Objective:To identify the candidate protein biomarkers of adult-onset-immunodeficiency(AOID) syndrome using serum proteomics. Methods:Screening and verification phases were performed in the study. A total of 97 serum ...Objective:To identify the candidate protein biomarkers of adult-onset-immunodeficiency(AOID) syndrome using serum proteomics. Methods:Screening and verification phases were performed in the study. A total of 97 serum samples were classified into three groups:AOID patients with opportunistic infections(active AOID),AOID patients without opportunistic infections(inactive AOID),and healthy control. In the screening phase,pooled sera collected from patients and healthy control in each group were separated by 2D-gel electrophoresis,analyzed for differentially expressed proteins and identified for biomarkers using LC/MS. In the verification phase,the protein candidates were selected for confirmation by western blotting. Results:The analysis revealed 35 differentially expressed proteins. Three proteins including haptoglobin,gelsolin,and transthyretin,were selected for verification. The results showed that the levels of haptoglobin in both active and inactive AOID groups were significantly higher than that in the control group,while the levels of gelsolin in the active AOID group were significantly lower than that in the inactive AOID group. The level of transthyretin in the active AOID group was also significantly lower than that in the control group. Conclusions:The comparison of serum proteins between the three groups revealed three candidates which are related to chronic inflammatory diseases. Haptoglobin and transthyretin biomarkers could be applied in clinical assessment for monitor of disease outcome,including for the study of AOID pathogenesis.展开更多
We describe a case of a rare congenital heart disorder,scimitar syndrome,diagnosed in an adult woman presenting with dyspnea on exertion,chest pain and recurrent episodes of pulmonary infections.The hallmark of the sy...We describe a case of a rare congenital heart disorder,scimitar syndrome,diagnosed in an adult woman presenting with dyspnea on exertion,chest pain and recurrent episodes of pulmonary infections.The hallmark of the syndrome is the presence of an enlarged anomalous pulmonary vein draining into the inferior vena cava.Speckle tracking echocardiography,including the often-forgotten atrial strain evaluation,is a sensitive parameter that should be routinely used for a better clinical and prognostic evaluation of patients with congenital heart disease(CHD).展开更多
Scimitar Syndrome is a congenital condition resulting in anomalous pulmonary venous drainage from the lung into the inferior vena cava. It is often associated with cardiac and pulmonary abnormalities, both which are d...Scimitar Syndrome is a congenital condition resulting in anomalous pulmonary venous drainage from the lung into the inferior vena cava. It is often associated with cardiac and pulmonary abnormalities, both which are determinants in the severity and timing of presentation. True incidence of this condition is unknown and likely to be significantly underestimated as many patients remain asymptomatic through adult life. The increase in availability and use of medical imaging suggests that more asymptomatic and subacute cases will be detected. The management in those with the delayed presentation of this condition is debated, however the mainstay of therapy remains medical.展开更多
BACKGROUND Several reports of adult-onset immunodeficiency syndrome have been associated with anti-interferon-gamma(IFN-γ)autoantibodies(AIGAs).However,it is rare to find AIGAs with intracranial infections.CASE SUMMA...BACKGROUND Several reports of adult-onset immunodeficiency syndrome have been associated with anti-interferon-gamma(IFN-γ)autoantibodies(AIGAs).However,it is rare to find AIGAs with intracranial infections.CASE SUMMARY In this case study,we report a case of an AIGAs with intracranial infection and hand rashes considered Sweet’s syndrome.The patient presented to our hospital with a persistent cough,a fever that had been going on for 6 mo,and a rash that had been going on for a week.The patient started losing consciousness gradually on the fourth day after admission,with neck stiffness and weakened limb muscles.The upper lobe of the left lung had a high-density mass with no atypia and a few inflammatory cells in the interstitium.Brain magnetic resonance imaging and cerebrospinal fluid suggest intracranial infection.The pathology of the skin damage on the right upper extremity revealed an infectious lesion that was susceptible to Sweet’s disease.It has an anti-IFN-γautoantibody titer of 1:2500.She was given empirical anti-non-tuberculous mycobacterial and antifungal treatments.The patient had no fever,obvious cough,headache,or rash on the hand.She got out of bed and took care of herself following hospitalization and discharge with medicine.CONCLUSION Adults with severe and recurrent infections of several organs should be considered for AIGAs if no other known risk factors exist.AIGAs are susceptible to subsequent intracranial infections and Sweet’s syndrome.展开更多
BACKGROUND Adult-onset Still’s disease(AOSD)is a rare systemic inflammatory disease,which is characterized by daily fever and arthritis,with an evanescent rash and neutrophilic leukocytosis.To date,there has been no ...BACKGROUND Adult-onset Still’s disease(AOSD)is a rare systemic inflammatory disease,which is characterized by daily fever and arthritis,with an evanescent rash and neutrophilic leukocytosis.To date,there has been no definite laboratory or imaging test available for diagnosing AOSD;the diagnosis is one of exclusion,which can be very challenging.In particular,AOSD patients may experience different complications affecting their clinical picture,management,and prognosis.The treatment of AOSD remains largely empirical and involves therapeutic agents.CASE SUMMARY We report the case of a 36-year-old woman who presented with fever,red rash,arthralgia,and sore throat.Her serum ferritin level and white blood cell count were markedly elevated,and the first diagnosis 22 years prior was"juvenile rheumatoid arthritis of systemic type".The patient was treated with prednisone,sulfasalazine,methotrexate,and leflunomide.After remission of her symptoms,the patient stopped taking the medications,and the disease recurred.Ultimately,the patient was diagnosed with adult-onset Still's disease.Relapse occurred several times due to self-medication withdrawal,and an interleukin-6 antagonist(tocilizumab/Actemra)was administered to control the disease.Recently,she was hospitalized because an incision did not heal,and the patient suddenly developed high fever and diarrhea during hospitalization.The patient's disease progressed violently and quickly developed into macrophage activation syndrome,disseminated intravascular coagulation,shock,and multiple organ failure.The patient had sudden cardiac arrest,and she died despite emergency rescue efforts.CONCLUSION AOSD patients need regular follow-up in the long-term treatment process,and must press formulary standard medication,and do not voluntarily withdraw or reduce the dose.Otherwise it may cause disease back-and-forth or serious lifethreatening complications.Meanwhile,strict management of trauma,infections,tumors,and other diseases may contribute to improved outcomes in patients with complications.展开更多
BACKGROUND Adult-onset still disease(AOSD) and hemophagocytic syndrome(HPS) are two inflammatory diseases with very similar clinical manifestations. HPS is one of the most serious complications of AOSD and its risk of...BACKGROUND Adult-onset still disease(AOSD) and hemophagocytic syndrome(HPS) are two inflammatory diseases with very similar clinical manifestations. HPS is one of the most serious complications of AOSD and its risk of death is very high. It is difficult to identify HPS early in patients with AOSD, but early identification and proper treatment directly affects the prognosis.CASE SUMMARY A 39-year-old male showed a high spiking fever and myalgia. Laboratory data revealed elevated white blood cell, serum ferritin, and neutrophil percentage.However, his fever failed to relieve after a clear diagnosis of AOSD caused by pulmonary infection and treatment by antibiotics and corticosteroids;further laboratory data showed elevated serum ferritin, C-reactive protein, erythrocyte sedimentation rate and triglyceride, as well as liver abnormalities. Bone marrow smear showed hemophagocytosis. Secondary HPS was definitely diagnosed. The high fever disappeared and the laboratory findings returned to normal values after treatment by high-dose intravenous methylprednisolone and methotrexate.CONCLUSION For AOSD patients with high suspicion of HPS, active examination needs to be considered for early diagnosis, and timely using of adequate amount of corticosteroids is the key to reducing risk of HPS death.展开更多
Importance:Scimitar syndrome(SS)is a rare type of congenital heart disease characterized by total or partial anomalous venous drainage of the right lung to the inferior vena cava.However,the surgical repair techniques...Importance:Scimitar syndrome(SS)is a rare type of congenital heart disease characterized by total or partial anomalous venous drainage of the right lung to the inferior vena cava.However,the surgical repair techniques for SS vary according to patients'anatomical and pathological features.Objective:This study was performed to analyze the mid-term results of a less invasive surgical correction technique for SS in children.Methods:Eleven patients with SS who underwent surgical repair from January 2012 to March 2020 were retrospectively analyzed.The anomalous scimitar vein(SV)was directly reimplanted to the left atrium,and the concomitant atrial septal defect was simultaneously repaired with cardiopulmonary bypass.Results:Three male and eight female patients were included in the study.Their mean age was 3.1±1.3 years,and their mean body weight was 12.8±3.0 kg.Most patients had symptoms,such as upper respiratory tract infection,dyspnea,and recurrent pneumonia,and two patients had pulmonary hypertension.None of the 11 patients who underwent direct SV reimplantation by right thoracotomy developed bleeding,arrhythmia,heart failure,or perioperative death,and no patients required reoperation during a mean follow-up period of 36.6±15.2 months.Postoperative echocardiography revealed no restenosis or obstruction of the anastomosis in any patients.Interpretation:Surgical repair for SS by right thoracotomy and direct anastomosis of the SV to the posterior wall of the left atrium is safe and effective,with good long-term patency of the reimplanted SV and a low mortality rate.展开更多
We report a case of an anomalous pulmonary vein on chest X-ray resembling a scimitar sign in an 80-year-old female undergoing investigation of syncope.Multislice computed tomography(CT) with multiplanar reformatting a...We report a case of an anomalous pulmonary vein on chest X-ray resembling a scimitar sign in an 80-year-old female undergoing investigation of syncope.Multislice computed tomography(CT) with multiplanar reformatting and maximum intensity projections demonstrated an aberrant right inferior pulmonary vein coursing inferomedially towards the diaphragm before turning superiorly and draining normally into the left atrium.The diagnosis of an incidental meandering right pulmonary vein was established.The case is used to review the literature on this rare pulmonary anomaly,including pathogenesis,its relationship with scimitar syndrome and scimitar variant,and diagnosis,with an emphasis on the role modern CT techniques can play in noninvasive diagnosis.A revision to the nomenclature of pulmonary vascular anomalies is proposed to help reduce confusion in the literature.展开更多
BACKGROUND QT interval prolongation can induce torsades de pointes(TdP),a potentially fatal ventricular arrhythmia.Recently,an increasing number of non-cardiac drugs have been found to cause QT prolongation and/or TdP...BACKGROUND QT interval prolongation can induce torsades de pointes(TdP),a potentially fatal ventricular arrhythmia.Recently,an increasing number of non-cardiac drugs have been found to cause QT prolongation and/or TdP onset.Moreover,recent findings have demonstrated the key roles of systemic inflammatory activation and fever in promoting long-QT syndrome(LQTS)and TdP development.CASE SUMMARY A 30-year-old woman was admitted with a moderate to high-grade episodic fever for two weeks.The patient was administered with multiple antibiotics after hospitalization but still had repeating fever and markedly elevated C-reactive protein.Once after a high fever,the patient suddenly lost consciousness,and electrocardiogram(ECG)showed transient TdP onset after frequent premature ventricular contraction.The patient recovered sinus rhythm and consciousness spontaneously,and post-TdP ECG revealed a prolonged QTc interval of 560 ms.The patient’s clinical manifestations and unresponsiveness to the antibiotics led to the final diagnosis of adult-onset Still’s disease(AOSD).There was no evidence of cardiac involvement.After the AOSD diagnosis,discontinuation of antibiotics and immediate initiation of intravenous dexamethasone administration resulted in the normal temperature and QTc interval.The genetic analysis identified that the patient and her father had heterozygous mutations in KCNH2(c.1370C>T)and AKAP9(c.7725A>C).During the 2-year follow-up period,the patient had no recurrence of any arrhythmia and maintained normal QTc interval.CONCLUSION This case study highlights the risk of systemic inflammatory activation and antibiotic-induced TdP/LQTS onset.Genetic analysis should be considered to identify individuals at high risk of developing TdP.展开更多
文摘Objective:To identify the candidate protein biomarkers of adult-onset-immunodeficiency(AOID) syndrome using serum proteomics. Methods:Screening and verification phases were performed in the study. A total of 97 serum samples were classified into three groups:AOID patients with opportunistic infections(active AOID),AOID patients without opportunistic infections(inactive AOID),and healthy control. In the screening phase,pooled sera collected from patients and healthy control in each group were separated by 2D-gel electrophoresis,analyzed for differentially expressed proteins and identified for biomarkers using LC/MS. In the verification phase,the protein candidates were selected for confirmation by western blotting. Results:The analysis revealed 35 differentially expressed proteins. Three proteins including haptoglobin,gelsolin,and transthyretin,were selected for verification. The results showed that the levels of haptoglobin in both active and inactive AOID groups were significantly higher than that in the control group,while the levels of gelsolin in the active AOID group were significantly lower than that in the inactive AOID group. The level of transthyretin in the active AOID group was also significantly lower than that in the control group. Conclusions:The comparison of serum proteins between the three groups revealed three candidates which are related to chronic inflammatory diseases. Haptoglobin and transthyretin biomarkers could be applied in clinical assessment for monitor of disease outcome,including for the study of AOID pathogenesis.
文摘We describe a case of a rare congenital heart disorder,scimitar syndrome,diagnosed in an adult woman presenting with dyspnea on exertion,chest pain and recurrent episodes of pulmonary infections.The hallmark of the syndrome is the presence of an enlarged anomalous pulmonary vein draining into the inferior vena cava.Speckle tracking echocardiography,including the often-forgotten atrial strain evaluation,is a sensitive parameter that should be routinely used for a better clinical and prognostic evaluation of patients with congenital heart disease(CHD).
文摘Scimitar Syndrome is a congenital condition resulting in anomalous pulmonary venous drainage from the lung into the inferior vena cava. It is often associated with cardiac and pulmonary abnormalities, both which are determinants in the severity and timing of presentation. True incidence of this condition is unknown and likely to be significantly underestimated as many patients remain asymptomatic through adult life. The increase in availability and use of medical imaging suggests that more asymptomatic and subacute cases will be detected. The management in those with the delayed presentation of this condition is debated, however the mainstay of therapy remains medical.
基金2020 Guangxi University Young and Middle aged Teachers'Basic Research Ability Improvement Project,No.2020KY03032.
文摘BACKGROUND Several reports of adult-onset immunodeficiency syndrome have been associated with anti-interferon-gamma(IFN-γ)autoantibodies(AIGAs).However,it is rare to find AIGAs with intracranial infections.CASE SUMMARY In this case study,we report a case of an AIGAs with intracranial infection and hand rashes considered Sweet’s syndrome.The patient presented to our hospital with a persistent cough,a fever that had been going on for 6 mo,and a rash that had been going on for a week.The patient started losing consciousness gradually on the fourth day after admission,with neck stiffness and weakened limb muscles.The upper lobe of the left lung had a high-density mass with no atypia and a few inflammatory cells in the interstitium.Brain magnetic resonance imaging and cerebrospinal fluid suggest intracranial infection.The pathology of the skin damage on the right upper extremity revealed an infectious lesion that was susceptible to Sweet’s disease.It has an anti-IFN-γautoantibody titer of 1:2500.She was given empirical anti-non-tuberculous mycobacterial and antifungal treatments.The patient had no fever,obvious cough,headache,or rash on the hand.She got out of bed and took care of herself following hospitalization and discharge with medicine.CONCLUSION Adults with severe and recurrent infections of several organs should be considered for AIGAs if no other known risk factors exist.AIGAs are susceptible to subsequent intracranial infections and Sweet’s syndrome.
文摘BACKGROUND Adult-onset Still’s disease(AOSD)is a rare systemic inflammatory disease,which is characterized by daily fever and arthritis,with an evanescent rash and neutrophilic leukocytosis.To date,there has been no definite laboratory or imaging test available for diagnosing AOSD;the diagnosis is one of exclusion,which can be very challenging.In particular,AOSD patients may experience different complications affecting their clinical picture,management,and prognosis.The treatment of AOSD remains largely empirical and involves therapeutic agents.CASE SUMMARY We report the case of a 36-year-old woman who presented with fever,red rash,arthralgia,and sore throat.Her serum ferritin level and white blood cell count were markedly elevated,and the first diagnosis 22 years prior was"juvenile rheumatoid arthritis of systemic type".The patient was treated with prednisone,sulfasalazine,methotrexate,and leflunomide.After remission of her symptoms,the patient stopped taking the medications,and the disease recurred.Ultimately,the patient was diagnosed with adult-onset Still's disease.Relapse occurred several times due to self-medication withdrawal,and an interleukin-6 antagonist(tocilizumab/Actemra)was administered to control the disease.Recently,she was hospitalized because an incision did not heal,and the patient suddenly developed high fever and diarrhea during hospitalization.The patient's disease progressed violently and quickly developed into macrophage activation syndrome,disseminated intravascular coagulation,shock,and multiple organ failure.The patient had sudden cardiac arrest,and she died despite emergency rescue efforts.CONCLUSION AOSD patients need regular follow-up in the long-term treatment process,and must press formulary standard medication,and do not voluntarily withdraw or reduce the dose.Otherwise it may cause disease back-and-forth or serious lifethreatening complications.Meanwhile,strict management of trauma,infections,tumors,and other diseases may contribute to improved outcomes in patients with complications.
文摘BACKGROUND Adult-onset still disease(AOSD) and hemophagocytic syndrome(HPS) are two inflammatory diseases with very similar clinical manifestations. HPS is one of the most serious complications of AOSD and its risk of death is very high. It is difficult to identify HPS early in patients with AOSD, but early identification and proper treatment directly affects the prognosis.CASE SUMMARY A 39-year-old male showed a high spiking fever and myalgia. Laboratory data revealed elevated white blood cell, serum ferritin, and neutrophil percentage.However, his fever failed to relieve after a clear diagnosis of AOSD caused by pulmonary infection and treatment by antibiotics and corticosteroids;further laboratory data showed elevated serum ferritin, C-reactive protein, erythrocyte sedimentation rate and triglyceride, as well as liver abnormalities. Bone marrow smear showed hemophagocytosis. Secondary HPS was definitely diagnosed. The high fever disappeared and the laboratory findings returned to normal values after treatment by high-dose intravenous methylprednisolone and methotrexate.CONCLUSION For AOSD patients with high suspicion of HPS, active examination needs to be considered for early diagnosis, and timely using of adequate amount of corticosteroids is the key to reducing risk of HPS death.
基金The research is supported by Pediatric Special Key Project from Beijing Hospitals Authority Pediatric Collaborative Development Center,Grant No.XTYB201819。
文摘Importance:Scimitar syndrome(SS)is a rare type of congenital heart disease characterized by total or partial anomalous venous drainage of the right lung to the inferior vena cava.However,the surgical repair techniques for SS vary according to patients'anatomical and pathological features.Objective:This study was performed to analyze the mid-term results of a less invasive surgical correction technique for SS in children.Methods:Eleven patients with SS who underwent surgical repair from January 2012 to March 2020 were retrospectively analyzed.The anomalous scimitar vein(SV)was directly reimplanted to the left atrium,and the concomitant atrial septal defect was simultaneously repaired with cardiopulmonary bypass.Results:Three male and eight female patients were included in the study.Their mean age was 3.1±1.3 years,and their mean body weight was 12.8±3.0 kg.Most patients had symptoms,such as upper respiratory tract infection,dyspnea,and recurrent pneumonia,and two patients had pulmonary hypertension.None of the 11 patients who underwent direct SV reimplantation by right thoracotomy developed bleeding,arrhythmia,heart failure,or perioperative death,and no patients required reoperation during a mean follow-up period of 36.6±15.2 months.Postoperative echocardiography revealed no restenosis or obstruction of the anastomosis in any patients.Interpretation:Surgical repair for SS by right thoracotomy and direct anastomosis of the SV to the posterior wall of the left atrium is safe and effective,with good long-term patency of the reimplanted SV and a low mortality rate.
文摘We report a case of an anomalous pulmonary vein on chest X-ray resembling a scimitar sign in an 80-year-old female undergoing investigation of syncope.Multislice computed tomography(CT) with multiplanar reformatting and maximum intensity projections demonstrated an aberrant right inferior pulmonary vein coursing inferomedially towards the diaphragm before turning superiorly and draining normally into the left atrium.The diagnosis of an incidental meandering right pulmonary vein was established.The case is used to review the literature on this rare pulmonary anomaly,including pathogenesis,its relationship with scimitar syndrome and scimitar variant,and diagnosis,with an emphasis on the role modern CT techniques can play in noninvasive diagnosis.A revision to the nomenclature of pulmonary vascular anomalies is proposed to help reduce confusion in the literature.
基金the Beijing Key Clinical Subject Program and Beijing Municipal Administration of Hospitals Incubating Program,No.PX2018002.
文摘BACKGROUND QT interval prolongation can induce torsades de pointes(TdP),a potentially fatal ventricular arrhythmia.Recently,an increasing number of non-cardiac drugs have been found to cause QT prolongation and/or TdP onset.Moreover,recent findings have demonstrated the key roles of systemic inflammatory activation and fever in promoting long-QT syndrome(LQTS)and TdP development.CASE SUMMARY A 30-year-old woman was admitted with a moderate to high-grade episodic fever for two weeks.The patient was administered with multiple antibiotics after hospitalization but still had repeating fever and markedly elevated C-reactive protein.Once after a high fever,the patient suddenly lost consciousness,and electrocardiogram(ECG)showed transient TdP onset after frequent premature ventricular contraction.The patient recovered sinus rhythm and consciousness spontaneously,and post-TdP ECG revealed a prolonged QTc interval of 560 ms.The patient’s clinical manifestations and unresponsiveness to the antibiotics led to the final diagnosis of adult-onset Still’s disease(AOSD).There was no evidence of cardiac involvement.After the AOSD diagnosis,discontinuation of antibiotics and immediate initiation of intravenous dexamethasone administration resulted in the normal temperature and QTc interval.The genetic analysis identified that the patient and her father had heterozygous mutations in KCNH2(c.1370C>T)and AKAP9(c.7725A>C).During the 2-year follow-up period,the patient had no recurrence of any arrhythmia and maintained normal QTc interval.CONCLUSION This case study highlights the risk of systemic inflammatory activation and antibiotic-induced TdP/LQTS onset.Genetic analysis should be considered to identify individuals at high risk of developing TdP.
