Aortic Coarctation ; complications ; Ductus Arteriosus, Patent ; complications ; Humans ; Infant ; Pulmonary Artery ; abnormalities

Objective To explore the diagnosis and differential diagnosis of spinal muscular atrophy with respiratory distress type Ⅰ (SMARD1). Method The clinical data, results of gene detection, and follow-up information of a girl diagnosed with SMARD1 were retrospectively analyzed, and related literatures were reviewed. Results The girl was born by cesarean section due to oligohydramnios. After birth, she was transferred to neonatology department for poor feeding and response, and diagnosed with neonatal sepsis, infectious shock, disseminated inravascular coagulation and atypical purulent meningitis. She was discharged after one month of treatment. However, at 2 months old, she presented contracture of ankle joint, abnormal liver function, and myocardial damage. At 6 months old, she had obvious reduced muscular tension and development retardation. At 8 months old, the SMA gene was detected and it was normal. At 9 months old, The panel gene of peripheral neuropathy was detected and found 2 heterozygosis mutations in IGHMBP2 gene, exon8 c.1061-2A>G and exon12 c.1708C>T, which came from her father and mother respectively. Locus of exon12 c.1708C>T has been reported to be associated with the disease, and the other is a shear mutation. The diagnosis of SMARD1 was confirmed by the clinical and gene detection. The girl, 2-year-old now, suffered with recurrent respiratory tract infections, but had no respiratory distress or no respiratory failure yet. Conclusion The clinical phenotype of SMARD1 is complex and diverse. This case is the first domestic case comfirmed by gene detection.

Objective To investigate the clinical manifestation and diagnosis of Hashimoto thyroiditis (HT). Methods 45 HT patients diagnosed by fine needle aspiration cytology (FNAC) were enrolled in this study. Their medical history, clinical parameters, data of laboratory examination, colour doppler ultrasonic image and FNAC were analyzed. Results This disease was more common in women than in men, and most of cases occurred during 35～50 years old. Almost all cases had the symptoms of thyromegaly and laryngopharynx malaise. The patients had normal thyroid function, hypothyroidism or hyperthyroidism. The levels of both antithyroid globulin antibody and antithyroid microsome antibody increased in 39 cases. The ultrasonic imaging features of thyroid were such as following: diffusive nonhomogenous hypoecho pattern in 19 cases, numerous hypoecho micronodes in 15 cases, hyperecho micronodes in 3 cases, and hyperecho bandlike echo pattern with swelling of neck lymph nodes in 8 cases. Conclusion Diagnosis of HD should put emphasis on a complete medical history, physical examination and necessary laboratory tests. Antithyroid auto-antibody assay and thyroid ultrasonic examination were very important for diagnosis of HD, and FNAC may be indispensable in suspected cases.

Objective To explore the immune function injury and its mechanism in drug abuser.Methods The immune function changes in 50 drug abusers were compared with normal healthy populations by detection of the indexes of subgroups of Th cells, transformation rate of lymphocytes,IgA,IgM,IgG,IgE,compliment C3,C4,IL 1, IL 2,IL 6 TNF and NO.Result In peripheral blood the percentage of Th1 cell, transformation rate of lymphocyte, IgA, IgM, IgG, IgE content, compliment C4,C4, IL 1, IL 2,IL 6,and TNF levels were significantly lower than normal(P< 0.01).The value of Th1/Th2 was lower than normal as well(P< 0.05).NO content was significantly higher than normal(P< 0.001).Conclusion The mechanism of immune function injury in drug abuser might be correlative to direct injury of drugs and their inhibition effect on the thymus hypothalamus hypophysis adrenal axis.

Objective To investigate characteristics of TCM syndromes of pulmonary tuberculosis,and to explore new methods for its treatment. Methods TCM syndrome scale was designed to investigate and summarize the characteristic of the syndrome, the syndrome of the general information, and the main clinical symptoms of 516 pulmonary tuberculosis patients. Results The between-group comparison of distribution of TCM syndromes in patients with pulmonary tuberculosis showed statistical difference (P＜0.05) . The occurrence rate of TCM syndromes in the 516 pulmonary tuberculosis patients were listed in descending order as follows:syndrome of both Qi and yin deficiency complicated with stasis ＞ syndrome of lung yin deficiency complicated with stasis＞syndrome of both Qi and yin deficiency＞syndrome of yin deficiency with various with age (P＜0.05) . Patients with blood stasis syndrome occupied 66.15% of the total number in the youth group; Patients with blood stasis syndrome occupied 78.03% of the total number in the middle-aged group;distribution of TCM syndromes was statistically different with the initial treatment and re-treatment (P＜0.05) .Patients with the blood stasis syndrome occupied 72.73% of the total number in the initial group, patients with effulgent fire ＞ lung yin deficiency syndrome.① The distribution of TCM syndromes was statistically various with age (P＜0.05) . Patients with blood stasis syndrome occupied 66.15％ of the total number in the youth group; Patients with blood stasis syndrome occupied 78.03％ of the total number in the middle-aged group; Patients with blood stasis syndrome occupied 78.22％ of the total number in the old-aged group. ② The distribution of TCM syndromes was statistically different with the initial treatment and re-treatment (P＜0.05) . Patients with the blood stasis syndrome occupied 72.73％ of the total number in the initial group, patients with the blood stasis syndrome occupied 75.61％ of the total number in the re-treatment group.③ The distribution of TCM syndromes was statistically different with the main symptoms (P＜ 0.05 ) . Conclusion All 516 cases of pulmonary tuberculosis had Yin deficiency. There were 380 patients had the stasis, occupying 73.64%.Therefore, the methods of nourishing yin and removing blood stasis should be used to treat patients with pulmonary tuberculosis.

Objective To explore the clinical characteristics and risk factors in patients with peripartum cardiomyopathy (PPCM).Methods A total of 35 patients admitted in Peking Union Medical College Hospital and diagnosed with PPCM between January 1995 and December 2014 was included and analyzed in this study.The subjects were divided into two groups:the early recovery and delayed recovery.Early recovery was defined as normalization of left ventricle ejection fraction (LVEF) ≥ 50％ before 6 months post-diagnosis.Delayed recovery was defined if the length of time required for recovery of LVEF was longer than 6 months or death was reported during follow-up.Risk factors for delayed recovery were assessed.Results The incidence of PPCM was 1 per 1 067 deliveries between the study periods.The age of the 35 patients was (28.9±5.6) years old.Among them,20 (57.1％) patients were not in the first pregnancy,13 (37.1％) had delivered before,and 5 (14.3％) patients had twin pregnancies.The LVEF at diagnosis was (34.1 ±8.0) ％.62.9％ (22 cases) of the subjects were in the early recovery,while 37.1％ (13 cases) of the subjects were in the delayed recovery group,2 of whom suffered death.Multivariate logistic regression indicated that LVEF (OR =1.339,95％ CI 1.063-1.688,P =0.013) and left ventricle end-dilated diameter(OR 0.763,95％CI 0.607-0.960,P =0.021)were independent risk factors for delayed recovery.Conclusions PPCM is a rare but life-threatening complication of pregnancy.LVEF and left ventricle end-dilated diameter at diagnosis were two independent factors associated with the prognosis of PPCM.

Objective The aim of this paper is to know about the pollution of microcystin-LR(MC-LR)in Fenhe First reservoir and Fenhe Second reservoir in Taiyuan and provide reference for making the policy of prevention microcystin-LR pollution.Methods During the low water period(May,2005)and common period(Oct,2005),5 liter water was sampled in the entrance,the center and the exit in Fenhe First reservoir and Fenhe Second reservoir respectively.The concentrations of MC-LR in two reservoirs were determined by the high-performance liquid chromatography(HPLC).Results The average concentration (0.875 ?g/L)of MC-LR in low water period was 3 time of that(0.283 ?g/L)in common period in Fenhe First reservoir.The average concentration(0.815 ?g/L)of MC-LR in low water period was 17 time of that(0.048 ?g/L)in common period in Fenhe Second reservoir.The level of MC-LR in the entrance was the highest,that in the exit was the lowest,that in the center was middle. The concentration of MC-LR of the entrance in low water period was more than the MC-LR limit(1 ?g/L)in Life drinking water hygienic guide(2001).Conclusion MC-LR pollution has been found in Fenhe First reservoir and Fenhe Second reservoir and the pollution is serious in low water period.

Objective To investigate the correlation between QRS amplitudes and left ventricular wall thickness in autopsy specimens of elderly men.Methods The data of autopsy cases in our hospital since 1990 were retrospectively analyzed.The cases with QRS duration≥0.12 s and the pacing electrocardiogram were excluded.QRS amplitudes of standard 12-lead electrocardiography in 3 months before death were measured and the correlation between QRS amplitudes and left ventricular wall thickness was analyzed in the elderly men.Results Correlations were found between the amplitudes of the R waves in leads V5 ,V6, Ⅰ ,aVL[(1.1±0.7) mV, (0.95±0.6) mV, (0.44±0.3)mV and(0.35±0.3)mV] and left ventricular wall thickness[(13.6±5.4)mm;r=0.22,0.14,0.22,0.23,all P<0.05], and between the combination of QRS amplitudes SV1 +RV5 or RV6(1.9±1.2) mV] and left ventrieular wall thickness [(13.8± 5.4) mm; r = 0.23, P < 0.05].The correlationbetween the combination of QRS amplitudes (SV1 + RV5 or RV6 ) and left ventricular wall thickness was the strongest in 60-79 years old cases (r=0.48, P<0.01) ,and was decreased in 80-89 years old cases (r= 0.23, P<0.05).There was no correlation between the combination of QRS amplitudes (SV1+RV5or RV6) and left ventricular wall thickness in 90-101 years old cases (r= 0.03, P> 0.05).Conclusions Electrocardiogram is a reliable method for diagnosis of left ventricular hypertrophy in elderly men aged < 90 years.

Objective To explore the risk factors of vascular cognitive impairment (VCI)among Chinese population, and to clarify the scientific evidences for further prevention and treatment.Methods PubMed,CNKI,CBM,VIP and Wangfang databases (from 2002.1 to 2013.1)were searched to collect case-control studies or cohort studies studying risk factors of VCI among Chinese population. Meta-analysis was performed to calculate combined odds ratio (OR)or mean difference (MD)and its 95% confidence interval (95%CI).Results A total of 42 proper papers involving 3 282 cases and 7 815 controls were included in the review.For categorical variables,pooled OR and its 95% CI were as follows:hypertension 2.56 (2.03 - 3.21 ), hyperlipidemia1.79 (1.39 - 2.30 ), hyperglycemia 2.46 (1.90-3.19),Leukoaraiosis 5.46 (2.60-11.46),cerebral infraction multiple foci 4.39 (2.61-7.38),stroke history3.79(2.35-6.11),left hemisphere lesions 2.13(1.42-3.20),smoking 1.51 (1.08-2.11),drinking 0.99(0.73-1.36),basal ganglia lesions 2.15(1.55-2.99),thalamus lesions 2.34(1.57-3.47);for continuous variables,MD and its 95%CI were as follows:level of TG 0.35(0.15-0.55),level of TC 0.44(-0.16-1.04),level of folic acid -4.10(-5.50- -2.69),vitamin B12 -130.44(-225.46--35.41).Conclusion Except for drinking and level of TC, hypertension, hyperlipidemia, hyperglycemia, leukoaraiosis,cerebral infraction multiple foci,stroke history,left hemisphere lesions,smoking,basal ganglia lesions,thalamus lesions,high level of TG,low level of folic acid and vitamin B12 might be the risk factors of VCI among Chinese population.

0.05), but each gene expression level was higher in schizophrenic or siblings than in normal controls(P0.05), and the correlation between the gene expression levels of IL-1? and TNF-? were significant in all groups(r=0.847 or 0.942, P