OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

Objective: To explore the value of T2WI and enhanced T1WI magnetic resonance imaging models in differentiating inverted papilloma and polyp of nasal cavity and paranasal sinus． Methods: 54 cases of inverted papilloma (NIP) and 51 cases of polyp ( NP) with complete T2WI and enhanced T1WI images confirmed by pathology were collected．ITK snap was used to outline all levels of the lesion．Pyromics was used to extract image omics features．Firstly，the mRMR) was used for feature extraction，and then rfe-SVM was used to remove the feature of minimum score and establish a prediction model．The sensitivity and specificity of ROC curve were used to evaluate the performance of the model，and were verified in the validation set. Results: A total of 1 133 image omics features were extracted，and 30 features were retained after mrmr dimensionality reduction for the establishment of prediction models．The AUC value of T1WI enhanced prediction model was : training set 0. 98，validation set 0. 95，the sensitivity and specificity of training set were 89. 7% and 100% respectively，and the sensitivity and specificity of validation set were 93. 8% and 93. 3% respectively．The AUC value of T2WI prediction model was : training set 0. 95，validation set 0. 91，the sensitivity and specificity of training set were 82. 1% and 95. 6% respectively，and the sensitivity and specificity of validation set were 93. 8% and 84. 2% respectively． Conclusion MRI based on T1WI enhancement prediction model and T2WI prediction model have certain value in differentiating inverted papilloma and polyp of nasal cavity and paranasal sinus.

The online version of the original article can be found at https://doi.org/10.1631/jzus.B2000190 Erratum to: J Zhejiang Univ-Sci B (Biomed & Biotechnol) 2020 21(10):779-795 https://doi.org/10.1631/jzus.B2000190.

Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.

Metabolic-associated fatty liver disease (MAFLD), which is previously known as non-alcoholic fatty liver disease (NAFLD), represents a major health concern worldwide with limited therapy. Here, we provide evidence that ferroptosis, a novel form of regulated cell death characterized by iron-driven lipid peroxidation, was comprehensively activated in liver tissues from MAFLD patients. The canonical-GPX4 (cGPX4), which is the most important negative controller of ferroptosis, is downregulated at protein but not mRNA level. Interestingly, a non-canonical GPX4 transcript-variant is induced (inducible-GPX4, iGPX4) in MAFLD condition. The high fat-fructose/sucrose diet (HFFD) and methionine/choline-deficient diet (MCD)-induced MAFLD pathologies, including hepatocellular ballooning, steatohepatitis and fibrosis, were attenuated and aggravated, respectively, in cGPX4-and iGPX4-knockin mice. cGPX4 and iGPX4 isoforms also displayed opposing effects on oxidative stress and ferroptosis in hepatocytes. Knockdown of iGPX4 by siRNA alleviated lipid stress, ferroptosis and cell injury. Mechanistically, the triggered iGPX4 interacts with cGPX4 to facilitate the transformation of cGPX4 from enzymatic-active monomer to enzymatic-inactive oligomers upon lipid stress, and thus promotes ferroptosis. Co-immunoprecipitation and nano LC-MS/MS analyses confirmed the interaction between iGPX4 and cGPX4. Our results reveal a detrimental role of non-canonical GPX4 isoform in ferroptosis, and indicate selectively targeting iGPX4 may be a promising therapeutic strategy for MAFLD.

Objective:To explore the effect of emotional nursing in improving the negative emotions and compliance of patients with intracranial tumors.Methods:From March 2014 to March 2020, 90 patients with intracranial tumors admitted to Zhoushan Hospital in Zhejiang Province were selected as the research object. A total of 45 patients with intracranial tumors from March 2014 to February 2017 were set as the control group, and 45 patients with intracranial tumors from March 2017 to March 2020 were set as the observation group. The control group carried out routine nursing, and the observation group conducted emotional nursing on this basis. The negative emotions assessed by Self-rating Depression Scale (SDS) and Self-rating Anxiety Scale (SAS) , compliance and comfort scores of the two groups of patients were compared.Results:In the observation group, the SDS and SAS scores of patients were lower than those in the control group, the comfort scores were higher than those in the control group, and the compliance was higher than that of the control group, and the differences were statistically significant ( P<0.05) . Conclusions:Emotional nursing can effectively improve the negative emotions and compliance of patients with intracranial tumors, and increase their comfort during hospitalization.

OBJECTIVE: To explore the value of BACs-on-Beads (BoBs) for the practice of prenatal diagnosis. METHODS: The results of chromosomal karyotyping and BoBs of 1773 prenatal samples were compared. Microdeletions and microduplications detected by BoBs were subjected to chromosome microarray analysis (CMA) with informed consent from patients. RESULTS: BoBs has detected 46 cases of common aneuploidies involving chromosomes 13, 18, and 21, and 16 cases involving X and Y chromosomes. For 4 fetuses with normal results by BoBs, karyotyping analysis of amniotic fluid sample suggested low percentage mosaicisms (< 20%). BoBs has detected none of the 9 common microdeletions, but 14 male fetuses with Xp22 microdeletions and 5 with other microdeletions/microduplications. In 10 cases, the couples had chosen CMA verification, and the results were all consistent. CONCLUSION As a rapid diagnostic technique, BoBs has a high accuracy for common aneuploidies, and is capable of discovering certain chromosome microdeletions and microduplications. The difficulty lies in the inability to detect low proportion mosaicisms and the consultation following detection for male fetuses carrying Xp22 microdeletions.

OBJECTIVE: To analyze the prenatal diagnosis procedure for a 45,X male fetus. METHODS: A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-Beads (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization. RESULTS: Combined analyses revealed that the whole of Yp has translocated to 21p, which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+). CONCLUSION BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.

OBJECTIVETo determine the origin of two prenatally detected small supernumerary marker chromosomes (sSMCs).

METHODSThe sSMCs were analyzed with combined G-banding, C-banding, fluorescence in situ hybridization (FISH), and single nucleotide polymorphisms array (SNP-array) techniques.

RESULTSIn case 1, G-banding analysis has identified a 47,XY,+mar karyotype. Affymetrix CytoScan 750K Array scan has suggested arr 15q11.2q12(22 770 421-26 604 587)?, while FISH analysis suggested 47,XN,+mar.ish i(15)(q12)(D15Z1+,SNRPN++,PML-). In case 2, G-banding analysis has suggested 46,X,+mar/46,XY, FISH analysis showed two SRY hybridization signals, indicating 46,X,i(Y)(p10)/46,XY.

CONCLUSIONMultiple techniques needed be applied for verification of the origin of sSMCs identified in prenatal diagnosis.

Adult ; Chromosome Aberrations ; Chromosome Banding ; Female ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Multiplex Polymerase Chain Reaction ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis

Objective To investigate the effects of epinephrine in sepsis-associated lung injury in rats. Methods Thirty SD rats were randomly divided into three groups(n =10 per group):control group received intravenous 0. 9% saline 2. 4 ml/( kg·h ); LPS group received intravenous LPS ( 6 mg/kg ); epi-nephrine treatment group received an infusion of epinephrine 0. 6μg/( kg·min) after LPS intravenous injec-tion . Blood samples were taken at 2 h and 6 h after LPS injection and the levels of serum tumor necrosis factor ( TNF)-α,interleukin( IL)-6 and IL-10 were detected. The rats were sacrificed at 6 h. The lung tissues and bronchoalveolar lavage fluid( BALF) were collected. Pathological changes of the lung tissues were observed under light microscope. Water content of lung,expression of TNF-α,IL-6 and IL-10 in BALF and in serum were detected. Results (1) The water content of lung in LPS group significantly increased compared with that in control group(85. 24% ± 5. 87% vs. 70. 19% ± 5. 87%) and epinephrine group(78. 00% ± 6. 41%) (P<0. 05). (2)Pathological examination showed that LPS could cause pulmonary capillary hyperemia,ede-ma,inflammatory cells infiltration. Atelectasis and alveolar edema were found in small number of lung tissue. Compared with LPS group, epinephrine ameliorated the lung pathological injury. ( 3 ) Compared with LPS group,serum levels of TNF-α and IL-6 significantly decreased ( P <0. 05 ) , whereas IL-10 increased ( P <0. 05) in epinephrine group. (4)Compared with LPS group,BALF levels of TNF-α[(78 ± 9)ng/L vs. (102 ±16)ng/L]andIL-6[(268±42)ng/Lvs.(347±50)ng/L]significantlydepressed(P<0.05),whereas BALFlevelsofIL-10[(210±23)ng/Lvs.(146±34) ng/L]elevated(P <0.05) inepinephrinegroup. Conclusion Epinephrine could reduce the acute lung injury caused by LPS. Its protective effect may be re-lated to decreasing the levels of TNF-α and IL-6,elevating IL-10 level.