Latest Issue
Volume 31 ， Issue 1 ， 2016
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Abstract：Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy (RCM) in a Chinese family. Methods Next generation sequencing was used for detecting the mutation and results verified by sequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelated normal subjects without any cardiac inherited diseases when the mutation was identified. Results Five individuals died from cardiac diseases, two of whom suffered from sudden cardiac death. Two individuals have suffered from chronic cardiac disorders. Mutation analysis revealed a novel missense mutation in exon 7 of troponin I type 3 (TNNI3), resulting in substitution of serine (S) with proline (P) at amino acid position 150, which cosegregated with the disease in the family, which is predicted to be probably damaging using PolyPhen-2. The mutation was not detected in the 200 unrelated subjects we tested. Conclusion Using next generation sequencing, which has very recently been shown to be successful in identifying novel causative mutations of rare Mendelian disorders, we found a novel mutation of TNNI3 in a Chinese family with RCM.Keywords：restrictive cardiomyopathy;autosomal dominant;troponin I2|786|2Updated：2024-04-10 -
Abstract：Objective To investigate the relationship between geranylgeranyl pyrophosphate synthase (GGPPS) gene polymorphisms and bone response to alendronate in Chinese osteoporotic women. Methods A total of 639 postmenopausal women with osteoporosis or osteopenia were included and randomly received treatment of low dose (70 mg per two weeks) or standard dose (70 mg weekly) of alendronate for one year. The six tag single nucleotide polymorphisms of GGPPS gene were identified. Bone mineral density (BMD), serum cross-linked C-telopeptide of type I collagen (β-CTX), and total alkaline phosphatase (ALP) were measured before and after treatment. GGPPS gene polymorphisms and the changes of BMD and bone turnover markers after treatment were analyzed. Results rs10925503 polymorphism of GGPPS gene was correlated to serum β-CTX levels at baseline, and patients with TT genotype had significantly higher serum β-CTX level than those with TC or CC genotype (all P<0.05). No correlation was found between polymorphisms of GGPPS gene and serum total ALP levels, as well as BMD at baseline. After 12 months of treatment, lumbar spine and hip BMD increased and serum bone turnover markers decreased significantly (P<0.01), and without obvious differences between the low dose and standard dose groups (all P>0.05). However, GGPPS gene polymorphisms were uncorrelated to percentage changes of BMD, serum total ALP, and β-CTX levels (all P>0.05). Conclusion GGPPS gene polymorphisms are correlated to osteoclasts activity, but all tag single nucleotide polymorphisms of GGPPS gene have no influence on the skeletal response to alendronate treatment.Keywords：geranylgeranyl pyrophosphate synthase;tag single nucleotide polymorphisms;osteoporosis;alendronate2|2|0Updated：2024-04-10 - Abstract：Objectives To investigate the positive rate of different hepatitis B virus (HBV) serological markers, and the demographic factors related to HBV infection.Methods We enrolled all patients tested for HBV serological markers, such as HBV surface antigen (HBsAg), HBV surface antibody (HBsAb), hepatitis B e antigen (HBeAg), hepatitis B e antibody (HBeAb), HBV core antibody (HBcAb), and HBV-DNA from July 2008 to July 2009 in Peking Union Medical College Hospital. The positive rate of each HBV serological marker was calculated according to gender, age, and de- partment, respectively. The positive rates of HBV-DNA among patients with positive HBsAg were also analyzed.Results Among 27 409 samples included, 2681 (9.8%) were HBsAg positive. When patients were divided into 9 age groups, the age-specific positive rate of HBsAg was 1.2%, 9.6%, 12.3%, 10.9%, 10.3%, 9.7%, 8.0%, 5.8%, and 4.3%, respectively. The positive rate of HBsAg in non-surgical department, surgical department, and health examination center was 16.2%,5.8%,and 4.7%, respectively. The positive rate of HBsAg of males (13.3%) was higher than that of females (7.3%, P=0.000). Among the 2681 HBsAg (+) patients, 1230 (45.9%) had HBV-DNA test, of whom 564 (45.9%) were positive. Patients with HBsAg (+), HBeAg (+), and HBcAg (+) result usually had high positive rate of HBV-DNA results (71.8%, P=0.000).Conclusions Among this group of patients in our hospital, the positive rate of HBsAg was relatively high. Age group of 20-29, males, and patients in non-surgical departments were factors associated with high positive rate of HBsAg.Keywords：hepatitis B virus infection;positive rate;hepatitis B virus serological markers;demographic factors2|725|0Updated：2024-04-10
- Abstract：Objective To establish albumin-creatinine ratio (ACR) reference value of the rural population in Hebei province. Methods This study enrolled 5154 participants. By excluding subjects with hypertension, diabetes, dyslipidemia, cardiovascular and cerebrovascular diseases, kidney diseases, and overweight condition, as well as those with an estimated glomerular filtration rate (eGFR)<60 ml/(min·1.73 m2), apparently healthy subjects (1168) were selected. Urine albumin was measured by using the immunoturbidimetic method, serum creatinine was measured by using Jaffe’s kinetic method on a morning spot-urine sample, and ACR was calculated. The 95th percentile of ACR in the healthy subjects was used as the normal upper limit. Results The normal upper limit of ACR was 28.71 mg/g (3.25 mg/mmol) for males and 31.85 mg/g (3.60 mg/mmol) for females. Based on this ACR reference value, the age-gender standardized prevalence of albuminuria in the rural areas of Hebei province was 12.9%. Conclusion The ACR reference value in the rural of Hebei province is higher than that of the Western population.Keywords：albumin-creatinine ratio;albuminuria;chronic kidney disease2|5|0Updated：2024-04-10
- Abstract：Objective To explore the influence factors in hematoma formation after removing benign breast lesions with an ultrasound-guided vacuum-assisted system. Methods A total of 232 females with 312 benign breast masses received excisional biopsy with ultrasound- guided vacuum-assisted system. The pathology of patients, results of hematoma development and outcome, influence factors for hematoma occurrence (nodule size, nodule location, number of nodule, breast shape, menstrual period, efficacy time of bandage, and application of hemostatic agents during the procedure) were recorded. Results Pathologic examination revealed fibroadenomas in 138 lesions, fibroadenosis in 127 lesions, intraductal papillomas in 39 lesions, inflammatory change in 4 lesions, retention cyst of the breast in 3 lesions, and benign phyllodes tumor in 1 lesion. Thirty hematomas were observed in patients (9.6%). Finally, 97.0% hematomas were absorbed completely within 6 months follow-up. The incidence rates of hematoma were increased by 24.7%, 10.0%, 63.2%, 13.9% in the nodule diameter larger or equal to 25 mm group, removal of larger or equal to two nodules once time from one patient group, menstrual period group, and larger and loose breast group, respectively (all P<0.05). However, the incidences were decreased by 60.6% in the bandage performed for 12-24 hours or beyond 24 hours group (P<0.05). The multiple logistic regression models revealed that nodule size (χ2=15.227, P<0.001), number of nodule (χ2=7.767, P=0.005), menstrual period (χ2=24.530, P<0.001), and breast shape (χ2=9.559, P=0.002) were independent risk factors associated with hematoma occurrence, but efficacy time of bandage was a protective factor associated with hematoma occurrence. Conclusion The occurrence of hematoma after the minimally invasive operation was associated with nodule size, number of nodule, menstrual period, breast shape, and efficacy time of bandage.Keywords：benign breast lesion;ultrasound-guided vacuum-assisted system;hematoma;influence factor2|611|1Updated：2024-04-10
- Abstract：Objective To investigate the respiratory and cardiac characteristics of elderly Intensive Care Unit (ICU) patients.Methods Twelve senior ICU patients aged 90 years and older were enrolled in this study. We retrospectively collected all patients’ clinical data through medical record review. The basic demographics, primary cause for admission, the condition of respiratory and circulatory support, as well as prognosis were recorded. Shock patients and pneumonia patients were specifically analyzed in terms of clinical manifestations, laboratory variables, echocardiography, and lung ultrasound results.Results The mean age of the included patients was 95 years with a male predominance (8 to 4, 66.7%). Regarding the reasons for admission, 6 (50.0%) patients had respiratory failure, 1 (8.3%) patient had shock, while 5 (41.7%) patients had both respiratory failure and shock. Of the 6 patients who suffered from shock, only 1 was diagnosed with distributive shock, 5 with cardiogenic shock. Of the 5 cardiogenic shock patients, 1 was diagnosed with acute coronary syndrome. The rest 4 cardiogenic shock patients were diagnosed with Takotsubo cardiomyopathy. The patient with ST-segment elevation myocardial infarction died within 24 hours. Of the 4 Takotsubo patients, 1 died on day-6 and the other 3 patients were transferred to ward after heart function recovered in 1 to 2 weeks. Of the 10 pneumonia patients, 3 were diagnosed as community acquired pneumonia, and 7 as hospital acquired pneumonia. Only 3 patients were successfully weaned from ventilator. The others required long-term ventilation complicated with heart failure, mostly with diastolic heart failure. Lung ultrasound of 6 patients with diastolic dysfunction showed bilateral B-lines during spontaneous breathing trial.Conclusions Elderly patients in shock tend to develop Takotsubo cardiomyopathy. Diastolic heartKeywords：elderly patients;respiratory failure;shock;Takotsubo;diastolic heart failure2|736|0Updated：2024-04-10
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Abstract：Objective To evaluate the role of multidetector computed tomography-angiography (MDCTA) for management of life-threatening spontaneous retroperitoneal haemorrhage (SRH). Methods A retrospective analysis of the medical records of all SRH patients admitted to our hospital from January 1, 2005 to November 31, 2014 was performed. SRH was defined as unrelated to invasive procedures, surgery, trauma, abdominal tumor or aortic aneurysm. Life-threatening SRH was defined as hemodynamic instability with hypotension. Sixteen cases met the inclusive criteria. Patients’ characteristics, clinical presentation, imaging of MDCTA, treatment modalities, morbidity, and follow-up data were analyzed. Results The group of 16 patients included 11 men and 5 women, with a mean age of 51.5±16.4 years. All patients underwent MDCTA scan examinations, and active contrast media (CM) extravasation were found in 9 patients. Angiography was performed for 8 patients in the CM extravasation group. Bleeding vessels were found in 7 patients who underwent successful embolization. One patient in the CM extravasation group did not undergo angiography and died of bleeding. Seven patients without active CM extravasation underwent conservative management. Bleeding was controlled for all these 7 patients, and 1 patient died of multiple organ failure. Fourteen patients survived from SRH were successfully discharged. One patient died of heart failure during follow-up. Conclusion MDCTA was useful in the diagnosis of SRH and proved to be predictive for the outcome of conservative treatment and early intervention.Keywords：spontaneous retroperitoneal haemorrhage;endovascular embolization;contrast enhanced computed tomography2|809|0Updated：2024-04-10 - Abstract：Objective To analyze the risk factors causing postoperative urosepsis in ureter endoscopic lithotripsy without infection preoperatively, in order to make a more effective and safer preventive and therapeutic strategy. Methods From January 2010 to January 2015, 5 ureteral calculus patients undergoing ureter endoscopic lithotripsy with holmium laser were retrospectively enrolled in this clinical study. These patients suffered urosepsis postoperatively confirmed by the clinical presentations and laboratory results, while they had no infection in their blood and urine preoperatively. Without delay, 5 patients were treated by anti-inflammation and anti-shock. Results The vasopressor drug was stopped gradually after 12-36 hours. The body temperature was recovered to normal in 2 or 3 days, and the blood and urine test results were not abnormal in 7 days. At last, 5 patients were all cured. Conclusions Stone and operation themselves are potential factors to cause urosepsis after ureter endoscopic lithotripsy. Especially for patients who had not presented infection preoperatively, careful preparation preoperatively, corrective manipulation, low pressure irrigation, drainage and controlling time during operation, and early diagnosis, appropriate treatment postoperatively are the key to cure and prevent urosepsis.Keywords：lithotripsy;non-infection;ureter;urosepsis4|1444|2Updated：2024-04-10
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Abstract：PAPILLARY thyroid carcinoma (PTC) is the most common thyroid cancer and consists of nearly 80% of all cases of thyroid cancer.1 It is asso- ciated with the lowest level of malignancy and an excellent prognosis. Primary thyroid lymphoma (PTL) is a lymphomatous process which develops in the thyroid without involvement of primary lymphoid organs or distant metastases at diagnosis.2 It is a rare malignancy that accounts for 1%-5% of all thyroid malignancies and less than 2% of all extranodal lymphomas. The incidence of PTL is one or two cases per million.2, 3 It occurs frequently in elder woman, with a peak incidence in the sixth decade of life.2, 4, 5 Common clinical feature of PTL is rapidly growing mass in the neck. Diffuse large B-cell lymphoma (DLBCL) is the most common histological subtype of PTL, comprising up to 70% of cases, followed by mucosa-associated lymphoid tissue (MALT) lymphoma, comprising 10% to 23% of PTL.4-6 Other subtypes such as follicular lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma, Hodgkin’s lymphoma, and Burkitt’s lymphoma are comparatively rare. To our knowledge, the co-occurrence of PTL and PTC is extremely rare, and only 12 cases have been previously reported.7-15 We report a sonographically suspected PTL case who was pathologically diagnosed with PTL and PTC.Keywords：ultrasonography;primary thyroid lymphoma;papillary thyroid carcinoma;coexistence;diffuse large B-cell lymphoma2|2|0Updated：2024-04-10 - Abstract：POLYNEUROPATHY, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome characterized by the presence of a monoclonal plasma cell disorder, peripheral neuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and typical skin abnormalities. The cause of POEMS syndrome is unknown.1 Although numerous cases with POEMS syndrome have been reported, the POEMS syndrome patients with malignant tumor were seldom reported. Here, we present a rare case with breast cancer accompanied by POEMS syndrome.Keywords：polyneuropathy;organomegaly;endocrinopathy;monoclonal gammopathy;skin changes syndrome;breast cancer2|780|0Updated：2024-04-10
- Abstract：Long-chain acyl coenzyme A synthetase (ACSL) is a member of the synthetase family encoded by a multigene family; it plays an important role in the absorption and transport of fatty acid. Here we review the roles of ACSL in the regulating absorption and transport of fatty acid, as well as the connection between ACSL and some metabolic diseases.Keywords：long-chain;acyl;coenzyme5|1413|0Updated：2024-04-10
- Abstract：In recent years, increasingly evidences show that autophagy plays an important role in the pathogenesis and development of liver diseases, and the relationship between them has increasingly become a focus of concern. Autophagy refers to the process through which the impaired organelles, misfolded protein, and intruding microorganisms is degraded by lysosomes to maintain stability inside cells. This article states the effect of autophagy on liver diseases (hepatic fibrosis, fatty liver, viral hepatitis, and liver cancer), which aims to provide a new direction for the treatment of liver diseases.Keywords：autophagy;hepatic fibrosis;fatty liver;viral hepatitis;liver cancer4|1712|0Updated：2024-04-10
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