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Primary hyperoxaluria type 3 (PH3) is a rare monogenic nephrolithiasis caused by HOGA1 gene mutations. With the advancement of technology of genetic testing, the mutation site of PH3 patients can be clearly located, and the characteristics of genotype, phenotype, genotype-phenotype correlations are also gradually recognized. With the development of gene therapy, novel gene editing techniques and RNA interference treatments offer hope for the future of PH3 treatment. In this paper, the characteristics of genotype and phenotype, genotype-phenotype correlations of PH3 will be summarized and its future treatment will be prospected.
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Objective To investigate the difference between self-perceived risk and objective risk of stroke in the elderly population in Haikou area and explore the related factors in order to deter-mine the role of stroke knowledge in self-perceived risk.Methods A cross-sectional questionnaire survey was conducted on 584 elderly patients who were selected by convenience sampling from those taking physical examination in the First Affiliated Hospital of Hainan Medical College from September 2022 to April 2023.According to the accuracy of self-perceived risk of stroke,they were divided into an under-estimation group(170 cases),an accurate-estimation group(329 cases)and an over-estimation group(85 cases).Their self-perceived risk of stroke was assessed with the Stroke Risk Perception Questionnaire,and the objective risk of stroke was assessed with the Screening Criteria of Stroke High-Risk Group Screening Intervention Project of National Health Commission.Multivariate logistic regression model was used to analyze the factors related to the accuracy of self-perceived risk of stroke.One-way ANOVA was used to analyze the correlation be-tween the accuracy of self-perceived stroke risk and stroke knowledge.Results The participants with low,moderate,and high self-perceived risk of stroke accounted for 75.5％,20.5％and 3.9％,respectively.Compared with the objective risk assessment,the percentages of the participants with self-perceived stroke risk were 29.1％,56.3％and 14.6％,respectively,in the under-,accurate-and over-estimation groups.Significant differences were observed in gender,education level,smoking,drinking,exercise,fatty diet,fruit,overweight or obesity,and dyslipidemia among all groups(P＜0.05,P＜0.01).Multivariate logistic regression analysis showed that smoking,regular exercise,overweight or obesity and dyslipidemia were associated with accuracy of stroke risk perception in the accurate and the over-estimation groups when the under-estimation group was regarded as control(P＜0.01).The total score of stroke knowledge was 6.81±3.63,7.17±3.47 and 8.07± 3.24,respectively in the 3 estimation groups.The accuracy of self-perceived stroke risk was corre-lated with stroke knowledge(F=3.756,P=0.024).Conclusion Targeted health education should be implemented to make the elderly establish correct awareness of stroke risk,promote healthy behaviors and habits,and achieve the goal of early stroke prevention.
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Renal abscess caused by fish bone ingestion is extremely rare and has not been reported in the literature. A male patient presented with a 1-week history of flank pain and a 2-day history of fever. Urinary ultrasound and CT scan showed an irregular hypodense lesion in the left kidney and blurred thickening of the descending colon wall. Three-dimensional CT reconstruction images revealed a needle-like foreign body, which perforated from the descending colonic lumen to the left kidney. The patient had accidentally eaten fish bone one week prior. On the basis of clinical data, the diagnosis of renal abscess caused by foreign body was suspected. Accordingly, laparotomy was performed, the abscess was drained, and the colon was repaired. The foreign body was confirmed to be fish bone. The postoperative condition of the patient was uneventful, and the patient remained well in the 3 months' follow-up without any further complaints.
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BACKGROUND:The emergence of human induced pluripotent stem cel s (iPSCs)-derived dopaminergic neurons solves the problem that the embryonic stem cel (ESC) shows an ethical issue on its source, providing a promising cel source for treatment of Parkinson’s disease. OBJECTIVE:To summarize the differentiation methods of iPSCs-derived dopaminergic neurons in vitro, the choice of Parkinson’s disease models and the transplantation of iPSCs-derived dopaminergic neurons in the Parkinson’s disease treatment. METHODS:In order to search relevant articles about the application of iPSCs-derived dopaminergic neurons in the Parkinson’s disease models from PubMed databases (from 1980 to 2015), a computer-based search was performed by the first author, using the key words of“iPSC and Parkinson’s disease, induced pluripotent stem cel s and Parkinson’s disease, ES cel s and Parkinson, PD model, Parkinson and Lewy bodies”in English. Final y 40 articles were chosen for further analysis. RESULTS AND CONCLUSION:Here, this paper is detailed to show the research status of human iPSCs-derived dopaminergic neurons for treating Parkinson’s disease by reviewing the sources and in vitro differentiation schedules of iPSCs as wel as the choice of Parkinson’s disease models and outcomes of transplantation of iPSCs-derived dopaminergic neurons for Parkinson’s disease treatment. According to the Parkinson’s disease mechanism of the Lewy body, we analyze the generation mechanism of the Lewy body, providing references to avert the presence of Lewy bodies and optimize the outcomes of transplantation. The improvement of differentiation conditions of iPSCs can markedly improve the behavior outcomes, and moreover, we can systematical y evaluate the outcomes of transplantation by iconography and immunohistochemical results.
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@#ObjectiveTo study the therapeutic effects of cerebellar fastigial nucleus electrical stimulation (FNS) on motor and depression symptoms and monoamine neurotransmitters in the spinal cord fluid of patients with Parkinson's disease (PD).Methods65 patients with idiopathic Parkinson's disease following depression were divided into stimulation group (FNS+Madopar, n=35) and control group (Madopar, n=30). The stimulation group took Modopar, and treated with FNS, 30 miniutes once a day for 30 days. The control group took Modopar only. Madopar dose has no change during the treatment. The patients were evaluated by Webster Parkinson's Disease Evaluation Form, and Hamilton Depression Scale (HAMD) before and after FNS treatment. The loading of monoamine neurotransmitters was measured by high performance liquid chromatography-electrochemical process.ResultsAfter the treatment, the stimulation group improved in clinical feature and depression, scored significantly lower on Webster and HAMD than the control group(P<0.05); the loading of 5-hydroxytryptamine(5-HT) in spinal cord fluid increased; however noradrenalin and dopamine had no different. But there was no significant change in the symptoms and the loading of monoamine neurotransmitters in the control group.ConclusionFNS is efficient to relieve the motor and depression symptoms of PD, which possible mechamism might be central neuroprotection and the release of 5-HT by FNS induction.
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BACKGROUND: Several studies have demonstrated that sphingosine-l-phosphate(S1P)can induce the differentiation of adipose-derived stem cells differentiation into smooth muscle cells.Whether S1P,rather than 5-azacytidine,can be used as an inducer of mesenchymal stem cells differentiation into cardiomyocytes remains unclear.OBJECTIVE: To investigate the possibility that S1P promotes human umbilical cord mesenchymal stem cells(HUMSCs)differentiation into cardiomyocytes in the presence of different culture media.METHODS: HUMSCs were cultured with cardiomyocyte conditional medium(CMCM)and/or SIP media.At 1,5,and 10 days of culture,morphological changes of HUMSCs were observed.After culture for 10 days,the induced cells were confirmed by immunocytochemical analysis and patch clamp in terms of cell phenotype and function.RESULTS AND CONCLUSION: During the induction,some cells gradually enlarged,elongated,connected with adjacent cells,and formed myotube-like structures,and some cells congregated into cell clusters in the CMCM and CMCM+S1P groups.In the CMCM+S1P group,cells exhibited special perpendicular terrace-shaped,intercalated disc-like arrangement.Immunohistochemistry results revealed that some cells strongly express specific antibodies against sarcomeric myosin andα-actinin in the CMCM and CMCM+S1P groups.These findings suggest that HUMSCs can be induced to differentiate into cardiomyocytes.Through the use of patch clamp technique,a rapid ascending,but without plateau phase,action potential,a voltage dependent inward current,and a voltage dependent outward current were recorded in some cells from the CMCM+S1P group.These findings indicate that S1P plays a key role in promoting cardiomyogenic differentiation of HUMSCs and functional integration.