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1.
Journal of Clinical Hepatology ; (12): 700-705, 2024.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1016512

RESUMEN

ObjectiveTo investigate the association of the polymorphisms of the acetyl-CoA acetyltransferase 1 (ACAT1) gene and the melatonin receptor 1B (MTNR1B) gene with the susceptibility to nonalcoholic fatty liver disease (NAFLD). MethodsA total of 164 healthy controls and 228 NAFLD patients were enrolled in this study. PCR and sequencing methods were used to determine the genotypes of the polymorphisms of the ACAT1 gene at the rs1044925 and rs1157651 loci and the MTNR1B gene at the rs10830963 locus, and fasting venous blood samples were collected for biochemical analysis. The t-test was used for comparison of normally distributed continuous data between groups, and the non-parametric Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups; the chi-square test was used for comparison of categorical data between groups. ResultsThere were no significant differences between the NAFLD group and the healthy control group in the genotype distribution of the ACAT1 gene at the rs1044925 and rs1157651 loci and the MTNR1B gene at the rs10830963 locus (all P>0.05). The carriers of AA genotype at the rs1044925 locus of the ACAT1 gene had a significantly higher level of low-density lipoprotein than the carriers of C allele (Z=-2.08, P=0.04), and the carriers of G allele at the rs10830963 locus of the MTNR1B gene had a significantly higher level of fasting blood glucose than the carriers of CC genotype (Z=-3.01, P<0.01). ConclusionThe polymorphisms of the ACAT1 gene at the rs1044925 and rs1157651 loci and the MTNR1B gene at the rs10830963 locus were not associated with the susceptibility to NAFLD. The rs1044925 locus of the ACAT1 gene and the rs10830963 locus of the MTNR1B gene are associated with the levels of low-density lipoprotein and fasting blood glucose, respectively.

2.
Yonsei Medical Journal ; : 363-370, 2024.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-1045633

RESUMEN

Purpose@#We investigated the association between social support, metabolic syndrome, and incident cardio-cerebrovascular disease (CCVD) in rural Koreans aged ≥50 years. @*Materials and Methods@#We conducted a prospective study using the Korean Genome and Epidemiology Study on Atherosclerosis Risk of Rural Areas in the Korean General Population (KoGES-ARIRANG) dataset. From the baseline of 5169 adults, 1682 participants were finally included according to the exclusion criteria. For outcomes, myocardial infarction, angina, and stroke were included. For independent variables, the social support score and metabolic syndrome were used. Descriptive statistics and multivariate logistic regression were performed to investigate the association among the variables. Paired t-test was conducted to analyze the longitudinal variation of social support scores. @*Results@#During the 6.37 years of median follow-up, 137 participants developed CCVD. The adjusted odds ratio (aOR) of metabolic syndrome with persistently high social support was 2.175 [95% confidence interval (CI): 1.479–3.119]. The aOR of metabolic syndrome with persistently low social support was 2.494 (95%CI: 1.141–5.452). The longitudinal variation of the social support score of persistently high social support group was increased significantly by 4.26±26.32. The score of the persistently low social support group was decreased by 1.34±16.87 with no statistical significance. @*Conclusion@#The presence of metabolic syndrome increases the likelihood of developing onset CCVD. Within the metabolic syndrome positive group, when social support was persistently low, the cohort developed more cardio-cerebrovascular disease compared to the persistently higher social support group. The social support score of the persistently low social support group could be improved through proper intervention. To prevent CCVD, metabolic syndrome components and low social support should be improved in the study participants.

3.
Chinese Journal of Biotechnology ; (12): 280-291, 2024.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1008095

RESUMEN

In this study, the chloroplast genome of Camellia insularis Orel & Curry was sequenced using high-throughput sequencing technology. The results showed that the chloroplast genome of C. insularis was 156 882 bp in length with a typical tetrad structure, encoding 132 genes, including 88 protein-coding genes, 36 tRNA genes, and 8 rRNA genes. Codon preference analysis revealed that the highest number of codons coded for leucine, with a high A/U preference in the third codon position. Additionally, 67 simple sequence repeats (SSR) loci were identified, with a preference for A and T bases. The inverted repeat (IR) boundary regions of the chloroplast genome of C. insularis were relatively conserved, except for a few variable regions. Phylogenetic analysis indicated that C. insularis was most closely related to C. fascicularis. Yellow camellia is a valuable material for genetic engineering breeding. This study provides fundamental genetic information on chloroplast engineering and offers valuable resources for conducting in-depth research on the evolution, species identification, and genomic breeding of yellow Camellia.


Asunto(s)
Genoma del Cloroplasto/genética , Filogenia , Fitomejoramiento , Camellia/genética , Cloroplastos/genética
4.
Chinese Journal of Urology ; (12): 53-54, 2024.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1028395

RESUMEN

When partial nephrectomy is performed by posterior abdominal approach, the surgical field is poorly exposed, resulting in increased surgical difficulty and risk of injury.In this study, 28 patients with T 1a stage kidney tumors underwent retroperitoneal laparoscopic partial nephrectomy. Intraoperatively, exposure of the surgical field was achieved using the percutaneous puncture of the renal fascia suspension technique. There were no dissatisfactory exposures due to peritoneal damage during the surgery, no additional tubes were inserted, and no conversions to open surgery were needed. The operation time was (76.5±20.3) minutes, blood loss was (92.1±18.7) ml, renal artery clamping time was (19.5±4.3) minutes. Postoperatively, there were no complications such as bleeding, infection, or hematuria.

5.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1024376

RESUMEN

Objective To investigate the efficacies of proximal femoral nail anti-rotation(PFNA)internal fixation in traction bed supine position and non-traction bed lateral position in the treatment of elderly unstable femoral intertrochanteric fractures.Methods The clinical data of patients with unstable femoral intertrochanteric fractures treated with PFNA internal fixation in our hospital were retrospec-tively analyzed,41 patients received treatment in traction bed supine position were included in the supine position group,and 55 patients treated received treatment in non-traction bed lateral position were included in the lateral position group.The perioperative related indicators,surgical reduction,hip Harris score,and incidence of complications in the two groups were analyzed.Results The operation time and incision length of patients in the lateral position group were shorter than those in the supine position group,and the intraoperative blood loss and fluoroscopy times were less than those in the supine position group,with statistically significant differences(P<0.05).There was no significant difference in the anesthesia mode,blood transfusion or hospital stay of patients between the two groups(P>0.05).There was no significant difference in the incidence of postoperative complications of patients between the two groups(P>0.05).There was no significant difference in neck-shaft angle,tip-apex distance or hip Harris score of patients between the two groups(P>0.05).Conclusion PFNA internal fixation in traction bed supine position and non-traction bed lateral position have the same effect in the treatment of elderly unstable femoral intertrochanteric fractures,while the non-traction bed lateral position for treatment has more advantages in shortening operation time,decreasing intraoperative blood loss,and reducing radiation exposure.

6.
Orthop Surg ; 15(10): 2689-2700, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37620939

RESUMEN

OBJECTIVE: The alteration in the mechanical environment of the necrotic area is the primary cause of the collapse observed in osteonecrosis of the femoral head (ONFH). This study aims to evaluate the biomechanical implications of the China-Japan Friendship Hospital (CJFH) classification system and hip flexion angles on the necrotic area in ONFH using finite element analysis (FEA). The goal is to provide valuable guidance for hip preservation treatments and serve as a reference for clinical diagnosis and therapeutic interventions. METHODS: Hip tomography CT scan data from a healthy volunteer was used to create a 3D model of the left hip. The model was preprocessed and imported into Solidworks 2018, based on the CJFH classification. Material parameters and boundary conditions were applied to each fractal model in ANSYS 21.0. Von Mises stresses were calculated, and maximum deformation values were obtained to evaluate the biomechanical effects of the load on the necrotic area and post-necrotic femur, as well as assess each fractal model's collapse risk. RESULTS: (1) At the same hip flexion angle, maximum deformation followed this order: M Type < C Type < L Type. The L3 type necrotic area experienced the most significant deformation at 0, 60, and 110° angles (1.121, 1.7913, and 1.8239 mm respectively). (2) Under the same CJFH classification, maximum deformation values increased with hip flexion angle (0 < 60 < 110°), suggesting a higher risk of collapse at larger angles. (3) Von Mises stress results showed that the maximum stress was not located in the necrotic area but near the inner and outer edge of the femoral neck, indicating decreased stiffness and strength of the subchondral bone after osteonecrosis. CONCLUSION: The study found that femoral head collapse risk was higher when the necrotic area was located in the lateral column under the same stress load and flexion angle. Mechanical properties of the necrotic area changed, resulting in decreased bone strength and stiffness. Large-angle hip flexion is more likely to cause excessive deformation of the necrotic area; thus, ONFH patients should reduce or avoid large-angle hip flexion during weight-bearing training in rehabilitation activities.


Asunto(s)
Necrosis de la Cabeza Femoral , Cabeza Femoral , Humanos , Necrosis de la Cabeza Femoral/diagnóstico por imagen , Análisis de Elementos Finitos , Amigos , Japón , China
7.
BMC Public Health ; 23(1): 1327, 2023 07 11.
Artículo en Inglés | MEDLINE | ID: mdl-37434151

RESUMEN

BACKGROUD: Plasma lipids and alcohol intake frequency have been reported to be associated with the risk of osteoarthritis (OA). However, it remains inconclusive whether plasma lipids and alcohol intake frequency play a role in the development of OA. METHODS: The study employed a comprehensive genome-wide association database to identify independent genetic loci strongly linked to plasma lipids and alcohol intake frequency, which were used as instrumental variables. The causal association between plasma lipids, alcohol intake frequency, and the risk of OA was then analyzed using two-sample Mendelian randomization methods such as inverse variance weighted (IVW), MR-Egger regression, and weighted median estimator (WME), with odds ratios (ORs) as the evaluation criteria. RESULTS: A total of 392 SNPs were included as instrumental variables in this study, including 32 for total cholesterol (TC), 39 for triglycerides (TG), 170 for high-density lipoproteins (HDL), 60 for low-density lipoproteins (LDL), and 91 for alcohol intake frequency. Using the above two-sample Mendelian Randomization method to derive the causal association between exposure and outcome, with the IVW method as the primary analysis method and other MR analysis methods complementing IVW. The results of this study showed that four exposure factors were causally associated with the risk of OA. TC obtained a statistically significant result for IVW (OR = 1.207, 95% CI: 1.018-1.431, P = 0.031); TG obtained a statistically significant result for Simple mode (OR = 1.855, 95% CI: 1.107-3.109, P = 0.024); LDL obtained three statistically significant results for IVW, WME and Weighted mode (IVW: OR = 1.363, 95% CI: 1.043-1.781, P = 0.023; WME: OR = 1.583, 95% CI: 1.088-2.303, P = 0.016; Weighted mode: OR = 1.521, 95% CI: 1.062-2.178, P = 0.026). Three statistically significant results were obtained for alcohol intake frequency with IVW, WME and Weighted mode (IVW: OR = 1.326, 95% CI: 1.047-1.678, P = 0.019; WME: OR = 1.477, 95% CI: 1.059-2.061, P = 0.022; Weighted mode: OR = 1.641, 95% CI: 1.060-2.541, P = 0.029). TC, TG, LDL, and alcohol intake frequency were all considered as risk factors for OA. The Cochran Q test for the IVW and MR-Egger methods indicated intergenic heterogeneity in the SNPs contained in TG, HDL, LDL, and alcohol intake frequency, and the test for pleiotropy indicated a weak likelihood of pleiotropy in all causal analyses. CONCLUSIONS: The results of two-sample Mendelian randomization analysis showed that TC, TG, LDL, and alcohol intake frequency were risk factors for OA, and the risk of OA increased with their rise.


Asunto(s)
Estudio de Asociación del Genoma Completo , Osteoartritis , Humanos , Análisis de la Aleatorización Mendeliana , Consumo de Bebidas Alcohólicas/efectos adversos , Consumo de Bebidas Alcohólicas/epidemiología , Consumo de Bebidas Alcohólicas/genética , Factores de Riesgo , Osteoartritis/epidemiología , Osteoartritis/genética , Triglicéridos , Lipoproteínas HDL
8.
Chinese Pharmacological Bulletin ; (12): 357-366, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1013864

RESUMEN

Aim To explore the mechanism of process¬ing and increasing efficiency of Arisaematis rhizomz preparatum. Methods UPLC-Q-TOF-MS/MS tech¬nology was used to detect the chemical components be¬fore and after processing of Arisaematis rhizomz prepara¬tum, and its mechanism of action was analysed in the treatment of 44 asthma and phlegm " by using network pharmacology. A rat model of allergic asthma was es- tablished to compare the efficacy of Arisaematis rliizoma before and after processing. Results A total of 27 chemical components were identified, among which cur- cumin ,6-gingerol and other components increased after processing. Combined with the database prediction, the action mechanism of the 36 chemical components in the treatment of 44 asthma and phlegm" diseases was dis¬cussed and predicted through network pharmacology. The results of animal experiments showed that the effect of processed Arisaematis rhizoma on allergic asth¬ma was better than that of Arisaematis rhizoma, but there was no significant difference. Conclusions The addition of curcumin, 6-gingerol, camphor, demethyl- curcumin and other components after the processed Ari¬saematis rhizomz preparatum may be the reason for the synergistic effect of Arisaematis rhizomz preparatum in the treatment of allergic asthma.

9.
International Eye Science ; (12): 1126-1129, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-976481

RESUMEN

Keratopathy-associated cataract, that is, on the basis of corneal disease, and later the development of lens opacity, seriously damage visual quality. In order to avoid corneal transplantation for some patients, partial visual quality can be restored. A comprehensive and accurate evaluation of the effect of corneal opacity on visual function is of great improtance for determining cataract surgery alone. Due to the opacity of the cornea, the operation is very difficult and challenging. Therefore, it is of clinical value to develop and use new assistive technologies, including capsule staining, endoillumination, pupil dialation technology, femtosecond laser assisted technology, etc., avoiding problems such as limited visibility and decreased light flow caused by corneal opacity and facilitating cataract surgery. This article reviews progress of assistive technologies for keratopathy-associated cataract, hoping to guide clinical application.

10.
International Eye Science ; (12): 1139-1143, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-976484

RESUMEN

Microphthalmos-anophthalmos-coloboma(MAC)is structurally and clinically correlated congenital ocular malformation. Although MAC is relatively rare, they still become an important cause of blindness in children. At present, the etiology of MAC is not clear; a variety of genetic or environmental factors may cause MAC. Because of its special anatomical structure, MAC has complex clinical manifestations and multiple complications. The complications including cataract, angle-closure glaucoma, uveal effusion, retinal detachment, orbital cyst, which are often accompanied with increased risks for surgery and poor prognosis. By summarizing the clinical features, the common types of ocular complications, and the progress of the treatment, this article will enhance clinicians' cognition of MAC and guide clinicians to formulate personalized and safe treatment plans for patients.

11.
International Eye Science ; (12): 2100-2103, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-998498

RESUMEN

AIM: To compare the differences and agreement of anterior segment biometric parameters of myopic patients measured by domestic Scansys and the imported Sirius based on the principle of Scheimpflug imaging technique.METHODS: In this case series study, 103 cases(103 eyes)that underwent pre-refractive surgery(including small incision lenticule extraction, femtosecond laser-assisted in situ keratomileusis, transepithelial photorefractive keratectomy and implantable contact lens implantation)at Aier Excellent Eye Hospital from May 2022 to October 2022 were recruited. Preoperative keratometry(Km), central corneal thickness(CCT), anterior chamber depth(ACDEndo.), anterior chamber angle(ACA), anterior chamber volume(ACV), white to white(WTW)of patients were recorded.RESULTS: The results of Km, CCT, ACA, and WTW measured by Scansys and Sirius were 42.88(41.54, 44.60)and 42.98(41.56, 44.52)D,(541.52±29.08)and(549.55±29.62)μm, 42.70°±2.67° and 46.63°±5.13°, 12.10±0.60 and 11.98±0.47 mm, respectively, showing the difference was statistically significant(all P&#x003C;0.01). The ACV measured by Scansys and Sirius was 194.26±31.06 and 191.47±25.65 mm3, and ACDEndo. was 3.40(3.17, 3.57)and 3.43(3.19, 3.56)mm, with no statistically significant difference(all P&#x003E;0.05). The range of Km, CCT, ACA, ACDEndo., ACV and WTW values measured by the two instruments was small, with an average difference close to zero, and the points percentage of 95% limits of agreement(LoA)was &#x003C;5%, which is of good consistency.CONCLUSIONS: Scansys and Sirius have small differences and good agreement in the parameters, which can be replaced by each other in clinical practice. Scansys could theoretically be used to extrapolate the implantable contact lens model or could be a new option for anterior segment parameter measurements.

12.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-994200

RESUMEN

Objective:To evaluate the role of G-rich RNA sequence binding factor 1 (GRSF1) in cerebral ischemia-reperfusion (I/R) injury in mice and the relationship with ferroptosis.Methods:Twenty-four clean-grade male C57BL/6 mice, aged 8-10 weeks, weighing 20-25 g, were divided into 4 groups ( n=6 each) using a random number table method: sham operation group (Sham group), cerebral I/R group (IR group), cerebral I/R+ GRSF1 overexpression group (IR+ LV-GRSF1 group), and cerebral I/R+ GRSF1 overexpression+ glutathione peroxidase 4 (GPX4) inhibitor group (IR+ LV-GRSF1+ RSL3 group). The model of middle cerebral artery occlusion was developed by thread-occlusion method in anesthetized animals. In IR+ LV-GRSF1 group, GRSF1-overexpressed lentivirus 2 μl was injected into the lateral ventricle at 7 days before the development of the model. GPX4 inhibitor RSL3 5 mg/kg was intraperitoneally injected for 2 consecutive days before the development of the model in IR+ LV-GRSF1+ RSL3 group. After 24 h of reperfusion, the percentage of cerebral infarction volume was determined by TTC assay, the survival neurons in ischemic area were detected by Nissl staining, and brain tissues in ischemic area were obtained for determination of the expression of p16, p21(markers of senescence) and tumor necrosis factor-alpha (TNF-α, senescence-associated secretory phenotype) mRNA (by quantitative real-time polymerase chain reaction), contents of malondialdehyde (MDA), superoxide dismutase(SOD) and glutathione (GSH) (by enzyme-linked immunosorbent assay) and expression of GRSF1, GPX4, Acyl-CoA synthetase long-chain family member 4 (ACSL4) and ferritin (by Western blot). Results:Compared with Sham group, the percentage of cerebral infarction volume was significantly increased, the count of viable neurons was decreased, the expression of p16, p21 and TNF-α mRNA in ischemic brain tissues was up-regulated, SOD and GSH contents were decreased, the MDA content was increased, the expression of GRSF1 and GPX4 was down-regulated, and the expression of ACSL4 and ferritin was up-regulated in IR group ( P<0.05). Compared with IR group, the percentage of cerebral infarction volume was significantly decreased, the count of viable neurons was increased, the expression of p16, p21 and TNF-α mRNA in ischemic brain tissues was down-regulated, SOD and GSH contents were increased, the MDA content was decreased, the expression of GRSF1 and GPX4 was up-regulated, and the expression of ACSL4 and ferritin was down-regulated in IR+ LV-GRSF1 group ( P<0.05). Compared with IR+ LV-GRSF1 group, the percentage of cerebral infarction volume was significantly increased, the count of viable neurons was decreased, the expression of p16, p21 and TNF-α mRNA in ischemic brain tissues was up-regulated, SOD and GSH contents were decreased, the MDA content was increased, the expression of GRSF1 and GPX4 was down-regulated, and the expression of ACSL4 and ferritin was up-regulated in IR+ LV-GRSF1+ RSL3 group ( P<0.05). Conclusions:GRSF1 is involved in the endogenous protective mechanism against cerebral I/R injury by up-regulating GPX4 expression, attenuating oxidative stress, and thus inhibiting ferroptosis in mice.

13.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-995856

RESUMEN

Objective:The study takes the Youth Research Project of National Natural Science Foundation of China (NSFC) as an example, analyzes the development and management optimization strategy of such research project in a children′s hospital, to provide reference for the training of pediatric young talents.Methods:Personnel interview and questionnaire survey were adopted to analyze the common characteristics of project application and approval, trend of change, demand and bottleneck challenges of the NSFC Youth Research Project from 2016 to 2022.Results:The total number of approved project were increasing while the rate of the bids fluctuated, and the distribution of department, gender and age are not balanced, full-time scientific research personnel, male, young age and other factors have the advantages of being approved. Five influential factors, including scientific research accomplishment, supporting conditions, research foundation, methods & skills, and scientific research atmosphere and environment, were identified as necessary components of getting funded. The survey also founded that two thirds of the needs run through the whole application process that from the topic selection, nurtured seed-funding, team-building and proposal development.Conclusions:This study puts forward a management plan for youth scientific research projects in children′s hospital from three aspects that including hospital, department and individual. The management department should strengthen the transformation from " full application" to " effective application" , at the same time, more attention should be paid to the selection, training and resource allocation to further optimize the training strategy of youth talents.

14.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-995858

RESUMEN

Objective:This study aims to explore the satisfaction and influencing factors of scientific research incentive mechanisms for young medical staff in a children′s hospital in Beijing, and to provide references for the management department to develop relevant incentive strategies.Methods:A satisfaction questionnaire survey of scientific research incentive mechanisms was carried out during April and May, 2022. Collected data were analyzed by rank sum test and ordered logistic regression.Results:The level of overall satisfaction of 339 young medical staffs was 81.42%. The satisfaction rate of incentive factors was 80.50% and hygiene factors was 77.51%.According to the findings, there were significant differences in educational backgrounds, professional titles and job types, hygiene factors, and incentive factors ( P<0.05). The contributing factors of the job satisfaction were professional title, hygiene factors and incentive factors. Conclusions:The overall satisfaction with the incentive work of the young research staff surveyed was relatively at high-level. It is necessary to improve tailed hygiene factors to meet the characteristics young medical staff, such as setting up full-time scientific research working hours, exploring the establishment of diversified of scientific research sharing mechanisms to increase the utilization of the scientific research platform. It is important to enhance incentive factors to establish a long-term incentive mechanism for young personnel, such as setting up interdisciplinary research projects, exploring the establishment of a recommendation mechanism for outstanding young talents, in order to provide them with more opportunities for further intensive training.

15.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-989336

RESUMEN

Periodontitis is a chronic infectious disease leading to periodontal connective tissue destruction and alveolar bone resorption, which is widely prevalent and seriously endangers the oral and systemic health of a wide range of patients. The host immune inflammatory response plays a major role in the tissue destruction of periodontitis. Polymorphonuclear neutrophils (PMNs), as one of the important immune cell components in periodontal tissues, can trigger the host immune inflammatory response through the release of pro-inflammatory factors, which in turn leads to periodontitis. DNA methylation can influence the function of immune cells by regulating gene expression. Bioinformatics technology can provide new ideas for the treatment of periodontitis by analyzing the gene expression profiles and DNA methylation data of periodontal tissues from public databases of periodontitis patients and healthy populations, uncovering key DNA methylation genes of PMNs, and elucidating the influence of these genes on the pathological progression of periodontitis.

16.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-985938

RESUMEN

Objective: Clinical manifestations, imaging findings, pathologic features, and genetic mutations of Chinese adult patients with cerebrotendinous xanthomatosis (CTX) were analyzed in order to achieve a greater understanding of CTX that can improve early detection, diagnosis, and treatment. Methods: Clinical data including medical history, neurologic and auxiliary examinations, imaging findings, and genetic profile were collected for an adult patient with CTX admitted to the Sixth Medical Center of Chinese People's Liberation Army General Hospital in August 2020. Additionally, a systematic review of genetically diagnosed Chinese adult CTX cases reported in major databases in China and other countries was performed and age of onset, first symptoms, common signs and symptoms, pathologic findings, imaging changes, and gene mutations were analyzed. Results: The proband was a 39-year-old female with extensive, early-onset nervous system manifestations including cognitive dysfunction and ataxia. Systemic lesions included juvenile cataract and a tendon mass. Cranial magnetic resonance imaging revealed cerebral atrophy, symmetric white matter changes predominantly in the pyramidal tract, and lesions in the cerebellar dentate nucleus. A novel homozygous mutation in the sterol-27-hydroxylase (CYP27A1) gene (c.1477-2A>C) was identified. There were no family members with similar clinical presentation although some were carriers of the c.1477-2A>C mutation. The patient showed a good response to deoxycholic acid treatment. Totally there were 56 cases of adult CTX patients in China, mostly in East China (31/56, 55.4%), at a male-to-female ratio of 1.8 to 1. Multiple organs and tissues including nervous system, tendon, lens, lung, and skeletal muscle were affected in these cases. The most common neurologic manifestations were cognitive dysfunction (44/52, 84.6%) and ataxia (44/51, 86.3%). The cases were characterized by early onset, chronic progressive damage of multiple systems, long disease course, and delayed diagnosis, making the disease difficult to manage clinically and resulting in poor prognosis. The 2 most common genetic mutations in Chinese adult CTX patients were c.1263+1G>A and c.379C>T. Exon 2 of the CYP27A1 gene was identified as a mutation hot spot. Conclusions: Chinese adult patients with CTX have complex clinical characteristics, a long diagnostic cycle, and various CYP27A1 gene mutations. Early diagnosis and intervention can improve the prognosis of these patients.


Asunto(s)
Humanos , Masculino , Adulto , Femenino , Xantomatosis Cerebrotendinosa/patología , Linaje , Colestanotriol 26-Monooxigenasa/genética , Mutación , Ataxia
17.
Asian Journal of Andrology ; (6): 57-66, 2023.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-1009805

RESUMEN

The major vascular complications associated with diabetes make the management of diabetic mellitus erectile dysfunction (DMED) a challenging endeavor. Notable factors contributing to DMED include oxidative stress, nitric oxide (NO)/cyclic guanosine monophosphate (cGMP) pathway activation, and apoptosis, while nitro-oleic acid (NO2-OA) has been shown to be beneficial in treating these aspects of this condition. We, herein, investigated the effects and possible mechanisms of NO2-OA on erectile function as assessed in a streptozotocin-induced rat model of diabetes. Our results revealed that the erectile function of DMED rats was significantly impaired compared with that of the control group. However, in response to 4 weeks of NO2-OA treatment, there was an improvement in erectile function. The expression of oxidative stress-related indicators was significantly increased and the NO/cGMP pathway was impaired in the DMED group. The expression of proapoptotic factors was increased, while that of antiapoptotic factors was decreased in the DMED group. Moreover, the cell morphology in the cavernous tissue of the DMED group also changed adversely. NO2-OA treatment significantly reversed all these changes observed in the DMED group. In conclusion, NO2-OA treatment partially improved erectile function in DMED rats through mechanisms that included inhibition of oxidative stress, activation of the NO/cGMP pathway, and a reduction in apoptosis.

18.
Chinese Journal of Burns ; (6): 53-58, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-971149

RESUMEN

Objective: To explore the clinical effects of fractional carbon dioxide laser combined with minimally invasive scar release in the treatment of post-acne atrophic scars. Methods: A retrospectively observational study was conducted. From January to June 2021, 60 patients with grade 3 and 4 post-acne atrophic scars who met the inclusion criteria were admitted to the First Affiliated Hospital of Henan University of Traditional Chinese Medicine. According to the adopted treatment methods, 30 patients treated with fractional carbon dioxide laser combined with minimally invasive scar release were included in combined treatment group (19 males and 11 females, aged (26±4) years), and 30 patients treated with fractional carbon dioxide laser alone were included in laser alone group (18 males and 12 females, aged (25±6) years). All the patients received the treatment once every two months, totally 3 times. Before the first treatment and 2 months after the last treatment, the scars were assessed by échelle d'évaluation clinique des cicatrices d'acné (ECCA). In 2 months after the last treatment, the curative effect was evaluated and the total effective rate was calculated according to the ECCA score. The adverse reactions of patients during the treatment were recorded. Data were statistically analyzed with independent sample t test, Wilcoxon rank-sum test, Mann-Whitney U test, chi-square test, and Fisher's exact probability test. Results: Before the first treatment, the ECCA scores of patients in the two groups were similar (P>0.05). In 2 months after the last treatment, the ECCA scores of patients in combined treatment group were significantly lower than those of laser alone group (Z=-2.89, P<0.05). The ECCA scores of patients in combined treatment group and laser alone group in 2 months after the last treatment were both significantly lower than those before the first treatment (with Z values of -4.81 and -4.79, respectively, P<0.05). In 2 months after the last treatment, the treatment in laser alone group cured the scars in 2 patients, and were markedly effective in 13 patients, effective in 7 patients, and ineffective in 8 patients; the treatment in combined treatment group cured the scars in 4 patients, and were markedly effective in 22 patients, effective in 3 patients, and ineffective in one patients. The total effective rate of scar treatment in combined treatment group (96.67%, 29/30) was significantly higher than 73.33% (22/30) in laser alone group (P<0.05). During treatment, in combined treatment group, 3 patients had pain, one patient had redness and swelling, and one patient had pigmentation. In laser alone group, one patient had pain, and 2 patients had pigmentation. No infection occurred in the wounds of all the patients in the two groups. Conclusions: Compared with fractional carbon dioxide laser alone, fractional carbon dioxide laser combined with minimally invasive scar release for post-acne atrophic scars can result in a higher total effective rate, with simple operation and good effect, so it is worthy of clinical application.


Asunto(s)
Masculino , Femenino , Humanos , Cicatriz/terapia , Estudios Retrospectivos , Resultado del Tratamiento , Láseres de Gas/uso terapéutico , Acné Vulgar , Atrofia , Dolor , Dióxido de Carbono
19.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-971317

RESUMEN

OBJECTIVE@#To evaluate the effect of wrist-ankle acupuncture (WAA) in pain and functional recovery after total knee arthroplasty (TKA).@*METHODS@#From June to September 2020, 94 participants were included from the Second Hospital of Tangshan and randomly assigned to the WAA group (47 cases) and the sham WAA group (47 cases) by a random number table, receiving real or sham WAA treatment, respectively. The primary outcome measure involved the visual analogue scale (VAS) scores at rest and in motion. The secondary outcomes involved the range of motion (ROM) of the knee joints, straight-leg raising time, postoperative weight-bearing time, sufentanil consumption within 48 h of patient-controlled analgesia (PCA) pump, length of hospital stay, and postoperative complications.@*RESULTS@#The VAS scores on the 3rd, 5th, and 7th postoperative days at rest and in motion was significantly lower in the WAA group than that of the sham WAA group (P<0.01). The ROM on the 1st, 2nd, and 3rd PODs was significantly higher in the WAA group than that of the sham WAA group (P<0.01). In comparison to the sham WAA group, the sufentanil consumption within 48 h of PCA pump was significantly less in the WAA group (156.3 ± 12.2 µg vs. 128.8 ± 9.8 µg, P<0.01). There was no significant difference in active straight-leg raising time, postoperative weight-bearing time, length of hospital stay, and postoperative complications between the two groups (P>0.05).@*CONCLUSIONS@#WAA could alleviate post-TKA pain, improve knee joint function, and reduce the sufentanil consumption within 48 h of PCA pump. WAA is a safe and effective treatment in the perioperative analgesic management for TKA.


Asunto(s)
Humanos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Tobillo , Muñeca , Sufentanilo , Dolor Postoperatorio/terapia , Terapia por Acupuntura/efectos adversos , Analgesia , Articulación de la Rodilla
20.
Rev. bras. med. esporte ; 29: e2022_0546, 2023. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1423416

RESUMEN

ABSTRACT Introduction Lower limb injuries are one of the main sports occurrences among athletes. Severe lower limb injuries will lead to the definitive end of the athlete's professional career. Objective Explore the mechanisms of prevention and intervention against lower limb injuries in physical training and the rehabilitation management strategies for lower limb injuries. Methods In this study, 20 athletes were selected. Comparing the results of the lower limb FMS test and balance y test before and after rehabilitation training management, the effect of rehabilitation management on recovery from lower limb injuries in physical training was discussed. Results Lower limb injury is a common type of sports injury in physical training; however, better recovery utilization can be achieved through successful rehabilitation training. Rehabilitation training management can effectively improve the FMS test score of athletes' lower limbs and the number of people who passed the Y balance test. However, the existing rehabilitation training program still has some limitations, which need to be corrected according to the individual conditions of athletes. Conclusion Through physical training and medical rehabilitation, athletes with lower limb injuries can recover their lower limb sports ability and prolong their sporting life. Therefore, it should be disseminated. Level of evidence II; Therapeutic studies - investigation of treatment outcomes.


RESUMO Introdução A lesão nos membros inferiores é uma das principais ocorrências esportivas entre os atletas. Lesões graves nos membros inferiores levarão ao encerramento definitivo da carreira profissional do atleta. Objetivo Explorar os mecanismos de prevenção e intervenção contra lesões dos membros inferiores no treinamento físico e as estratégias de gerenciamento de reabilitação para lesões dos membros inferiores. Métodos Neste trabalho, 20 atletas foram selecionados. Por meio da comparação dos resultados do teste FMS de membros inferiores e do teste de equilíbrio y antes e depois do gerenciamento do treinamento de reabilitação, foi discutido o efeito do gerenciamento de reabilitação na recuperação de lesões dos membros inferiores no treinamento físico. Resultados A lesão dos membros inferiores é um tipo corriqueiro de lesão esportiva no treinamento físico, porém um melhor aproveitamento da recuperação pode ser alcançado através de um treinamento de reabilitação bem-sucedido. O gerenciamento do treinamento de reabilitação pode efetivamente melhorar a pontuação do teste FMS dos membros inferiores dos atletas e o número de pessoas que passaram no teste de equilíbrio Y. Entretanto, o programa de treinamento de reabilitação existente ainda apresenta algumas limitações, que precisam ser corrigidas de acordo com as condições individuais dos atletas. Conclusão Através da combinação de treinamento físico e reabilitação médica, os atletas com lesão nos membros inferiores podem recuperar sua capacidade esportiva nos membros inferiores e prolongar uma vida esportiva. Portanto, convém difundi-lo. Nível de evidência II; Estudos terapêuticos - investigação dos resultados do tratamento.


RESUMEN Introducción Las lesiones en los miembros inferiores son uno de los principales sucesos deportivos entre los atletas. Las lesiones graves en los miembros inferiores conducirán al final definitivo de la carrera profesional del atleta. Objetivo Explorar los mecanismos de prevención e intervención contra las lesiones de los miembros inferiores en el entrenamiento físico, y las estrategias de gestión de la rehabilitación de las lesiones de los miembros inferiores. Métodos En este estudio se seleccionaron 20 atletas. Mediante la comparación de los resultados de la prueba de FMS de las extremidades inferiores y la prueba de equilibrio y antes y después de la gestión del entrenamiento de rehabilitación, se analizó el efecto de la gestión de la rehabilitación en la recuperación de las lesiones de las extremidades inferiores en el entrenamiento físico. Resultados Las lesiones en las extremidades inferiores son un tipo de lesión deportiva común en el entrenamiento físico, sin embargo, se puede lograr una mejor utilización de la recuperación mediante un entrenamiento de rehabilitación exitoso. La gestión del entrenamiento de rehabilitación puede mejorar eficazmente las puntuaciones de los atletas en las pruebas de FMS de las extremidades inferiores y el número de personas que superan la prueba de equilibrio Y. Sin embargo, el programa de entrenamiento de rehabilitación existente sigue teniendo algunas limitaciones, que deben corregirse en función de las condiciones individuales de los deportistas. Conclusión Mediante la combinación de entrenamiento físico y rehabilitación médica, los atletas con lesiones en las extremidades inferiores pueden recuperar su capacidad deportiva y prolongar su vida deportiva. Por lo tanto, debe difundirse. Nivel de evidencia II; Estudios terapéuticos - investigación de los resultados del tratamiento.

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