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Objective:To investigate the sex differences in severe traumatic death patients of different ages.Methods:A total of 408 patients with severe trauma who received treatment in The Second Affiliated Hospital of Zhejiang University School of Medicine and Taizhou First People's Hospital from June 2017 to June 2022 were retrospectively analyzed. These patients were divided into the children group (≤ 14 years old, n = 47), the adult group (14-50 years old, n = 171), and the older adult group (> 50 years old, n = 90). Multivariate logistic regression was used to evaluate the difference in sex-based mortality among the groups. Nonlinear regression was used to evaluate the mutual interaction of increasing age and sex on the predicted survival rate. Results:Traffic accidents were the most common cause of death among men in the adult group (58.93%, χ2 = 7.95, P = 0.027). Falls were the most common cause of death among men in the older adult group (57.36%, χ2 = 8.63, P = 0.001). The Injury Severity Score of women in the adult and older adult groups was significantly higher in women than that of men in the same group [adult group: men: (24.39 ± 4.17) points, women: (26.32 ± 4.31) points, t = 2.84, P = 0.005). The incidence of post-traumatic complications in the older adult group was very higher in men than in women (respiratory failure: 28.68% in men, 14.75% in women, χ2 = 4.37, P = 0.036; circulatory failure: men: 27.13%, women: 13.11%, χ2 = 4.64, P=0.031; neuropsychiatric disorders: men: 20.93%, women: 8.20%, χ2 = 4.79, P = 0.029; respiratory infection: men: 31.78%, women: 18.03%, χ2 = 5.55, P = 0.047; other infectious diseases: men: 28.68%, women: 13.11%, χ2 = 0.69, P = 0.018). After adjusting for covariates, the mortality rate of men in the older adult group was significantly higher than that of women in the same group ( OR: 1.261, 95% CI: 1.185-1.343, P < 0.001). With the increase of age, the predicted survival rate after the trauma in patients of different sexes also decreased, in particular in men aged > 50 years (interaction P = 0.051). Among patients with blunt and severe head trauma, age-related mortality decline in patients aged > 50 years had a strong interaction with sex (interaction P = 0.002). In patients with penetrating trauma, there was a weak interaction between the predicted survival rate of different sexes (interaction P = 0.192). Conclusion:There is no significant difference in age-related change in post-traumatic mortality between different sexes. In the population aged > 50 years, men have a relatively higher risk of death than women.
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This paper reports a case of a patient aged 63 years who developed a delayed pneumothorax after thoracic paravertebral block (TPVB). TPVB is a non-invasive procedure that is known to be relatively safe. A 63-year-old female was admitted with back pain. TPVB T9–10 left was then performed. Two days after the procedure, she complained of dyspnea in the emergency room. X-ray showed a pneumothorax in her left side with partial left lung collapse. The pneumothorax was managed by surgical intervention, and an intercostal tube was inserted. The post-procedural X-ray showed a fully expanded lung. A chest tube was taken out after 72 hours. A delayed pneumothorax can occur after TPVB. Therefore, careful observation is required after this procedure.
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Objective@#The aim of this study was to investigate the association between the use of statins and the occurrence of delirium in a large cohort of patients in the intensive care unit (ICU), considering disease severity and statin properties. @*Methods@#We obtained clinical and demographical information from 3,604 patients admitted to the ICU from January 2013 to April 2020. This included information on daily statin use and delirium state, as assessed by the Confusion Assessment Method for ICU. We used inverse probability of treatment weighting and categorized the patients into four groups based on the Acute Physiology and Chronic Health Evaluation II score (group 1: 0−10 - mild; group 2: 11−20 -mild to moderate; group 3: 21−30 - moderate to severe; group 4: ＞ 30 - severe). We analyzed the association between the use of statin and the occurrence of delirium in each group, while taking into account the properties of statins. @*Results@#Comparisons between statin and non-statin patient groups revealed that only in group 2, patients who were administered statin showed significantly higher occurrence of delirium (p = 0.004, odds ratio [OR] = 1.58) compared to the patients who did not receive statin. Regardless of whether statins were lipophilic (p = 0.036, OR = 1.47) or hydrophilic (p = 0.032, OR = 1.84), the occurrence of delirium was higher only in patients from group 2. @*Conclusion@#The use of statins may be associated with the increases in the risk of delirium occurrence in patients with mild to moderate disease severity, irrespective of statin properties.
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OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with hereditary spastic paraplegia type 30 (HSP30).@*METHODS@#A proband presented at the Second Hospital of Shanxi Medical University in August 2021 was selected as the study subject. The proband was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband was found to have harbored a heterozygous c.110T>C variant in exon 3 of the KIF1A gene, which can cause substitution of isoleucine by threonine at position 37 (p.I37T) and alter the function of its protein product. The same variant was not found in his parents, elder brother and elder sister, suggesting that it has a de novo origin. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PM2_Supporting+PP3+PS2).@*CONCLUSION@#The c.110T>C variant of the KIF1A gene probably underlay the HSP30 in the proband. Above finding has enable genetic counseling for this family.
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Humans , Male , Female , East Asian People , Kinesins/genetics , Mutation , Pedigree , Spastic Paraplegia, Hereditary/geneticsABSTRACT
Objective:To investigate the value of hypocalcaemia for predicting trauma-induced coagulopathy (TIC) in elderly trauma patients.Methods:The clinical data of elderly trauma patients in emergency ICU of the Second Affiliated Hospital of Zhejiang University School of Medicine from January 2015 to September 2020 were retrospectively analyzed, including age, sex, site of injury, injury severity score (ISS), Glasgow coma scale (GCS), admission arterial blood gas analysis (Ca 2+, K +), venous blood biochemical electrolyte (Ca 2+, K +, Na +); international normalized ratio (INR), activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (FIB), use of blood products, length of stay, length of stay in ICU, total cost, and clinical prognosis. Receiver operating characteristic (ROC) curves and multivariate logistic regression analysis were performed to estimate the contribution of hypocalcaemia to triggering TIC in elderly trauma patients. Results:Totally 371 elderly trauma patients were included with a mean age of (72.5±6.8) years, and 248 (66.8%) were male. ISS score of the TIC group was higher than that of the non-TIC group [25(20, 34) vs. 21(16, 29)]. Compared with the non-TIC group, the incidence of chest injury, abdominal injury and limb injury were significantly higher , while the incidence of head and neck injury were significantly lower in the TIC group (all P<0.05). The biochemical blood calcium in the TIC group was significantly lower than that in the non-TIC group [(1.97±0.19) mmol/L vs. (2.15±0.16) mmol/L, P<0.001], but there was no significant difference in blood gas calcium between the two groups. The APTT value of the TIC group [(47.6±21.8) s vs. (33.8±4.1) s], PT value [(18.0±3.9) s vs. (13.7±0.8) s] were significantly higher than that of the non-TIC group, and FIB level was significantly lower than that of the non-TIC group[(1.7±0.8) g/L vs. (2.8±0.9) g/L] (all P<0.01). The utilization rate of blood products and the total cost in the TIC group were higher than that in the non-TIC group, while the recovery rate in the TIC group was lower than that in the non-TIC group (69.8% vs. 86.4%, P<0.001). Multivariate logistic regression analysis showed that hypocalcaemia was an independent risk factor for TIC in elderly trauma patients ( OR=5.830, 95% CI: 3.295-10.314). The area under ROC curve of correlation between biochemical calcium and TIC was 0.779 (95% CI: 0.728-0.831). The optimal diagnostic cut-off value was 2.06 mmol/L. Conclusions:The decrease of biochemical serum calcium level is an independent risk factor for TIC in elderly trauma patients. Positive correction of TIC in elderly trauma patients contributes to continuous improvement of clinical prognosis.
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Objective:To analyze the epidemiological characteristics and influencing factors of venous thrombosis in elderly patients with severe trauma.Methods:A retrospective study was conducted to collect and statistically analyze general information[sex, age, body mass index(BMI)], causes of trauma, injury severity score(ISS), Glasgow coma score(GCS), coagulation function[prothrombin time(PT), international normalized ratio(INR), D-dimer], B-type natriuretic peptide(BNP), liver function(alanine aminotransferase, aspartate aminotransferase), creatinine, Caprini score, surgical approach, immobilization mode, days of hospitalization, and treatment cost.Results:Totally 179 elderly patients with severe trauma were enrolled, including 130 men(72.6%), aged(67.6±6.4)years.The BMI, ISS and GCS scores of elderly patients with severe trauma were(22.9±3.4)kg/m 2, 28.4±10.5 and 10.2±4.6, respectively.The Caprini score was 11.7±4.0.Of these patients, 32(17.9%)had VTE events.Compared with the VTE negative group, the VTE positive group was older( t=-2.214, P=0.028), with a higher Caprini score( t=-2.684, P=0.008)and more lower limb fractures( P=0.008)and pelvic fractures( P=0.001). There were no significant differences in coagulation function, liver function, atrial natriuretic peptide levels, creatinine levels and surgical approaches between the VTE negative group and the VTE positive group(all P<0.05). No significant difference was found in the proportion of patients receiving surgical treatment between the two groups( P=0.563). In the VTE positive group, 18.8% had no fracture, 50.0% had one fracture, and 31.2% had two or more fractures, and the difference was statistically significant compared with the VTE negative group( P=0.029). However, VTE events had no significant effect on the average length of stay and hospitalization costs in elderly trauma patients(all P<0.05). Conclusions:For elderly patients with severe trauma, VTE is more likely to occur with increased age, a high Caprini score, multiple fracture sites and pelvic fracture.In addition, pelvic fracture is an independent risk factor for VTE in very old trauma patients.Attention should be paid to prevention and treatment to achieve steady improvement in the overall prognosis of trauma in these patients.
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Careful evaluation of vertebral artery injuries is important after cervical translation injuries or transverse foramen fractures. Treatment of trauma can be complicated in cases of concomitant vertebral artery injuries. A 76-year-old woman was admitted to our hospital with left hemiparesis (Motor grade 3) after a motorcycle accident. Cervical spine magnetic resonance imaging (MRI) and computed tomography (CT) revealed a C3 burst fracture and a left C3 lateral mass and lamina fracture. CT angiography revealed fracture fragments that predisposed the vertebral artery to injury throughout its course in the area. CT angiography confirmed that both vertebral arteries were occluded at the C3 fracture site. Subsequent brain MRI revealed acute infarction in the right occipital area. Although both vertebral arteries were occluded, the infarction site did not correspond to the territory supplied by these vessels; therefore, we performed transfemoral cerebral angiography, which revealed collateralization of the bilateral vertebral arteries by the deep cervical artery.. The deep cervical arteries are located between the posterior muscles; therefore, a fixation operation performed using the posterior approach may have affected the collateral circulation and led to exacerbation of the infarction site. Therefore, surgery was performed using an anterior approach and it was possible to minimize the risk of cerebral infarction through preservation of collateral circulation.
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Surgery using a nerve block began in the 19th century. Since then, various anesthesia and block methods have been developed for upperextremity surgery. Many tools and techniques are being developed to increase the success rate and reduce the side effects from the nerve block. Recently, a nerve stimulator or an ultrasound device was used for a nerve block. The author review and describe various approaches and techniques using ultrasound as a block for upper extremity surgery.
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Purpose@#This study examined the effectiveness of tranexamic acid in reducing postoperative blood loss in total knee arthroplasty by comparing the methods of administration between an intravenous group, topical group, and non-tranexamic acid group. @*Materials and Methods@#This was a retrospective case series study of patients who underwent primary total knee arthroplasty from March 2017 to February 2019 performed by a single surgeon. The study population was divided into three groups according to the method of tranexamic acid administration (Group I: intravenous group, Group II: topical group, Group III: non-tranexamic acid group). To evaluate the effectiveness of tranexamic acids, the total amount of postoperative blood loss, postoperative hemoglobin loss, and volume of red blood cell transfusion in the three groups were compared. @*Results@#The total amount of postoperative blood loss was lower in the tranexamic acid administered group than in the non-tranexamic acid group (1,366±866 ml). Among the administration methods, the intravenous group (987±449 ml) was significantly lower than the topical group (1,136±339 ml) (p=0.004). Postoperative hemoglobin loss was lower in the tranexamic acid group than the non-tranexamic acid group.Among the administration methods, the intravenous group was lower than the topical group. The transfusion rate was higher in the nontranexamic acid group (5.7%) than the tranexamic administered group. The transfusion rate of the intravenous group was 1.4%, and no patient required a transfusion postoperatively in the topical group. The number of postoperative thromboembolic events, as a complication of tranexamic acid, was similar in the three groups. @*Conclusion@#Tranexamic acid was effective in reducing postoperative blood loss after primary total knee arthroplasty compared to the nontranexamic acid administered group. No significant difference in the complications induced by tranexamic acid was observed among the three groups.
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Purpose@#Increasing attention has been paid to low-intensity transcranial focused ultrasound (tFUS) for its potential therapeutic effects in Alzheimer's disease (AD). While preclinical studies have shown promising therapeutic effects of low-intensity tFUS in AD models, its efficacy and safety remain unclear in humans. In this pilot study, we investigated the effects of low-intensity tFUS on blood-brain barrier opening, the regional cerebral metabolic rate of glucose (rCMRglu), and cognition in patients with AD. @*Methods@#After receiving institutional review board approval, four patients with AD received tFUS to the hippocampus immediately after an intravenous injection of a microbubble ultrasound contrast agent. Sonication was delivered at low-intensity, at a pressure level below the threshold for blood-brain barrier opening. Patients underwent brain magnetic resonance imaging, 18F-fluoro-2-deoxyglucose positron emission tomography, and neuropsychological assessments before and after the tFUS procedure. A whole-brain voxel-wise paired t test was conducted to compare rCMRglu before and after tFUS. @*Results@#The sonication, as anticipated, did not show evidence of active blood-brain barrier opening on T1 dynamic contrast-enhanced magnetic resonance imaging. rCMRglu in the superior frontal gyrus (P<0.001), middle cingulate gyrus (P<0.001), and fusiform gyrus increased after tFUS (P=0.001). Patients demonstrated mild improvement in measures of memory, executive, and global cognitive function following tFUS. No adverse events were reported. @*Conclusion@#These results suggest that hippocampal sonication with low-intensity tFUS may have beneficial effects on cerebral glucose metabolism and cognitive function in patients with AD. Further larger studies are needed to confirm the therapeutic efficacy of tFUS in AD.
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Objective@#Anterior cervical corpectomy using a titanium mesh cage may result in delayed nonunion and thus a change in cervical alignment, and patients may require revision surgery.We investigated the radiologic and clinical outcomes of cervical corpectomy and the risk factors for subsidence. @*Methods@#We studied 74 patients who underwent single-level anterior cervical corpectomy for cervical spondylotic myelopathy with or without ossification of the posterior longitudinal ligament between 2007 and 2014. Graft subsidence was considered present when there was a reduction in the anterior and posterior heights by an average of 4 mm or more 2 years after the operation. We measured cervical parameters before surgery, immediately after surgery, and 6, 12, and 24 months after surgery. The clinical outcomes were the neck and arm visual analog scale scores and reoperation rate. @*Results@#In the subsidence group, these values gradually decreased over the 24 months. The radiologic parameters did not differ between the 2 groups for 24 months after the onset of subsidence. There were no differences in clinical outcome or reoperation rate. In the analysis of the risk factors, subsidence occurred with a large T1 slope and a large change in the C27 Cobb angle (p=0.020 andp=0.026, respectively). @*Conclusion@#Subsidence gradually occurred after single-level anterior cervical corpectomy for up to 24 months. However, the presence of subsidence did not affect the radiologic and clinical outcomes. When the T1 slope was large and the C27 Cobb angle change was severe, more subsidence occurred.
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Iatrogenic vertebral artery injury (VAI) that occurs during cervical spine surgery can cause life-threatening complications, such as arteriovenous fistulas, catastrophic bleeding, neurological impairment, cerebral ischemia, and death. We report a case of dominant VAI during surgery and the treatment of a 60-year-old man diagnosed with a C1-2-3 metastatic spine tumor from urothelial carcinoma. Active bleeding occurred during tumor resection using pituitary forceps, immediately followed by gauze packing and manual compression.Post further resection, we found that the vertebral artery (VA) was completely severed.After temporary clamping on both sides of the damaged VA, an artificial graft anastomosis was performed. After verifying that the flow was intact using Doppler Sonography, Occiput-C1-4-5-6 posterolateral fusion was performed. Angiography was performed immediately after surgery. We found a thrombus occluding the left VA, and performed mechanical thrombectomy and stent insertion. The final angiography showed good VA flow with no emboli. In this case, VA anastomosis and endovascular treatment were performed within a relatively short period of time post VAI, and the patient was able to recover without any neurological deficits.
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Purpose@#The aim of this study was to evaluate biological ligament healing quantitatively after suture-tape augmentation for chronic lateral ankle instability. @*Materials and Methods@#Thirty-two patients underwent magnetic resonance imaging (MRI) at a minimum of 2 years after lateral ligament augmentation using suture-tape. Signaloise ratios (SNRs) and widths of anterior talofibular ligaments (ATFLs) were measured on preoperative and postoperative MRI by three researchers. ATFL biological healing degrees were analyzed using changes in SNRs and widths of ATFLs and by comparing these metrics with those of normal contralateral ankles. Clinical evaluations were performed using foot and ankle outcome scores (FAOSs), Foot and Ankle Ability Measure (FAAM) scores, and ankle stress radiographs. @*Results@#Mean FAOS and FAAM scores improved significantly from 62.4 to 93.6 and 58.3 to 92.3, respectively, at final follow-up (p<0.001). Mean SNRs and ATFL widths improved insignificantly from 8.49 to 8.21 and 2.07 to 2.15 mm, respectively, at final followup (p=0.424, p=0.718). Significant differences in mean SNRs and ATFL widths were found between ipsilateral and contralateral sides (p<0.001, p=0.002). Spearman’s correlation analysis revealed no significant association between clinical outcomes and degrees of biological healing of ATFLs based on MRI findings. @*Conclusion@#Despite improvements in clinical outcome measures, the effects of suture-tape augmentation for chronic lateral ankle instability on biological ligament healing were insignificant. In addition, no significant correlation was found between clinical outcomes and degrees of biological healing of ATFLs.
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Purpose@#The aim of this study was to evaluate biological ligament healing quantitatively after suture-tape augmentation for chronic lateral ankle instability. @*Materials and Methods@#Thirty-two patients underwent magnetic resonance imaging (MRI) at a minimum of 2 years after lateral ligament augmentation using suture-tape. Signaloise ratios (SNRs) and widths of anterior talofibular ligaments (ATFLs) were measured on preoperative and postoperative MRI by three researchers. ATFL biological healing degrees were analyzed using changes in SNRs and widths of ATFLs and by comparing these metrics with those of normal contralateral ankles. Clinical evaluations were performed using foot and ankle outcome scores (FAOSs), Foot and Ankle Ability Measure (FAAM) scores, and ankle stress radiographs. @*Results@#Mean FAOS and FAAM scores improved significantly from 62.4 to 93.6 and 58.3 to 92.3, respectively, at final follow-up (p<0.001). Mean SNRs and ATFL widths improved insignificantly from 8.49 to 8.21 and 2.07 to 2.15 mm, respectively, at final followup (p=0.424, p=0.718). Significant differences in mean SNRs and ATFL widths were found between ipsilateral and contralateral sides (p<0.001, p=0.002). Spearman’s correlation analysis revealed no significant association between clinical outcomes and degrees of biological healing of ATFLs based on MRI findings. @*Conclusion@#Despite improvements in clinical outcome measures, the effects of suture-tape augmentation for chronic lateral ankle instability on biological ligament healing were insignificant. In addition, no significant correlation was found between clinical outcomes and degrees of biological healing of ATFLs.
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@#Objective To compare and analyze the treatment effect of thoracoscopic surgery and traditional open surgery on infants with congenital diaphragmatic eventration, and summarize the experience of thoracoscopic surgery in infants with congenital diaphragmatic eventration. Methods We retrospectively analyzed the clinical data of 105 children with congenital diaphragmatic eventration who received operation in the Department of Cardiothoracic Surgery of Children’s Hospital of Chongqing Medical University from January 2010 to January 2019. The patients were divided into an open group and a thoracoscopic group according to the operation methods. There were 41 patients in the thoracoscopic group, including 30 males and 11 females, with an average of 13.42±11.08 months (range: 1 d to 3 years). There were 64 patients in the open group, including 44 males and 20 females, with an average age of 8.21±9.33 months (range: 15.0 d to 1.6 years). The operation time, intraoperative bleeding volume, postoperative mechanical ventilation time, hospital stay and other operation indexes as well as the mortality, recurrence rate and complication rate of the two groups were observed. Results The operation indexes such as operation time, intraoperative bleeding volume, postoperative mechanical ventilation time, thoracic drainage time, CCU stay and hospital stay of the thoracoscopic group were better than those in the open group (P<0.05). There was no statistical difference between two groups in postoperative diaphgram muscles descent, postoperative feeding time or patients needing thoracic drainage (P>0.05). The incidence of postoperative complications in the thoracoscopic group (19.51%) was lower than that in the open group (23.44%, P>0.05), and the difference in mortality and recurrence rate between the two groups was not statistically significant (P>0.05). Conclusion Both thoracoscopic diaphragmatic plication and traditional open surgery can effectively treat congenital diaphragmatic eventration, but compared with traditional open surgery, thoracoscopic diaphragmatic plication has the advantages of shorter operation time, less trauma, more rapid recovery and fewer complications, so it should be the first choice for children with congenital diaphragmatic eventration.
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OBJECTIVE@#This study tests whether long-term intake of Allium tuberosum (AT) can alleviate pulmonary inflammation in ovalbumin (OVA)-induced asthmatic mice and evaluates its effect on the intestinal microbiota and innate lymphoid cells (ILCs).@*METHODS@#BALB/c mice were divided into three groups: phosphate buffer saline, OVA and OVA + AT. The asthmatic murine model was established by sensitization and challenge of OVA in the OVA and OVA + AT groups. AT was given to the OVA + AT group by oral gavage from day 0 to day 27. On day 28, mice were sacrificed. Histopathological evaluation of lung tissue was performed using hematoxylin and eosin, and periodic acid-Schiff staining. The levels of IgE in serum, interleukin-5 (IL-5) and IL-13 from bronchoalveolar lavage fluid (BALF) were measured by enzyme-linked immunosorbent assay. The ILCs from the lung and gut were detected by flow cytometry. 16S ribosomal DNA sequencing was used to analyze the differences in colon microbiota among treatment groups.@*RESULTS@#We found that long-term intake of AT decreased the number of inflammatory cells from BALF, reduced the levels of IL-5 and IL-13 in BALF, and IgE level in serum, and rescued pulmonary histopathology with less mucus secretion in asthmatic mice. 16S ribosomal DNA sequencing results showed that AT strongly affected the colonic bacteria community structure in asthmatic mice, although it had no significant effect on the abundance and diversity of the microbiota. Ruminococcaceae and Desulfovibrionaceae were identified as two biomarkers of the treatment effect of AT. Moreover, AT decreased the numbers of ILCs in both the lung and gut of asthmatic mice.@*CONCLUSION@#The results indicate that AT inhibits pulmonary inflammation, possibly by impeding the activation of ILCs and adjusting the homeostasis of gut microbiota in asthmatic mice.
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OBJECTIVE@#To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function.@*METHODS@#Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing. Suspected variant was verified by Sanger sequencing. A series of molecular methods including PCR amplification, restriction enzyme digestion, ligation and transformation were also used to construct wild-type and mutant eukaryotic expression vectors of the PKD2 gene, which were transfected into HEK293T and HeLa cells for the observation of protein expression and cell localization.@*RESULTS@#The proband was found to harbor a c.2051dupA (p. Tyr684Ter) frame shift mutation of the PKD2 gene, which caused repeat of the 2051st nucleotide of its cDNA sequence and a truncated protein. Immunofluorescence experiment showed that the localization of the mutant protein within the cell was altered compared with the wild-type, which may be due to deletion of the C-terminus of the PKD2 gene.@*CONCLUSION@#The c.2051dupA (p. Tyr684Ter) mutation of the PKD2 gene probably underlay the pathogenesis of ADPKD in this pedigree.
Subject(s)
Female , Humans , Male , DNA Mutational Analysis , Frameshift Mutation , HEK293 Cells , HeLa Cells , Pedigree , Polycystic Kidney, Autosomal Dominant/physiopathology , Protein Kinases/genetics , Protein Transport/genetics , Exome SequencingABSTRACT
Acute lung injury(ALI) is an acute hypoxic respiratory insufficiency syndrome. It tends to develop into acute respiratory distress syndrome(ARDS). Renin angiotensin system(RAS) has been proved to be closely related to the development of ALI/ARDS. The classic axis of RAS, angiotensin converting enzyme(ACE)-angiotensin(Ang) Ⅱ-Ang Ⅱtype 1 receptor(AT1R) axis, induces ALI/ARDS by inducing excessive inflammatory response, damaging alveolar barrier function, triggering coagulation dysfunction and other mechanisms. ACE2-Ang(1-7)-MAS axis of RAS can antagonize ACE-Ang Ⅱ-AT1R axis, and improve ALI/ARDS by inhibiting inflammatory response, antagonizing oxidative stress and reducing pulmonary vascular permeability. ACE inhibitors, drugs to reduce the level of Ang Ⅱ, AT1R blockers, AT2R stimulants, recombinant ACE2,mesenchymal stem cells with ACE2 overexpression, Ang1-7 and lipoxin A4 have been proved to improve ALI/ARDS in animal experiments. These results provide a new target for prevention and treatment of ALI/ARDS and improvement of prognosis.
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OBJECTIVE@#To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).@*METHODS@#Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing. Candidate variant was verified by Sanger sequencing of his parents and healthy controls.@*RESULTS@#The patient was found to harbor a heterozygous c.420C>G (p.Asn140Lys) variant of the SOD1 gene. The same variant was not detected in his parents and 100 healthy controls. The variant has not been included in HGMD, dbSNP and other databases.@*CONCLUSION@#The c.420C>G variant of the SOD1 gene may underlie the ALS in this patient. Above finding has enriched the spectrum of SOD1 gene variants.
Subject(s)
Humans , Amyotrophic Lateral Sclerosis/genetics , China , Heterozygote , Superoxide Dismutase-1/genetics , Exome SequencingABSTRACT
The incidence of neurosyphilis has declined since effective penicillin therapy against Treponema pallidum was introduced. However, the diagnosis of neurosyphilis early in the disease course is very important in order to select appropriate antibiotic therapy. We report brain MRI, SPECT with Tc-99m ECD, and PET with F-18 FDG findings before antibiotic therapy in a neurosyphilis patient with neurological symptoms. The cerebral cortices showed hypoperfusion with a patchy distribution on SPECT and foci with high signal intensity on MRI, suggesting ischemia. Brain PET showed areas with hypometabolism in the temporoparietal lobes bilaterally.