Objective To detect the serum concentration of procollagen type Ⅲ aminoterminal peptide (PⅢP) and laminin(LN) in patients with congestive heart failure(CHF),in order to explore the value in diagnosis of myocardial fibrosis.Methods In 44 patients with CHF and 30 healthy controls,serum concentration of PⅢP and LN were measured by competitive radioimmunoassay.Results Serum concentration of PⅢP in patients with CHF significantly increased,as compared with normal controls(5 5?1 1)?g/L vs (3 8?1 5)?g/L(P

Objective: A high-performance liquid chromatographic (HPLC) procedure with a fluorescence detector was developed to rapidly separate ?,?,?,?- tocopherol isomers in human serum Methods: The HPLC system consisted of Inertsil silica column (100-A, 3?m,4.6mm?250mm) and 7% (v/v) methyl-tert- butyl ether in n-hexane as mobile phase . Prior to HPLC, the serum sample wa deproteined by ethanol (BHT 0.0625%) and the tocopherol isomers were efficiently extracted in thei original isomeric conformations using n-hexane-ethyl acetate (5:1) in the presence of 2,6-bi-buty p-methylphenol (BHT). Result: The quantification limits, defined as the lowest quantitatively measurable concentration of the different compounds (ng/ml) are calculated according to the experiment:?-tocophero 1.0,?-tocopherol 1.0,?-tocopherol 0.5,?-tocopherol 0.5. The recovery rates are between 95%~105% Correlation coefficients are over 0.999 when the concentration is between 5 ng/ml~5 ?g/ml. Conclusion This technique is suitable for assay of tocopherol isomers in human serum at all ages.

ObjectiveTo establish a analytical system for the survival motor neuron (SMN) subtle mutation,and evaluate its application in two families with spinal muscular atrophy (SMA).MethodsSMN genes in seven family members from two SMA families were analyzed at both transcript level and genomic level,by the use of the conventional PCR-RFLP,allele-specific PCR,multiplex ligation-dependent probe amplification (MLPA) and T subcloning and sequencing of SMNI gene.ResultsIn family A,the patient had a single SMN1 copy who was carrying nonsense mutation L228X,which was also found in his father.In family B,as the patient's sample was unavailable,the father was indeed a carrier with one normal SMN1 allele and the other SMN1 allele carrying a frameshift mutation 22_23insA.The remaining family members were SMA carriers with one SMN1 copy.ConclusionThis analytical system for SMN subtle mutation offers viable molecular basis for genetic counseling and prenatal diagnosis in SMA families.

Objective: To study the attenuating effect of angiotensin I type 1 receptor antagonist losartan and an-giotensin converting enzyme inhibitor captopril on aortic atherosclerosis in rabbits. Methods: Thirty-one male New Zealand rabbits were randomly divided into 5 groups:control group,high cholesterol diet group,losartan group, captopril group and combined drug administration groupdosartan+captopril). The animals were killed after 16 weeks and the serum total cholesterol ,triglyceride, high and low density cholesterol .atherosclertic ratio,endothelin,NO,plaque area percentage,aortic cholesterol content and vascular smooth muscle cell (VSMC) apoptosis were determined. Results:The plaque area percentage,aortic cholesterol contents and endothelin levels of 3 drug treatment groups were significantly lower than that of high cholesterol group,NO contents and VSMC apoptosis were significantly higher. Conclusion:Losartan and captopril can attenuate aortic atherosclerosis induced by high cholesterol diet .combined administration of the 2 drugs at low doses are more effective. The mechanism may be related to the protection of endothelial function and the effect on apoptosis of VSMC.

To establish the quality standard for Zhike Xiaoyan Zhitong lotion. Methods: Phellodendri chinensis Cor-tex, Angelicae sinensis Radix and Astragali Radix in the preparation were identified by TLC. The content of berberine hydrochloride, the effective component in Phellodendri chinensis Cortex, was determined by HPLC with the chromatographic conditions as follows: an Agilent 5 TC-C18 column (250 mm × 4. 6 mm, 5 μm) was used, the mobile phase was acetonitrile-0. 05 mol·L-1 potassium dihydro-gen phosphate (30∶70) with the flow rate of 1. 0 ml·min-1 , the detection wavelength was 265 nm, and the column temperature was at 30 ℃. Results:The spots of Phellodendri chinensis Cortex, Angelicae sinensis Radix and Astragali Radix in Zhike Xiaoyan Zhitong lotion on TLC were clear with strong specificity and without any interference from the negative controls. There was a good linear rela-tionship for berberine hydrochloride within the range of 0. 029-3. 628 μg(r=0. 999 9), and the average recovery was 97. 83% (RSD=2. 05%, n=6). Conclusion:The qualitative and quantitative methods are accurate, reliable and repeatable, which can effectively control the inherent quality of Zhike Xiaoyan Zhitong lotion.

In this research, X-ray photograph and kinescope were applied to observe the whole process of barium swallowing statically and dynamically before and after acupuncture treatment by the radiography of the upper alimentary tract (RART). The observation was made on the objective changes about the functional renovation of contractor muscle of pharynx and epiglottis muscle. Among 36 cases, function of speaking basically recovered in 3 cases, function of swallowing 16 cases,function of expectorating sputum 15 c ases, and for function of water drinking 13 cases. The total effective rate: 75.0% for function of speaking, 97.2% for function of swallowing, 75.0% for function of expectorating sputum, 97.2% for function of water drinking.

Objective To explore the theoretical framework and method of community-based rehabilitation assessment for children with cerebral palsy based International Classification of Functioning, Disability and Health (ICF). Methods The system of assessment of community-based rehabilitation was developed based on the theoretical framework ICF, combined with multi-tools and self-compiled work scales.The system was used for 50 rural children with cerebral palsy after 1-year of community-based rehabilitation. Results and Conclusion The system of assessment is applicable for rural community-based rehabilitation of children with cerebral palsy, with satisfactory efficacy and compliance.

Objective:To investigate the clinical, pathological and genetic characteristics of neonatal alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV).Methods:The clinical manifestations, radiographic examinations, pathology and parental genetic analysis of a newborn with FOXF1 variation induced ACDMPV, who was hospitalized in the Department of Neonatology of Shenzhen Children′s Hospital in January 2020, were extracted and analyzed. Related literature up to March 2020 with the key words of “Alveolar capillaries dysplasia” “Alveolar capillary dysplasia with misalignment of the pulmonary veins” “FOXF1” in PubMed, CNKI, Wanfang, CQVIP database and Leiden Open Variation database (LOVD) were searched.Results:A full-term male newborn （1 hour of age） was admitted due to anal atresia. Surgical repair of anal atresia and omphalocele was performed on the first day of life, and gallbladder absence and Meckel′s diverticulum were identified during the operation. Respiratory distress with hypoxemia developed at about 6 hours of life, and persistent pulmonary hypertension developed and progressed after surgery, with poor response to mechanical ventilation and pulmonary vasodilators. This infant passed away at 26 days of life. Lung biopsy showed decreased alveolar units and thickened interalveolar septa, reduced alveolar capillary density and thickened walls of peripheral pulmonary arteries, and misaligned pulmonary veins adjacent to the pulmonary arterioles, which were consistent with ACDMPV. The whole exome sequencing revealed a heterozygous novel frameshift of FOXF1 gene located in chromosome 16q24.1 c376_377insT; p.(Pro126fs). According to the bioinformatics analysis, this variation was likely to be pathogenic as it was associated with coding disorder of FOXF1 Pro126, resulting in truncation of the encoded protein. This novel variation had not been reported in the human gene mutation database (HGMD), ESP6500siv2_ALL, 1000g2015aug_ALL or dbSNP147 database. Previous 6 literatures reported 54 variants, including 28 missense, 10 nonsense, 11 frameshift, 2 deletion, 1 synonymous, and 2 extensions. Only three of the reported 45 cases （24 males, 21 females） were still alive as of the time of this study.Conclusions:Typically, ACDMPV is a catastrophic disease in neonatal period with high mortality. Lung biopsy and genetic testing should be considered in infants who present with persistent pulmonary hypertension and refractory hypoxemia, especially when combined with extrapulmonary abnormalities.

OBJECTIVETo analyze mutation of adenomatous polyposis coli (APC) gene in a family affected with familial adenomatous polyposis.

METHODSThe diagnosis was made based on clinical manifestations, family history, presence of numerous polyps in the colon as well as pathological examination. Peripheral blood samples were collected, and genomic DNA was extracted. Potential mutation of the APC gene was detected by polymerase chain reaction (PCR) and DNA sequencing. After finding the mutation in the proband, the same mutation was screened among other family members. The mutation was also confirmed with PCR-restriction fragment length polymorphism (RFLP), with which 100 unrelated healthy controls were examined.

RESULTSA novel heterozygous nonsense mutation c.2891T>G (L964X) of the APC gene was identified in this pedigree. The mutation has led to premature termination of translation. The same mutation was not detected among the 100 healthy controls.

CONCLUSIONThe c.2891T>G (L964X) of the APC gene probably underlies the familial adenomatous polyposis in this pedigree. The combined DNA sequencing and PCR-RFLP method is efficient and accurate for the diagnosis.

Adenomatous Polyposis Coli ; diagnosis ; genetics ; Adenomatous Polyposis Coli Protein ; genetics ; Adult ; Base Sequence ; Child, Preschool ; Colorectal Neoplasms ; diagnosis ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Point Mutation ; Young Adult