Your browser doesn't support javascript.
loading
: 20 | 50 | 100
1 - 20 de 38
1.
Oncol Lett ; 28(2): 351, 2024 Aug.
Article En | MEDLINE | ID: mdl-38872860

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants of the SDH gene. SDH mutations are associated with an increased risk of developing RCC, although studies describing SDH-deficient RCC are currently limited. The present study reported a case of SDH-deficient RCC with high malignancy and rare bone metastasis. The patient was diagnosed with a right renal mass through B-mode ultrasound imaging and showed a carcinoma embolus in the right renal vein and inferior vena cava through kidney contrast-enhanced computed tomography. A whole-body bone scan showed radionuclide accumulation in the upper end of the left humerus, which indicated possible pathological bone destruction. As a result, surgical resection was performed. The postoperative pathology indicated a high-grade RCC and although the specific classification remained uncertain, hereditary leiomyomatosis and RCC was suspected. Subsequently, a germline mutation of the succinate dehydrogenase complex flavoprotein subunit A gene was identified through high-throughput sequencing (c.1A>G, p. Met1?) and immunohistochemistry demonstrated the loss of succinate dehydrogenase complex flavoprotein subunit B expression. Postoperatively, the patient underwent radiotherapy and targeted therapy. After 6 months of follow-up treatment, there was no indication of recurrence or metastasis on thoracoabdominal CT and whole-body bone scintigraphy. Based on the present report, germline screening should potentially be encouraged in early-onset patients as family history or pathological results may not provide sufficient information for the early, differential diagnosis of SDH-deficient RCC.

2.
Neurologist ; 2024 Apr 11.
Article En | MEDLINE | ID: mdl-38602912

OBJECTIVE: To investigate the early prediction value of transcranial Doppler ultrasound (TCD) combined with serum melatonin level for delayed cerebral ischemia (DCI) caused by subarachnoid hemorrhage (SAH). METHODS: This paper is a prospective study. A total of 120 patients with SAH treated were included. The patients were divided into the DCI group (40 cases) and non-DCI group (80 cases) according to whether DCI occurred 14 days after SAH (DCI usually occurs 4 to 14 d after bleeding). Baseline data, serum melatonin level, and TCD test results within 24 hours after admission were compared between the 2 groups. Multivariate logistic analysis was used to analyze the factors affecting the occurrence of DCI after SAH. The value of serum melatonin level, middle cerebral artery mean blood flow velocity (MBFV) and their combination in predicting DCI in SAH patients was evaluated. RESULTS: Univariate analysis showed that there were statistically significant differences in the proportion of Fisher grade, Hunt-Hess grade, serum melatonin level, middle cerebral artery systolic blood flow velocity (Vs), MBFV and pulse index (PI) between the 2 groups (P<0.05). Serum melatonin levels, middle cerebral artery Vs, MBFV, and PI in the DCI group were higher than those in non-DCI group. Logistic regression (LR) analysis showed that serum melatonin level (OR=1.796, 95% CI: 1.575-4.123) and middle cerebral artery MBFV (OR=3.279, 95% CI: 2.112-4.720] were the influencing factors for DCI in SAH patients (P<0.05). CONCLUSION: Middle cerebral artery MBFV and serum melatonin levels were higher in patients with SAH complicated with DCI, and the combination of the 2 could provide a reference for early clinical prediction of DCI in patients with aneurysmal subarachnoid hemorrhage (aSAH).

3.
Lipids Health Dis ; 23(1): 122, 2024 Apr 27.
Article En | MEDLINE | ID: mdl-38678208

BACKGROUND: Previous studies have demonstrated that trans fatty acids (TFAs) intake was linked to an increased risk of chronic diseases. As a novel systemic inflammatory biomarker, the clinical value and efficacy of the systemic immune-inflammation index (SII) have been widely explored. However, the association between TFAs and SII is still unclear. Therefore, the study aims to investigate the connection between TFAs and SII in US adults. METHODS: The study retrieved data from the National Health and Nutrition Examination Survey (NHANES) for the years 1999-2000 and 2009-2010. Following the exclusion of ineligible participants, the study encompassed a total of 3047 individuals. The research employed a multivariate linear regression model to investigate the connection between circulating TFAs and SII. Furthermore, the restricted cubic spline (RCS) model was utilized to evaluate the potential nonlinear association. Subgroup analysis was also conducted to investigate the latent interactive factors. RESULTS: In this investigation, participants exhibited a mean age of 47.40 years, with 53.91% of them being female. Utilizing a multivariate linear regression model, the independent positive associations between the log2-transformed palmitelaidic acid, the log2 transformed-vaccenic acid, the log2-transformed elaidic acid, the log2-transformed linolelaidic acid, and the log2-transformed-total sum of TFAs with the SII (all P < 0.05) were noted. In the RCS analysis, no nonlinear relationship was observed between the log2-transformed palmitelaidic acid, the log2 transformed-vaccenic acid, the log2-transformed elaidic acid, the log2-transformed linolelaidic acid, the log2-transformed-total sum of TFAs and the SII (all P for nonlinear > 0.05). For the stratified analysis, the relationship between the circulating TFAs and the SII differed by the obesity status and the smoking status. CONCLUSIONS: A positive association was investigated between three types of TFA, the sum of TFAs, and the SII in the US population. Additional rigorously designed studies are needed to verify the results and explore the potential mechanism.


Inflammation , Trans Fatty Acids , Humans , Trans Fatty Acids/blood , Female , Middle Aged , Male , Cross-Sectional Studies , Adult , Inflammation/blood , Inflammation/immunology , Nutrition Surveys , Oleic Acids , Linear Models , Biomarkers/blood
4.
Stem Cell Rev Rep ; 2024 Mar 19.
Article En | MEDLINE | ID: mdl-38502291

BACKGROUND: Cellular senescence is an important process related to the pathogenic mechanism of different disorders, especially bone loss. During senescence, bone marrow stromal cells (BMSCs) lose their self-renewal and functional differentiation abilities. Therefore, finding signals opposing the osteogenic differentiation of BMSCs within bone marrow microenvironment is the important for elucidating these above-mentioned mechanisms. Inflammatory cytokines affect bone physiology and remodeling. However, the function of interleukin-19 (IL-19) in skeletal system remains unclear. METHODS: The mouse model of IL-19 knockout was established through embryonic stem cell injection for analyzing how IL-19 affected bone formation. Micro-CT examinations were performed to evaluate bone microstructures. We performed a three-point bending test to measure bone stiffness and the ultimate force. Antibody arrays were performed to detect interleukin family members in bone marrow aspirates. BMSCs were cultured and induced for osteogenic differentiation. RESULTS: According to our findings, there was increased IL-19 accumulation within bone marrow in old mice relative to that in their young counterparts, resulting in bone loss via the inhibition of BMSCs osteogenic differentiation. Among Wnt/ß-catenin pathway members, IL-19 strongly upregulated sFRP1 via STAT3 phosphorylation. The inhibition of STAT3 and sFRP1 abolished IL-19's inhibition against the BMSCs osteogenic differentiation. CONCLUSION: To sum up, IL-19 inhibited BMSCs osteogenic differentiation in old mice. Our findings shed novel lights on pathogenic mechanism underlying age-related bone loss and laid a foundation for further research on identifying novel targets to treat senile osteoporosis.

5.
Medicine (Baltimore) ; 103(9): e37326, 2024 Mar 01.
Article En | MEDLINE | ID: mdl-38428856

BACKGROUND: Hashimoto thyroiditis (HT) is a common autoimmune thyroid disease for which there is no specific treatment. Oral levothyroxine sodium tablets significantly improved thyroid function but did not promote a reduction in thyroid-related antibody concentrations. Acupuncture can improve clinical symptoms and thyroid function in HT patients, reduce serum TPOAb and TGAb levels in HT patients, and improve patients' quality of life. METHODS: We conducted a systematic review and meta-analysis to evaluate the effect of acupuncture versus levothyroxine sodium tablets on Hashimoto thyroiditis. We searched Web of Science, Embase, China National Knowledge Infrastructure, WanFang, VIP, SinoMed and the Cochrane Central Registry of Controlled Trials to identify candidate randomized controlled trials (RCTs). RESULTS: A total of 1020 patients participated in 14 randomized controlled trials. The results of meta-analysis showed that acupuncture regulated TPOAb content (mean difference [MD] = -63.18, 95%CI = -91.73 to -34.62, P < .00001), TGAb content (MD = -68.56, 95%CI = -101.55 to -35.57, P < .00001), serum free triiodothyronine (FT3) content (MD = 0.74, 95%CI = 0.20 to 1.27, P < .00001), serum free thyroxine (FT4) content (MD = 1.10, 95%CI = 0.29 to 1.92, P < .00001), TSH content (MD = -2.16, 95%CI = -3.14 to -1.19, P < .00001) had a significant effect. CONCLUSION: Compared with levothyroxine sodium tablets alone, acupuncture can significantly regulate the contents of TPOAb, TGAb, FT3, FT4 and TSH.


Acupuncture Therapy , Hashimoto Disease , Humans , Hashimoto Disease/drug therapy , Thyroxine/therapeutic use , Thyroid Hormones , Thyrotropin
6.
World J Clin Cases ; 12(4): 859-864, 2024 Feb 06.
Article En | MEDLINE | ID: mdl-38322697

BACKGROUND: Mediastinal emphysema is a condition in which air enters the mediastinum between the connective tissue spaces within the pleura for a variety of reasons. It can be spontaneous or secondary to chest trauma, esophageal perforation, medically induced factors, etc. Its common symptoms are chest pain, tightness in the chest, and respiratory distress. Most mediastinal emphysema patients have mild symptoms, but severe mediastinal emphysema can cause respiratory and circulatory failure, resulting in serious consequences. CASE SUMMARY: A 75-year-old man, living alone, presented with sudden onset of severe epigastric pain with chest tightness after drinking alcohol. Due to the remoteness of his residence and lack of neighbors, the patient was found by his nephew and brought to the hospital the next morning after the disease onset. Computed tomography (CT) showed free gas in the abdominal cavity, mediastinal emphysema, and subcutaneous pneumothorax. Upper gastrointestinal angiography showed that the esophageal mucosa was intact and the gastric antrum was perforated. Therefore, we chose to perform open gastric perforation repair on the patient under thoracic epidural anesthesia combined with intravenous anesthesia. An operative incision of the muscle layer of the patient's abdominal wall was made, and a large amount of subperitoneal gas was revealed. And a continued incision of the peritoneum revealed the presence of a perforation of approximately 0.5 cm in the gastric antrum, which we repaired after pathological examination. Postoperatively, the patient received high-flow oxygen and cough exercises. Chest CT was performed on the first and sixth postoperative days, and the mediastinal and subcutaneous gas was gradually reduced. CONCLUSION: After gastric perforation, a large amount of free gas in the abdominal cavity can reach the mediastinum through the loose connective tissue at the esophageal hiatus of the diaphragm, and upper gastrointestinal angiography can clarify the site of perforation. In patients with mediastinal emphysema, open surgery avoids the elevation of the diaphragm caused by pneumoperitoneum compared to laparoscopic surgery and avoids increasing the mediastinal pressure. In addition, thoracic epidural anesthesia combined with intravenous anesthesia also avoids pressure on the mediastinum from mechanical ventilation.

7.
Aging Dis ; 2024 Jan 12.
Article En | MEDLINE | ID: mdl-38300634

With increasing age, there is a notable increase in the differentiation of bone marrow-derived mononuclear cells (BMMs) into osteoclasts, accompanied by a concurrent rise in both osteoclast quantity and activity. This escalation in osteoclastic activity accelerates bone resorption, which in turn contributes to age-related bone loss and metabolic bone disorders, notably osteoporosis. Our study confirms that elevated IL-19 expression promotes aging-induced bone loss in aged mice and sheds light on the regulatory mechanisms upstream of IL-19 expression and secretion. Primarily, it is the methylation status of the IL-19 gene's promoter region that impacts Atonal BHLH Transcription Factor 1 (Atoh1)'s ability to bind to the promoter. We found that this specific mechanism involves reduced expression and binding affinity of Dnmt1 to the IL-19 promoter region. The findings of our study suggest that targeting IL-19 could be a potential strategy for managing bone loss-related conditions and enhance the current understanding of how DNA methylation levels contribute to age-related bone loss.

8.
World Neurosurg ; 186: e48-e53, 2024 06.
Article En | MEDLINE | ID: mdl-38310949

OBJECTIVE: To explore the predictive value of transcranial Doppler ultrasound (TCD) combined with quantitative electroencephalogram (QEEG) in delayed cerebral ischemia (DCI) caused by aneurysmal subarachnoid hemorrhage (aSAH). METHODS: The participants were 105 patients with aSAH treated from June 2020 to December 2022. Patients were divided into DCI group (n = 34) and non-DCI group (n = 71) according to the presence of DCI 14 days after onset. Further comparison was conducted on the baseline data as well as the parameters of QEEG and TCD within 24 hours after admission. Multivariate logistic analysis was performed to investigate risk factors related to DCI within 14 days of admission in aSAH patients. RESULTS: There were significant differences in the comparison of the proportion of Hunt-Hess grading, relative δ power (RDP), relative α power (RAP), relative α/ß power ratio (ADR), as well as peak systolic velocity (Vs), mean blood flow velocity (MBFV) and pulsatility index (PI) of middle cerebral artery between the two groups (P < 0.05). Furthermore, Logistic regression analysis revealed that ADR (odds ratio 1.668, 95% CI 1.369-4.345) and MBFV of middle cerebral artery (odds ratio 3.279, 95% CI 2.332-6.720) were risk factors for the occurrence of DCI in aSAH patients (P < 0.05). In addition, evaluation of the predictive value revealed that combined use of the 2 indicators showed the highest predictive value (area under the curve 0.959, 95% CI 0.896-0.993). CONCLUSIONS: Patients with aSAH complicated by DCI have relatively higher MBFV of middle cerebral artery and ADR. Combined use of the 2 indicators can provide reference for early prediction of DCI in aSAH patients.


Brain Ischemia , Electroencephalography , Predictive Value of Tests , Subarachnoid Hemorrhage , Ultrasonography, Doppler, Transcranial , Humans , Subarachnoid Hemorrhage/complications , Subarachnoid Hemorrhage/diagnostic imaging , Subarachnoid Hemorrhage/physiopathology , Ultrasonography, Doppler, Transcranial/methods , Male , Female , Middle Aged , Brain Ischemia/diagnostic imaging , Brain Ischemia/etiology , Brain Ischemia/physiopathology , Electroencephalography/methods , Aged , Adult , Middle Cerebral Artery/diagnostic imaging , Retrospective Studies , Blood Flow Velocity/physiology
9.
Bone Joint Res ; 12(11): 691-701, 2023 Nov 03.
Article En | MEDLINE | ID: mdl-37918438

Aims: Osteoporosis is characterized by decreased trabecular bone volume, and microarchitectural deterioration in the medullary cavity. Interleukin-19 (IL-19), a member of the IL-10 family, is an anti-inflammatory cytokine produced primarily by macrophages. The aim of our study was to investigate the effect of IL-19 on osteoporosis. Methods: Blood and femoral bone marrow suspension IL-19 levels were first measured in the lipopolysaccharide (LPS)-induced bone loss model. Small interfering RNA (siRNA) was applied to knock down IL-19 for further validation. Thereafter, osteoclast production was stimulated with IL-19 in combination with mouse macrophage colony-stimulating factor (M-CSF) and receptor activator of nuclear factor-κB ligand (RANKL). The effect of IL-19 was subsequently evaluated using tartrate-resistant acid phosphatase (TRAP) staining and quantitative real-time polymerase chain reaction (RT-qPCR). The effect of IL-19 on osteoprotegerin (OPG) was then assessed using in vitro recombinant IL-19 treatment of primary osteoblasts and MLO-Y4 osteoblast cell line. Finally, transient transfection experiments and chromatin immunoprecipitation (ChIP) experiments were used to examine the exact mechanism of action. Results: In the LPS-induced bone loss mouse model, the levels of IL-19 in peripheral blood serum and femoral bone marrow suspension were significantly increased. The in vivo results indicated that global IL-19 deletion had no significant effect on RANKL content in the serum and bone marrow, but could increase the content of OPG in serum and femoral bone marrow, suggesting that IL-19 inhibits OPG expression in bone marrow mesenchymal stem cells (BMSCs) and thus increases bone resorption. Conclusion: IL-19 promotes bone resorption by suppressing OPG expression in BMSCs in a LPS-induced bone loss mouse model, which highlights the potential benefits and side effects of IL-19 for future clinical applications.

10.
Front Immunol ; 14: 1213473, 2023.
Article En | MEDLINE | ID: mdl-37809091

Diabetic kidney disease (DKD) is a chronic inflammatory condition that affects approximately 20-40% of individuals with diabetes. Sodium-glucose co-transporter 2 (SGLT-2) inhibitors, emerging as novel hypoglycemic agents, have demonstrated significant cardiorenal protective effects in patients with DKD. Initially, it was believed that the efficacy of SGLT-2 inhibitors declined as the estimated glomerular filtration rate (eGFR) decreased, which led to their preferential use in DKD patients at G1-G3 stages. However, recent findings from the DAPA-CKD and EMPA-KIDNEY studies have revealed equally beneficial cardiorenal effects of SGLT-2 inhibitors in individuals at stage G4 DKD, although the underlying mechanism behind this phenomenon remains unclear. In this comprehensive analysis, we provide a systematic review of the mechanisms and functioning of SGLT-2 inhibitors, potential renal protection mechanisms, and the therapeutic efficacy and safety of SGLT-2 inhibitors in kidney diseases, with a particular focus on stage G4 DKD. Gaining a deeper understanding of the renal protective effect of SGLT-2 inhibitors and their underlying mechanisms is highly significance for the successful utilization of these inhibitors in the treatment of diverse kidney disorders.


Diabetes Mellitus, Type 2 , Diabetic Nephropathies , Sodium-Glucose Transporter 2 Inhibitors , Humans , Sodium-Glucose Transporter 2 Inhibitors/therapeutic use , Diabetic Nephropathies/drug therapy , Diabetic Nephropathies/etiology , Diabetes Mellitus, Type 2/drug therapy , Hypoglycemic Agents/therapeutic use , Hypoglycemic Agents/pharmacology , Kidney
11.
Int J Mol Sci ; 24(17)2023 Aug 31.
Article En | MEDLINE | ID: mdl-37686364

Inflammation is a crucial pathological feature in cancers and kidney diseases, playing a significant role in disease progression. Cyclin-dependent kinases CDK4 and CDK6 not only contribute to cell cycle progression but also participate in cell metabolism, immunogenicity and anti-tumor immune responses. Recently, CDK4/6 inhibitors have gained approval for investigational treatment of breast cancer and various other tumors. Kidney diseases and cancers commonly exhibit characteristic pathological features, such as the involvement of inflammatory cells and persistent chronic inflammation. Remarkably, CDK4/6 inhibitors have demonstrated impressive efficacy in treating non-cancerous conditions, including certain kidney diseases. Current studies have identified the renoprotective effect of CDK4/6 inhibitors, presenting a novel idea and potential direction for treating kidney diseases in the future. In this review, we briefly reviewed the cell cycle in mammals and the role of CDK4/6 in regulating it. We then provided an introduction to CDK4/6 inhibitors and their use in cancer treatment. Additionally, we emphasized the importance of these inhibitors in the treatment of kidney diseases. Collectively, growing evidence demonstrates that targeting CDK4 and CDK6 through CDK4/6 inhibitors might have therapeutic benefits in various cancers and kidney diseases and should be further explored in the future.


Antineoplastic Agents , Kidney Diseases , Neoplasms , Animals , Antineoplastic Agents/pharmacology , Antineoplastic Agents/therapeutic use , Therapies, Investigational , Cell Division , Inflammation , Kidney Diseases/drug therapy , Mammals , Neoplasms/drug therapy
12.
Heliyon ; 9(6): e16769, 2023 Jun.
Article En | MEDLINE | ID: mdl-37303554

By evaluating learners' perceived preferences for the learning environment, we can understand the important characteristics and better improve the learning environment, ultimately to provide great potential for the optimization of teaching practice. Seeing that the current research pays less attention to teachers' and students' preferences for the space environment simultaneously, based on the survey of 1937 undergraduates and 107 teachers from a university in central China, this study aims to explore their preferences for smart learning environment. Based on the ecological theory and research results of the existing learning environment, this paper constructed an ecological model and a conceptual model of learning space preferences. An empirical study was conducted to explore the impact of sociodemographic variables on personal spatial preference. The results showed that teachers and students had a positive attitude towards the smart learning environment, and gender, age, grade, subject category and other variables had limited impact on spatial preference.

13.
Sensors (Basel) ; 23(11)2023 May 30.
Article En | MEDLINE | ID: mdl-37299930

Facial expression recognition (FER) has received increasing attention. However, multiple factors (e.g., uneven illumination, facial deflection, occlusion, and subjectivity of annotations in image datasets) probably reduce the performance of traditional FER methods. Thus, we propose a novel Hybrid Domain Consistency Network (HDCNet) based on a feature constraint method that combines both spatial domain consistency and channel domain consistency. Specifically, first, the proposed HDCNet mines the potential attention consistency feature expression (different from manual features, e.g., HOG and SIFT) as effective supervision information by comparing the original sample image with the augmented facial expression image. Second, HDCNet extracts facial expression-related features in the spatial and channel domains, and then it constrains the consistent expression of features through the mixed domain consistency loss function. In addition, the loss function based on the attention-consistency constraints does not require additional labels. Third, the network weights are learned to optimize the classification network through the loss function of the mixed domain consistency constraints. Finally, experiments conducted on the public RAF-DB and AffectNet benchmark datasets verify that the proposed HDCNet improved classification accuracy by 0.3-3.84% compared to the existing methods.


Facial Recognition , Neural Networks, Computer , Machine Learning , Learning , Facial Expression
14.
Materials (Basel) ; 16(9)2023 Apr 24.
Article En | MEDLINE | ID: mdl-37176213

The surface integrity of ultra-high-strength steel has a significant influence on service performance, and cutting fluid plays an important role in maintaining surface integrity in production. In this paper, the surface integrity of ultra-high-strength steel 45CrNiMoVA was investigated under three cutting fluids: HY-103 (micro-emulsion), TRIM E709 (emulsion), and Vasco 7000 (micro-emulsion) from the aspects of cutting force, surface morphology, residual stress, micro hardness, microstructure, etc. The results showed that the changing trend of the cutting forces in three directions is HY-103 > Vasco 7000 > TRIM E709. The TRIM E709 contains the maximum lubricants, which reduce cutting force and Sa roughness, while the Vasco 7000 contains the minimum corrosive elements, which results in the least pitting. Both tangential and axial stresses under cutting fluid are tensile stresses. TRIM E709 and Vasco 7000 are reduced axially by 4.45% and 7.60% relative to HY-103, respectively. The grain refinement layer depths of HY-103, TRIM E709, and Vasco 7000 are 9 µm, 4 µm, and 8 µm, respectively, and TRIM E709 can induce recrystallized grains to grow along {001} of the sample cross section, which results from the lowest cooling rate. This work may provide an innovative control strategy for cutting fluid to improve surface integrity and service performance.

15.
Spine (Phila Pa 1976) ; 48(17): 1253-1258, 2023 Sep 01.
Article En | MEDLINE | ID: mdl-37141460

STUDY DESIGN: A genetic case-control study. OBJECTIVE: To replicate recently reported genetic loci associated with adolescent idiopathic scoliosis (AIS) in the Chinese Han population, and to determine the relationship between gene expression and the clinical features of the patients. SUMMARY OF BACKGROUND DATA: A recent study conducted in the Japanese population identified several novel susceptible loci, which might provide new insights into the etiology of AIS. However, the association of these genes with AIS in other populations remains unclear. MATERIALS AND METHODS: A total of 1210 AIS and 2500 healthy controls were recruited for the genotyping of 12 susceptibility loci. Paraspinal muscles used for gene expression analysis were obtained from 36 AIS and 36 patients with congenital scoliosis. The difference regarding genotype and allele frequency between patients and controls was analyzed by χ 2 analysis. The t test was performed to compare the target gene expression level between controls and AIS patients. Correlation analysis was performed between gene expression and phenotypic data, including Cobb angle, bone mineral density, lean mass, height, and body mass index. RESULTS: Four SNPs, including rs141903557, rs2467146, rs658839, and rs482012, were successfully validated. Allele C of rs141903557, allele A of rs2467146, allele G of rs658839, and allele T of single nucleotide polymorphism rs482012 showed significantly higher frequency in patients. Allele C of rs141903557, allele A of rs2467146, allele G of rs658839, and allele T of rs482012 could notably increase the risk of AIS patients, with an odds ratio of 1.49, 1.16, 1.11, and 1.25, respectively. Moreover, tissue expression of FAM46A was significantly lower in AIS patients as compared with controls. Moreover, FAM46A expression was remarkably correlated with bone mineral density of patients. CONCLUSION: Four SNPs were successfully validated as novel susceptibility loci associated with AIS in the Chinese population. Moreover, FAM46A expression was associated with the phenotype of AIS patients.


Kyphosis , Polynucleotide Adenylyltransferase , Scoliosis , Humans , Case-Control Studies , East Asian People , Genetic Predisposition to Disease , Genotype , Polymorphism, Single Nucleotide , Scoliosis/diagnosis , Scoliosis/genetics , Scoliosis/epidemiology , Polynucleotide Adenylyltransferase/genetics
16.
PLoS Biol ; 21(3): e3002008, 2023 03.
Article En | MEDLINE | ID: mdl-36862758

Idiopathic scoliosis (IS) is the most common spinal deformity diagnosed in childhood or early adolescence, while the underlying pathogenesis of this serious condition remains largely unknown. Here, we report zebrafish ccdc57 mutants exhibiting scoliosis during late development, similar to that observed in human adolescent idiopathic scoliosis (AIS). Zebrafish ccdc57 mutants developed hydrocephalus due to cerebrospinal fluid (CSF) flow defects caused by uncoordinated cilia beating in ependymal cells. Mechanistically, Ccdc57 localizes to ciliary basal bodies and controls the planar polarity of ependymal cells through regulating the organization of microtubule networks and proper positioning of basal bodies. Interestingly, ependymal cell polarity defects were first observed in ccdc57 mutants at approximately 17 days postfertilization, the same time when scoliosis became apparent and prior to multiciliated ependymal cell maturation. We further showed that mutant spinal cord exhibited altered expression pattern of the Urotensin neuropeptides, in consistent with the curvature of the spine. Strikingly, human IS patients also displayed abnormal Urotensin signaling in paraspinal muscles. Altogether, our data suggest that ependymal polarity defects are one of the earliest sign of scoliosis in zebrafish and disclose the essential and conserved roles of Urotensin signaling during scoliosis progression.


Hydrocephalus , Scoliosis , Urotensins , Animals , Cilia/metabolism , Ependyma/metabolism , Ependyma/pathology , Hydrocephalus/genetics , Hydrocephalus/metabolism , Hydrocephalus/pathology , Scoliosis/genetics , Scoliosis/metabolism , Scoliosis/pathology , Urotensins/metabolism , Zebrafish
17.
Front Chem ; 10: 934203, 2022.
Article En | MEDLINE | ID: mdl-35783214

A novel alternating donor-acceptor polymer PQ1 is designed and synthesized by palladium-catalyzed Stille coupling between quinoxaline as an electron-deficient unit and indacenodithiophene (IDT) as electron-rich groups. Polymer PQ1 presents not only a strong intramolecular charge transfer effect, which is beneficial for the charge transport within single molecules but also a narrow electrochemical band gap and a high highest occupied molecular orbital (HOMO) energy level. In addition, the optical absorption study indicates that the PQ1 film exhibits good aggregation, which is an advantage for the charge transport between neighboring molecules. As a consequence, PQ1 presents p-type semiconductor properties with a high hole mobility of up to 0.12 cm2 V-1 s-1. This study reveals the great potential of quinoxaline-type chromophores in constructing novel organic semiconductors.

18.
Entropy (Basel) ; 24(7)2022 Jul 14.
Article En | MEDLINE | ID: mdl-35885197

As an important task in computer vision, head pose estimation has been widely applied in both academia and industry. However, there remains two challenges in the field of head pose estimation: (1) even given the same task (e.g., tiredness detection), the existing algorithms usually consider the estimation of the three angles (i.e., roll, yaw, and pitch) as separate facets, which disregard their interplay as well as differences and thus share the same parameters for all layers; and (2) the discontinuity in angle estimation definitely reduces the accuracy. To solve these two problems, a THESL-Net (tiered head pose estimation with self-adjust loss network) model is proposed in this study. Specifically, first, an idea of stepped estimation using distinct network layers is proposed, gaining a greater freedom during angle estimation. Furthermore, the reasons for the discontinuity in angle estimation are revealed, including not only labeling the dataset with quaternions or Euler angles, but also the loss function that simply adds the classification and regression losses. Subsequently, a self-adjustment constraint on the loss function is applied, making the angle estimation more consistent. Finally, to examine the influence of different angle ranges on the proposed model, experiments are conducted on three popular public benchmark datasets, BIWI, AFLW2000, and UPNA, demonstrating that the proposed model outperforms the state-of-the-art approaches.

19.
Orphanet J Rare Dis ; 17(1): 247, 2022 06 25.
Article En | MEDLINE | ID: mdl-35752817

BACKGROUND: X-linked early-onset osteoporosis, caused by mutations in plastin3 (PLS3), is an extremely rare disease characterized by low bone mineral density (BMD) and recurrent osteoporotic fractures. There is limited information on genetic and phenotypic spectrum, as well as genotype-phenotype correlations of the disease. Moreover, whether decreased PLS3 levels were also involved in osteoporosis among subjects without PLS3 pathogenic mutations remains unknown. METHODS: Whole-exome sequencing and bidirectional Sanger sequencing were performed for screening and validation of pathogenic mutations. Serum biochemical parameters and clinical information of the subjects were retrospectively collected. ELISA and online datasets were utilized to investigate the association between PLS3 expression and BMD. RESULTS: We identified a novel splicing mutation (c.892-2A > G) which led to the skipping of exon 9 in a family with X-linked early-onset osteoporosis. Scoliosis represents a potential new phenotype in the patients harboring PLS3 mutations, which may be corrected by brace treatment. Genotype-phenotype analysis reveals that there was no significant difference in BMD z-scores between different types of reported mutations including this study (p = 0.5). There is a marginally significant negative correlation between age and BMD z-score (p = 0.059, r = - 0.30). The conditions of osteoporosis in all patients were improved after bisphosphonates therapy, with mean BMD z-score increased from - 2.9 to - 0.57 (p < 0.0001). Serum PLS3 levels in adolescents and adults without PLS3 pathogenic mutations but representing osteoporosis were also evaluated, while no association was found between bone mineral density and PLS3 levels (p > 0.05). CONCLUSIONS: Our findings expanded the mutation and phenotype spectrum of the rare disease and highlights the importance of early diagnosis and early treatment with bisphosphonates. More reports of cases with PLS3 mutation and function studies of the gene are warranted to understand genotype-phenotype correlations.


Membrane Glycoproteins/metabolism , Microfilament Proteins/metabolism , Osteoporosis , Rare Diseases , Adolescent , Bone Density/genetics , Child , Diphosphonates/therapeutic use , Genetic Association Studies , Humans , Membrane Glycoproteins/genetics , Membrane Glycoproteins/therapeutic use , Microfilament Proteins/genetics , Mutation/genetics , Osteoporosis/drug therapy , Osteoporosis/genetics , Rare Diseases/drug therapy , Retrospective Studies
20.
Sensors (Basel) ; 22(4)2022 Feb 10.
Article En | MEDLINE | ID: mdl-35214248

The performance of a facial expression recognition network degrades obviously under situations of uneven illumination or partial occluded face as it is quite difficult to pinpoint the attention hotspots on the dynamically changing regions (e.g., eyes, nose, and mouth) as precisely as possible. To address the above issue, by a hybrid of the attention mechanism and pyramid feature, this paper proposes a cascade attention-based facial expression recognition network on the basis of a combination of (i) local spatial feature, (ii) multi-scale-stereoscopic spatial context feature (extracted from the 3-scale pyramid feature), and (iii) temporal feature. Experiments on the CK+, Oulu-CASIA, and RAF-DB datasets obtained recognition accuracy rates of 99.23%, 89.29%, and 86.80%, respectively. It demonstrates that the proposed method outperforms the state-of-the-art methods in both the experimental and natural environment.


Facial Recognition , Face , Facial Expression , Lighting , Mouth , Photic Stimulation
...