Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes（MELAS） is a rare hereditary mitochondrial disease that can be diagnosed by detecting mitochondrial gene mutations in peripheral blood and urine. This article analyzes a case of MELAS diagnosed by urinary mitochondrial gene detection， in order to understand the importance of urine specimens in mitochondrial gene detection.
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Objective To compare therapeutic efficacy of anticoagulation alone and combining with intervention for treating severe cerebral venous thrombosis(CVT).Methods Data of 65 severe CVT patients were retrospectively analyzed.The patients were divided into anticoagulation group(n=32)or combined group(n=33)according to therapeutic methods.The modified Rankin scale(mRS)score at admission and discharge,the prognosis of patients,vascular recanalization rate as well as incidence of complications during follow-up period were compared between groups.Results No significant difference of mRS scores at admission was found between groups(P＞0.05),while mRS scores of combined group were lower than of anticoagulation group at discharge(P＜0.05).The rate of good prognosis at discharge(84.85%vs.59.38%),6 months after discharge(87.88%vs.65.63%)and 12 months after discharge(93.94%vs.75.00%)in combined group were all higher than those in anticoagulation group(all P＜0.05).The vascular recanalization rate in combined group was higher than that in anticoagulant group(100%vs.75.00%,P＜0.05).At the end of follow-up,no significant difference of complication incidence was found between groups(15.15%vs.18.75%,P＞0.05).Conclusion For patients with severe CVT,anticoagulation combined with interventional therapy could significantly alleviate clinical symptoms and improve prognosis compared with anticoagulation alone.

Objective To observe the value of stent implantation for treating idiopathic intracranial hypertension(IIH)complicated with venous sinus stenosis(VSS).Methods Data of 54 patients with IIH complicated with VSS who underwent stent implantation were retrospectively analyzed.The papillary edema grade,lumbar puncture-opening pressure(LP-OP)and trans-stenotic pressure gradient of venous sinus(ΔP)before and after stent implantation were compared,and the symptom improvement and treatment-related complications during the follow-up period were recorded.Results Totally 60 stents were successfully implanted in 54 patients.Before stent implantation,the papillary edema grade was 3(3,3),LP-OP was(391.39±92.62)mmH2O and the ΔP was 18.50(15.00,25.00)mmHg,which decreased to 1(0,1),(208.80±62.31)mmH2O and 1.25(0.88,2.55)mmHg after stent implantation,respectively,all with significant differences(all P＜0.001).Clinical symptoms improved after stent implantation in all 54 patients.At the end of follow-up,disappearance of headache,papillary edema,visual disorder,abducent nerve paralysis and tinnitus were noticed in 30(30/37,81.08%),38(38/45,84.44%),41(41/45,91.11%),8(8/10,80.00%)and 9 cases(9/10,90.00%),respectively.Treatment-related complications occurred in 4 cases(4/54,7.41%),all improved after intervention.Conclusion Stent implantation was effective and safe for treating IIH complicated with VSS.

Purpose To explore the value of deep learning ultrasound radiomics nomogram in assessing the biological characteristics of invasive metastases in invasive breast cancer.Materials and Methods A retrospective collection of ultrasound imaging data from 180 pathologically confirmed invasive breast cancer between January 2021 to December 2022 in Maoming People's Hospital was conducted,with pathological reports indicating the status of lymph node metastasis(LNM),lymphovascular space invasion(LVSI)or perineural invasion(PNI),according to the LNM/LVSI/PNI status,the three indexes were divided into the training cohort and the verification cohort by 8∶2.Based on Pyradiomics and ResNet50 deep learning extractor,1 316 radiomic features and 2 048 deep learning features were extracted,respectively.The random forest machine learning algorithm was employed to develop evaluation models,and the model scores were calculated.The deep learning radiomics nomograms were developed based on the radiomic and deep learning model scores.The receiver operating characteristic curve was used to assess the performance of the models.The Delong test was applied to analyze the performance differences between different models.Results In the evaluation of LNM,LVSI and PNI status,the area under the curve of all the nomogram in the cohorts demonstrated moderate or above assessment performance(≥0.73),with accuracies all greater than 0.70.Specifically,in the LNM evaluation,the area under the curve of the training cohort was 0.97,the accuracy was 0.93,the sensitivity was 0.88 and the specificity was 0.96.Through the Delong test,the assessment performance of the nomograms was superior to the radiomics models(LNM,Z=2.04,P=0.04;LVSI,Z=2.80,P=0.01;PNI,Z=3.52,P<0.01),and was superior to or similar to the deep learning models(LNM,Z=4.52,P<0.01;LVSI,Z=1.86,P=0.06;PNI,Z=0.31,P=0.76)in the training cohort.Conclusion The deep learning radiomics nomogram can effectively evaluate the biological characteristics of invasion and metastasis in invasive breast cancer.The nomogram improves the assessment performance by integrating the radiomic and deep learning feature information.

Objective:To evaluate the feasibility, safety, treatment outcome, and the individualized surgical procedure selection of the interventional treatments of chylous leakage.Methods:From July 2019 to January 2022, the clinical data of 60 consecutive patients with chylous leakage underwent interventional treatment were respectively analyzed. The cases included chylothorax ( n=37), chylous ascites ( n=10), chyluria ( n=4), chylothorax combined with chylous ascites ( n=5), chylothorax combined with chylopericardium ( n=2), and pelvic chylous effusion ( n=2). Conservative treatment was considered to have failed for all patients. The lymphangiography was firstly performed to detect chylous leakage, then an individualized procedure was selected according to the lymphangiography results. The treatment outcomes and complications were recorded, and follow-up was performed. Results:Lymphangiography was technically successful in 55 of 60 patients (91.7%), and no cisterna chyli and thoracic duct opacification was observed in 5 patients. The procedures for the patients included lymphangiography alone ( n=23), thoracic duct embolization ( n=23), thoracic duct disruption ( n=5), lymphatic embolization for pelvic chylous effusion ( n=4), and balloon plasty for thoracic duct ( n=5). Clinical success was achieved in 53 of 60 cases (88.3%). The complication rate was 8.3% (5/60), and all complications were minor. The median follow-up time was 11 months (range 0.5-30 months) for 56 patients, and 4 patients were lost to follow-up. There was one patient presenting the reoccurrence of symptom, and 8 patients died. Conclusions:The interventional treatment of chylous leakage is safe with good outcomes and low complication rate. Individualized treatment procedures based on the lymphangiography findings is feasible and with good curative effect.

Background A number of studies have shown that heavy metals in atmospheric PM_2.5 have impacts on human health, while studies on the impact of long-term and low-concentration exposure to lead in PM_2.5 on human health are limited. Objective To investigate the pollution characteristics of lead in ambient PM_2.5 and assess its chronic health risks. Methods Daily PM_2.5 concentration data in Jinan from 2014 to 2019 were collected, and the year-by-year trend of PM_2.5 concentration was analyzed. Licheng District (an industrial area) and Shizhong District (a residential area) were elected to install an ambient PM_2.5 monitoring stationrespectively. The sampling instrument was a 100 L·min⁻¹ high-flow PM_2.5 sampler, with a cumulative sampling time of 20-24 h per day, using a quartz fiber filter membrane for lead detection and a glass fiber filter membrane for PM_2.5 determination. The sampling frequency was 7 consecutive days per month from the 10^th to the 16^th (A total of 493 d were sampled and some were missing; 172 d during the heating period and 321 d during the non-heating period). Two PM_2.5 samples were collected in one monitoring site each day. A total of 986 samples were collected in one monitoring site. The lead content in PM_2.5 samples was detected by inductively coupled plasma mass spectrometry. The concentration of PM_2.5 was measured by weighing method. The annual average concentration and enrichment factor of lead in PM_2.5, the change trend of lead content per unit mass of PM_2.5, and the difference between heating period and non-heating period from 2014 to 2019 were estimated. Technical guide for environment health risk assessment of chemical exposure (WS/T 777-2021) was used to assess the health risks of exposure to lead in PM_2.5. Results The average annual concentration of lead in PM_2.5 ranged from 23.2 ng·m⁻³ to 154.7 ng·m⁻³. The average concentration in heating period from 2015 to 2019 was higher than that in non-heating period, and the differences in 2015, 2017, and 2019 were statistically significant (P < 0.01 or 0.001). The enrichment factors ranged from 200 to 1342 in 2014 to 2019. The average enrichment factors in heating period in 2015, 2017, and 2018 was higher than those in non-heating period, and the difference was statistically significant (P < 0.05 or 0.001). The lead contents per unit mass of PM_2.5 ranged from 493 ng·mg⁻¹ to 1944 ng·mg⁻¹, and the differences between heating period and non-heating period in 2014, 2017, and 2018 were statistically significant (P < 0.05 or 0.001). The average annual concentration and enrichment factor of lead in PM_2.5 showed a downward trend, and thus the lead content per unit mass of PM_2.5 also decreased. From 2014 to 2019, the carcinogenic risk of lead in PM_2.5 in Jinan ranged from 1.69×10⁻⁸ to 2.45×10⁻⁶, showing a significant downward trend year by year, and the 95^th percentile decreased by 3%-46% from the previous year. The carcinogenic risk level of lead was reduced to an acceptable level (<1×10⁻⁶) after 2017. Conclusion From 2015 to 2019, lead concentration and enrichment factor in PM_2.5 increase during heating period compared with non-heating period, but it is not completely consistent of lead content in PM_2.5 per unit mass. From 2014 to 2016, exposure to lead in PM_2.5 may elevate carcinogenic risk to human. After 2017, the carcinogenic risks of exposure to lead in PM_2.5 are at an acceptable level.

Objective To observe the therapeutic effect of endovascular embolization for perimedullary arteriovenous fistula(PMAVF).Methods Data of 8 PMAVF patients who underwent endovascular embolization were retrospectively analyzed.Findings of digital subtraction angiography(DSA)immediately and 6 months after treatment were reviewed,and the modified Aminoff-Logue score(mALS)was compared before and 6 months after treatment.Results Among 8 cases of PMAVF,there were 2 cases of type Ⅰ,5 cases of type Ⅱand 1 case of type Ⅲ,among them 3 were treated with Onyx glue while 5 with Glubrane glue.The immediate DSA results after treatment showed complete embolization of the fistula in all 8 cases,while those 6 months after treatment showed no recurrence.One case recovered and the other 7 cases improved,and mALS(2.25±2.12)6 months after treatment was lower than that(5.50±2.39)before treatment(P＜0.05).Conclusion Endovascular embolization could safely and effectively treat PMAVF.

Objective:To establish the common carotid artery aneurysm models of Wallstent double stent overlapping implantation in miniature pigs, and evaluate the safety and effectiveness of this procedure by observing the imaging and pathological changes.Methods:Sidewall aneurysm and fusiform aneurysm models in Bama miniature pigs were established surgically and 2 Wallstent stents were overlapped and implanted in situ. Aneurysm healing immediately after surgery and during 8 weeks of follow-up were evaluated according to 2D-DSA by O'Kelly-Marotta (OKM) grading scale and Kamran scale; degrees of stent adhesion immediately after surgery and status of stent endothelialization and aneurysm healing at 2, 4, and 8 weeks after surgery were observed by high resolution C-arm CT(HR-CBCT) and optical coherence tomography (OCT); and the changes of stent endothelialization were evaluated by comparing the HR-CBCT and OCT results with histopathology at 8 weeks after surgery. Perioperative adverse events were recorded.Results:After successful establishment of common carotid artery aneurysm models (including 4 sidewall aneurysms and 4 fusiform aneurysms with average diameter of [11.0±2.8] mm) in 8 miniature pigs, a total of 16 Wallstent stents (2 in each aneurysm) were implanted across the aneurysmal neck, with a technical success rate of 100%. No serious complications such as acute stent thrombosis, or aneurysm rupture and bleeding were observed in the perioperative period. The 2D-DSA immediately after surgery showed obvious intracranial contrast agent retention in 6 patients (1 patient in grading 1, 3 in grading 2, and 2 in grading 3) and aneurysm occlusion in 2 patients (grading 4). Eight weeks after follow-up, all 8 aneurysms had complete occlusions (grading 4); and 2 experimental pigs had in-stent restenosis, with stenosis rates of 52% and 67%, respectively. HR-CBCT and OCT immediately after surgery and during follow-up indicated that the stent metal braid was gradually covered by proliferating intima, with disappeared aneurysm. The cause of in-stent restenosis in 2 experimental pigs was local intima hyperplasia resulted from poor stent adhesion, and pathological findings indicated that the intima hyperplasia was mainly composed of smooth muscle cells and fibrous connective tissues.Conclusion:In animal models, Wallstent stent overlapping implantation is safe and effective in common carotid aneurysms, but intraoperative adverse adhesion of overlapping stent should be avoided.

Objective:To explore the mechanism of Huang'e capsule in the treatment of chronic prostatitis (CP) based on network pharmacology and molecular docking.Methods:The drug ingredients of Huang'e Capsule were screened by searching the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), the Encyclopedia of Traditional Chinese Medicine (ETCM), and some other literature materials. The drug component targets were predicted using Swiss Target Prediction, and the CP disease targets were obtained using GeneCards, OMIM, and GisGeNET. The intersection targets were obtained by Venny 2.1.0. A protein-protein interaction (PPI) network was constructed by STRING and Cytoscape software. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were carried out by Metascape. The "drug-ingredient-target-pathway" network was established by Cytoscape software. Molecular docking was carried out with PubChem, PDB, PyMoL, and AutoDock.Results:It was found that 142 active ingredients in Huang'e Capsule acted directly on 286 disease targets through multiple pathways for CP treatment, with cyasterone, morin, quercetin, kaempferol, luteolin, and isorhamnetin as core ingredients and ESR1, CDK1, APP, SYK, and EGFR as core targets. GO enrichment analysis showed that the most likely related BP of the intersection genes mainly includes cellular reaction to nitrogen-containing compounds, inorganic substances, organic cyclic compounds, etc., CCs mainly involved in membrane rafts, receptor complexes, membrane sides, etc., and MF includes protein kinase activity, nuclear receptor activity, and kinase binding, etc. It can be found in KEGG enrichment analysis that Huang'e Capsule is mainly involved in the phosphatidylinositol-3-kinase/protein kinase B (PI3K/Akt) signaling pathway and the HIF-1 signaling pathway. Molecular docking indicated that the core target had a great affinity with the core active ingredients of the Huang'e Capsule.Conclusions:Huang'e Capsule is mainly used to treat CP by modulating the disease targets such as ESR1, CDK1, APP, SYK, and EGFR of PI3K/Akt, HIF-1 and other signaling pathways, interfering with enzyme activity, inflammatory reactions, and other biological processes.

Objective:To explore the application of pyrophosphorolysis-activated polymerization(PAP)to monitor plasma cfDNA in ad-vanced non-small cell lung cancer(NSCLC).Methods:A total of 85 patients diagnosed with advanced NSCLC between March 2016 and June 2017 were enrolled in the present study. EGFR mutations in cfDNA extracted from the plasma were detected using PAP and ARMS-PCR technology.The concordance analysis of EGFR mutations involved plasma vs.tumor tissue and PAP vs.ARMS-PCR.Further-more,38 EGFR-positive patients were selected to monitor EGFR mutations with PAP.Results:No statistical differences in EGFR muta-tions were observed between plasma and tumor tissue(P=0.092),as well as PAP and ARMS-PCR(P=0.210).The detection rate of EGFR mutations in cfDNA was higher in the progressor than in the non-progressor(62.5% vs.21.3%,P<0.001).Conclusions:PAP can be used for detecting and monitoring EGFR mutations in cfDNA to predict disease progression.