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Although the knee joint (KNJ) and temporomandibular joint (TMJ) all belong to the synovial joint, there are many differences in developmental origin, joint structure and articular cartilage type. Studies of joint development in embryos have been performed, mainly using poultry and rodents. However, KNJ and TMJ in poultry and rodents differ from those in humans in several ways. Very little work has been done on the embryonic development of KNJ and TMJ in large mammals. Several studies have shown that pigs are ideal animals for embryonic development research. Embryonic day 30 (E30), E35, E45, E55, E75, E90, Postnatal day 0 (P0) and Postnatal day 30 (P30) embryos/fetuses from the pigs were used for this study. The results showed that KNJ develops earlier than TMJ. Only one mesenchymal condensate of KNJ is formed on E30, while two mesenchymal condensates of TMJ are present on E35. All structures of KNJ and TMJ were formed on E45. The growth plate of KNJ begins to develop on E45 and becomes more pronounced from E55 to P30. From E75 to E90, more and more vascular-rich cartilage canals form in the cartilage regions of both joints. The cartilaginous canal of the TMJ divides the condyle into sections along the longitudinal axis of the condyle. This arrangement of cartilaginous canal was not found in the KNJ. The chondrification of KNJ precedes that of TMJ. Ossification of the knee condyle occurs gradually from the middle to the periphery, while that of the TMJ occurs gradually from the base of the mandibular condyle. In the KNJ, the ossification of the articular condyle is evident from P0 to P30, and the growth plate is completely formed on P30. In the TMJ, the cartilage layer of condyle becomes thinner from P0 to P30. There is no growth plate formation in TMJ during its entire development. There is no growth plate formation in the TMJ throughout its development. The condyle may be the developmental center of the TMJ. The chondrocytes and hypertrophic chondrocytes of the growth plate are densely arranged. The condylar chondrocytes of TMJ are scattered, while the hypertrophic chondrocytes are arranged. Embryonic development of KNJ and TMJ in pigs is an important bridge for translating the results of rodent studies to medical applications.
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Articulación de la Rodilla , Articulación Temporomandibular , Animales , Porcinos/embriología , Articulación Temporomandibular/embriología , Articulación Temporomandibular/crecimiento & desarrollo , Articulación de la Rodilla/embriología , Articulación de la Rodilla/crecimiento & desarrollo , Cartílago Articular/embriología , Cartílago Articular/crecimiento & desarrollo , Femenino , Desarrollo Embrionario/fisiología , Embrión de MamíferosRESUMEN
Nitrate (NO3-) pollution in irrigation canals is of great concern because it threatens canal water use; however, little is known about it at present. Herein, a combination of positive matrix factorization (PMF), isotope tracers, and Mixing Stable Isotope Analysis in R (MixSIAR) was developed to identify anthropogenic impacts and quantitative sources of NO3- in a rural-urban canal in China. The NO3- concentration (0.99-1.93 mg/L) of canal water increased along the flow direction and was higher than the internationally recognized eutrophication risk value in autumn and spring. The inputs of the Fuhe River, NH4+ fertilizer, soil nitrogen, manure & sewage, and rainfall were the main driving factors of canal water NO3- based on principal component analysis and PMF, which was supported by evidence from δ15N/δ18O-NO3-. According to the chemical and isotopic analyses, nitrogen transformation was weak, highlighting the potential of δ15N/δ18O-NO3- to trace NO3- sources in canal water. The MixSIAR and PMF results with a <15% divergence emphasized the predominance of the Fuhe River (contributing >50%) and anthropogenic impacts (NH4+ fertilizer plus manure & sewage, >37%) on NO3- in the entire canal, reflecting the effectiveness of the model analysis. According to the MixSIAR model, (1) higher NO3- concentration in canal water was caused by the general enhancement of human activities in spring and (2) NO3- source contributions were associated with land-use patterns. The high contributions of NH4+ fertilizer and manure & sewage showed inverse spatial variations, suggesting the necessity of reducing excessive fertilizer use in the agricultural area and controlling blind wastewater release in the urban area. These findings provide valuable insights into NO3- dynamics and fate for sustainable management of canal water resources. Nevertheless, long-term chemical and isotopic monitoring with alternative modeling should be strengthened for the accurate evaluation of canal NO3- pollution in future studies.
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Monitoreo del Ambiente , Nitratos , Isótopos de Nitrógeno , Contaminantes Químicos del Agua , Nitratos/análisis , Monitoreo del Ambiente/métodos , Contaminantes Químicos del Agua/análisis , China , Isótopos de Nitrógeno/análisis , Isótopos de Oxígeno/análisis , Fertilizantes/análisis , Ríos/química , Ciudades , Riego AgrícolaRESUMEN
The exploration of the planet Mars still is a top priority in planetary science. The Mars surface is extensively covered with soil-like material. Current wheeled rovers on Mars have been occasionally experiencing immobilization instances in unexpectedly weak terrains. The development of Mars rovers adaptable to these terrains is instrumental in improving exploration efficiency. Inspired by locomotion of the desert lizard, this paper illustrates a biomimetic quadruped robot with structures of flexible active spine and toes. By accounting for spine lateral flexion and its coordination with four leg movements, three gaits of tripod, trot and turning are designed. The motions corresponding to the three gaits are conceptually and numerically analyzed. On the granular terrains analog to Martian surface, the gasping forces by the active toes are estimated. Then traversing tests for the robot to move on Martian soil surface analog with the three gaits were investigated. Moreover, the traversing characteristics for Martian rocky and slope surface analog are analyzed. Results show that the robot can traverse Martian soil surface analog with maximum forward speed 28.13 m s-1turning speed 1.94° s-1and obstacle height 74.85 mm. The maximum angle for climbing Martian soil slope analog is 28°, corresponding slippery rate 76.8%. It is predicted that this robot can adapt to Martian granular rough terrain with gentle slopes.
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Marte , Robótica , Medio Ambiente Extraterrestre , Biomimética , SueloRESUMEN
Four-membered carbocycles are fundamental substructures in bioactive molecules and approved drugs and serve as irreplaceable building blocks in organic synthesis. However, developing efficient protocols furnishing diversified four-membered ring compounds in a highly regio-, diastereo-, and enantioselective fashion remains challenging but very desirable. Here, we report the unprecedented asymmetric transfer hydrogenation of cyclobutenediones. The reaction can selectively afford three types of four-membered products in high yields with high stereoselectivities, and the highly functionalized products enable a series of further transformations to form more diversified four-membered compounds. Asymmetric synthesis of di-, tri-, and tetrasubstituted bioactive molecules has also been achieved. Systematic mechanistic studies and theoretical calculations have revealed the origin of the regioselectivity, the key hydrogenation transition state models, and the sequence of the double and triple hydrogenation processes. The work provides a new choice for the catalytic asymmetric synthesis of cyclobutanes and related structures and demonstrates the robustness of asymmetric transfer hydrogenation in the accurate selectivity control of highly functionalized substrates.
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INTRODUCTION: Pneumonia is a common and devastating complication following hip fracture surgery in older patients. Time to surgery is a potentially modifiable factor associated with improved prognosis, and we aim to quantify the time-effect relationship between time to surgery and in-hospital postoperative pneumonia (IHPOP) and identify the effect of delayed surgery on the risk of IHPOP. METHODS: We analyzed clinical data of older hip fracture patients (≥60 years) undergoing surgical treatments at a tertiary referral trauma center between 2015 and 2020. Restricted cubic spline (RCS) was used to fit the time-effect relationship between time to surgery and IHPOP. Based on the results of RCS, we divided patients into two groups of "early surgery" and "delayed surgery." A 1:1 propensity score matching (PSM) analysis and multivariate conditional logistic regression analysis were performed to minimize the selection bias and determine the association magnitude. Subgroup analysis was conducted to assess potential interaction effects between delayed surgery and common risk factors for IHPOP. RESULTS: 3,118 eligible patients were included. The RCS curve showed an inverse S-shape trend and the relative risk of IHPOP decreased in the range of days 2-3 and increased on day 1 and day 3 or more post-injury, with the lowest point on day 3. PSM yielded 1,870 matched patients and delayed surgery (>3 days) was identified to be independently associated with IHPOP (relative ratio, 1.66; 95% confidence interval, 1.12-2.46; p value, 0.011). We observed positive interaction effects between delayed surgery and age of 80 years or more, female gender, COPD, heart disease, ASA score ≥3, anemia, and hypoproteinemia. CONCLUSION: The relative risk of IHPOP decreased in the range of 2-3 days and increased on day 1 and day 3 or more post-injury. Delayed surgery (>3 days) was identified to be independently associated with a 1.66-fold increased risk of IHPOP.
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Fracturas de Cadera , Neumonía , Humanos , Femenino , Anciano , Anciano de 80 o más Años , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Fracturas de Cadera/complicaciones , Fracturas de Cadera/cirugía , Factores de Riesgo , Neumonía/etiología , Neumonía/complicaciones , Hospitales , Estudios RetrospectivosRESUMEN
This case report describes a 47-year-old woman with systemic lupus erythematosus (SLE) complicated by Libman-Sacks endocarditis (LSE) who developed multiple organ dysfunction after mitral valve replacement surgery. The patient presented with a 5-day history of cough, sputum, and fever. Transthoracic echocardiography showed significant vegetations on the mitral valve. Biopsy was performed, and the pathological diagnosis was SLE complicated by LSE. After the mitral valve replacement surgery, the patient developed clinical manifestations of hepatic and renal dysfunction, cardiopulmonary failure, oliguria, and shock. The clinical symptoms significantly improved after administration of mechanical ventilation, continuous renal replacement therapy, plasma exchange, anti-inflammatory and anti-infection treatments, immunomodulatory and immunosuppressive therapies, and low-molecular-weight heparin anticoagulation. Multiple organ dysfunction after mitral valve replacement in patients with SLE complicated by LSE has rarely been reported. This report discusses the clinical manifestations, pathogenesis, and treatment of this severe complication. We hope the sharing of our experience in this case will provide a clinical basis for the treatment of severe multiple organ dysfunction after mitral valve replacement in patients with SLE complicated by LSE.
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Endocarditis , Lupus Eritematoso Sistémico , Femenino , Humanos , Persona de Mediana Edad , Válvula Mitral/diagnóstico por imagen , Válvula Mitral/cirugía , Insuficiencia Multiorgánica/etiología , Lupus Eritematoso Sistémico/complicaciones , Pacientes , Endocarditis/complicacionesRESUMEN
In order to improve laser transmission efficiency at 1053 nm and 527 nm, a potassium deuterium phosphate (DKDP) crystal (a key component of high-power laser systems) needs a bi-layer antireflection coating system on its incident surface. UV-curable polysiloxane coatings with a refractive index varying from 1.500 to 1.485 were prepared through the polycondensation of a methacryloxy propyl trimethoxylsilane (MPS) monomer with a controllable degree of hydrolysis. Additionally, the influence rule of the coating structure on the refractive index was intensively studied, and the primary factors that dominate the hydrolysis process were discussed. Further refractive index adjustment was achieved using only a small amount of dopant based on the polysiloxane coating with refractive index of 1.485, allowing for high antireflection of the bi-layer coating system at desired wavelengths to be achieved. In addition, high laser damage resistance and remarkable mechanical properties of the coating were simultaneously realized through the incorporation of a minor quantity of dopants, which benefited from the successful modulation of the intrinsic refractive index of the polysiloxane coating.
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Objective: The aim of this study was to evaluate the efficacy and safety of the Chinese herbal formula San-Huang Gu-Ben Zhi-Ke (SHGBZK) as a treatment for patients with stable chronic obstructive pulmonary disease (COPD) diagnosed with lung-spleen Qi deficiency. Method: A randomized, double-blind, placebo-controlled trial was designed. 98 adults aged between 40 and 80 years with stable COPD diagnosed with lung-spleen Qi deficiency were included. All participants received basic treatment for COPD. Patients in the experimental group took SHGBZK, while the control group took placebo. The primary outcome was the frequency of acute exacerbation. The secondary outcomes were lung function, symptom score, exercise capacity and quality of life. Results: Of 98 patients who underwent randomization, 50 patients in the SHGBZK group and 48 in the placebo group were included in the full analysis set. After 24-week therapy and 28-week follow-up, patients in treatment group had significant improvements in symptom, exercise capacity and quality of life. After Subgroup analysis, the frequency of acute exacerbation in patients with a COPD Assessment Test (CAT) score of at least 10 or a modified Medical Research Council (mMRC) score of at least 2 was significantly lower in the SHGBZK group than in the placebo group. Lung function in patients with frequent exacerbation was significantly higher in the SHGBZK group than in the placebo group. The incidence of adverse events was generally similar in the two groups. Conclusion: SHGBZK had beneficial effects on symptom, exercise capacity and quality of life in stable COPD patients. SHGBZK also had the potential to reduce the frequency of exacerbation and improve lung function in specific groups of COPD patients. Clinical Trial Registration: https://www.chictr.org.cn/showproj.html?proj=26933, identifier ChiCTR1800016349.
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Background: There is still a large demand for effective treatments to delay disease deterioration in amyotrophic lateral sclerosis (ALS). Typical symptoms of ALS are considered "flaccidity syndrome" in traditional Chinese medicine (TCM). Huoling Shengji Granule (HLSJ) is a TCM formula used to treat flaccidity syndrome. Results of preclinical tests and a previous clinical study support HLSJ as a novel drug for ALS patients. This trial proposed to examine whether a 48-week course of HLSJ is effective and safe for ALS patients diagnosed with the Chinese medicine syndrome of spleen qi insufficiency and kidney yang deficiency. Methods and analysis: In this phase II, multicenter, randomized, double-blind, riluzole parallel-controlled, superiority-design study, eligible participants had the equal opportunity to be assigned to receive either HLSJ or riluzole randomly. Eleven specialized ALS centers in Mainland China will recruit 144 patients for this trial. The primary and secondary outcomes included the change in the ALSFRS-R score and the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) from baseline to Week 48. Discussion: Here, we endeavored to evaluate TCM for ALS using a standard evidence-based approach for the first time. In addition, the ROADS, a self-report linear-weighted questionnaire, was selected as a secondary outcome measure. We expect to offer a new reference for the outcome evaluation of ALS trials.Clinical trial registration:http://www.Chictr.org.cn, identifier ChiCTR2100044085.
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The purpose of this study is to analyze the damage of antireflective (AR) coating over potassium dihydrogen phosphate (KDP) crystal subjected to multi-pulse laser irradiation at low flux under vacuum. Fresh silica AR was characterized as a reference; Atomic Force Microscope (AFM), Scanning Electron Microscopy (SEM), profilometer, and Scanning Near-Field Optical Microscope Photo-induced Force Microscope (SNOM-PiFM) were employed to analyze the characteristics of coatings. The experimental results indicated that the damage of AR coating over the KDP crystal was mainly caused by partial exfoliation, which exposed silica particles beneath the surface. It was found that the accumulated tensile stress led to coating damage with the increase of laser pulse. The initial coating damage was observed to extend and interconnect to form large-area exfoliation. Splitting mechanism of SiO-Si TO3 was observed at vibration mode peaks of 1064 cm-1 and 1096 cm-1showing progressing irradiation damage. Based on this study, it would be helpful to suppress the damage probability of AR coating over KDP crystal applied in high-power laser systems. Moreover, the applicability of SNOM-PiFM method to study the Infrared Radiation (IR) spectra of ultra-thin coatings with transparent substrates was proposed.
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Objective:To study the clinical characteristics of neonatal gastric perforation (NGP) and risk factors of mortality.Methods:From January 2015 to May 2022, infants with NGP admitted to NICU of our hospital were retrospectively studied. They were assigned into the survival group and the death group. Clinical manifestations, laboratory and imaging results, surgical treatments and prognosis were compared and risk factors of mortality were determined.Results:A total of 27 infants with NGP were enrolled, including 17 males and 10 females. 24 were premature infants and 3 were term infants. 26 infants had low birth weight. 3 infants had neonatal resuscitation due to asphyxia, 10 received positive pressure ventilation before the onset of perforation symptoms, 2 showed gastrointestinal malformations and 3 with septic shock before surgery. The median age of onset was 2.0 d. The main presenting symptom was abdominal distension, with most perforations occurring at the greater curvature of the stomach. 20 cases had congenital gastric muscular layer defects. 21 cases survived and 6 cases died. Age of onset was later in the death group than the survival group [2.5 (2.0, 7.8) days vs. 1.9 (1.4, 3.0) days]. The survival group had higher preoperative platelet count than the death group [(218±80) ×10 9/L vs. (126±73)×10 9/L]. The incidences of thrombocytopenia, septic shock and multi-organ dysfunction syndrome before surgery in the survival group were significantly lower than the death group ( P<0.05). Logistic regression analysis showed that preoperative thrombocytopenia was a risk factor for NGP mortality ( OR=19.000, 95% CI 2.029-177.932, P=0.010). Conclusions:NGP is more common in male infants, premature infants and low birth weight infants. The most common etiology is congenital gastric muscular layer defects. The mortality rate is high and preoperative thrombocytopenia is a risk factor for mortality.
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Objective: To investigate the clinicopathological characteristics of plurihormonal PIT1-lineage pituitary neuroendocrine tumors. Methods: Forty-eight plurihormonal PIT1-lineage tumors were collected between January 2018 and April 2022 from the pathological database of Sanbo Brain Hospital, Capital Medical University. The related clinical and imaging data were retrieved. H&E, immunohistochemical and special stains were performed. Results: Out of the 48 plurihormonal PIT1-lineage tumors included, 13 cases were mature PIT1-lineage tumors and 35 cases were immature PIT1-lineage tumors. There were some obvious clinicopathological differences between the two groups. Clinically, the mature plurihormonal PIT1-lineage tumor mostly had endocrine symptoms due to increased hormone production, while a small number of immature PIT1-lineage tumors had endocrine symptoms accompanied by low-level increased serum pituitary hormone; patients with the immature PIT1-lineage tumors were younger than the mature PIT1-lineage tumors; the immature PIT1-lineage tumors were larger in size and more likely invasive in imaging. Histopathologically, the mature PIT1-lineage tumors were composed of large eosinophilic cells with high proportion of growth hormone expression, while the immature PIT1-lineage tumors consisted of chromophobe cells with a relatively higher expression of prolactin; the mature PIT1-lineage tumors had consistently diffuse cytoplasmic positive staining for keratin, while the immature PIT1-lineage tumors had various expression for keratin; the immature PIT1-lineage tumors showed more mitotic figures and higher Ki-67 proliferation index; in addition, 25.0% (12/48) of PIT1-positive plurihormonal tumors showed abnormal positive staining for gonadotropin hormones. There was no significant difference in the progression-free survival between the two groups (P=0.648) by Kaplan-Meier analysis. Conclusions: Plurihormonal PIT1-lineage tumor belongs to a rare type of PIT1-lineage pituitary neuroendocrine tumors, most of which are of immature lineage. Clinically increased symptoms owing to pituitary hormone secretion, histopathologically increased number of eosinophilic tumor cells with high proportion of growth hormone expression, diffusely cytoplasmic keratin staining and low proliferative activity can help differentiate the mature plurihormonal PIT1-lineage tumors from the immature PIT1-lineage tumors. The immature PIT1-lineage tumors have more complicated clinicopathological characteristics.
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Humanos , Tumores Neuroendocrinos , Neoplasias Hipofisarias/patología , Hormonas Hipofisarias , Hormona del Crecimiento/metabolismo , QueratinasRESUMEN
ObjectiveAnalyze the current situation, hotspots and development trends of sarcopenia animal model to provide research direction and basic information for sarcopenia animal model research. MethodsEnglish literature of research on animal models of sarcopenia was retrieved from the Web of Science core data (WOS) set from 1900-01-01 to 2022-12-31. Chinese literature related to animal models of sarcopenia was retrieved from CNKI database between 1915 and 2022. The bibliometric analysis software VOSviewer was used to explore the countries, orgonizations, authors, hotspots and frontier directions in these studies. ResultsA total of 2 819 articles on animal models of sarcopenia were retrieved from WOS core database. The first paper was published in 1995. The United States has the largest number of animal model studies of sarcopenia with 1 105 articles. The institution with the most published articles is the University of Florida in the United States, with 69 articles. The University of Hong Kong has the highest number of publications in China, with 20 articles. American author Van Remmen H, with 50 publications, is the author of the most articles. The journal with the largest number of articles published on animal models of sarcopenia is the American journal called FASEB Journal, with 196 articles. In total, 423 articles on animal models of sarcopenia were retrieved from the CNKI database. Author LI Zhuyi has published 19 articles, and is the author of the most articles in China. The keyword co-occurrence clustering analysis of WOS literature search found that the research focus on animal model of sarcopenia can be summarized as the correlation between sarcopenia and metabolism, cytology and regenerative medicine of sarcopenia animal models, the study of sarcopenia animal models in bone, muscle, nerve and exercise therapy. The retrieval results of CNKI database revealed that the most extensive research was about on the model of denervated sarcopenia, and researches on the effects of Chinese medicine on sarcopenia were also widely reported. Through reading the full articles or abstracts of the literature, the animal models of sacopenia mainly include natural aging model, genetic modification model, high-fat diet induction model, disuse model, hormone induction model and complex sarcopenia models of other diseases. ConclusionIn recent years, the study on animal model of sarcopenia has become a hotspot at home and abroad.The bibliometric analysis provides a basis for the research of animal models of sarcopenia in terms of research direction, hotspots, model animal selection, animal model making, and domestic and international communication and cooperation.
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Background: Hip arthroplasty is in increasing demand with the aging of the world population, and early infections, such as pneumonia, surgical site infection (SSI), and urinary tract infection (UTI), are uncommon but fatal complications following hip arthroplasty. This study aimed to identify preoperative risk factors independently associated with early infections following primary arthroplasty in geriatric hip fracture patients, and to develop a prediction nomogram. Methods: Univariate and multivariate logistical analyses were performed to identify the independent risk factors for early infections, which were combined and transformed into a nomogram model. The prediction model was evaluated by using the area under the receiver operating characteristic curve (AUC), Hosmer-Lemeshow test, concordance index (C-index), 1000 bootstrap replications, decision curve analysis (DCA), and calibration curve. Results: One thousand eighty-four eligible patients got included and 7 preoperative variables were identified to be independently associated with early infections, including heart disease (odds ratio (OR): 2.17; P: 0.026), cerebrovascular disease (OR: 2.25; P: 0.019), liver disease (OR: 8.99; P: <0.001), time to surgery (OR: 1.10; P: 0.012), hematocrit (
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Artroplastia de Reemplazo de Cadera , Fracturas de Cadera , Humanos , Anciano , Nomogramas , Artroplastia de Reemplazo de Cadera/efectos adversos , Estudios Retrospectivos , Factores de Riesgo , Fracturas de Cadera/cirugía , Análisis FactorialRESUMEN
Background: Eosinophils were common inflammatory cells involved in the occurrence and development of various inflammatory diseases. Multiple recent studies have pointed to the increasingly important role of eosinophils in respiratory diseases. This article aims to compare the expression differences of blood eosinophil counts between asthma, chronic obstructive pulmonary disease (COPD), and asthma-COPD overlap (ACO). Methods: Patients with asthma, COPD, and ACO who were seen in the First Affiliated Hospital of Guangzhou Medical University from January 2012 to June 2019 were included. We collected information such as age, gender, diagnosis, the eosinophil counts from the medical records. Moreover, the levels of 10 cytokines in the plasma of each group were detected by using the Meso Scale Discovery method. Results: We included 9787 patients with asthma, 15806 patients with COPD, and 831 ACO patients. From our results, it can be first found that eosinophil levels were age-related in the three diseases (asthma and ACO: p < 0.001; COPD: P = 0.001); in asthma and COPD, the number of eosinophils in males was more significant than that in females (asthma: p < 0.001; COPD: p = 0.012). Second, asthma patients had higher blood eosinophil counts than those with COPD and ACO (p < 0.001). Moreover, we found out that eosinophil levels were highly expressed in the stable group of all three diseases. Finally, we found that most cytokines in ACO patients showed a downward trend when the level of eosinophils was low, whereas the results were reversed in asthma patients; 7 cytokines had similar trends in COPD and ACO patients. Conclusions: In conclusion, eosinophils have their own unique endotypes in asthma, COPD, and ACO patients, which were reflected in the fluctuation of their levels and changes in cytokine secretion.
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Asma , Enfermedad Pulmonar Obstructiva Crónica , Masculino , Femenino , Humanos , Eosinófilos , Asma/epidemiología , Recuento de Leucocitos , CitocinasRESUMEN
OBJECTIVE: To explore the clinical characteristics of a child with early-onset infantile epileptic encephalopathy type 8 associated with synonymous variant of ARHGEF9 gene. METHODS: Clinical data of the patient was summarized. The child and his parents were subjected to trio-whole exome sequencing. RESULTS: The child has presented with global developmental delay, epilepsy, impulsive behavior, hypersensitivity to sound, and mental retardation. He was found to harbor a de novo synonymous variant c.741C>T (p.Cys247Cys) of the ARHGEF9 gene. RNA splicing analysis confirmed that the variant has led to abnormal splicing of exon 5, resulting in a 55-bp deletion. CONCLUSION: The clinical features of ARHGEF9 gene-related early-onset infantile epileptic encephalopathy type 8 includes mental and motor developmental delay, epilepsy, auditory allergy, and hyperactivity impulsivity. For synonymous variant, in vitro study and transcriptional experiment may be carried out to evaluate its functional and splicing effect. Above finding has enriched the phenotypic and genotypic spectrum of the ARHGEF9 gene.
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Epilepsia , Discapacidad Intelectual , Espasmos Infantiles , Niño , Epilepsia/genética , Exones , Humanos , Lactante , Discapacidad Intelectual/genética , Masculino , Factores de Intercambio de Guanina Nucleótido Rho/genética , Espasmos Infantiles/genéticaRESUMEN
INTRODUCTION: Mobile health (mHealth)/electronic health (eHealth) have the effect of facilitating weight loss in overweight and obese populations. However, studies have shown varied results and relatively high heterogeneity in the efficacy of mHealth/eHealth interventions. The aim of the paper was to systematically summarise published studies about the weight loss efficacy of mHealth/eHealth. METHODS AND ANALYSIS: A comprehensive review of PubMed, Embase and Cochrane Library databases published from inception to 21 March 2021 will be conducted. The selected articles are meta-analyses that integrated the studies, which evaluated efficacy of mHealth/eHealth. Two people will select eligible articles and extract data independently. Any disputes will be resolved by discussion or the arbitration of a third person. The methodological quality of the included meta-analyses will be assessed with AMSTAR V.2 and the quality of evidence will be obtained with Grade of Recommendations Assessment, Development and Evaluation (GRADE). The study selection process will be presented using a flowchart. We will reanalyse each outcome with random effect methods. If possible, we will use funnel plot and Egger's test to evaluate if publication bias existed. ETHICS AND DISSEMINATION: Ethical approval is not required for the study, as we collected data only from available published materials. This umbrella review will also be submitted to a peer-reviewed journal for publication after completion. PROSPERO REGISTRATION NUMBER: CRD42021247006.
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Telemedicina , Electrónica , Humanos , Metaanálisis como Asunto , Obesidad/terapia , Sobrepeso , Literatura de Revisión como Asunto , Telemedicina/métodos , Pérdida de PesoRESUMEN
Background: Nonspecific orbital inflammation is a common ophthalmopathy with a high prevalence among adult females. Yet, its molecular mechanisms behind are poorly understood. Regulation of gene expression probably plays an important role in this disease. Thus, we utilized gene coexpression networks to identify key modules and hub genes involved in nonspecific orbital inflammation. Methods: Data of gene expression in nonspecific orbital inflammation samples (n = 61) and healthy samples (n = 28) were obtained from the public Gene Expression Omnibus database. Afterward, differentially expressed genes were performed. Then, weighted correlation network analysis was done to define the key modules. Next, functional enrichment analysis was conducted by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway in key modules. Finally, a protein-protein interaction network and Cytohubba plugin were used to screen hub genes. Results: Differential expression of 716 genes was identified, among which 169 genes were upregulated and 547 genes were downregulated in the nonspecific orbital inflammation group. In weighted correlation network analysis, we clarified 2 key modules (MEturquoise and MEblue) that are likely to play key roles in nonspecific orbital inflammation. Functional enrichment analysis indicated that these genes are predominately involved in immune response and matrix homeostasis. In addition, among 2 key modules, there are 20 hub genes identified. Conclusion: With this new approach, we identified several genes that could be critical to pathologies of nonspecific orbital inflammation. These findings may contribute to further therapeutic target development.
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Perfilación de la Expresión Génica , Redes Reguladoras de Genes , Femenino , Ontología de Genes , Humanos , Inflamación/genética , Mapas de Interacción de ProteínasRESUMEN
The fact that most of the patients with preoperative DVTs after calcaneal fractures are asymptomatic brought challenges to the early intervention, and periodic imaging examinations aggravated the financial burden of the patients in preoperative detumescence period. This study aimed to use routine clinical data, obtained from the database of Surgical Site Infection in Orthopaedic Surgery (SSIOS), to construct and validate a nomogram for predicting preoperative DVT risk in patients with isolated calcaneal fracture. The nomogram was established base on 7 predictors independently related to preoperative DVT. The performance of the model was tested by concordance index (C-index), receiver operating characteristic (ROC) curve, calibration curve, and decision curve analysis (DCA), and the results were furtherly verified internally and externally. 952 patients were enrolled in this study, of which 711 were used as the training set. The AUC of the nomogram was 0.870 in the training set and 0.905 in the validation set. After internal verification, the modified C-index was 0.846. Calibration curve and decision curve analysis both performed well in the training set and validation set. In short, we constructed a nomogram for predicting preoperative DVT risk in patients with isolated calcaneal fracture and verified its accuracy and clinical practicability.
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Traumatismos del Tobillo , Fracturas Óseas , Trombosis de la Vena , Fracturas Óseas/cirugía , Humanos , Nomogramas , Estudios Retrospectivos , Factores de Riesgo , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/etiologíaRESUMEN
It was pointed out in Opinions on Promoting the Inheritance, Innovation and Development of Traditional Chinese Medicine issued by the State Council in 2019 that 100 varieties of traditional Chinese medicine(TCM) with unique curative effects should be screened out within about three years. Due to the multi-component and multi-target mechanisms of TCM varieties, it is difficult to directly and simply evaluate their multi-dimensional clinical value using methods applicable to chemical or biological agents. The heterogeneity of outcomes for similar TCM makes it difficult to determine the advantages of similar products. The fuzzy comprehensive evaluation method that is developed on the basis of core outcome set and fuzzy mathematics for clinical efficacy evaluation of TCM may solve these problems. This study developed a fuzzy comprehensive evaluation model for the clinical efficacy evaluation of Chinese patent me-dicines for coronary heart disease and angina pectoris, and selected the previous normative studies with complete or incomplete data for verifying the model application. The results showed that original studies with complete data failed to evaluate and compare the comprehensive efficacy of different interventions. The original research only mentioned the advantages and disadvantages of different interventions in different aspects. The comprehensive clinical efficacy of three different interventions obtained through fuzzy comprehensive evaluation was all graded as level â ¡. The original research with incomplete data drew the same conclusions as the fuzzy comprehensive evaluation, and the results of fuzzy comprehensive evaluation can provide more comprehensive information. Therefore, the fuzzy comprehensive evaluation shows the products with overall advantages of clinical efficacy, which may become a feasible method for the screening of TCM.