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A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

《医学前沿（英文）》 2023年 第17卷 第2期   页码 330-338 doi: 10.1007/s11684-022-0933-2

摘要： Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients’ hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

关键词： Clouston syndrome     whole exome sequencing     GJB6 gene     novel variant     unique phenotype    

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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

摘要： To present the clinical characteristics and the misdiagnosis rate of acute coronary syndrome manifested primarily as throat discomfort, we conducted a multicentric and retrospective study in the cardiology and otorhinolaryngology departments. Records of patients with primary complaint of throat discomfort, absence of chest pain at onset, and an ultimate diagnosis of acute coronary syndrome, as well as patients with pharyngitis (as controls) were collected from May 2015 to April 2016. The patients’ main manifestations were compared. Logistic regression results showed that chest tightness, dyspnea, perspiring, and exertional throat symptoms were significantly associated with acute coronary syndrome, with odds ratios of 8.3 (95% CI 2.2−31.5), 10.9 (95% CI 1.8−66.9), 25.4 (95% CI 3.6−179.9), and 81.2 (95% CI 13.0−506.7). A total of 25 (56.82%) out of 44 acute coronary syndrome patients, who were first admitted to the otorhinolaryngology department, were misdiagnosed, with a 12% (3/25) mortality rate. Throat discomfort can be the principal manifestation of acute coronary syndrome. Such patients exhibit high misdiagnosis and mortality rates. Exertional throat symptoms, chest tightness, perspiring, and dyspnea were important indicators of acute coronary syndrome in patients whose main complaint was throat discomfort. The awareness of this condition will result in prompt diagnosis and reduce morbidity and mortality.

关键词： acute coronary syndrome (ACS)     throat discomfort (TD)     throat pain     cardiology departments     non-cardiologic physicians    

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Aneurysmal dilatation of the aortic sinuses of Valsalva — beyond Marfan syndrome: a single centre experience

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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

摘要：

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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Lung transplantation for bronchiolitis obliterans syndrome after allogenic hematopoietic stem cell transplantation

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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

摘要：

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)    

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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

摘要：

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    

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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

摘要：

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.

关键词： Cushing’s syndrome     pregnancy     adrenocortical adenoma    

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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

摘要： The aim of the present research is to study the mechanism of cervical nerve compression syndrome of the external intervertebral foramen and its differential diagnosis with cervical spondylosis. Diagnostic treatment with muscle relaxant, vasodilator, neurotrophic medicine and celecoxib (COX)-2 inhibitor were performed in 20 patients with cervical nerve compression syndrome of the external intervertebral foramen and 20 patients with cervical spondylosis confirmed by operation. Diagnostic local block therapy was performed additionally in cases showing little effect after diagnostic treatment. All the patients were followed up postoperatively for more than one year. Fifteen cases with cervical nerve compression syndrome of the external intervertebral foramen were healed by the diagnostic treatment. The other five cases had a short-term remission and there was no recurrence after diagnostic local block therapy. Diagnostic treatment led to short-term alleviation of the symptom in 20 cases with cervical spondylosis confirmed by operation, the results of which was far from satisfactory and operation was undertaken finally in all the 20 cases. The etiology of cervical nerve compression syndrome of the external intervertebral foramen lies in the compression of the cervical plexus, brachial plexus and cervical dorsal rami by the tendinous decussating fibers of the scalenus anticus, medius, minimus and the posterior muscles of the neck. Diagnostic treatment was propitious to differentiate cervical nerve compression syndrome of the external intervertebral foramen from cervical spondylosis.

关键词： satisfactory     COX     minimus     operation     compression syndrome    

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Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always

null

《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

摘要：

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    

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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

摘要：

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.

关键词： coronavirus     MERS     Middle East respiratory syndrome    

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Zinc homeostasis in the metabolic syndrome and diabetes

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《医学前沿（英文）》 2013年 第7卷 第1期   页码 31-52 doi: 10.1007/s11684-013-0251-9

摘要：

Zinc (Zn) is an essential mineral that is required for various cellular functions. Zn dyshomeostasis always is related to certain disorders such as metabolic syndrome, diabetes and diabetic complications. The associations of Zn with metabolic syndrome, diabetes and diabetic complications, thus, stem from the multiple roles of Zn: (1) a constructive component of many important enzymes or proteins, (2) a requirement for insulin storage and secretion, (3) a direct or indirect antioxidant action, and (4) an insulin-like action. However, whether there is a clear cause-and-effect relationship of Zn with metabolic syndrome, diabetes, or diabetic complications remains unclear. In fact, it is known that Zn deficiency is a common phenomenon in diabetic patients. Chronic low intake of Zn was associated with the increased risk of diabetes and diabetes also impairs Zn metabolism. Theoretically Zn supplementation should prevent the metabolic syndrome, diabetes, and diabetic complications; however, limited available data are not always supportive of the above notion. Therefore, this review has tried to summarize these pieces of available information, possible mechanisms by which Zn prevents the metabolic syndrome, diabetes, and diabetic complications. In the final part, what are the current issues for Zn supplementation were also discussed.

关键词： zinc     zinc transporters     metallothionein     diabetes     diabetic complications     insulin resistance     antioxidant    

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Anterior cervical surgery methods for central cord syndrome without radiographic spinal fracture-dislocation

Chengwei JING, Qin FU, Xiaojun XU

《医学前沿（英文）》 2009年 第3卷 第1期   页码 45-48 doi: 10.1007/s11684-009-0019-4

摘要： This study was aimed to explore the anterior cervical surgery methods to treat central cord syndrome without radiographic spinal fracture-dislocation (CCSWORFD), retrospectively analyze the cases of CCSWORFD, and evaluate the curative effect of anterior cervical surgery methods for CCSWORFD. Twenty four cases of CCSWORFD (19 males and 5 females), all suffering from cervical hyperextension injury, between 45-68 (average 59) years old, were operated on by anterior cervical surgery methods. Among these, 18 cases had been followed up for 6-24 (average 15) months; 18 cases, who had anterior decompression and plate fixation with titanium mesh bone grafting or iliac bone grafting achieved reliable effects based on the Japanese Orthopedics Association (JOA) evaluation (improved scores of cases with titanium mesh bone grafting, = 2.800, <0.05; improved scores of cases with iliac bone grafting, = 3.270, <0.05), and reliable reconstruction of cervical spine. The two groups obtained the same curative effect ( = 0.470, >0.05) Most of these cases had degeneration of cervical vertebra. The decompression which relieves the oppression to the spinal cord can help lessen edema of the spinal cord, and early fixation for stability of cervical vertebra is better for the recovery of spinal cord injury. Anterior operation with titanium mesh bone grafting or iliac bone grafting are both reliable curative methods for CCSWORFD, and titanium mesh bone grafting can avoid the trauma of the supplying graft. Mesh bone grafting can also shorten hospital stay.

关键词： central cord syndrome     decompression     surgical     titanium mesh    

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A pilot study on Paxlovid therapy for hemodialysis patients with severe acute respiratory syndrome coronavirus

《医学前沿（英文）》 doi: 10.1007/s11684-023-1011-0

摘要： We aimed to investigate the safety and efficacy of nirmatrelvir/ritonavir (Paxlovid) therapy for hemodialysis-dependent patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Thirteen hemodialysis patients infected with the Omicron variant of SARS-CoV-2 from April 3 to May 30, 2022, were recruited. Laboratory parameters and chest CT (computed tomography) imaging were analyzed. The treatment group included six patients who received 150 mg/100 mg of Paxlovid orally once daily for 5 days, whereas the control group included seven patients who received basic treatment. No serious adverse reactions or safety events were recorded. Four control patients progressed to moderate disease, and none in the treatment group showed progression of chest CT findings (P < 0.05). Paxlovid therapy tended toward early viral clearance and low viral load on Day 8. Moreover, 83.3% of the patients in the treatment group and 57.1% of the patients in the control group turned negative within 22 days. In the Paxlovid treatment group, we found significantly increased levels of lymphocytes (P=0.03) and eosinophils (P=0.02) and decreased levels of D-dimer on Day 8 compared with those on Day 1. Paxlovid therapy showed a potential therapeutic effect with good tolerance in hemodialysis patients. The optimal dose and effectiveness evaluation must be further investigated in a largeer cohort.

关键词： Paxlovid     hemodialysis     SARS-CoV-2     viral load     chest CT scan    

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discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader–Willi syndrome

《医学前沿（英文）》 2022年 第16卷 第6期   页码 946-956 doi: 10.1007/s11684-022-0962-x

摘要： Prader–Willi syndrome (PWS) is a rare congenital disease with genetic alterations in chromosome 15. Although genetic disorders and DNA methylation abnormalities involved in PWS have been investigated to a significant degree, other anomalies such as those in erythrocytes may occur and these have not been clearly elucidated. In the present study, we uncovered slight anemia in children with PWS that was associated with increased red blood cell (RBC) distribution width (RDW) and contrarily reduced hematocrit (HCT) values. Intriguingly, the increased ratio in RDW to HCT allowed sufficient differentiation between the PWS patients from the healthy controls and, importantly, with individuals exhibiting conventional obesity. Further morphologic examinations revealed a significant deformity in erythrocytes and mild hemolysis in PWS patients. Comprehensive mechanistic investigations unveiled compromised membrane skeletal assembly and membrane lipid composition, and revealed a reduced F-actin/G-actin ratio in PWS patients. We ascribed these phenotypic changes in erythrocytes to the observed genetic defects, including DNA methylation abnormalities. Our collective data allowed us to uncover RBC deformation in children with PWS, and this may constitute an auxiliary indicator of PWS in early childhood.

关键词： Prader–Willi syndrome     early diagnosis     erythrocyte deformation     membrane skeleton     membrane lipid    

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Clinical laboratory features of Meigs’ syndrome: a retrospective study from 2009 to 2018

Wenwen Shang, Lei Wu, Rui Xu, Xian Chen, Shasha Yao, Peijun Huang, Fang Wang

《医学前沿（英文）》 2021年 第15卷 第1期   页码 116-124 doi: 10.1007/s11684-019-0732-6

摘要： Meigs’ syndrome (MS), a rare complication of benign ovarian tumors, is easily misdiagnosed as ovarian cancer (OC). We retrospectively reviewed the clinical laboratory data of patients diagnosed with MS from 2009 to 2018. Serum carbohydrate antigen 125 and HE4 levels were higher in the MS group than in the ovarian thecoma-fibroma (OTF) and healthy control groups (all <0.05). However, the serum HE4 levels were lower in the MS group than in the OC group ( <0.001). A routine blood test showed that the absolute counts and percentages of lymphocytes were significantly lower in the MS group than in the OTF and control groups (all <0.05). However, these variables were higher in the MS group than in the OC group (both <0.05). The neutrophil-to-lymphocyte ratio (NLR) was also significantly lower, whereas the lymphocyte-to-monocyte ratio was higher in the MS group than in the OC group (both <0.05). The NLR, platelet-to-lymphocyte ratio, and systemic immune index were significantly higher in the MS group than in the OTF and control groups (all <0.05). The hypoxia-inducible factor-1 mRNA levels were also significantly higher, whereas the glucose transporter 1, lactate dehydrogenase, and enolase 1 mRNA levels were lower in peripheral CD4 T cells obtained preoperatively in a patient with MS than those in patients with OTF, patients with OC, and controls (all <0.05). The expression of these four glucose metabolism genes was preferentially restored to normal levels after the tumor resection of MS ( <0.001). These clinical laboratory features can be useful in improving the preoperative diagnostic accuracy of MS.

关键词： Meigs’ syndrome     ovarian thecoma-fibroma     NLR (neutrophil to lymphocyte ratio)     CD4+ T cells     glucose metabolism    

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Association between history of abortion and metabolic syndrome in middle-aged and elderly Chinese women

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《医学前沿（英文）》 2013年 第7卷 第1期   页码 132-137 doi: 10.1007/s11684-013-0250-x

摘要：

Epidemiologic studies have suggested that abortion may cause long term health consequences such as cardiovascular disease. Until recently, studies focusing on the association between history of abortion and metabolic diseases were limited. In the present study, we aimed to investigate the association between history of abortion and metabolic syndrome (MetS) in middle-aged and elderly Chinese women. A cross-sectional survey was performed in 6302 women (age≥40 years) in Shanghai. Standardized questionnaire was used to obtain the information about reproductive histories. Overall, we observed a positive association between history of induced abortion and the prevalence of MetS, independent of potential confounding factors. A multivariable-adjusted logistic regression analysis revealed that compared to those without a history of induced abortion, women with a history of induced abortion remained at 1.25 times more likely to have MetS (OR=1.25, 95% CI=1.06–1.47, P<0.05), and the association was number-dependent. However, no significant association between history of spontaneous abortion and the prevalence of MetS was observed. Compared to those without a history of spontaneous abortion, the multivariate-adjusted odds ratio associated with a history of spontaneous abortion for MetS was 0.88 (95% CI=0.65–1.19, P >0.05).

关键词： induced abortion     spontaneous abortion     metabolic syndrome    

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标题 作者 时间 类型 操作

A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

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

Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis

null

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

Middle East respiratory syndrome coronavirus: current situation and travel-associated concerns

null

期刊论文

Zinc homeostasis in the metabolic syndrome and diabetes

null

期刊论文

Anterior cervical surgery methods for central cord syndrome without radiographic spinal fracture-dislocation

Chengwei JING, Qin FU, Xiaojun XU

期刊论文

A pilot study on Paxlovid therapy for hemodialysis patients with severe acute respiratory syndrome coronavirus

期刊论文

discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader–Willi syndrome

期刊论文

Clinical laboratory features of Meigs’ syndrome: a retrospective study from 2009 to 2018

Wenwen Shang, Lei Wu, Rui Xu, Xian Chen, Shasha Yao, Peijun Huang, Fang Wang

期刊论文

Association between history of abortion and metabolic syndrome in middle-aged and elderly Chinese women

null

期刊论文