Objective To observe effect of home nursing on prevention and control of asthma. Methods Emergency patients(85 cases) were divided into the treatment group(42 cases) and the control group (43 cases).The control group received routine medical treatment after emergency management.The treatment group was given family intervention based upon routine medical treatment,the family intervention included regular visits or telephone followup,short message or internet multimedia, etc.These interventions supplied correct medication method,self-monitoring of asthma, self first-aid at acute attack,how to seek medical emergency treatment and psychological support,ete.The followup continued for 1 year. The asthma control test (ACT) was adopted to compare the clinical effect of the two groups. Results The control rate of the treatment group was greatly improved compared with that of the control group (P < 0.05). Conclu-sion Family intervention played a pivotal role in the improvement of control rate of asthma.

Objective To investigate the effect of radiotherapy on cellular kinetics of peripheral blood monocytes in patients with malignant tumors. Methods In patients with malignant tumors, apoptosis and proliferative activity of peripheral blood monocytes were monitored and compared before, during and after radiotherapy. Results Apoptosis and S phase fraction in cancer patients on radiotherapy were higher as compared to these without radiotherapy or the normal control group (8.93%?6.94%, 0.20%?0.20%, 0.15% ?0.13%, and 1.23%?1.15%, 0.54%?0.46%, and 0.33%?0.26%,respectively,F=5.77, P

Objective:To study the influence of surgical operation on cellular kinetics in peripheral blood monocytes of patients with malignant tumors.Methods:Apoptosis level and proliferative activity were measured and compared between before and after surgical opration in peripheral blood monocytes of patients with malignant tumors.Rusults:Apoptosis level of patients with malignant tumors after surgical operation was lower than that of patients before surgical operation( P

Objective: To study tumor chemotherapy on IL-2R express in peripheral blood cells of patients with malignant tumors.Methods: CD + 25 cells percentage rate of peripheral blood cells in patients with or without chemotherapy was done.Results: CD + 25 cells percentage rate in malignant tumor was lower than those of normal contrlos (P

Objective To study the causes of mis diagnosis and the experience of diagnosis and management for cholelithiasis complicated with abdominal tumors.Methods Clinical data of 36 cases of cholelithiasis complicated with abdominal tumors were analyzed retrospectively.Among them,24 were male,12 female.The age ranged from 48 to 82 year old.Each case was diagnosis as cholelithiasis and admitted to our hospital.Results In 36 patients,18 was diagnosed as complecated with abdominal tumors preoperatively;12 was diagnosed intraoperatively,while in 6 cases the tumor was misdiagmosed for 5 days to 3 months,finally the tumor was comfirmed by reoperation and pathology.Among the 36 cases,the tumors cluding 5 of carcinoma of gallbladder(13.9%),4 of cholangiocarcinoma(11.1%),3 of hepatoma(8.3%),6 of pancreatic carcinoma(16.7%),6 of gastric carcinoma(16.7%),7 of colon carcinoma(19.4%),2 of rectal carcinoma(5.5%).Of them,2 cases refused operation,2 cases underwent intervention operation,the others reseived operation.During primary operation,radical resection of the tumor and cholecystectomy and/or common bile duct(CBD) exploration was performed in 18 patients,palliation resection and cholecystectomy and/or CBD exploration performed in 4 patients,exploratory laparotomy performed in 4 patients,and only LC and/or CBD exploration performed in 6 patients.Of the latters,reoperation was performed 5 days to 3 months after primary operation.4 patients had tumor radical resection,1 had palliation resection,and 1 had interventional therapy.Conclusions Cholelithiasis may complicated with abdominal tumor,especially with digestive tract tumor.For cholelithiasis patient the history-taking need to be done carefully before operation.For the senile patient and the patient without typical symptoms or physical signs,the systems checking shoud be done carefully preoperatively,and abdominal cavity should be checked carefully intraoperatvely to find the tumor,which may exist in abdominal cavity.the patient with syndrome of post-cholecystectomy shoud be carefully followed up to avoid the mis diagnosis and mistreatment of the tumor.

Objective To improve the sensitivity of detection of protein P16 by FCM.Methods Protein P16 of blood cells and tumor cells in biopsy samples were labeled simultaneously with anti-CD45 and anti-P16 fluorescent antibody.The rates of CD45+P16+ cells and CD45-P16+ cells were calculated by FCM.Results The low expression rates of protein P16 in normal blood cells and in tumor cells in biopsy samples were 15.39%(6/39) and 69.23%(27/39),respectively, which had a significant differences (P

OBJECTIVETo study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.

METHODSPeripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.

RESULTSTwenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.

CONCLUSIONThere is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.

Adolescent ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics

OBJECTIVETo assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

METHODSFor 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members. Clinical data and laboratory results of the probands and their family members were analyzed.

RESULTSEleven mutations were identified among the 38 alleles from the 19 probands. 92.1% (35/38) of the mutant CYP21A2 alleles were due to recombination between CYP21A2 and CYP21A1P. Gene conversion and deletions were identified in 84.2% (32/38) and 7.9% (3/38) of the alleles, respectively. IVS2-13A/C>G and chimeras were the most common mutations, which respectively accounted for 34.2% (13/38) and 18.4% (7/38) of all mutant alleles. Among these, IVS2+1G>A and Q318X+356W were first reported in China. 74.3% (55/74) of the family members were carriers of heterozygous mutations. However, no significant difference was found in the 17-OHP levels between carriers and non-carriers (P>0.05).

CONCLUSIONThere seems to be a specific spectrum of CYP21A2 gene mutations in Fujian area, where IVS2-13A/C>G and chimeras are the most common mutations.

Adrenal Hyperplasia, Congenital ; genetics ; Alleles ; Female ; Humans ; Male ; Mutation ; genetics ; Steroid 21-Hydroxylase ; genetics

OBJECTIVETo explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).

METHODSSerum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls.

RESULTSMutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c.1244-2A>C and c.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>A(p.G390E), respectively. One has carried homozygous c.1244-2A>C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence.

CONCLUSIONc.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.

OBJECTIVETo assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).

METHODSThe 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).

RESULTSSix SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.

CONCLUSIONrs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.

Alleles ; Autoantigens ; genetics ; Base Sequence ; Child, Preschool ; Congenital Hypothyroidism ; blood ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Infant ; Infant, Newborn ; Iodide Peroxidase ; genetics ; Iron-Binding Proteins ; genetics ; Linkage Disequilibrium ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Risk Factors ; Thyrotropin ; blood ; Thyroxine ; blood