Incidence and genetic reproductive characteristics of AZFc microdeletion among patients with azoospermia or severe oligospermia / 中华医学遗传学杂志

OBJECTIVE@#To explore the incidence of azoospermia factor c (AZFc) microdeletion among patients with azoospermia or severe oligospermia, its association with sex hormone/chromosomal karyotype, and its effect on the outcome of pregnancy following intracytoplasmic sperm injection (ICSI) treatment.@*METHODS@#A total of 1 364 males with azoospermia or severe oligospermia who presented at the Affiliated Maternity and Child Health Care Hospital of Jiaxing College between 2013 and 2020 were subjected to AZF microdeletion and chromosome karyotyping analysis. The level of reproductive hormones in patients with AZFc deletions was compared with those of control groups A (with normal sperm indices) and B (azoospermia or severe oligospermia without AZFc microdeletion). The outcome of pregnancies for the AZFc-ICSI couples was compared with that of the control groups in regard to fertilization rate, superior embryo rate and clinical pregnancy rate.@*RESULTS@#A total of 51 patients were found to harbor AZFc microdeletion, which yielded a detection rate of 3.74%. Seven patients also had chromosomal aberrations. Compared with control group A, patients with AZFc deletion had higher levels of PRL, FSH and LH (P < 0.05), whilst compared with control group B, only the PRL and FSH were increased (P < 0.05). Twenty two AZFc couples underwent ICSI treatment, and no significant difference was found in the rate of superior embryos and clinical pregnancy between the AZFc-ICSI couples and the control group (P > 0.05).@*CONCLUSION@#The incidence of AZFc microdeletion was 3.74% among patients with azoospermia or severe oligospermia. AZFc microdeletion was associated with chromosomal aberrations and increased levels of PRL, FSH and LH, but did not affect the clinical pregnancy rate after ICSI treatment.

Interpretation of Chinese experts consensus on artificial intelligence assisted management for pulmonary nodule (2022 version) / 中国胸心血管外科临床杂志

@#The increasing number of pulmonary nodules being detected by computed tomography scans significantly increase the workload of the radiologists for scan interpretation. Limitations of traditional methods for differential diagnosis of pulmonary nodules have been increasingly prominent. Artificial intelligence (AI) has the potential to increase the efficiency of discrimination and invasiveness classification for pulmonary nodules and lead to effective nodule management. Chinese Experts Consensus on Artificial Intelligence Assisted Management for Pulmonary Nodule (2022 Version) has been officially released recently. This article closely follows the context, significance, core implications, and the impact of future AI-assisted management on the diagnosis and treatment of pulmonary nodules. It is hoped that through our joint efforts, we can promote the standardization of management for pulmonary nodules and strive to improve the long-term survival and postoperative life quality of patients with lung cancer.

Robotic and thoracoscopic segmentectomy in the treatment for non-small cell lung cancer: A propensity score-matched study / 中国胸心血管外科临床杂志

@#Objective    To investigate the safety and efficiency of robotic lung segmentectomy. Methods    The clinical data of 110 patients receiving robotic or thoracoscopic segmentectomy in our hospital between June 2015 and June 2019 were retrospectively analyzed. The patients were divided into a robotic group [n=50, 13 males and 37 females aged 53.0 (46.0, 60.0) years] and a thoracoscopic group [n=60, 21 males and 39 females aged 61.0 (53.0, 67.0) years]. A propensity score-matched analysis was adopted to compare the perioperative data between the two groups. Results    After the propensity score-matched analysis, 34 patients were included in each group. In comparison with the thoracoscopic group, patients in the robotic group had less blood loss [40.0 (20.0, 50.0) mL vs. 60.0 (40.0, 80.0) mL, P<0.001], more stations of lymph node dissection [7.0 (6.0, 8.0) vs. 4.0 (3.0, 6.0), P<0.001], larger number of lymph node dissection [15.0 (11.0, 21.0) vs. 10.0 (6.0, 14.0), P=0.002], and a higher total cost of hospitalization [97.0 (92.0, 103.0) thousand yuan vs. 54.0 (42.0, 59.0) thousand yuan, P<0.001]. Conclusion    In contrast with the thoracoscopic segmentectomy, robotic segmentectomy has a similar operative safety, but less blood loss and a thorough lymphadenectomy.

Application of non-invasive prenatal testing for the screening of fetal chromosomal abnormalities in 12 085 cases / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of non-invasive prenatal testing (NIPT) for the screening of fetal chromosomal abnormalities.@*METHODS@#For 12 085 pregnant women, the results of NIPT and invasive prenatal diagnosis were compared.@*RESULTS@#The test was successful in 12 067 cases and has detected 179 chromosomal abnormalities, with a positive rate of 1.48%, sensitivity of 98.39% and specificity of 99.02%. Invasive prenatal diagnosis was performed for 3 of 18 patients who had failed NIPT but has detected no karyotypic abnormality. Except for one case of twin Cesarean section which delivered a normal female fetus and a stillbirth of unknown sex, the remainder of the 18 cases all had a normal delivery. The positive rate of NIPT screening for the abnormal ultrasound group was significant higher than that other groups (P< 0.01). Among those with positive results of NIPT, 122 underwent invasive prenatal diagnosis, and 25 trisomy 21, 7 trisomy 18, 3 trisomy 13, 4 aneuploidies of other autosomes, 13 sex chromosomal aneuploidies and 9 microdeletion/microduplications were confirmed, which yielded a positive predictive rate of 86.21%, 50.00%, 23.08%, 21.05%, 46.43%, and 47.36%, respectively.@*CONCLUSION@#NIPT has high sensitivity, specificity and positive predictive value, and is an effective method for prenatal screening. In addition to chromosomes 21, 18 and 13, NIPT has certain predictive value for other autosomal aneuploidies, sex chromosomal aneuploidies, microdeletion/microduplications, and can provide a reference for karyotype analysis and chromosomal microarray verification.

Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.</p><p><b>METHODS</b>The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.</p><p><b>RESULTS</b>The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.</p><p><b>CONCLUSION</b>The karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.1::18q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.</p>

A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.</p><p><b>CONCLUSION</b>A case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.</p>

Longitudinal survey and analysis among Chengdu residents on cognition and acceptance of implant dentures / 华西口腔医学杂志

<p><b>OBJECTIVE</b>This study aims to survey the cognition and acceptance of implant dentures among Chengdu residents in 2005 and 2013 and to comparatively analyze the differences and influencing factors.</p><p><b>METHODS</b>A questionnaire was designed for this study. Its main content included basic demographics of respondents (gender, age, cultural level, and income level), cognition level of implant dentures (concept and main characteristics of implant dentures), main concern of respondents regarding implant dentures and medical institutions, and acceptance level of the price of implant dentures, among others. The sampling survey was carried out among Chengdu residents in 2005 and 2013 using the designed questionnaire. The results were then statistically analyzed.</p><p><b>RESULTS</b>Up to 908 valid questionnaires in 2005 and 905 valid questionnaires in 2013 were obtained. The level of cognition of implant dentures was higher in 2013 than in 2005, and the correlation between cognition and cultural level and that between cognition and income level were both positive. However, the correlation between cognition and age was negative. The success rate for implant dentures and medical treatment technology of medical institutions were the factors that the respondents were mainly concerned with. The main methods for disseminating information on implant dentures were the internet, television, newspapers, magazines, and introduction by friends.</p><p><b>CONCLUSION</b>With the development of the society's economy and the improvement of culture and income level of Chengdu residents, the cognition and acceptance level of implant dentures have gradualy increased. Meanwhile, health education and medical technology still need to be strengthened.</p>

The significance and measures of strengthening tooth carving skills in oral medicine education / 中华医学教育探索杂志

Since enrolling oral medical undergraduates, under the guiding ideology of “culti-vating applied medical personnel for grass roots”, Xi 'an Medical University has kept trying to find effective measures to strengthen tooth carving training. It has made full use of resources and advan-tages of oral professional technology, cleared the aim, significance, content and form of tooth carving training, paid attention to linking up tooth carving skill and oral clinical courses, then formed a set of distinctive tooth carving experimental teaching mode by strengthening teacher training, innovating pra-ctice teaching methods, making teaching models, carrying out opening experiment, designing com-prehensive experiment examination methods, and actively taking part in skill competitions, and so on.