Background: Bryant-Li-Bhoj neurodevelopmental syndrome (BLBS) is neurogenetic disorder caused by variants in and the two genes that encode the histone H3.3 protein. Ninety-nine percent of individuals with BLBS show developmental delay/intellectual disability, but the mechanism by which variants in H3.
View Article and Find Full Text PDFBryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].
View Article and Find Full Text PDFNitric oxide (NO), a free radical labile gas, is involved in the regulation of various biological functions and physiological processes during animal reproduction. Recently, increasing evidence suggests that the biological role and chemical fate of NO is dependent on dynamic regulation of its biosynthetic enzyme, three distinct nitric oxide synthase (NOS) according to their structure, location and function. The impact of NOS isoforms on reproductive functions need to be timely elucidated.
View Article and Find Full Text PDFBackground: The prognostic value of cytokeratin 19 fragment (CYFRA 21 - 1) and Ki67 in advanced non-small cell lung cancer (NSCLC) patients with wild-type epidermal growth factor receptor (EGFR) remains to be explored.
Methods: In this study, 983 primary NSCLC patients from January 2016 to December 2019 were retrospectively reviewed. Finally, 117 advanced NSCLC patients with wild-type EGFR and 37 patients with EGFR mutation were included and prognostic value of CYFRA 21 - 1 and Ki67 were also identified.
Background: Standardized chemotherapy for breast cancer can improve the survival of patients, but during the process, it is accompanied by a variety of symptoms.
Objective: To explore the dynamic changes of symptoms and quality of life in breast cancer patients at different time points during chemotherapy, and to explore the correlation with quality of life.
Method: A prospective study method was used to collect 120 breast cancer patients undergoing chemotherapy as the research objects.
Background: The incidence of magnet ingestion by children has recently increased in China. Magnet ingestion is associated with an extremely high risk of gastrointestinal damage because loops of bowel can become trapped and squeezed between multiple magnets in different locations. However, the lack of imaging sensitivity makes clinical decision-making difficult.
View Article and Find Full Text PDFTo study the soil consolidation effect of shrub plant roots on tailings soil and to explore the frictional characteristics of plant roots on tailings soil, three experimental conditions of the root-soil interface were established by using a modified indoor direct shear instrument with binders such as liquid sodium silicate and cyanoacrylate to conduct direct shear frictional tests at the root-soil interface using the roots of the typical slope protection plant Amorpha fruticosa. The Gompertz improved curve model was established by using the relationship between shear stress and shear displacement and the trend of the root-soil interface parameter index. The results were compared between the improved Gompertz curve model and the Clough-Duncan hyperbolic model, and a two-factor coupled improved Gompertz interfacial intrinsic structure model with normal stress and cohesive strength factor was established.
View Article and Find Full Text PDFObjectives: This study aimed to investigate the diagnostic value of ultrasound in children with perforation of congenital choledochal cysts.
Methods: Eligible patients recruited from January 2004 to December 2018 in our hospital were enrolled in this retrospective study. A total of 59 cases of congenital choledochal cysts with perforation were defined as the perforation group, and 100 cases of congenital choledochal cysts without perforation with similar symptoms were defined as the control group.
In this paper, we investigate the relationship between the air pollution and tuberculosis cases and its prediction in Jiangsu, China by using the time-series analysis method, and find that the seasonal ARIMA(1, 1, 0)×(0, 1, 1) model is the preferred model for predicting the TB cases in Jiangsu, China. Furthermore, we evaluate the relationship between AQI, PM2.5, PM10 and the number of TB cases, and find that the prediction accuracy of the ARIMA model is improved by adding monthly PM2.
View Article and Find Full Text PDFPediatr Radiol
December 2019
Background: Ultrasonography (US) has been widely applied and has validated efficacy in the diagnosis of colonic polyps in children. However, little attention has been paid to improving the detection rate of polyps, optimizing the ultrasonic examination process and reducing misdiagnosis.
Objective: To investigate the diagnostic performance of the colonic segment-approach by US in the diagnosis of colonic polyps in pediatric patients.
Zhongguo Ying Yong Sheng Li Xue Za Zhi
February 2019
Objective: To investigate the effects of aerobic exercise and glutamine (Gln) on anti-oxidative stress and inflammatory factors in type 2 diabetes mellitus (T2MD) rats.
Methods: Diabetic rat model was induced by streptozotocin (STZ). Fifty 6-week old male SD rats were randomly divided into 5 groups (n=10), including quiet control group (N), diabetes control group (D), diabetic aerobic exercise group (DE), diabetic glutamine group (DG) and diabetic aerobic exercise glutamine group (DEG).
Y chromosomal short tandem repeat (Y-STR) typing is the most commonly used genetic technique in forensic studies. However, there may be a limit to the application of Y-STR in forensic science as Y-STR loci are subject to loss or variation caused by the higher chromosomal structures' spontaneous mutation rate. Located in the long arm of the Y chromosome, azoospermia factor (AZF) have been shown to participate in spermatogenesis and its deletion could cause infertility.
View Article and Find Full Text PDFIncreases in drought frequency and intensity under climate change will have great impacts on the carbon cycle of forest ecosystems. Understanding the responses of soil respiration and its temperature sensitivity to drought is necessary, when we assess whether soil is a carbon sink or source. The effects of litterfall input on soil respiration, temperature sensitivity and its lagging effect were studied in moso bamboo forests under simulated drought by ceiling method in the field with three litterfall treatments, i.
View Article and Find Full Text PDFJ Neuroinflammation
January 2018
Background: Chemokine CXC receptor 4 (CXCR4) in spinal glial cells has been implicated in neuropathic pain. However, the regulatory cascades of CXCR4 in neuropathic pain remain elusive. Here, we investigated the functional regulatory role of miRNAs in the pain process and its interplay with CXCR4 and its downstream signaling.
View Article and Find Full Text PDFYing Yong Sheng Tai Xue Bao
July 2016
Grazing disturbance is one of the ways to influence plant traits, and plant leaf traits actually reflect the adaptability of plants to the environment. In this study, taking Stipa krylovii steppe under different grazing intensities in Hulunbuir as research area, the relationships of leaf traits and the variation of plant traits among plant life-form functional groups was investigated. Results showed that plant traits with different life-forms had no significant difference in S.
View Article and Find Full Text PDFImmunoassays greatly contribute to veterinary drug residue analysis. However, there are few reports on detecting neomycin residues by immunoassay. Here, a rapid and sensitive chemiluminescent enzyme immunoassay (CLIEA) was successfully developed for neomycin residue analysis.
View Article and Find Full Text PDFThe precipitation exiguity and water deficiency are the major factors limiting crop growth in dry farming regions of northern China. Dual-mulching of ridges and furrows, which have been widely concerned both domestically and internationally, could increase the utilization efficiency of precipitation and crop yield. In this paper, we reviewed the concept and model of dual-mulching of ridges and furrows, its supporting farm machinery and implements as well as its ecological effects on soil and crops.
View Article and Find Full Text PDFBackground And Purpose: The aim of this study was to identify the clinical characteristics and potential mechanisms relevant to pathological proteins in Parkinson's disease (PD) patients who experience fatigue.
Methods: PD patients (n=102) were evaluated using a fatigue severity scale and scales for motor and nonmotor symptoms. The levels of three pathological proteins-α-synuclein oligomer, β-amyloid (Aβ)₁₋₄₂, and tau-were measured in 102 cerebrospinal fluid (CSF) samples from these PD patients.