Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 175
Filter
1.
Article in English | MEDLINE | ID: mdl-39088081

ABSTRACT

Previously, we reported our new invention of an ultralight (ρ = 1.61 g/cm3) and super high modulus (E = 64.5 GPa) Mg-Li-Al-Zn-Mn-Gd-Y-Sn (LAZWMVT) alloy. Surprisingly, the minor additions of Sn contribute to significant strength and stiffness increases. In this study, we found that Mg2Sn was not only the simple precipitate but also acted as the glue to bind the α-Mg/ß-Li interface in a rather complicated way. To explore its mechanism, we have performed first-principle calculations and HAADF-STEM experiments on the interfacial structures. It was found that the interfacial structural models of α-Mg/ß-Li, α-Mg/Mg2Sn, and ß-Li/Mg2Sn composite interfaces prefer to form α-Mg/Mg2Sn/ß-Li ternary composite structures due to the stable formation enthalpy (ΔH: -1.95 eV/atom). Meanwhile, the interface cleavage energy and critical cleavage stress show that Mg2Sn contribute to the interfacial bond strength better than the ß-Li/α-Mg phase bond strength (σb(ß-Li/Mg2Sn): 0.82 GPa > σb(α-Mg/Mg2Sn): 0.78 GPa > σb(ß-Li/α-Mg): 0.62 GPa). Based on the interfacial electronic structure analysis, α-Mg/Mg2Sn and ß-Li/Mg2Sn were found to have a denser charge distribution and larger charge transfer at the interface, forming stronger chemical bonds. Additionally, according to the crystal orbital Hamiltonian population analysis, the bonding strength of the Mg-Sn atom pair was 2.61 eV, which was higher than the Mg-Li bond strength (0.39 eV). The effect of the Mg2Sn phase on the stability and interfacial bonding strength of the alloying system was dominated by the formation of stronger and more stable Mg-Sn metal covalent bonds, which mainly originated from the contribution of the Mg 3p-Sn 5p orbital bonding states.

2.
Curr Issues Mol Biol ; 46(7): 6508-6521, 2024 Jun 27.
Article in English | MEDLINE | ID: mdl-39057030

ABSTRACT

Chloroplasts are organelles responsible for photosynthesis in plants, providing energy for growth and development. However, the genetic regulatory mechanisms underlying early chloroplast development in rice remain incompletely understood. In this study, we identified a rice seedling thermosensitive chlorophyll-deficient mutant, osltsa8, and the genetic analysis of two F2 populations suggested that this trait may be controlled by more than one pair of alleles. Through reciprocal F2 populations and QTL-seq technology, OsLTSA8 was mapped to the interval of 24,280,402-25,920,942 bp on rice chromosome 8, representing a novel albino gene in rice. Within the candidate gene region of OsLTSA8, there were 258 predicted genes, among which LOC_Os08g39050, LOC_Os08g39130, and LOC_Os08g40870 encode pentatricopeptide repeat (PPR) proteins. RNA-seq identified 18 DEGs (differentially expressed genes) within the candidate interval, with LOC_Os08g39420 showing homology to the pigment biosynthesis-related genes Zm00001d017656 and Sb01g000470; LOC_Os08g39430 and LOC_Os08g39850 were implicated in chlorophyll precursor synthesis. RT-qPCR was employed to assess the expression levels of LOC_Os08g39050, LOC_Os08g39130, LOC_Os08g40870, LOC_Os08g39420, LOC_Os08g39430, and LOC_Os08g39850 in the wild-type and mutant plants. Among them, the differences in the expression levels of LOC_Os08g39050 and LOC_Os08g39430 were the most significant. This study will contribute to further elucidating the molecular mechanisms of rice chloroplast development.

3.
Rice (N Y) ; 17(1): 39, 2024 Jun 14.
Article in English | MEDLINE | ID: mdl-38874692

ABSTRACT

Improving rice quality remains a crucial breeding objective, second only to enhancing yield, yet progress in quality improvement lags behind yield. The high temperature and ripening conditions in Southern China often result in poor rice quality, impacting hybrid rice production and utilization. Therefore, to address this challenge, analyzing the molecular basis of high-quality traits is essential for molecular design breeding of high-quality hybrid rice varieties. In this study, we investigated the molecular basis of grain shape, amylose content, gel consistency, gelatinization temperature, and aroma, which influence rice quality. We discovered that quality related alleles gs3, GW7TFA, gw8, chalk5, Wxb, ALKTT, and fgr can enhance rice quality when applied in breeding programs. Polymerization of gs3, GW7TFA, gw8, and chalk5 genes improves rice appearance quality. The gs3 and GW7TFA allele polymerization increasing the grain's length-width ratio, adding the aggregation of gw8 allele can further reducing grain width. The chalk5 gene regulates low chalkiness, but low correlation to chalkiness was exhibited with grain widths below 2.0 mm, with minimal differences between Chalk5 and chalk5 alleles. Enhancing rice cooking and eating quality is achieved through Wxb and ALKTT gene polymerization, while introducing the fgr(E7) gene significantly improved rice aroma. Using molecular marker-assisted technology, we aggregated these genes to develop a batch of indica hybrid rice parents with improved rice quality are obtained. Cross-combining these enhanced parents can generate new, high-quality hybrid rice varieties suitable for cultivation in Southern China. Therefore, our findings contribute to a molecular breeding model for grain quality improvement in high-quality indica hybrid rice. This study, along with others, highlights the potential of molecular design breeding for enhancing complex traits, particularly rice grain quality.

4.
World Neurosurg ; 188: 24-34, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38719074

ABSTRACT

OBJECTIVE: Neck pain is a common musculoskeletal disorder, and it affects the quality of life of patients. As an effective and reliable multidimensional measurement tool for neck pain, the Neck Bournemouth Questionnaire (NBQ) has been cross-culturally adapted into multiple languages for clinical practice. The aim of this study was to evaluate the translation procedures and measurement properties of cross-cultural adaptations of the NBQ. METHODS: Searches were conducted in the databases PubMed, Web of Science, Embase and Scopus using the keywords: "the Neck Bournemouth Questionnaire," "NBQ," "cross-cultural," and "adaptation." Methodological quality of cross-cultural adaptation processes and measurement properties were comprehensively assessed by the guidelines for Cross-cultural Adaptation Process of Self-Reporting Measures and the Consensus-based Standards for the Selection of Health Measurement Instruments. RESULTS: There were 12 adaptations of NBQ in 10 different languages, including Dutch, simplified Chinese, and German. Among these studies, 11 adaptations completed all cross-cultural adaptation procedures. However, significant variations existed in the specific implementation plans, particularly regarding translator selection and expert committee composition. Most cross-cultural adaptations reported internal consistency, reliability, and construct validity. Only one study conducted factor analysis and hypothesis testing. Five adaptations examined floor and ceiling effects with one reporting a floor effect. A few studies reported protocol responsiveness and interpretability. CONCLUSIONS: The Dutch, German, and Urdu adaptations demonstrate comparatively higher quality than other adaptations. Further research should comprehensively evaluate the measurement properties of the NBQ in the French, Portuguese-Brazilian, and Turkish adaptations.


Subject(s)
Cross-Cultural Comparison , Neck Pain , Humans , Reproducibility of Results , Surveys and Questionnaires , Translations
5.
J Ovarian Res ; 17(1): 74, 2024 Apr 03.
Article in English | MEDLINE | ID: mdl-38570862

ABSTRACT

OBJECTIVE: To comprehensively evaluate the effect of low birth weight on premature ovarian insufficiency. METHODS: We performed a systematic review of the literature by searching MEDLINE, EMBASE, Web of Science, Scopus, Wanfang and CNKI up to August 2023. All cohort and case-control studies that included birth weight as an exposure and premature ovarian insufficiency as an outcome were included in the analysis. Data were combined using inverse-variance weighted meta-analysis with fixed and random effects models and between-study heterogeneity evaluated. We evaluated risk of bias using the Newcastle Ottawa Scale and using Egger's method to test publication bias. All statistical analyses were performed with the use of R software. RESULTS: Five articles were included in the review. A total of 2,248,594 women were included, including 21,813 (1%) cases of premature ovarian insufficiency, 150,743 cases of low birth weight, and 220,703 cases of macrosomia. We found strong evidence that changed the results of the previous review that low birth weight is associated with an increased risk of premature ovarian insufficiency (OR = 1.15, 95%CI 1.09-1.22) in adulthood compared with normal birth weight. No effect of macrosomia on premature ovarian insufficiency was found. CONCLUSIONS: Our meta-analysis showed strong evidence of an association between low birth weight and premature ovarian insufficiency. We should reduce the occurrence of low birth weight by various methods to avoid the occurrence of premature ovarian insufficiency.

6.
Clin Case Rep ; 12(4): e8590, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38560284

ABSTRACT

Bladder duplication and congenital bladder diverticulum are rare anomalies. We described two boys with rare bladder anomalies found on prenatal ultrasounds. Postnatal investigations and surgical findings confirmed these bladder anomalies. The malformation was associated with other system anomalies. This report of pre- and postnatal imaging with surgical correlation contributes to our understanding about these rare bladder anomalies.

7.
J Cancer Res Clin Oncol ; 150(2): 95, 2024 Feb 19.
Article in English | MEDLINE | ID: mdl-38369555

ABSTRACT

PURPOSE: There is no approved targeted therapy for chordoma at present. Although several preclinical studies have implied the potential applicability of CDK4/6 inhibitor for this rare tumor, no clinical evidence has been documented so far. The purpose of this study was to elucidate the therapeutic efficacy of CDK4/6 inhibitor for chordoma. METHODS: The next generation sequencing (as for whole-exome sequencing, WES assay) and immunohistochemical (IHC) staining of the chordoma tissue from a patient with an advanced lesion were performed before treatment. Then, the patient was treated with Palbociclib for 4 months until progression occurred in the 5th month. Surgical resection was implemented and the tumor tissue was obtained postoperatively for assessment of molecular alterations. RESULTS: Molecular features of the tumor before medical treatment suggested applicability of CDK4/6 inhibitor and the patient showed partial response (PR) according to Choi Criteria after 4 months treating with Palbociclib until progression occurred. Then, a drastic molecular alteration of the tumor as represented by emergence of dramatic E2F amplification, which is known to induce CDK4/6 independent cell-cycle entry and progression after treatment, was detected. The findings in this patient demonstrated tumor evolution under drug pressure. CONCLUSION: The findings of the present study suggest the feasibility of Palbociclib for the clinical treatment of chordoma, and imply the necessity of combination therapies rather single drug administration due to the quick resistance of the tumor to Palbociclib treatment.


Subject(s)
Chordoma , Piperazines , Humans , Retrospective Studies , Chordoma/drug therapy , Chordoma/genetics , Chordoma/pathology , Neoplasm Recurrence, Local/drug therapy , Neoplasm Recurrence, Local/genetics , Pyridines , Cyclin-Dependent Kinase 4/genetics , Protein Kinase Inhibitors/pharmacology
8.
Nat Commun ; 15(1): 1300, 2024 Feb 12.
Article in English | MEDLINE | ID: mdl-38346942

ABSTRACT

Osteoclasts are over-activated as we age, which results in bone loss. Src deficiency in mice leads to severe osteopetrosis due to a functional defect in osteoclasts, indicating that Src function is essential in osteoclasts. G-protein-coupled receptors (GPCRs) are the targets for ∼35% of approved drugs but it is still unclear how GPCRs regulate Src kinase activity. Here, we reveal that GPR54 activation by its natural ligand Kisspeptin-10 (Kp-10) causes Dusp18 to dephosphorylate Src at Tyr 416. Mechanistically, Gpr54 recruits both active Src and the Dusp18 phosphatase at its proline/arginine-rich motif in its C terminus. We show that Kp-10 binding to Gpr54 leads to the up-regulation of Dusp18. Kiss1, Gpr54 and Dusp18 knockout mice all exhibit osteoclast hyperactivation and bone loss, and Kp-10 abrogated bone loss by suppressing osteoclast activity in vivo. Therefore, Kp-10/Gpr54 is a promising therapeutic target to abrogate bone resorption by Dusp18-mediated Src dephosphorylation.


Subject(s)
Bone Resorption , Osteoclasts , Animals , Mice , Osteoclasts/metabolism , Kisspeptins/genetics , Kisspeptins/metabolism , Receptors, G-Protein-Coupled/metabolism , src-Family Kinases/genetics , src-Family Kinases/metabolism , Mice, Knockout , Bone Resorption/genetics , Receptors, Kisspeptin-1
9.
World Neurosurg ; 184: 65-73, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38218444

ABSTRACT

BACKGROUND: Spinal phosphaturic mesenchymal tumor (PMT) is a rare disorder but can be cured once the diagnosis is clear and a complete removal by surgery is performed. To the best of our knowledge, only 22 cases in the spine have been described, and we report a case with the largest number of spinal segments (T12-L5) affected among spine PMT cases. METHODS: A comprehensive literature search was performed until May 23, 2023, following the Preferred Reporting Items for Systematic Reviews guidelines. Studies were chosen through relevant PubMed, Web of Science, and EMBASE searches to prioritize obtaining the largest studies. The Medical Subject Headings and Boolean operators employed for this search were ("PMT" or "TIO" or "Tumor-induced osteomalacia" or "phosphaturic mesenchymal tumor") and ("spine" or "spinal"). Two researchers (L.S.Z. and D.B.C) independently reviewed and evaluated the included articles. Any differing opinions were discussed until a consensus was reached. A total of 18 studies were included. A case report is also presented. RESULTS: We report a case of spinal PMT. The full text of the relevant articles was construed. A total of 18 studies were reviewed and consolidated. These articles are roughly divided into the following 5 subcategories: 1) clinical features and baseline distribution, 2) laboratory and imaging findings, 3) pathological manifestations, and 4) surgical methods and treatment options. CONCLUSIONS: Spinal PMT is very rare with a high rate of misdiagnosis and debilitating complications, so it is of significance to increase awareness of the disease among spine surgeons consulted by patients with spinal PMT. 68Ga-DOTATOC-PET/CT shows very high sensitivity to the spinal PMT but there is no way to exactly determine the location of the tumor. PMT has unique immunohistochemical characteristics and malignant PMT is rare. Once diagnosed, complete surgical excision is the recommended treatment. Burosumab is one of the available options, especially in cases that are recurrent and difficult to surgically resect.

10.
Spine J ; 24(5): 858-866, 2024 May.
Article in English | MEDLINE | ID: mdl-38272127

ABSTRACT

BACKGROUND CONTEXT: Cellular schwannoma (CS) is a rare tumor that accounts for 2.8%-5.2% of all benign schwannomas. There is a dearth of up-to-date information on spinal CS in the literature. PURPOSE: The aims of this study were to identify the proportion of CS cases amongst spinal benign schwannoma, describe the clinical features of spinal CS, and identify prognostic factors for local recurrence by analyzing data from 93 consecutive CS cases. STUDY DESIGN: Retrospective review. PATIENT SAMPLE: We analyzed 93 PSGCT screened from 1,706 patients with spine CS who were treated at our institute between 2008 and 2021. OUTCOME MEASURES: Demographic, radiographic, operative and postoperative data were recorded and analyzed. METHODS: We compared the clinical features of spinal CS from the cervical, thoracic, lumbar and sacral segments. Prognostic factors for local recurrence-free survival (RFS) were identified by the Kaplan-Meier method. Factors with p≤.05 in univariate analysis were subjected to multivariate analysis by Cox regression analysis. RESULTS: The proportion of spinal CS in all benign schwannomas was 6.7%. The mean and median follow-up times for the 93 patients in this study were 92.2 and 91.0 months respectively (range 36-182 months). Local recurrence was detected in 11 cases, giving an overall recurrence rate of 11.7%, with one patient death. Statistical analysis revealed that tumor size ≥5 cm, intralesional resection, and Ki-67 ≥5% were independent negative prognostic factors for RFS in spinal CS. CONCLUSIONS: Whenever possible, en bloc resection is recommended for spinal CS. Long-term follow-up should be carried out for patients with tumor size ≥5 cm and postoperative pathological Ki-67 ≥5%.


Subject(s)
Neurilemmoma , Spinal Neoplasms , Humans , Neurilemmoma/surgery , Neurilemmoma/pathology , Male , Female , Middle Aged , Adult , Spinal Neoplasms/surgery , Spinal Neoplasms/pathology , Aged , Retrospective Studies , Neoplasm Recurrence, Local/epidemiology , Treatment Outcome , Young Adult , Adolescent , Prognosis
11.
Spine (Phila Pa 1976) ; 49(10): 715-725, 2024 May 15.
Article in English | MEDLINE | ID: mdl-38239008

ABSTRACT

STUDY DESIGN: A retrospective case series. OBJECTIVE: This study developed a novel classification system based on imaging and anatomy to select optimal surgical approaches and reconstruction strategies to achieve total resection of cervical dumbbell tumors and restore spinal stability. SUMMARY OF BACKGROUND DATA: Total resection is necessary to decrease the recurrence rate of cervical dumbbell tumors. Previous cervical dumbbell tumor classifications are insufficient for determining surgical strategies; therefore, a practical classification is needed. MATERIALS AND METHODS: This study included 295 consecutive patients with cervical dumbbell tumors who underwent total surgical resection. A novel classification of cervical dumbbell tumors was developed based on magnetic resonance imaging and computed tomography. Continuous variables were expressed as mean±SD and were compared using an unpaired two-tailed Student t test. The χ 2 test or the Fisher exact test was used for categorical variables. Kendall's W test assessed three independent raters' inter-rater and intrarater reliabilities on 140 cervical dumbbell tumors. RESULTS: The inter-rater and intrarater consistency coefficient was 0.969 (χ 2 =404.3, P <0.001) and 0.984 (χ 2 =273.7, P <0.001). All patients with type I and II tumors underwent single-posterior surgeries to achieve total resection. Of the patients in this study, 86.1%, 25.9%, 75.9%, and 76.9% underwent posterior surgeries for types IIIa, IIIb, IVa, and V tumors, respectively. All patients with type IVb tumors underwent a combined anterior and posterior approach. Posterior internal fixation was used for all patients in posterior surgery. Anterior reconstruction was applied for patients with type IVb tumors (20/20, 100%) and some with type V tumors (3/13, 23.1%). The mean follow-up duration was 93.6±2.6 months. A recurrence was observed in 19 (6.4%) patients. CONCLUSION: The authors describe a novel classification system that is of practical use for planning the complete resection of cervical dumbbell tumors.


Subject(s)
Cervical Vertebrae , Plastic Surgery Procedures , Humans , Cervical Vertebrae/surgery , Cervical Vertebrae/diagnostic imaging , Male , Female , Middle Aged , Retrospective Studies , Adult , Aged , Plastic Surgery Procedures/methods , Spinal Neoplasms/surgery , Spinal Neoplasms/diagnostic imaging , Spinal Neoplasms/classification , Young Adult , Magnetic Resonance Imaging/methods , Reproducibility of Results , Adolescent , Tomography, X-Ray Computed
12.
Int J Surg ; 110(1): 419-430, 2024 Jan 01.
Article in English | MEDLINE | ID: mdl-37851519

ABSTRACT

PURPOSE: Patients with spinal metastases (SM) suffer from a significant quality of life (QoL) deterioration. The measurement of QoL has garnered significant attention. In this study, the authors aimed to investigate the frequency of QoL measurement, systematically appraise the measurement properties of identified instruments, and facilitate the effective selection of an appropriate QoL instrument for patients with SM. METHODS: This systematic review adhered to the newly revised Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement guidelines. The methodological quality of the studies was assessed using the Consensus-based Standards for the selection of health Measurement Instruments (COSMIN) checklist. Measurement property results were assessed using the adapted criteria. Each measurement property was allocated a separate rating (excellent, good, fair, or poor). 'Best evidence synthesis' was performed using COSMIN outcomes and the quality of findings. RESULT: Two hundred and nine publications were included, and 18 instruments were identified. ECOG, EuroQol-5D, SF-36, SOSGOQ, and EORTC-QLQ-C30 were the top five instruments used for patients with SM in published literature. The measurement properties evaluated included internal consistency (four instruments), reliability (three instruments), validity (five instruments), validity (nine measures), floor and ceiling effects (four instruments), responsiveness (four instruments), and interpretability (three measures). Based on the limited evidence, the Brief Pain Inventory (BPI) had the best methodological quality. CONCLUSIONS: Owing to the limitations of BPI in assessment domains, we cannot fully support the use of BPI. For the lack of high-quality research, it is challenging to nominate a single appropriate measure. Additional studies are needed to explore the evidence before a confirmatory decision is made.


Subject(s)
Neoplasms, Second Primary , Neoplasms , Humans , Quality of Life , Reproducibility of Results , Checklist , Psychometrics/methods
13.
Adv Sci (Weinh) ; 11(5): e2305023, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38084002

ABSTRACT

Destruction of cartilage due to the abnormal remodeling of subchondral bone (SB) leads to osteoarthritis (OA), and restoring chondro-bone metabolic homeostasis is the key to the treatment of OA. However, traditional intra-articular injections for the treatment of OA cannot directly break through the cartilage barrier to reach SB. In this study, the hydrothermal method is used to synthesize ultra-small size (≈5 nm) selenium-doped carbon quantum dots (Se-CQDs, SC), which conjugated with triphenylphosphine (TPP) to create TPP-Se-CQDs (SCT). Further, SCT is dynamically complexed with hyaluronic acid modified with aldehyde and methacrylic anhydride (AHAMA) to construct highly permeable micro/nano hydrogel microspheres (SCT@AHAMA) for restoring chondro-bone metabolic homeostasis. In vitro experiments confirmed that the selenium atoms scavenged reactive oxygen species (ROS) from the mitochondria of mononuclear macrophages, inhibited osteoclast differentiation and function, and suppressed early chondrocyte apoptosis to maintain a balance between cartilage matrix synthesis and catabolism. In vivo experiments further demonstrated that the delivery system inhibited osteoclastogenesis and H-vessel invasion, thereby regulating the initiation and process of abnormal bone remodeling and inhibiting cartilage degeneration in SB. In conclusion, the micro/nano hydrogel microspheres based on ultra-small quantum dots facilitate the efficient penetration of articular SB and regulate chondro-bone metabolism for OA treatment.


Subject(s)
Cartilage, Articular , Osteoarthritis , Selenium , Humans , Microspheres , Hydrogels/metabolism , Selenium/metabolism , Cartilage, Articular/metabolism , Osteoarthritis/drug therapy , Osteoarthritis/metabolism
15.
Genomics ; 115(6): 110745, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37977332

ABSTRACT

Grain qualities including milling quality, appearance quality, eating and cooking quality, and nutritional quality are important indicators in rice breeding. Significant achievements in genetic improvement of rice quality have been made. In this study, we analyzed the variation patterns of 16 traits in 1570 rice varieties and found significant improvements in appearance quality and eating and cooking quality, particularly in hybrid rice. Through genome-wide association study and allelic functional nucleotide polymorphisms analysis of quality trait genes, we found that ALK, FGR1, FLO7, GL7/GW7, GLW7, GS2, GS3, ONAC129, OsGRF8, POW1, WCR1, and Wx were associated with the genetic improvement of rice quality traits in Southern China. Allelic functional nucleotide polymorphisms analysis of 13 important rice quality genes, including fragrance gene fgr, were performed using the polymerase chain reaction amplification refractory mutation system technology. The results showed that Gui516, Gui569, Gui721, Ryousi, Rsimiao, Rbasi, and Yuehui9802 possessed multiple superior alleles. This study elucidates the phenotypic changes and molecular basis of key quality traits of varieties in Southern China. The findings will provide guidance for genetic improvement of rice quality and the development of new varieties.


Subject(s)
Oryza , Quantitative Trait Loci , Oryza/genetics , Genome-Wide Association Study , Plant Breeding , Nucleotides
16.
Front Endocrinol (Lausanne) ; 14: 1238090, 2023.
Article in English | MEDLINE | ID: mdl-37900148

ABSTRACT

Objective: Type 2 diabetes mellitus (T2DM) is an endocrine-related disease with an increasing incidence worldwide. Male sexual dysfunction is common in diabetic patients. Therefore, we designed a Mendelian randomization (MR) study to investigate the association of type 2 diabetes and 3 glycemic traits with testosterone levels. Methods: Uncorrelated single nucleotide polymorphisms (SNPs) associated with T2DM (N = 228), fasting insulin (N = 38), fasting glucose (N = 71), and HbA1c (N = 75) at the genome-wide significance were selected as instrument variables. Genetic associations with testosterone levels (total testosterone, TT, bioavailable testosterone, BT, and sex hormone-binding globulin, SHBG) were obtained from the UK Biobank studies and other large consortia. Two-sample MR analysis was used to minimize the bias caused by confounding factors and response causality. Multivariable MR analysis was performed using Body mass index (BMI), Triglycerides (TG), LDL cholesterol (LDL), and adiponectin to adjust for the effects of potential confounders. Results: Type 2 diabetes mellitus was associated with the decrease of total testosterone (ß: -0.021,95%CI: -0.032, -0.010, p<0.001) and sex hormone binding globulin (ß: -0.048,95%CI: -0.065, -0.031, p<0.001). In males, total testosterone (ß: 0.058, 95% CI: 0.088, 0.028, p < 0.001) decreased. In females, it was associated with an increase in bioavailable testosterone (ß: 0.077,95%CI: 0.058,0.096, p<0.001). Each unit (pmol/L) increase in fasting insulin was associated with 0.283nmol/L decrease in sex hormone-binding globulin (95%CI: -0.464, -0.102, p=0.002) and 0.260nmol/L increase in bioavailable testosterone (95%CI: -0.464, -0.102, p= 0.002). In males, sex hormone binding globulin decreased by 0.507nmol/L (95%CI: -0.960, -0.054, p= 0.028) and bioavailable testosterone increased by 0.216nmol/L (95%CI: 0.087,0.344, p= 0.001). In females, sex hormone binding globulin decreased by 0.714 nmol/L (95%CI: -1.093, -0.335, p<0.001) and bioavailable testosterone increased by 0.467nmol/L (95%CI: 0.286,0.648, p<0.001). Each unit (%) increase in HbA1c was associated with 0.060nmol/L decrease in sex hormone-binding globulin (95%CI: -0.113, -0.007, p= 0.026). In males, total testosterone decreased by 0.171nmol/L (95%CI: -0.288, -0.053, p=0.005) and sex hormone binding globulin decreased by 0.206nmol/L (95%CI: -0.340, -0.072, p=0.003). Total testosterone increased by 0.122nmol/L (95%CI: 0.012,0.233, p=0.029) and bioavailable testosterone increased by 0.163nmol/L (95%CI: 0.042,0.285, p=0.008) in females. Conclusions: Using MR Analysis, we found independent effects of type 2 diabetes, fasting insulin, and HbA1c on total testosterone and sex hormone-binding globulin after maximum exclusion of the effects of obesity, BMI, TG, LDL and Adiponectin.


Subject(s)
Diabetes Mellitus, Type 2 , Female , Humans , Male , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/epidemiology , Sex Hormone-Binding Globulin/metabolism , Glycated Hemoglobin , Adiponectin/metabolism , Mendelian Randomization Analysis , Testosterone , Insulin/metabolism , Triglycerides
17.
Medicine (Baltimore) ; 102(43): e34231, 2023 Oct 27.
Article in English | MEDLINE | ID: mdl-37904412

ABSTRACT

To clarify the epidemiology, treatment, and prognosis of sarcomas occurring in the bones and joints. The surveillance, epidemiology, and end results (SEER) 18 registries, comprising sarcoma diagnoses made between 2008 and 2014, were queried for sarcomas arising in bones or joints. Kaplan-Meier analysis, multivariate logistic regression analysis, Cox proportional hazards model, and nomograms were used to identify prognostic factors. 2794 patients aged from 1 to 99 (55.8% male) with microscopically confirmed diagnosed as sarcomas (including osteosarcoma, chondrosarcoma, Ewing sarcoma, and soft tissue sarcomas) which primary site limited to bone and joint were identified. Eight independent factors, including age, race, sex, tumor site, histology, pathology grade, tumor size, and total number of malignant tumors (TNOMT), were associated with tumor metastasis. Nine independent prognostic factors, including age (>=60 year, hazard ratio [HR] = 4.145, 95% confidence interval [CI], P < .001), sex (female, HR = 0.814, 95%CI, P = .007), tumor site (spine, HR = 2.527, 95%CI, P < .001), histology, pathology grade (undifferentiated, HR = 5.816, 95%CI, P < .001), tumor size (>=20 cm, HR = 3.043, 95%CI, P < .001), tumor extent (distant, HR = 4.145, 95%CI, P < .001), surgery (no performed, HR = 2.436, 95%CI, P < .001), and TNOMT (1, HR = 0.679, 95%CI, P < .001, were identified and incorporated to construct a nomogram for 2- and 5-year overall survival (OS). The calibration curve for the probability of survival showed good agreement between prediction by the nomogram and actual observation. The C-index of the nomogram for survival prediction was 0.814. Patients who received chemotherapy had a significantly decreased risk of death only for Ewing sarcoma, poorly differentiated tumors, undifferentiated tumors, and distant tumor invasion (P < .05). However, radiotherapy did not show significant differences in OS. This study presents population-based estimates of prognosis for patients with bone sarcomas and demonstrates the impact of age, race, sex, tumor site, histology, pathology grade, tumor size, tumor extent, surgery, radiotherapy, chemotherapy, and the TNOMT on OS. Moreover, the nomogram resulted in a more accurate prognostic prediction. However, in our study, radiotherapy showed no survival benefit, perhaps because detailed data on treatment factors were unavailable and which may have influenced the results.


Subject(s)
Bone Neoplasms , Neuroectodermal Tumors, Primitive, Peripheral , Osteosarcoma , Sarcoma, Ewing , Sarcoma , Soft Tissue Neoplasms , Humans , Male , Female , Sarcoma, Ewing/epidemiology , Sarcoma, Ewing/therapy , Sarcoma, Ewing/pathology , Prognosis , SEER Program , Sarcoma/epidemiology , Sarcoma/therapy , Nomograms , Osteosarcoma/pathology , Bone Neoplasms/epidemiology , Bone Neoplasms/therapy , Bone Neoplasms/diagnosis
18.
Ther Clin Risk Manag ; 19: 801-810, 2023.
Article in English | MEDLINE | ID: mdl-37850071

ABSTRACT

Purpose: To compare and analyze the therapeutic effects of endoscopy-assisted laparoscopic surgery (EALS) and laparoscopic surgery (LS) in the treatment of gastric duplication cysts (GDCs). Patients and Methods: We reviewed the clinical data of children with GDCs who underwent surgical treatment at Hubei Maternal and Child Health Hospital, Yijishan Hospital of Wannan Medical College, and Qingdao Women and Children's Medical Center from September 2014 to November 2022. Results: The study comprised 29 children with GDCs, including 14 in the EALS group and 15 in the LS group. There was no significant difference between the two groups in terms of age, sex, weight, and cyst size characteristics. There was a significant difference between the two groups in terms of average surgical time (P>0.05), which was 1.100 ± 0.833 hours in the EALS group and 1.933 ± 0.159 hours in the LS group. There was a significant difference between the two groups (P<0.05) in average intraoperative blood loss, which was 7.93 ± 3.81 milliliters in the EALS group and 11.80 ± 2.72 milliliters in the LS group. There was a significant difference between the two groups (P<0.05) in average postoperative fasting time, which was 73.79 ± 8.36 hours in the EALS group and 114.1 ± 9.24 hours in the LS group. There was a significant difference between the two groups (P<0.05) in average postoperative hospital stay, which was 10.21 ± 4.25 days in the EALS group and 14.47 ± 4.36 days in the LS group. Conclusion: EALS technology can not only shorten surgical time, accurately locate GDCs, reduce injuries, and decrease the probability of complications but also achieve treatment goals safely and reliably.

19.
Medicine (Baltimore) ; 102(40): e34910, 2023 Oct 06.
Article in English | MEDLINE | ID: mdl-37800819

ABSTRACT

Retroperitoneal non-organ-originated malignancies are rare pediatric tumors with challenging diagnosis and treatment. The present study aimed to analyze the clinicopathological characteristics, treatment, and prognosis of retroperitoneal non-organ-originated malignancies. In the study, we included the pathological diagnosis of pediatric retroperitoneal non-organ-originated malignant tumors between 2000 to 2019 through the updated Surveillance, Epidemiology, and End Results database. We use the Kaplan-Meier survival curve to calculate the overall survival (OS) and cancer-specific survival (CSS). The risk of all-cause death and disease-specific death were analyzed using Cox proportional hazard regression model and Fine-and-Grey competitive hazard model, respectively. In the study, a total of 443 pediatric retroperitoneal non-organ-originated malignancies were included. Of them, only 22.3% of patients had no metastatic disease, 42.9% had distant metastasis and 34.8% had locally advanced diseases. The primary pathological tumor was neuroblastoma followed by germ cell tumor. The overall 10-year OS and CSS were 70.7% and 73.1%, respectively, and the 10-year OS and CSS of metastatic diseases were 54.4% and 56.6%, respectively. Older children, worse tumor stage at diagnosis, incomplete resection, and prolonged time from diagnosis to treatment were significantly associated with worse survival outcomes. Radiotherapy and chemotherapy did not significantly improve the prognosis of patients without complete tumor resection. The study indicated that most pediatric retroperitoneal non-organ-originated malignancies diagnosed with metastatic diseases have plagued treatment. Radiotherapy and chemotherapy are the main treatment methods for children unable to undergo complete surgical treatment. However, these treatments do not reach the same therapeutic effect as complete tumor resection after early diagnosis. Hence, early diagnosis and surgery for complete tumor resection are of utmost importance.


Subject(s)
Retroperitoneal Neoplasms , Humans , Child , Adolescent , Prognosis , Proportional Hazards Models , Kaplan-Meier Estimate , Retroperitoneal Space , Retroperitoneal Neoplasms/epidemiology , Retroperitoneal Neoplasms/therapy , SEER Program
20.
Am J Cancer Res ; 13(8): 3721-3740, 2023.
Article in English | MEDLINE | ID: mdl-37693165

ABSTRACT

Understanding the specificity and complexity of the tumor microenvironment (TME) of Ewing sarcoma (ES) is essential for identifying the immune characteristics of ES, improving the prediction of immunotherapeutic response, and facilitating therapeutic target discovery. In this study, we not only evaluated the gene sets associated with TME in ES using ESTIMATE and WGCNA algorithms based on the transcriptome data of ES, but also constructed a prognostic model (ES Score) using univariate Cox regression and Lasso regression and assessed its predictive ability on immune cell infiltration. Subsequently, we identified ARAP3 as a key gene affecting the TME of ES. In addition, bioinformatic analyses and in vitro experiments proved that the high expression of ARAP3 regulated ES cell proliferation, migration, as well as apoptosis via the p53 signaling pathway and affected macrophage infiltration and osteoclast differentiation through regulating IL1B and IL11 secretion of tumor cells.

SELECTION OF CITATIONS
SEARCH DETAIL