Environmental and meteorological factors on the risk of lipid-abnormal dry eye / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To investigate the impact of meteorological factors in different environments in the eastern and western regions of China on the incidence of lipid-abnormal dry eye.METHODS: This is a multicenter retrospective study. From March 1, 2021 to February 28, 2022, all patients with dry eye were selected from the ophthalmology clinic of Nanjing Hospital of Chinese Medicine Affiliated to Nanjing University of Chinese Medicine and Friendship Hospital of Xinjiang Yili Kazakh Autonomous Prefecture. General data(gender, age, employment and education)and climate data for outdoor environments(temperature, humidity, air quality index and wind)on the day of the visit were collected. Patients who met the inclusion and exclusion criteria were selected. Single factor, multiple factors and nonlinear model analysis were applied to identify environmental factors of lipid-abnormal dry eye in both regions.RESULTS: There was no significant difference in the incidence of lipid-abnormal dry eye between Nanjing and Yili in different seasons. The incidence of lipid-abnormal dry eye in Yili was significantly higher in all seasons than in Nanjing(P<0.001). The results of univariate research showed that the factors affecting the incidence of lipid-abnormal dry eye were gender, employment, humidity, air quality, and wind. The results of multivariate Logistic regression analysis showed that humidity, temperature and air quality were statistically significant, and remained significant after adjusting for the three confounding factors of age, gender and employment situation. Nonlinear analysis showed that the probability of lipid-abnormal dry eye increased with the decrease of temperature when the temperature was below 10℃; within the range of 10℃～15℃, the probability of lipid-abnormal dry eye tended to stabilize. When the temperature exceeded 15℃, the probability of lipid-abnormal dry eye increased with the increase of temperature. Humidity was negatively correlated with the onset of lipid-abnormal dry eye. As humidity increased, the probability of lipid-abnormal dry eye decreased.CONCLUSIONS: The risk of lipid-abnormal dry eye in Yili is higher than that in Nanjing throughout the four seasons. Humidity, temperature, air quality and other environmental and meteorological factors can all affect the incidence of lipid-abnormal dry eye.

Epidemiological characteristics of lower extremity deep venous thrombosis in patients with femoral fracture / 中华创伤骨科杂志

Objective:To investigate the epidemiological characteristics of lower extremity deep vein thrombosis (DVT) in patients with femoral fracture.Methods:Retrospectively analyzed were the data of 2,571 patients with femoral fracture who had been treated at the Third Hospital of Hebei Medical University from January 2019 to December 2019. There were 1,079 males and 1,492 females, aged from 14 to 96 years (average, 67.1 years). There were 1,158 femoral neck fractures, 951 femoral intertrochanteric fractures, 309 femoral shaft fractures, and 153 femoral condylar fractures. 2,414 patients were treated surgically while 157 patients non-surgically. Color Doppler ultrasonography of both lower extremities was performed to determine the occurrence of DVT before operation and every week after operation for patients undergoing surgical treatment, and within 48 hours after admission and every week during hospitalization for those undergoing non-surgical treatment. The incidence and location of DVT were recorded for different femoral fractures.Results:The incidence of DVT in this cohort was 35.5%(913/2,517), that of proximal DVT 5.3%(135/2,571), and that of distal DVT 30.3% (778/2,571). In patients with femoral neck fracture, femoral intertrochanteric fracture, femoral shaft fracture and femoral condylar fracture, the incidence of DVT was respectively 28.8% (334/1,158), 44.7% (425/951), 30.7% (95/309) and 38.6% (59/153), the incidence of proximal DVT was respectively 2.7% (31/1,158), 5.6%(53/951), 9.7% (30/309) and 13.7% (21/153), and the incidence of distal DVT was respectively 26.2% (303/1,158), 39.1% (372/951), 21.0% (65/309) and 24.8%(38/153). The incidence of DVT in the femoral vein and above, popliteal vein, tibiofibular vein and intermuscular vein in this cohort was respectively 2.3%(60/2,571), 2.9%(75/2,571), 6.4%(165/2,571) and 23.8%(613/2,571).Conclusions:The incidence of DVT may be high in patients with femoral fracture, and the proximal DVT with a high risk of pulmonary embolism may occur more in patients with femoral condylar fracture.

Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a family affected with congenital heart defects.@*METHODS@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*RESULTS@#G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*CONCLUSION@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.

Genetic diagnosis for fetal Bardet-Biedl syndrome caused by BBS7 gene mutations: report of two cases / 中华围产医学杂志

Objective:To summarize the genetic diagnosis of two fetuses with clinically suspected Bardet-Biedl syndrome (BBS) and to provide information for genetic counseling and prenatal diagnosis of BBS.Methods:Case one had prenatal care on October 2018 in Shenzhen Maternity and Child Healthcare Hospital and was clinically suspected of fetal BBS as bilateral renal parenchyma echo enhancement as well as polydactyly (six toes on each foot) were shown on ultrasonic examination at 18 +1 gestational weeks. Case two was another suspected fetal BBS for enlarged kidneys with echo enhancement as well as polydactyly (six fingers and toes on each hand and foot) on ultrasonic examination at 26 +4 gestational weeks on August 2016 and the parent requested for termination. Parents of both cases requested for genetic analysis. Amniotic fluid sample was obtained in case one at 19 +6 weeks through amniocentesis, and umbilical cord specimen of case two and peripheral blood samples of the parents were collected. Genetic analysis of the fetuses and their parents was performed using exon capture and next-generation sequencing and the results were validated using Sanger sequencing. Results:Case one carried paternally inherited c.718G>A (p.Gly240Ser) (possible pathogenic) mutation and maternally inherited c.497C>A(p.Ala166Asp) (possible pathogenic) mutation in BBS7 gene. While one paternally inherited mutation c.1002delT(p.N335Ifs*47) (pathogenic) and one maternally inherited heterozygous mutation c.728G>A (p.Cys243Tyr) (possible pathogenic) were identified in BBS7 gene of case two. The three unreported missense mutations were predicted to be harmful by bioinformatics software and the mutation sites were conservative after comparing with multiple species-based protein sequences. Conclusions:Enlarged kidneys with echo enhancement and polydactyly may indicated a BBS fetus caused by BBS7 gene mutation. Whole exome sequencing could provide relevant information for prenatal diagnosis and genetic counseling in these cases.

Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a family affected with congenital heart defects.@*Methods@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*Results@#G-banding karyotyping showed the patient was 45, XY, rob(15; 21)(q10; q10)[36]/46, XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*Conclusion@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.

Effect of body position on the hemodynamics of lower extremity vein / 中华创伤骨科杂志

Objective:To observe the impacts of different postures on the hemodynamics of lower extremity vein.Methods:In this single center non-randomized controlled study in 15 healthy female volunteers, the hemodynamic changes in the common femoral vein were detected by color Doppler ultrasound at 10 different postures: supine position, slope positions with bed end elevated at 15°, 30° and 45°, trapezoidal positions with bed end elevated at 15°, 30° and 45°, and positions with bed head elevated at 30°, 45° and 60°.Results:Different postures resulted in significant differences in the velocity of blood flow in the common femoral vein ( P<0.05), with slope position at 45°> slope position at 30°> slope position at 15° = trapezoidal position at 30°> trapezoidal position at 15° = trapezoidal position at 45°> supine position> position with bed head elevated at 30°> position with bed head elevated at 45° = position with bed head elevated at 60°. Conclusions:In the postures observed in this study, the slope position with bed end elevated at 45° can promote the most effectively the blood reflux in the lower extremity vein, the trapezoidal positions with bed end elevated may not facilitate the distal blood reflux in the lower extremity vein, and positions with bed head elevated may hinder the blood reflux in the lower extremity vein.

Chromosomal microarray analysis of 339 fetuses with increased nuchal translucency and normal karyotype / 中华围产医学杂志

Objective To explore the value of chromosome microarray analysis (CMA) in determining the genetic etiology of fetuses with increased nuchal translucency (NT) but normal karyotype. Methods Amniocentesis, karyotype analysis and CMA were performed to singleton pregnant women with increased fetal NT ( ≥ 3.0 mm) in early pregnancy (11+1-13+6 gestational weeks) at Shenzhen Maternity and Child Healthcare Hospital from March 2015 to December 2017. A total of 339 fetuses with normal G banding karyotype analysis were recruited retrospectively. Peripheral blood samples were collected for CMA in parents whose fetuses were detected with pathogenic copy number variations (CNVs) or variants of uncertain significance (VUS). Descriptive analysis was used for CMA results. Moreover, Pregnancy outcomes and postnatal conditions of fetuses with abnormal CNVs were followed up. Results Pathogenic CNVs, ranging from 68 kb to 12.636 Mb, were detected in 15 out of the 339 fetuses (4.4%) including four microduplications and 11 microdeletions. Among them, there were eight known microdeletion or microduplication syndromes (nine cases) including Williams-Beuren syndrome, 18p deletion syndrome,Wolf-Hirschhorn syndrome, 22q11 duplication syndrome, 16p11.2 deletion syndrome, 17p13.3 duplication syndrome, 16p11.2 duplication syndrome (one case respectively) and DiGeorge syndrome/velocardiofacial syndrome (two cases). Of the 11 fetuses with VUS, five cases originated from parents with normal phenotype and the identified VUS were benign and the rest six were de novo mutations[1.8%(6/339)]. Of the 15 fetuses with pathogenic CNVs, one was lost to follow-up, four were live born and two of which was found to be growth retardation at the age of two. Among the 11 fetuses with VUS, nine were live born and no abnormality was reported in any cases at one year old. Conclusions For fetus with increased NT and normal karyotype, CMA is able to identify chromosomal microdeletion/microduplication that are not recognized by conventional karyotyping analysis, and may play an important role in prenatal diagnosis and genetic counseling.

Prenatal diagnosis of Jacobsen syndrome: analysis of four cases / 中华围产医学杂志

Objective To investiget the value of chromosome microarray analysis (CMA) in prenatal diagnosis of Jacobsen syndrome.Methods Among all gravidas who received karyotype analysis and CMA because of fetal congenital cardiac abnormalities in Shenzhen Maternity & Child Healthcare Hospital Affiliated to Southern Medical University from 2014 to 2016,four were diagnosed with fetal Jacobsen syndrome and enrolled in this study.Three amniotic fluid and one fetal tissue samples were collected.Peripheral blood specimens were collected from parents of these fetuses.Amniotic fluid samples and peripheral blood specimens were analyzed by karyotype analysis.CMA was performed to analyze amniotic fluid and fetal tissue samples.Multiplex ligation-dependent probe amplification was used to verify abnormal results revealed by CMA.Results (1) Prenatal ultrasound results:Fetus 1 was complicated with monocardian and transposition of the great arteries,fetus 2 with single umbilical artery and double superior vena cava,fetus 3 with severe constricted aorta and ventricular septal defect and fetus 4 with hypoplastic left heart syndrome and presented with a nuchal translucency of 0.27 cm.(2) Karyotyping results of the three amniotic fluid samples were 46,XY,del(11)(q23.3),46,XX,del(11)(q23.3) and 46,XX,del(11)(q23),respectively.(3) CMA results of the four fetuses were arr[GRCh37]11q24.1q25(121 872 273-134 934 196)× 1(13.062 Mb),arr[GRCh37]11q24.1q25(121 325 694-134 937 416)× 1 (13.611 Mb),arr[GRCh37]11q23.3q25(118 977 029-134 937 416)× 1 (15.960 Mb) and arr[GRCh37]11q24.1q24.3(123 144 040-130 308 335)× 1(7.164 Mb),respectively.All chromosomal aberrations in these fetuses were de novo as no abnormalities were found in their parents through karyotyping.All abnormal CMA results were confirmed by multiplex ligation-dependent probe amplification.Conclusions Jacobsen syndrome should be considered when fetuses are diagnosed with congenital cardiac abnormalities by ultrasound.CMA can be used to accurately diagnose Jacobsen syndrome and determine the region and size of chromosome deletion.

Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex / 中华医学遗传学杂志

OBJECTIVE To provide prenatal diagnosis for families affected with tuberous sclerosis complex and explore the correlation between phenotype and genotype. METHODS For probands from 10 families, all exons and splicing regions of the TSC1 and TSC2 genes were analyzed with high throughput DNA sequencing. Suspected mutations were verified by Sanger sequencing. RESULTS All probands were found to have mutations, which included 1 case with TSC1 mutation and 9 cases with TSC2 mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case). Prenatal diagnosis was provided for 9 cases, and 1 fetus was found to carry a mutation. Genetic analysis has identified a novel pathogenic mutation (TSC2 c.2415-2416 ins GT). CONCLUSION Identification of pathological mutations for tuberous sclerosis complex can facilitate genetic counseling and prenatal diagnosis for the affected families.

Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects.</p><p><b>METHODS</b>The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).</p><p><b>RESULTS</b>Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV.</p><p><b>CONCLUSION</b>Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.</p>

Second-look arthroscopic evaluation of reconstructed anterior cruciate ligament using deep-frozen tendon allograft / 中华骨科杂志

Objective To evaluate the clinical outcomes and report the second-look arthroscopic findings of reconstructed anterior cruciate ligament (ACL) using deep-frozen allograft.Methods Sixty-six patients undergoing ACL reconstruction using deep-frozen allograft in our institute with at least twelve months follow-up from January 2012 to March 2016 were included and received second-look arthroscopy.The patients consisted of 51 males and 15 females with an average age of 30.6 years (range,18 to 55 years) at the time of ACL reconstruction.Knee functions were evaluated by Lysholm score and International Knee Documentation Committee (IKDC) score.Knee stability was evaluated by drawer test,Lachman test and KT-1000 arthrometer.Second-look arthroscopic evaluation was performed in all patients,focused on continuity of the reconstructed ACL,the synovial coverage and subjective tension of the graft,and the prevalence of cyclops-like lesion and other changes after reconstruction procedures.Resuits All patients were followed up for average 18.3 months (range,12 to 36 months).Thirty-one patients underwent second-look arthroscopy from 12 to 18 months,and the other 35 patients underwent second-look arthroscopy from 18 to 36 months after ACL reconstruction.No infection,rejection reaction and other serious complication were reported after operation.The knee range of motion was normal in all cases,except that 10° extension limitation in one case.The Lysholm score significantly improved from preoperative 54.95±9.01 to 12 months postoperatively 86.14±5.86,and the IKDC improved from 54.79±9.12 to 85.11±5.77.Lachman test was positive in 8 cases,but negative in 58 cases postoperatively.KT-1000 arthrometer measurement showed that the side-toside difference significantly improved from preoperative 6.70± 1.24 mm to postoperative 1.52± 1.02 mm.Complete discontinuity occurred in 2 cases of the reconstructed grafts,graft tear in 4 cases.Cyclops-like mass was identified in 2 cases.The overall synovial coverage was slightly better in the patients who were followed up more than 18 months than those less than 18 months.However,there was no significant difference among the groups in the field of graft tension.The patients with taut grafts showed statistically better KT-1000 values (1.14±0.35 mm) than those with lax grafts (2.95±1.38 mm).Conclusion Frozen allograft could be a reasonable choice for ACL reconstruction.However,the graft integration and remodeling could tend to be slow.

Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family.</p><p><b>METHODS</b>DNA was extracted from peripheral blood samples derived from the proband, his parents and elder sister, as well as amniotic fluid from his pregnant mother. All of the 10 exons of the SLC22A5 gene were amplified by PCR and subjected to Sanger sequencing. The amniotic fluid sample was also subjected to G-banded karyotyping and multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>A homozygous mutation c.760C>T (p.R254X) of the SLC22A5 gene was detected in the proband. Heterozygous mutation c.760C>T (p.R254X) was also found in other family members including the fetus. The karyotyping and chromosomal microdeletion testing for the amniotic fluid sample were both normal.</p><p><b>CONCLUSION</b>The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. Genetic counseling and prenatal diagnosis have been provided for this family.</p>

A study on orthodontic recognition and treatment demand among undergraduates / 预防医学

Objective Toinvestigatetheorthodonticrecognition,treatmentdemandanditsinfluencingfactorsamong undergraduates.Methods Usingstratifiedrandomsamplingmethod,600undergraduateswereselectedaccordingtotheir departmentsandgradesandthenaquestionnairesurveywasconducted.Results Therateofstudentswhohavethe demand of orthodontic treatment was 33.6%.The score of the recognition of orthodontic treatment was 2.94 ±1.543 (total score is 6).The grade,dental self-confidence,being laughed at their teeth by others,the influence from their friends who had taken orthodontic treatment,avoiding showing their teeth when smiling,the score of recognition were influencing factors of the demand of orthodontic treatment by Chi square test (all P<0.05 )while the latter four factors were related factorsbylogisticregression(allP<0.05)withtheORof2.14,2.78,2.18and1.20respectively.Conclusion The recognition of orthodontic treatment among undergraduates is limited.Psychosocial factors and recognition play an important role in the demand of orthodontic treatment.

A novel mutation in GCH1 gene causes dopa-responsive dystonia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of the GCH1 gene in a Chinese family affected with dopa-responsive dystonia.</p><p><b>METHODS</b>Genomic DNA of patients was extracted from peripheral blood samples. The 6 exons of the GCH1 gene and at least 100 bp of flanking intronic sequences were amplified with PCR. Potential mutations were screened by direct sequencing. Identified mutation was verified with denaturing high performance liquid chromatography (DHPLC) in 100 healthy controls.</p><p><b>RESULTS</b>All patients were found to be heterozygous for a novel c.597delT (p.Ala200LeufsX5) deletion in the exon 5 of the GCH1 gene. The deletion of T has resulted in formation of a shorter (203 amino acids) truncated non-functional guanosine triphosphate cyclohydrolase I. The same mutation was not found in the 100 controls.</p><p><b>CONCLUSION</b>A novel GCH1 gene frameshifing mutation probably underlies the dopa-responsive dystonia in this Chinese family.</p>

Genetic analysis and prenatal diagnosis of two Chinese families with split hand foot malformation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify genomic aberrations underlying pathogenesis of split hand foot malformation (SHFM) in two Chinese families, and to provide genetic counseling and prenatal diagnosis for them.</p><p><b>METHODS</b>Two sets of peripheral blood and amniotic fluid samples were collected from the patients. One was processed with routine culture and karyotype analysis. For another set, DNA was extracted and analyzed with array-based comparative genomic hybridization (array-CGH).</p><p><b>RESULTS</b>Karyotype analysis of peripheral blood samples for both probands was normal. Karyotype analysis of the amniotic fluid from family 1 has found no abnormality. However, analysis of amniotic fluid samples from the second family showed del(7)(q21q22.1). By array-CGH analysis, both blood and amniotic fluid samples from the first family showed a 662.3 kb dup(10q24.31q24.32). Array-CGH analysis of the blood sample from the second family was normal, whilst analysis of amniotic fluid sample revealed a 19.97 Mb del(7q11.23q21.3).</p><p><b>CONCLUSION</b>Array-CGH features high resolution, high accuracy and rapid diagnosis for unbalanced chromosomal aberration. The dup(10q24.31q24.32) and 19.97 Mb del(7q11.23q21.3) have been the cause of SHFM in the two families. Genetic counseling and prenatal diagnosis have been provided for both families in order to prevent this birth defect.</p>

Genetic analysis for a family with Cockayne syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations among three sisters from a Chinese family suspected with Cockayne syndrome for growth and psychomotor retardation, and to offer genetic counseling and prenatal diagnosis for the family.</p><p><b>METHODS</b>G-banded karyotyping, microarray comparative genomic hybridization (CM-CGH), whole genome exon high-throughput sequencing and Sanger sequencing were employed to identify potential genetic variations for the three patients and their parents.</p><p><b>RESULTS</b>Whole exome sequencing has identified two novel missense mutations, i.e., c.1595A>G (p.Asp532Gly) and c.1607T>G (p.Leu536Trp), in exon 7 of excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6) gene. Sanger sequencing confirmed that all of the three sisters have inherited one of the mutations (c.1607T>G) from their father and another (c.1595A>G) from their mother.</p><p><b>CONCLUSION</b>Three sisters have all been identified as double heterozygote for mutations c.1607T>G and c.1595A>G and were diagnosed with Cockayne syndrome.</p>

Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus / 中华男科学杂志

<p><b>OBJECTIVE</b>To evaluate idic(Yp) in genetic diagnosis by examining 1 infertile man and 1 prenatal fetus using cytogenetic and molecular techniques.</p><p><b>METHODS</b>Following conventional chromosome preparation, we performed G- and C-banding karyo. typing and fluorescence in situ hybridization (FISH). Then we extracted genomic DNA using standard procedures and analyzed it by array-CGH and multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>Both cases were diagnosed as 45, X/46, X, idic (Yp11.31) mosaicism. The man showed 2 intact copies of Yp11.31-q12 (chrY:2, 710, 250-57, 428, 567, SRY, ZFY, UTY and AZF), and the prenatal fetus exhibited similar findings except a paternal deletion in the AZFc region.</p><p><b>CONCLUSION</b>idic(Y) (p11.31) causes short stature and male infertility. Array-CGH and MLPA can improve the accuracy of the diagnosis of 45, X/46, X, idic (Y) mosaicism, which may contribute to the studies of the phenotype-genotype correlation and clinical genetic counseling.</p>

One case of 2q37 deletion syndrome: clinical and genetic diagnosis / 中华儿科杂志

<p><b>OBJECTIVE</b>To diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome.</p><p><b>METHOD</b>Following conventional chromosome preparation, G banded karyotyping was performed.Genomic DNA was extracted using standard procedures, which were then analyzed by array-CGH and MLPA.</p><p><b>RESULT</b>The patient presented with a typical face, special fist posture and congenital heart disease in 2q37 deletion syndrome. A 4.709 Mb deletion at 2q37.3 (chr2:237, 967, 852-242, 677, 269.NCBI36/hg18, including genes from COL6A3 toPDCD1) was detected by array-CGH. The results of MLPA and G banded karyotyping confirmed the existence of this deletion.</p><p><b>CONCLUSION</b>2q37.3 deletion was determined to be the cryptic cause of this case.2q37 deletion syndrome has some clinically recognizable characteristics. And array-CGH is a powerful technique for the accurate diagnosis and genotype-phenotype correlation study of this syndrome.</p>

Expression and clinical significance of vascular endothelial growth factor-C and nm23-H1 in stage II and III colorectal carcinomas / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To discuss the expression and clinical significance of VEGF-C and nm23-H1 in stage II and III colorectal carcinomas.</p><p><b>METHODS</b>SP immunohistochemical staining was employed to determine the expression of vascular endothelial growth factor-C (VEGF-C) and nm23-H1 in the tumor tissues of 110 cases of stage II and III colorectal carcinomas and in the adjacent mucosal tissues of 53 cases as control, and analyze their correlation with cliniopathological features and prognosis.</p><p><b>RESULTS</b>The positive expression of VEGF-C in the carcinoma tissues was 71.8%, significantly higher than that in the adjacent mucosal tissues (22.6%, P < 0.001). The positive expression of nm23-H1 in the carcinoma tissues was 57.3%, significantly lower than that in the adjacent mucosal tissues (90.6%, P < 0.001). The expression of VEGF-C was significantly correlated with lymph node metastasis (P < 0.05), and the nm23-H1 expression was significantly correlated with lymph node metastasis and pathological type (P < 0.05). The expression of VEGF-C and nm23-H1 did not show a significant correlation with age, gender, primary tumor site, tumor size and depth of invasion (P > 0.05). The VEGF-C expression was negatively related with nm23-H1 expression in colorectal carcinoma (r = -0.361, P < 0.001). The median overall survival (MOS) and median disease free survival (MDFS) of 110 patients with colorectal carcinoma were 55 and 48 months, respectively. The colorectal patients with different VEGF-C and nm23-H1 expression showed significant differences in the 5-year OS rate and 5-year DFS rate (P < 0.001). The patients with negative VEGF-C expression and positive nm23-H1 expression had a better prognosis.</p><p><b>CONCLUSIONS</b>The joint detection of VEGF-C and nm23-H1 expression is very promising in prediction of the prognosis of patients with stage II and III colorectal carcinoma. However, whether it can be used as a marker in prognosis judgment needs further investigation.</p>

Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.</p><p><b>METHODS</b>Genomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.</p><p><b>RESULTS</b>All of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.</p><p><b>CONCLUSION</b>Both array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.</p>