for patients with advanced hepatocellular carcinoma who without metastasis.A total of 616 consecutive patients who received the treatment of TACE-apatinib or TACE in our center was enrolled. Propensity score matching (PSM) analysis was used to reduce bias. The overall survival (OS), OS-after-metastasis (OSM), time to progression (TTP), time to metastasis (TTM), time to vessel or organ metastasis (TVOM), time to lymph node metastasis, and tumor feeding artery diameter between the two treatment groups were compared.A total of 113 pairs of patients were eligible after the PSM. Time to lymph node metastasis between the two groups was not significantly different (P 0.05). The tumor feeding artery diameter was significantly smaller after TACE-apatinib management (P 0.001). Median OS (P 0.001) and OSM (P 0.001) were significantly longer in the TACE-apatinib group compared with the TACE group. Median TTP (P 0.001), TTM (P 0.001), and TVOM (P 0.001) were significantly prolonged in TACE-apatinib group.TACE-apatinib treatment could improve the prognosis compared with TACE alone, and inhibit metastasis after TACE procedure with contracted tumor feeding artery for advanced HCCs without metastasis.

To investigate the mechanism and efficacy of transarterial viroembolization (TAVE) with an oncolytic virus (OH2) for the treatment of liver cancer in rabbit VX2 tumor models.Subcutaneous tumor and liver cancer models were established to determine the optimal viral titer and administration modality of OH2. Different liver cancer models were established to evaluate the locoregional tumor response, synergistic and standby effects, survival benefit, and specific antitumor immune memory after TAVE treatment. The immune cell densities in tumor tissues were measured.The optimal viral titer of OH2 was 1 × 10TAVE was the optimal and a safe modality for treating immune-excluded liver cancer, and its synergistic effect achieved a remarkable tumor response, standby effect, survival benefit, and antitumor immune memory, which providing an innovative therapeutic modality for clinical practice.Data is available from the corresponding author upon requirement.

OBJECTIVES The aim is to evaluate the efficacy and complications of percutaneous transluminal angioplasty (PTA)/stenting in the treatment of transplant renal artery stenosis (TRAS). BACKGROUND TRAS is a relatively rare condition, and currently, there is not enough study about interventional therapy for TRAS. METHODS Between April 2011 and July 2018, 33 patients with TRAS underwent interventional therapy. Analysis of parameters was as follows: technical success, pretreatment and posttreatment serum creatinine, and blood pressure, and vessel patency via ultrasound at 1, 6, and 12 months posttreatment and once a year thereafter. RESULTS One procedure failed. The success rate of PTA/stenting placement was 97.0%. Fourteen PTAs with 16 stents were primary interventions, with 2 stent procedures performed subsequently due to restenosis; the restenosis rate was 6.3%. During the follow-up period, two patients progressed to graft renal failure and three patients were lost to follow-up. The rest of the patients still had stable graft function and blood pressure. Compared with preoperative conditions, blood pressure and serum creatinine significantly decreased (p

Bulbophyllum versicolor Z.Zhou, P.Y.Wu & Z.J.Liu, sp. nov. (��ffl���������; Figs 2, 3) Type:��� China, Malipo, Yunnan, epiphytic on branches in forests, 1300 m, 12 Oct 2017, cultivated and flowered in Wenzhou, 30 Sep 2020, Zhou 2020103001 (holotype: ZM!). This new species is similar to B. japonicum, but it differs by its leaf size (3.0���6.0 vs. 3.0��� 4.5 cm long), inflorescence shape (raceme 4.0��� 6.5cm long, densely 5���14 flowered vs. umbel 2���3 cm long, 2���4 flowered), flower colour (whitish green or pale yellowish green, base purplish red vs. purplish red) and lip size (5.5���6.0 vs. 2.0 mm long). Epiphytic herbs with a creeping rhizome. Pseudobulbs erect, 4.5���19.0 mm apart, cylindric or narrowly fusiform, 5.0���11.0 mm long, 2.5���4.5 mm in diam., green or yellowish green, slightly angular with longitudinal furrows during dry seasons, with a terminal leaf. Leaves lanceolate, 30���60 �� 3���5 mm, apex acute, base tapered to terete petiole, entire. Scape from base of pseudobulb, erect, 4.0��� 6.5 cm, slender; racemose 5���14 flowered; peduncle 1.0��� 1.5 mm in diam., with 2 tubular sheaths 5 mm; floral bracts lanceolate, ca. 3 mm. Pedicel and ovary ca. 5 mm. Flowers apex whitish green or pale yellowish green, base purplish red. Dorsal sepal oblong, ca. 3 �� 1 mm, pale purple, apex acute, apex dark purple, margin sometimes with denticles, triveined. Lateral sepals obliquely lanceolate, 2.5 cm, twisted near base, with their upper and lower edges often loosely connivent to each other, apex acuminate. Petals semiovate or ovate obliquely, 2.2���3.0 �� 1.5 mm, pale purple, apex obtuse, with purplish red spots, triveined, margin entire. Lip recurved, ligulatelanceolate, with finely papillate, 5.5���6.0 �� 2.0��� 2.5 mm, reddish maroon, grooved at base, apex obtuse, attached to end of column foot by a mobile joint. Column quadrangular with tapering base, ca. 4.0 mm long; column foot hookedincurved, ca. 3.5 mm long, reddish maroon to purplish red. Anther cap hemispherical, pale yellow. Pollinia 4, 2 in each pair. Phenology:��� Flowering July���August. Etymology:��� Refering to a variety of flower colours. Distribution and habitat:��� So far only known from the type locality where it is epiphytic on trees at 1300 m in evergreen, broad-leaved forests. Conservation status:��� So far, four populations have been discovered. The number of mature individuals in each population is ten plants. The extent of suitable habitat is continuing to decline due to tree felling and land reclamation. According to the World Conservation Union Red List Categories and Criteria version 3.1 (IUCN, 2001), we suggest that the unofficial conservation status of this new species should be CR (critically endangered)., Published as part of Zhou, Zhuang, Wu, Peng-Yu, Lin, Ya-Jun, Zhao, Zhuang, Fu, Xiong-De Tu Shuang-Bin, Ying, Zhen & Liu, Zhong-Jian, 2021, Bulbophyllum versicolor (Orchidaceae, Malaxideae), a new species from Yunnan, China: evidence from morphology and molecular analyses, pp. 247-254 in Phytotaxa 528 (4) on page 251, DOI: 10.11646/phytotaxa.528.4.3, http://zenodo.org/record/5794910, {"references":["IUCN. (2001) IUCN Red List Categories and Criteria: Version 3.1. Gland: IUCN Species Survival Commission."]}

Zhou, Zhuang, Wu, Peng-Yu, Lin, Ya-Jun, Zhao, Zhuang, Fu, Xiong-De Tu Shuang-Bin, Ying, Zhen, Liu, Zhong-Jian (2021): Bulbophyllum versicolor (Orchidaceae, Malaxideae), a new species from Yunnan, China: evidence from morphology and molecular analyses. Phytotaxa 528 (4): 247-254, DOI: 10.11646/phytotaxa.528.4.3

Hypertriglyceridemia is an important contributor to atherosclerotic cardiovascular disease (ASCVD) and acute pancreatitis. Familial hypertriglyceridemia is often caused by mutations in genes involved in triglyceride metabolism. Here, we investigated the disease-causing gene mutations in a Chinese family with hypertriglyceridemia and assessed the functional significance in vitro. Whole-exome sequencing (WES) was performed revealing that the severe hypertriglyceridemic proband carried a missense mutation (c.590G > A) in exon 5 of the LPL gene, as well as a missense mutation (c.1523C > T) in exon 10 of the LMF1 gene. Conservation analysis by Polyphen-2 showed that the 508 locus in the LMF1 protein and 197 locus in the LPL protein were highly conserved between different species. I-TASSER analysis indicated that the LMF1 c.1523C > T mutation and the LPL c.590G > A mutation changed the tertiary structure of the protein. A decrease in mRNA and protein expression was observed in 293T cells transfected with plasmids carrying the LMF1 c.1523C > T mutation. Subcellular localization showed that both wild-type (WT) and mutant LMF1 protein were localized at the cell cytoplasm. In the cell medium and cell lysates, these LMF1 and LPL gene mutations both caused a decreased LPL mass. Moreover, the combination of LMF1 and LPL gene mutations significantly decreased LPL levels compared to their individual effects on the LPL concentration. Both the clinical and in vitro data suggest that severe hypertriglyceridemia was of digenic origin caused by LMF1 and LPL mutation double heterozygosity in this patient.

This study aimed to investigate the antiglycation capacity of