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Objective: To evaluate auditory spatial discrimination capabilities in patients with mild to moderately severe symmetrical sensorineural hearing loss (SNHL) and to compare the impact of different psychophysical testing methods on Minimum Audible Angle (MAA) and test duration. Methods: A total of 105 symmetrical SNHL patients aged from 18 to 60 years old were enrolled from April to July 2023, including 56 males and 49 females. They were divided into three groups based on PTA: mild, moderate, and moderately severe hearing loss, with 35 individuals in each group. Additionally, a control group of 35 individuals with normal hearing was tested, including 18 males and 17 females. Participants underwent four distinct psychophysical discrimination tests: the block up-down, 1-up/1-down, 1-up/2-down, and 1-up/3-down procedures. We recorded the MAA and test duration for each. We employed repeated measures of ANOVA to compare the MAA and test duration across different methods and groups, and Pearson's correlation to assess the relationship between MAA and degree of hearing loss. Results: MAA of sound localization in patients with symmetrical SNHL was significantly positively correlated with the degree of hearing loss (r=0.59, P<0.01). Significant deterioration in MAA was observed as hearing loss progressed to the moderate level (PTA≥35 dBHL, P<0.01). The testing methods significantly influenced MAA and testing duration (F=24.02, P<0.01; F=75.56, P<0.01) and the 1-up/1-down method was the quickest, averaging only (0.69±0.32) mins. Conclusions: The horizontal plane auditory spatial discrimination abilities in patients with symmetrical SNHL is impaired progressively with increasing hearing loss, notably beyond moderate hearing loss levels. Different psychophysical methods influence both MAA and test duration, the quicker 1-up/1-down method is recommended for assessing MAA in symmetrical SNHL patients.
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Perda Auditiva Neurossensorial , Localização de Som , Humanos , Masculino , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/fisiopatologia , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Adolescente , Limiar AuditivoRESUMO
Objective: To evaluate the long-term outcomes of lower extremity arteriovenous graft (AVG) in hemodialysis patients. Methods: Hemodialysis patients with lower extremity AVG from August 2015 to July 2023 in the Department of Vascular Surgery, Longhua Hospital, Shanghai University of Traditional Chinese Medicine were enrolled. Therapeutic effects and complications of AVG were retrospectively analyzed. Results: A total of 83 cases aged (58.9±13.3) years were enrolled, including 25 males and 58 females. The success rate of the operation was 100% (83/83), and no perioperative complications occurred. The follow-up time [M (Q1, Q3)] was 38.4 (22.6, 55.3) months, with a follow-up rate of 92.8% (77/83). There were 9 cases (11.7%) of puncture site infection, 5 cases (6.5%) of pseudoaneurysm, 2 cases (2.6%) of seroma, 3 cases (3.9%) of lower limb ischemia, 48 cases (62.3%) of stenosis and 24 cases (31.2%) of thrombosis during the follow-up period. The 6-month, 1-year, 2-year, 3-year and 5-year primary patency rates after surgery were 78.9%, 61.2%, 39.0%, 27.0% and 16.3%, respectively, assisted primary patency rates were 93.5%, 82.5%, 74.9%, 68.0% and 53.0%, respectively, and secondary patency rates were 96.1%, 94.7%, 93.1%, 91.3% and 75.3%, respectively. Conclusion: For patients whose vascular resources of upper limbs are exhausted, lower extremity AVG is a safe and effective hemodialysis vascular access.
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Derivação Arteriovenosa Cirúrgica , Extremidade Inferior , Diálise Renal , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Extremidade Inferior/irrigação sanguínea , Estudos Retrospectivos , Idoso , Resultado do Tratamento , Grau de Desobstrução VascularRESUMO
Objective: To investigate the association of urinary cadmium levels with peripheral leukocyte classification counts among middle-aged and older adults aged 40 to 89 years in selected areas of China. Methods: The research was based on the survey of the impact of soil quality of agricultural land on human health in typical areas conducted in 2019-2020. A total of 5 600 middle-aged and older adults aged 40 to 89 years were included by using a multi-stage stratified random sampling method. Baseline characteristics of the subjects were collected and physical examinations were performed. Random midstream urine was collected to measure urinary cadmium and urinary creatinine and fasting venous blood was collected to measure the leukocyte count, neutrophil count, lymphocyte count, monocyte count and eosinophil count. The linear mixed effect model was used to analyse the association of urinary cadmium levels with leukocyte classification counts, and the dose-response relationship between them was analyzed by using the restricted cubic spline (RCS) function. Results: The age of the subjects was (63.17±12.02) years; 2 851 (50.91%) were males; and the M (Q1, Q3) of urinary creatinine-corrected urinary cadmium levels was 2.69 (1.52, 4.69) µg/g·creatinine. After adjusting for confounding factors, the results of linear mixed effects model analysis showed that for each 1-unit increase in urinary creatinine-corrected urinary cadmium level, the percentage change [% (95%CI)] of leukocyte count and lymphocyte count was -1.70% (-2.61%, -0.79%) and -1.57% (-2.86%, -0.26%), respectively. RCS function showed a negative linear relationship between urinary creatinine-corrected urinary cadmium levels and leukocyte counts and lymphocyte counts, respectively (all Pnon-linear>0.05). Conclusion: Urinary cadmium levels are negatively associated with leukocyte count and lymphocyte count among middle-aged and older adults aged 40 to 89 years in selected areas of China.
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Cádmio , Humanos , Cádmio/urina , Pessoa de Meia-Idade , China , Idoso , Masculino , Contagem de Leucócitos , Feminino , Adulto , Idoso de 80 Anos ou mais , Creatinina/urinaRESUMO
OBJECTIVE: To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale, multicenter carrier screening. METHODS: This study was conducted among a total of 33 104 participants (16 610 females) from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods. RESULTS: The overall combined carrier frequency was 55.58% for 197 autosomal genes and 1.84% for 26 X-linked genes in these participants.Among the 16 669 families, 874 at-risk couples (5.24%) were identified.Specifically, 584 couples (3.50%) were at risk for autosomal genes, 306(1.84%) for X-linked genes, and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A, 393 couples), HBA1/HBA2(α-thalassemia, 36 couples), PAH (phenylketonuria, 14 couples), and SMN1(spinal muscular atrophy, 14 couples).The most frequently detected X-linked at-risk genes were G6PD (G6PD deficiency, 236 couples), DMD (Duchenne muscular dystrophy, 23 couples), and FMR1(fragile X syndrome, 17 couples).After excluding GJB2 c.109G>A, the detection rate of at-risk couples was 3.91%(651/16 669), which was lowered to 1.72%(287/16 669) after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95% of at-risk couples, while screening for the top 54 genes further increased the detection rate to over 99%. CONCLUSION: This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing, genetic counseling for specific genes or gene variants can be challenging, and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.
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Triagem de Portadores Genéticos , Feminino , Humanos , Masculino , Talassemia alfa/genética , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , China/epidemiologia , Conexina 26 , Conexinas/genética , População do Leste Asiático/genética , Triagem de Portadores Genéticos/métodos , Testes Genéticos/métodos , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala/métodos , MutaçãoRESUMO
Objective: To explore the relationship between insomnia and osteoporosis. Methods: Mendelian randomization (MR) analysis were used in this study. The single nucleotide polymorphisms (SNPs) related to insomnia from genome-wide association analysis research data were selected as the instrumental variables by using inverse variance weighted (IVW), MR-Egger regression, weighted median method, maximum likelihood, penalized weighted median estimator, and Mendelian randomization robust adjusted profile score (MR-RAPS) to determine the causal relationship between insomnia and osteoporosis. Odds ratio (OR) and 95% confidence interval (CI) values were used to evaluate the association between insomnia and osteoporosis. Cochran's Q-test was used to detect heterogeneity of SNPs, MR-Egger regression was used to test for level pleiotropy, and the leave-one-out method was used to test sensitivity, MR pleiotropy residual sum and outlier (MR-PRESSO) method and radial MR were used to detect erroneous outliers. Results: The screening criteria were set based on the three major assumptions of MR; finally, 31 SNPs were included in the MR analysis. The results of MR causal effect analysis using the IVW method showed that insomnia increased the risk of osteoporosis by about 0.7% (OR=1.007, 95%CI 1.001-1.014, P=0.044); heterogeneity testing showed heterogeneity between SNPs (Q=57.91, P<0.001); and the MR- Egger intercept test did not indicate horizontal pleiotropy in this study (intercept value=3.807×10-5, P=0.888). Leave-one-out method showed that no single SNP had a significant impact on the overall results. No abnormal SNP was detected according to the MR-PRESSO results (P=0.059), and radial MR did not detect any outliers. Conclusion: Mendelian randomization analysis showed that insomnia can increase the risk of osteoporosis.
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Estudo de Associação Genômica Ampla , Análise da Randomização Mendeliana , Osteoporose , Polimorfismo de Nucleotídeo Único , Distúrbios do Início e da Manutenção do Sono , Humanos , Osteoporose/genética , Osteoporose/epidemiologia , Distúrbios do Início e da Manutenção do Sono/genética , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Fatores de RiscoRESUMO
Machine vision image processing technology is extensively employed in the medical realm, particularly in dynamic navigation and robotic systems for oral implantology. It plays a pivotal role in assisting clinicians with precise implant placements, enhancing the predictability of implant restorations. The fundamental principles of machine vision image processing technology utilized in dynamic navigation and robotic systems for oral implantology primarily encompass spatial positioning and registration. However, due to variations in technical principles among different systems, their workflows and technical nuances exhibit distinctive characteristics. Therefore, commencing from the principles of spatial positioning and registration in machine vision image processing technology. This article delves into the current application landscape of machine vision in dynamic navigation and robotics for oral implantology. Its objective is to furnish valuable insights for the clinical implementation of machine vision-assisted implant technology.
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Implantes Dentários , Processamento de Imagem Assistida por Computador , Cirurgia Assistida por Computador , Humanos , Cirurgia Assistida por Computador/métodos , Implantação Dentária/métodos , RobóticaRESUMO
The construction of wound repair discipline system with Chinese characteristics is a process of continuous optimization and improvement. Due to the different conditions and the situations that vary widely from region to region and from hospital to hospital, various forms of wound repair specialty or consortium will exist within a period of time and to a extent plays a key role in promoting the construction of the wound repair discipline system with Chinese characteristics. This article introduced several kinds of construction modes of wound repair specialty or regional alliance of wound repair specialty in recent years. Their successful experience is worth learning and drawing lessons from.
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Medicina , Cicatrização , Hospitais , Aprendizagem , ChinaRESUMO
Objective: To explore high-risk sexual behaviors of HIV/AIDS and related factors in young students in Guangzhou. Methods: A cross-sectional survey was conducted in 5 different types of Guangzhou colleges by convenience sampling with minimum number of classes per grade and 600 samples per school from September to November 2021. The R 4.2.2 software was used to consolidate databases. Simultaneously, a logistic regression model and a decision tree algorithm model, stratifying by whether sexual behaviors had occurred before, were constructed. In each layer, the prediction performance of the two models was evaluated through area under receiver operating characteristic and the confusion matrix, and then the model with high prediction performance was retained. Results: A total of 7 346 students were surveyed. The proportion of the respondents reporting sexual experience were 9.08% (667/7 346), in whom 26.24% (175/667) had risky sexual activity in the past year. The decision tree algorithm model performs well in predicting whether high-risk sexual behaviors have occurred in the past year. When the complexity parameter value is 0.018, and nsplit reaches 4, which means there are 5 leaf nodes in the model, the cross error of the tree will be the smallest. The first best grouping variable in the decision tree was whether to use condoms throughout the first sexual behavior. If condoms were used at their sexual debut, but homosexual practices have occurred in the past year, the probability of risky sexual behavior will increase. If homosexual practices have not occurred in the past year, but the age of sexual debut was below 18 years old while the period of HIV education was after high school, the probability of risk sexual behavior will also increase. Conclusions: AIDS-related risky behaviors of young students still deserved attention. The experience of sexual debut and whether AIDS-related health education has been received before the sexual debut were significant predictors for the occurrence of high-risk sexual behavior. The decision tree algorithm model has particular applicability for predicting and screening potential risk populations.
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Síndrome da Imunodeficiência Adquirida , Infecções por HIV , Humanos , Adolescente , Síndrome da Imunodeficiência Adquirida/epidemiologia , Síndrome da Imunodeficiência Adquirida/prevenção & controle , Estudos Transversais , Comportamento Sexual , Infecções por HIV/epidemiologia , Infecções por HIV/prevenção & controle , Preservativos , Fatores de Risco , Estudantes , Assunção de Riscos , Conhecimentos, Atitudes e Prática em SaúdeRESUMO
1. Feathers are an important product from poultry, and the state of feather growth and development plays an important role in their economic value.2. In total, 120 eggs were selected for immunoblotting and immunolocalisation experiments of ERK and ß-catenin proteins in different developmental stages of goose embryos. The ERK protein was highly expressed in the early stage of goose embryo development, while ß-catenin protein was highly expressed in the middle stage of embryo development.3. The 120 eggs were divided into four treatment groups, including an uninjected group (BLANK), a group injected with 100 µl of cosolvent (CK), a group injected with 100 µl of AZD6244 containing cosolvent in a dose of 5 mg/kg AZD6244 containing cosolvent (AZD5) and a group injected with 100 µl of AZD6244 containing cosolvent in a dose of 15 mg/kg AZD6244 containing cosolvent (AZD15). The eggs were injected on the ninth day of embryonic development (E9). Samples were collected at E21.5 to observe feather width, feather follicle diameter, ERK and Wnt/ß-catenin pathway protein expression.4. The AZD5 and AZD15 doses were within the embryonic safety range compared to the BLANK and CK groups and had no significant effect on the survival rate and weight at the inflection point, but significantly reduced the feather width and feather follicle diameter (p < 0.05). The AZD6244 treatment inhibited ERK protein phosphorylation levels and blocked the Wnt/ß-catenin pathway, which in turn significantly down-regulated the expression levels of FZD4, ß-catenin, TCF4 and LEF1 (p < 0.05), with an inhibitory effect in the AZD15 group being more significant. The immunohistochemical results of ß-catenin and p-ERK were consistent with Western blot results.5. The small molecule inhibitor AZD6244 regulated the growth and development of feather follicles in goose embryos by the ERK and Wnt/ß-catenin pathways.
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Plumas , Gansos , Via de Sinalização Wnt , Animais , Via de Sinalização Wnt/efeitos dos fármacos , Plumas/efeitos dos fármacos , Plumas/química , beta Catenina/metabolismo , beta Catenina/genética , Desenvolvimento Embrionário/efeitos dos fármacos , Óvulo/efeitos dos fármacos , Proteínas Aviárias/metabolismo , Proteínas Aviárias/genética , Benzamidas , FluorocarbonosRESUMO
Objective: To investigate the risk perception for risky behavior of HIV/AIDS infection among young students and to analyze the related influencing factors. Methods: A cross-sectional survey was conducted in 5 different types of Guangzhou colleges from September to November 2021, in which convenience sampling and a minimum number of classes per grade and 600 samples per school were used according to the national unity program. Disordered multi-classification logistic regression was used to construct a risk perception model and analyze influencing factors in different risk perception levels. Results: A total of 7 346 young students were surveyed, and most rated themselves at low risk of HIV/AIDS infections (90.58%, 6 654/7 346). A total of 89.10% (6 545/7 346) of subjects' perception of their HIV/AIDS infection risk was consistent with their risk behavior, while 10.90% (801/7 346) was inconsistent. Among those inconsistent subjects, 19.10% (153/801) showed underestimating their risk , while 80.90% (648/801) seen overestimating their risk. Disordered multi-classification logistic regression analysis showed that, after controlling for other factors, compared with the non-sexual group, respondents whose first sex age under 18 had a higher rate of underestimating their risk of infection (OR=129.39, 95%CI: 73.28-228.48), as well as a higher rate of overestimated their risk of infection (OR=1.76, 95%CI: 1.04-2.99). First sexual intercourse at age 18 or older was a risk factor for underestimating risk (OR=70.56, 95%CI: 42.72-116.53), but was not statistically associated with overestimating risk. Being female, other school type, non-heterosexual orientation, and self-rated HIV-related knowledge as fair or no knowledge were risk factors for overestimating risk but were not statistically associated with underestimating risk. Conclusions: Overall, young students in universities of Guangzhou have a good risk perception of HIV/AIDS infection. Individual factors, education factors and sexual experience will influence students' risk perception of HIV/AIDS infection. Raising the awareness rate of HIV/AIDS knowledge and delaying the age of first sexual intercourse will improve the risk perception ability of young students.
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Síndrome da Imunodeficiência Adquirida , Infecções por HIV , Humanos , Feminino , Adolescente , Masculino , Estudos Transversais , Infecções por HIV/epidemiologia , Comportamento Sexual , Estudantes , Inquéritos e Questionários , Percepção , Conhecimentos, Atitudes e Prática em SaúdeRESUMO
Mitophagy, as an important link in maintaining mitochondrial homeostasis and environmental homeostasis in the liver, can remove damaged mitochondria and provide energy through autophagy and other processes. Additionally, it plays a dual role in the occurrence and development of liver cancer and can affect the therapeutic effect of liver cancer through a variety of signaling pathways. This article reviews the relationship between mitophagy and hepatitis B virus infection, liver cancer occurrence and development, liver cancer stem cells, mitochondrial division and fusion, therapeutic resistance and invasiveness of liver cancer, and other aspects.
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Neoplasias Hepáticas , Mitofagia , Humanos , Autofagia , Neoplasias Hepáticas/metabolismo , MitocôndriasRESUMO
Phased major results with construction of the disciplinary system of wound repair with Chinese characteristics have been achieved in the past 30 years. However, some problems in institutional issues still affect the development of the discipline. In this paper, 10 aspects of the impact of discipline construction are put forward which may offer reference for high-quality construction of the disciplinary system of wound repair with Chinese characteristics.
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Cicatrização , Humanos , ChinaRESUMO
Repairing chronic refractory wounds on the body surface is a complex medical problem involving all stages of wound healing. In recent years, stem cells (SCs) and tissue engineering (TE) have brought hope for repairing chronic refractory wounds. SCs have excellent regenerative and paracrine effects; various TE strategies have the potential to repair chronic refractory wounds on the body surface and also improve the delivery efficiency of SCs. This article reviews the pathological characteristics of chronic refractory wounds, SCs used to repair chronic refractory wounds, and SC-based TE wound repair strategies.
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Engenharia Tecidual , Cicatrização , Resinas Acrílicas , Células-TroncoRESUMO
The regenerative medicine has made great breakthrough in the repair of combat trauma, showing broad prospects, while the method of regenerative medicine applied in the early treatment of combat trauma is not yet clear. The early treatment of combat trauma includes strict control of bleeding, a large amount of blood transfusion, alleviation of acidosis, and correction of hypothermia and improvement of coagulation dysfunction, etc. This paper focuses on the bio-engineered blood, research and development of homeostatic materials, control of inflammation/infection, regulation of immunity, protection of important organs, establishment of military medical model, research and development of biosensors and drugs, and preventive application of stem cell bank in regenerative and tissue engineering in defense medicine to summarize the role of regenerative medicine in the early treatment of combat trauma, hoping to improve the overall treatment level of combat trauma.
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Hemorragia , Medicina Regenerativa , Humanos , Medicina Regenerativa/métodos , Engenharia Tecidual , Coagulação Sanguínea , Células-TroncoRESUMO
OBJECTIVE: To investigate the value of C-peptide-based insulin resistance index in evaluating the correlation between insulin resistance and serum uric acid (Ua) level in subjects undergoing health examination. METHODS: The data of 46 017 subjects undergoing health examination were retrospectively collected from the Second Medical Center of PLA General Hospital from January, 2017 to December, 2021. The subjects were divided into Ua≤420 µmol/L group and Ua>420 µmol/L group for comparison of HOMA insulin resistance index (HOMA2-IR) and HOMA insulin resistance-C peptide (HOMA2 IR-CP). The correlations of HOMA2-IR and HOMA2 IR-CP with Ua level were analyzed using Pearson correlation analysis and linear regression analysis. Hierarchical interaction analysis was conducted to assess the differences in the association between insulin resistance index and Ua level in different subgroups. The ROC curve was used to evaluate the predictive ability of insulin resistance index for an increased Ua level. RESULTS: The levels of HOMA2-IR and HOMA2 IR-CP were significantly lower in Ua≤420 µmol/L group than in Ua>420 µmol/L group. Univariate Pearson correlation analysis showed a weak correlation of HOMA2-IR with Ua (r=0.262, P<0.001) and moderate correlation of HOMA2 IR-CP with Ua (r=0.409, P<0.001). Multivariate linear regression analysis, after adjustment for confounding factors, demonstrated that HOMA2-IR (R2=0.445, P<0.001) and HOMA2 IR-CP (R2=0.461, P<0.001) were both factors affecting Ua level. Hierarchical interaction analysis showed that the association of insulin resistance index with Ua level varied significantly with gender, age, and glucose metabolism (P<0.001). ROC curve showed that the areas under the curve predicted an increased Ua level by HOMA2-IR and HOMA2 IR-CP were 0.662 and 0.722, respectively. CONCLUSIONS: HOMA2 IR-CP is a more accurate indicator for assessing the correlation between insulin resistance and Ua level.
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Resistência à Insulina , Insulina , Humanos , Peptídeo C , Ácido Úrico , Estudos RetrospectivosRESUMO
BACKGROUND: It was demonstrated that external stress, such as in vitro maturation (IVM) and vitrification process can induce significantly reduced development capacity in oocytes. Previous studies indicated that antioxidants play a pivotal part in the acquisition of adaptation in changed conditions. At present, the role of the natural potent antioxidant PCB2 in response to IVM and vitrification during ovine oocyte manipulation has not been explored. OBJECTIVE: To investigate whether PCB2 treatment could improve the developmental potential of ovine oocytes under IVM and vitrification stimuli. MATERIALS AND METHODS: The experiment was divided into two parts. Firstly, the effect of PCB2 on the development of oocytes during IVM was evaluated. Un-supplemented and 5 ug per mL PCB2-supplemented in the IVM solution were considered as control and experimental groups (C + 5 ug per mL PCB2). The polar body extrusion (PBE) rate, mitochondrial membrane potential (MMP), ATP, reactive oxygen species (ROS) levels and early apoptosis of oocytes were measured after IVM. Secondly, we further determine whether PCB2 could improve oocyte quality under vitrification stress. The survival rate, PBE rate and early apoptosis of oocytes were compared between fresh group, vitrified group and 5 ug per mL PCB2-supplemented in the IVM solution after vitrification (V + 5 ug per mL PCB2). RESULTS: Compared to the control group, adding PCB2 significantly increased PBE rate (79.4% vs. 62.8%, P < 0.01) and MMP level (1.9 +/- 0.08 vs. 1.3 +/- 0.04, P < 0.01), and decreased ROS level (47.1 +/- 6.3 vs. 145.3 +/- 8.9, P < 0.01). However, there was no significant difference in ATP content and early apoptosis. Compared to the fresh group, vitrification significantly reduced oocytes viability (43.0% vs. 90.8%, P < 0.01) as well as PBE rate (24.2% vs. 60.6%, P < 0.05). However, 5 ug per mL PCB2-supplemention during maturation had no effect on survival, PBE or early apoptosis in vitrified oocytes. CONCLUSION: PCB2 could effectively antagonise the oxidative stress during IVM and promote oocyte development. DOI: 10.54680/fr23210110412.
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Antioxidantes , Vitrificação , Ovinos , Animais , Antioxidantes/farmacologia , Criopreservação , Espécies Reativas de Oxigênio , Oócitos/fisiologia , Carneiro Doméstico , Trifosfato de Adenosina/farmacologia , Técnicas de Maturação in Vitro de OócitosRESUMO
Objective: To analyze the clinical and genetic features of patients with mitochondrial pyruvate carrier deficiency (MPYCD). Methods: This was a case series research. The clinical data, genetic characteristics, and glutamine treatment efficacy of 3 patients diagnosed with MPYCD at the Department of Neurology, Beijing Children's Hospital, Capital Medical University and Department of Pediatrics, Guizhou Provincial People's Hospital, from August 2019 to June 2023 were retrospectively collected. A literature search with "MPC1 gene" "MPC2 gene and" "mitochondrial pyruvate carrier deficiency" as keywords was conducted at the Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure (CNKI) and PubMed (up to June 2023). Clinical and genetic characteristics of patients with MPYCD were summarized. Results: Case 1 was a 3 years and 11 months old boy, while case 2 was a 4 years and 10 months old boy and case 3 was an 8 years and 9 months old girl. Case 2 and case 3 were siblings from one consanguineous family. All 3 patients presented with general developmental delay, growth failure and elevated serum lactate. Cranial magnetic resonance imaging (MRI) showed subtle bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus in case 1, but normal in case 2 and 3. Trio-WES revealed case 1 harboring compound heterozygous missense variants c.208G>A (p.Ala70Thr) and c.290G>A (p.Arg97Gln) in MPC1 gene, while case 2 and 3 revealed a homozygous variant c.290G>A (p.Arg97Gln) in the same gene. All 3 cases were diagnosecl as MPYCD. Clinical symptoms including motor ability, cognition and activity endurance were improved in these 3 patients after taking glutamine for 2 years. A total of 5 articles published in English were reviewed, and no Chinese literature was found. Including these 3 cases, 15 cases were enrolled for analysis. Eleven patients carried MPC1 gene variants and 4 cases carried MPC2 gene variants. Except for 3 cases died during prenatal period, 9 of 12 enrolled born cases were onset before 6 months old. The most common clinical symptoms were mental and motor general developmental delay, microcephaly, growth failure and hypotonia. All patients had elevated blood lactate and pyruvate, but the ratio of lactate/pyruvate was normal. Seven patients performed cranial MRI, 3 exhibited non-specific changes, 2 showed bilateral symmetrical T2 signal hyperintensity in basal ganglia and thalamus, and 3 were normal. A total of 5 MPC1 gene missense variants and 2 MPC2 gene variants were identified in 15 cases. Conclusions: Onset age of patients with MPYCD is usually within 6 months. The main clinical characteristics are developmental delay, microcephaly and growth failure, accompanied by increased serum lactate and pyruvate. Glutamine supplement could lead to clinical improvements.
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Microcefalia , Transportadores de Ácidos Monocarboxílicos , Criança , Feminino , Humanos , Masculino , Glutamina , Lactatos , Piruvatos , Estudos Retrospectivos , Pré-EscolarRESUMO
Objective: To establish an intelligent registration algorithm under the framework of original-mirror alignment algorithm to construct three-dimensional(3D) facial midsagittal plane automatically. Dynamic Graph Registration Network (DGRNet) was established to realize the intelligent registration, in order to provide a reference for clinical digital design and analysis. Methods: Two hundred clinical patients without significant facial deformities were collected from October 2020 to October 2022 at Peking University School and Hospital of Stomatology. The DGRNet consists of constructing the feature vectors of key points in point original and mirror point clouds (X, Y), obtaining the correspondence of key points, and calculating the rotation and translation by singular value decomposition. Original and mirror point clouds were registrated and united. The principal component analysis (PCA) algorithm was used to obtain the DGRNet alignment midsagittal plane. The model was evaluated based on the coefficient of determination (R2) index for the translation and rotation matrix of test set. The angle error was evaluated on the 3D facial midsagittal plane constructed by the DGRNet alignment midsagittal plane and the iterative closet point(ICP) alignment midsagittal plane for 50 cases of clinical facial data. Results: The average angle error of the DGRNet alignment midsagittal plane and ICP alignment midsagittal plane was 1.05°±0.56°, and the minimum angle error was only 0.13°. The successful detection rate was 78%(39/50) within 1.50° and 90% (45/50)within 2.00°. Conclusions: This study proposes a new solution for the construction of 3D facial midsagittal plane based on the DGRNet alignment method with intelligent registration, which can improve the efficiency and effectiveness of treatment to some extent.
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Objective: To obtain the diversity and abundance of fast-growing bacteria in the surface water of the northeast coast of Hainan Island in China, different cultivation methods were employed. This study also aims to provide a reference for isolating bacterial samples from seawater sources and preventing marine-derived pathogens. Methods: Based on the principles of taxonomic design, surface seawater samples were collected from six locations along the northeast coast of Hainan Island in China in March, June, October, and December 2021. Then, bacterial enrichment was performed based on traditional cultivation methods for Salmonella, Vibrio, Burkholderia pseudomallei, Actinomycetes, and general marine bacteria. After that, bacterial species identification was conducted by 16S rDNA amplicon sequencing and metagenomic sequencing. Results: A total of 1 151 fast-growing cultivable bacteria belonging to 66 genera and 213 species were identified using five different culture protocols. In different cultivation protocols, Bacillus and Klebsiella demonstrated extensive discriminatory advantages and ranked among the top genera in terms of abundance. Protocol 1 had Escherichia, Klebsiella, and Citrobacter as dominant genera. Pathogenic bacteria detected by protocol 1 included Klebsiella pneumoniae and Escherichia coli, with 37 and 29 strains respectively, while Salmonella enterica was uniquely detected with seven isolates. Proteus, Enterococcus, and Providencia were the dominant genera in protocol 2, and Proteus mirabilis was the most abundant pathogenic bacteria detected with 66 isolates. Vibrio cholerae was uniquely detected with six isolates at a higher abundance. Klebsiella, Escherichia, and Acinetobacter were the dominant genera in protocol 3, and Klebsiella pneumoniae was the most abundant pathogenic bacteria detected with 53 isolates, while Acinetobacter nosocomialis was uniquely detected with seven isolates. Vibrio and Pseudoalteromonas were the dominant genera in protocol 4, and they showed advantages in isolating and cultivating Marine-derived Vibrio. Exiguobacterium, Staphylococcus, and Bacillus were the dominant genera in protocol 5. Bacillus cereus and Lactococcus lactis were the most abundant pathogenic bacteria detected with 20 and 15 isolates, respectively, while Lactococcus lactis was uniquely detected at higher abundance. Metagenomic sequencing showed that Klebsiella pneumoniae was significantly dominant with a gene abundance of 51.11%, followed by Alcanivorax sp. at 12.57%. Conclusion: The surface water of the northeast coast of Hainan Island in China exhibits a rich diversity of bacteria, with Klebsiella pneumoniae being highly abundant in the studied area. Different cultivation methods demonstrate distinct selective advantages in culturing bacterial genera and pathogens. Therefore, it is necessary to optimize cultivation conditions for specific marine bacteria.
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Bactérias , Água , Humanos , Bactérias/genética , Água do Mar/microbiologia , Escherichia coli , Enterococcus , Klebsiella pneumoniae , ChinaRESUMO
OBJECTIVES: Although shift work has been reported as having a link to dementia, evidence remains inconsistent, and a comprehensive dose-response meta-analysis of the association is still lacking. We therefore conducted this meta-analysis to explore the association between shift work and the risk of dementia. STUDY DESIGN: Systematic review and dose-response meta-analysis. METHODS: PubMed, Embase, and Web of Science databases were systematically searched. Fixed or random-effects models were used to estimate the summary relative risks (RRs) and 95% confidence intervals (95% CIs). Generalized least squares regression was used to estimate dose-response associations, and restricted cubic splines were used to examine possible linear or non-linear associations. RESULTS: Five articles (10 studies) with 72,999 participants and 23,067 cases were eventually included in the meta-analysis. The summary RRs and 95% CIs of dementia risk with shift work and night shift work versus daytime work were 1.13 (95% CI: 1.05-1.21, I2 = 46.70%) and 1.13 (95% CI: 1.03-1.24, I2 = 9.20%), respectively. The risk of dementia increased by 1% (RR = 1.01, 95% CI: 1.01-1.02, I2 = 41.3%) with each 1-year increase in the duration of shift work. We found a non-linear dose-response association between the duration of shift work and the risk of dementia (Pnon-linearity = 0.006). Though the shape of the curve was steeper with the duration of shift work <7 years, the increase was more gradual after 7 years. CONCLUSION: Our findings suggest that shift work may be a risk factor for future dementia and that controlling the length of shift work is a feasible measure that may contribute to prevent dementia.