Two patients with coexistence of thyroid disease and suspected Gitelman's syndrome underwent SLC12A3 gene analysis. The results confirmed that both patients were compound heterozygotes of SLC12A3 gene mutation. Three novel variants of SLC12A3 were found in this study. This report suggests that Gitelman's syndrome may coexist with other disorders associated with hypokalemia, such as Graves' disease.

Objective To measure the changes of total factor productivity (TFP)of Zhejiang medical facilities for decision makers to promote their service efficiency.Methods Collecting the panel data of 2005-2010(four input indexes and five output indexes)from medical facilities in Zhejiang province and measuring with Malmquist index of DEA programs of DEAP2.1.Results The average annual TFP growth rate in the period is 2.0％.A further decomposition found that the average annual growth rate of technology progress is 1.8 ％,while that of technical efficiency and pure technical efficiency is only 0.2％respectively.In the meantime,no scale efficiency growth was found.Conclusion The average annual growth of total factor productivity of Zhejiang medical institutions is substantially low in the period,with technology recession found as well.To maximize productivity of the medical sector,the allocation and internal management should be strengthened to stimulate technical efficiency and scale efficiency while encouraging technology innovation.

Objective To analyze and identify the mutations of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis (rdRTA) children,and study the association of genotype and phenotype. Methods Genome DNA was amplified by PCR.Mutations of ATP6V0A4 and ATP6V1B1 gene in 3 children from 3 families were examined by direct sequencing.One hundred unrelated healthy subjects were selected to evaluate all mutations found in this study. Results A novel homozygous nonsense mutation was identified in ATP6VOA4 gene in one child, and a novel heterozygous nonsense variant and a frame-shift alteration were found in another child.No mutation of both genes was found in the third child.Conclusions Study of mutant genes of rdRTA in Chinese patients is helpful to understand the association in genotype and phenotype and increase the level of cognition and treatment to this disease.

OBJECTIVE:To evaluate evidence foundation of phamracogenetics personalized medication,and to provide refer-ence for clinical application. METHODS:Using“phamracogenetics”“pharmacogenomics”and“gene polymorphism”as key words,related literatures and clinical guideline were retrieved from PubMed,CNKI,Wanfang database,and analyzed in respects of involved gene,site and drug types,etc. Evidences of package inserts of phamracogenetics biomarker were evaluated by using phamracogenetics practice and prevention evaluation guideline. RESULTS:8 276 papers,25 guidelines and 166 drug package in-serts are available for analysis. The phamracogenetics literatures mostly focus on the relationship between some one gene and differ-ent drugs. In guidelines,some one specific gene can guide clinical application of multiple drugs in different fields. In drug package inserts,general level of clinical evidence is not high;detectable biomarkers is inadequate in category,and detection rate is only 38.06% besides targeting preparation. CONCLUSIONS:Under the condition of low clinical evidence level the detection of pharma-cogenetics biomarker should be conducted carefully,and basic study should be further strengthened.

Objective To study the antileukemia immune response of IL-18 gene transfected dendritic cells(DCs) of chronic myelogeous leukemia(CML).Methods DCs were transfected with IL-18 gene by liposomes in CML.The expression of IL-18 in IL-18 transfected DCs was detected.The percentages of CD80+ and CD86+ cells in IL-18 tranfected DCs were determined by FCM.The proliferation of T cell,NK and specific CTL kill activity induced by IL-18 gene transfected DCs were detected.Results The quantity of IL-18 in IL-18 tranfected DCs was(596?34.1)pg/2?106cells/48 h,while the culture medium of mock-transduced DCs and DCs did not secrete detectable levels of IL-18.The percentages of CD80+ and CD86+ cells in IL-18 tranfected DCs were higher than that in mock-transfected DCs(P

Objective To describe the clinical characteristics of one child with primary hyperoxaluria types Ⅲ, and to analyze the potential mutant genes in his family.Methods AGXT, GRHPR and HOGA1 genes were analyzed by direct sequencing analysis in this family.One hundred unrelated healthy subjects were also analyzed as controls.Results The child had early onset of symptoms (0.8 year).His principal clinical manifestation included nephrolithiasis and obstructive nephropathy, however his nephrocalcinosis was mild.And he presented high urine oxalate, high urine calcium, and lower citrate levels.Two novel heterozygous mutations in HOGA1 were identified (compound heterozygous), one mutation was a 2-bp substitution at the last position in exon 6 and the first position of intron 6 respectively (c.834_834 + 1GG ＞ TT);another was a guanine to adenine substitution of the last nucleotide of exon 6 (c.834G ＞ A).Both of these variants found in this study probably acted as splicing mutations.Direct sequencing analysis failed to find these mutations in 100 unrelated healthy subjects.In addition, a SNP (c.715G ＞ A, p.V239I) was found in this family.There were no mutations detected in AGXT and GRHPR.Conclusions Two novel mutations are identified probably in association with PH Ⅲ.This is the first description and investigation on mutant gene analysis of PHⅢ in Asia.

Objective To describe the clinical characteristics,and to analyze the AGXT gene mutation in three siblings with primary hyperoxaluria type I (PHI).Methods AGXT gene mutation was analyzed by direct sequencing analysis in this family,and the minor allele status was also tested.One hundred unrelated healthy subjects were also analyzed as controls.Results Three mutations in AGXT were identified in each of three patients including two novel heterozygous missense mutations and one previously reported variant.One mutation was a methionine to leucine substitution at position 49 (p.M49L,c.145A ＞ C) in exon 1,one was an asparagine to isoleucine transition at codon 72 (p.N72I,c.215A ＞ T) in exon 2,and another was a heterozygous nonsense mutation at codon 333 (p.R333*).Both p.M49L and p.R333* occured in cis configuration with the minor allele IVS1 +74 bp.Conclusions Two novel mutations are identified probably in association with PHI,however their pathogenicity and potential molecular mechanisms should be explored by further investigations.This is the first investigation on mutant gene analysis of PHI in China.

Objective To investigate the clinical outcome of the feasible method of the free string type dorsalis pedis flap and anterior malleolus flap in the repairement of skin defects caused by penetrating wound of palm. Methods From May 2004 to July 2009, the free string-type dorsalis pedis flap and anterior malleolus flap were used to repair skin defects of 16 cases who sutained penetrating wounds of palm.Results All 32 flaps in the 16 cases were all survived. Follow-ups were done from 6 months to 2 years after operation. Both the appearances of the repaired palms and the functional recovery were satisfactory. The function assessment of the hand was excellent in 8 cases, good in 5 cases, fine in 2 cases and poor in 1 case.The eligible rate was 81.25%. Conclusion The anatomy of the dorsalis pedis flap and anterior malleolus flap is rare variant, which facilitate the dissection of the flaps during operation. The repairement of skin defects at two sides, both the palm and the back of hand, can be achieved via one operation. Therefore, the free string type dorsalis pedis flap and anterior malleolus flaps offer an ideal procedure to repair skin defects secondary to penetrating wound of palm.

Objective To evaluate right atrial function in patients with idiopathic dilated cardiomyopathy (IDCM) and ischemic cardiomyopathy (ICM) by using two-dimensional speckle tracking imaging (2D-STI).Methods Study population consisted of 31 patients with IDCM,30 with ICM and 30 healthy subjects.High frame rate two-dimensional images were recorded from the apical four chamber view.Right atrial global longitudinal strain (GLS) was measured using two-dimensional strain soft ware.Results Compared with the controls,left ventricular ejection fraction (LVEF),tricuspid annular plane systolic excursion (TAPSE),right ventricular fractional area change (RVFAC),right ventricular fractional shortening (RVFS) and tricuspid annular peak systolic velocity(S') decreased (P ＜0.05),while right ventricular myocardial performance index (MPI) increased in IDCM and ICM group.There were no significant differences for all above echocardiographic parameters between IDCM and ICM patients.Compared with the controls,right atrial GLS decreased significantly in patients with IDCM and ICM,even much lower in patients with IDCM (P ＜0.001).Conclusions Measurement of right atrial strain using 2DSTI could be used for the assessment of right atrial dysfunction in patients with ICDM and ICM.

Objective To investigate the outcome of the free double-skin paddle string-type composite fibular flap in the reconstruction of the combined defects of ulna and radium. Methods From June 2005 to July 2009, 5 cases with combined defects of ulna and radium were reconstructed using the free double-skin paddle string-type composite fibular flap. The length of fibular segment for the reconstruction of ulnar defect ranges from 4.5 to 7.5 cm. The length of fibular segment for the reconstruction of radial defect ranges from 5.5 to 7.0 cm. The size of the flap varies from 5.0 cm × 3.0 cm to 8.0 cm × 5.5 cm. At the 12 month follow-up, the function of reconstructed forearm was evaluated based upon Enneking scoring system.Results Ten flaps in the 5 cases all survived. The time for the transplanted fibula healed on the radium and ulna was 4-6 months. The 5 patients were followed up from 14 months to 2 years. The forearm rotation functions were excellent in 2 cases, good in 2 cases and poor in 1 case. The eligible rate was 80%. The average Enneking score was 24.8, which indicated an average of 81.3% recovery of limb function. Conclusion Bone graft with blood supply can ensure the activity of osteocytes, which facilitates the fracture union.Whilst, the procedure can reconstruct multi-location and multi-tissue defects in the forearm. Therefore, the double-skin paddle string-type composite fibular flap is an ideal alternative for the reconstruction of the combined defects of ulna and radium and the skin.