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Qiqi Zhao, Xin Gao, Guangli Yan, Aihua Zhang, Hui Sun, Ying Han, Wenxiu Li, Liang Liu, Xijun Wang
《医学前沿(英文)》 2020年 第14卷 第3期 页码 335-356 doi: 10.1007/s11684-019-0705-9
关键词: traditional Chinese medicine Sijunzi decoction spleen qi deficiency syndrome Chinmedomics quality-marker
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism:
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《医学前沿(英文)》 2018年 第12卷 第3期 页码 319-323 doi: 10.1007/s11684-017-0553-4
Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in and lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of and were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant c.572_574delAGA in . This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the and gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.
关键词: antithrombin deficiency protein C activity mutation variant venous thromboembolism anticoagulants
Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice
《医学前沿(英文)》 页码 957-971 doi: 10.1007/s11684-023-0988-8
关键词: DNAH10 mice motile cilia mutation primary ciliary dyskinesia
Heng Fang, Aihua Zhang, Xiaohang Zhou, Jingbo Yu, Qi Song, Xijun Wang
《医学前沿(英文)》 2020年 第14卷 第5期 页码 651-663 doi: 10.1007/s11684-019-0709-5
关键词: metabolomics liquid chromatography-mass spectrometry metabolites metabolic pathways
Prevalence of vitamin D deficiency in girls with idiopathic central precocious puberty
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《医学前沿(英文)》 2018年 第12卷 第2期 页码 174-181 doi: 10.1007/s11684-017-0544-5
The relationship between vitamin D deficiency and idiopathic central precocious puberty (ICPP) has been recently documented. In this study, 280 girls diagnosed with ICPP and 188 normal puberty control girls of similar ages were enrolled and retrospectively studied. The ICPP group had significantly lower serum 25-hydroxyvitamin D (25[OH]D) levels than the control group. Furthermore, a nonlinear relationship was found between serum 25[OH]D and ICPP, and a cut-off point for serum 25[OH]D was found at 31.8 ng/ml for ICPP with and without adjusting the different confounding factors. Girls with serum 25[OH]D≥31.8 ng/ml had a lower odds ratio (unadjusted: OR 0.36, 95% CI 0.15 to 0.83, <0.05; height and weight adjusted: OR 0.44, 95% CI 0.18 to 1.08, = 0.072; BMI adjusted: OR 0.36, 95% CI 0.16 to 0.84, <0.05). The ICPP subjects with 25[OH]D deficiency had a higher body mass index (BMI) than the subjects from the two other subgroups. Correlation analysis showed that vitamin D level is correlated with BMI and some metabolic parameters in the ICPP group. Our study suggested that vitamin D status may be associated with ICPP risk and may have a threshold effect on ICPP.
关键词: idiopathic central precocious puberty threshold effects vitamin D status
《医学前沿(英文)》 doi: 10.1007/s11684-023-1001-2
关键词: iron deficiency anemia intravenous iron ferric carboxymaltose iron sucrose Hb response early response
Atypical manifestations of acute coronary syndrome — throat discomfort: a multi-center observational
《医学前沿(英文)》 2022年 第16卷 第4期 页码 651-658 doi: 10.1007/s11684-021-0859-0
关键词: acute coronary syndrome (ACS) throat discomfort (TD) throat pain cardiology departments non-cardiologic physicians
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《医学前沿(英文)》 2014年 第8卷 第4期 页码 419-426 doi: 10.1007/s11684-014-0383-6
Aneurysmal dilatation of the aortic sinuses of Valsalva has been most extensively documented in the setting of aortopathies, particularly Marfan syndrome. On the other hand, there is limited data in the literature about congenital sinus of Valsalva aneurysms outside this context. For the purpose of this review, we carried out a literature search on aneurysmal dilatation of the sinuses of Valsalva in Marfan syndrome, and compared this with congenital sinus of Valsalva aneurysms, also including data from a case series from our institution. In conclusion, there are differences in management of aortic dilatation in Marfan syndrome and congenital sinus of Valsalva aneurysms. Though less well-recognised, congenital aneurysms are often associated with significant morbidity and mortality and timely intervention is necessary.
关键词: sinus of Valsalva aneurysms Marfan syndrome aortic dissection
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《医学前沿(英文)》 2018年 第12卷 第2期 页码 224-228 doi: 10.1007/s11684-017-0538-3
Bronchiolitis obliterans syndrome (BOS) after hematopoietic stem cell transplantation (HSCT) is a major cause of morbidity and mortality with limited treatment options. Lung transplantation (LTX) has been rarely reported as a treatment option for selected HSCT recipients with this problem. In the present study, we reported six patients who underwent LTX due to BOS after HSCT (two females, four males) from January 2012 to December 2014 in our center. The median time from HSCT to diagnosis of BOS was 2.5 years (ranging from 1 to 5 years). At a median time of 4 years (ranging from 2 to 5 years) after diagnosis of BOS, four patients received bilateral sequential LTX, and two patients received single LTX. One of the recipients suffered from mild acute rejection after LTX, another suffered from primary lung graft dysfunction on post-operation day 2, and three experienced fungal infections. The median time for follow-up after LTX was 19.5 months (ranging from 12 to 39 months). At present, all patients are alive with good functional capacity and no relapse of BOS and hematologic malignancy conditions. Patients who received bilateral LTX have better pulmonary functions than patients who received single LTX.
关键词: bronchiolitis obliterans syndrome (BOS) hematopoietic stem cell transplantation (HSCT) lung transplantation (LTX)
Intestinal Epithelial Axin1 Deficiency Protects Against Colitis via Altered Gut Microbiota
Shari Garrett,Yongguo Zhang,Yinglin Xia,Jun Sun,
《工程(英文)》 doi: 10.1016/j.eng.2023.06.007
关键词: Axin1 Bacteria Microbiome inflammation Inflammatory bowel disease Immunity Microbiome Paneth cells Akkermansia muciniphila Wnt
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis
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《医学前沿(英文)》 2017年 第11卷 第3期 页码 333-339 doi: 10.1007/s11684-017-0564-1
Nephrotic syndrome (NS) is one of the most common glomerular diseases with signs of nephrosis, heavy proteinuria, hypoalbuminemia, and edema. Dysfunction of glomerular filtration barrier causes protein loss through the kidneys. Focal segmental glomerulosclerosis (FSGS) accounts for nearly 20% of NS among children and adults. Adult-onset FSGS/NS is often associated with low response to steroid treatment and immunosuppressive medication and poor renal survival. Several genes involved in NS and FSGS have been identified by linkage analysis and next-generation sequencing. Most of these genes encode proteins and are highly expressed in glomerular podocytes, which play crucial roles in slit-diaphragm signaling, regulation of actin cytoskeleton dynamics and maintenance of podocyte integrity, and cell–matrix interactions. In this review, we focus on the recently identified genes in the adult-onset NS and FSGS and discuss clinical significance of screening of these genes.
关键词: nephrotic syndrome focal segmental glomerulosclerosis genetic
Cushing’s syndrome during pregnancy caused by adrenal cortical adenoma: a case report and literature
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《医学前沿(英文)》 2015年 第9卷 第3期 页码 380-383 doi: 10.1007/s11684-015-0407-x
Cushing’s syndrome (CS) during pregnancy is a rare condition with significant maternal and fetal complications. A case of CS during the third trimester of pregnancy secondary to adrenocortical adenoma was reported. Literature review revealed the disadvantages of different treatments in this period. Besides the conservative treatment, surgery is recommended for CS during the third trimester of pregnancy secondary to adrenal adenoma, if an experienced surgeon is available.
Differential diagnosis of cervical nerve compression syndrome of the external intervertebral foramen
WANG Jinwu, NI Weifeng, XU Jianguang, ZHU Haibo, GUO Shangchun, ZENG Bingfang, ZHAO Binghui
《医学前沿(英文)》 2007年 第1卷 第2期 页码 177-180 doi: 10.1007/s11684-007-0033-3
关键词: satisfactory COX minimus operation compression syndrome
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《医学前沿(英文)》 2017年 第11卷 第2期 页码 293-296 doi: 10.1007/s11684-017-0516-9
Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium. Tissue Doppler showed a restrictive filling pattern. Transthyretin (TTR)-associated amyloidosis, which was revealed by abdominal fat-pad biopsy and DNA analysis, explained the concurrence of independent pathological features, including neuropathy and cardiac involvement. Genetic testing identified a G>T mutation in exon 4 of the transthyretin (TTR) gene. This mutation resulted in the alanine-to-serine substitution at amino acid position 117. Moreover, genetic testing confirmed that the patient’s asymptomatic son carried the same amyloidogenic TTR mutation. Given these findings, the diagnosis of familial amyloid cardiomyopathy, which was misdiagnosed as chronic Guillain-Barre syndrome, was proposed.
关键词: transthyretin (TTR) cardiac amyloidosis sick sinus syndrome chronic Guillain-Barre syndrome
Middle East respiratory syndrome coronavirus: current situation and travel-associated concerns
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《医学前沿(英文)》 2016年 第10卷 第2期 页码 111-119 doi: 10.1007/s11684-016-0446-y
The emergence of Middle East respiratory syndrome coronavirus (MERS-CoV) in 2012 brought back memories of the occurrence of severe acute respiratory syndrome coronavirus (SARS-CoV) in 2002. More than 1500 MERS-CoV cases were recorded in 42 months with a case fatality rate (CFR) of 40%. Meanwhile, 8000 cases of SARS-CoV were confirmed in six months with a CFR of 10%. The clinical presentation of MERS-CoV ranges from mild and non-specific presentation to progressive and severe pneumonia. No predictive signs or symptoms exist to differentiate MERS-CoV from community-acquired pneumonia in hospitalized patients. An apparent heterogeneity was observed in transmission. Most MERS-CoV cases were secondary to large outbreaks in healthcare settings. These cases were secondary to community-acquired cases, which may also cause family outbreaks. Travel-associated MERS infection remains low. However, the virus exhibited a clear tendency to cause large outbreaks outside the Arabian Peninsula as exemplified by the outbreak in the Republic of Korea. In this review, we summarize the current knowledge about MERS-CoV and highlight travel-related issues.
标题 作者 时间 类型 操作
Chinmedomics facilitated quality-marker discovery of Sijunzi decoction to treat spleen qi deficiencysyndrome
Qiqi Zhao, Xin Gao, Guangli Yan, Aihua Zhang, Hui Sun, Ying Han, Wenxiu Li, Liang Liu, Xijun Wang
期刊论文
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism:
null
期刊论文
High-throughput metabolomics reveals the perturbed metabolic pathways and biomarkers of Yang Huang syndrome
Heng Fang, Aihua Zhang, Xiaohang Zhou, Jingbo Yu, Qi Song, Xijun Wang
期刊论文
non-inferiority trial of intravenous ferric carboxymaltose versus iron sucrose in patients with iron deficiency
期刊论文
Atypical manifestations of acute coronary syndrome — throat discomfort: a multi-center observational
期刊论文
Aneurysmal dilatation of the aortic sinuses of Valsalva — beyond Marfan syndrome: a single centre experience
null
期刊论文
Lung transplantation for bronchiolitis obliterans syndrome after allogenic hematopoietic stem cell transplantation
null
期刊论文
Intestinal Epithelial Axin1 Deficiency Protects Against Colitis via Altered Gut Microbiota
Shari Garrett,Yongguo Zhang,Yinglin Xia,Jun Sun,
期刊论文
Cushing’s syndrome during pregnancy caused by adrenal cortical adenoma: a case report and literature
null
期刊论文
Differential diagnosis of cervical nerve compression syndrome of the external intervertebral foramen
WANG Jinwu, NI Weifeng, XU Jianguang, ZHU Haibo, GUO Shangchun, ZENG Bingfang, ZHAO Binghui
期刊论文
Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always
null
期刊论文