ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease prominently characterized by slowly progressive lower limb weakness and spasticity. The significant genotypic and phenotypic heterogeneity of this disease makes its accurate diagnosis challenging. In this study, we identified the NM_001168272: c.2714A > G (chr3.hg19: g.4716912A > G, N905S) variant in the ITPR1 gene in a three-generation Chinese family with multiple individuals affected by HSP, which we believed to be associated with HSP pathogenesis. To confirm, we performed whole exome sequencing, copy number variant assays, dynamic mutation analysis of the entire family, and protein structure prediction. The variant identified in this study was in the coupling domain, and this is the first corroborated report assigning ITPR1 variants to HSP. These findings expand the clinical and genetic spectrum of HSP and provide important data for its genetic analysis and diagnosis

Pre-Late Eocene position of the Lüchun-Jinping microblock in western Yangtze Craton: constraints from Eocene-Oligocene lamprophyres in southeastern Tibet

The tectono-magmatic history of the Lüchun-Jinping microblock and its possible affinity with the Yangtze Craton are important elements for the reconstruction of Cenozoic plate tectonics in southeastern Tibet. In order to constrain the affinity and decipher the pre-Cenozoic paleopositon of the Lüchun-Jinping microblock, we focused on the petrogenesis of Eocene-Oligocene lamprophyres in the Lüchun-Jinping microblock. The lamprophyres yield zircon Usingle bondPb ages of 34.7–33.3 Ma and exhibit potassic-ultrapotassic features with elevated K2O/Na2O (1.4–4.0) ratios. They are characterized by high concentrations of compatible elements (e.g., Cr = 187–692 ppm, Ni = 31–218 ppm), large-ion-lithophile elements and light rare-earth elements enrichment, high-field-strength elements depletion, and high radiogenic isotopic values, i.e. (87Sr/86Sr)i = 0.7063–0.7078 and εNd(t) = −3.9 to −2.4. Combined with the low Nb/U ratios, these features suggest that the lithospheric mantle source was metasomatized by subduction-related fluids beneath the Lüchun-Jinping microblock. The relatively high Rb/Sr ratios and high heavy rare-earth element contents indicate that these lamprophyres were derived from partial melting of a phlogopite-bearing lherzolite within the spinel stability field. The parental magmas have experienced fractional crystallization of olivine and clinopyroxene during emplacement. Comprehensive comparisons between the lamprophyres from the Lüchun-Jinping microblock and the potassic-ultrapotassic mafic rocks from the western Yangtze Craton indicate that the Lüchun-Jinping microblock can be regarded as a dismembered part of the western Yangtze Craton due to continental extrusion and Cenozoic sinistral displacement. The compositional trends of the potassic-ultrapotassic mafic rocks suggest that the palaeogeographic position of the Lüchun-Jinping microblock was near the Dali area (west of the Binchuan) and close to the Jinshajiang suture zone before the Cenozoic

Association between a metabolic score for insulin resistance and hypertension: results from National Health and Nutrition Examination Survey 2007–2016 analyses

BackgroundThe Metabolic Score for Insulin Resistance (METS-IR) offers a promising and reliable non-insulin-based approach to assess insulin resistance and evaluate cardiometabolic risk. However, evidence for the association between METS-IR and hypertension was still limited.MethodsParticipants from the National Health and Nutrition Examination Survey (NHANES) database from 2007-2016 were selected for weighted multivariable regression analyses, subgroup analyses and restricted cubic spline (RCS) modeling to assess the association between the METS-IR and hypertension, as well as systolic blood pressure (SBP) and diastolic blood pressure (DBP).ResultsThis study enrolled 7,721 adults aged ≥20 years, 2,926 (34.03%) of whom was diagnosed as hypertension. After adjusting for all potential covariates, an increased METS-IR (log2 conversion, denoted as log2METS-IR) was independently associated with a higher prevalence of hypertension (odd ratio [OR] 3.99, 95% confidence interval [CI] 3.19~5.01). The OR for hypertension in subjects with the highest quartile of METS-IR was 3.89-fold (OR 3.89, 95% CI 3.06~4.94) higher than that in those with the lowest quartile of METS-IR. This positive correlation became more significant as METS-IR increased (p for trend < 0.001). Log2METS-IR was significantly correlated with increase in SBP (β 6.75, 95% CI 5.65~7.85) and DBP (β 5.59, 95% CI 4.75~6.43) in a fully adjusted model. Consistent results were obtained in subgroup analyses. Hypertension, SBP and DBP all exhibited a non-linear increase with the rise in METS-IR. The minimal threshold for the beneficial association of METS-IR with hypertension, SBP and DBP were all identified to be 46.88.ConclusionThe findings of this study revealed a significant positive association between METS-IR and hypertension among US adults, suggesting METS-IR as a potential tool for assessing hypertension risk

Analysis of isoquinoline alkaloids using chitosanâ assisted liquidâ solid extraction followed by microemulsion liquid chromatography employing a subâ 2â micron particle stationary phase

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/135437/1/elps5986.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/135437/2/elps5986_am.pd

General Self-Efficacy Mediates the Effect of Family Socioeconomic Status on Critical Thinking in Chinese Medical Students

Background: Critical thinking (CT) is an essential competence for medical students. Family socioeconomic status (family SES) and general self-efficacy (GSE) play crucial roles in the development of CT. However, the association among family SES, GSE, and CT in Chinese medical students has yet to be fully investigated.Objectives: To investigate the role of family SES and GSE in the development of CT in Chinese medical students.Methods: 1,338 medical students were recruited using multistage stratified cluster sampling from three institutions in China. The Chinese critical thinking disposition inventory (CTDI-CV), General Self-Efficacy Scale (GSES), and a self-made inventory assessing family SES were administered to collect data. The relationship between CT and family SES as well as GSE was evaluated by structural equation modeling.Results: Students of higher family SES obtained higher CTDI-CV and GSES scores. A positive correlation was found between family SES and CT (r = 0.101–0.141, p < 0.05 or p < 0.01), as well as between family SES and GSE (r = 0.111–0.129, p < 0.01). Moreover, GSE was moderately correlated with CT (r = 0.418, p < 0.01). The model of partial mediate effect of GSE showed the best fit index with X2 = 29.698, df = 9 and X2/df = 3.300, NFI = 0.990, IFI = 0.993, TLI = 0.984, CFI = 0.993, RMSEA = 0.041.Conclusion: Family SES has a positive albeit limited influence on GSE and CT in Chinese medical students. GSE mediates the effect of family SES on CT and plays a larger role. Enhancing medical student’ GSE maybe an efficacious way to improve medical students’ CT

Experimental and Numerical Analysis of High-Resolution Injection Technique for Capillary Electrophoresis Microchip

This study presents an experimental and numerical investigation on the use of high-resolution injection techniques to deliver sample plugs within a capillary electrophoresis (CE) microchip. The CE microfluidic device was integrated into a U-shaped injection system and an expansion chamber located at the inlet of the separation channel, which can miniize the sample leakage effect and deliver a high-quality sample plug into the separation channel so that the detection performance of the device is enhanced. The proposed 45° U-shaped injection system was investigated using a sample of Rhodamine B dye. Meanwhile, the analysis of the current CE microfluidic chip was studied by considering the separation of Hae III digested ϕx-174 DNA samples. The experimental and numerical results indicate that the included 45° U-shaped injector completely eliminates the sample leakage and an expansion separation channel with an expansion ratio of 2.5 delivers a sample plug with a perfect detection shape and highest concentration intensity, hence enabling an optimal injection and separation performance

Management of granulomatous lobular mastitis: an international multidisciplinary consensus (2021 edition)

Granulomatous lobular mastitis (GLM) is a rare and chronic benign inflammatory disease of the breast. Difficulties exist in the management of GLM for many front-line surgeons and medical specialists who care for patients with inflammatory disorders of the breast. This consensus is summarized to establish evidence-based recommendations for the management of GLM. Literature was reviewed using PubMed from January 1, 1971 to July 31, 2020. Sixty-six international experienced multidisciplinary experts from 11 countries or regions were invited to review the evidence. Levels of evidence were determined using the American College of Physicians grading system, and recommendations were discussed until consensus. Experts discussed and concluded 30 recommendations on historical definitions, etiology and predisposing factors, diagnosis criteria, treatment, clinical stages, relapse and recurrence of GLM. GLM was recommended as a widely accepted definition. In addition, this consensus introduced a new clinical stages and management algorithm for GLM to provide individual treatment strategies. In conclusion, diagnosis of GLM depends on a combination of history, clinical manifestations, imaging examinations, laboratory examinations and pathology. The approach to treatment of GLM should be applied according to the different clinical stage of GLM. This evidence-based consensus would be valuable to assist front-line surgeons and medical specialists in the optimal management of GLM.Improving the Ability of Diagnosis and Treatment of Difficult Disease

Advances in reforming and partial oxidation of hydrocarbons for hydrogen production and fuel cell applications

One of the most attractive routes for the production of hydrogen or syngas for use in fuel cell applications is the reforming and partial oxidation of hydrocarbons. The use of hydrocarbons in high temperature fuel cells is achieved through either external or internal reforming. Reforming and partial oxidation catalysis to convert hydrocarbons to hydrogen rich syngas plays an important role in fuel processing technology. The current research in the area of reforming and partial oxidation of methane, methanol and ethanol includes catalysts for reforming and oxidation, methods of catalyst synthesis, and the effective utilization of fuel for both external and internal reforming processes. In this paper the recent progress in these areas of research is reviewed along with the reforming of liquid hydrocarbons, from this an overview of the current best performing catalysts for the reforming and partial oxidizing of hydrocarbons for hydrogen production is summarized

Prevalence and trend of hepatitis C virus infection among blood donors in Chinese mainland: a systematic review and meta-analysis

<p>Abstract</p> <p>Background</p> <p>Blood transfusion is one of the most common transmission pathways of hepatitis C virus (HCV). This paper aims to provide a comprehensive and reliable tabulation of available data on the epidemiological characteristics and risk factors for HCV infection among blood donors in Chinese mainland, so as to help make prevention strategies and guide further research.</p> <p>Methods</p> <p>A systematic review was constructed based on the computerized literature database. Infection rates and 95% confidence intervals (95% CI) were calculated using the approximate normal distribution model. Odds ratios and 95% CI were calculated by fixed or random effects models. Data manipulation and statistical analyses were performed using STATA 10.0 and ArcGIS 9.3 was used for map construction.</p> <p>Results</p> <p>Two hundred and sixty-five studies met our inclusion criteria. The pooled prevalence of HCV infection among blood donors in Chinese mainland was 8.68% (95% CI: 8.01%-9.39%), and the epidemic was severer in North and Central China, especially in Henan and Hebei. While a significant lower rate was found in Yunnan. Notably, before 1998 the pooled prevalence of HCV infection was 12.87% (95%CI: 11.25%-14.56%) among blood donors, but decreased to 1.71% (95%CI: 1.43%-1.99%) after 1998. No significant difference was found in HCV infection rates between male and female blood donors, or among different blood type donors. The prevalence of HCV infection was found to increase with age. During 1994-1995, the prevalence rate reached the highest with a percentage of 15.78% (95%CI: 12.21%-19.75%), and showed a decreasing trend in the following years. A significant difference was found among groups with different blood donation types, Plasma donors had a relatively higher prevalence than whole blood donors of HCV infection (33.95% <it>vs </it>7.9%).</p> <p>Conclusions</p> <p>The prevalence of HCV infection has rapidly decreased since 1998 and kept a low level in recent years, but some provinces showed relatively higher prevalence than the general population. It is urgent to make efficient measures to prevent HCV secondary transmission and control chronic progress, and the key to reduce the HCV incidence among blood donors is to encourage true voluntary blood donors, strictly implement blood donation law, and avoid cross-infection.</p