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Primary ciliary dyskinesia (PCD) is a rare hereditary orphan condition that results in variable phenotypes, including infertility. About 50 gene variants are reported in the scientific literature to cause PCD, and among them, dynein axonemal assembly factor 4 ( DNAAF4 ) has been recently reported. DNAAF4 has been implicated in the preassembly of a multiunit dynein protein essential for the normal function of locomotory cilia as well as flagella. In the current study, a single patient belonging to a Chinese family was recruited, having been diagnosed with PCD and asthenoteratozoospermia. The affected individual was a 32-year-old male from a nonconsanguineous family. He also had abnormal spine structure and spinal cord bends at angles diagnosed with scoliosis. Medical reports, laboratory results, and imaging data were investigated. Whole-exome sequencing, Sanger sequencing, immunofluorescence analysis, hematoxylin-eosin staining, and in silico functional analysis, including protein modeling and docking studies, were used. The results identified DNAAF4 disease-related variants and confirmed their pathogenicity. Genetic analysis through whole-exome sequencing identified two pathogenic biallelic variants in the affected individual. The identified variants were a hemizygous splice site c.784-1G>A and heterozygous 20.1 Kb deletion at the DNAAF4 locus, resulting in a truncated and functionless DNAAF4 protein. Immunofluorescence analysis indicated that the inner dynein arm was not present in the sperm flagellum, and sperm morphological analysis revealed small sperm with twisted and curved flagella or lacking flagella. The current study found novel biallelic variants causing PCD and asthenoteratozoospermia, extending the range of DNAAF4 pathogenic variants in PCD and associated with the etiology of asthenoteratozoospermia. These findings will improve our understanding of the etiology of PCD.
Assuntos
Adulto , Humanos , Masculino , Astenozoospermia/genética , Dineínas/genética , População do Leste Asiático , Síndrome de Kartagener/genética , Mutação , Proteínas/genética , Sêmen/metabolismoRESUMO
Objective To compare the simulaion training with traditional training on central venous cathertrization(CVC). Methods Forty emergency residents from a teaching hospital were selected from May 2016 to May2017, and they were randomly assigned into two groups: simulation group (SG) and traditional group(TG). After the training they must completed one CVC and filled in a questionaire. The success rate, puncture time, trail time and complication rate between the two groups were compared. Results There were 18 students on tradional group(TG) and 19 students on simulation group(SG) who completed the whole procedure(complete the procedure in-dependently and filled in the questionaire). The success rate of SG and TG were 73.7% and 33.3% respectively (P<0.05).the lengthen of procedure was (21.3±4.0) min on SG and (31.3±5.9) min on TG, The trail times were (2.1±1.0) on SG and (4.5±1.0) on TG, the complication rate was 16%±37% on SG and 38%±50% on TG, compared with TG, the lengthen of procedure on SG was significantly shortened (P<0.05), the trail times on SG were significantly reduced (P < 0.05) and the complication rate significantly decreased (P <0.05). Conclusions The simulation training significantly improved the success rate of CVC, shortened the lengthen of procedure, decreased the trail times and complication rate. It deserved teaching hospitals to popularize-ing on standardized training for resident physicians.
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Objective To investigate the effects of sympathetic excitation and dendritic cell activation on myocar-dial injury in LPS-induced rats. Methods The rats were randomly divided into four groups:control group, LPS group ( intraperitoneal injection of LPS 10 mg/kg) ,intervention group ( given beta receptor blocker Ate 5 mg/kg after LPS administration) and DC inhibitor VAG539 intervention group ( VAG539 30 mg/kg gavage twice a day for 2 days after LPS administration) respectively . The powerlab system was used to record the hemodynamic and sympathetic data. The concentration of norepinephrine ( NE) in plasma was measured by high performance liquid chromatography ( HPLC) , and the expression and positive cells of TNF-α and DCs in myocardium were detected by immunohistochemistry. Results Compared with the control group, the plasma NE level significantly increased ( P<0.05) ;The expression of TNF-α and DCs in heart tissue significantly increased ( P<0.05) ;the renal sym-pathetic nerve activity (SNA) significantly increased in the three groups after LPS administration for 24 hours. Compared with the LPS group, the plasma NE level significantly decreased ( P<0.05 ) ; The expression of TNF-α and DCs in heart tissue significantly decreased ( P<0.05) ;the renal SNA significantly decreased after Ate and VAG539 administration(P<0.05).Conclusions Excessive activation of sympathetic nervous system and activation of DC aggravate myocardial injury in LPS-induced rats.
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<p><b>OBJECTIVE</b>To investigate the effect of atrial fibrillation on the accuracy of parameters monitored by transpulmonary thermodilution method.</p><p><b>METHODS</b>Totally 12 patients from emergency intensive care unit with paroxysmal atrial fibrillation were enrolled. The hemodynamic parameters such as heart rate, mean arterial pressure, cardiac index, systemic vascular resistance index, intrathoracic blood volume index, and extravascular lung water index were monitored by transpulmonary thermodilution method before paroxysmal atrial fibrillation and during atrial fibrillation, the number of B-lines was detected by lung ultrasonography before and during paroxysmal atrial fibrillation. The changes of all the parameters were analyzed.</p><p><b>RESULTS</b>When the paroxysmal atrial fibrillation happened, the heart rate increased significantly [(123.3±20.0) beat/min vs. (98.9±12.3) beat/min, P=0.006]; the mean arterial pressure [(86.9±10.2) mmHg vs. (93.0±12.5) mmHg, P=0.058], cardiac index [(2.82±0.62) L/(min·m(2)) vs. (3.31±1.02) L/(min·m(2)), P=0.058] and systemic vascular resistance index [(2254±947) dyn·s·cm(-5)·m(2) vs. (2302±828) dyn·s·cm(-5)·m(2), P=0.351] had no obvious change; however, the intrathoracic blood volume index significantly increased [(1333±90) ml/m(2) vs. (937±111) ml/m(2), P<0.001]; extravascular lung water index also increased significantly [(16.1±1.1) ml/kg vs. (6.5±1.9) ml/kg, P<0.001]. No significant difference was found in the number of B-lines detected by lung ultrasonography before and during atrial fibrillation (10.0±4.2 vs. 9.4±4.4, P=0.180).</p><p><b>CONCLUSION</b>Both intrathoracic blood volume and extravascular lung water monitored by transpulmonary thermodilution method were overvalued during paroxysmal atrial fibrillation, which may mislead the clinical judgment and decision-making.</p>
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Humanos , Fibrilação Atrial , Pressão Sanguínea , Volume Sanguíneo , Débito Cardíaco , Água Extravascular Pulmonar , Frequência Cardíaca , Hemodinâmica , Unidades de Terapia Intensiva , Termodiluição , Resistência VascularRESUMO
BACKGROUND: This study aimed to determine whether modified shock index (MSI) is associated with mortality that is superior to heart rate, blood pressure, or the shock index (SI) in emergency patients.METHODS: A retrospective database review was performed on 22161 patients who presented to Peking Union Medical College Hospital Emergency Department and received intravenous fluids from January 1 to December 31, 2009. We gathered data of the patients on age, gender, vital signs, levels of consciousness, presenting complaints, and SI and MSI were calculated for all patients.RESULTS: Multivariate regression analysis was performed to determine the correlation between risk factors and outcome. There is a significant correlation between emergency patient mortality rate and patient's vital signs obtained at the triage desk (HR>120 beats/min, systolic BP<90 mmHg, diastolic BP<60 mmHg). MSI is a stronger predictor of emergency patient mortality compared to heart rate and blood pressure alone, whereas SI does not have a significant correlation with emergency patient mortality rate.CONCLUSION: MSI is a clinically significant predictor of mortality in emergency patients. It may be better than using heart rate and blood pressure alone. SI is not significantly correlated with the mortality rate of the emergency patient.
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With increasing demands and recognition, emergency medicine has advanced rapidly in China in recent decades. The education and training of professionals in this field are important for the further development of emergency medicine. With an attempt to investigate the way to strengthen residency training system in emergency medicine, this article reviews its potential development direction, training modes, learning materials, and quality control.
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China , Medicina de Emergência , Educação , Internato e Residência , Métodos , Padrões de ReferênciaRESUMO
<p><b>OBJECTIVES</b>To study the pathologic feature of sudden cardiac death in Yunnan province and to investigate the role of myocarditis.</p><p><b>METHODS</b>During the period from 1991 to 2006, there were 29 cases of sudden cardiac death with autopsy performed. Fourteen of these cases were diagnosed to have myocarditis based on Dallas criteria and World Heart Federation's consensus. The clinical and pathologic findings were reviewed. The cardiac conduction system was examined in details by serial sectioning in 3 cases.</p><p><b>RESULTS</b>Fourteen cases suffered with myocarditis, which accounted for 48% of all cases of sudden cardiac death studied. The age of the deceased ranged from 8 to 68 years (mean = 30 years), with male-to-female ratio equaled to 9:5. Lymphocytic myocarditis and neutrophil myocarditis were the two major types, affecting 11 and 3 cases, respectively. The inflammatory infiltrates were often patchy rather than diffuse. The inflammatory foci were detected only in 8% to 42% (average = 20%) of the paraffin sections of the heart tissue. These lesions were usually located in the lateral wall of left ventricle and occasionally in interventricular septum and right ventricular wall. Myocardial injury was mild in most cases while patchy myocytolysis or coagulation necrosis was observed only in a few cases. Most of the lesions were relatively new and histologic evidence of myocardial repairing sometimes coexisted. Pericarditis and subacute endocarditis were also identified in 4 and 1 cases, respectively. Atrioventricular node was involved by myocarditis in 1 of the 3 cases examined for cardiac conduction system. Two cases showed gross evidence of cardiac dilatation (either left ventricle or biventricular). Respiratory tract and pulmonary infection was present in 5 cases.</p><p><b>CONCLUSIONS</b>Myocarditis represents one of the major pathologic changes of sudden cardiac death occurring in Yunnan province. The inflammation is usually focal. Further studies are required for delineation of possible etiologies which may include virus, bacteria or exogenous toxin.</p>