Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22–24 coding for the regulatory subunit type Ⅰ alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). We reviewed CNC’s clinical features, diagnosis, treatment and molecular etiology.
ObjectiveTo investigate the clinical manifestations of patients with cardiac myxoma and the factors affecting the occurrence of embolic events. Methods A retrospective study of 38 patients with cardiac myxoma diagnosed and surgically removed from January 2010 to December 2017 was performed. There were 11 males and 27 females at age of 32-75 (50.00±16.12) years. The patients were divided into a non-embolized group and an embolized group. The clinical manifestations of the patients were summarized and the factors leading to embolism were analyzed. RseultsOf the 26 patients in the non-embolized group, 22 patients (84.62%) had dyspnea, 14 patients (53.85%) had palpitations, 4 patients (15.38%) had angina pectoris, and 1 patient (3.85%) had heart failure. Of the 12 patients in the embolized group, 4 patients (33.33%) had dyspnea, 3 patients (25%) had palpitations, and 1 patient (8.33%) had angina pectoris. The mean diameter of the non-embolized group was 5.71±1.63 cm, and the maximum diameter of the tumor in the embolized group was 4.52±1.88 cm. There was no significant difference between the maximum diameter of the tumor in the embolized group and the maximum diameter of the non-embolized group (P>0.05). Atrial fibrillation occurred in 2 patients in the non-embolized group before operation. Atrial fibrillation occurred in 5 patients in the embolized group. Atrial fibrillation was more likely to occur in the embolized group (P<0.05). Conclusion Atrial fibrillation in the patients with cardiac myxoma is closely related to embolic events. The size of myxoma is not related to the occurrence of embolic events.
ObjectiveTo investigate the clinical characteristics and genetic phenotype of mitochondrial myopathy associated with lactic acidemia and stroke-like seizure syndrome (MELAS) in DNA A3243G mutation, and to improve the clinical understanding and diagnosis.MethodsThe clinical data and imaging characteristics of 4 patients with DNA A3243G mutation-related MELAS syndrome who were diagnosed and treated in the Department of Pediatric Neurology, Henan Provincial People's Hospital from June 2017 to June 2018 were retrospectively reviewed.ResultsOf the 4 patients, 3 were caused by convulsions, 1 was caused by dizziness, and the MELAS syndrome caused by mitochondrial DNA A3243G mutation was confirmed by genetic testing. The patients were treated with anti-epilepsy drugs. The patients were followed up for at least 1 year, and 2 of 4 patients were stable, 1 patient still had seizures, and 1 patient did not improved.ConclusionsThe clinical phenotypic heterogeneity of patients with DNA A3243G mutation-related MELAS syndrome is caused by the " heterogeneity” and " threshold effect” of DNA mutation. The mutation rate of DNA A3243G is as high as 80%. In the era of promoting precision medicine, genes examination can help early diagnosis and early treatment of MELAS syndrome as well as improve the quality of life of patients and improve the prognosis.
ObjectiveTo investigate the clinical features and influencing factors for new-onset atrial fibrillation (AF) early after coronary artery bypass grafting.MethodsThe clinical data of 339 patients undergoing coronary artery bypass grafting in our hospital from January 2012 to January 2019 were retrospectively analyzed. There were 267 males and 72 females with an average age of 37-83 (58.03±8.90) years. The clinical features and influencing factors for new-onset AF after surgery were investigated.ResultsThere were 234 patients of off-pump coronary artery bypass grafting (OPCABG), with 36 (15.4%) new-onset AF patients after operation, among whom 16.1% were males and 12.5% were females. There were 105 patients of on-pump coronary artery bypass grafting (CABG), with 39 (37.1%) new-onset AF patients, among whom 40.7% were males and 25.0% were females. The incidence was higher after the CABG surgery than that after the OPCABG surgery (37.1% vs. 15.4%, P<0.05). There was no statistical difference in the incidence rate between males and females (P>0.05). The incidence of new-onset AF after surgery was higher in ≥60 years patients for both operations (18.9% and 45.8%), which was significantly higher than that in <45 years patients (P<0.05). For both operations, the incidence of new-onset AF after surgery was high on the second day (24-48 h) after surgery, and most of the AF lasted for 1 day (P<0.05). The hypertension (OR=4.983, P=0.036), frequent premature atrial contraction or atrial tachycardia (OR=17.682, P=0.002), postoperative creatine kinase isoenzyme MB (CKMB) (OR=0.152, P=0.042), left anterior and posterior diameters (OR=17.614, P<0.001) and preoperative ejection fraction (OR=7.094, P=0.011) were influencing factors for new-onset AF after OPCABG. Diabetes (OR=11.631, P=0.020), other cardiac malformations (OR=29.023, P=0.002), frequent premature ventricular contraction or ventricular tachycardia (OR=0.047, P=0.001), and postoperative CKMB (OR=3.672, P=0.040) were influencing factors for new-onset AF after CABG.ConclusionThe incidence of new-onset AF after CABG is higher than that after OPCABG, and it increases with age increasing. There is no difference in the incidence between males and females. The influencing factors for the two operations are different.
ObjectiveTo analyze the clinical features and prognosis of coronavirus disease 2019 (COVID-19) patients.MethodsA total of 379 confirmed COVID-19 patients admitted to Public Health Clinical Center of Chengdu from January 16 to November 30, 2020 were divided into two groups including an elderly group (42 patients, ≥60 years) and a non-elderly group (337 patients, <60 years) by age. The epidemiology, clinical features, laboratory tests, treatment and prognosis of the two groups were compared.ResultsAmong the 379 patients, 286 (75.5%) were males and 93 (24.5%) were females, aged from 2 months to 87 years, with an average age of 41.2 years. The average age of the elderly group was 69.5 years, and 61.9% of them were females. They were imported from Wuhan or local secondary patients (73.8%), mainly common or critical type (88.1%). While, the average age of the non-elderly group was 37.8 years, and males were more common (80.1%). There were mostly from foreign input (75.7%), mainly mild or ordinary type (95.0%). A total of 179 patients (47.2%) had one or more underlying diseases. Hypertension (15 patients, 35.7%) and diabetes (11 patients, 26.2%) were more common in the elderly group, while non-alcoholic steatohepatitis (132 patients, 39.2%) was more frequent in the non-elderly group. The most common clinical manifestations were fever (138 patients, 36.4%) and cough (129 patients, 34.0%). Fever, cough, dyspnea, and fatigue were more common in the elderly group than those in the non-elderly group (P<0.05). Compared with the non-elderly group, the elderly group had lower total lymphocyte count, CD4+ and CD8+ T-cell count, higher level of myocardial injury or inflammation markers (P<0.05). Abnormal echocardiography in 139 patients (36.7%) was mainly caused by decreased left ventricular diastolic function (22.7%) and heart valve regurgitation (14.0%), and the rate in the elderly group was significantly higher than that in the non-elderly group (85.7% vs. 30.6%, P<0.05). After treatment, 3 patients in the elderly group died, and the others were cured and discharged. The hospitalization duration of the elderly group was longer than that of the non-elderly group (22.1 d vs. 18.8 d, P=0.033).ConclusionsElderly COVID-19 patients are mainly imported from Wuhan or secondary to the local population, mainly common or critical type, often associated with basic diseases such as hypertension or diabetes. While, non-elderly COVID-19 patients are mainly imported from abroad, mainly mild or common type, often associated with non-alcoholic steatohepatitis. After treatment, most of the patients have a good prognosis.
Objective To explore the clinical characteristics of patients who were infected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) of different genotypes. Methods A retrospective study was conducted on 111 SARS-CoV-2 infected cases at home and abroad admitted to Chengdu Public Health Clinical Medical Center between January and September 2020. The basic information, gene sequencing results (Pangolin typing method), clinical typing, first laboratory examinations 24 hours after admission, and whether repositive after discharge were collected. According to Pangolin typing, patients were divided into five groups: A, B, B.X, B.1.X and B.1.1.X. The basic information (age, sex, and origin), laboratory test results (lymphocyte count, C-reactive protein, serum amyloid A, CD3+ T lymphocytes, CD4+ T lymphocytes, and CD8+ T lymphocytes), clinical classification and whether repositive were compared among different genotype infected patients. Results Among the 111 infected patients, 54 (48.6%) were males and 57 (51.4%) were females. Their ages ranged from 16 to 87 years, with a median age of 49 years. In terms of clinical classification, there were 10 asymptomatic cases (9.0%), 10 mild cases (9.0%), 64 ordinary cases (57.7%), 13 severe cases (11.7%), and 14 critical cases (12.6%). There were 75 domestic cases (67.6%) and 36 imported cases (32.4%). Eighty cases (72.1%) did not return to positive, and 31 cases (27.9%) returned to positive. There were 8 cases infected by type A virus, 18 cases infected by type B virus, 26 cases infected by type B.X virus, 5 cases infected by type B.1.X virus, and 54 cases infected by type B.1.1.X virus. Among patients infected by different genotype viruses, no statistically significant difference was found in sex, age, clinical type, laboratory examination, or whether repositive (P>0.05), but there was statistically significant difference in the distribution of domestic and imported cases (P=0.016). Type B virus infected patients were mostly domestic cases, while type B.X virus infected patients were mostly imported cases. Conclusion The distribution of domestic and imported cases is different among SARS-CoV-2 of different genotypes.
Objective To investigate the clinical characteristics and death risk factors of patients with community acquired pneumonia and sepsis. Methods Data of 350 patients with community-acquired pneumonia and sepsis admitted to the Intensive Care Unit of Third Xiangya Hospital of Central South University from January 2015 to October 2021 were retrospectively analyzed, and their basic characteristics, laboratory results and treatment were analyzed. Results The absolute value of white blood cell, neutrophil ratio, absolute value of neutrophil, inflammatory index, liver and kidney function, coagulation function, cardiac enzymology, lactic acid and sequential organ failure evaluation score of patients with community acquired pneumonia sepsis in the non-survival group were higher than those in the survival group. Logistic regression analysis showed that respiratory rate, heart rate, mean arterial pressure, blood oxygen saturation, C-reactive protein, D-dimer, lactic acid, creatinine and lymphocyte ratio may be independent risk factors for 28-day death in patients with community-acquired pneumonia and sepsis.The receiver operating characteristic curve shows that the combination of the above indicators to predict the risk of death of patients has the best sensitivity, specificity and maximum area under the curve, which is superior to the prediction value of individual variables. Conclusions Patients in the non-survivor group of community-acquired pneumonia sepsis had more severe inflammatory response and organ function impairment. Respiratory rate, heart rate, mean arterial pressure, blood oxygen saturation, C-reactive protein, D-dimer, lactic acid, creatinine, lymphocyte ratio and other indicators are independent risk factors for death of patients with community-acquired pneumonia and sepsis, which have better prognostic value when combined.
Objective To explore clinical features and risk factors of antineutrophil cytoplasmic antibody-associated vasculitis (AAV) patients with pulmonary involvement. Methods A retrospectively study of clinical data of 113 AAV patients with pulmonary involvement was conducted in the First Affiliated Hospital of Soochow University from January 2015 to December 2020. The differences in general characteristics, treatment and prognosis of different types of AAV with pulmonary involvement were compared. In addition, the clinical characteristics and survival status between the pulmonary involvement group and the non-pulmonary involvement group (n=69) were analyzed. Multivariate logistic regression model was used to analyze the risk factors. Results A total of 113 patients (57 males and 56 females) of AAV with pulmonary involvement were enrolled, including 86 cases of microscopic polyangiitis (MPA), 21 cases of granulomatosis polyangiitis (GPA), 6 cases of eosinophilia granulomatosis (EGPA). The average age was (67±11) years old. There was no significant difference in the age and gender distribution. The clinical manifestations were non-specific. Interstitial lung disease was common imaging feature of MPA, multiple nodules or mass was common in GPA, the incidence of sinusitis in EGPA was significantly higher (P<0.05). Seventy-three patients were complicated with extrapulmonary involvement. The most common organ involved was the kidney, followed by the cardiovascular and nervous system. The most important organs involved in MPA, EGPA and GPA were kidney, heart, and ear, nose, throat respectively. Compared with the non-pulmonary involvement group, the proportions of Birmingham vasculitis activity score (BVAS) ≥15 points, higher antineutrophil cytoplasmic antibody titer and lower complement C3 or C4, pulmonary infection, mechanical ventilation and plasmapheresis in the pulmonary involvement group were significantly higher (P<0.05). Forty patients died during the follow-up. One-year cumulative survival was further calculated using the Kaplan-Meier method, which demonstrated that pulmonary involvement was a risk factor for higher mortality in AAV patients. Compared with the survival group, the proportions of coronary heart disease, multiple organs involvement (n≥3), BVAS≥15 points, serum creatinine≥500 μmol/L, hemoglobin≤90 g/L, C-reactive protein≥10 mg/L, pulmonary infection, requiring mechanical ventilation, continuous renal replacement therapy and plasmapheresis in the death group were significantly higher (P<0.05). Conclusions AAV with pulmonary involvement is more common in the elderly, the morbidity is similar between male and female, and the clinical manifestations are usually non-specific. The chest imaging manifestations are mainly pulmonary interstitial changes, multiple nodules and masses. Multiple organs involvement occurs more often. BVAS≥15 points is independent risk factor for pulmonary involvement in AAV patients. The prognosis of AAV patients with pulmonary involvement is relatively poor. Combined with coronary heart disease, pulmonary infection and CRP≥10 mg/L are independent risk factors of poor prognosis.
ObjectiveTo study the clinical features, short-term prognosis and risk factors of Pseudomonas Aeruginosa (P.aeruginosa) infection in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). MethodsThis study enrolled patients hospitalized for AECOPD in ten tertiary hospitals of China from September 2017 to July 2021. AECOPD patients with P.aeruginosa infection were included as case group, AECOPD patients without P.aeruginosa infection were randomly selected as control group from the same hospitals and same hospitalization period as the patients in case group, at a ratio of 2∶1. The differences in basic conditions, complications, clinical manifestations on admission and in-hospital prognosis between the two groups were compared, and the risk factors of P.aeruginosa infection were analyzed. ResultsA total of 14007 inpatients with AECOPD were included in this study, and 338 patients were confirmed to have P.aeruginosa infection during hospitalization, with an incidence rate of 2.41%. The in-hospital prognosis of AECOPD patients with P.aeruginosa infection was worse than that of the control group, which was manifested in higher hospital mortality (4.4% vs. 1.9%, P=0.02) and longer hospital stay [13.0 (9.0, 19.25)d vs. 11.0 (8.0, 15.0)d, P=0.002]. In terms of clinical features, the proportions of patients with cough, expectoration, purulent sputum, dyspnea in the case group were higher than those in the control group, and the inflammatory indicators (neutrophil ratio, erythrocyte sedimentation rate) and partial pressure of carbon dioxide in arterial blood gas were higher than those in the control group, while the serum albumin was significantly lower than that in the control group (all P<0.05). Multivariate logistic regression analysis showed that Parkinson's disease [odds ratio (OR)=5.14, 95% confidence interval (CI): 1.43 to 18.49, P=0.012], bronchiectasis (OR=4.97, 95%CI: 3.70 to 6.67, P<0.001), invasive mechanical ventilation (OR=2.03, 95%CI: 1.23 to 3.36, P=0.006), serum albumin<35 g/L (OR=1.40, 95%CI: 1.04 to 1.88, P=0.026), partial pressure of carbon dioxide ≥45 mm Hg (OR=1.38, 95%CI: 1.01 to 1.90, P=0.046) were independent risk factors for P.aeruginosa infection in AECOPD patients. ConclusionsP.aeruginosa infection has a relative high morbidity and poor outcome among AECOPD inpatients. Parkinson’s disease, bronchiectasis, invasive mechanical ventilation, serum albumin below 35 g/L, partial pressure of carbon dioxide ≥45 mm Hg are independent risk factors of P.aeruginosa infection in AECOPD inpatients.
Objective To investigate and analyze the clinical features of primary pulmonary malignant melanoma. Methods The medical records, imaging examinations, pathological results, treatment and prognosis of four primary pulmonary malignant melanoma (PMML) patients were retrospectively collected. In combination with 96 cases reported in the literature, a total of 100 patients with PMML were analyzed. Results Among the 100 PMML patients, there were 60 males (60.0%) and 40 females (40.0%), with an average age of 56.9±10.3 years. Common clinical symptoms were cough (60.0%), chest tightness or pain (18.0%), hemoptysis (16.0%), and dyspnea (11.0%). Distant metastasis was found in 30 cases (30.0%) at the time of consultation. The clinical stage of the first diagnosis and evaluation of the patients was stage Ⅰ in 7 cases (7.0%), stage Ⅱ in 24 cases (24.0%), stage Ⅲ in 13 cases (13.0%), stage Ⅳ in 39 cases (39.0%), and 17 cases (17.0%) did not mention a clear tumor stage. Thirty patients (30.0%) received comprehensive anti-tumor therapy, 53 patients (53.0%) received surgical resection, and 17 patients among them (17.0%) received postoperative adjuvant comprehensive therapy. The overall median survival time of PMML patients was 8.0 (2.0 - 14.4) months. The median survival time of stage Ⅳ PMML patients was 5.0 (3.1 - 6.9) months, which was significantly lower than 24.0 (6.0 - 32.0) months of stage Ⅱ patients (P<0.05) and 15.0 (0.6 - 29.4) months of stage Ⅲ patients (P<0.05). Further analysis showed that different treatment regimens had no significant effect on the median survival time of patients with stage Ⅳ PMML (P>0.05). Conclusions PMML has a high degree of malignancy and no specific clinical symptoms. It is mainly diagnosed by pathology. Surgical resection, postoperative adjuvant chemoradiotherapy or immunotherapy are the main treatment methods, but its overall prognosis is poor.