Objective To present the clinic characteristics of thymoma associated with pure red cell aplasia. Methods Between 1979 and 2004, 5 patients with thymoma associated with pure red cell aplasia were surgically treated. Results The age of the patients ranged from 43 to 68 years, mean age 54.6 years. The incidence of thymoma associated with pure red cell aplasia was 2.7% (5/185) in the contemporary series. All five patients underwent radical operation. The early results of thymomectomy were excellent, 4 cases are long-term survivals, and recurrence of PRCA was found in one patient 2 months after operation and died 31 months later. Conclusion Thymoma associated with PRCA is a rare autoimmune disease. Surgery for thymoma is still the top priority in the selection of treatment. Incretion and immunosuppressor may be considered for postoperative persistent PRCA cases.

Objective To investigate the etiologies of spontaneous pneumothorax in flat-chest teenagers. Methods 139 teenagers with flat chest and spontaneous pneumothorax were designed as the study group, while 152 teenagers without spontaneous pneumothorax during the same period were taken as control. The ratio of thoracic transverse diameters to anterior-posterior diameters, and the ratio of tracheal length to transverse diameters were measured respectively by CT scan. The resected pulmonary tissues in 47 cases with spontaneous pneumonthorax and in 47 cases without spontaneous pneumonthorax underwent various examinations, including tension, compression, and bending tests. Student t-test was employed to perform the statistical analysis. Results The ratios of thoracic transverse diameters to anterior-posterior diameters and the ratios of tracheal length to transverse diameters in the study group were remarkably higher than those were in the control group, with significant statistical difference (P

Objective To explore the clinical features of acute retroperitoneal colon perforation. Methods A retrospective analysis and summary were made on the clinical data of 20 cases of various retroperitoneal colon perforation. Results All of the 20 cases had been misdiagnosed preoperatively. Eighteen cases received surgical treatment, of which 5 cases underwent one-stage tumor resection, 5 cases had two-stage tumor resection and anastomosis;of 8 cases with traumatic perforation,7 were treated by simple suture, 1 case underwent two-stage colonic anastomosis; 2 cases died,all the 2 cases were treated conservatively.Conclusions There are many differences between retroperitoneal colon perforation and intra-abdominal perforation in clinical symptoms, signs and supplementary examinations. Diagnosis of retroperitoneal colon perforation is difficult and the rate of misdiagnosis is high, so this condition must be highly regarded.Surgery is the best option to treat this disease.

Objective To study the changes of serum creatase and its clinical significance in patients with periodic paralysis.Methods The serum creatine phosphatase (CPK),lactate dehydrogenase (LDH) and aspartate aminotransferase (AST) were measured by means of speed rate method in 103 patients of periodic paralysis and 35 healthy persons as the control group. The relationship between increased serum creatase levels and the clinic findings was analyzed.Results Compared with the controls, all kinds of serum creatase levels in the patients elevated in different levels, and the differences were significant (all P

OBJECTIVE:To observe the clinical efficacy and sequela of Salvia miltiorrhiza treatment for severe craniocere-bral injury patients after operation. METHODS:60 severe craniocerebral injury patients were randomly divided into control group and treatment group with 30 cases in each group. Control group was given routine and symptomatic treatment after clearance of hematoma by craniotomy or decompressive craniectomy according to the patient’s condition;treatment group was additionally giv-en intravenous injection of Danshen injection 20 ml/d for 7-10 days 3-5 days after operation without hemorrhagic tendency,on the basis of control group,and then given Compound danshen dropping pills instead (10 pills/time,3 times/d) for one month. GCS score,GOS score,intracranial pressure and brain CT,the levels of ET and CRP were compared between 2 groups after op-eration. The occurrence of sequelae were evaluated 3 months after operation. RESULTS:After the operation,S. miltiorrhiza treat-ment could increase GCS score and GOS score,reduced intracranial pressure and brain edema of craniocerebral injury patients, and the improvement of clinical symptoms in treatment group was significantly faster than in control group,with statistical signifi-cance(P<0.05 or P<0.01). The postoperative S. miltiorrhiza treatment could decrease the levels of ET and CRP in patients with craniocerebral injury in the time-dependent manner,the decreased of treatment group was significantly faster than that of control group,with statistical significance (P<0.05 or P<0.01). The effective of postoperative sequelae improvement was 93.3% in treatment group,which was significantly higher than that of control group(76.7%),with statistical significance(P<0.05). CON-CLUSIONS:Postoperative S. miltiorrhiza treatment can improve the clinical symptoms of severe craniocerebral injury patients,re-duce the incidence of complication and improve the prognosis. The effect may be related to the decrease of plasma ET and CRP levels.

Objective To explore the genetic mutation in neonates who failed to pass hearing screening.Methods A total of 111 cases of neonates who failed to pass hearing screening and were conifrmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted.GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed.Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) hadGJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) hadSLC26A4 gene mutation including 2 cases of IVS7-2A>G single heterozygous mutation, 3 cases of 1226G>A single heterozygous mutation, 2 cases of 2168A>G single heterozygous mutation, and 3 cases of IVS7-2A>G and 2168A>G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.

Objective To separate the CD133 + subpopulation in human hepatocellular carcinoma (HCC) and investigate the tumorigenicity.Methods The human liver cancer tissues were subcutaneously transplanted into nude mice to generate xenograft tumors which were then isolated to prepare single cell suspension.The expression of CD133 + subpopulation was further detected using flow cytometry.The CD133 + subpopulations were separated and depurated with magnetic-activated cell sorting system.Immunofluorescence was performed to identify the histological phenotype of CD133 + subpopulation.The in vitro and in vivo clone formation assay and in vivo xenograft formation assay were performed, respectively.Results Flow cytometry analysis revealed that a percentage of (4.1 ± 0.6) ％ CD133 + cells were detected in xenografts.Immunofluorescence studies showed that (86.8 ± 7.5) ％ of the isolated cells were CD133 +.Compared with CD133-population, CD133 + cells showed a higher capability to generate clone sphere in vitro and a higher tumorigenicity in nude mice (P ＜ 0.05).Conclusion The CD133 + subpopulation in human hepatocellular carcinoma had a potent tumorigenicity and was enriched in cancer stem cells.

OBJECTIVETo investigate the clinical and laboratory features of very long chain acyl-CoA dehydrogenase deficiency ( VLCADD ) and the correlations between its genotype and phenotype.

METHODEleven patients diagnosed as VLCADD of Shanghai Jiaotong University School of Medicine seen from September 2006 to May 2014 were included. There were 9 boys and 2 girls, whose age was 2 d-17 years. Analysis was performed on clinical features, routine laboratory examination, and tandem mass spectrometry (MS-MS) , gas chromatography mass spectrometry (GC-MS) and genetic analysis were conducted.

RESULTAll cases had elevated levels of blood tetradecanoylcarnitine (C14:1) recognized as the characteristic biomarker for VLCADD. The eleven patients were classified into three groups: six cases in neonatal onset group, three in infancy onset group form patients and two in late onset group. Neonatal onset patients were characterized by hypoactivity, hypoglycemia shortly after birth. Infancy onset patients presented hepatomegaly and hypoglycemia in infancy. The two adolescent patients showed initial manifestations of exercise intolerance or rhabdomyolysis. Six of the eleven patients died at the age of 2-8 months, including four neonatal onset and two infant onset patients, with one or two null mutations. The other two neonatal onset patients were diagnosed since early birth through neonatal screening and their clinical manifestation are almost normal after treatments. Among 11 patients, seventeen different mutations in the ACADVL gene were identified, with a total mutation detection rate of 95.45% (21/22 alleles), including eleven reported mutations ( p. S22X, p. G43D, p. R511Q, p. W427X, p. A213T, p. C215R, p. G222R, p. R450H, p. R456H, c. 296-297delCA, c. 1605 + 1G > T) and six novel mutations (p. S72F, p. Q100X, p. M437T, p. D466Y, c. 1315delG insAC, IVS7 + 4 A > G). The p. R450H was the most frequent mutation identified in three alleles (13.63%, 3/22 alleles), followed by p. S22X and p. D466Y mutations which were detected in two alleles (9.09%, 2/22 alleles).

CONCLUSIONThe ACADVL gene mutations were heterozygous in our patients. The mortality of neonatal onset form and infant onset form is much higher than the late onset form patients, suggesting a certain correlation between the genotype and phenotype was found. The earlier diagnosis and treatment of VLCADD are of vital importance for the improvement of the prognosis of the patients.

Acyl-CoA Dehydrogenase, Long-Chain ; deficiency ; genetics ; Adolescent ; Age of Onset ; Alleles ; Asian Continental Ancestry Group ; Child ; Child, Preschool ; China ; Female ; Genetic Testing ; Genotype ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; complications ; genetics ; Male ; Mitochondrial Diseases ; complications ; genetics ; Muscular Diseases ; complications ; genetics ; Mutation ; Neonatal Screening ; Phenotype ; Prognosis ; Rhabdomyolysis ; etiology ; Spectrum Analysis ; Tandem Mass Spectrometry

Objective To understand the epidemic status of alveolar echinococcosis in Tibetan children in south Qinghai Province. Methods The imageology and serology methods were applied to investigate the epidemic status of alveolar echinococ?cosis of elementary school students in Yushu and Guoluo prefectures. Results Totally 19 629 children were investigated by the portable B ultrasound and 221 children were diagnosed as alveolar echinococcosis with the morbidity of 1.13%. Totally 9 888 were investigated by the indirect ELISA,and the positive rate of serum tests was 12.59%(190/9 888). The total morbidity of al?veolar echinococcosis of children in Yushu Prefecture was 0.42%(31/7 454)and it was 1.57%(190/12 175)in Guoluo Prefec?ture and there was a significant difference between them(χ2=53.42,P<0.005). The sero?positive rates of children in Yushu and Guoluo were 4.26%(302/7 081)and 18.56%(1 835/9 888),respectively(χ2 =765.77,P<0.005). The counties with the highest prevalence of alveolar echinococcosis in children were Dari County (4.31%,106/2 461) and Banma County (1.92%,26/1 351)of Guoluo Prefecture ,and Chengduo County(1.11%,18/1 612)of Yushu Prefecture. The total morbid?ity rates of alveolar echinococcosis of male and female children were 0.91%(91/9 954)and 1.34%(130/12 175)respective?ly(χ2=7.35,P<0.005). The total sero?positive rates of alveolar echinococcosis of male and female children were 12.10%(1 037/8 568)and 13.09%(1 100/8 406)respectively(χ2=3.63,P>0.05). The total morbidity of alveolar echinococcosis of children in different age groups was from 1.00%to 1.13%,and there was no significant difference among the age groups(χ2=2.73,P>0.05). The P1a type,P1b type and P2 type accounted for 67.76%(145/214),10.75%(23/214)and 16.36%(35/214)respectively among the alveolar echinococcosis patients. The diameters of nidus of 87.38%(187/214)patients were less than 5 cm,and 2.80%(6/214)were more than 10 cm. Conclusions The epidemic status of alveolar echinococcosis of Tibetan children in south Qinghai Province is serious,but most of the patients were at early stage of the disease. The screening work of al?veolar echinococcosis should be strengthened in Tibetan children,so as to perform the early diagnosis and treatment.

Objective To investigate the effect of tandem mass spectrometry and gas chromatography-mass spectrometry to make prenatal diagnosis of methylmalonic acidemia (MMA) by detecting organic acid and acylcarnitine in amniotic fluid.Methods From October 11,2007 to December 20,2014,131 pregnant women with MMA proband received prenatal diagnosis of MMA in Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (case group).Another 120 cases of pregnant women for conventional prenatal diagnosis at the same period were as control group.The pregnant women of two groups had the amniocentesis at 16 to 20 weeks of gestation.The levels of propionylcarnitine(C3) and acetylcarnitine(C2)in amniotic fluid were detected by tandem mass spectrometry.The methylmalonic acid and methylcitrate acid were detected by gas chromatography-mass spectrometry.MMA gene of cells in amniotic fluid of eighty fetuses with proband clearly diagnosed were detected by gene testing.Data were analyzed by Wilcoxon test.Results In case group,29 fetuses were found positive for higher level of C3,C3/C2,methylmalonic acid and methylcitrate acid compared with normal reference value,and the detected rate of fetal MMA was 22.1％(29/131).The levels of C3 and C3 / C2 in amniotic fluid of these 29 cases were higher than those in control group[8.13(2.42-16.70) vs 1.04(0.52-3.40) μmol/L,Z =-8.313; 0.77(0.30-1.79) vs 0.10(0.05-0.22),Z=-8.374; P ＜ 0.05 respectively].The levels of methylmalonic acid and methylcitrate acid were also higher[9.13(1.68-61.78) vs 0.00(0.00-1.31) mmol/mol Crea,Z=-11.348; 0.58(0.00-1.90) vs 0.05(0.00-0.52) mmol/mol Crea,Z=-6.632,P ＜ 0.05 respectively].For the other 102 cases in case group,the levels of C3,C3/C2,methylmalonic acid and methylcitrate acid were not higher than normal reference value,and were similar to those in control group (P ＞ 0.05); while they were lower than those of positive MMA fetuses (all P ＜ 0.05).Among 29 positive fetuses,16 fetuses were detected MMA gene,five were diagnosed as MUT forms of MMA and 11 were MMACHC forms of MMA.In 102 MMA negative fetuses,64 fetuses were detected MMA gene,44 were found one mutant site and 20 were found no gene mutation.The coincidence rate between gene detecting and mass spectrometry was 100％(80/80).Conclusions Mass spectrometry could be used to measure the C3,methylmalonic acid and methylcitrate acid levels in amniotic fluid of pregnant women with MMA proband to make prenatal diagnosis.