Objective: To explore the clinical characteristics and diagnosis and treatment plans of neurofibromatosis type 1 (NF1), and to provide references for clinical diagnosis and treatment. Methods : The clinical manifestations and treatment of an 8-year-old female patient with NF1 was reported. A literature review was conducted to summarize the clinical characteristics and therapeutic strategies of NF1. Multiple NF1s occurred on the right cheek, orbit, and eyelid, and recurred after surgical resection. The tumor caused ptosis, incomplete closure, and vision loss in the upper eyelid of the right eye. After a multidisciplinary assessment determined that radical resection was not feasible, selumetinib sulfate targeted therapy was adopted (25 mg, Po, bid), 28 days constitute one treatment course, and 14 courses have been completed, combined with symptomatic ocular treatments, such as Befusu. Result: The follow-up showed that the tumor volume did not continue to increase (stable disease), the uncorrected vision of the right eye improved (0.05 vs 0.1), and no drug-related adverse reactions occurred during the treatment period. The literature review summarizes the diverse clinical manifestations of NF1, with café-au-lait macules, multiple neurofibromas, and Lisch nodules being hallmark features. Currently, surgical intervention remains the most commonly employed and primary therapeutic approach for NF1; however, for patients who do not meet the criteria for surgery, alternative treatment strategies should be considered. MEK inhibitors, such as selumetinib, demonstrate significant efficacy in inhibiting the growth of NF1-associated plexiform neurofibromas, with tumor volume reductions of at least 20% observed in 70% of pediatric patients in the SPRINT clinical trial. Furthermore, these inhibitors exhibit favorable long-term safety profiles. Conclusion Café-au-lait macules, multiple neurofibromas, and Lisch nodules are hallmark features of NF1. Selumetinib is safe and effective for NF1 in the head and neck of children, and it is the preferred treatment option for patients who are not suitable for surgery. Long-term follow-up monitoring of tumor changes and drug safety is required.

Objective To investigate the effect of dioscin on uric acid(UA)-induced oxidative stress injury of human renal tubular epithelial cells(HK-2)and its molecular mechanism.Methods HK-2 cells were cultured and divided into four groups:blank group(normal group),model group(uric acid-stimulation modeling),condition control group(UA+DMSO)and dioscin group(UA+dioscin).Oxidative stress injury model was induced by UA in HK-2 cells.Cells viability was detected by CCK-8.ROS level was detected by flow cytometry.Real-time PCR was used to detect the expressions of glycogen synthase kinase 3β(GSK3β),nuclear factor erythroid 2-related factor 2(Nrf2)and heme oxygenase 1(HO-1)at mRNA level,and Western Blot was used to detect the expressions of phosphorylated glycogen synthesis kinase 3β(p-GSK3β),GSK3β,Nrf2 and HO-1 at protein level.Results After stimulation by UA,HK-2 cells viability was obviously decreased,and ROS level was significantly increased(all P＜0.001).When treated with dioscin,HK-2 cells viability was obviously increased,and the ROS level of HK-2 cells was significantly decreased(all P＜0.001).The expressions of Nrf2 and HO-1 decreased at the protein and mRNA levels after stimulation with UA.But the expressions of Nrf2 and HO-1 significantly increased after treated with dioscin(all P＜0.001).Compared with the blank group,the p-GSK3β/GSK3β ratio in the model group decreased significantly at the protein level,but the p-GSK3β/GSK3β ratio increased after treated with dioscin(all P＜0.001).Conclusion Dioscin can alleviate UA-induced oxidative stress injury in HK-2 cells.The mechanism might be that dioscin can promote phosphorylation of GSK3β,and activate Nrf2/HO-1 pathway.

Background::Exercise, as the cornerstone of pulmonary rehabilitation, is recommended to chronic obstructive pulmonary disease (COPD) patients. The underlying molecular basis and metabolic process were not fully elucidated.Methods::Sprague-Dawley rats were classified into five groups: non-COPD/rest ( n = 8), non-COPD/exercise ( n = 7), COPD/rest ( n = 7), COPD/medium exercise ( n = 10), and COPD/intensive exercise ( n = 10). COPD animals were exposed to cigarette smoke and lipopolysaccharide instillation for 90 days, while the non-COPD control animals were exposed to room air. Non-COPD/exercise and COPD/medium exercise animals were trained on a treadmill at a decline of 5° and a speed of 15 m/min while animals in the COPD/intensive exercise group were trained at a decline of 5° and a speed of 18 m/min. After eight weeks of exercise/rest, we used ultrasonography, immunohistochemistry, transmission electron microscopy, oxidative capacity of mitochondria, airflow-assisted desorption electrospray ionization-mass spectrometry imaging (AFADESI-MSI), and transcriptomics analyses to assess rectal femoris (RF). Results::At the end of 90 days, COPD rats’ weight gain was smaller than control by 59.48 ± 15.33 g ( P = 0.0005). The oxidative muscle fibers proportion was lower ( P < 0.0001). At the end of additional eight weeks of exercise/rest, compared to COPD/rest, COPD/medium exercise group showed advantages in weight gain, femoral artery peak flow velocity (Δ58.22 mm/s, 95% CI: 13.85-102.60 mm/s, P = 0.0104), RF diameters (Δ0.16 mm, 95% CI: 0.04-0.28 mm, P = 0.0093), myofibrils diameter (Δ0.06 μm, 95% CI: 0.02-0.10 μm, P = 0.006), oxidative muscle fiber percentage (Δ4.84%, 95% CI: 0.15-9.53%, P = 0.0434), mitochondria oxidative phosphorylate capacity ( P < 0.0001). Biomolecules spatial distribution in situ and bioinformatic analyses of transcriptomics suggested COPD-related alteration in metabolites and gene expression, which can be impacted by exercise. Conclusion::COPD rat model had multi-level structure and function impairment, which can be mitigated by exercise.

Objective:To preliminarily evaluate the safety and efficacy of shunt-related interventional therapy accompanied with spontaneous portosystemic shunts (SPSS) in patients with hepatic encephalopathy (HE).Methods:Case data on six patients who underwent interventional therapy accompanied by SPSS for HE from January 2017 to March 2021 were collected to evaluate the efficacy and postoperative complications.Results:All six patients underwent SPSS. Four patients had hepatitis B cirrhosis; one had alcoholic cirrhosis; and one had hepatic arterioportal fistula-induced portal hypertension. Child-Pugh liver function scores were C and B in three and three cases, respectively. The SPSS type was gastrorenal shunt in two cases; portal-thoracic-azygos venous in two cases; portal-umbilical-iliac venous in one case; and portal-splenic venous - inferior vena cava in one case. Two of them had previously had a transjugular intrahepatic portosystemic shunt (TIPS), and there were SPSS prior to TIPS. Five cases (5/6) successfully underwent shunt embolization, and one case (1/6) underwent stent implantation for flow restriction (portal-umbilical-iliac vein). The technical success rate was 100%. HE did not recur during hospitalization or the three-month follow-up period. However, one case had a recurrence of HE within a year after surgery and was treated symptomatically, while another experienced gastrointestinal bleeding a year after surgery..Conclusion:SPSS embolization or flow restriction is effective and safe for improving HE patients' symptoms.

Objective:To analyze the laboratory detection methods and clinical characteristics of patients with 2019-nCoV Omicron variant infection, to realize the rapid identification and diagnosis of 2019-nCoV Omicron variants.Methods:Totally 80 overseas patients in First Hospital of Changsha from December 16 in 2021 to January 5 in 2022 were selected, the nucleic acids and mutant genes were detected by fluorescent PCR and genome sequencing, and the clinical characteristics of patients with 2019-nCoV Omicron variant infection were analyzed.Results:The specificity was 100% (58/58) and positive predictive value was 100% (21/21) respectively, the sensitivity was 95.5% (21/22), negative predictive value was 98.3% (58/59) by detected with fluorescent PCR. It was found that there were 45-50 nucleotide displacement sites in the genome and 25-30 amino acid mutation sites in S gene fragment by genome sequencing. Clinical analysis showed that mild cases were 59.1% (13/22) in layouts, without severe and critical cases. Ages were positively associated with the clinical classification (ρ=0.698, P<0.001), foundation infections were positively associated with the clinical classification (ρ=0.636, P<0.001). Conclusions:Patients with 2019-nCoV Omicron variant infection had a high viral load and long negative conversion time of nucleic acid. Ages and foundation infections were positively associated with the clinical classification. AST/ALT was higher in the early stage of the disease. Fluorescent PCR method can be used in rapid screening patients with 2019-nCoV Omicron variant infection.

Objective:To explore the clinical feasibility and application method of speckle-tracking echocardiography (STE) in assessing left ventricular longitudinal strain in infants.Methods:One hundred and ten infants within one week of birth were randomly selected in the Third Affiliated Hospital of Guangzhou Medical University from June 2019 to February 2020, and the basic data were collected. STE was performed by two physicians with more than 5 years′ experience.Images of the same infant were analyzed by physicians with 5 years′ experience and 2 years′ experience, respectively, and the difference and correlation of the results between the two doctors were analyzed. The images of the same infant were analyzed twice by the doctor with 5 years′ experience, and the differences and correlations between the results were analyzed. The infants were divided into different groups according to weight to compare the correlations between inter-physicians and intra-physician. STE analysis indicators included global left ventricular longitudinal peak strain (Glps-avg), four-chamber left ventricular longitudinal strain (Glps-A4C), three-chamber left ventricular longitudinal strain (Glps-A3C), two-chamber left ventricular longitudinal strain(Glps-A2C), left ventricular anterior wall longitudinal strain (Glps-a), anterior interventricular septum longitudinal strain(Glps-ais), posterior interventricular septum longitudinal strain (Glps-pis), inferior wall of left ventricle longitudinal strain (Glps-i), posterior wall of left ventricle longitudinal strain (Glps-p), lateral wall of left ventricle longitudinal strain (Glps-l), left ventricular basal section longitudinal strain (Glps-bs), left ventricular middle section longitudinal strain (Glps-ms) and left ventricular apex section longitudinal strain (Glps-as), a total of 13 indicators. The differences were analyzed by paired t test, and the correlations were determined by intra-group correlation coefficient (ICC). Results:According to the inclusion and exclusion criteria, 95 patients were included. For the 13 STE indicators, inter-physicians comparison: the differences between the two physicians were statistically significant (all P<0.05) except for Glps-pis, and the ICC were 0.38-0.72 (all P<0.01). Intra-physician comparison: the differences of these indicators between two measurements were not statistically significant (all P>0.05) except for Glps-ais and Glps-I, ICC were 0.31-0.76 (all P<0.05). Among them, inter-physicians and Intra-physician ICC of Glps-avg, Glps-bs, Glps-ms were 0.68/0.75, 0.72/0.66 and 0.65/0.76 respectively. The group comparison by infants′ weight showed that: In very low weight infants group, the ICC of inter-physicians and intra-physician ranged 0.82-0.93(all P<0.05) and 0.80-0.95(all P<0.05). In low weight infants group, the ICC of inter-physicians and intra-physician ranged 0.65-0.94 (all P<0.05) and 0.69-0.93 (all P<0.01). In the normal weight infants group, ICC of inter-physicians ranged 0.06-0.68, with statistical significance except for Glps-A3C (all P<0.05); ICC of intra-physician ranged 0.36-0.59 (all P<0.05). In overweight infants group, there was no statistical significance in ICC of inter-physicians (all P>0.05), the ICC of intra-physician, Glps-bs and Glps-ms groups were 0.63 and 0.77 (all P<0.05), with no statistical significance in other indicators (all P>0.05). Conclusions:Left ventricular longitudinal strain by STE in infants has better repeatability, and the consistency of intra-physician is higher than inter-physicians, among which the Glps-avg consistency is the best, followed by Glps-bs and Glps-ms. STE is more reproducible in low and very low weight infants than in normal and overweight infants.

Oropharyngeal carcinoma is a highly heterogeneous disease that is mainly caused by tobacco and alcohol abuse or high-risk human papillomavirus (HPV) infection. HPV-positive oropharyngeal carcinoma and HPV-negative oropharyngeal carcinoma have obvious differences in etiology, epidemiology and prognosis; therefore, different methods should be adopted for treatment. It is known that the TP53 gene is not mutated in HPV-positive oropharyngeal carcinoma, and radiation therapy can activate it and induce cell apoptosis via DNA damage. There are common repair pathways to DNA damage, such as nonhomologous end joining, and this pathway is more sensitive to radiotherapy under the inhibition of HPV oncoprotein. In addition, the further activation of the immune response under the effect of radiation also participates in the elimination of tumors. In this paper, we reviewed the research on the sensitivity of HPV-positive oropharyngeal cancer to radiotherapy to provide a scientific basis for targeted treatment for various pathogenic factors and clinical stages of oropharyngeal cancer in the future.

Objective:To comprehensively verify the diagnostic accuracy and clinical adaptability of A2DS2 scale in predicting the occurrence of stroke-associated pneumonia in China using Meta-analysis.Methods:Relevant literature about stroke-associated pneumonia in China were selected from Medline, PubMed, Embase, Cochrane Library, Web of Science, Wanfang Data Knowledge Service Platform, VIP Paper Check System, and China National Knowledge Infrastructure (CNKI), and China Biological Database from database construction to February 2020. Tool for Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) was used to evaluate the quality of the literature. Deek funnel plot was used to evaluate literature publication bias. Fagen plot was used to evaluate the clinical applicability of A2DS2 scale.Results:Twelve articles were finally included with a total of 7719 patients. Bivariate mixed effects analysis was used to obtain results with diagnostic odds ratio (DOR) of 18 ( 95%CI=12-27), pooled sensitivity of 0.76 ( 95%CI=0.68-0.82), pooled specificity of 0.85 ( 95%CI=0.80-0.88), pooled positive likelihood ratio of 5.02 ( 95%CI=3.91-6.44), pooled negative likelihood ratio of 0.29 ( 95%CI=0.22-0.38), and integrated area under the receiver operating curve (AUC) of 0.88 ( 95%CI=0.85-0.91). Combined with the funnel plot results, there was no significant publication bias in the overall study ( P=0.07); and the paradigm plot showed that when the A2DS2 diagnosis was positive, the probability of subjects being diagnosed with stroke-associated pneumonia increased to 83%, suggesting that A2DS2 scale had good applicability and high clinical diagnostic value. Conclusion:A2DS2 scale has good predictive value in stroke-associated pneumonia in Chinese and can be used for clinical preliminary screening of patients with stroke-associated pneumonia.

Objective:To investigate the clinical effect of free fibula flap transplantation in repairing the defect of mandibular osteoradionecrosis (ORN).Methods:A total of 151 mandibular ORN patients undergoing free fibular flap transplantation were selected from August 2005 to September 2020 in the Department of Oral and Maxillofacial Surgery, Sun Yat-sen Memorial Hospital, Sun Yat-sen University. Among them, 109 patients were males and 42 patients were females, aged (54.1±10.1) (ranged 31-85) years old. The clinical data of the patients was collected and the survival rate of the flaps and postoperative function were calculated to evaluate the surgical efficacy. The χ 2 test was used for difference analysis. Results:Among the 151 patients, mandibular ORN caused by radiotherapy for nasopharyngeal carcinoma accounted for 79.5% (120/151). The average time for mandibular ORN appeared was 5(6) years after radiotherapy. Facial artery [57.2%(87/152)] and superior thyroid artery [32.9%(50/152)] were the main anastomotic arteries in the recipient area. There was no significant difference in the necrosis rates of the two flaps [10.3%(9/87) and 12.5% (5/50), respectively, P=0.949]. The main anastomotic veins in the recipient area were the external jugular vein [48.4%(135/279)] and the common facial vein [26.5%(74/279)]. Twenty-five cases (16.6%) had one vein anastomosed, and 126 cases (83.44%) had two veins anastomosed. There was no significant difference in the flap necrosis rate between the two conditions [20.0%(5/25) and 7.1%(9/126), respectively, P=0.100]. Ninety-seven cases (64.2%) used the peroneal musculocutaneous-fascia composite flap to repair the maxillofacial soft and hard tissue defects. Thirteen cases (8.6%) underwent the restorations with digital virtual surgery design, of which 5 cases were repaired with dental implants at the same time. After the operations, lower respiratory tract infection occurred in 17 patients (11.3%), and upper respiratory tract obstruction occurred in 3 cases (2.0%). The survival rate of the flap after operation was 90.7% (136/151), and 21 patients (13.9%) had flap vascular crisis. Delayed healing of maxillofacial wounds occurred in 33 cases (21.9%). After 3 to 24 months of follow-ups, 110 patients (76.9%) had no fistula inside/outside the oral cavity, 118 patients (82.5%) had an improvement in opening mouth of increasing (≥0.5 cm) after surgery, 135 patients (94.4%) had pain relief, 97 cases (67.8%) could eat normal diet, semi-liquid or soft food, and 137 cases (95.8%) were satisfied or basically satisfied with the treatment effects. Conclusions:The free fibular flap transplantation is an effective method to repair mandibular ORN defects. Preoperative vascular assessment is helpful for the selection of recipient vessels. Facial artery, superior thyroid artery, external jugular vein and common facial vein can be used as the main recipient vessels. The repair of the peroneal musculocutaneous-fascia composite flap facilitates the closure of internal and external fistulas. Digital technology can help to restore the maxillofacial shape more accurately, improve the patient′s occlusal and chewing function and enhance the quality of life of mandibular ORN patients.