Search

Abstract Background There are discrepancies in the understanding of the structure of the capsuloligamentous complex of the first metatarsophalangeal joint (MTPJ); this study aims to investigate the differences with previous anatomical reports of high-resolution 3T magnetic resonance imaging (MRI) and histological analysis in illustrating the structure of the capsuloligamentous complex of the first MTPJ. Methods Nine fresh frozen cadaveric feet specimens (from two women and three men; aged 32 to 58 years) were used in this study. All specimens underwent MR examination with T1-weighted imaging and T2-weighted spectral attenuated inversion recovery in three planes. Subsequently, all cadaveric feet specimens were sliced into 2-mm-thick sections. The MRI features of the capsuloligamentous complex of the first MTPJ were analyzed in these specimens. Hematoxylin–eosin and Masson’s trichrome staining methods were used to explore the histologic features of the capsuloligamentous complex of the first MTPJ. Results Different from most previous studies, our results showed that the plantar plate could be divided into four portions including the central portion of the plantar plate, the intersesamoid, the sesamoid phalangeal and the metatarsosesamoid ligaments. The normal central portion of the plantar plate could be clearly visualized in the sagittal and coronal plane MR images. The intersesamoid ligament is a continuation of the central portion of the plantar plate on the sagittal plane on the gross specimen, the MR imaging, and the histological examination. On the coronal plane of the gross specimen and MR imaging, the sesamoid phalangeal ligaments and the central portion of the plantar plate can be seen as separate ligaments, but they appeared interwoven with the same continuous collagenous fibers on the histological analysis. Conclusion High-resolution 3T MRI allows accurate demonstration of the different anatomical details of the capsuloligamentous complex of the first MTPJ from previous anatomical reports. The histological analysis provides further understanding of the structures of the capsuloligamentous complex of the first MTPJ from previous studies.

Background: Hand injuries are very common in sports, such as skiing and ball sports. One of the major reasons causing hand and finger deformity is due to ligament and tendon injury. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) can demonstrate the complex anatomy of the fingers and thumb, especially the tendons and ligaments, and provide the accurate diagnosis of clinically important fingers and thumbs deformity due to ligamentous and tendinous injuries during sport activities. Methods: Sixteen fresh un-embalmed cadaveric hands were harvested from eight cadavers. A total of 20 healthy volunteers' hands and 44 patients with fingers or thumb deformity due to sports-related injuries were included in this study. All subjects had MR examination with T1-weighted images and proton density-weighted imaging with fat suppression (PD FS) in axial, coronal, and sagittal plane, respectively. Subsequently, all 16 cadaveric hands were sliced into 2-mm thick slab with a band saw (six in coronal plane, six in sagittal plane, and four in axial plane). The correlation of anatomic sections and the MRI characteristics of tendons of fingers and the ulnar collateral ligament (UCL) at the metacarpal phalangeal joint (MCPJ) of thumb between 20 healthy volunteers and 44 patients (confirmed by surgery) were analyzed. Results: The normal ligaments and tendons in 16 cadaveric hands and 20 volunteers' hands showed uniform low-signal intensity on all the sequences of the MRI. Among 44 patients with tendinous and ligamentous injuries in the fingers or thumb, 12 cases with UCL injury at MCPJ of the thumb (Stener lesion = 8 and non-Stener lesion = 4), 6 cases with the central slip injury, 12 cases with terminal tendon injury, and 14 cases with flexor digitorum profundus injury. The ligaments and tendons disruption manifested as increased signal intensity and poor definition, discontinuity, and heterogeneous signal intensity of the involved ligaments and tendons. Conclusions: Sports injury-related fingers and thumb deformity are relatively common. MRI is an accurate method for evaluation of the anatomy and pathologic conditions of the fingers and thumb. It is a useful tool for accurate diagnosis of the sports-related ligaments and tendons injuries in hand.

Background: The injury of the triangular fibrocartilage complex (TFCC) is a common cause of ulnar-sided wrist pain. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) could demonstrate the detailed complex anatomy of TFCC in Chinese. Methods: Fourteen Chinese cadaveric wrists (from four men and three women; age range at death from 30 to 60 years; mean age at 46 years) and forty healthy Chinese wrists (from 20 healthy volunteers, male/female: 10/10; age range from 21 to 53 years with a mean age of 32 years) in Beijing Jishuitan Hospital from March 2014 to March 2016 were included in this study. All cadavers and volunteers had magnetic resonance (MR) examination of the wrist with coronal T1-weighted and proton density-weighted imaging with fat suppression in three planes, respectively. MR arthrography (MRAr) was performed on one of the cadaveric wrists. Subsequently, all 14 cadaveric wrists were sliced into 2 mm thick slab with band saw (six in coronal plane, four in sagittal plane, and four in axial plane). The MRI features of normal TFCC were analyzed in these specimens and forty healthy wrists. Results: Triangular fibrocartilage, the ulnar collateral ligament, and the meniscal homolog could be best observed on images in coronal plane. The palmar and dorsal radioulnar ligaments were best evaluated in transverse plane. The ulnotriquetral and ulnolunate ligaments were best visualized in sagittal plane. The latter two structures and the volar and dorsal capsules were better demonstrated on MRAr. Conclusion: High-resolution 3T MRI is capable to show the detailed complex anatomy of the TFCC and can provide valuable information for the clinical diagnosis in Chinese.

Abstract Objectives The pathogen of Pantoea stewartii (Ps) is the causal agent of bacterial disease in corn and various graminaceous plants. Ps has two subspecies, Pantoea stewartii subsp. stewartia (Pss) and Pantoea stewartii subsp. indologenes (Psi). This study presents two complete genomes of Ps strains including ATCC 8199 isolated from maize and PSCN1 causing bacterial wilt in sugarcane. The two bacterial genomes information will be helpful for taxonomy analysis in this genus Pantoea at whole-genome levels and accurately discriminated the two subspecies of Pss and Psi. Data description The reference strain ATCC 8199 isolated from maize was purchased from Beijing Biobw Biotechnology Co., Ltd. (China) and the strain of PSCN1 was isolated from sugarcane cultivar YZ08-1095 in Zhanjiang, Guangdong province of China. Two complete genomes were sequenced using Illumina Hiseq (second-generation) and Oxford Nanopore (third-generation) platforms. The genome of the strain ATCC 8199 comprised of 4.78 Mb with an average GC content of 54.03%, along with five plasmids, encoding a total of 4,846 gene with an average gene length of 827 bp. The genome of PSCN1 comprised of 5.03 Mb with an average GC content of 53.78%, along with two plasmids, encoding a total of 4,725 gene with an average gene length of 913 bp. The bacterial pan-genome analysis highlighted the strain ATCC 8199 was clustered into a subgroup with a Pss strain CCUG 26,359 from USA, while the strain PSCN1 was clustered into another subgroup with a Ps strain NRRLB-133 from USA. These findings will serve as a useful resource for further analyses of the evolution of Ps strains and corresponding disease epidemiology worldwide.

Objectives This study aimed to analyze the safety, efficacy, and application prospects of ultrasound-guided microwave ablation (MWA) in the treatment of primary hyperthyroidism.Methods Eight patients with primary hyperthyroidism who underwent ultrasound-guided glandular volume reduction between January 2021 and December 2022 were included in this study. Pre- and postablative examinations, including grayscale ultrasound, contrast-enhanced ultrasound (CEUS), laboratory examination, antithyroid drug (ATD) dosage, and quality of life (QoL) assessment via Thyroid-Specific Patient-Reported Outcome Short-Form (ThyPRO-39), were analyzed retrospectively. The main ultrasound follow-up times were 1, 3, 6, and 12 months after ablation. Thyroid function was reviewed 1 week after ablation, and the subsequent reexamination time was determined according to the patient’s specific test results and ATD adjustment. The final efficacy was comprehensively analyzed according to the patient’s medication status, thyroid function, thyroid volume, and QoL score.Results All 8 patients successfully received MWA for primary hyperthyroidism, and none of them experienced serious complications. By the end of the follow-up, 5 of the 8 patients had stopped taking ATDs, 3 of the 8 patients had reduced ATD dosages, and all of them maintained stable thyroid function. Although descriptive analysis was performed because of the small sample size, patients’ thyroid volume reduction, and obvious improvements in goiter symptoms, hyperthyroid symptoms, anxiety, etc., were observed during our follow-up.Conclusion Ultrasound-guided MWA for reducing thyroid gland volume in primary hyperthyroidism patients is a new, safe, and effective minimally invasive treatment method that is a good choice for patients who cannot or refuse traditional treatment methods.

Abstract Objective To investigate whether intrauterine chilled saline can reduce endometrial impairment during US-guided percutaneous microwave ablation (PMWA) of adenomyosis. Methods An open-label, randomized trial was conducted with sixty symptomatic adenomyosis patients who were randomly assigned (1:1) to receive PMWA treatment assisted by intrauterine saline instillation (study group) or traditional PMWA treatment alone (control group). The primary endpoint was endometrial perfusion impairment grade on post-ablation contrast-enhanced MRI. The secondary endpoints were endometrial dehydration grade, ablation rate, and intra-ablation discomfort. Results The baseline characteristics of the two groups were similar. The incidence rates of endometrial perfusion impairment on MRI in the study and control groups were 6.7% (2/30) and 46.7% (14/30), respectively (p

Hinge joints in hollow slabs play a pivotal role in achieving effective lateral force coordination within structural systems. The detrimental impact of hinge joint damage on the overall load-bearing performance of bridges cannot be understated. In this study, a 23 × 16 m span hollow slab bridge was selected as the engineering background, and a rigorous load test methodology was employed to assess the condition of the hinge joints by analyzing the lateral load distribution coefficient. The evaluation analysis revealed a substantial deviation from the theoretical value of 1, with measured lateral load distribution coefficients ranging from 0.013 to 1.659 before reinforcement, indicating poor lateral connection, severe hinge joint degradation, and inadequate overall lateral stiffness of the bridge. To address these issues and enhance the overall lateral load-bearing capacity of the hollow slab beams, a novel hinge joint reinforcement method utilizing steel strip–tie rod clamping is proposed. The efficacy of this method was validated by comparing the measured lateral load distribution coefficients before and after reinforcement with the corresponding theoretical values. Numerical comparison and meticulous analysis demonstrated a promising improvement, with post-reinforcement ratios of the measured lateral load distribution coefficients ranging from 0.950 to 1.122, closely approaching the theoretical value of 1. These findings unequivocally illustrate the significant enhancement achieved in the lateral force coordination performance of the slab beams, thereby affirming the positive reinforcement effect.

AbstractObjective To investigate the factors affecting the efficacy of ultrasound (US)-guided percutaneous microwave ablation (PMWA) for adenomyosis with abnormal uterine bleeding (AUB-A).Methods Baseline data of patients with AUB-A who underwent US-guided PMWA treatment between October 2020 and October 2021, including demography characteristics, laboratory and imaging examination results were retrospectively analyzed. 3D reconstruction of magnetic resonance imaging (MRI) was applied to quantitatively assess the local treatment responses, including ratio of non-perfusion volume to adenomyosis volume (NPVr), ablation rate of the endometrial-myometrial junction (EMJ), and surface area (SA) of the ablated part of the EMJ. Patients were followed up at 3, 6, and 12 months after treatment, and divided into two groups: group with complete relief (CR), and group with partial relief (PR) or no relief (NR). Data were compared between them.Results Thirty-one patients were analyzed with a mean age of 38.7 ± 6.8 years (range: 24–48): 48.4% (15/31), 63.3% (19/30), and 65.5% (19/29) achieved CR at 3, 6, and 12 months, respectively. In univariate analysis, compared with the PR/NR group, serum CA125 levels were significantly lower in CR group at 3 months, while ablation rates of EMJ and SA of the ablated part of the EMJ were significantly higher at the three time points. Other baseline characteristics and NPVr did not differ between the two groups.Conclusion Baseline CA125 and ablation rate of the EMJ and SA of the ablated part of the EMJ are associated with the outcome of AUB-A patients after US-guided PMWA treatment.

Auxin response factor (ARF) is a critical regulator in the auxin signaling pathway, involved in a variety of plant biological processes. Here, gene members of 24 SpapARFs and 39 SpnpARFs were identified in two genomes of Saccharum spontaneum clones AP85-441 and Np-X, respectively. Phylogenetic analysis showed that all ARF genes were clustered into four clades, which is identical to those ARF genes in maize (Zea mays) and sorghum (Sorghum bicolor). The gene structure and domain composition of this ARF family are conserved to a large degree across plant species. The SpapARF and SpnpARF genes were unevenly distributed on chromosomes 1–8 and 1–10 in the two genomes of AP85-441 and Np-X, respectively. Segmental duplication events may also contribute to this gene family expansion in S. spontaneum. The post-transcriptional regulation of ARF genes likely involves sugarcane against various stressors through a miRNA-medicated pathway. Expression levels of six representative ShARF genes were analyzed by qRT-PCR assays on two sugarcane cultivars [LCP85-384 (resistant to leaf scald) and ROC20 (susceptible to leaf scald)] triggered by Acidovorax avenae subsp. avenae (Aaa) and Xanthomonas albilineans (Xa) infections and salicylic acid (SA) treatment. ShARF04 functioned as a positive regulator under Xa and Aaa stress, whereas it was a negative regulator under SA treatment. ShARF07/17 genes played positive roles against both pathogenic bacteria and SA stresses. Additionally, ShARF22 was negatively modulated by Xa and Aaa stimuli in both cultivars, particularly LCP85-384. These findings imply that sugarcane ARFs exhibit functional redundancy and divergence against stressful conditions. This work lays the foundation for further research on ARF gene functions in sugarcane against diverse environmental stressors.

Plants must adapt to the complex effects of several stressors brought on by global warming, which may result in interaction and superposition effects between diverse stressors. Few reports are available on how drought stress affects Xanthomonas albilineans (Xa) infection in sugarcane (Saccharum spp. hybrids). Drought and leaf scald resistance were identified on 16 sugarcane cultivars using Xa inoculation and soil drought treatments, respectively. Subsequently, four cultivars contrasting to drought and leaf scald resistance were used to explore the mechanisms of drought affecting Xa–sugarcane interaction. Drought stress significantly increased the occurrence of leaf scald and Xa populations in susceptible cultivars but had no obvious effect on resistant cultivars. The ROS bursting and scavenging system was significantly activated in sugarcane in the process of Xa infection, particularly in the resistant cultivars. Compared with Xa infection alone, defense response via the ROS generating and scavenging system was obviously weakened in sugarcane (especially in susceptible cultivars) under Xa infection plus drought stress. Collectively, ROS might play a crucial role involving sugarcane defense against combined effects of Xa infection and drought stress.

ABSTRACT The mycobiome is an essential constituent of the human microbiome and is associated with various diseases. However, the role of oral and gut fungi in hypertension (HTN) remains largely unexplored. In this study, saliva, subgingival plaques, and feces were collected from 36 participants with HTN and 24 healthy controls for metagenomic sequencing. The obtained sequences were analyzed using the Kraken2 taxonomic annotation pipeline to assess fungal composition and diversity. Correlations between oral and gut fungi and clinic parameters, between fungi within the same sample types, and between different sample types were identified by Spearman’s correlation analysis. Overall, the subgingival fungal microbiome had substantially higher alpha diversity than the salivary and fecal fungal microbiomes. The fungal microbiomes of the three sample types displayed distinct beta diversity from each other. Oral fungi but not gut fungi in HTN had beta diversity significantly different from that of controls. Among the fungi shared in the oral cavity and gut, Exophiala was the genus with the most notable changes. Exophiala spinifera was the most abundant salivary species in HTN. Some fungal species directly correlated with blood pressure, including gut Exophiala xenobiotica and Exophiala mesophila. The markedly impaired ecological cocorrelation networks of oral and gut fungi in HTN suggested compromised association among fungal species. Most fungi were shared in the oral cavity and gut, and their correlations suggested the potential interplays between oral and gut fungi. In conclusion, the oral cavity and intestine have unique fungal ecological environments. The fungal enrichment and ecology in HTN, the correlations between oral and gut fungi, and the associations between oral and gut fungi and clinical parameters suggest an important role that the fungal microbiome may play in HTN. IMPORTANCE Our study fills the gap in human studies investigating the oral and gut fungal microbiota in association with blood pressure. It characterizes the diversity and composition of the oral and gut fungal microbiome in human subjects, elucidates the dysbiosis of fungal ecology in a hypertensive population, and establishes oral-gut fungal correlations and fungus-clinical parameter correlations. Targeting fungi in the oral cavity and/or gut may provide novel strategies for the prevention and treatment of hypertension.

Abstract Aims Patients with heart failure (HF) are typically designated as having reduced, mid‐range, or preserved ejection fraction (EF) (HFrEF, HFmrEF, or HFpEF, respectively) because of the importance of left ventricular EF (LVEF) on therapeutic decisions and prognosis. However, such designations are not necessarily static, as there are many transitions among the three HF phenotypes during follow‐up. This prospective longitudinal cohort study sought to examine the HF transitions over time and their clinical characteristics, prognosis, and response to medical therapy. Methods and results We identified 1920 patients from a prospective cohort with a primary diagnosis of HF between 1 January 2007 and 31 December 2012. The enrolled HF patients were re‐classified into three groups on the basis of baseline and 1 year follow‐up echocardiography: HF with improved EF (HFiEF), HF with deteriorated EF (HFdEF), and HF with unchanged EF (HFuEF). The primary outcome was 5 year all‐cause mortality. According to 1 year follow‐up echocardiography, 490 (25.5%) were diagnosed as HFiEF, 179 (9.3%) as HFdEF, and 1251 (65.2%) as HFuEF. Ischaemic heart disease was an independent predictor of HFdEF, and beta‐blocker prescription was an independent predictor of HFiEF. During the 5 year follow‐up, patients with HFdEF had higher mortality, whereas patients with HFiEF had lower mortality. After adjustment, HFiEF, compared with HFuEF, was associated with a 62.1% decreased risk for mortality. Finally, the use of beta‐blockers was associated with improved prognosis of patients with HFiEF and HFuEF. Conclusions In this cohort of patients with HF, LVEF is a dynamic factor related to coexisting conditions and drug therapy. HFiEF and HFdEF are distinct HF phenotypes with different clinical outcomes than other phenotypes.

Abstract Background Abnormal High-density Lipoprotein Cholesterol Concentration is closely related to postoperative acute kidney injury (AKI) after cardiac surgeries. The purpose of this study was to analyze the relationship between High-density Lipoprotein Cholesterol Concentration and acute kidney injury after non-cardiac surgeries. Method This was a single-center cohort study for elective non-cardiac non-kidney surgery from January 1, 2012, to December 31, 2017. The endpoint was the occurrence of acute kidney injury (AKI) 7 days postoperatively in the hospital. Preoperative serum High-density Lipoprotein Cholesterol Concentration was examined by multivariate logistic regression models before and after propensity score weighting analysis. Results Of the 74,284 surgeries, 4.4% (3159 cases) suffered acute kidney injury. The odds ratio for HDL (0.96–1.14 as reference, 1.35) was 1.28 (1.14–1.41), P 1.03 as reference) was associated with increased risk of postoperative AKI, with odds ratio 1.40 (1.27 ~ 1.52), P

The dose-dependent toxicity to cardiomyocytes has been well recognized as a central characteristic of doxorubicin (DOX)-induced cardiotoxicity (DIC), however, the pathogenesis of DIC in the cardiac microenvironment remains elusive. Irisin is a new hormone-like myokine released into the circulation in response to exercise with distinct functions in regulating apoptosis, inflammation, and oxidative stress. Recent advances revealed the role of irisin as a novel therapeutic method and an important mediator of the beneficial effects of exercise in cardioprotection. Here, by using a low-dose long-term mouse DIC model, we found that the perivascular fibrosis was involved in its myocardial toxicity with the underlying mechanism of endothelial-to-mesenchymal transition (EndMT). Irisin treatment could partially reverse DOX-induced perivascular fibrosis and cardiotoxicity compared to endurance exercise. Mechanistically, DOX stimulation led to excessive accumulation of ROS, which activated the NF-κB-Snail pathway and resulted in EndMT. Besides, dysregulation of autophagy was also found in DOX-treated endothelial cells. Restoring autophagy flux could ameliorate EndMT and eliminate ROS. Irisin treatment significantly alleviated ROS accumulation, autophagy disorder, NF-κB-Snail pathway activation as well as the phenotype of EndMT by targeting uncoupling protein 2 (UCP2). Our results also initially found that irisin was mainly secreted by cardiomyocytes in the cardiac microenvironment, which was significantly reduced by DOX intervention, and had a protective effect on endothelial cells in a paracrine manner. In summary, our study indicated that DOX-induced ROS accumulation and autophagy disorders caused an EndMT in CMECs, which played a role in the perivascular fibrosis of DIC. Irisin treatment could partially reverse this phenomenon by regulating UCP2. Cardiomyocytes were the main source of irisin in the cardiac microenvironment. The current study provides a novel perspective elucidating the pathogenesis and the potential treatment of DIC.

Abstract Background Circular RNAs (circRNAs) are 3′-5′ head-to-tail covalently closed non-coding RNA that have been proved to play essential roles in many cellular and developmental processes. However, no information relate to cucumber circRNAs is available currently, especially under salt stress condition. Results In this study, we sequenced circRNAs in cucumber and a total of 2787 were identified, with 1934 in root and 44 in leaf being differentially regulated under salt stress. Characteristics analysis of these circRNAs revealed following features: most of them are exon circRNAs (79.51%) and they prefer to arise from middle exon(s) of parent genes (2035/2516); moreover, most of circularization events (88.3%) use non-canonical-GT/AG splicing signals; last but not least, pairing-driven circularization is not the major way to generate cucumber circRNAs since very few circRNAs (18) contain sufficient flanking complementary sequences. Annotation and enrichment analysis of both parental genes and target mRNAs were launched to uncover the functions of differentially expressed circRNAs induced by salt stress. The results showed that circRNAs may be paly roles in salt stress response by mediating transcription, signal transcription, cell cycle, metabolism adaptation, and ion homeostasis related pathways. Moreover, circRNAs may function to regulate proline metabolisms through regulating associated biosynthesis and degradation genes. Conclusions The present study identified large number of cucumber circRNAs and function annotation revealed their possible biological roles in response to salt stress. Our findings will lay a solid foundation for further structure and function studies of cucumber circRNAs.

Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene. Methods and Results A male patient, 33 years, characterized by symmetric weakness of bilateral distal lower limbs, especially in anterior group of calf muscles, which was progressive slowly. His parents were consanguineous. The level of serum creatine kinase (CK) was elevated (1139 U/L); electromyography (EMG) presented with myogenic injury; CT results of bilateral lower limbs showed mild muscle atrophy; muscle histology showed dramatically varied sizes of myofibers, centralization of myonuclei, rimmed vacuoles in about 2% of myofibers; genetic testing exhibited homozygous mutation [GNE gene, exon 9, c.1624C > T (p.Pro542Ser)] in the proband and heterozygous mutation [GNE gene, exon 9, c.1624C > T (p.Pro542Ser)] in the proband's mother, son and daughter. This mutation had not been reported and was malignant according to bioinformatics analysis. Furthermore, the mutation was likely pathogenic ( Ⅱ) on the basis of American College of Medical Genetics and Genomics (ACMG) guideline. Thus, the patient was diagnosed as GNE myopathy, and the family was a pedigree with GNE myopathy. Conclusions This study systematically reports genotype and phenotype information of a patient with GNE myopathy, which extends mutation spectrum of GNE gene and improves the understandings of clinic practitioner for GNE myopathy.

Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese families were studied retrospectively. Results Dysferlinopathy has various clinical manifestations and different clinical subtypes which may appear in the same family. Case 1 was diagnosed as Miyoshi myopathy (MM), while her father (Case 2) was asymptomatic high serum creatine kinase (CK). Muscle MRI showed different degrees of fatty replacement. EMG revealed myogenic damage. Histological morphology showed myodystrophy. Immunohistochemical staining showed negative dysferlin expression in membrane of muscle cells. DYSF gene test showed nonsense mutation in exon 4 c.331C > T (p.Gln111Ter; Case 1 and Case 2) and frameshift mutation in exon 54 c.6141delC (Case 1), and nonsense mutation in exon 23 c.2311C > T (p.Gln771Ter) and frameshift mutation in exon 27 c.2870-2874delAGACC (Case 3). Conclusions Dysferlinopathy has clinical heterogeneity, which is easily misdiagnosed or missed in diagnosis. Detailed history inquiry, negative dysferlin expression in muscle biopsy and DYSF mutation are helpful for clear and classification diagnosis. DOI: 10.3969/j.issn.1672-6731.2018.07.008

Abstract Background The prognostic impact of long-term glycemic variability on clinical outcomes in patients with heart failure (HF) and type 2 diabetes mellitus (T2DM) remains unclear. We determined and compared hemoglobin A1c (HbA1c) variability and clinical outcomes for patients with HF with preserved ejection fraction (HFpEF), HF with mid-range ejection fraction (HFmrEF) and HF with reduced ejection fraction (HFrEF) in a prospective longitudinal study. Methods Patients with HF and T2DM, undergone 3 or more HbA1c determinations during the first 18 months, were then followed for 42 months. The primary outcome was death from any cause. Secondary outcome was composite endpoints with death and HF hospitalization. Cox proportional hazards models were used to compare outcomes for patients with HFpEF, HFmrEF and HFrEF. Results Of 902 patients enrolled, 32.2% had HFpEF, 14.5% HFmrEF, and 53.3% HFrEF. During 42 months of follow-up, 270 (29.9%) patients died and 545 (60.4%) patients experienced composite endpoints of death and HF readmission. The risk of all-cause death or composite endpoints was lower for HFpEF than HFrEF. Moreover, higher HbA1c variability was associated with higher all-cause mortality or composite endpoints and HbA1c variability was an independent predictor of all-cause mortality or composite endpoints, regardless of EF. Conclusions This prospective longitudinal study showed that the all-cause death and composite events was lower for HFpEF than HFrEF. HbA1c variability was independently and similarly predictive of death or combined endpoints in the three HF phenotypes.

AIM: To study the visual quality, dry eye and biomechanical stability of patients with myopia and astigmatism after different corneal refractive surgeries.METHODS: A total of 986 patients with myopia and astigmatism were selected as the research object in our hospital from July 2015 to July 2016, according to the operation mode of the selection of the research object, the 986 patients were randomly divided into small incision lenticule extraction(SMILE)group, femtosecond laser in situ keratomileusis(FS-LASIK)group, sub-bowman-keratomileusis(SBK)group and laser-assisted in situ keratomileusis(LASIK)group. The postoperative visual quality was determined by comparing the diopter, uncorrected visual acuity(UCVA), best corrected visual acuity(BCVA)and high-order image difference of 25d, 90d. The postoperative dry eye condition was determined by comparing the postoperative tear secretion test(Schirmer Ⅰ test), tear film rupture time(BUT)and fluorescence staining(FS). The biomechanical stability of the patients was determined by comparing the corneal hysteresis(CH)and corneal resistance factor(CRF)values of the four groups. RESULTS: The diopter, UCVA, BCVA and high-order aberration comparison of FS-LASIK group, SBK group and LASIK group between before and after surgery, showed no significant difference(P>0.05); on diopter, BCVA, UCVA, there was no significant difference between before and after surgery in SMILE group(P>0.05), but statistical significance difference on high order aberration(PPPPCONCLUSION: SMILE, FS-LASIK, SBK and LASIK are equally safe, effective and stable in the treatment of myopia and astigmatism.

Background: Anomalous origin of the left coronary artery (LCA) from the pulmonary artery (ALCAPA) is a rather rare congenital anomaly that has a profound effect on heart function. This study aimed to retrospectively illustrate the perioperative clinical features, therapy experience, and midterm outcomes after surgical correction, and to determine the value of left ventricular ejection fraction (LVEF) and myocardial viability in differentiating critically ill patients among infants and children with ALCAPA. Methods: From April 1999 to March 2013, infants and children patients diagnosed with ALCAPA in Beijing Fuwai Hospital were analyzed. Clinical data of patients were summarized and retrospectively analyzed. All patients were divided into two groups according to LVEF level (Group 1: LVEF >50%, or Group 2: LVEF ≤50%) to compare perioperative and follow-up variables. Effect of myocardial viability evaluated according to myocardial perfusion/18F-fluorodeoxyglucose (FDG) imaging on the clinical variables was also analyzed. Results: A total of 50 patients with ALCAPA (male/female: 29/21; median age: 3.1 years [range: 4 months to 18 years]) were included. Younger age, lower weight, intercoronary collaterals (ICC) dysplasia, ratio of the proximal right coronary artery diameter to the aortic root diameter

Adipose-derived stem cells have been shown to promote peripheral nerve regeneration through the paracrine secretion of neurotrophic factors. However, it is unclear whether these cells can promote myogenic differentiation in muscular dystrophy. Adipose-derived stem cells (6 × 10 6 ) were injected into the gastrocnemius muscle of mdx mice at various sites. Dystrophin expression was found in the muscle fibers. Phosphorylation levels of Akt, mammalian target of rapamycin (mTOR), eIF-4E binding protein 1 and S6 kinase 1 were increased, and the Akt/mTOR pathway was activated. Simultaneously, myogenin levels were increased, whereas cleaved caspase 3 and vimentin levels were decreased. Necrosis and fibrosis were reduced in the muscle fibers. These findings suggest that adipose-derived stem cells promote the regeneration and survival of muscle cells by inhibiting apoptosis and fibrosis, thereby alleviating muscle damage in muscular dystrophy.

Background DMD gene point mutation, mainly nonsense mutation, always cause the most severe Duchenne muscular dystrophy (DMD). However, we also observed some cases of Becker muscular dystrophy (BMD) carrying DMD point mutation. This paper aims to explore the mechanism of DMD point mutation causing BMD, in order to enhance the understanding of mutation types of BMD. Methods Sequence analysis was performed in 11 cases of BMD confirmed by typical clinical manifestations and muscle biopsy. The exon of DMD gene was detected non-deletion or duplication by multiplex ligation-dependent probe amplification (MLPA). Results Eleven patients carried 10 mutation types without mutational hotspot. Six patients carried nonsense mutations [c.5002G>T, p.(Glu1668X); c.1615C > T, p.(Arg539X); c.7105G > T, p.(Glu2369X); c.5287C > T, p.(Arg1763X); c.9284T > G, p.(Leu3095X)]. One patient carried missense mutation [c.5234G > A, p.(Arg1745His)]. Two patients carried frameshift mutations (c.10231dupT, c.10491delC). Two patients carried splicing site mutations (c.4518 + 3A > T, c.649 + 2T > C). Conclusions DMD gene point mutation may result in BMD with mild clinical symptoms. When clinical manifestations suggest the possibility of BMD and MLPA reveals non?deletion or duplication mutation of DMD gene, BMD should be considered. Study on the mechanism of DMD point mutation causing BMD is very important for gene therapy of DMD. DOI: 10.3969/j.issn.1672-6731.2015.06.005

Objective To observe the skeletal muscle dystrophin expression and neuromuscular junction (NMJ) morphology in adult and young mdx mice. Methods Select eight 8-week-old specific pathogen free (SPF) C57BL/6 mice, four 8-week-old adult mdx mice and four 2-week-old young mdx mice. Observe the histological features of myoctyes by HE staining, and detect the expression changes of gastrocnemius muscle dystrophin and morphology of NMJ by immunofluorescent staining. Results The gastrocnemius muscle cells of C57BL/6 mice were almost uniform in size and polygonal. The nuclei were located in the peripheral of cells, while only a few were located in the center of myofiber. The sarcolemma expressed dystrophin uniformly and NMJ were intact. The gastrocnemius muscle cells of mdx mice were not consistent in size and had round shape. Part of nuclei were centralized. Only a few muscle cells expressed dystrophin. The acetylcholine receptor (AChR) on postsynaptic membrane of adult mdx mice were broken into small fragments, and the nerve terminal of presynaptic membrane had a great increase in the number of attenuated neurites. The morphology of NMJ in young mdx mice was similar to C57BL/6 mice. In both adult and young mdx mice, the number of NMJ had a great reduction, the cross-sectional area of presynaptic and postsynaptic membrane decreased obviously, and intercellular neural axons were thinned evidently. Conclusions The absence of dystrophin in mdx mice is not the direct factor causing NMJ abnormities. The degeneration of muscle in the development of DMD may lead to the changes. DOI: 10.3969/j.issn.1672-6731.2015.05.007

Sugarcane can suffer severe yield losses when affected by leaf scald, a disease caused by Xanthomonas albilineans. This bacterial pathogen colonizes the vascular system of sugarcane, which can result in reduced plant growth and plant death. In order to better understand the molecular mechanisms involved in the resistance of sugarcane to leaf scald, a comparative proteomic study was performed with two sugarcane cultivars inoculated with X. albilineans: one resistant (LCP 85-384) and one susceptible (ROC20) to leaf scald. The iTRAQ (isobaric tags for relative and absolute quantification) approach at 0 and 48 h post-inoculation (hpi) was used to identify and annotate differentially expressed proteins (DEPs). A total of 4295 proteins were associated with 1099 gene ontology (GO) terms by GO analysis. Among those, 285 were DEPs during X. albilineans infection in cultivars LCP 85-384 and ROC20. One hundred seventy-two DEPs were identified in resistant cultivar LCP 85-384, and 113 of these proteins were upregulated and 59 were downregulated. One hundred ninety-two DEPs were found in susceptible cultivar ROC20 and half of these (92) were upregulated, whereas the other half corresponded to downregulated proteins. The significantly upregulated DEPs in LCP 85-384 were involved in metabolic pathways, the biosynthesis of secondary metabolites, and the phenylpropanoid biosynthesis pathway. Additionally, the expression of seven candidate genes related to photosynthesis and glycolytic pathways, plant innate immune system, glycosylation process, plant cytochrome P450, and non-specific lipid transfer protein was verified based on transcription levels in sugarcane during infection by X. albilineans. Our findings shed new light on the differential expression of proteins in sugarcane cultivars in response to infection by X. albilineans. The identification of these genes provides important information for sugarcane variety improvement programs using molecular breeding strategies.

Leaf scald (caused by Xanthomonas albilineans) is an important bacterial disease affecting sugarcane in most sugarcane growing countries, including China. High genetic diversity exists among strains of X. albilineans from diverse geographic regions. To highlight the genomic features associated with X. albilineans from China, we sequenced the complete genome of a representative strain (Xa-FJ1) of this pathogen using the PacBio and Illumina platforms. The complete genome of strain Xa-FJ1 consists of a circular chromosome of 3,724,581 bp and a plasmid of 31,536 bp. Average nucleotide identity analysis revealed that Xa-FJ1 was closest to five strains from the French West Indies and the USA, particularly to the strain GPE PC73 from Guadeloupe. Comparative genomic analysis between Xa-FJ1 and GPE PC73 revealed prophage integration, homologous recombination, transposable elements, and a clustered regulatory interspaced short palindromic repeats (CRISPR) system that were linked with 16 insertions/deletions (InDels). Ten and 82 specific genes were found in Xa-FJ1 and GPE PC73, respectively, and some of these genes were subjected to phage-related proteins, zona occludens toxin, and DNA methyltransferases. Our findings highlight intra-species genetic variability of the leaf scald pathogen and provide additional genomic resources to investigate its fitness and virulence.

Objective The clinical manifestation and electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation of riboflavin-responsive lipid storage myopathy were analyzed for early diagnosis and treatment.mutation of riboflavin-responsive lipid storage myopathy were analyzed for early diagnosis and treatment. Methods Clinical material, ETFDH gene mutation and the motor function before and after vitamin B2 treatment in 3 patients from 2 predigrees were collected from August 2012 to March 2013 in our hospital. Results Case 1 was 16-year-old female. The chief complaint was difficulty of breathing and expectorating for over 3 years. Clinical symptoms included progressive respiratory muscle and proximal limb muscle weakness and worsen by fever, cardiac involvement, myopathic electromyography (EMG) changes and deposition of lipid droplets in muscle fiber by oil red O staining. Case 2 and Case 3 were brothers, the chief complaint of whom was fatigue after exercise for more than 1 year and 1 month, respectively. Clinical symptoms included significantly weakness of lower limbs and neck muscles after exercise and myopathic EMG changes. All 3 patients from two predigrees presented ETFDH gene mutation [c.250G > A (Ala84Thr) homozygous mutations and c.250G > A (Ala84Thr) and c.524G > A (Arg175His) compound heterozygous mutations, respectively]. They all had a dramatic response to vitamin B2 treatment with muscle strength and motor function recovering to normal. The symptoms of Case 1 were completely disappeared with vitamin B2 treatment for over 10 months, including respiratory muscle and proximal limb muscle weakness, and the motor function of her limbs returned to normal, characterized by completing over 10 squat-stand in 1 min. Case 2 could walk and run as ordinary people, raise his head without difficulty and play basketball about 2 h without fatigue after vitamin B2 treatment for over 2 months. Case 3 could participate in any kind of strenuous exercise without fatigue after vitamin B2 treatment for over 2 months. Conclusions Riboflavin-responsive lipid storage myopathy is mainly characterized by proximal limb and trunk muscle weakness and intolerance of movement, however, rare cases with first symptom of respiratory muscle weakness should also be concerned. In addition, it is a treatable genetic disease. The patients could be cured or significantly improved with vitamin B2 monotherapy. So vitamin B2 exploratory treatment should be given when the patients are suspected of riboflavin-responsive lipid storage myopathy. doi: 10.3969/j.issn.1672-6731.2014.06.004

Background To investigate the gene mutation and clinical features of hypokalemic periodic paralysis (HypoPP) in a Han family. Methods Mutation analyses of CACNA1S, SCN4A and KCNE3 gene were screened by DNA direct sequencing in the proband (Ⅲ3). Then, other patients and one asymptomatic relative were tested for the mutation detected in the proband before. Besides, clinical information was collected and analyzed carefully so as to detect whether the mutations were responsible for HypoPP. Results KCNE3 gene was not detected in the propositus (Ⅲ 3). Mutations of IVS25-194C/T in CACNA1S gene were detected in the propositus (Ⅲ 3) and other patients (Ⅱ 1, Ⅲ 4, Ⅳ 3), while it was not detected in the asymptomatic relative (Ⅲ1). Given that it was an intron mutation, we presumed that it was not responsible for HypoPP in this family. In addition, mutations of IVS18-130G/A in SCN4A gene were detected in all patients (except for Ⅰ1) and asymptomatic relative (Ⅲ 1). Since it was an intron mutation and it was detected in symptomatic or asymptomatic members simultaneously, we also presumed that it was not responsible for HypoPP in this family. Interestingly, a missense mutation (V662I) of c.1984G > A in exon 12 of SCN4A gene was detected in the proband (Ⅲ 3) and asymptomatic relative (Ⅲ 1). However, it was not detected in other symptomatic members ( Ⅱ 1, Ⅲ 4, Ⅳ 3). Based on clinical information and bioinformatics, we presumed that it was not causative mutation for the disease in this pedigree. Conclusions This pedigree research enriched the data of gene mutation and clinical features of HypoPP in China. Besides for gene KCNE3, CACNA1S and SCN4A, other gene mutations accounted for HypoPP in the Han family should be further studied. doi: 10.3969/j.issn.1672-6731.2014.06.006

Recently, the max-min approach was systematically studied in the review article (Ji-Huan, 2012). This paper concludes that He's max-min approach is also a very much effective method for nonlinear oscillators with discontinuous terms.