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Background Arsenic, cobalt, barium, and other individual metal exposure have been confirmed to be associated with the incidence of kidney stones. However, there are few studies on the association between mixed metal exposure and kidney stones, especially in occupational groups. Objective To investigate the association between mixed metal exposure and kidney stones in an occupational population from a metal smelting plant. Methods A questionnaire survey was conducted to collect sociodemographic characteristics, medical history, and lifestyle information of 1158 mixed metal-exposed workers in a metal smelting plant in Guangdong Province from July 2021 to January 2022. Midstream morning urine samples were collected from the workers, the concentrations of 18 metals including lithium, vanadium, chromium, manganese, cobalt, nickel, copper, zinc, arsenic, selenium, strontium, molybdenum, cadmium, cesium, barium, tungsten, titanium, and lead were measured by inductively coupled plasma mass spectrometry, and the urinary mercury levels were measured by cold atomic absorption spectroscopy. Based on predetermined inclusion criteria, a total of 919 mixed metal-exposed workers were included in the study, including 117 workers in the kidney stone group and 802 workers in the non-kidney stone group. With a detection rate of urinary metals greater than 80% as entry criterion, 16 eligible metals were finally included for further analysis. Parametric or non-parametric methods were used to compare the differences between continuous or categorical variables of the non-kidney stone group and the kidney stone group. Logistic regression models were constructed to explore the association between individual metal exposures and kidney stones. Weighted quantile sum (WQS) regression models were used to evaluate the association between mixed metal exposure and kidney stones, as well as the weights of each metal on kidney stones. Then Bayesian kernel machine regression (BKMR) models were used to explore the overall effect of mixed metal exposure on renal calculi and the potential interactions between metals. Results We found that there were significant differences in sex, age, length of service, and body mass Index (BMI) between the non-kidney stone group and the kidney stone group (P<0.05). The urinary concentrations of molybdenum and barium in the kidney stone group were higher than those in the non-kidney stone group, and the differences were statistically significant (P<0.05). The logistic regression models demonstrated that urinary cobalt, arsenic, molybdenum, and barium were positively correlated with the risk of kidney stones (Ptrend<0.05). The WQS regression models showed that the mixed exposure to vanadium, cobalt, arsenic, molybdenum, and barium was positively associated with the risk of kidney stones (P<0.05). Among them, molybdenum, arsenic, and barium accounted for 0.391, 0.337, and 0.154, respectively. The BKMR results revealed a positive association between metal mixture exposure and the risk of kidney stones (P<0.05). When other metals were fixed at the 25th, 50th, or 75th percentile, arsenic, molybdenum, cobalt, and barium exhibited significant positive effects on the risk of kidney stones (P<0.05), while vanadium showed a significant negative effect (P<0.05). The interaction analysis demonstrated interactions between barium and cobalt, as well as between vanadium and cobalt (P<0.05). Conclusion In the occupational population of this smelter, occupational mixed metal exposure could increase the risk of kidney stones, and the main metals are molybdenum, arsenic, barium, and cobalt.
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OBJECTIVE To study the extraction technology of Sophora flavescens-Phellodendron chinense drug pair and provide a reference for the development of new drugs for the treatment of anorectal diseases. METHODS Using the contents of total alkaloids of S. flavescens （matrine+oxymatrine）， berberine hydrochloride and total flavonoid， and extract yield as evaluation indicators， analytic hierarchy process-entropy weight method was used to calculate the weight coefficient of each indicator， and was combined with Box-Behnken design-response surface method to study the extraction technology of S. flavescens-P. chinense drug pair and verify it. RESULTS The optimal extraction technology of S. flavescens-P. chinense drug pair was immersed in 12-fold amount of 58% ethanol for 30 minutes and extracted twice， each time for 120 minutes. The relative error between the verification experimental results and the predicted value was 1.88%. CONCLUSIONS The obtained extraction technology is stable and feasible and can provide reference for the application of S. flavescens-P. chinense drug pair and development of new drugs.
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This article reviews the clinical studies about the treatment of allergic rhinitis （AR） with traditional Chinese medicine （TCM） in recent years. AR is a common and frequently occurring disease in the department of otolaryngology. The common manifestations of AR include nasal congestion， sneezing， runny nose， and nasal itching. AR， belonging to the category of rhinitis， is a dominant disease in the TCM treatment of otorhinolaryngologic diseases and head and neck diseases. The ancient literature has laid a solid theoretical basis on the etiology and pathogenesis of AR. According to the ancient literature， the theoretical basis， and their own experience， modern doctors classified the causes of AR into the disorders in Zang-fu organs and six meridians. Most of the explanations focus on the disorders in Zang-fu organs， especially the lung， spleen， and kidney. The clinical studies in this field mainly involve TCM treatment alone， integrated TCM and Western medicine treatment， and TCM external treatment. These therapies have good efficacy in the clinical treatment of AR. Among them， TCM treatment alone has significant advantages in alleviating the symptoms and nasal signs， declining the scores of related scales， and reducing the eosinophil count （EOS） of nasal secretions， with definite long-term efficacy. Integrated TCM and Western medicine treatment can complement with each other. The TCM external treatment methods include acupuncture， moxibustion， acupoint catgut embedding， acupoint application， and nasal irrigation with TCM， which are safe， simple， acceptable by patients and have good therapeutic effect. Finally， the clinical research status of TCM treatment of AR was summarized， and suggestions were put forward from three aspects： standardizing the clinical research protocol of TCM， encouraging pure TCM research， and exploring the mechanism of TCM treatment on the basis of frontier research achievements. This review aims to provide higher-level evidence for subsequent clinical research and promote the research on dominant AR diseases.
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To retrospectively analyze the clinical data of a case of shunt nephritis as the manifestation of systemic lupus erythematosus (SLE) admitted to the Department of Nephrology, Wuhan Children′s Hospital in November 2019, and to analyze its clinical characteristics and diagnosis and treatment through literature review.A 11-year-old female child was diagnosed as SLE for fatigue after exercise, onset of gross hematuria, auxiliary detection of anemia, hematuria albuminuria, hypocomplementemia, positive test for the antinuclear antibody, positive test for anti-human globulin, and hyperplastic lesions detected by renal pathology.However, immunosuppressive therapy was not effective.Considering the previous history of congenital hydrocephalus and ventricular and atrial shunt and through literature review, the patient was finally diagnosed was shunt nephritis.After active anti-infection and ventriculoatrial shunt to ventriculoperitoneal shunt, the symptoms were relieved.Shunt nephritis is a rare complication caused by ventricle shunt tract infection.Early recognition and treatment can avoid misdiagnosis and improve prognosis.
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Objective:To deeply understand the work experience and the needs of nurses in family accompanying ward of neonatology department, provide necessary support for nurses, promote the improvement of their nursing ability, and provide reference for peers who are going to carry out family accompanying ward.Methods:Phenomenological research method was used to conduct semi-structured in-depth interviews with 15 neonatology nurses who cared for children in the family accompanying ward in Children′s Hospital Affiliated to Zhejiang University School of Medicine from June 2022 to September 2022. Colaizzi 7-step analysis method was used to collect and collate data, and analyze and extract themes.Results:Four themes were analyzed, which were as follows: more emotional experience, nursing concept need to be changed, professional ability needs to be improved, and teamwork needs to be strengthened.Conclusions:Managers should pay attention to the pressure and needs of nurses in family accompanying wards, help release negative emotions to promote the physical and mental health of nurses, strive to change traditional nursing concepts, promote patient-and family-centered nursing work, strengthen the training of various related professional knowledge and communication skills, strengthen multidisciplinary teamwork, and improve the comprehensive caring ability of neonatology nurses in family accompanying wards.
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Enterotoxigenic Escherichia coli（ETEC）infection can induce watery diarrhea，leading to dehydration，electrolyte disturbance，and even death in severe cases. Recombinant B subunit/inactivated whole-cell cholera（rBS/WC）vaccine is effective in preventing ETEC infectious diarrhea. On the basis of the latest evidence on etiology and epidemiology of ETEC，as well as the effectiveness，safety，and health economics of rBS/WC vaccine，National Clinical Research Center for Child Health（The Children’s Hospital，Zhejiang University School of Medicine）and Zhejiang Provincial Center for Disease Control and Prevention invited experts to develop expert consensus on rBS/WC vaccine in prevention of ETEC infectious diarrhea. It aims to provide the clinicians and vaccination professionals with guidelines on using rBS/WC vaccine to reduce the incidence of ETEC infectious diarrhea.
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Background Occupational exposure to lead, cadmium, or arsenic is a potential risk factor for blood pressure elevation. Current studies mainly focus on the relationship between a single metal and blood pressure. However, mixed metal exposure often exists in the actual working environment, and the interactive effects of polymetallic interactions on blood pressure and the dose-effect relationship remain unclear yet. Objective To explore the influence proportion of occupational exposure to lead, cadmium, or arsenic on blood pressure and their interactive effects. Methods From January to December 2021, workers from a smelter in southern China were selected. Demographic characteristics, height, weight, and blood pressure of workers were collected through questionnaire and physical examination. At the same time, their urine samples were collected and the levels of urinary lead, urinary cadmium, and urinary arsenic were detected by inductively coupled plasma mass spectrometry, and corrected by urinary creatinine (Cr). Linear regression and logistic regression were used to analyze the relationship between urinary lead, cadmium, and arsenic and blood pressure. Weighted quantile sum (WQS) regression was applied to evaluate the dose-effect relationship between urinary lead, cadmium, and arsenic exposures and blood pressure and the effect weight of each metal on blood pressure. Generalized linear regression and additive/multiplicative scaling were used to identify interactive effects of the three metals on blood pressure. Results A total of 1075 workers were included in this study, with a mean age of (44.68±5.11) years and mean working seniority of (24.66±5.23) years. There were 891 males (88.9%) and 184 were females (17.1%); 24.7% workers were drinkers and 45.7% workers were smokers; 302 workers (28.1%) reported hypertension and 37 of them were taking antihypertensive drugs. The P50 (P25, P75) levels of urinary lead, urinary cadmium, and urinary arsenic were 6.11 (3.71, 11.08), 3.88 (2.68, 5.44), and 26.04 (19.99, 35.11) μg·g−1, respectively. After adjusting for gender, age, working seniority, body mass index, smoking, drinking, and the usage of antihypertensive drugs, systolic and diastolic blood pressure increased by 0.772 and 0.418 mmHg respectively for 10% increase in lead, cadmium, and arsenic mixed exposure. Urinary cadmium, among the three single exposures, had the greatest effect on systolic and diastolic blood pressure, weight (w)=0.523 and 0.551 respectively. The interaction of urinary lead and urinary cadmium was positively correlated with the occurrence of hypertension, multiplicative interaction OR (ORint)=1.88 (95%CI: 1.09, 3.63), attributable proportion due to interaction (AP)=1.19 (95%CI: 0.40, 8.18). Conclusion This study shows that mixed exposure to lead, cadmium, and arsenic has a positive relationship with blood pressure, in which cadmium plays a major role. Co-exposure to lead and cadmium has a positive interactive effect on hypertension development and systolic blood pressure elevation.
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Objective: To investigate the effect of combined exposure to four heavy metals (lead, cadmium, arsenic, mercury) on early kidney injury in occupational population. Methods: A total of 384 workers exposed to combined heavy metals in a non-ferrous metal smelting plant in Guangdong Province were selected as the research subjects using judgment sampling method. The levels of blood lead, urinary cadmium and urinary arsenic were detacted by inductively coupled plasma mass spectrometry, while urinary mercury levels were measured using cold atomic absorption spectroscopy (acidic tin chloride reduction method). The levels of biomarkers such as urinary β2-microglobulin (β2-MG), kidney injury molecule-1 (Kim-1) and neutrophil gelatinase-associated lipocalin (NGAL) were detected by enzyme-linked immunosorbent assay. Spearman correlation analysis, linear regression, weighted quantile sum (WQS) regression and Bayesian kernel machine regression (BKMR) models were used to analyze the association between the exposure to the four heavy metals and early kidney injury biomarkers. Results: The median of blood lead, urinary cadmium, urinary arsenic and urinary mercury were 0.47 μmol/L and 4.450, 27.790 and 0.520 μg/gCr, respectively. The median of urinary β2-MG, Kim-1 and NGAL were 62.960, 1.130 and 18.150 μg/gCr, respectively. Spearman correlation analysis showed that urinary levels of β2-MG, Kim-1, and NGAL were weakly correlated with blood lead and urinary mercury levels (all P<0.01), but not correlated with urinary cadmium and urinary arsenic (all P>0.05). The results of multiple linear regression analysis showed that urinary mercury was positively correlated with urinary β2-MG, Kim-1 and NGAL (all P<0.01), urinary arsenic was positively correlated with urinary β2-MG level (P<0.01), and blood lead was negatively correlated with urinary β2-MG and Kim-1 (all P<0.05). The WQS regression analysis showed that the combined effect of the four heavy metals was positively correlated with urinary β2-MG, Kim-1 and NGAL (all P<0.01), with mercury having the highest impact and lead the lowest. BKMR model analysis showed the increasing trend in urinary β2-MG, Kim-1 and NGAL with the increasing levels of the combined exposure to the four heavy metals. Urinary β2-MG, Kim-1 and NGAL decreased when urinary mercury level increased from the 25th percentile to the 75th percentile and the other metals were correspondingly fixed at a certain level. When the blood exposure levels of other metals remained at the corresponding median levels, urinary β2-MG, Kim-1 and NGAL levels were positively correlated with urinary arsenic level, but no significant linear dose-response relationship was observed with the other three heavy metals. Conclusion: sLead, arsenic, and mercury are independently associated with early kidney injury biomarkers in occupational population from non-ferrous metal smelting. The four heavy metals had positive combined effects on urinary β2-MG, Kim-1 and NGAL, with mercury having the greatest impact.
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Objective:To assess the relationship between appendicular skeletal muscle mass (ASM) and ankle brachial index (ABI) among patients with type 2 diabetes.Methods:In this cross-sectional study, from July 2018 to March 2019, a total of 278 patients with type 2 diabetes treated in Zhongda Hospital were enrolled in this study, and there were 158 males and 120 females. General information and clinical biochemical parameters and ABI in the patients were collected. The appendicular muscle mass was quantitatively measured with body composition analyzer to achieve ASM. And the appendicular skeletal muscle mass index (ASMI), skeletal muscle index (SMI), and appendicular skeletal muscle mass/body mass index (ASM/BMI) were calculated respectively. Correlation analysis and multiple linear regression analyses with different adjustment models were conducted to analyze the correlation between ABI and above-mentioned indexes.Results:The Pearson correlation analysis showed that ABI had significant positive correlation with ASM, ASMI and ASM/BMI ( r=0.14, 0.13, 0.13, all P<0.05), but a marginal relation with SMI ( r=0.116, P=0.053). Multiple linear regression analysis suggested that ASMI ( β=0.053, 95% CI: 0.006-0.101, P=0.027) and AMI/ABI ( β=0.347, 95% CI: 0.040-0.654, P=0.027) were significantly related to ABI. Conclusion:ASM is positively associated with ABI in patients with type 2 diabetes.
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OBJECTIVE To provide reference for clinically safe and rational drug use through mining and analyzing adverse drug event （AE） signals induced by valproic acid （VPA）. METHODS Reporting Odds Ratio （ROR） and Bayesian Confidence Propagation Neural Network （BCPNN） methods of Measures of Disproportionality were performed to mine and analyze the data of VPA-related AE reports in the US FDA Adverse Event Reporting System （FAERS） database from the first quarter of 2013 to the fourth quarter of 2022. RESULTS A total of 1 253 （ROR） and 1 109 （BCPNN） valid signals of preferred terms （PT） were obtained after data processing by the two analysis methods， involving 27 system organs （SOC）， mainly focusing on nervous system disorders， psychiatric disorders， general disorders and administration site conditions. Signals that did not appear in the instruction were associated with 2 SOCs： ear and labyrinth disorders， infections and infestations. CONCLUSIONS As a first-line broad-spectrum anti-epileptic drug， attention should also be paid to eye toxicity and infection risk in the clinical application in addition to paying attention to common adverse events in the instruction.
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Scanning electron microscopy (SEM) was used to observe the macroscopic, microscopic, and cross-sectional structures of the claws of Cyrtotrachelus buqueti Guer (Coleoptera: Curculionidae), and a mathematical model of a claw was used to investigate the structure-function relationships. To improve the quality of the SEM images, a non-local means (NLM) algorithm and an improved NLM algorithm were applied. After comparison and analysis of five classical edge-detection algorithms, the boundaries of the structural features of the claw were extracted based on a B-spline wavelet algorithm, and the results showed that the variable curvature of the beetle claw enhances its adhesion force and improves its strength. Adhesion models of the claw were established, and the mechanical properties of its biomaterials were measured using nanoindentation. Considering that the presence of water can affect the hardness and Young's modulus, both 'dry' and 'wet' samples were examined. For the dry samples, the hardness and Young's modulus were 0.197 ± 0.074 GPa and 1.105 ± 0.197 GPa, respectively, whereas the respective values for the wet samples were both lower at 0.071 ± 0.030 GPa and 0.693 ± 0.163 GPa. This study provides data that can inform the design of climbing robots.
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Coleoptera , Hoof and Claw , Weevils , Animals , Cross-Sectional Studies , Models, TheoreticalABSTRACT
Objective:To isolate and identify the phenotype and biological characteristics of human placental microvascular endothelial cells(HPMEC).Methods:The HPMEC were isolated from term placenta and cultured in ECM medium. The morphology of the cells was observed under microscope. The functions of HPMEC were detected by uptake of Dil-Ac-LDL, tube formation and cell proliferation. Western Blot was used to detect the expression of endothelial nitric oxide synthase (eNOS), PROKR1 and PROKR2.Results:The HPMEC isolated from the placenta could expressed eNOS, PROKR1 and PROKR2, and were capable of the functions of Dil-Ac-LDL uptaking, tube formation, cell proliferation.Conclusions:HPMEC can be isolated from the placenta, proliferate effectively in vitro and maintain the characteristics of endothelial cells.
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Objective:To investigate whether rumination and family functioning can predict the level of depression after 1 year of follow-up in patients with first-episode depression, and whether family functioning plays a mediating role between rumination and depression level.Methods:Sixty-five patients with first-episode depression who met the enrollment requirements were included, and all subjects were assessed the 17-item Hamilton depression scale(HAMD-17), rumination response scale(RRS) and family assessment device(FAD). All subjects were followed up for 1 year, and the predictive effects of rumination and family functioning at baseline on the level of depression after 1 year of follow-up were investigated by hierarchical linear regression analysis and mediation analysis.Results:At the baseline stage, rumination, role, affective involvement (AI) and general functioning (GF) were significantly positively associated with depression level after 1 year of follow-up in patients with first-episode depression ( r=0.49, P<0.01; r=0.30, P=0.02; r=0.43, P<0.01; r=0.50, P<0.01; respectively). Rumination, AI and GF at the baseline stage predicted depression level after 1 year of follow-up ( β=0.315, t=2.954, P=0.005; β=0.261, t=2.550, P=0.013; β=0.323, t=2.952, P=0.005). Mediation analysis showed that AI and GF partially mediated the relationship between rumination at baseline and depression level at 1 year follow-up (point estimate value for AI=0.040, 95% CI=0.012-0.090); point estimate value for GF=0.066, 95% CI=0.017-0.143). Conclusions:Rumination and family functioning at baseline in first-episode depressed patients can predict the depression level at 1 year follow-up.Family functioning partly mediates the relationship between the baseline rumination and the depression level at 1 year follow-up.
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Herpes simplex virus encephalitis (HSE) is a common form of viral encephalitis, often with a single-phase course. A case of HSE with abnormal mental behavior as the main manifestation, admitted in Peking University Shenzhen Hospital in Octorber 2020, which improved after sufficient antiviral treatment was reported. After 2 months, abnormal mental behavior with memory deterioration recurred. It was considered as anti-N-methyl-D-aspartate receptor antibody combined with anti-glutamic decarboxylase antibody double-positive encephalitis, and improved after rituximab treatment. At present, there is no clinical report of such double antibody positive autoimmune encephalitis secondary to HSE. The purpose of this case report is to raise clinician awareness of post-HSE autoimmune encephalitis.
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Whether Fanconi anemia (FA) heterozygotes are predisposed to bone marrow failure and hematologic neoplasm is a crucial but unsettled issue in cancer prevention and family consulting. We retrospectively analyzed rare possibly significant variations (PSVs) in the five most obligated FA genes, BRCA2, FANCA, FANCC, FANCD2, and FANCG, in 788 patients with aplastic anemia (AA) and hematologic malignancy. Sixty-eight variants were identified in 66 patients (8.38%). FANCA was the most frequently mutated gene (n = 29), followed by BRCA2 (n = 20). Compared with that of the ExAC East Asian dataset, the overall frequency of rare PSVs was higher in our cohort (P = 0.016). BRCA2 PSVs showed higher frequency in acute lymphocytic leukemia (P = 0.038), and FANCA PSVs were significantly enriched in AA and AML subgroups (P = 0.020; P = 0.008). FA-PSV-positive MDS/AML patients had a higher tumor mutation burden, higher rate of cytogenetic abnormalities, less epigenetic regulation, and fewer spliceosome gene mutations than those of FA-PSV-negative MDS/AML patients (P = 0.024, P = 0.029, P = 0.024, and P = 0.013). The overall PSV enrichment in our cohort suggests that heterozygous mutations of FA genes contribute to hematopoietic failure and leukemogenesis.
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Humans , Anemia, Aplastic/genetics , Epigenesis, Genetic , Fanconi Anemia/genetics , Germ Cells , Hematologic Neoplasms/genetics , Leukemia, Myeloid, Acute/genetics , Retrospective StudiesABSTRACT
Objective@#To investigate the change in intestinal flora in Mongolian students with anxiety,so as to provide basis for exploring the relationship between flora and secretion expression in vivo.@*Methods@#The Self rating Anxiety Scale(SAS)was used to assess anxiety in medical college students; then a semi structured interview was administered. Fecal samples that met the inclusion criteria were collected and divided into anxiety (SAS score≥50) and control groups (no anxiety, SAS score<50) according to the standard score of SAS. Samples provided by Mongolian female students were selected from each group. The total bacterial DNA was extracted from the fecal samples for PCR amplification and NovaSeq 2x250bp high throughput sequencing was performed for the V3- V4 region of 16S rDNA gene to obtain the biological information of the intestinal flora. The intergroup OTU, structural diversity, significant difference, and LEfSe analyses were performed with information mining of the literature think tanks.@*Results@#Anxiety existed in 23.86% of the Mongolian students,and 16.96% of the Han people. A Chi square test showed no significant difference in detection of anxiety between Mongolian and Han college students ( P =0.07). Analysis of the alpha diversity index showed that the Shannon index, Simpson index, Chao1 index, and Observed species did not differed significantly between the two groups( t =8.0， 9.0 ，6.0，6.5). The difference in abundance of some bacteria was significant at the Class, Order, Family, and Genus levels between the two groups( t =-2.26-2.57，-5.08-3.58，-2.65-2.09， P <0.05).@*Conclusion@#The alpha diversity index showed that there was no significant difference in the abundance and diversity of intestinal flora between the two groups. While there were significant differences at different classification levels, the results suggest that the structure of intestinal flora can change in students with anxiety.
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Objective:To explore the effect of electroacupuncture on the expression of N-methyl-D-aspartic acid (NMDA) in the spine and the activity of α 2 adrenergic receptors in rats with stress urinary incontinence (SUI). Methods:In all, 48 adult female rats were randomly divided into a sham operation group, a model group and an acupuncture group. The sham operation group received sham vaginal distention. Both the model and acupuncture groups had SUI induced using endovaginal balloon dilatation. The former group then had no further intervention, while the latter was given acupuncture on the sanyinjiao point for one week. Urodynamic testing and leak point pressure (LPP) determination were then conducted with all three groups, as well as urethral sphincter electromyography. The expression of NMDA in the L 6-S 1 spinal segments using the polymerase chain reaction and α 2 adrenergic receptor activity was analyzed using western blotting. Results:No significant differences in the urodynamic variables were observed among the three groups. However, compared with the sham operation group, a significant decrease in the average LPP and the frequency and amplitude of the external urethral sphincter electromyography was observed in the model group. Moreover, compared with the model group, the acupuncture group showed significantly increased average LPP and higher electromyographic frequency and amplitude. The average mRNA and protein expression of NMDA in the spine were also significantly higher in the acupuncture group, as was the average α 2 receptor activity. Conclusions:Vaginal distention is an effective method of establishing urinary incontinence in rats. Electroacupuncture can not only improve the ability to store urine, it also increases urination, which may be related to the up-regulation of the expression of NMDA and α 2 adrenergic receptors.
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Objective:To observe and analyze the clinical characteristics and correlation between the eye and nervous system in children with infantile gangliosideosis.Methods:From November 2018 to January 2021, 3 children with infantile ganglion lipidosis diagnosed by genetic examination in the Department of Ophthalmology and Neurology, Beijing Children's Hospital of Capital Medical University, and through China National Knowledge Infrastructure and Wanfang database and The National Library of Medicine of the United States (PubMed) were searched, and 53 cases of Chinese infantile gangliosideosis diagnosed by gene, enzyme activity or pathological examination were selected and a total of 56 cases were included in the study. The searching time was from the establishment of the database to February 2021, and the search keywords are"gangliosideosis", "cherry-spot" macula and "Chinese". The demographic characteristics of 56 cases of children and other system manifestations were analyzed such as eyes, nervous system, skin, bones. According to the presence or absence of cherry-spot (CS) on the fundus examination, the children were divided into a fundus CS group (group A) and a fundus without CS group (group B), with 20 and 27 cases, respectively. The age of onset, gender, different types and neurological manifestations of the two groups of children were compared and analyzed. The non-parametric rank sum test was used for age comparison between groups; the χ2 test or Fisher's exact test were used for the comparison of gender, disease type and incidence between groups. Results:Among the 56 children, 27 were males and 29 were females; the median age of onset was 7.0 months. There were 33 and 23 cases of GM1 and GM2, respectively. Among 44 children with visual function examination records, 41 cases (93.2%, 41/44) were unable to follow the visual object. Of 47 children who underwent ocular fundus examination, 20 cases (42.6%, 20/47) had CS on the fundus. The main manifestations of the nervous system are neuromotor development regression or retardation (100%, 56/56), convulsions (58.1%, 25/43), and "startle" phenomena (89.7%, 26/29). Among 42 patients with brain magnetic resonance imaging examination records, 39 cases (92.9%) were abnormal. The incidence of "startle" and seizures in group A was higher than that in group B, and the difference was statistically significant ( χ2=5.815, 6.182, P=0.021, 0.013). Conclusios:Chinese infantile gangliosideosis is more common in GM1 type. Ocular visual impairment is the visual object as the main manifestation, the incidence of fundus CS is 42.6%, and the symptoms of neurological damage in children with CS are more severe.
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OBJECTIVE@#To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.@*METHODS@#Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome.@*CONCLUSION@#Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.
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Child , Humans , Exons , Fibrillin-1/genetics , Heart Defects, Congenital , Marfan Syndrome/genetics , Mutation , Sequence Deletion , Exome SequencingABSTRACT
Idiopathic hypoparathyroidism is a rare endocrine disease. It is often manifested as neuropsychiatric symptoms, especially epileptic seizures. Thus, it is easy to be misdiagnosed as primary epilepsy. The following case report details the diagnosis of a 17-year-old girl who had been misdiagnosed as primary epilepsy for a long time. She was found hypoparathyroidism during the hospitalization for the operation of ovarian mixed germ cell tumor. After whole exome sequencing, she was ultimately diagnosed as 22q11.2 deletion syndrome. This case suggested that clinicians should be aware of the possibility of hypoparathyroidism in adolescent epilepsy, especially hereditary hypoparathyroidism. At the same time, the possible high risk of tumors should also be considered in hereditary hypoparathyroidism.