Objective To investigate the correlation among mammographic features、pathology and molecu-lar biology markers of breast infitrating ductal carcinoma(IDC) tissues.Methods The mammographic features of 93 cases with IDC confirmed by surgery and histopathology were analyzed retrospectively.The mastectomy specimens of the IDC were stained with immunohistochemistry,and the expression of ER、PR、C-erbB-2 were measured.The rela-tionship between the immunohistochemical pathologic results and mammographic features was analyzed.Results A-mong the 93 cases of IDC,ER positive expression was positively correlated with the spiculate margin of breast cancer (P<0.05);C-erbB-2 positive expression was positively correlated(P<0.05).Moreover,ER and PR positive expres-sion showed a significant inverse correlation with the calcifying of breast cancer(P>0.05);ER and PR positive ex-pression was positively correlated with the transfer of lymph(P<0.05);there existed correlation between the positive expression of C-erbB-2 and lymphatic metastasis and pathohistology grade(P<0.05).Conclusion There was a pos-itive correlation among IDC mammography、pathology and the abnormal value of ER、PR and C-erbB-2.The X-ray mammography could reflect the diagnosis value of ER、PR and C-erbB-2 roughly,and thadpractical value in determi-ning prognoses and endocrinotherapy.

OBJECTIVETo 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.

METHODSTwo 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).

RESULTSKaryotype 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).

CONCLUSIONArray-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.

Adult ; Asian Continental Ancestry Group ; genetics ; China ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Foot Deformities, Congenital ; diagnosis ; genetics ; Hand Deformities, Congenital ; diagnosis ; genetics ; Humans ; Infant, Newborn ; Male ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo 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.

METHODSGenomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.

RESULTSAll 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.

CONCLUSIONBoth array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.

Adult ; Child ; Chromosome Deletion ; Chromosome Duplication ; Comparative Genomic Hybridization ; Humans ; Infant ; Karyotyping ; Male ; Multiplex Polymerase Chain Reaction ; Phenotype ; Translocation, Genetic

OBJECTIVETo analyze the chromosome aberration in a full-term male neonate with low birth weight, and to explore the possible causes for growth retardation in intrauterine development for the neonate.

METHODSGenomic DNA was extracted from peripheral leukocytes of the neonate. Detection of genomic DNA copy number gain and loss was performed using microarray comparative genomic hybridization. Chromosome karyotype was obtained from cultured lymphocytes for the neonate and his parents in order to identify the origin of chromosome aberration.

RESULTSGain of 10q25.2-->qter (22 Mb) was observed in the full-term neonate with low birth weight. In addition, one chromosomal region, 15q26.2-->qter (5 Mb) was lost. The karyotype of the neonate was 46, XY, -15, +der(15), t(10;15)(q25;q26)pat.

CONCLUSIONThe full-term neonate with low birth weight had a partial trisomy of 10q25.2-->qter with a partial monosomy of 15q26.2-->qter, both of them may contribute to the growth retardation in intrauterine development for the neonate case.

Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 15 ; genetics ; Comparative Genomic Hybridization ; Female ; Gene Dosage ; Genome, Human ; genetics ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; Pregnancy ; Quality Control ; Term Birth ; genetics ; Trisomy

OBJECTIVETo study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.

METHODSPCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.

RESULTSThe DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species.

CONCLUSIONThe E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome.

Adult ; Amino Acid Sequence ; Androgen-Insensitivity Syndrome ; genetics ; Animals ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Receptors, Androgen ; chemistry ; genetics ; Sequence Alignment ; Young Adult

OBJECTIVETo 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.

METHODSThe combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).

RESULTSNineteen (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.

CONCLUSIONCombined 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.

Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Testing ; methods ; Heart Defects, Congenital ; diagnosis ; genetics ; Humans ; Karyotyping ; methods ; Multiplex Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity

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.

Objective:To evaluate the accuracy and applicability of detection tube method for quantitative detection of hydrogen sulfide in workplace air.Methods:In September 2021, the lower limit of quantification, accuracy, precision, environmental factors, interfering gases and other performance indicators of the method for determining hydrogen sulfide in the air of workplace were verified by the detection tube, and the results were compared with those of GB 11742-89 "Standard method for hygienic examination of hydrogen sulfide in air of residential areas-methylene blue spectrophotometric method" to evaluate the application effect of the detection tube method for quantitative detection of hydrogen sulfide in workplace air.Results:There was no significant difference in the results of 2.83 mg/m 3, 4.25 mg/m 3 and 17.00 mg/m 3 hydrogen sulfide concentration between the two methods ( P>0.05) , but there was significant difference in the results of 8.50 mg/m 3 concentration ( P<0.05) . The lower limit of quantification of hydrogen sulfide in workplace air was 2.83 mg/m 3, the accuracy was 96.0%-111.0%, and the precision was 0.70%-6.64%. Under the condition of 4 ℃, the measured results decreased by 3.39%-13.10%. When the humidity was 50%-80%, the relative error of the average measured value was -1.67%-4.44%. Interference gases that may exist in the workplace (including carbon dioxide, carbon monoxide, mercaptans, nitrogen oxides, sulfur dioxide, etc.) did not interfere with the results of the test tube. Conclusion:The accuracy and precision of the detection tube method meet the detection requirements. The method is simple, rapid and easy to be popularized, and can be used for the rapid detection of hydrogen sulfide gas concentration in the workplace.

Objective:To evaluate the accuracy and applicability of detection tube method for quantitative detection of hydrogen sulfide in workplace air.Methods:In September 2021, the lower limit of quantification, accuracy, precision, environmental factors, interfering gases and other performance indicators of the method for determining hydrogen sulfide in the air of workplace were verified by the detection tube, and the results were compared with those of GB 11742-89 "Standard method for hygienic examination of hydrogen sulfide in air of residential areas-methylene blue spectrophotometric method" to evaluate the application effect of the detection tube method for quantitative detection of hydrogen sulfide in workplace air.Results:There was no significant difference in the results of 2.83 mg/m 3, 4.25 mg/m 3 and 17.00 mg/m 3 hydrogen sulfide concentration between the two methods ( P>0.05) , but there was significant difference in the results of 8.50 mg/m 3 concentration ( P<0.05) . The lower limit of quantification of hydrogen sulfide in workplace air was 2.83 mg/m 3, the accuracy was 96.0%-111.0%, and the precision was 0.70%-6.64%. Under the condition of 4 ℃, the measured results decreased by 3.39%-13.10%. When the humidity was 50%-80%, the relative error of the average measured value was -1.67%-4.44%. Interference gases that may exist in the workplace (including carbon dioxide, carbon monoxide, mercaptans, nitrogen oxides, sulfur dioxide, etc.) did not interfere with the results of the test tube. Conclusion:The accuracy and precision of the detection tube method meet the detection requirements. The method is simple, rapid and easy to be popularized, and can be used for the rapid detection of hydrogen sulfide gas concentration in the workplace.

Background Volatile organic compounds (VOCs) in exhaled breath are closely associated with respiratory diseases and are linked to various metabolic reactions in the human body. A quantitative analytical method can provide technical support for studying VOCs related to various diseases. Objective To establish a thermal desorption-gas chromatography-mass spectrometry (TD-GC-MS) method for the determination of 27 VOCs in exhaled breath. Methods VOCs in exhaled breath were collected using a Bio-VOC sampler and enriched with Tenax TA thermal desorption tubes before TD-GC-MS analysis. Standards were collected using thermal desorption tubes and optimized for thermal desorption conditions as well as chromatographic and mass spectrometric conditions: The separation of the 27 VOCs was achieved by an optimized temperature program, the improvement of sensitivity by optimizing quantitative ions, and the increase of VOCs desorption efficiency by optimizing thermal desorption time and temperature. Limit of detection, limit of quantification, accuracy, precision, and stability of the proposed method were investigated by spiking with a blank gas bag, and exhaled breath samples from 20 healthy individuals were collected for an application study of the proposed method. Results The thermal desorption temperature was 280 ℃, and desorption time was 6 min. A VF-624ms chromatographic column was selected for the separation of target substances. The initial temperature of heating program was 35 ℃, maintained for 1 min, and then increased to 100 ℃ at a heating rate of 3 ℃·min⁻¹ for 1 min, followed by increasing to 210 ℃ at a heating rate of 28 ℃·min⁻¹ for 5 min. A quantitative analysis was conducted with a single ion monitoring (SIM) mode. Under these conditions, the 27 VOCs showed good linear relationships in their respective concentration ranges and the correlation coefficients were higher than 0.9990. The limits of detection of the method were in the range of 0.01-0.13 nmol·mol⁻¹, the limits of quantification were in the range of 0.02-0.44 nmol·mol⁻¹, and the spiked recoveries were in the range of 80.1%-120.5%, with intra-batch and inter-batch precision ≤ 18.8% and 17.9% respectively. All substances can be stored at room temperature (23-28 °C) for 7 d and at 4 °C for 14 d. The proposed method was applied to exhaled breath samples from 20 subjects with detection rates≥ 80% (except for trans-2-pentene and decane) and a concentration range of 0.00-465.50 nmol·mol⁻¹. Conclusion The established TD-GC-MS method for quantification of VOCs in exhaled breath is characterized by high sensitivity and good accuracy, and is suitable for quantitative determination of VOCs in exhaled breath, which can provide technical support for the study of exhaled breath VOCs.