To improve the clinical diagnosis of neural autoimmune diseases, we developed an in-house muscle-specific kinase (MuSK) antibody cell-based assay (CBA) and compared its performance with RIA, ELISA, and other CBAs. Sera from patients with myasthenia gravis (MG) and other autoimmune diseases were analyzed. We found 46 (18.3%) MuSK-CBA Ab positive cases among 251 AChR-Ab negative cases [patients] and 4 (0.6%) MuSK-CBA Ab positive cases [among] the 624 AChR-Ab positive samples. Comparing these with available clinic assays, our highly specific CBA method is more sensitive than commercial ELISA and IFA(indirect immunofluorescence assay).

The periosteum plays a vital role in both development and injury healing process of bone. However, few researches have focused on artificial periosteum, which was also limited by the complexity on its construction and biological risks for clinical practice. In order to tackle this issue, inspired by the structural development of periosteum, we put forward a hierarchical micro/nanofibrous bionic periosteum with sustained releasing of VEGF as exogenous vascularized fibrous layer of periosteum to induce endogenous cambium layer in vivo for complete regeneration of periosteal and bone tissue, through collagen self-assembly and micro-sol electrospinning technologies. The VEGF encapsulated in hyaluronan-PLLA core-shell structure was demonstrated to be released in a durable way for angiogenesis in fibrous layer and bone defect area. Meanwhile, the self-assembly of collagen together with electrospun fibers contributed to a hierarchical micro/nanostructure which greatly mimicked the microenvironment of extracellular matrix to provide structural and biochemical cues for cell adhesion, proliferation and differentiation, and lead to the formation of cambium layer which mimicked the in-situ ossification manner as intramembranous ossification. As the motif of this study, the periosteal regeneration was characterized both by osteoblasts and periostin, which represented structural and molecular mechanisms respectively. Furthermore, the periosteal biomaterial proposed here possessed the superior abilities of scar inhibition, angiogenesis, osteogenesis to repair the bone defect in a uniform and rapid manner by inherent periosteal ossific mechanism involved in both intramembranous and endochondral ossification. Thus, the endogenous-exogenous combined bionic periosteum proved to be efficient and versatile in triggering periosteal and bone regeneration and hopefully supply a promising strategy for solving clinical issue.

We aimed to evaluate the size/tortuosity of the optic nerve (ON) and the dilatation of the ON sheath (ONS) in neurofibromatosis type 1 (NF-1) patients with 3T-MRI, and to assess the usefulness of 3D-SPACE in imaging the optic pathway, ON, and ONS in NF-1 patients.

Since January 2015, the Cystic Fibrosis Newborn Screening (CFNS) program has been implemented in Turkey. We aimed to evaluate the demographic, clinical, and laboratory data of cases referred from the CFNS program and to determine the most suitable cut-off value for immunoreactive trypsinogen (IRT)-1 and immunoreactive trypsinogen (IRT-2) that are used in the CFNS program in Turkey.

Ribosomal DNA (rDNA) repeats are situated in the nucleolus organizer regions (NOR) of chromosomes and transcribed into rRNA for ribosome biogenesis. Thus, they are an essential component of eukaryotic genomes. rDNA repeat units consist of rRNA gene clusters that are transcribed into single pre-rRNA molecules, each separated by intergenic spacers (IGS) that contain regulatory elements for rRNA gene cluster transcription. Because of their high repeat content, rDNA sequences are usually absent from genome assemblies. In this work, we used the long-read sequencing technology to describe the chicken IGS and fill the knowledge gap on rDNA sequences of one of the key domesticated animals.

Pine trees challenged by Bursaphelenchus xylophilus invasion produce phytoalexins to combat this nematode. Nevertheless, the phytoalexins of Asian pine trees are ineffective against B. xylophilus. The anti-phytoalexin genes of B. xylophilus disable almost all Asian pine phytoalexins, which has allowed B. xylophilus to devastate pine forests in eastern Asia over the last four decades. However, to date, the factors that stimulate anti-phytoalexin gene expression and the mechanisms by which these genes act are not well understood.

Conventional plant DNA isolation methods are complex, time consuming and require technical expertise. These limitations were overcome using the DNA isolation kits which, however significantly add to the research costs. Hence the present study was aimed to develop a high throughput, rapid and inexpensive method of PCR ready DNA template preparation from plant materials.

Previous research revealed that luteolin could improve the activation of alkaline phosphatase (ALP) and osteocalcin in mouse osteoblasts. We aimed to determine the effect of luteolin on osteogenic differentiation of periodontal ligament cells (PDLCs).

Cancer patients experience psychological and social distress due to their medical treatment and social issues. However, continuous and specialized social support is still lacking. In Germany, a group of company health insurance funds has developed an approach to support cancer patients with monthly structured interviews conducted by specially trained Social Care Nurses. The nurses will identify patient needs in order to provide help with medical, personal, and social matters. One aim of the scientific evaluation is to analyze the effect of the consultations on various patient-reported outcomes, especially quality of life. The evaluation concept will be described in this study protocol.

The stranding events of cetaceans in the Philippines provide opportunities for gathering biological information and specimens, especially from the pelagic forms. As part of an effort to monitor the health of wild cetaceans, this study detected Leptospira spp. and Toxoplasma gondii, causative agents of the emerging zoonotic diseases leptospirosis and toxoplasmosis respectively, in their stranded representatives. From October 2016-August 2018, 40 cetaceans (representing 14 species) that stranded nationwide were sampled for brain, cardiac muscle, skeletal muscle, kidney, and blood tissues, urine, and sera. These were subjected to molecular, serological, culture, and histopathological analyses to detect the target pathogens.

Within Population Health Management (PHM) initiatives, stakeholders from various sectors apply PHM strategies, via which services are reorganised and integrated in order to improve population health and quality of care while reducing cost growth. This study unravelled how stakeholders' expectations and prior experiences influenced stakeholders intended PHM strategies.

Accumulating evidence indicates that CD36 initiates metastasis and correlates with an unfavorable prognosis in cancers. However, there are few reports regarding the roles of CD36 in initiation and metastasis of cervical cancer.

Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents skeletal myopathy, cardiomyopathy and the multiple organs dysfunction. Around 50 cases of NLSDM have been described worldwide, whereas the comprehensive understanding of this disease are still limited. We therefore recruit NLSDM patients from 10 centers across China, summarize the clinical, muscle imaging, pathological and genetic features, and analyze the genotype-phenotype relationship.

Terminally differentiated/nondividing macrophages, a key target cell type of HIV-1, harbor extremely low dNTP concentrations established by a host dNTP triphosphohydrolase, SAM domain and HD domain containing protein 1 (SAMHD1). We tested whether the induction of dNTP pool imbalance can affect HIV-1 replication in macrophages. For this test, we induced a large dNTP pool imbalance by treating human primary monocyte derived macrophages with either one or three of the four deoxynucleosides (dNs), which are phosphorylated to dNTPs in cells, to establish two different dNTP imbalance conditions in macrophages.

Bone marrow-derived mesenchymal stem cell (BMSC) transplantation is one of the new therapeutic strategies for treating ischemic brain and heart tissues. However, the poor survival rate of transplanted BMSCs in ischemic tissue, due to high levels of reactive oxygen species (ROS), limits the therapeutic efficacy of this approach. Considering that BMSC survival may greatly enhance the effectiveness of transplantation therapy, development of effective therapeutics capable of mitigating oxidative stress-induced BMSC apoptosis is an important unmet clinical need.

Steroid sulfotransferase (SULT) plays physiological roles but its role in clear cell-renal cell carcinoma (ccRCC) remains unclear. We therefore investigated genetic alteration of steroid SULT genes in ccRCC.

Cheilitis granulomatosa (CG) is a disturbing and persistent idiopathic lip swelling. The cause and treatment has not been wholly elucidated. Some reports infer that CG is mainly associated with dental infection but no firm or reliable microbiological evidence has been provided for a causative organism. This study aimed to evaluate whether microorganisms contribute to the etiology of CG in order to inform appropriate treatment op tions in clinic.

BACKGROUND Hospitalizations in patients with systemic lupus erythematosus (SLE) have been reported from different regions in the world. This study aimed to evaluate the annual hospitalization rate, causes of hospitalization, and potential factors associated with frequency of hospitalization in Chinese patients. MATERIAL AND METHODS We performed an ambispective cohort study for hospitalized patients with SLE in a Chinese single center. Data on demographics, organ involvements, laboratory abnormities, clinical treatments, causes of hospitalization, and survival outcomes were recorded at the time of SLE diagnosis and during a follow-up period. Poisson regression models were created to identify the potential factors associated with frequency of hospitalization. RESULTS Of 526 patients with SLE, 242 patients (46%) had 1 or more admissions amounting to a total of 449 times during a median follow-up period of 4.73 years. The annual hospitalization rate was 18% and death occurred in 2.5% of total admissions. SLE flare, infection and pregnancy-related morbidity were the most common causes of hospitalization. Besides, the multivariate Poisson regression analysis revealed that decreased albumin, decreased renal function, and high disease damage were the risk factors for more frequency of hospitalization, whereas positive anti-SSA antibody and use of hydroxychloroquine were protective factors. CONCLUSIONS Nearly half of patients (46%) with SLE experience 1 or more hospitalizations, mainly due to SLE flare, infection, and pregnancy-related morbidity. Lupus patients with decreased albumin, decreased renal function, and high disease damage are more susceptible to have frequent hospitalization.

The autoimmune encephalitis (AE) syndromes have been characterised by the detection of autoantibodies in serum and/or cerebrospinal fluid which target the extracellular domains of specific neuroglial antigens. The clinical syndromes have phenotypes which are often highly characteristic of their associated antigen-specific autoantibody. For example, the constellation of psychiatric features and the multi-faceted movement disorder observed in patients with NMDAR antibodies are highly distinctive, as are the faciobrachial dystonic seizures observed in close association with LGI1 antibodies. These typically tight correlations may be conferred by the presence of autoantibodies which can directly access and modulate their antigens in vivo. AE remains an under-recognised clinical syndrome but one where early and accurate detection is critical as prompt initiation of immunotherapy is closely associated with improved outcomes. In this review of a rapidly emerging field, we outline molecular observations with translational value. We focus on contemporary methodologies of autoantibody detection, the evolution and distinctive nature of the clinical phenotypes, generalisable therapeutic paradigms, and finally discuss the likely mechanisms of autoimmunity in these patients which may inform future precision therapies.

HbMBF1a was isolated and characterized in H. brevisubulatum, and overexpressed HbMBF1a could enhance the salt tolerance and ABA insensitivity in Arabidopsis thaliana. The transcript levels of stress-responsive genes were significantly increased in the transgenic lines under salt and ABA conditions. Salinity is an abiotic stress that considerably affects plant growth, yield, and distribution. Hordeum brevisubulatum is a halophyte that evolved to become highly tolerant to salinity. Multiprotein bridging factor 1 (MBF1) is a transcriptional coactivator and an important regulator of stress tolerance. In this study, we isolated and characterized HbMBF1a based on the transcriptome data of H. brevisubulatum grown under saline conditions. We overexpressed HbMBF1a in Arabidopsis thaliana and compared the phenotypes of the transgenic lines and the wild-type in response to stresses. The results indicated that HbMBF1a expression was induced by salt and ABA treatments during the middle and late stages. The overexpression of HbMBF1a in A. thaliana resulted in enhanced salt tolerance and ABA insensitivity. More specifically, the enhanced salt tolerance manifested as the increased seed germination and seedling growth and development. Similarly, under ABA treatments, the cotyledon greening rate and seedling root length were higher in the HbMBF1a-overexpressing lines, suggesting the transgenic plants were better adapted to high exogenous ABA levels. Furthermore, the transcript levels of stress-responsive genes were significantly increased in the transgenic lines under salt and ABA conditions. Thus, HbMBF1a is a positive regulator of salt and ABA responses, and the corresponding gene may be useful for producing transgenic plants that are salt tolerant and/or ABA insensitive, with few adverse effects. This study involved a comprehensive analysis of HbMBF1a. The results may provide the basis and insight for the application of MBF1 family genes for developing stress-tolerant crops.