Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region / 中华医学遗传学杂志

OBJECTIVE@#To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies.@*METHODS@#Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene. Prenatal diagnosis was performed for couples whom were both found to be SMA carriers.@*RESULTS@#In total 62 SMA carriers were identified among the 3049 subjects, which yielded a carrier frequency of 1 in 49 (2.03%). No statistical difference was found in the carrier frequency between males and females (1.91% vs. 2.30%, P>0.05). Respectively, 1.3% (41/3049) and 0.69% (21/3049) of the carriers were caused by heterozygous deletion and conversion of the SMN1 gene. The average copy number for SMN1 alleles was 1.99. Two couples were found to be both as SMA carriers, for whom the birth of an affected fetus was avoided by prenatal diagnosis.@*CONCLUSION@#No difference was found in the carrier frequency of SMA-related mutations between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern. Determination of the carrier frequency for SMA and SMN gene variants may provide a basis for genetic counseling and prenatal diagnosis for the disease.

Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death / 法医学杂志

Objective T o explore the genetic variation sites of caveolin (C A V ) and their correlation w ith sudden unexplained death (SU D ).Methods The blood sam ples w ere collected from SU D group (71 cases), coronary artery disease (C A D ) group (62 cases) and control group (60 cases), respectively. T he genom e D N A w ere extracted and sequencing w as perform ed directly by am plifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PC R . T he type of heritable variation of CVA w as con-firm ed and statistical analysis w as perform ed. Results A total of 4 variation sites that m aybe significa-tive w ere identified in SU D group, and tw o w ere new found w hich w ere CAV1: c.45C>T (T 15T ) and CAV1:c.512G>A (R 171H ), and tw o w ere SN P loci w hich w ere CAV1:c.246C>T (rs35242077) and CAV3:c.99C>T (rs1008642) and had significant difference (P<0.05) in allele and genotype frequencies betw een SU D and control groups. Forem entioned variation sites w ere not found in C A D group. Conclu-sion T he variants of CAV1 and CAV3 m ay be correlated w ith a part of SU D group.

Genetic analysis and prenatal diagnosis for a pregnant woman with an unbalanced t(1;2), t(6;7) translocation and intellectual disability / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To provide genetic analysis for a pregnant woman with chromosomal translocations and intellectual disability, and to provide prenatal diagnosis for her fetus.</p><p><b>METHODS</b>Routine G-banding was performed to analyze the karyotypes of the woman and her fetus. Copy number variants were determined with array comparative genomic hybridization (array-CGH).</p><p><b>RESULTS</b>The pregnant woman has carried an apparently balanced translocation involving chromosomes 1, 2, 6 and 7, with a karyotype of 46, XX, t(1;2) (p22;p23), t(6;7) (q21;p15). The karyotype of her fetus was ascertained as 46, XY, t(6;7) (q21;p15) mat. Array-CGH has detected a 4 Mb microdeletion at 6q22.1-q22.31 (115 311 507-119 332 956) in both individuals. As the 6q22.1-q22.31 microdeletion may be associated with the main clinical manifestations of the woman, the family decided to terminate the pregnancy. The fetus was male and appeared to have no obvious abnormality.</p><p><b>CONCLUSION</b>Prenatal diagnosis for pregnant women with translocations and mental retardation is a challenging task. Combined application of cytogenetic analysis and array-CGH may facilitate the diagnosis and genetic counseling.</p>

Application of BoBs technique for detecting common chromosome microdeletion and microduplication syndromes / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish a strategy for screening and diagnosing common microdeletion and microduplication syndromes among children with idiopathic mental retardation and development abnormalities.</p><p><b>METHODS</b>Potential chromosomal variations among patients with unexplained mental retardation, cardiac anomalies, particular facial features, learning disabilities and other clinical characteristics were detected with bacterial artificial chromosome BACs-on-Beads (BoBs) technique and karyotyping. Positive results were verified with array-based comparative genomic hybridization (Array-CGH).</p><p><b>RESULTS</b>Fifty eight of the 60 patients had a normal chromosome karyotype. Ten patients with microdeletion and microduplication syndromes were detected by BoBs, which included two positive cases identified through chromosome karyotyping. Two patients were respectively diagnosed as Smith-Magenis syndrome and Prader-Willi/Angelman syndrome by BoBs and the results were confirmed by Array-CGH.</p><p><b>CONCLUSION</b>BoBs is capable of detecting chromosome microdeletion and microduplication with high specificity and throughput, which can compensate the shortcomings of conventional cytogenetic technology and will be widely applied for clinical diagnosis.</p>

Detection Rates and Influencing Factors of Atrial Septal Defect and Ventricular Septal Defect Among Live Births in Two Cities of East China / 中国循环杂志

Objective: To investigate the detection rates and inlfuencing factors of atrial septal defect (ASD) and ventricular septal defect (VSD) among neonates in two cities of East China and to provide scientiifc basis for the prevention, diagnosis, treatment and monitor of ASD and VSD. Methods: 2100 newborns with gestational age of at least 28 weeks were recruited consecutively from each city between 2013-09 and 2014-11. Data related to ASD and VSD were collected by questionnaires and echocardiographic screening was conducted within 7 days after birth. Results: A total of 4152 neonateswere examined with gestational age of (39.03 ± 1.29) weeks, among whom 2189 were male infants (52.72%), and age of mother was (26.32 ± 4.10) years old. Detection rates of ASD and VSD were 60.5‰ and 12.8‰ respectively, showing no significant difference between genders (P>0.05). Multivariate logistic regression analysis showed that maternal pre-pregnancy BMI and home decoration were the inlfuencing factors of ASD and maternal drug use in early pregnancy was the inlfuencing factor of VSD among newborns. Conclusions: Detection rates of ASD and VSD among neonates were relatively high in two cities of East China. Early screening is importtant to reduce the incidence of ASD and VSD and improve the prognosis.

Prenatal diagnosis of chromosome abnormalities and nine microdeletion syndromes using both traditional karyotyping and BoBs / 中华妇产科杂志

Objective To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. Methods From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis. Results Thirty-two cases with chromosome aneupoidies were successfully detected both by BoBs and karyotyping, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, and 7 cases with sex chromosome abnormality. All 8 fetuses with chromosome structural abnormalities detected by karyotyping were missed by BoBs;while BoBs contributed more in detection of five microdeletion syndrome cases, including 3 cases of DiGeorge syndromes (two with microduplication and one with microdeletion), one case of Miller-Dieker syndrome, and one case of Wolf-Hirschhorn syndrome. Conclusion Combined use of traditional karyotyping and BoBs, is a rapid and effective prenatal diagnosis model that may enlarge our horizon on chromosomal diseases and should be widely used in future clinical service.

Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mutations of phenylalanine hydroxylase (PAH) gene in 20 phenylketonuria (PKU) patients from Yunnan.</p><p><b>METHODS</b>The 13 exons and the splicing regions of 12 introns of the PAH gene were sequenced to detect mutations in 20 unrelated PKU patients.</p><p><b>RESULTS</b>PAH gene sequencing has revealed 15 types of mutations, in which the most frequently mutation was p.R243Q (30.0%), followed by p.Y356X(10.0%), p.R111X (7.5%), IVS4+2T>A (7.5%) and p.V399V (7.5%). Exons 7, 11, 3 and introns 4, 11 were most frequently involved. Six novel mutations, including c.59A>C, c.60G>C, c.690_691insG, c.1119_1120insT, c.441+2T>A, c.842+4A>T and c.1200+1T>G were detected.</p><p><b>CONCLUSION</b>PAH gene mutations identified in Yunnan are more similar to those of northern China, with R243R being the most common, though there are still certain characteristics for the type and frequency of mutations.</p>

Genetic analysis and prenatal diagnosis of Xp deletion in a family with Duchenne/Becker muscular dystrophy / 中华医学遗传学杂志

OBJECTIVE To delineate a deletional mutation of the Dystrophin gene on the short arm of chromosome X in a family affected with Duchenne/Becker muscular dystrophy. METHODS G-banded karyotyping, multiple ligation probe amplification (MLPA), array-based comparative genomic hybridization(array-CGH) and whole genome exon high-throughput sequencing were employed to delineate the mutation in the family. RESULTS GTG banding has demonstrated deletion of the terminal part of the short arm of chromosome X in the fetus. The same deletion was also found in its mother and maternal grandmother. MLPA analysis has revealed removal of exons 52 to 79 of the Dystrophin gene. A 30 Mb deletion in Xp22.33-p21.1 and a 10 Mb duplication in Xq27.2-q28 were identified by array-CGH and whole genome exon high-throughput sequencing. CONCLUSION The Xp deletion has led to deletion of exons 52 to 79 of the Dystrophin gene in the family. The female carriers also had certain features of Turner syndrome due to the same deletion.

Genetic diagnosis of 154 patients with suspected spinal muscular atrophy and its clinical value / 中华检验医学杂志

Objective To explore the clinical value of genetic diagnosis of SMA,the homozygous deletion of survival motor neuron 1 (SMN1) gene in suspected spinal muscular atrophy (SMA) patients were analyzed in this study.Methods A total of 154 patients suspected with SMA and 20 healthy volunteers were recruited from January 2007 to December 2014 in the Genetic Diagnosis Center of the First People's Hospital of Yunnan Province and the Department of Neurology of the Fourth Affiliated Hospital of Kunming Medical University.Potential deletions in exons 7 and 8 of SMN1 gene were screened by use of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method in both 154 patients suspected with SMA and 20 healthy volunteers.The frequencies of the deletions in exons 7 and 8 of SMN1 were calculated and statistical analysis of different deletion types among 3 SMA groups was performed with SPSS 13.0 software package.Results Among 154 suspected SMA patients,101 cases with homozygous deletions of exon 7 of SMN1 gene were detected,which accounted 65.6％ (101/154) of the suspected SMA patients.Among the 101 SMA patients,97.0％ (98/101) of the patients with both homozygous deletions of exons 7 and 8 for SMN1 gene and 3.0％ (3/101) of the patients with homozygous deletions of only exon 7 for SMN1 gene were detected.The patient with only deletion of exon 8 for SMN1 gene was notdetected.Four cases with negative results were subjected to be followed-up,but they were characteristic of SMA symptom by clinical re-visit.Thus,total 105 patients were confirmed with SMA,among them,68 were type Ⅰ SMA,27 were type Ⅱ SMA,and 10 were type Ⅲl SMA,which accounted for 64.8％ (68/105),25.7％ (27/105) and 9.5％ (10/105) of the SMA patients,respectively.Type Ⅳ SMA was not observed in these patients.No deletion was detected among 20 healthy volunteers.Conclusions PCR-RFLP assay is a noninvasive,simple,high sensitive and specific method for SMA diagnosis,which can be considered as the first-line genetic test for the suspected SMA patients.It will help to improve the accuracy of clinical diagnosis and the detection rate by strengthening the clinical diagnostic criteria and re-evaluating the suspected patients after negative genetic diagnosis.

Study of glycemic fluctuation impact on angiopoietin-2 and endoplasmic reticulum stress in type 2 diabetes complicated with acute phase of acute coronary syndrome / 中华内分泌代谢杂志

Objective To investigate the changes in angiopoietin 2 and endoplasmic reticulum stress,and the prognosis of acute phase of coronary syndrome (ACS) in type 2 diabetic patients with glycemic fluctuations.Methods Seventy-eight cases of consecutive diabetic patients with ACS within 7 days were enrolled.Another 78 cases of non-diabetic patients with ACS were selected as control.Risk assessment with global acute coronary events (GRACE) score in patients with ACS,dynamic blood glucose monitoring system (CGMS) for three days,realtime PCR analysis of angiopoietin-2,within the reticulum stress-related heavy chain binding protein (Bip),inositol kinase demand Ⅰ (IREI),endoplasmic reticulum class should PKR kinase (PERK),oxygen-regulated protein 150 (ORP150),activating transcription factor 6 (ATF6),X-box binding protein 1 (XBP1)mRNA expression change,phosphorylation of eukaryotic translation initiation factor 2oα (p-eIF2α) by western blotting angiopoietin-2,parameters were compared between the two groups.Correlation analysis with GRACE score ; while angiopoietin-2 parameters and glycemic fluctuation,endoplasmic reticulum stress-related genes correlation analysis were made.Results (1) ACS group average daily blood glucose fluctuations(MAGE),mean absolute difference daytime blood glucose (MODD),and postprandial blood glucose fluctuation (MPPGE) and the maximum amplitude of glycemic excursions (LAGE) were significantly higher [MAGE(5.13 ± 1.19) vs (3.19 ± 0.55) mmol/L,MODD (2.59 ± 0.72) vs (1.72 ± 0.63) mmol/L; MPPGE (3.51 ± 1.01) vs (2.58 ± 0.55) mmol/L and LAGE (7.75 ± 2.39) vs (4.34 ± 0.85) mmol/L,all P＜0.05].(2)In ACS group angiopoietin-2,endoplasmic reticulum associated genes Bip,IREI,PERK,ORP150,ATF6,XBP1,and monocyte chemoattractant protein 1 (MCP-1) mRNA expression levels as compared with the control group were statistically significant(all P＜0.05) ; Angiopoietin-2,protein p-eIF2α were higher(P＜0.05).(3) In the ACS group with pearson correlation analysis,angiopoietin-2 and MAGE,LAGE,MPPGE correlation (r =0.432,0.279,0.386,all P＜0.05),Bip and MAGE,LAGE,MPPGE correlation(r =0.783,0.589,0.887,all P＜ 0.05) ; IREI and MAGE,LAGE,MPPGE,MODD correlation (r =0.567,0.783,0.569,0.823,all P＜0.05) ; PERK and MAGE,MPPGE,MODD correlation(r =0.687,0.902,0.709,all P＜0.05) ; ORP150 and MAGE,LAGE,MPPGE,MODD correlation(r=0.779,0.871,0.775,0.689,all P＜0.05) ; ATF6 and MAGE,LAGE,MPPGE,MODD correlation(r =0.873,0.675,0.893,0.884,all P＜0.05),while XBP1 with no correlation with glycemic fluctuations (P＞0.05).(4) The endoplasmic reticulum stress gene was related to MCP-1 and blood glucose fluctuation parameters.(5) Multiple Logistic regression analysis revealed that LAGE,MPPGE,Bip,IREI,PERK,ORP150,ATF6 were risk factors affecting angiopoietin-2,and angiopoietin-2,ages,MAGE,homeostasis model assessment for insulin resistance,Bip,ATF6 were risk factors affecting GRACE.(6) The ejection fractions of the ACS patients showed negative correlation with MAGE and LAGE,multiple linear regression analysis showed that age,HOMA-IR,Ang-2,and MAGE,Bip,ATF6 established the linear regression relation with ejection fraction.Conclusion Glycemic fluctuations cause angiopoietin-2 to rise and lead to increased endoplasmic reticulum stress and affect the prognosis of diabetic patients with ACS.

Survey on knowledge of home blood pressure monitoring in community physicians of Zhejiang province / 中华全科医师杂志

Objective To survey on knowledge of home blood pressure monitoring (HBPM) in community physicians of Zhejiang province.Methods One hundred and thirty eight community physicians from Xiacheng District of Hangzhou Municipality were assigned in intervention group (n =70) or control group (n =68).The knowledge of home blood pressure monitoring was surveyed by using the China HBPM questionnaire in both groups.Results Total 132 valid questionnaires were returned,including 70 from intervention group and 62 from control group.The results showed that 80.0％ (61/70) physicians in intervention group and 62.9％ in control group frequently suggested hypertensive patients to have HBPM in out-patient clinics (P ＜ 0.05).Physicians who correctly instructed patients to use upper arm electronic sphygmomanometer,to measure blood pressure in morning and night,to repeat 2-3 times each time,to record result 3 times,and to take ≥ 135/85 mmHg(1 mmHg =0.133 kPa) as criteria of hypertension in intervention and control groups were 67.1％ (47/70) versus 32.3％ (20/62),5.7％ (39/70) versus 29.0％ (18/62),92.9％ (65/70)versus 66.7％ (40/62),38.6％ (27/70)versus 6.4％ (4/62)and 57.1％ (40/70) versus 38.7％ (24/62),respectively,and the differences between two groups were all statistically significant (P ＜ 0.05).As for measuring frequency,92.9％ (65/70) physicians in intervention group and 67.7％ (42/62) in control group considered that blood pressure should be measured every day for poorly controlled patients ; 81.4％ (61/70) versus 14.5 ％ (9/62) considered that blood pressure should be measured every week for well-controlled patients; 87.1％ versus 35.5％ (22/62) considered that blood pressure should be measured every year at least for people with normal blood pressure; there were significantly differences between two groups (P ＜ 0.05).The community physicians generally considered that HBPM can be used to improve the awareness of hypertension for patients and to increase the blood pressure control rate in community.

Risk factors of chronic disease for high-risk population and its application in community / 中华全科医师杂志

The individual intervention control of risk factors in high-risk population is one of key preventive measures of chronic disease.A total of 312 volunteers consulted physicians in one selected community.And 23 high-risk individuals of chronic disease were screened.The physicians customized the limit or requirement of diet,activity,tobacco and alcohol for each individual and made interventions of life behaviors according to the plans.The results showed that physical state of 20 (87％) of them converted from high-risk to health after interventions.Therefore customized control plan of individual risk factors is an effective control method of chronic disease.

Training general practitioners in hypertension management with expert-guided network tracing system / 中华全科医师杂志

Objective To evaluate the application of “expert-guided network tracking system” in training community general practitioner for hypertension management.Methods Total 855 general practitioners (GPs) from 20 community health service centers in Hangzhou,Jiaxing and Shaoxing of Zhejiang province were divided into two groups: 430 GPs from 10 community health centers received training for hypertension management using “ expert-guided networking tracking system” (intervention group) in December 2008 and 425 GPs from another 10 health centers received conventional training (control group).Questionnaire surveys about the knowledge and skill of hypertension management were conducted before and 3 y after training.Results The awareness rates of knowledge about hypertension prevention and control,non-drug therapy and drug therapy increased from 37.0％ (159/430),45.6％ (196/430),42.8％ (184/430) to 66.8％ (284/425),81.4％ (346/425),77.6％ (330/425),respectively and the accuracy of case analysis increased from 38.4％ (490/1290) to 73.3％ (946/1290) (P ＜0.01) after training in intervention group.Meanwhile the knowledge and case management abilities in control group were also improved after conventional training,but the degree was significantly lower than that in the intervention group.Conclusions “Expert-guided networking tracking system” can significantly improve the knowledge and skills for hypertension management in community general practitioners.

Femoral artery ligation for the treatment of femoral artery pseudoaneurysm secondary to drug injection / 中华普通外科杂志

Objective To evaluate femoral artery ligation for femoral artery pseudoaneurysm secondary to drug injection. Methods Clinical data of 32 drug addicts of femoral artery pseudoaneursysm caused by drug injection undergoing femoral artery ligation and local debridement were reviewed retrospectively.The blood supply of affected limb was evaluated by oxygen saturation of distal limb and its function.All the cases were followed up at 3,6,9,and 12months after the operation. Results Surgery was successful in all cases. There were no significantly difference of the limb oxygen saturation between postoperative and preoperative period (95.1％ ± 2.8％ vs.96.9％ ± 1.9％ ; t =1.26,P =0.25 ).White blood cells and neutrophils percentage significantly decreased after surgery.All patients were followed up for 1 year.Lower extremity ischemia after 6 hours of operation in one case treated by autologous saphenous vein bypass recovered. On 3 months mild claudication was observed in 5 cases. On 6 months claudication remained in only 2 cases,which disappeared on 9 months.All patients were able to maintain normal life.Conclusions Femoral artery ligation is a safe, effective and simple treatment modality for femoral pseudoaneurysms secondary to drug injection.

Study on key techniques and intervention in reducing birth defects / 中华妇产科杂志

ObjectiveTo investigate key techniques and intervention in reducing birth defects. Method Down's syndrome (DS), trisomy-18 (Edwards syndrome, ES), neural tube defects (NTD), Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), thalassemia, and glucose-6-phosphate dehydrogenase deficiency (G6PD) were chosen as target disease. From Jan. 2007 to Dec. 2009, the condition of intake folie acid were investigated in 5004 pregnant women in Panlong District and Wuhua District of Kunming City. All of the 27 660 pregnant women undergoing prenatal examination were enrolled into the study from the First People's Hospital of Yunnan Province, the Second People's Hospital of Yunnan Province, the First People's Hospital of Qujing City, the Second People's of Qujing City, Qujing Women and Children's Hospital, People's Hospital of Lincang City, Kunming Maria Women's Hospital, Maternal and Infant's Care Unit of Panlong District of Kunming City, Maternal and Infant's Hospital of Dali City. The screening was performed on serum of those pregnant women at 8 -20 +6 gestational weeks. Prenatal cytogenetic analysis and fetal ultrasonogrspy were performed on the high risk or indicated women after genetic counseling. DNA analysis was administered on those women with family or childbearing history of DMD,SMA,thalassemia,orG6PD. Outcomeof pregnancywasfolloweduptoevaluatetheeffectof intervention. ResultsApproximately 30. 10％ (1506/5004) of pregnant women were administered by oral folic acid during perinatal period. Two thousand three hundred and thirteen women with high risks of DS,ES, or NTD fetuses were observed among 27 660 undergoing maternal serum screening. Two thousand and ninety-six pregnant women including two twins pregnant women were performed cytogenetic analysis. Other 67 pregnant women at high risk of DMD, SMA, thalassemia, and G6PD accepted genetic counseling and prenatal gene analysis. Two thousand one hundred and sixty-three pregnant women (2165 fetuses) underwent prenatal examination. One hundred and two cases chromosome abnormalities, 17 cases NTD, 4 cases DMD, 1 cases α-thalassemia major were found. All of the 91 fetuses with major birth defects were terminated after genetic counseling. Another affected DS fetus in a twin pregnancy dead intrauterine at 24 gestational weeks. Thirty-two women bearing fetuseswithbalancedtranslocations orinversionscontinuedtheir pregnancies. Totally 2071 normal term fetuses were born in the prenatal diagnosis group. Two fetuses with normal chromosome were lost within 1 week after amniocentesis. Four affected DS fetuses were born from their high risk mothers who refused further prenatal diagnosis service. In a random sampling follow-up cohort of 5000 mothers at low risk, none of affected child suffering target diseases was found. The DS detection rate of maternal serum screening was 84％ (27/32), with the false positive rate was 6. 153％ (1702/27 660).ConclusionsFolic acid intake before conception and in the first trimester would reduce the risk of birth defects, only 1/3 reproductive women took folie acid actively. Maternal serum screening could effectively detect high risk of DS, ES and NTD. The genetic counseling is critical in women at high risk or who had family history of inherited disorders. The prenatal screening and diagnosis combined with routine obstetric care could reduce the incidence of major birth defects, which should become prenatal care strategy in our country.

Detection of Chromosome 6 Aberration in Lung Carcinoma Using Fluorescence in Situ Hybridization(FISH) / 医学研究杂志

Objective To study the relationship between chromosome aberration and the pathogenesis,development and prognosis of lung carcinoma. Methods Tissue speciments from 30 cases of lung carcinoma and 10 cases of normal lung tissue were detected using FISH with chromosome 6 probe,respectively. Results All of the 30 cases of lung carcinoma were found chromosome 6 aberration,involved monosomy,trisomy,and even heptasomy.But there was no chromosome 6 aberration found in normal lung tissues.The significant difference was between these two groups. Conclusion Chromosome 6 aberration may occur in the early stage of lung carcinoma,which may closely relate with the process of pathogenesis,development of lung carcinoma.The chromosome 6 aberration may have the significant association with clinical phase and pathological differentiation among the patients.

Obervations on the clinical efficiency of autologous bone marrow stem cell transplantation on chronic ischemic disease of lower limb / 中国普通外科杂志

Objective To explore the application of autologous bone marrow stem celI transplantation in the treatment of chronic ischemic disease of lower extremity and evaluate the effect.Methods Forty patients with chronic ischemic limbs were treated from January 2008 to April 2009.The bone marrow of each patient was stimulated by an injection of the recombinant human granulocyte macrophage colony-stimulatory factor(GCSF),300?g /d,for 2-3 days.Then,200 mL of bone marrow was withdrawn from the iliac spine and the stem cells were obtained.After the bone marrow separation and purification,they were transplanted into the more severely ischemic limb.After the transplantation,they were foIlowed up by phone once a month for six months.The skin temperature,transcutaneous oxygen pressure(TcPO2),digital subtraction angiography(DSA)and ankle/brachial index(ABI)were rechecked at 6 months later,and the symptoms of pain,cold,numbness,intermittent claudication and physical signs of ulcer and gangrene were also evaluated.Results All of the 40 patients were followed-up.At 6 months post-transplantation,the various indices were compared with before transplantation.(1)The skin temperature and TcPO2 had significante improvement (P0.05).(3)DSA and all of the clinical symptoms showed general improvement in more than 60% of cases.(4)There were no serious complications.Conclusions Transplantation of stimulated autologous bone marrow stem cells is effective in the treatment of ischemic disease of lower limb,which is a simple,safe and effective treatment for ischemic disease of lower limb.