Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 24
Filter
Add filters








Year range
1.
Chinese Journal of Applied Clinical Pediatrics ; (24): 20-30, 2023.
Article in Chinese | WPRIM | ID: wpr-989986

ABSTRACT

China has classified the Corona Virus Disease 2019(COVID-19) as a statutory category B infectious disease and managed it according to Category B since January 8, 2023.In view that Omicron variant is currently the main epidemic strain in China, in order to guide the treatment of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection in children with the times, refer to the Diagnosis and Treatment Protocol for Novel Coronavirus Infection (Trial 10 th Edition), Expert Consensus on Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fourth Edition) and the Diagnosis and Treatment Strategy for Pediatric Related Viral Infections.The Expert Consensus on the Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fifth Edition) has been formulated and updated accordingly on related etiology, epidemiology, pathogenic mechanism, clinical manifestations, auxiliary examination, diagnosis and treatment, and added key points for the treatment of COVID-19 related encephalopathy, fulminating myocarditis and other serious complications for clinical reference.

2.
International Journal of Pediatrics ; (6): 804-808, 2022.
Article in Chinese | WPRIM | ID: wpr-989016

ABSTRACT

Aplastic anemia(AA) is a bone marrow failure disease in which peripheral blood is reduced in two or three lines.Clinically, patients are at high risk of bleeding and infection, which may endanger their lives in serious cases.Due to the great differences in economic conditions, medical conditions and AA epidemiology in various regions around the world, there are many treatment methods for newly diagnosed, refractory / relapsed AA patients and their curative effects are different.Haploidentical hematopoietic stem cell transplantation, eltrombopag and tacrolimus are the research focuses in recent years.To facilitate clinicians to choose more appropriate treatments, this paper reviews the progress of hematopoietic stem cell transplantation therapy and non-transplantation therapy in patients with AA.

3.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1053-1065, 2022.
Article in Chinese | WPRIM | ID: wpr-954690

ABSTRACT

Since December 2019, severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infections have raged globally for more than 2 years.China has always adopted scientific and effective prevention and control measures to achieved some success.However, with the continuous variation of SARS-CoV-2 cases and imported cases from abroad, the prevention and control work has become more difficult and complex.With the variation of the mutant strain, the number of cases in children changed, and some new special symptoms and complications were found, which proposed a new topic for the prevention and treatment of SARS-CoV-2 infection in children in China.Based on the third edition, the present consensus according to the characteristics of the new strain, expounded the etiology, pathology, pathogenesis, and according to the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of effective prevention and treatment of SARS-CoV-2 infection in children in China.

4.
Chinese Journal of Applied Clinical Pediatrics ; (24): 964-973, 2022.
Article in Chinese | WPRIM | ID: wpr-954673

ABSTRACT

Monkeypox is a zoonotic disease.Previous studies have shown that children are vulnerable to monkeypox and are also at high risk for severe disease or complications.In order to improve pediatricians′ understanding of monkeypox and achieve early detection, early diagnosis, early treatment and early disposal, the committee composed of more than 40 experts in the related fields of infectious diseases, pediatrics, infection control and public health formulate this expert consensus, on the basis of the latest clinical management and infection prevention and control for monkeypox released by the World Health Organization (WHO), the guidelines for diagnosis and treatment of monkeypox (version 2022) issued by National Health Commission of the People′s Republic of China and other relevant documents.During the development of this consensus, multidisciplinary experts have repeatedly demonstrated the etiology, epidemiology, transmission, clinical manifestations, laboratory examinations, diagnosis and differential diagnosis, treatment, discharge criteria, prevention, case management process and key points of prevention and control about monkeypox.

5.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1368-1372, 2021.
Article in Chinese | WPRIM | ID: wpr-907971

ABSTRACT

Severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still worldwide.As a vulnerable group, severe and dead pediatric cases are also reported.Under this severe epidemic situation, children should be well protected.With the widespread vaccination of SARS-CoV-2 vaccine in adults, the infection rate have decreased.Therefore, SARS-CoV-2 vaccine inoculation for children groups step by step is of great significance to the protection of children and the prevention and control of corona virus disease 2019(COVID-19) as a whole.But the safety of children vaccinated with SARS-CoV-2 vaccine is a main concern of parents.Therefore, in order to ensure the safety of vaccination and the implementation of vaccination work, National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health and the Society of Pediatrics, Chinese Medical Association organized experts to interpret the main issue of parents about SARS-CoV-2 vaccine for children, in order to answer the doubts of parents.

6.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1361-1367, 2021.
Article in Chinese | WPRIM | ID: wpr-907970

ABSTRACT

At present, severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)infection is still rampant worldwide.As of September 10, 2021, there were about 222 million confirmed cases of corona virus disease 2019(COVID-19)and more than 4.6 million deaths worldwide.With the development of COVID-19 vaccines and the gradual vaccination worldwide, the increasing number of cases in children and unvaccinated young people has drawn attention.According to World Health Organization surveillance data, the proportion of COVID-19 infection cases in children gradually increased, and the proportion of cases in the age groups of under 5 years and 5-14 years increased from 1.0% and 2.5% in January 2020 to 2.0% and 8.7% in July 2021, respectively.At present, billions of adults have been vaccinated with various COVID-19 vaccines worldwide, and their protective effects including reducing infection and transmission, reducing severe disease and hospitalization, and reducing death, as well as high safety have been confirmed.Canada, the United States, Europe and other countries have approved the emergency COVID-19 vaccination in children and adolescents aged 12 to 17 years, and China has also approved the phased vaccination of COVID-19 vaccination in children and adolescents aged 3 to 17 years. For smooth advancement and implementation of COVID-19 vaccination in children, academic institutions, including National Clinical Research Center for Respiratory Diseases, National Center for Children′s Health, and The Society of Pediatrics, Chinese Medical Association organized relevant experts to reach this consensus on COVID-19 vaccination in children.

7.
Chinese Journal of Applied Clinical Pediatrics ; (24): 721-732, 2021.
Article in Chinese | WPRIM | ID: wpr-882907

ABSTRACT

2019 novel coronavirus(2019-nCoV) outbreak is one of the public health emergency of international concern.Since the 2019-nCoV outbreak, China has been adopting strict prevention and control measures, and has achieved remarkable results in the initial stage of prevention and control.However, some imported cases and sporadic regional cases have been found, and even short-term regional epidemics have occurred, indicating that the preventing and control against the epidemic remains grim.With the change of the incidence proportion and the number of cases in children under 18 years old, some new special symptoms and complications have appeared in children patients.In addition, with the occurrence of virus mutation, it has not only attracted attention from all parties, but also proposed a new topic for the prevention and treatment of 2019-nCoV infection in children of China.Based on the second edition, the present consensus further summarizes the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of treatment of 2019-nCoV infection in children.

8.
Chinese Journal of Applied Clinical Pediatrics ; (24): 97-104, 2020.
Article in Chinese | WPRIM | ID: wpr-863984

ABSTRACT

Novel Coronavirus Pneumonia (NCP) is a class B infectious disease, which is prevented and controlled according to class A infectious diseases.Recently, children′s NCP cases have gradually increased, and children′s fever outpatient department has become the first strategic pass to stop the epidemic.Strengthening the management of the fever diagnosis process is very important for early detection of suspected children, early isolation, early treatment and prevention of cross-infection.This article proposes prevention and control strategies for fever diagnosis, optimizes processes, prevents cross-infection, health protection and disinfection of medical staff, based on the relevant diagnosis, treatment, prevention and control programs of the National Health and Health Commission and on the diagnosis and treatment experience of experts in various provinces and cities.The present guidance summarizes current strategies on pre-diagnosis; triage, diagnosis, treatment, and prevention of 2019-nCoV infection in common fever, suspected and confirmed children, which provide practical suggestions on strengthening the management processes of children′s fever in outpatient department during the novel coronavirus pneumonia epidemic period.

9.
Chinese Journal of Applied Clinical Pediatrics ; (24): 97-104, 2020.
Article in Chinese | WPRIM | ID: wpr-811584

ABSTRACT

Novel Coronavirus Pneumonia (NCP) is a class B infectious disease, which is prevented and controlled according to class A infectious diseases. Recently, children′s NCP cases have gradually increased, and children′s fever outpatient department has become the first strategic pass to stop the epidemic. Strengthening the management of the fever diagnosis process is very important for early detection of suspected children, early isolation, early treatment and prevention of cross-infection. This article proposes prevention and control strategies for fever diagnosis, optimizes processes, prevents cross-infection, health protection and disinfection of medical staff, based on the relevant diagnosis, treatment, prevention and control programs of the National Health and Health Commission and on the diagnosis and treatment experience of experts in various provinces and cities. The present guidance summarizes current strategies on pre-diagnosis; triage, diagnosis, treatment, and prevention of 2019-nCoV infection in common fever, suspected and confirmed children, which provide practical suggestions on strengthening the management processes of children′s fever in outpatient department during the novel coronavirus pneumonia epidemic period.

10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1135-1138, 2015.
Article in Chinese | WPRIM | ID: wpr-480142

ABSTRACT

Objective To investigate the expression of Toll-like receptor 4 (TLR4) and myeloid derived suppressor cells(MDSC) in bone marrow cells in children with acute myeloid leukemia (AML),and to detect its relationship with the clinical features,the effect of chemotherapy and prognosis.Methods Twenty-nine cases of children with AML were collected from June 2013 to March 2014 in People's Hospital of Wuhan University,in which 11 cases of low-risk group,10 cases of middle-risk group,8 cases of high-risk group;and 17 cases of non blood disease was as the control group.The expressions of TLR4 and MDSC were detected by using reverse transcription-polymerase chain reaction (RT-PCR),Western blot methods,immunohistochemical staining,and flow cytometry,respectively,in the bone marrow cells of 29 children with AML.Results The mRNA and protein expression of TLR4 in the initial treatment group was higher than those in the complete remission group(t =3.092,3.393,all P < 0.05).The mRNA and protein expression of TLR4 in the relapse group was higher than those in the complete remission group(t =4.013,4.279,all P < 0.05).The positive expression rates of MDSC in the above 3 groups were (29.77 ± 1.39) %,(5.19 ± 0.65) %,(38.62 ± 3.54) %,respectively,compared with the control group [(1.32 ± 0.27) %] and there was significant difference(all P <0.05).The positive expression rates of TLR4 and MDSC in the initial treatment group,relapse group and complete remission group were significantly higher than those in the control group,with significant differences (initial treatment group TLR4:t =3.559,P < 0.05;MDSC:t =3.727,P < 0.05;relapse group TLR4:t =4.043,P < 0.05;MDSC:t =4.125,P < 0.05;complete remission group TLR4:t =2.798,P < 0.05;MDSC:t =3.469,P < 0.05).Pearson rank correlation analysis showed that there was a positive correlation between the expression of TLR4 and MDSC (r =0.673,P <0.01).Conclusions The expressions of both TLR4 and MDSC play an important role in onset,progression,curative effect and prognosis in children with AML,and the two may play an importment role in synergistic effect.

11.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1121-1123, 2015.
Article in Chinese | WPRIM | ID: wpr-480126

ABSTRACT

Pneumocystis carinii pneumonia (PCP) is a life-threatening opportunistic infection in immunocompromised patients.In recent years,the incidence of PCP has increased significantly since the application of combined chemotherapy,immunosuppressant and hematopoietic stem cell transplantation,with improved long-term efficacy in pediatric blood disease.This review summarizes the clinical manifestations,laboratory and radiological examination,diagnosis,treatment and prophylaxis.Compound Sulfamethoxazole is the most commonly used agent for prophylaxis.It is recommended for the high-risk patients to take PCP prophylaxis,which could decrease the incidence of PCP.

12.
Chinese Journal of Applied Clinical Pediatrics ; (24): 221-223, 2015.
Article in Chinese | WPRIM | ID: wpr-466806

ABSTRACT

Objective To investigate the clinic characteristics of hepatosplenic γδT cell lymphoma (γδ HSTCL) and analyze the important role of morphology,immunology,cytogenetics and molecular(MICM) in the early diagnosis of γδHSTCL.Methods The clinical features of MICM of a rare case of childhood γδHSTCL had been analyzed,and the related literatures were reviewed.Results Bone marrow aspiration showed approximately 0.365 abnormal cells infiltrated.The immune phenotype analysis displayed 0.245 of the nuclear cells were abnormal ones,which possessed CD2/CD3/CD7/CD19/CD3s/cCD3 and TCRγδ expression.The immunohistochemical staining of spleen tissues showed clusters of differentiation (CD) 3/CD45 RO/CD8/Cytotoxic-granule associated protein (TIA-1)/leukocyte common antigen (LCA)/Granzyme B positive,CD4/CD20/T cell receptor (TCR) β/CD79 α/CD30/terminal deoxynucleotidy transferase (TdT) /CD10/ myeloperoxidase (MPO)/anaplasticlymphoma kinase (ALK) negative and 80.00% of tumor cells displayed Ki-67 positive.The detection of spleen tissues by flow cytometry displayed that 72.26% of the karyocytes were lymphocytes,with 88.90% T lymphocytes.And 92.09% of the T lymphocytes showed Ki-67/CD7dim,TCRγδ/CD2/CD8/CD34 positive,and TCRαβ/CD5/CD4/CD56 negative.And about 59.16% of these karyocytes were abnormally matured T lymphocytes.The cytogenetic karyotype of bone marrow showed 46,XY.The detection of T cell receptor gene rearrangement showed TCRβ,TCRγ and TCRδ positive.The patient had been given prednisone of 60 mg/m2 when the diagnosis of γδHSTCL affirmed.But his parents discontinued chemotherapy for him and died.Conclusions MICM has shown a significant value in the diagnosis of γδHSTCL,a rare lymphoma in childhood.

13.
Chinese Journal of Applied Clinical Pediatrics ; (24): 186-189, 2014.
Article in Chinese | WPRIM | ID: wpr-733283

ABSTRACT

Objective It has been reported that Ik6 overexpression is associated with poor outcome of childhood pre-B acute lymphoblastic leukemia and Sup-B15 cell line is Ik6 positive.There were fewer studies on the Sup-B15 in the country,so the aim of this research is to explore chemosensitivity and angiogenic potency of pre-B acute lymphoblastic leukemia cell line Sup-B15 associated with Ik6 positive expression through making a comparison between Sup-B15 and Nalm-6 cell line.Methods The Ik6 mRNA and protein expression were detected by nested reverse transcription polymearse chain reaction and Western blot.The effect of vincristine,daunorubicin,L-asparaginase and dexamethasone on the proliferation of cells was measured by using CCK-8 assay.The migration and invasion of cells were detected by transwell assay and mRNA expression of angiogenesis genes (VEGF,Flt-1,PlGF,IGF-1,Ang1 and Ang2) was measured by real-time PCR.Results No expression of Ik6 was detected in Nalm-6 cell line.Compared with Nalm-6,Sup-B15 cell line had a lower rate of growth.The 4 drugs could inhibit the proliferation of cells in a dose-and time-depen-dence manner.Sup-B15 was more sensitive to daunorubicin,L-asparaginase and dexamethasone,and the folds of respective IC50 value were 9.5,1.1 and 1.5.But Sup-B15 was more resistant to vincristine than Nalm-6.The result of transwell assay showed that less Sup-B15 cells transmigrated to the lower chamber.A significant lower expression level of angiogenesis genes was detected in Sup-B15 cells.Conclusion These findings suggest that Sup-B15 is more sensitive to chemotherapy and less angiogenic compared with Nalm-6.

14.
Clinical Medicine of China ; (12): 554-556, 2014.
Article in Chinese | WPRIM | ID: wpr-450742

ABSTRACT

Objective To explore the related factors of nosocomial infection in children with leukemia and its character.Methods Retrospective analyzed 96 leukemia children with nosocomial infection who were come from 220 patients with acute leukemia.The information of the infection rate at different chemotherapy stages,different hospitalization time,site of infection and strain condition were recorded.Results (1) The infection rate of leukemia children at induction and consohdation stage were 85.7% (24/28) and 76.7% (23/30) respectively.(2) The infection rate increased with the duration of hospitalization periods.The infection rate was 8.6% (3/35) at 0-7 d hospitalization periods and 62.7% (42/67) at 15-30 d hospitalization periods.(3) The infection was prone to occurring at respiratory tract (58.3%,56/96),followed by gastrointestinal tract (17.7% (17/96)),blood (13.5% (13/96)),skin (8.3% (8/96)) and other parts (2.1% (2/96)).(4) The most frequency stain listed as Escherichia coli(21.8% (26/96)),and Citrobacter (16.8% (20/96)).The lower detection rates of the bacteria listed as Candida albicans (2.5% (3/96)),Aspergillus(1.7% (2/96)) and yeast (0.8% (1/96)).Condusion Even though the survival rates of leukemia children is increasing due to technology development,nosocomial infection frequently occur.The high infection rates occur at chemotherapy induction and consolidation phase.Therefore intervention should be taken based on nosocomial infection in children leukemia such improving the environment of ward,enhancing the immune ability of children in order to decrease the incidence of hospital infection.

15.
Journal of Leukemia & Lymphoma ; (12): 18-22, 2011.
Article in Chinese | WPRIM | ID: wpr-471918

ABSTRACT

Objective To investigate the molecular mechanism underlying lymphocyte functionassociated antigen-1 (LFA-1) / intercellular adhesion molecule-1 (ICAM-1) mediated anti-neoplastic effects of cytokine induced killer (CIK) cells. Methods Lymphocytes isolated from peripheral blood of children leukemia were induced with interferon-gamma (IFN-y), anti-CD3 monoclonal antibody (CD3McAb) and interleukin-2 (IL-2) and co-cultured with dendrite cells (DC) to generate DC-CIK cells. When treated with LFA-1 monoclonal antibody, cytotoxicity of DC-CIK cells against leukemia cell lines was measured by the MTT assay, while RT-PCR and Western blotting were used to determine mRNA and protein expressions of GATA-3 and T-bet in DC-CIK cells, respectively. IL-12, IFN-γ and tumor necrosis factor-α (TNF-α) levels released by DC-CIK cells were quantified by ELISA. Results Induced DC-CIK cells were regular, round and transparent with variable cell volume and cellular aggregation. When treated with mouse anti-human LFA-1 monoclonal antibody, the cytotoxicity decreased mostly towards B95 cells under administration of 20 μg/ml LFA-1 monoclonal antibody in comparison with the control group(t =10.138, P <0.05). It led to a highest elevation of GATA-3 mRNA and protein levels (t =16.386, P < 0.05; t =22.652, P < 0.05) and a most decrease of T-bet mRNA and protein levels (t =17.728, P <0.05; t =17.452, P <0.05) under 20 μg/ml LFA-1 monoclonal antibody in B95 cells group in comparison with the control group. The expression levels of IL-12,IFN-γ, and TNF-o in supernatant were the lowest under 20 μg/ml LFA-1 monoclonal antibody in B95 cells group in comparison with the control group (t =21.621, P <0.05; t =13.739, P <0.05; t =15.278, P <0.05).Conclusion GATA-3 and T-bet were implicated in the LFA-1/ICAM-1 mediated anti-neoplastic effects of DC-CIK cells via activation of the Th1 pathway, with high secretion of Th1 cytokines, such as IL-12, IFN-γ and TNF-α.

16.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 834-6, 2011.
Article in English | WPRIM | ID: wpr-635457

ABSTRACT

Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, using an oligonucleotide primer complementary to the telemetric repeat sequences (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PRINS. The results showed normal karyotype in all the children, subtelomeric rearrangements (1q del and 4q del) in 2 cases, which was confirmed by fluorescence in situ hybridization (FISH). It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening.

17.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 154-8, 2011.
Article in English | WPRIM | ID: wpr-635070

ABSTRACT

DNA repair processes play a role in the development of drug resistance which represents a huge obstacle to leukemia chemotherapy. Histone H2AX phosphorylation (ser139) (γH2AX) occurs rapidly at the onset of DNA double strand break (DSB) and is critical to the regulation of DSB repair. If DNA repair is successful, cells exposed to anti-neoplastic drugs will keep entering the cycle and develop resistance to the drugs. In this study, we investigated whether γH2AX can be used as an indicator of tumor chemosensitivity and a potential target for enhancing chemotherapy. K562 and multi-drug resistant cell line K562/A02 were exposed to adriamycin (ADR) and γH2AX formed. Flow cytometry revealed that percentage of cells expressing γH2AX was increased in a dose-dependent manner and the percentage of K562/A02 cells was lower than that of K562 cells when treated with the same concentration of ADR. In order to test the potential of γH2AX to reverse drug resistance, K562/A02 cells were treated with PI3K inhibitor LY294002. It was found that LY249002 decreased ADR-induced γH2AX expression and increased the sensitivity of K562/A02 cells to ADR. Additionally, the single-cell gel electrophoresis assay and the Western blotting showed that LY249002 enhanced DSBs and decreased the expression of repair factor BRCA1. These results illustrate chemosensitivity can partly be measured by detecting γH2AX and drug resistance can be reversed by inhibiting γH2AX.

18.
International Journal of Pediatrics ; (6): 128-131, 2010.
Article in Chinese | WPRIM | ID: wpr-390469

ABSTRACT

Aplastic anemia is an acquired bone marrow failure syndrome,characterized by an empty bone marrow,pancytopenia,as well as anemia,bleeding,infection syndrome.The pathogenesis of aplastic anemia has not yet been completely clear.Some of the proposed causes include hematopoietic stem/ progenitor cell deficiency,immune disorders,and abnormalities in the hematopoietic microenvironment.In recent years,further clinical and experimental studies have accumulated to recognize the pathogenesis of aplastic anemia.

19.
Journal of Leukemia & Lymphoma ; (12): 325-326,330, 2010.
Article in Chinese | WPRIM | ID: wpr-601952

ABSTRACT

Objective To explore the expression of antiapoptotic gene Aven in childhood acute lymphoblastic leukemia (ALL) and its relationship with clinical features of ALL. Methods Reverse transcriptase polymerase chain reaction (RT-PCR) was used to detect the expression of Aven mRNA in 55 cases of childhood ALL The control group included 11 childhood patients with no malignant hematological diseases. Results Aven mRNA expression was found to be higher in patients ≥10 years old and was also significantly higher in relapsed patients. Univariate and multivariate analysis indicated that Aven overexpression was an independent poor prognostic factor. Conclusion Aven mRNA expression is abnormal in childhood ALL and is an independent poor prognostic factor.

20.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 103-7, 2010.
Article in English | WPRIM | ID: wpr-634726

ABSTRACT

Even though mutations in LMNA have been reported in patients with typical dilated cardiomyopathy (DCM) and atrioventricular block (AVB) previously, the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval. Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2, where the LMNA gene was located. Direct DNA sequence analysis revealed a heterozygous G to A transition at nucleotide 244 in exon 1 of LMNA, which resulted in an E82K mutation. The E82K mutation co-segregated with all affected individuals in the family, and was not present in 200 normal controls. Further clinical evaluation of mutation carriers showed that 5 of 6 AVB patients exhibited mild DCM with a late onset of age in the fourth and fifth decades. Ejection fractions were documented in 5 patients with DCM, but 4 showed a normal value of [Symbol: see text]50%. Echocardiography showed that atrial dilatation occurred earlier than ventricular dilatation in the patients. This study suggests that progressive AVB with normal QRS interval and accompanying DCM at later stages may represent a distinct type of DCM. The molecular mechanism by which the E82K mutation causes AVB as the prominent phenotype in DCM may be a focus of future studies.

SELECTION OF CITATIONS
SEARCH DETAIL