Objective To detecting the genetic etiology of a family with idiopathic pulmonary arterial hypertension and make gene diagnosis for the patient, so as to guide the targeted treatment and early intervention for the patient and her families. Methods The phenotype information of the family members was reviewed and their peripheral blood was collected for genomic DNA extraction. Exome sequencing was used to screen the mutations and proving the selected mutations by PCR-Sanger sequencing method. The pathogenicity of candidate mutation sites were searched through PubMed and related databases, and analyzed by protein function software. The judgement of pathogenicity was considered by clinical presentations and sequencing results of the patients based on Standards and guidelines for the interpretation of sequence variants revised by ACMG. Results At present, there was only one patient with pulmonary hypertension in this family, and other family members had no clinical manifestations of pulmonary hypertension. The female patient had BMPR2 gene c.1748dupA(p.Asn583Lysfs*6) heterozygous mutant. Her father and second son had BMPR2 gene c.1748dupA(p.Asn583Lysfs*6) heterozygous mutant, but none of the other members of the family had the mutation. Conclusions The heterozygous mutation of c.1748dupA (p.Asn583Lysfs*6) of BMPR2 gene is the genetic cause of the idiopathic pulmonary arterial hypertension patient, and the clinical significance of c.1748dupA(p.Asn583Lysfs*6) is pathogenic. The patient can be further diagnosed as pulmonary hypertension, primary 1 (PPH1) by gene diagnosis, and the mutant is novel and pathogenic for PPH1.
ObjectivePulmonary infection is commonly seen in patients with rheumatic autoimmune disease (RAD).Sometimes bronchoscopy is used to obtain microorganisms.In order to improve diagnostic yield, the factors affecting diagnostic yield of bronchoscopy in obtaining microorganisms in RAD patients with pulmonary abnormality were analyzed retrospectively. MethodsA retrospective study was performed in RAD patients with lung infiltrates who received bronchoscopy for obtaining microorganisms at the Department of Rheumatology,Peking Union Medical College Hospital from January 2009 to June 2013.Patients characteristics,clinical symptoms,medication history,laboratory parameters,radiographic findings and locations where microorganisms were obtained were recorded. Results87 patients received 91 bronchoscopic exams,including 72 bronchoalveolar lavages,21 bronchial aspirates,and 72 bronchial brushes.The total diagnostic yield was 52.7%.The diagnostic yield was 71.4% with bronchoalveolar lavage,38.9% with bronchial aspirate,and 18.1% with bronchial brush.Diagnostic yield was significantly higher in the patients with clinical symptoms of fever,cough or expectoration compared with the patients without either symptoms (60.0%% vs.34.6%,P=0.028).The patients with CT finding of nodular,massive or consolidation had a higher diagnostic yield compared with those with CT findings of reticular,linear or ground glass opacity (61.8% vs.26.1%,P=0.003).Diagnostic yield was not affected by location of bronchoalveolar lavage (P=0.691). ConclusionRAD patients with fever,cough or sputum,and CT findings of nodular,massive or consolidation would get a higher diagnostic yield by bronchoscopy.
ObjectiveTo observe the pathological changes in heart and lung tissues in rats with pulmonary hypertension induced by monocrotaline. MethodsTwenty-four male Sprague-Dawley rats were randomly and equally divided into an experimental group and a control group. The rats in the experimental group were intraperitoneally injected with monocrotaline to induce pulmonary hypertension, and the rats in the control group were treated with saline. All rats were fed for 3 weeks, and the general situation were observed. Then the rats were sacrificed for measurement of mean pulmonary artery pressure (mPAP), right ventricular hypertrophy index [RV/(LV+S)], changes of myocardial cells and lung vascular, calculated density of middle membrane smooth muscle cells (SMC) in medium/small pulmonary arteries accompanied with bronchi and alveoli, media thickness of pulmonary artery (PAMT), the percentage of wall thickness with outer diameter (WT%), the percentage of wall area with total area (WA%), the average diameter of myocardial cells (AD), and myocardial nuclei density (MND). ResultsCompared with the control group, the condition of rats in the experimental group were getting worse obviously.mPAP and RV/(LV+S) were both increased (both P < 0.05). The observation by light microscope revealed that obvious myocardial hypertrophy and structure disturbances, severe luminal stenosis of medium/small pulmonary arteries, medial thickening, infiltration of inflammatory cell in tissue space, proliferation of unorganized collagen fibers in the experimental group. The observation by electronic microscope showed proliferation of endothelial cell with irregular nuclei, increased organelles and vacuoles in the experimental group. The differences in SMC, PAMT, WT%, WA%, AD, and MND were significant between two groups (all P < 0.05). ConclusionsThe monocrotaline can induced pulmonary hypertension and right ventricular hypertrophy. The mechanism may be related to severe stenosis or occlusion of the vessel lumen caused by plexiform proliferation of endothelial cells, proliferation of smooth muscle cells and collagen fibers, compensatory hypertrophy and hyperplasia of myocardial cells.
ObjectiveTo summarize the experience and lessons of right ventricular decompression in children with pulmonary atresia and intact ventricular septum (PA/IVS) and to reflect on the strategies of right ventricular decompression.MethodsThe clinical data of 12 children with PA/IVS who underwent right ventricular decompression in our hospital from March 2015 to December 2019 were reviewed retrospectively. There were 10 males and 2 females with a median age at the time of surgery was 5 d (range, 1-627 d). Correlation analysis between the pulmonary valve transvalvular pressure gradient and changes in Z score of tricuspid valves after decompression was performed.ResultsOne patient died of refractory hypoxemia due to circulatory shunt postoperatively and family members gave up treatment. There were 2 (16.67%) patients received postoperative intervention. The pulmonary transvalvular gradient after decompression was 31.95±21.75 mm Hg. Mild pulmonary regurgitation was found in 7 patients, moderate in 2 patients, and massive in 1 patient. The median time of mechanical ventilation was 30.50 h (range, 6.00-270.50 h), and the average duration of ICU stay was 164.06±87.74 h. The average postoperative follow-up time was 354.82±331.37 d. At the last follow-up, the average Z score of tricuspid valves was 1.32±0.71, the median pressure gradient between right ventricle and main pulmonary artery was 41.75 mm Hg (range, 21-146 mm Hg) and the average percutaneous oxygen saturation was 92.78%±3.73%. Two children underwent percutaneous balloon pulmonary valvoplasty at 6 and 10 months after surgery, respectively, with the rate of reintervention-free of 81.8%. There was no significant correlation between pulmonary transvalvular gradients after decompression and changes in Z score of tricuspid valves (r=–0.506, P=0.201).ConclusionFor children with PA/IVS, the simple pursuit of adequate decompression during right ventricular decompression may lead to severe pulmonary dysfunction, increase the risk of ineffective circular shunt, and induce refractory hypoxemia. The staged decompression can ensure the safety and effectiveness for initial surgery and reduce the risk of postoperative death.
ObjectiveTo analyze perioperative prognostic factors of pediatric patients undergoing surgical correction of ventricular septal defect (VSD)and severe pulmonary arterial hypertension (PAH). MethodsForty pediatric patients with VSD and severe PAH (mean pulmonary artery pressure (PAPm) < 50 mm Hg)who underwent surgical repair in Beijing Anzhen Hospital from 2004 to 2012 were included in the study. There were 21 male and 19 female patients with their age of 7.2±3.3 years and body weight of 19.6±7.1 kg. All the patients were randomly divided into 2 groups:Group Ⅰ (Group=0, n=20, M/F:12/8, continuous nitroglycerin administration via central venous catheter (CVC)and GroupⅡ (Group=1, n=20, M/F:9/11, continuous prostaglandin E1 (PGE1)administration via CVC). The duration of intubation (Tintubation)was used as the dependent variable (Y). Patient age, cardiopulmonary bypass time (TCPB), postoperative PAPm, pulmonary vascular resistance index (PVRI), systemic to pulmonary pressure ratio (Ps/p), Group, left ventricular stroke work index (LVSWI)and right ventricular stroke work index (RVSWI)were used as independent variables (X). Multivariate liner regression analysis model was used to evaluate the influence of X on Y. ResultsThere was no perioperative death or severe complication in this group. Perioperative prognostic factors of pediatric patients undergoing surgical correction of VSD and severe PAH included group[x1, P=0.004, 95% CI (-71, -16)], TCPB[x2, P=0.011, 95% CI (0.9, 5.8)], posto-perative PAPm (x3, P=0.004 with 95% CI 3.2 to 13.3), RVSWI (x4, P=0.003 with 95% CI-16.9 to-4.3)and PVRI (x5, P=0.03 with 95% CI-0.29 to-0.02). The standardized regression equation was:Y=-0.60x1+0.54x2+2.22x3-1.70x4-0.15x5. ConclusionPGE1 administration, TCPB, postoperative PAPm, RVSWI and PVRI are predominant perioperative prognostic factors of pediatric patients undergoing surgical correction of VSD and severe PAH.
ObjectiveTo analyze the clinical presentations and radiological characteristics of pulmonary vein stenosis after radiofrequency ablation. MethodsClinical and radiological data of 2 patients with pulmonary vein stenosis after radiofrequency ablation for atrial fibrillation were retrospectively analyzed and literatures were reviewed. ResultsBoth patients had undergone circumferential pulmonary vein isolation. The symptoms appeared approximately 2 months after the operation. The major symptoms were cough, hemoptysis, exacerbation of dyspnea and chest pain. Both patients were misdiagnosed as other diseases such as pneumonia in other hospitals, and the anti-infection therapy was invalid. Both CT scans showed parenchymal exudative consolidation with varying degrees of interstitial septal thickening and small nodules. Both patients were confirmed as pulmonary vein stenosis by CT angiography. Literature review identified 21 cases of pulmonary vein stenosis after radiofrequency ablation for atrial fibrillation. The main clinical features are hemoptysis, chest pain, shortness of breath and cough. The most common features of thoracic radiological imaging are consolidation, groud-glass attenuation, pleural effusion and interstitial septal thickening. ConclusionsIf a patient presents with hemoptysis, dyspnea, chest pain or other clinical manifestations after ablation therapy and image findings show parenchymal exudative consolidation with interstitial septal thickening and multiple small nodules, the possibility of pulmonary vein stenosis should be considered. Contrast-enhanced CT combined with pulmonary vein imaging technology can clearly show the opening diameter of each pulmonary vein and its branches, so it is an important non-invasive examination method for the evaluation and diagnosis of pulmonary vein stenosis.
ObjectiveTo investigate the risk factors,characteristics and prognosis in Tibetan patients with venous thromboembolism. MethodsTibetan patients with VTE from plateau area,admitted in West China Hospital from January 2010 to December 2012,were recruited in the study. The VTE diagnosis was confirmed by CT pulmonary angiogram (CTPA) or vascular ultrasound examination. Risk factors,clinical symptoms,signs and laboratory tests were retrospectively investigated and follow-up by telephone interview was conducted. Results31 Tibetan VTE patients with 16 males and 15 females were included. The investigation of risk factors revealed that 15 patients suffered from obese(48.3%),10 patients suffered from highly viscous hyperlipidemia(32.3%). The most common clinical symptom was dyspnea(29%),followed by chest pain(19.4%),hemoptysis(16.1%) and cough(12.9%). The common signs were lower extremity edema(73.3%) and lung rale(36.7%). All the patients received anticoagulation therapy,and inferior vena caval filters were implanted in 2 patients. In two years' follow-up after discharge,2 patients died of tumor,2 died of pulmonary embolism,6 patients suffered from chronic embolization syndrome with lower extremity edema or pain,1 patient suffered from pulmonary hypertension after embolization,and thrombus in 20 patients disappeared or recanalized. ConclusionTibetans long-termly reside in high altitude areas with the eating habits of high-fat diet,which may increase the incidence of acquired risk factors such as viscous hyperlipidemia and obesity. There are no specific clinical symptoms and signs among Tibetan VTE patients,with dyspnea as the most common symptom and lower extremity edema as the most common sign. Patients with risk factors which can be eliminated in a short term have better prognosis.
ObjectiveTo investigate the effects of pulmonary rehabilitation on the exercise capacity and quality of life in patients with stable chronic obstructive pulmonary disease (COPD) for a optimal strategy for pulmonary rehabilitation. MethodsOne hundred and six patients with COPD in stable stage were divided into group B (n=37), group C (n=36), and group D(n=33) based on GOLD 2011.Each group of patients were randomly subdivided into a control group(usual care), a pulmonary rehabilitation strategy group 1 (breathing training), and a pulmonary rehabilitation strategy group 2 (breathing training and exercise training), and they were intervened for 24 weeks.Pulmonary function(FEV1%pred), COPD Assessment Test (CAT), modified British Medical Research Council dyspnea scale(mMRC), BODE index and 6-minute walking distance(6MWD) were compared before and after intervention. ResultsAfter pulmonary rehabilitation intervening for 24 weeks, in group B and group C, pulmonary rehabilitation strategy group 2 showed the best effect, CAT, mMRC, BODE index, and 6MWD were proved significantly different before and after pulmonary rehabilitation (P < 0.05).In group D, all indexes had no significant difference between pulmonary rehabilitation strategy group 1 and group 2 before and after pulmonary rehabilitation (P > 0.05), but they were better than those of the control group.Correlation analysis showed that CAT score had significant correlation with FEV1 % pred, mMRC, BODE index and 6MWD (P < 0.01). ConclusionPatients with different subgroup of COPD based on GOLD 2011 may take different pulmonary rehabilitation strategies to achieve the optimal effect.
Abstract: Objective To summarize the immediate effects and the near and midterm followup results of transthoracic balloon valvuloplasty for newborns and infants with severe and critical pulmonary valve stenosis to find out an effective plan for onestop balloon valvuloplasty. Methods From March 2006 to March 2010, 32 patients including 23 males and 9 females with severe and critical pulmonary valve stenosis were treated in Fu Wai Hospital. Their age ranged from 5 days to 11 months (4.59±3.21 months). Weight of the patients ranged from 2.3 to 10.5 kg (6.48±2.05 kg). Dilatation was performed under general anesthesia with intubation and the guidance of echocardiography. During the follow-up period, all survivors had serial echocardiographic assessment to measure the transpulmonary pressure gradient (TPG) and the degree of pulmonary regurgitation. Results All operations were successful with no severe postoperative complications. Hemodynamic indexes were stable after operation with TPG lowered from from 82±27 mm Hg preoperatively to 23±12 mm Hg postoperatively (t=15.28, Plt;0.05). Only 4 patients had a TPG of more than 40 mm Hg on echocardiography before leaving the hospital. Tricuspid regurgitation was decreased significantly with 17 cases of nonregurgitation, 13 cases of light regurgitation and 2 cases of moderate regurgitation. Saturation of peripheral oxygen in all the patients increased to higher than 95%. Followup time ranged from 1 month to 4 years (16±11 months). The results of the follow-up were satisfying for all the patients. The average TPG was 17±10 mm Hg with only one above 40 mm Hg. Pulmonary valve regurgitation was found in 24 patients including 23 with light pulmonary regurgitation and 1 with moderate regurgitation. Conclusion Transthoracic balloon valvuloplasty for newborns and infants with severe and critical pulmonary valve stenosis is safe and effective.
Objective To invesitgate the clinical characteristics, radiology, diagnosis and treatment of pulmonary cryptococcosis ( PC) . Methods The patients with PC diagnosed form January 2000 to January 2009 from three hospitals of Shanghai and Nanjing were retrospectively analyzed. Results A total of 34 patients were diagnosed, with 24 males and 10 females, and an average age of ( 40. 6 ±13. 5) years old ( ranged from 3 to 72 years) . Twelve patients had underlying diseases and 28 patients had symptoms. The main symptoms were pyrexia ( 20 cases) , cough and expectoration ( 22 cases) , chest pain ( 8 cases) , chest tightness ( 5 cases) , and hemoptysis ( 4 cases) . Seven cases were diagnosed as systemic pulmonary cryptococcosis, in which 3 cases were complicated with cryptococcal meningitis ( CM) , and 3 cases with CM and cryptococcal septicemia, and 1 cases with third dorsal vertebra Busse-Buschke disease. Radiologic manifestations showed multiformand nonspecific lesion such as nodus or nodules in 17 cases, pneumonia in 10 cases, mixed appearance in 6 cases, and diffused military nodes in 1 case. The diagnosis was confirmed by pathological study in 27 cases, including 12 cases by thoracotomy, 10 cases by percutaneous lung biopsy, 1 cases by thoracic vertebra biopsy, and 4 cases by bronchoscope. Ten cases were confirmed with culture positive or smear positive. Six cases were treated by surgery alone, 21 cases by antimycotic drug therapy alone, and 6 cases by drug therapy after surgery. One case quitted after the diagnosis. The duration of treatment varied from 2 weeks to 2 years. One case died in the hospital, 25 cases recovered after discharge, and 8 cases were lost to follow-up. Conclusions PC is likely to be misdiagnosed due to atypical clinical and image manifestations. The diagnosis is always comfirmed on the pathological and microbiological study.