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Primary joint replacements are performed increasingly often worldwide, driven by an aging population, improvement in surgical techniques, and advancements in implant designs. While more attention has traditionally been focused on weight-bearing joints such as the hip and knee, shoulder replacement surgeries have gained increasing attention in recent years due to the population's demand for a better quality of life. Thus far, a comprehensive bibliometric analysis of shoulder arthroplasty-related publications using the Scopus database has not yet been conducted. This bibliometric analysis aims to fill this gap by reviewing the Scopus database from its inception until 2023 to examine the literature on shoulder arthroplasty. A total of 5300 publications meeting the selection criteria were included in this analysis. The turn of the century marked a significant turning point for the field of shoulder arthroplasty, with an increasing number of publications produced annually. This trend can be attributed to the improvement of implant designs, which have become more consistent and reliable over time. While the majority of articles were authored by researchers and clinicians from the United States of America (USA), publications by French authors had a higher scholarly impact in the field. There is a noticeable gap in research on shoulder arthroplasty in developing countries, possibly due to the prohibitively high cost of implants and the prioritization of other healthcare sectors. This bibliometric analysis, utilizing Scopus data, serves as a guiding light for researchers, clinicians, and policymakers, potentially fostering collaborative projects and guiding the development of future studies to further advance the field of shoulder arthroplasty, particularly in developing countries.
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Objective: To investigate the efficacy and safety of tocilizumab in the treatment of critically ill children with acute necrotizing encephalopathy (ANE). Methods: It is a retrospective cohort study. The children with ANE admitted to the pediatric intensive care unit of 4 Chinese tertiary hospitals from December 2022 to November 2023 were divided into conventional treatment group and tocilizumab group, and the comparison between groups was performed by using Mann - Whitney U test or Chi-square test. Results: Among 21 cases of severe ANE, there were 11 males with the onset age of 65 (27, 113) months. The duration from onset to PICU admission was 2 (1, 2) days. There were 13 cases of ultra-high fever (greater than 40 â), including 18 cases of convulsions, and 19 cases with a GCS score of less than 8 points. The causative agent was novel coronavirus Omicron in 7 cases and influenza A in 14 cases. All cases had central respiratory failure requiring mechanical ventilation. Of the 21 cases, 18 were shock, 15 were coagulopathy, 10 were kidney injury and 13 were liver dysfunction. Of these hospitalized patients, 8 children with ANE were treated with tocilizumab. Eight cases received continuous blood purification (CBP) treatment, 5 of them were combined with plasmapheresis. Serum cytokine levels were elevated in 21 children with ANE, including (interleukin, IL)-6 and IL-8 (61 (22, 1 513) and 68 (5, 296) ng/L). There were 14 cases (67%) deaths, including 11 cases in the conventional treatment group and 3 cases in the tocilizumab group. There was no significant difference in the mortality rate between the two groups (P=0.056). Tocilizumab-related rash or other adverse events were not observed. Conclusions: The motality of critically ill ANE patients was high. The combination of Tocilizumab with conventional treatment did not reduce the motality of severe ANE patients, and no adverse reactions of tocilizumab were observed.
Subject(s)
Antibodies, Monoclonal, Humanized , Intensive Care Units, Pediatric , Humans , Antibodies, Monoclonal, Humanized/therapeutic use , Antibodies, Monoclonal, Humanized/administration & dosage , Male , Female , Retrospective Studies , Child, Preschool , Child , Leukoencephalitis, Acute Hemorrhagic/drug therapy , Infant , Treatment Outcome , SARS-CoV-2 , COVID-19/mortality , COVID-19/complications , Critical Illness , Severity of Illness IndexABSTRACT
Objective: To investigate the clinical features and prognostic factors of advanced myelodysplastic syndromes (MDS) in children. Methods: Clinical data of children diagnosed with advanced MDS in the Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, between September 2009 and April 2022 were retrospectively collected. Follow-up assessments were performed through telephone interviews and the review of medical records until May 1, 2023. The clinical features of children with advanced MDS were summarized by analyzing chromosomal karyotype tests, second-generation gene sequencing results. Multivariate Cox regression analysis was used to investigate the prognostic factors of advanced MDS in children. Results: A total of 69 children, comprising 49 males and 20 females, aged [M (Q1, Q3)] 8 (5, 10) years, were enrolled in the study. Sixty-seven cases underwent chromosomal karyotype testing, of which 42 cases (62.7%) had abnormal karyotypes, with monosomy 7 the most common in 17 cases (25.4%). Forty-three cases underwent next-generation sequencing, with mutations in the SETBP1, NRAS, PTPN11 and RUNX1 genes more common, identified in 12 cases (27.9%), 9 cases (20.9%), 8 cases(18.6%), and 8 cases(18.6%), respectively. The follow-up time [M (Q1, Q3)] was 26 (13, 56) months and the 5-year overall survival rate was 56%(95%CI: 44.4%-70.5%). The 5-year overall survival rate for children who underwent hematopoietic stem cell transplantation (HSCT) was higher than that of children who did not undergo HSCT (73.9% vs 29.1%, P<0.001). HSCT (HR=0.118, 95%CI: 0.037-0.372, P<0.001) was a protective factor for the overall survival rate of children with advanced MDS. Serum ferritin level>356.3 µg/L (HR=6.497, 95%CI: 2.068-20.415, P=0.001) and moderate to severe splenomegaly (HR=4.075, 95%CI: 1.174-14.141, P=0.027) were risk factors for the overall survival rate of children with advanced MDS. Conclusions: Monosomy 7 was the most common abnormal karyotype and SETBP1 was the gene that had the highest mutation frequency in children with advanced MDS. HSCT, increased ferritin and moderate to severe splenomegaly are prognostic factors influencing the overall survival rate of children with advanced MDS.
Subject(s)
Karyotyping , Mutation , Myelodysplastic Syndromes , Humans , Myelodysplastic Syndromes/genetics , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/therapy , Male , Female , Child , Prognosis , Retrospective Studies , Child, Preschool , Chromosomes, Human, Pair 7/genetics , Core Binding Factor Alpha 2 Subunit/genetics , High-Throughput Nucleotide Sequencing , Abnormal Karyotype , Chromosome Deletion , Protein Tyrosine Phosphatase, Non-Receptor Type 11ABSTRACT
Objective: To investigate the effects of cervical cold knife conization (CKC) on preterm delivery, other pregnancy complications and neonatal outcomes, and explore the relationship between preterm delivery risk and the depth and volume of conization. Methods: The clinical data and pregnancy outcomes of 272 women who underwent CKC in Peking Union Medical College Hospital from January 2002 to March 2018 (conization group) and 1 647 pregnant women who gave birth in Peking Union Medical College Hospital during January to December 2019 (control group) were collected. The preterm delivery, premature rupture of membranes, other pregnancy complications and neonatal outcomes of the two groups were compared, and the relationship between the depth and volume of conization and the risk of preterm delivery in postoperative singleton pregnancy was analyzed. Results: (1) There were no significant differences between the two groups in delivery age, parity, proportion of singleton pregnancy, proportion of assisted reproductive technology (all P>0.05). (2) The rate of preterm delivery in the conization group was significantly higher than that in the control group [14.8% (39/264) vs 5.7% (91/1 589); χ2=28.397, P<0.001]. There were still significant differences in preterm delivery rates between the two groups at <34 weeks and 34-37 weeks (all P<0.01). There was no significant difference in the incidence of premature rupture of membrane between the two groups [23.5% (62/264) vs 23.4% (372/1 589); χ2=0.001, P=0.979], but the incidence of preterm premature rupture of membrane in the conization group was significantly higher than that in the control group [11.4% (30/264) vs 2.2% (35/1 589); χ2=56.132, P<0.001]. (3) The rate of cesarean section in the conization group was higher than that in the control group [59.6% (162/272) vs 38.8% (639/1 647); χ2=41.377, P<0.001]. The birth weight of preterm infants in the conization group was significantly higher than that in the control group [(2 409±680) vs (2 150±684) g; t=2.184, P=0.030]. However, there were no statistically significant differences in the incidence of gestational diabetes mellitus, hypertensive disorders in pregnancy, the birth weight of full-term infants, incidence of small for gestational age infant and neonatal intensive care unit admission rate between the two groups (all P>0.05). (4) The preterm delivery rates of coning depth >15 mm, cone size ≥2 cm3 and cone size <2 cm3 were higher than that in the control group (all P<0.05). When the coning depth ≤15 mm, the preterm delivery rate in the conization group was higher than that in the control group, but there was no significant difference (P=0.620). The rate of preterm delivery of pregnant women with coning depth >15 mm was significantly higher than those with coning depth ≤15 mm (RR=3.084, 95%CI: 1.474-6.453; P=0.001). There was no significant difference in the preterm delivery rate between pregnant women with cone size >2 cm3 and those with cone size ≥2 cm3 (RR=1.700, 95%CI: 0.935-3.092; P=0.077). Conclusion: The risk of preterm delivery and preterm premature rupture of membranes in subsequent pregnancies are increased after cervical CKC, and the risk of preterm delivery is positively correlated with the depth of cervical coning.
Subject(s)
Cervix Uteri , Conization , Fetal Membranes, Premature Rupture , Pregnancy Outcome , Premature Birth , Humans , Female , Pregnancy , Conization/adverse effects , Conization/methods , Premature Birth/epidemiology , Adult , Fetal Membranes, Premature Rupture/epidemiology , Pregnancy Complications/epidemiology , Retrospective Studies , Infant, Newborn , Uterine Cervical Neoplasms/surgery , Uterine Cervical Neoplasms/epidemiology , Uterine Cervical Neoplasms/pathology , Uterine Cervical Dysplasia/surgery , Uterine Cervical Dysplasia/epidemiologyABSTRACT
Objective: To explore the effect of the absent in melanoma 2 (AIM2) -mediated neuroinflammation in noise-induced cognitive dysfunction in rats. Methods: In April 2023, sixteen male Wistar rats were randomly divided into control group and noise group, with 8 rats in each group. The rats in the noise group were placed in 50 cm×50 cm×40 cm transparent boxes and exposed to 100 dB (A) white noise with a sound pressure level of 100 dB (A) (4 h/d for 30 d) . At the same time, rats in the control group were kept in similar boxes with environmental noise less than 60 dB (A) . After 30 days of noise exposure, the Morris water maze experiment was applied to test the learning and memory abilities of the rats; the pathological morphology of hippocampal tissues was observed by Hematoxylin-Eosin (HE) staining. Western blot was used to detect the protein expression levels of AIM2, cysteinyl aspartate specific proteinase-1 (caspase-1) , apoptosis-associated speck-like protein (ASC) , interleukin-1ß (IL-1ß) , IL-18, ionic calcium-binding articulation molecule-1 (Iba-1) , and glial fibrillary acidic protein (GFAP) . The expression of both Iba-1 and GFAP in hippocampal tissue was assessed by immunohistochemical staining. The co-localization of AIM2 with Iba-1 or GFAP was determined by immunofluorescence double staining. Results: Compared with the control group, the escape latency of rats in the noise group was increased by 16.29 s, 17.71 s, and 20.26 s on days 3, 4, and 5, respectively. On day 6, the noise-exposed rats spent shorter time in the target quadrant and had fewer times in crossing the platform[ (7.25±2.27) s and (1.13±0.64) times] than the control group[ (15.64±3.99) s and (4.25±2.12) times] (P<0.05) . After noise exposure, hippocampal neurons of rats displayed marked nuclear hyperchromatic and pyknosis phenomenon. The noise-exposed rats had higher numbers of both microglia and astrocytes (27.00±2.65 and 43.33±5.51) in the DG area of the hippocampus relative to the control group (14.67±3.06 and 20.00±4.58) (P<0.05) . Moreover, the glial cells in the noise group had larger cell cytosol with more and thicker branches. The protein expression levels of inflammatory cytokines Cleaved-IL-1ß and Cleaved-IL-18 in the hippocampus of rats in the noise group (1.55±0.19 and 1.74±0.12) were significantly higher than the control group (1.00±0.11 and 1.00±0.13) (P<0.05) . After noise exposure, the protein expression levels of AIM2, Cleaved-Caspase-1 and ASC (1.19±0.09, 1.34±0.07 and 1.14±0.01) were higher than the control group (1.00±0.07, 1.00±0.14 and 1.00±0.06) and differences between the two groups were statistically significant (P<0.05) . A significant increase in the number of cells co-localizing AIM2 with Iba-1 or GFAP in the noise group (28.67±4.04 and 40.67±5.13) compared with the control group (15.67±4.04 and 17.67±3.79) , and statistically significant differences were observed between the two groups (P<0.05) . Conclusion: Noise exposure may activate the AIM2 inflammasome in hippocampal glial cells of rats, releasing excessive inflammatory cytokines and causing neuroinflammation that damages neurons.
Subject(s)
Cognitive Dysfunction , Hippocampus , Inflammasomes , Interleukin-18 , Noise , Rats, Wistar , Animals , Rats , Male , Noise/adverse effects , Cognitive Dysfunction/metabolism , Cognitive Dysfunction/etiology , Inflammasomes/metabolism , Hippocampus/metabolism , Hippocampus/pathology , Interleukin-18/metabolism , Interleukin-1beta/metabolism , DNA-Binding Proteins/metabolism , Caspase 1/metabolism , Calcium-Binding Proteins/metabolism , Glial Fibrillary Acidic Protein/metabolism , Microfilament Proteins/metabolism , CARD Signaling Adaptor Proteins/metabolism , Maze LearningABSTRACT
Microglia are the residential immune cells in the central nervous system. Their roles as innate immune cells and regulators of synaptic remodeling are critical to the development and the maintenance of the brain. Numerous studies have depleted microglia to elucidate their involvement in healthy and pathological conditions. PLX3397, a blocker of colony stimulating factor 1 receptor (CSF1R), is widely used to deplete mouse microglia due to its non-invasiveness and convenience. Recently, other small rodents, including Syrian hamsters (Mesocricetus auratus) and Mongolian gerbils (Meriones unguiculatus), have been recognized as valuable animal models for studying brain functions and diseases. However, whether microglia depletion via PLX3397 is feasible in these species remains unclear. Here, we administered PLX3397 orally via food pellets to hamsters and gerbils. PLX3397 successfully depleted gerbil microglia but had no effect on microglial density in hamsters. Comparative analysis of the CSF1R amino acid sequence in different species hints that amino acid substitutions in the juxtamembrane domain may potentially contribute to the inefficacy of PLX3397 in hamsters.
Subject(s)
Aminopyridines , Brain , Gerbillinae , Microglia , Pyrroles , Receptors, Granulocyte-Macrophage Colony-Stimulating Factor , Animals , Cricetinae , Administration, Oral , Aminopyridines/pharmacology , Brain/drug effects , Brain/metabolism , Brain/cytology , Mesocricetus , Microglia/drug effects , Microglia/metabolism , Models, Animal , Pyrroles/pharmacology , Pyrrolidines/pharmacology , Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/antagonists & inhibitors , Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/genetics , Species SpecificityABSTRACT
AIMS: Alcoholic cardiomyopathy (ACM) is recognized as a type of non-ischemic dilated cardiomyopathy (DCM). To date, the clinical prognosis of ACM remains a topic of debate in previous studies and there are limited studies on its cardiac MRI characteristics. The aim of this study was to summarize the clinical and MRI features of ACM patients and to identify the predictors of adverse prognosis based on clinical characteristics and MRI imaging findings. MATERIALS AND METHODS: Adult patients who were clinically diagnosed with ACM and underwent enhanced CMR between September 2015 and August 2022 were retrospectively enrolled. The primary endpoints were major adverse cardiovascular events, including cardiac-related death, heart transplantation, hospitalization for heart failure and life-threatening ventricular arrhythmias (sustained ventricular tachycardia, ventricular fibrillation, or ICD shock). The risk factors associated with these primary end points were identified using multivariable Cox analysis. RESULTS: A total of 62 ACM patients (50 ± 9 years, 62 men) were included. The majority of patients presented with symptoms of heart failure. Over a median follow-up period of 30.3 months (IQR 12.2-57.7 months), 24 patients reached the primary endpoints. For clinical variables, multivariable analysis showed that drinking duration (HR=1.05; 95%CI:1.01, 1.11; p=0.03) and persistent drinking (HR=3.71; 95%CI:1.46, 9.44; p=0.01) were associated with MACE. For CMR variables, late gadolinium enhancement (LGE) percent (HR = 1.09; 95% CI: 1.03, 1.14; p<0.001) stood out as an independent predictor for MACE. CONCLUSIONS: In ACM patients, persistent drinking and cardiac MRI-defined myocardial scar were associated with adverse outcomes such as cardiac death, heart transplantation, hospitalization for heart failure or life-threatening ventricular arrhythmias.
Subject(s)
Cardiomyopathy, Alcoholic , Magnetic Resonance Imaging , Humans , Male , Middle Aged , Female , Cardiomyopathy, Alcoholic/diagnostic imaging , Prognosis , Retrospective Studies , Magnetic Resonance Imaging/methods , Risk Factors , Magnetic Resonance Imaging, Cine/methods , Contrast Media , AdultABSTRACT
Motivated by the excellent thermoelectric (TE) performance of bulk SnSe, extensive attention has been drawn to the TE properties of the monolayer SnSe. To uncover the fundamental mechanism of manipulating the TE performance of the SnSe monolayer, we perform a systematic study on the TE properties of five monolayer SnSe allotropes such asα-,ß-,γ-,δ-, andε-SnSe based on the density functional theory and the non-equilibrium Green's functions. By comparing the TE properties of the Na-doped SnSe allotropes with the undoped ones, the influences of the Na doping and the temperature on the TE properties are deeply investigated. It is shown that the figure of meritZTwill increase as the temperature increases, which is the same for almost all the Na-doped and undoped cases. The Na doping can enhance or suppress theZTin different SnSe allotropes at different temperatures, implying the presence of the anomalous suppression of theZT. The Na doping inducedZTsuppression may be caused basically by the sharp decrease of the power factor and the weak decrease of the electronic thermal conductance, rather than by the decrease of the phononic thermal conductance. We hope this work will be able to enrich the understanding of the manipulation of TE properties by means of dimensions, structurization, doping, and temperature.
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OBJECTIVE: This study aimed to investigate the effects of robot-assisted gait training (RAGT) on improving walking ability, and to determine the optimal dosage of task-specific training based on RAGT for stroke patients. MATERIALS AND METHODS: Two investigators independently searched electronic databases, including PubMed, Embase, Cochrane Library, and Physiotherapy Evidence Database (PEDro) from inception to 31 January 2020. The study design was a systematic review with meta-analysis of randomized controlled trials (RCTs), comparing the intervention of RAGT plus conventional therapy to conventional therapy alone. RCTs mainly focus on lower limb motor function as the primary outcomes, while the secondary outcomes involve gait speed, walking distance, cadence, balance, and activities of daily living (ADL). Pooled effect estimates were calculated by comparing the change from baseline to the end of the study in each group. RESULTS: Twenty-eight RCTs were included. The pooled analysis showed that RAGT had a significantly short-term effect on improving lower limb function [standardized mean difference (SMD) 0.32, 95% CI 0.10 to 0.55]. Additionally, there were significant improvements in gait speed (MD 0.10, 95% CI 0.06 to 0.14) and ADL (SMD 0.17, 95% CI 0.02 to 0.32). Subgroup analyses indicated that RAGT lasting for 30-60 minutes per day over 4 weeks yielded a moderate effect size (SMD 0.53, 95% CI 0.16 to 0.90). Additionally, RAGT significantly promoted lower limb function recovery in the early stage after a stroke (SMD 0.33, 95% CI 0.07 to 0.58) or in non-ambulatory patients (SMD 0.35, 95% CI 0.10 to 0.59). CONCLUSIONS: RAGT demonstrated significant positive effects on lower limb function post-stroke. Our results provide additional evidence to support that RAGT is a potentially appropriate intervention to promote lower limb recovery in individuals who have had a stroke.
Subject(s)
Gait , Lower Extremity , Robotics , Stroke Rehabilitation , Humans , Stroke Rehabilitation/methods , Stroke/physiopathology , Stroke/therapy , Activities of Daily Living , Exercise Therapy/methods , Randomized Controlled Trials as TopicABSTRACT
Objective: To compare the short-term efficacy and the safety of microwave ablation (MWA) and radiofrequency ablation (RFA) in the treatment of benign thyroid nodules (BTNs). Methods: This prospective randomized controlled trial, performed from December 2019 to September 2021, included 36 patients with solid or predominantly solid BTNs who met the eligibility criteria and provided written informed consent at the Nanjing sub-center (Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine). Patients were assigned to either the MWA group or the RFA group (18 patients in each group) at a ratio of 1â¶1 using a block randomization design and allocation concealment using sealed envelope randomization. The independent-sample t-test and χ2 test were used to compare the volume reduction rates (VRRs), effective rates (VRRs≥50%), cosmetic scores, and complication rates at 1, 3, and 6 months after treatment between the two groups. Results: The clinical characteristics of the two groups of patients were comparable. After ablation, the nodule volume was significantly reduced in both groups. At 1, 3, and 6 months, there was no significant difference in the volume between the two groups (all P>0.05). At 3 months, the RFA group had a larger VRRs than that in the MWA group (62.08%±12.46% vs. 46.90%±23.16%, t=-2.45, P=0.021). However, at 1 and 6 months, no statistical significance was observed (both P>0.05). No significant difference was observed in the effective rates at the last follow-up (14/18 vs. 18/18, P=0.104). However, the RFA group had a lower cosmetic score than that in the MWA group (1.78±0.43 vs. 2.17±0.51, t=-2.47, P=0.019). There was no statistically significant difference in the complication rates between the two groups (all P>0.05). Conclusions: Both MWA and RFA were effective and safe treatments for BTNs, with no significant differences in short-term efficacy and safety. In addition, the RFA group showed slightly more favorable outcomes than the MWA group in terms of cosmetic improvement.
Subject(s)
Radiofrequency Ablation , Thyroid Nodule , Humans , Microwaves , Prospective Studies , Thyroid Nodule/surgery , HospitalsABSTRACT
OBJECTIVE: To explore the mechanisms mediating the protective effect of carnosine against nephropathy in rats with diabetes mellitus (DM). METHODS: Rat models of DM established by high-fat diet feeding and streptozotocin injection were randomized into DM group and 3 treatment groups with daily carnosine treatment at 100, 300, and 900 mg/kg. Body weight and blood glucose level changes of the rats were measured regularly. After the treatment, 24-h urine, serum samples and kidneys of the rats were collected to measure urine volume, urine protein content, blood creatinine, and kidney mass; renal pathology was observed using HE staining, and MDA content and SOD activity in the kidney tissues were detected. Western blotting was performed to detect the protein expressions of p-AKT, AKT, p-mTOR, mTOR, LC3 and p62 in the kidney tissues. RESULTS: Compared with normal control rats, the diabetic rats exhibited dull and wet hair and showed decreased body weight, increased blood glucose, urinary protein content, 24-h urine volume, blood creatinine, and kidney mass with obvious swelling and deformation of the glomeruli, narrowing of the renal tubules, decreased SOD activity and increased MDA content, lowered p-mTOR/mTOR and p-AKT/AKT ratios and increased LC3 â ¡/â ratio and p62 protein expression in the kidney tissue. The diabetic rats receiving carnosine treatments had dry hair with normal luster and showed increased body weight and slightly decreased blood glucose, urinary protein content, 24-h urine volume, blood creatinine, and kidney mass. The treatment also improved renal pathology, increased SOD activity, decreased MDA content, increased p-mTOR/mTOR and p-AKT/AKT ratios and lowered LC3 â ¡/â ratio and p62 protein expression in renal tissue of the diabetic rats. CONCLUSION: Carnosine offers protection against nephropathy in rats with DM possibly by inhibiting oxidative stress, activating the AKT/mTOR pathway, and restoring autophagy in the kidneys.
Subject(s)
Carnosine , Diabetes Mellitus, Experimental , Diabetic Nephropathies , Rats , Animals , Diabetic Nephropathies/metabolism , Proto-Oncogene Proteins c-akt/metabolism , Carnosine/pharmacology , Carnosine/metabolism , Diabetes Mellitus, Experimental/metabolism , Blood Glucose/metabolism , Creatinine , Rats, Sprague-Dawley , Kidney , TOR Serine-Threonine Kinases/metabolism , Body Weight , Superoxide Dismutase/metabolism , AutophagyABSTRACT
Objective: To explore the relationship between pathogenic gene, mutation and phenotype of left ventricular noncompaction (LVNC) patients and their family members. Methods: The subjects were the proband with LVNC and her family members. The medical history including electrocardiogram, echocardiography and cardiac magnetic resonance examination of the proband and family members were collected. Whole exome sequencing of the proband was performed, bioinformatics analysis focused on the genes related to hereditary cardiomyopathy. Candidate pathogenic sites were validated by Sanger sequencing. The clinical interpretation of sequence variants were classified according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results: The proband carried a heterozygous variation of the MYBPC3 gene c.C2827T and the MYH7 gene c.G2221C. The proband's sister carried heterozygous variation of MYBPC3 gene c.C2827T. According to the ACMG guidelines, the variant was determined to be pathogenic. Conclusion: The missense variant of MYBPC3 gene c.C2827T and MYH7 gene c.G2221C are identified from the proband with LVNC and her family member, which provides a genetic basis for clinical diagnosis and genetic counseling of the patients and the family members with LVNC.
Subject(s)
Heart Defects, Congenital , Female , Humans , Cardiac Myosins/genetics , Mutation , Mutation, Missense , Myosin Heavy Chains/genetics , Pedigree , PhenotypeABSTRACT
Objective: To investigate the levels of tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6) and interleukin-1beta (IL-1ß) in the plasma and bronchoalveolar lavage fluid of silicosis patients with artificial quartz stone plate processing. Methods: In January 2022, 10 patients with artificial quartz stone plate processing silicosis and 20 patients with common silicosis who were hospitalized and diagnosed in a hospital at Zhejiang Province from June 2019 to December 2021 were retrospectively selected as the research objects, and 30 healthy people were selected as the control group during the same period. Plasma of all subjects and bronchoalveolar lavage fluid of all patients were collected. The levels of TNF-α, IL-6 and IL-1ß in plasma and bronchoalveolar lavage fluid were detected by enzyme-linked immunosorbent assay and were analyzed. Results: The levels of TNF-α, IL-6 and IL-1ß in the plasma of patients with silicosis were higher than those of the control group (P<0.05), and the levels of TNF-α and IL-1ß in the plasma of silicosis patients with artificial quartz stone plate processing were higher than those of common silicosis patients (P<0.05). The levels of TNF-α and IL-1ß in plasma of artificial quartz stone plate processing silicosis patients were higher than those of common silicosis patients at the same silicon stage (P<0.05). The levels of IL-1ß in bronchoalveolar lavage fluid of silicosis patients with artificial quartz stone plate processing was higher than that of patients with common silicosis (P<0.05) . Conclusion: The levels of TNF-α, IL-6 and IL-1ß in silicosis patients with artificial quartz stone plate processing are higher than those in patients with common silicosis, which may be related to dust components they are exposed to.
Subject(s)
Quartz , Silicosis , Humans , Interleukin-6 , Tumor Necrosis Factor-alpha , Retrospective Studies , Bronchoalveolar Lavage FluidABSTRACT
Objective: To explore the association between internet use and healthy lifestyles in urban adults. Methods: From May to August, 2022, a face-to-face questionnaire survey was conducted in residents aged 18-64 years selected in the urban area of Hangzhou by integrated cluster stratified random sampling and Kish grid method. The information about internet use included the internet use time in the past 7 days and 12 kinds of internet use contents. Using factor analysis and K-means clustering, three types of internet use were summarized, i.e. general type, video game type and working/learning type. Healthy lifestyles were defined as active physical activity, healthy diet habit, non-smoking, non-drinking, healthy weight, and healthy waist circumference. The correlations between internet use and healthy lifestyles were evaluated by using binary logistic regression and multinomial logistic regression analyses. Results: A total of 1 624 participants were included. After adjusting for potential confounding factors, the longer internet use time group (≥8.5 h/d) was less likely to have healthy weight (OR=0.59, 95%CI:0.41-0.85) and 5-6 healthy lifestyles (OR=0.55, 95%CI: 0.32-0.96) compared with those with shorter internet use time group (<2.5 h/d). For different types of internet use, it was found that compared with working/learning type group, the general type group was less likely to have healthy diet habits (OR=0.63, 95%CI: 0.46-0.86), non-drinking (OR=0.68, 95%CI: 0.47-0.99), healthy waist circumference (OR=0.59, 95%CI: 0.42-0.84) and 5-6 healthy lifestyles (OR=0.40, 95%CI: 0.23-0.69), the video game type group was less likely to have active physical activity (OR=0.73, 95%CI: 0.55-0.97) and healthy diet habits (OR=0.79, 95%CI: 0.62-0.99). Conclusion: Too long internet use (≥8.5 h/d), general type and video game type of internet use were associated with unhealthy lifestyles.
Subject(s)
Healthy Lifestyle , Internet Use , Humans , Adult , Diet, Healthy , China/epidemiology , Life StyleABSTRACT
Objective: To analyze the level of chromosome aberration in lymphocytes of medical radiation workers and its influencing factors. Methods: From July to September 2020, 252 medical workers in a tertiary hospital were selected as the study subjects and 107 preserviceworkers were selected as the control group. The Chromosomal aberrations of peripheral blood lymphocytes were measured using conventional cytogenetic analysis method, and the differences were analyzed. Results: The frequencies of dicentric puls centric ring, total chromosome-type aberrations, and abnormal detection rate in the radiation group were significantly higher than those in the control group (Z=2.59, 3.74, 9.99, P<0.05). There was significant difference in the frequencies of dicentric plus centric ring and total chromosome-type aberrations among different types of work (χ(2)=8.59, 8.17, 11.39, P<0.05), and the frequencies of dicentric plus centric ring were significantly higher in the interventional radiology group than those in diagnostic radiology (χ(2)=2.90, P<0.05), While the rates of acentric fragment and total chromosome-type aberrations were significantly higher in the nuclear medicine group than those in diagnostic radiology (χ(2)=2.81, 3.19, P<0.05). The difference in the abnormal detection rate of chromosome aberrations between different types of work was statistically significant (P<0.05), and the rate in the interventional radiology group was significantly higher than that in the diagnostic radiology group (χ(2)=7.66, P<0.05). There was no significant difference in chromosome aberration level and abnormal detection rate among different working ages (P>0.05). Poisson regression analysis indicated that the type of work is a risk factor for chromosomal aberration [IRR=2.31 (nuclear medicine group), 1.66 (Radiation therapy), and 1.78 (interventional group) ; P<0.05]. Conclusion: Ionizing radiation causes certain radiation damage to medical radiology workers, and the frequencies of chromosome aberration in the radiation workers of nuclear medicine and interventional radiology groups are relatively high, so radiation protection should be strengthened to ensure the health of relevant workers.
Subject(s)
Chromosome Aberrations , Radiology , Humans , Tertiary Care Centers , Control Groups , LymphocytesABSTRACT
Molar-incisor hypomineralization (MIH) is defined as an enamel mineralization defect caused by systemic factors, which is characterized by demarcated opacities. These opacities are liable to result in brittle hypomineralized enamel breakdown, which expediting the eventual development of cavities, even tooth loss. Early diagnosis and prompt intervention are essential. The MIH scoring system based on the diagnostic criteria of the European Academy of Paediatric Dentistry (EAPD) is internationally recognized. This system is particularly helpful to diagnose and evaluate the MIH, as well as conductive to the performance of epidemiological investigations. This paper gives a presentation on the EAPD judgment criteria and scoring system as well as their applications, based on the current situation of MIH studies and our findings of MIH epidemiological investigation.
ABSTRACT
Based on first-principles density functional theory and nonequilibrium Green's function, we study the electronic band structures, the electronic transport properties, and the optical absorption of bilayer blue phosphorene nanoribbons (BPNRs). Both bilayer armchair BPNRs (a-BPNRs) and zigzag BPNRs (z-BPNRs) behave as semiconductors in the narrow nanoribbon case and metals in the wide nanoribbon case, sharply different from their monolayer counterparts where the monolayer a-BPNRs (z-BPNRs) are always semiconducting (metallic). This indicates that interlayer couplings or the increasing layer number may induce the switching of the conductivity of the monolayer BPNRs, which is absent in graphene and phosphorene nanoribbons. Furthermore, we explore the edge states of the energy bands near Fermi energy, and find that there are almost no pure edge-state band branches in the bilayer BPNRs, which can be attributed to the interlayer couplings between the edge-states in one layer and the bulk-states in the other. Consequently, the resulting complex band structures cannot be directly analyzed any more in the framework of the two-body coupling picture just according to the simple band structures of the monolayer BPNRs. Finally, we present the current-voltage characteristics and the optical absorption of the bilayer a-BPNRs and z-BPNRs. The influences of the nanoribbon width and the interlayer couplings on the current and the anisotropic optical absorption can be understood based on the complex energy band structures. This research should be an important reference of extending the field of BPNRs from the monolayer to the bilayer case, and deepen the understanding of the difference between the monolayer and bilayer nanoribbons in different materials.
ABSTRACT
Objective: The study investigated the clinical distribution, antimicrobial resistance and epidemiologic characteristics of hypervirulent Carbapenem-resistant Klebsiella pneumoniae (hv-CRKP) in a hospital in Henan Province to provide a scientific basis for antibiotic use and nosocomial infection prevention and control. Methods: A retrospective analysis of the clinical data from the cases was carried out in this study. Clinical data of patients infected with the CRKP strain isolated from the clinical microbiology laboratory of Henan Provincial Hospital of Traditional Chinese Medicine from January 2020 to December 2022 were retrospectively analyzed. A string test, virulence gene screening, serum killing, and a G. mellonella infection model were used to screen hv-CRKP isolates. The clinical characteristics of hv-CRKP and the drug resistance rate of hv-CRKP to twenty-five antibiotics were analyzed using WHONET 5.6. Carbapenemase phenotypic characterization of the hv-CRKP was performed by colloidal gold immunochromatographic assay, and Carbapenemase genotyping, multi-locus sequence typing (MLST) and capsular serotyping of hv-CRKP isolates were performed by PCR and Sanger sequencing. Results: A total of non-duplicate 264 CRKP clinical isolates were detected in the hospital from 2020 to 2022, and 23 hv-CRKP isolates were detected, so the corresponding detection rate of hv-CRKP was 8.71% (23/264). The hv-CRKP isolates in this study were mainly from the intensive care unit (10/23) and neurosurgery department (8/23), and the main sources of hv-CRKP isolates were sputum (10/23) and bronchoalveolar lavage fluid (6/23). The hv-CRKP isolates in this study were highly resistant to ß-lactam antibiotics, fluoroquinolones and aminoglycosides, and were only susceptible to colistin, tigecycline and ceftazidime/avibactam. The detection rate of the blaKPC-2 among 23 hv-CRKP isolates was 91.30% (21/23) and none of the class B and class D carbapenemases were detected. Results of MLST and capsular serotypes showed that ST11 type hv-CRKP was the dominant strain in the hospital, accounting for 56.52% (13/23), and K64 (9/13) and KL47 (4/13) were the major capsular serotypes. Conclusion: The hv-CRKP isolates from the hospital are mainly from lower respiratory tract specimens from patients admitted to the intensive care department and the drug resistance is relatively severe. The predominant strains with certain polymorphisms are mainly composed of the KPC-2-producing ST11-K64 and ST11-KL47 hv-CRKP isolates in the hospital.