[Cardiac involvement of the type I mucopolysaccharidosis].

OBJECTIVE: To investigate the manifestations of cardiac involvement in the patients with mucopolysaccharidosis I (MPS I). METHODS: The clinical data of 10 MPS I patients were collected. Electrocardiography (ECG) and echocardiography (Echo) were performed in all patients and then analyzed. RESULTS: Among the ten patients, seven were men. The onset age of MPS was (0.5 ~ 8.0) years old and the age of diagnosis was (1.8 ~ 20.0) years old. Two patients had grade 2 precordial systolic murmur. ECG was abnormal in three patients with right ventricular hypertrophy in two and right axis deviation in another one. Echo showed valvular thickening and insufficiency in nine patients, enlarged left atrium and ventricle in one patient, pulmonary hypertension and right ventricular hypertrophy in two patients and abnormal left ventricular configuration in five patients. CONCLUSIONS: Cardiac involvement is common in MPS I patients and may present as valvular thickening with regurgitation, abnormal left ventricular configuration and pulmonary hypertension. The cardiac involvement progresses with age. ECG and Echo should be done regularly during follow-up of MPS I patients.

[Association of interleukin 28B polymorphisms with response to pegylatedinterferon plus ribavirin therapy for chronic hepatitis C].

OBJECTIVE: To investigate the characteristics of gene polymorphisms at rs12979860 of interleukin 28B (IL28B) and explore the relationships between the genetic polymorphisms and the antiviral therapy efficiency for chronic hepatitis C patients in the Sichuan region of China. METHODS: Data from 56 patients treated for 48 weeks with PEG-IFN alpha-2a plus weight-based Ribavirin (RBV), which were followed for 24 weeks after the end of treatment, were analyzed. And the IL28B rs12979860 genotype was detected by polymerase chain reaction-restriction techniques (PCR) and sequencing analysis. RESULTS: Two genotypes, CC (76.8%) and CT (23.2%), were identified in the study. There are no significant correlation in sex, age, body weight, routes of infection, baseline ALT value, baseline viral load and hepatitis C viral (HCV) genotype between the patients with CC genotype and CT genotype (P>0.05). PEG-IFN alpha-2a plus RBV showed a conspicuous therapeutic effect in patients of the Sichuan region of China, and the rate of sustained virological response (SVR) was 82.1% (46/56). The higher rates of SVR were observed in patients with IL28B genotype CC than genotype CT (90.7% versus 53.8%, P=0.009). Statistically higher proportion of SVR wasn't observed in patients with lower baseline viral load (< or =6 x 10(5) IU/mL) [88.2% versus 79.5% in patients with higher baseline viral load (> or = 6 x 10(5) IU/mL), P=0.684] and statistically lower proportion of SVR wasn't observed in patients infected with HCV genotype 1 (76.9% versus 92.9% in patients infected with HCV genotype non-1, P = 0.363). The higher rates of SVR were observed in patients with IL28B genotype CC than patients with genotype CT in the group of higher baseline viral load (> or = 6 x 10(5) IU/mL) (87.5% versus 42.9%, P=0.033) and in HCV genotype 1 infected patients (89.7% versus 50.0%, P=0.025). CONCLUSION: CC genotype was accounted for the majority at rs12979860 in patients of the Sichuan region of China. The higher rates of SVR were observed in IL28B genotype CC than genotype CT. Compared to HCV viral genotype and baseline viral load, IL28B genotype may predict the treatment effect of greater value.

[Cardiovascular risk profile of patients with glycogen storage disease type I].

OBJECTIVE: To investigate the cardiovascular risk profile in patients with glycogen storage disease (GSD) type I. METHOD: The clinical information of 62 patients with GSD type I who admitted to Peking Union Medical Hospital were reviewed and the cardiovascular risk profile was analyzed. RESULTS: The age of the patient cohort was (8.4 ± 6.9) years and the ratio of male vs. female was 36:26. The median disease duration was (6.7 ± 6.2) years and treatment duration was (38.3 ± 35.2) months. The rate of abnormal change in electrocardiogram and echocardiography was 17.7% and 24.2%, respectively. The serum concentration of total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C) and uric acid in patient before and after treatment were (6.18 ± 2.47) mmol/L vs. (5.61 ± 1.84) mmol/L (P = 0.020), (11.17 ± 9.85) mmol/L vs. (6.81 ± 5.97) mmol/L (P = 0.010), (2.55 ± 1.27) mmol/L vs. (2.78 ± 1.07) mmol/L (P = 0.617), (0.98 ± 0.37) mmol/L vs. (0.96 ± 0.23) mmol/L (P = 0.005), (526.53 ± 127.09) µmol/L vs. (490.78 ± 129.79) µmol/L (P = 0.977), respectively. The high-sensitivity C-reactive protein levels tended to be higher after therapy compared before treatment (2.33 ± 3.30) mg/L vs. (3.35 ± 3.39) mg/L, P = 0.431. CONCLUSION: Patients with GSD I are associated with an increased risk for cardiovascular disease.

A retrospective study of congenital scoliosis and associated cardiac and intraspinal abnormities in a Chinese population.

Our objective is to assess the incidence of cardiac and intraspinal abnormities in Chinese congenital scoliosis (CS) patients and to study the relationship between the associated abnormities and the different CS types. Five-hundred and thirty-nine consecutive Chinese patients with CS were retrospectively studied, and the records of echocardiography, plain radiograph of the entire spine, magnetic resonance imaging of the entire spine and/or myelogram were reviewed. The results indicated that the incidence of cardiac and intraspinal abnormities in CS patients was 14.1 and 24.5%, respectively. There was no difference in the incidence of associated cardiac and intraspinal abnormities in different CS types (P > 0.05). The most common cardiac abnormities in CS patients was mitral valve prolapse, which was followed by congenital heart diseases, including atrial septal defect, ventricular septal defect, bicuspid aortic valve and patent ductus ateriosus. The cardiac abnormities were not likely to be concurrent with intraspinal abnormities in CS patients (P = 0.04). The intraspinal abnormities were more common in female and older patients (all P < 0.05). One or more abnormities mentioned above could be found in 36.8% CS patients and were more likely to be found in female patients (P < 0.01). We concluded that CS is not a simple abnormity, due to the high incidence of associated deformities of other organs, comprehensive assessment was strongly recommended before the surgical correction for CS patients.

Anesthetic considerations of an emergency decompressive craniotomy complicated with Ebstein's anomaly and atrial septal defect.

Despite considerable published papers regarding Ebstein's anomaly (EA) patients receiving open-heart tricuspid valve replacement, non-cardiac emergency surgeries were rarely reported. We report a case of emergency decompressive craniotomy in a patient with EA. Anesthesiologists should pay special attention to the complications and anesthetic management during the non-cardiac surgeries performed in EA patients.

[Cardiovascular manifestations in Chinese patients with hypereosinophilic syndrome].

OBJECTIVE: To evaluate the cardiovascular involvements in Chinese patients with hypereosinophilic syndrome. METHOD: We respectively reviewed 149 inpatients with hypereosinophilic syndrome admitted to Peking Union Medical College Hospital and analyzed the cardiovascular involvements in these patients. RESULTS: Cardiac abnormalities was evidenced in 32.9% patients (49/149). The ratio of male vs female was 34:15. The average age of the patients was (41.3 ± 16.9) years and course of disease was (26.4 ± 72.3) months. Cardiovascular involvements included ST segment and/or T wave (ST-T) ischemic changes, arrhythmia, myocardial injury, cardiac thrombosis, pericardial effusion, pulmonary hypertension, valve disorder, vein or artery thrombosis. After glucocorticoid and/or chemotherapeutic agents and treatment for symptoms, 11 (22.4%) patients achieved remission but have recurrent attacks and 3 (6.1%) patients died from failure in treatment. The prognosis in patients with echocardiogram abnormalities were poorer than those only with electrocardiogram abnormalities (P < 0.05). CONCLUSIONS: Cardiovascular involvements are common in patients with hypereosinophilic syndrome and the manifestation of these involvement is various. Cardiovascular complications of HES are a major source of morbidity and mortality in these disorders.

Magnesium transporter AtMGT9 is essential for pollen development in Arabidopsis.

Magnesium (Mg(2+)) is abundant in plant cells and plays a critical role in many physiological processes. A 10-member gene family AtMGT (also known as AtMRS2) was identified in Arabidopsis, which belongs to a eukaryote subset of the CorA superfamily, functioning as Mg(2+) transporters. Some family members (AtMGT1 and AtMGT10) function as high-affinity Mg(2+) transporter and could complement bacterial mutant or yeast mutant lacking Mg(2+) transport capability. Here we report an AtMGT family member, AtMGT9, that functions as a low-affinity Mg(2+) transporter, and is essential for pollen development. The functional complementation assay in Salmonella mutant strain MM281 showed that AtMGT9 is capable of mediating Mg(2+) uptake in the sub-millimolar range of Mg(2+). The AtMGT9 gene was expressed most strongly in mature anthers and was also detectable in vascular tissues of the leaves, and in young roots. Disruption of AtMGT9 gene expression resulted in abortion of half of the mature pollen grains in heterozygous mutant +/mgt9, and no homozygous mutant plant was obtained in the progeny of selfed +/mgt9 plants. Transgenic plants expressing AtMGT9 in these heterozygous plants can recover the pollen phenotype to the wild type. In addition, AtMGT9 RNAi transgenic plants also showed similar abortive pollen phenotype to mutant +/mgt9. Together, our results demonstrate that AtMGT9 functions as a low-affinity Mg(2+) transporter that plays a crucial role in male gametophyte development and male fertility.

[Clinical and pathological characteristics of constrictive pericarditis in China].

OBJECTIVE: To summarize the clinical and pathological characteristics of constrictive pericarditis in China. METHOD: Data from 150 patients with constrictive pericarditis who admitted to our hospital from 2000 to 2007 were retrospectively analyzed. RESULTS: Constriction pericarditis was detected by echocardiography in 149 out of 150 patients. Pericardial effusion was evidenced in 59.3% patients (89/150). The diagnostic accuracy rate for identifying constrictive pericarditis by echocardiography (98.7%, 107/109) was comparable to that of surgical diagnosis (100%, 109/109). Tuberculosis was the main cause of constrictive pericarditis in this cohort (78.7%, 118/150) including 25 (16.7%) cases with pathological or etiological evidences of tubercular pericarditis, 8 (5.3%) cases with pathologically active tuberculous focus elsewhere in the body, 66 (44.0%) cases with typical clinical tuberculosis manifestation and responded to anti-tubercular therapy and 19 (12.7%) cases with a diagnosis of suspicious tuberculosis. Pericardiectomy was performed in 108 cases and pericardial biopsy and surgical drainage was performed in 1 patient. In hospital death rate was 8.7% (13/150, 4 tubercular patients and 9 non-tubercular). CONCLUSION: Tuberculosis is the leading cause of constrictive pericarditis in this cohort and the best diagnosis tool is echocardiography other than pathological and etiological findings in pericardium.