Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia

Objective: Familial glucocorticoid deficiency type I (FGD1) is a rare form of primary adrenal insufficiency resulting from recessive mutations in the ACTH receptor (MC2R, MC2R). Individuals with this condition typically present in infancy or childhood with signs and symptoms of cortisol insufficiency, but disturbances in the renin-angiotensin system, aldosterone synthesis or sodium homeostasis are not a well-documented association of FGD1. As ACTH stimulation has been shown to stimulate aldosterone release in normal controls, and other causes of hyponatraemia can occur in children with cortisol deficiency, we investigated whether MC2R changes might be identified in children with primary adrenal failure who were being treated for mineralocorticoid insufficiency. Design: Mutational analysis of MC2R by direct sequencing. Patients: Children (n = 22) who had been diagnosed with salt-losing forms of adrenal hypoplasia (19 isolated cases, 3 familial), and who were negative for mutations in DAX1 (NR0B1) and SF1 (NR5A1). Results: MC2R mutations were found in three individuals or kindred (I: homozygous S74I; II: novel compound heterozygous R146H/560delT; III: novel homozygous 579-581delTGT). These changes represent severely disruptive loss-of-function mutations in this G-protein coupled receptor, including the first reported homozygous frameshift mutation. The apparent disturbances in sodium homeostasis were mild, manifest at times of stress (e.g. infection, salt-restriction, heat), and likely resolved with time. Conclusions: MC2R mutations should be considered in children who have primary adrenal failure with apparent mild disturbances in renin-sodium homeostasis. These children may have been misdiagnosed as having salt-losing adrenal hypoplasia. Making this diagnosis has important implications for treatment, counselling and long-term prognosi

Acupuncture transmitted infections.

published_or_final_versio

Application of hepatitis B virus (HBV) DNA sequence polymorphisms to the study of HBV transmission

Short sequences in hypervariable regions of the hepatitis B virus (HBV) genome can be used to identify different strains, providing a novel approach to the study of HBV transmission. The nucleotide sequence in positions 2551-2650 (1: EcoRI site) was determined for serum HBV DNA from 96 Chinese children living in Hong Kong and from 38 of their parents. HBV DNA was extracted and sequenced after amplification with the polymerase chain reaction, using as primers oligonucleotides corresponding to two conserved sequences. Among 82 unrelated children, 32 HBV DNA variants were present. One sequence was present in 33 children and 31 variants were found among the other 49. Siblings within each of nine families had the same variant; in three families siblings had different variants. Six of the eight fathers and 28 of the 30 mothers had HBV DNA sequences identical to those of their offspring. A total of 34 variants were found among the 134 individuals. The hypothesis of random assortment of sequences in parents and children was rejected (P < .00005). Thus, this new approach proves the occurrence of intrafamilial transmission of HBV among Chinese.published_or_final_versio

Protective effect of Dendrobium officinale polysaccharides on experimental Sjogren's syndrome

Sjogren's syndrome (SS), usually described as a chronic inflammation which results in xerostomia (dry mouth) and xerophthalmia (dry eyes). According to the theory of traditional Chinese medicine, body fluid impairment causes the dryness, inducing water secretion deficiency. Discovery of a family of water-specific membrane channel proteins, the aquaporins, provides an interesting molecular mechanism of water permeability and transportation which were found abnormal in tissues of SS patients. Thus, this dryness may lead to the dysfunction in organs as various systematic manifestations. We established an autoallergic mouse model in vivo, and human salivary gland cell line A-253 in vitro. Polysaccharides of Dendrobium officinale (DP) were administrated as treatment, which was described to nourish yin and promote the body fluid. Results showed that immunization with SG autoantigen induced decrease of body weight and increased water intake, decreased AQP5 expression in a series of organs related to body fluid. Sera from model mice induced apoptosis of A-253 cells with activation of caspase-3. Administration of DP could reverse these pathological changes in both the animal and cell model. Thus, DP may be a promising candidate for the treatment of SS by up-regulating the expression of AQP-5 and protecting cells from apoptosis. © 2010 The Berkeley Electronic Press. All rights reserved.published_or_final_versio

Protective effect of Dendrobium officinale polysaccharides on experimental Sjogren's syndrome

Sjogren's syndrome (SS), usually described as a chronic inflammation which results in xerostomia (dry mouth) and xerophthalmia (dry eyes). According to the theory of traditional Chinese medicine, body fluid impairment causes the dryness, inducing water secretion deficiency. Discovery of a family of water-specific membrane channel proteins, the aquaporins, provides an interesting molecular mechanism of water permeability and transportation which were found abnormal in tissues of SS patients. Thus, this dryness may lead to the dysfunction in organs as various systematic manifestations. We established an autoallergic mouse model in vivo, and human salivary gland cell line A-253 in vitro. Polysaccharides of Dendrobium officinale (DP) were administrated as treatment, which was described to nourish yin and promote the body fluid. Results showed that immunization with SG autoantigen induced decrease of body weight and increased water intake, decreased AQP5 expression in a series of organs related to body fluid. Sera from model mice induced apoptosis of A-253 cells with activation of caspase-3. Administration of DP could reverse these pathological changes in both the animal and cell model. Thus, DP may be a promising candidate for the treatment of SS by up-regulating the expression of AQP-5 and protecting cells from apoptosis. © 2010 The Berkeley Electronic Press. All rights reserved.published_or_final_versio

General Argyres-Douglas Theory

We construct a large class of Argyres-Douglas type theories by compactifying six dimensional (2,0) A_N theory on a Riemann surface with irregular singularities. We give a complete classification for the choices of Riemann surface and the singularities. The Seiberg-Witten curve and scaling dimensions of the operator spectrum are worked out. Three dimensional mirror theory and the central charges a and c are also calculated for some subsets, etc. Our results greatly enlarge the landscape of N=2 superconformal field theory and in fact also include previous theories constructed using regular singularity on the sphere.Comment: 55 pages, 20 figures, minor revision and typos correcte

Robot computing for music visualization

© Springer Nature Switzerland AG 2019. This paper presents an algorithm design of Music Visualization on Robot (MVR) which could automatically link the flashlight, color, and emotion through music. We call this algorithm as MVR algorithm that composed by two analyses. First, we focus on Music Signal Analysis. Second, we focus on Music Sentiment Analysis. We integrate two analysis results and implement the MVR algorithm on a robot called Zenbo which is released from ASUS Company. We perform the Zenbo Robot in luminous environments. The MVR system not only could be used in Zenbo robot but also could extend to other fields of Artificial Intelligent (AI) equipment in the future

Optimizing Human Synovial Fluid Preparation for Two-Dimensional Gel Electrophoresis

<p>Abstract</p> <p>Background</p> <p>Proteome analysis is frequently applied in identifying the proteins or biomarkers in knee synovial fluids (SF) that are associated with osteoarthritis and other arthritic disorders. The 2-dimensional gel electrophoresis (2-DE) is the technique of choice in these studies. Disease biomarkers usually appear in low concentrations and may be masked by high abundant proteins. Therefore, the main aim of this study was to find the most suitable sample preparation method that can optimize the expression of proteins on 2-DE gels that can be used to develop a reference proteome picture for non-osteoarthritic knee synovial fluid samples. Proteome pictures obtained from osteoarthritic knee synovial fluids can then be compared with the reference proteome pictures obtained in this study to assist us in identifying the disease biomarkers more correctly.</p> <p>Results</p> <p>The proteomic tool of 2-DE with immobilized pH gradients was applied in this study. A total of 12 2-DE gel images were constructed from SF samples that were free of osteoarthritis. In these samples, 3 were not treated with any sample preparation methods, 3 were treated with acetone, 3 were treated with 2-DE Clean-Up Kit, and 3 were treated with the combination of acetone and 2-D Clean-Up Kit prior to 2-DE analysis. Gel images were analyzed using the PDQuest Basic 8.0.1 Analytical software. Protein spots that were of interest were excised from the gels and sent for identification by mass spectrometry. Total SF total protein concentration was calculated to be 21.98 ± 0.86 mg/mL. The untreated SF samples were detected to have 456 ± 33 protein spots on 2-DE gel images. Acetone treated SF samples were detected to have 320 ± 28 protein spots, 2-D Clean-Up Kit treated SF samples were detected to have 413 ± 31 protein spots, and the combined treatment method of acetone and 2-D Clean-Up Kit was detected to have 278 ± 26 protein spots 2-DE gel images. SF samples treated with 2-D Clean-Up Kit revealed clearer presentation of the isoforms and increased intensities of the less abundant proteins of haptoglobin, apolipoprotein A-IV, prostaglandin-D synthase, alpha-1B-glycoprotein, and alpha-2-HS-glycoprotein on 2-DE gel images as compared with untreated SF samples and SF samples treated with acetone.</p> <p>Conclusions</p> <p>The acetone precipitation method and the combined treatment effect of acetone and 2-DE Clean-Up Kit are not preferred in preparing SF samples for 2-DE analysis as both protein intensities and numbers decrease significantly. On the other hand, 2-D Clean-Up Kit treated SF samples revealed clearer isoforms and higher intensities for the less abundant proteins of haptoglobin, apolipoprotein A-IV, prostaglandin-D synthase, alpha-1B-glycoprotein, and alpha-2-HS-glycoprotein on 2-DE gels. As a result, it is recommended that SF samples should be treated with protein clean up products such as 2-D Clean-Up Kit first before conducting proteomic research in searching for the relevant biomarkers associated with knee osteoarthritis.</p

Relationship between maximal incremental and high-intensity interval exercise performance in elite athletes

This descriptive study aimed to explore the physiological factors that determine tolerance to exertion during high-intensity interval effort. Forty-seven young women (15–28 years old) were enrolled: 23 athletes from Taiwan national or national reserve teams and 24 moderately active females. Each participant underwent a maximal incremental INC (modified Bruce protocol) cardiopulmonary exercise test on the first day and high-intensity interval testing (HIIT) on the second day, both performed on a treadmill. The HIIT protocol involved alternation between 1-min effort at 120% of the maximal speed, at the same slope reached at the end of the INC, and 1-min rest until volitional exhaustion. Gas exchange, heart rate (HR), and muscle oxygenation at the right vastus lateralis, measured by near-infrared spectroscopy, were continuously recorded. The number of repetitions completed (Rlim) by each participant was considered the HIIT tolerance index. The results showed a large difference in the Rlim (range, 2.6–12.0 repetitions) among the participants. Stepwise linear regression revealed that the variance in the Rlim within the cohort was related to the recovery rates of oxygen consumption (), HR at the second minute after INC, and muscle tissue saturation index at exhaustion (R = 0.644). In addition, age was linearly correlated with Rlim (adjusted R = −0.518, p \u3c 0.0001). In conclusion, the recovery rates for and HR after the incremental test, and muscle saturation index at exhaustion, were the major physiological factors related to HIIT performance. These findings provide insights into the role of the recovery phase after maximal INC exercise testing. Future research investigating a combination of INC and HIIT testing to determine training-induced performance improvement is warranted

Identification and characterization of a novel incompatibility group X3 plasmid carrying blaNDM-1 in Enterobacteriaceae isolates with epidemiological links to multiple geographical areas in China

postprin