Fetal Persistent Left Superior Vena Cava Associated with Abnormal Karyotypes and Copy Number Variations / 中山大学学报(医学科学版)

@#【Objective】To investigate the clinical value of chromosomal microarray analysis（CMA）for fetuses with persistent left superior vena cava（PLSVC）.【Methods】Fetuses that were diagnosed with PLSVC during ultrasound examination and underwent invasive prenatal testing（on which karyotyping and CMA were both performed）from January 2014 to December 2016 at the First Affiliated Hospital of Sun Yat-sen University were reviewed. According to the combination of other ultrasound abnormalities，the cases were divided into isolated group and complicated group.【Results】Karyotype analysis identified chromosomal aberrations in 18.5%（15/81）of the fetuses，while CMA detected pathogenic copy number variations（CNV）in 23.5%（19/81）of the fetuses. There was no significant difference in the detection rate of chromosomal abnormalities between the Karyotype analysis and CMA（P = 0.44）. CMA achieved an incremental yield of 6.1% （4/66）among PLSVC fetuses with normal karyotypes，and only in the complicated cases. There were 12 cases（14.8% ，12/81）in isolated group and 69 cases（85.2% ，69/81）in complicated group. The frequency of genetic anomalies in the complicated group was not significantly higher than that in the isolated group（26.1%，18/69 vs. 8.3%，1/12，P = 0.277）. The incidences of atrioventricular septal defect，facial abnormalities，and multiple soft markers were significantly higher among fetuses with abnormal genetic test results（P= 0.030，P= 0.012，P= 0.014）.【Conclusion】CMA is a valuable tool for identifying additional unbalanced submicroscopic chromosomal abnormalities in fetuses with PLSVC ，especially when PLSVC is accompanied by other ultrasound malformations.

Effect of Taohong Qinlian Decoction on HMGB1 in Septic Rat Cardiac Muscle / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To observe the levels of high mobility group box-1 protein (HMGB1), tumor necrosis factor-alpha (TNF-α), IL-6, troponin I (Tn I) release in septic rats, and to explore themechanism of Taohong Qinlian Decoction (TQD) in the treatment of septic myocardial injury.</p><p><b>METHODS</b>A total of 48 healthy male Wistar rats of clean grade were randomly divided into the sham-operation group (Sham), the sepsis model group (CLP), and the TQD treatment group (ZY), 16 in each group. Concen-trations of TNF-α, IL-6, Tn I, and HMGB1 expression were detected in each group at 24 and 48 h after operation. Pathological changes of cardiac muscle were observed under light microscope.</p><p><b>RESULTS</b>Concentrations of TNF-α, IL-6, Tn I and HMGB1 at 24 and 48 h after operation were significantly higher in the CLP group than in the Sham group (P < 0.01). Concentrations of TNF-α, IL-6, Tn I, and HMGB1 at 24 and 48 h after operation were significantly lower in the ZY group than in the CLP group (P < 0.05). Myocardial injury occurred in the CLP and the ZY group under light microscope. And this injury was more severe in the CLP group than in the ZY group.</p><p><b>CONCLUSION</b>TQL could reduce the level of sepsis-related inflammatory cytokines and protect myocardium in septic rats.</p>

Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome (ATR-X).</p><p><b>METHODS</b>Based on clinical symptoms and inheritance pattern, linkage analysis of X chromosome short tandem repeats (X-STR) loci was carried out to locate the candidate gene. Subsequently, sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR). Potential mutations were detected by direct DNA sequencing. All patients were also analyzed for the trait of thalassemia.</p><p><b>RESULTS</b>Linkage analysis indicated the candidate gene to be ATRX. Subsequently, a homozygous missense mutation c.736C>T (p.R246C) was found in exon 9 of ATRX in all of the 3 patients. And a heterozygous mutation c.736C>T (p.R246C) was also identified in the patient's mother and grandmother. Similar mutations were not detected in other members of the family. Alpha thalassemia was detected in the proband and another patient, whose genotypes were determined as -α(3.7)/αα and --(sea)/αα, respectively.</p><p><b>CONCLUSION</b>Missense mutation of c.736C>T in ATRX gene is a mutation hotspot, and p.R246C may disturb the function of ATRX-DNMT3-DNMT3L domain (ADD), which may be responsible for the disease in this family.</p>

Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and conventional karyotyping on prenatally detected marker chromosomes and complex chromosomal aberrations.</p><p><b>METHODS</b>Five marker chromosomes and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY was performed to verify the composition of marker chromosomes. FISH was used to confirm the diagnosis when necessary. In certain cases, C or N banding technique was employed to verify the composition of chromosomes. Results of ultrasonography and pregnancy outcome were reviewed.</p><p><b>RESULTS</b>Among the 5 marker chromosomes, 2 were large and 3 were medium in size, 4 were de novo and one was inherited from the father. By SKY analysis, 2 marker chromosomes have originated from non-acrocentric chromosomes (4 and 9), whilst the other two have originated from acrocentric chromosomes (21 and 22). The remainder was derived from X chromosome. The SKY results were confirmed by FISH in 3 cases. Four cases have chosen to terminate the pregnancy after genetic counseling. A fetus with inherited paternal marker chromosome was delivered at term, and showed normal development during the first year of life. As for the other 2 cases with complex chromosome aberrations, by SKY examination, one had duplication in chromosome 8 and the other had chromosome rearrangements derived from translocation between chromosomes 2 and 6. In the latter case the fetus was delivered at term but showed developmental retardation at 6 months.</p><p><b>CONCLUSION</b>SKY in combination with FISH can facilitate identification of the origins of marker chromosomes as well as complex chromosomal aberrations. With combined information from ultrasonography, SKY and FISH, effective counseling may be offered to the patients.</p>

Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.</p><p><b>METHODS</b>Following conventional chromosome preparation, G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.</p><p><b>RESULTS</b>G-banded karyotype was 46, XX, ?(22q11.3), SKY karyotype analysis was 46, XX, der (4)t(4;6) and found no abnormalities on chromosome 22, staining signal was not found with any abnormalities on chromosome 6. Two-color FISH indicated a chromosomal translocation segment of 22q13.3 to one end of the short arm of chromosome 4. Subtelomeric FISH probe showed the end of the long arm of chromosome 22 and the end of the short arm of chromosome 4 reciprocal translocation. High resolution G-banding and FISH result indicated 46, XX, t(4;22)(p15.3;q13.2).</p><p><b>CONCLUSION</b>The testing of small chromosomal translocation should be combined with clinical information and integrated use of molecular cytogenetic techniques to improve the accuracy of diagnosis of chromosomal diseases.</p>

Health safety of main water pipe materials supplied in China market / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To assess the health safety of copper, steel and plastic water pipes by field water quality investigations.</p><p><b>METHODS</b>Four consumers were randomly selected for each type of water pipes. Two consumers of every type of the water pipes had used the water pipes for more than 1 year and the other 2 consumers had used the water pipes for less than 3 months. The terminal volume of tap water in copper and steel water pipes should be not less than 0.1 liter, whereas that in plastic water pipes should be not less than 1 liter.</p><p><b>RESULTS</b>The mean values of the experimental results in the second field water quality investigation of the copper and steel water pipes met the Sanitary Standards for Drinking Water Quality. The items of water sample of the plastic water pipes met the requirements of the Sanitary Standards for Drinking Water Quality.</p><p><b>CONCLUSION</b>Copper, steel, and plastic pipes can be used as drinking water pipes.</p>