Meta-analysis of Palliative Care on End-stage Quality of Life in Cancer Patients.

Objective: This study aimed to investigate the impact of palliative care on the quality of life, depressive state, and physical and psychological symptoms of patients with end-stage cancer. Methods: A systematic literature search of PubMed, Embase, and Scopus databases was conducted for randomized controlled trials (RCTs) published from May 2000 to June 2023, focusing on the impact of palliative care on end-stage cancer patients. The search utilized terms such as "palliative care," "cancer/tumor/malignancy," "terminal/end-stage/advanced," to identify studies meeting our inclusion criteria. Selected RCTs were evaluated for quality, and relevant data were extracted for meta-analysis. Results: Meta-analysis of 16 RCTs revealed that palliative care significantly improved depressive states [OR=-0.88, 95%CI (-1.55, -0.20), P = .01] and alleviated physical and psychological symptoms [OR=-2.38, 95%CI (-3.95, -0.81), P = .003] in end-stage cancer patients compared to conventional oncology care. However, the improvement in overall quality of life was not statistically significant (P > .05). Conclusion: Palliative care significantly enhances the mental and physical well-being of end-stage cancer patients by reducing depressive states and symptom burden, although its impact on overall quality of life requires further exploration.

[Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].

OBJECTIVE: To retrospectively analyze the clinical phenotype and pathogenic variants in patients with Progressive myoclonus epilepsy (PME). METHODS: Clinical data and results of genetic testing for 11 patients diagnosed with PME at the Department of Neurology, the First Affiliated Hospital of Zhejiang University School of Medicine from June 2017 to December 2022 were collected and analyzed. RESULTS: All of the patients, including 4 males and 7 females, had predominant action myoclonus. Three patients had myoclonus as the initial manifestation, whilst eight were diagnosed through genetic testing, including three cases with NEU1 gene variants, two with EPM2A gene variants (1 was novel), one with MT-TK gene variant, one with ATN1 gene variant, and one with CSTB gene variant. No pathogenic variant was identified in the remaining three cases. Among the eight patients with a genetic diagnosis, three were diagnosed with sialidosis, two with Lafora disease, one with Dentatorubral-pallidoluysian atrophy (DRPLA), one with Unverricht-Lundborg disease (ULD), and one with Myoclonic epilepsy with ragging red fibers (MERRF). CONCLUSION: Compared with pediatric patients, adult patients with PME represent a distinct subtype with slower progression and milder cognitive impairment.

Dynamic Reconstruction of Two-Dimensional Defective Bi Nanosheets for Efficient Electrocatalytic Urea Synthesis.

Catalyst surface dynamics drive the generation of active species for electrocatalytic reactions. Yet, the understanding of dominant site formation and reaction mechanisms is limited. In this study, we thoroughly investigate the dynamic reconstruction of two-dimensional defective Bi nanosheets from exfoliated Bi2Se3 nanosheets under electrochemical CO2 and nitrate (NO3 -) reduction conditions. The ultrathin Bi2Se3 nanosheets obtained by NaBH4-assisted cryo-mediated liquid-phase exfoliation are more easily reduced and reconstructed to Bi nanosheets with high-density grain boundaries (GBs; GB-rich Bi). The reconstructed GB-rich Bi catalyst affords a remarkable yield rate of 4.6 mmol h-1 mgcat. -1 and Faradaic efficiency of 32 % for urea production at -0.40 V vs. RHE. Notably, this yield rate is 2 and 8.2 times higher than those of the low-GB Bi and bulk Bi catalysts, respectively. Theoretical analysis demonstrates that the GB sites significantly reduce the *CO and *NH2 intermediate formation energy and C-N coupling energy barrier, enabling selective urea electrosynthesis on the GB-rich Bi catalyst. This work will trigger further research into the structure-activity interplay in dynamic processes using in situ techniques.

Accelerating Industrial-Level NO3 - Electroreduction to Ammonia on Cu Grain Boundary Sites via Heteroatom Doping Strategy.

Although the electrocatalytic nitrate reduction reaction (NO3 - RR) is an attractive NH3 synthesis route, it suffers from low yield due to the lack of efficient catalysts. Here, this work reports a novel grain boundary (GB)-rich Sn-Cu catalyst, derived from in situ electroreduction of Sn-doped CuO nanoflower, for effectively electrochemical converting NO3 - to NH3 . The optimized Sn1% -Cu electrode achieves a high NH3 yield rate of 1.98 mmol h-1 cm-2 with an industrial-level current density of -425 mA cm-2 at -0.55 V versus a reversible hydrogen electrode (RHE) and a maximum Faradaic efficiency of 98.2% at -0.51 V versus RHE, outperforming the pure Cu electrode. In situ Raman and attenuated total reflection Fourier transform infrared spectroscopies reveal the reaction pathway of NO3 - RR to NH3 by monitoring the adsorption property of reaction intermediates. Density functional theory calculations clarify that the high-density GB active sites and the competitive hydrogen evolution reaction (HER) suppression induced by Sn doping synergistically promote highly active and selective NH3 synthesis from NO3 - RR. This work paves an avenue for efficient NH3 synthesis over Cu catalyst by in situ reconstruction of GB sites with heteroatom doping.

Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.

BACKGROUND: Variants of the NUS1 gene have been associated with an extensive spectrum of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson's disease, dystonia, and congenital disorder of glycosylation. It is rarely reported in progressive myoclonus epilepsy (PME). METHODS AND RESULTS: Herein, we report the case of PME caused by a novel de novo NUS1 missense variant (c.302T>A, p.Met101Lys). In addition, we reviewed the current literature of NUS1-associated PME. At present, five patients with NUS1 variants and PME have been reported in the literature. Due to limited cases reported, the relationship between NUS1 variants and PME is not well-established. CONCLUSIONS: Our case provides further evidence of the role of NUS1 variants in PME. These findings expand the clinical phenotypes of NUS1 variants, which should be included in the PME genetic screening panel.

[Analysis of ARID1B gene variant in a patient with mental retardation and ejaculatory dysfunction].

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a patient with mental retardation and ejaculatory dysfunction. METHODS: A patient with mental retardation and ejaculatory dysfunction who was admitted to the First Affiliated Hospital of Air Force Military Medical University on November 18, 2021 was selected as the study subject. Clinical data of the patient were collected. Peripheral venous blood samples were collected from the patient and his parents. Whole exome sequencing (WES) was carried out for the patient, and the candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The patient, a 26-year-old male, had manifested atypical mental retardation and ejaculatory dysfunction. WES revealed that he has harbored a heterozygous variant of the ARID1B gene, namely c.5776C>T (p.Arg1926X). Sanger sequencing verified that neither of his parents has carried the same variant. The variant has been recorded in the 1000 Genomes, ExAC, gnomAD and ClinVar databases. A search of the dbSNP database suggested that the variant has a population frequency of 0.000 4%. The variant was predicted as deleterious by online software including Mutation Taster, CADD, and MutPred. Analysis with Cluster Omega online software suggested that the amino acid encoded by the variant site was highly conserved among various species. Analysis with PyMOL software suggested that the variant may affect the function of the encoded protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was predicted to be pathogenic. CONCLUSION: The c.5776C>T (p.Arg1926X) variant of the ARID1B gene probably underlay the mental retardation and ejaculatory dysfunction in this patient. Above finding has broadened the spectrum of the ARID1B gene variants and provided reference for the diagnosis and treatment of the patient.

Automatic segmentation of the gross target volume in radiotherapy for lung cancer using transresSEUnet 2.5D Network.

OBJECTIVE: This paper intends to propose a method of using TransResSEUnet2.5D network for accurate automatic segmentation of the Gross Target Volume (GTV) in Radiotherapy for lung cancer. METHODS: A total of 11,370 computed tomograms (CT), deriving from 137 cases, of lung cancer patients under radiotherapy developed by radiotherapists were used as the training set; 1642 CT images in 20 cases were used as the validation set, and 1685 CT images in 20 cases were used as the test set. The proposed network was tuned and trained to obtain the best segmentation model and its performance was measured by the Dice Similarity Coefficient (DSC) and with 95% Hausdorff distance (HD95). Lastly, as to demonstrate the accuracy of the automatic segmentation of the network proposed in this study, all possible mirrors of the input images were put into Unet2D, Unet2.5D, Unet3D, ResSEUnet3D, ResSEUnet2.5D, and TransResUnet2.5D, and their respective segmentation performances were compared and assessed. RESULTS: The segmentation results of the test set showed that TransResSEUnet2.5D performed the best in the DSC (84.08 ± 0.04) %, HD95 (8.11 ± 3.43) mm and time (6.50 ± 1.31) s metrics compared to the other three networks. CONCLUSIONS: The TransResSEUnet 2.5D proposed in this study can automatically segment the GTV of radiotherapy for lung cancer patients with more accuracy.

Growth differentiation factor-15 promotes immune escape of ovarian cancer via targeting CD44 in dendritic cells.

Immune escape is the main cause of the low response rate to immunotherapy for cancer, including ovarian cancer. Growth differentiation factor-15 (GDF-15) inhibits immune cell function. However, only few reports described the mechanism. Therefore, the aim of this study was to investigate the mechanism of immune escape regulated by GDF-15 in ovarian cancer. Ovarian cancer patients and healthy women were enrolled in this study. Immunohistochemistry and ELISA were performed to measure GDF-15 expression. Immunoprecipitation combined with mass spectrometry, surface plasmon resonance, and co-immunoprecipitation assay were used to evaluate the interaction between GDF-15 and the surface molecules of DCs. Immunofluorescence analysis, flow cytometry and transwell assay were used to evaluate additional effects of GDF-15 on DCs. The results showed that GDF-15 expression was higher in the ovarian cancer patients compared to that in the healthy women. The TIMER algorithm revealed that highly GDF-15 expression is associated with immune DC infiltration in immunoreactive high-grade serous carcinoma. A further study showed that GDF-15 suppressed DCs maturation, as well as IL-12p40 and TNF-α secretion, the length and number of protrusions and the migration. More importantly, CD44 in the surface of DCs interacted with GDF-15. The overexpression of CD44 in DCs resulted in the suppression of the inhibitory effect of GDF-15 on the length and number of DC synapses. In DCs overexpressing CD44 the inhibition of GDF-15 on the expression of CD11c, CD83 and CD86 was decreased, while in DCs with a knockdown of CD44 the inhibition was further enhanced. Knockdown of CD44 in DCs enhanced the inhibitory effect of GDF-15 on DC migration, while the overexpression of CD44 inhibited the inhibitory effect of GDF-15 on DC migration. In conclusion, the present study suggested that GDF-15 might facilitate ovarian cancer immune escape by interacting with CD44 in DCs to inhibit their function.

The accuracy and feasibility of noninvasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics.

BACKGROUND: To evaluate the accuracy and feasibility of noninvasive prenatal testing (NIPT) according to the results of NIPT and pregnancy outcomes with different indications. METHODS: Between October 2014 and December 2020, 20,626 pregnant women who received NIPT were included in this study. The positive predictive value (PPV) of trisomy 21, 18, and 13 (T21, T18, T13), sex chromosome abnormalities (SCAs), other chromosomal aneuploidies, and chromosomal microdeletion/microduplication were calculated. The positive results of NIPT were confirmed by amniocentesis, Karyotype analysis, and chromosome microarray analysis (CMA). RESULTS: In total, 263 positive cases (263/20,626, 1.28%) were detected by NIPT, of which T21, T18, and T13 were 69, 26, and 9 cases, respectively. Sex chromosome abnormalities (SCAs), other chromosomal aneuploidies, and copy number variants (CNVs) were 69, 12, and 38 cases, respectively. There were true positive in 49 of T21, 13 of T18, 1 of T13, 32 of SCAs, 1 of other chromosomal aneuploidies, and 15 of CNVs. The NIPT sensitivity of T21, T18, T13, SCAs, other chromosomal aneuploidies, and CNVs was all 100%, the specialty was 99.90%, 99.94%, 99.96%, 99.82%, 99.95%, 99.89%, and the PPV was 71.01%, 50.00%, 11.11%, 46.38%, 8.33%, 39.47%, respectively. The PPV was high in T21, moderate in T18 and SCAs, and low in T13 and other chromosomal abnormalities. CONCLUSION: NIPT has high accuracy, specificity and and can effectively avoid the occurrence of birth defects, but it cannot replace prenatal diagnosis. The accuracy, specificity, and sensitivity of NIPT in detecting sex chromosomes, chromosome microdeletion/microduplication, and other chromosomal abnormalities should be improved.

Neurophysiolgical implications in sialidosis type 1: a case report.

Sialidosis is a rare autosomal recessive hereditary disease caused by NEU1 gene mutations. A 25-year-old woman developed generalized tonic-clonic seizures since teenage, followed by progressive visional decline and limb myoclonus. Her sister had similar presentations. Both patients were products of a consanguineous marriage. Electroencephalography (EEG) revealed extensive paroxysmal spiky beta brush. Somatosensory evoked potentials (SEP) after stimulation of median nerves demonstrated giant SEP and C-reflex support the cortical origin of myoclonus. Genetic tests confirmed that both sisters carried the known pathogenic homozygous mutation of c.544A > G in exon 3 of the NEU1 gene. The diagnosis of sialidosis type 1 was then made. This suggests that neurophysiological abnormalities, especially spiky beta brush on EEG, might facilitate the early diagnosis of sialidosis type 1.

Construction of a predictive model for radiation proctitis after radiotherapy for female pelvic tumors based on machine learning. / åŸºäºŽæœºå™¨å­¦ä¹ æž„å»ºå¥³æ€§ç›†è ”è‚¿ç˜¤æ”¾å°„æ²»ç–—åŽæ”¾å°„æ€§ç›´è‚ ç‚Žçš„é¢„æµ‹æ¨¡åž‹.

OBJECTIVES: Radiation therapy is a main method for female pelvic malignancies, which can cause some adverse reactions, such as radiation proctitis (RP). The incidence of RP is highly positively correlated with radiation dose. There is an urgent need for a scientific method to accurately predict the occurrence of RP to help doctors make clinical decisions. In this study, based on the clinical data of female pelvic tumor patients and dosimetric parameters of radiotherapy, the random forest method was used to screen the hub features related to the occurrence of RP, and then a machine learning algorithm was used to construct a risk prediction model for the occurrence of RP, in order to provide technical support and theoretical basis for the prediction and prevention of RP. METHODS: A total of 100 female patients with pelvic tumors, who received static three-dimensional conformal intensity-modulated radiation therapy in the Department of Radiation Oncology of the Affiliated Hospital of Xiangnan University from January 2019 to December 2020, were retrospectively collected, and their clinically relevant data and radiotherapy planning system data were collected. During radiotherapy and 18 months after radiotherapy, 35 cases developed RP (RP group), and the remaining 65 cases had no RP (non-RP group). The clinical and dosimetric characteristics of patients were ranked by the importance of random forest algorithm, and the independent prognostic characteristics associated with the occurrence of RP were selected for machine learning modeling. A total of 6 machine learning algorithms including support vector machines, random forests, logistic regression, lightweight gradient boosting machines, Gaussian naïve Bayes, and adaptive enhancement were used to build models. The performance of the model was evaluated by the area under the receiver operating characteristic curve (AUC), accuracy, sensitivity, specificity, positive predictive value, negative predictive value, and F1 score. Finally, the random forest model was determined as the prediction model, and the calibration curve and decision curve of the prediction model were drawn to evaluate the accuracy and clinical benefit of the model. RESULTS: The parameters for random forest prediction model in the training set were as follow: AUC, 1.000, accuracy, 0.988, sensitivity, 1.000, specificity, 1.000, positive predictive value, 1.000, negative predictive value, 0.981, and F1 score, 1.000. In validation set, AUC was 0.713, accuracy was 0.640, sensitivity was 0.618, specificity was 0.822, positive predictive value was 0.500, negative predictive value was 0.656, and F1 score was 0.440. Random forest showed high predictive performance. Moreover, the Brief of the calibration curve for the prediction model was 0.178, the prediction accuracy was high, and the decision curve showed that the prediction model could benefit clinically. CONCLUSIONS: Based on the clinical and dosimetric parameters for the female pelvic tumor patients, the prediction model of radiation proctitis constructed by random forest algorithm has high predictive ability and strong clinical usability.

Identification and analysis of genes associated with lung adenocarcinoma by integrated bioinformatics methods.

Lung adenocarcinoma (LUAD) is one of the most common forms of lung cancer, with a very high mortality rate. Although the treatments available for LUAD have become more effective in recent years, significant improvement is still needed. Advances in sequencing technologies and bioinformatics analysis have enabled new approaches to be developed for identifying drug targets. In this work we utilized data from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases to identify hub genes related to LUAD through Weighted Gene Correlation Network Analysis (WGCNA) and other bioinformatics methods, with the goal of identifying new drug targets for cancer treatment.

Curcumin Antagonizes Glucose Fluctuation-Induced Renal Injury by Inhibiting Aerobic Glycolysis via the miR-489/LDHA Pathway.

It has been considered that glucose fluctuation (GF) plays a role in renal injury and is related to diabetic nephropathy (DN) development. But the mechanism is still unclear. Aerobic glycolysis has become a topical issue in DN in recent years. There is an internal connection between GF, aerobic glycolysis, and DN. Curcumin (Cur) is a principal curcuminoid of turmeric and possesses specific protective properties in kidney functions. Cur also participates in the regulation of aerobic glycolysis switch. In this study, we first measured the levels of aerobic glycolysis and evaluated Cur's inhibitory ability in a cell model of HEK-293 under the condition of oscillating high glucose. The results indicated that GF exacerbated inflammation injury, oxidative stress, and apoptosis in HEK-293 cell, while Cur alleviated this cytotoxicity induced by GF. We found that GF increased aerobic glycolysis in HEK-293 cells and Cur presented a dose-dependent weakening effect to this exacerbation. Next, we built a panel of 17 miRNAs and 8 lncRNAs that were previously reported to mediate the Warburg effect. Our RT-qPCR results indicated that GF reduced the miR-489 content in the HEK-293 cell model and Cur could prevent this downregulation. Then, we planned to explore the character of miR-489 in Cur-triggered attenuation of the Warburg effect under GF condition. Our findings presented that Cur prevented GF-triggered aerobic glycolysis by upregulating miR-489 in HEK-293 cells. Next, we choose the miR-489/LDHA axis for further investigation. We confirmed that Cur prevented GF-triggered aerobic glycolysis via the miR-489/LDHA axis in HEK-293 cells. In conclusion, this study presented that Cur prevented GF-triggered renal injury by restraining aerobic glycolysis via the miR-489/LDHA axis in the HEK-293 cell model.

Clinical experience regarding the accuracy of NIPT in the detection of sex chromosome abnormality.

BACKGROUND: The present study aimed to determine the accuracy (Z-value) of non-invasive prenatal testing (NIPT) results for sex chromosome aneuploidy (SCA) in routine clinical practice. METHODS: Among a cohort of 12505 pregnant females, maternal plasma samples collected from our hospital were utilized for SCA analysis by NIPT detection. The positive samples were validated through an invasive procedure and karyotyping analysis. The predictive value from positive samples in sex chromosomes was compared to analyze the accuracy of the Z-value. RESULTS: There were 65 females with sex chromosome abnormalities within 12,505 pregnant females in the NIPT detection, which was validated by karyotype analysis of amniotic fluid puncture through sequencing, as well as bioinformatics analysis, with 18 true-positive samples. The true-positive results with 45,X, 47,XXY, 47,XXX and 47,XYY karyotypes predicted by NIPT were 14.29%, 50.00%, 66.67% and 71.43%, respectively. Among sex chromosome cases, the findings indicated that positive NIPT results with Z ≥ 9 show a higher accuracy. CONCLUSIONS: The findings of the present study demonstrate that the positive predictive value of NIPT for sex chromosome abnormalities is distinctive. The positive predictive value was highest for 47,XYY and lowest for 45,X. Additionally, the Z-value results are considered to be correlated with the accuracy of NIPT, although further studies need to be made.

Regioselective Reversal Cyclization To Access either Eight-Membered Sulfur-Containing Heterocycle-Fused γ-Pyrones or 2-(1,4-Dithianyl)-4-pyrones from the Same Precursors.

A regioselective reverse strategy for the construction of eight-membered sulfur-containing heterocycle-fused γ-pyrones and 2-(1,4-dithianyl)-4-pyrones starting from 2-diazo-γ-pyrones and dithioacetals was achieved for the first time. The process combines C-S bond formation via sulfur ylides and C-C bond formation via electron transfer to afford the target molecules in a facile manner with 100% regioselectivity and in excellent isolated yields (up to 90%).

Synthesis and Rhodium(II)-Mediated Cascade Cyclopropanation/Rearrangement/Isomerization of Diazo 2,3,5-Trisubstituted Furans: The Construction of Penta-substituted Aromatic Compounds.

Ag(I)-catalyzed synthesis of diazo-trisubstituted furans starting from diazo-cumulated allenyl ketones has been investigated. The Rh2(OAc)4-catalyzed reaction of the diazo 2,3,5-trisubstituted furans provided penta-substituted aromatics via cascade intermolecular cyclopropanation/rearrangement/isomerization. The cyclopropanation on the furan ring/rearrangement of cyclopropane moiety has been reported. A reasonable mechanism is proposed.

Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities.

BACKGROUND: Central nervous system (CNS) abnormalities are a group of serious birth defects associated with high rates of stillbirths, infant death, or abnormal development, and various disease-causing copy number variations play a much more important role in the etiology of CNS abnormalities. This study intends to present a retrospective study of the prenatal diagnosis and the pregnancy outcome of fetuses diagnosed with CNS abnormalities, and evaluate the clinical value of chromosomal microarray analysis (CMA) in prenatal diagnosis of CNS abnormalities. METHODS: A total of 356 fetuses with CNS abnormalities with or without other ultrasound abnormalities subjected to invasive prenatal diagnosis at the first affiliated hospital of Air Force Medical University from January 2015 to August 2018. All cases have performed both karyotyping and CMA concurrently, but 20 fetuses with chromosome aneuploidy were excluded in the current study. RESULTS: The CMA identified pathogenic copy number variants (pCNVs) in 27/336 (8.03%) fetuses, likely pCNVs in 8/336 (2.38%) fetuses, and variants of unknown significance (VOUS) in 11/336 (3.27%) fetuses. A total of 222 cases had single CNS abnormalities and the pCNVs detection rate was 5.86% (13/222), the remaining 114 cases including CNS abnormalities plus other structural abnormalities, ultrasonographic soft markers and two or more CNS abnormalities, the pCNVs detection rate was 12.3% (14/114). CONCLUSIONS: Fetuses with CNS abnormalities have a higher risk of chromosomal abnormalities, our study showed that CNVs play an important role in the etiology of CNS abnormalities. The application of CMA could increase the detection rate of pCNVs causing CNS abnormalities.

Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD sequence studies fail to found the causative alteration in two cases. This study intends to evaluate the disease-causing mutations and explains the correlation genotype-phenotype. METHODS: The mRNA analysis and Long-range PCR with sequencing were used for molecular diagnosis. RESULTS: In case one, an insertion of 78 nucleotides between exons 40 and 41 (r.5739_5740insMN602429:r415_492) was identified in case one. The insertion sequences were highly homologous to the intron 40 (NG_012232.1:g.1001760_g.1001837). Long-range PCR with sequencing analysis showed that a novel deep intronic DMD mutation (NG_012232.1:g.1001838A>G) was identified, generating a premature stop codon and terminating protein translation. The likely pathogenic mutation was detected in fetal sample. In case two, an insertion of 74 nucleotides which located inside the consensus sequence AG/GT was detected between exons 2 and 3 (r.93_94insMN584887:r61_134), which resulted in a premature stop codon. The insertion sequences were traceable in the intron 2 of DMD gene (NG_012232.1:g.415926_g.415999). We did not perform prenatal DMD gene diagnosis for case two due to lack of sufficient genetic information. CONCLUSION: These findings clarify importance of proceeding to the mRNA analysis when no causative mutations were found neither by MLPA/DHPLC nor gene sequencing so as to reach the molecular confirmation of DMD and carry out an accurate genetic assessment/ carrier status testing.

The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication.

Objective: There is scant information available about fetuses with 7q11.23 copy number variants (CNVs) found during pregnancy. We studied the clinical significance of 7q11.23 CNVs in prenatal diagnosis. Materials and methods: The amniocentesis was performed on pregnant women who underwent ultrasound (US) of fetal abnormalities. After karyotype analysis, CNVs were detected using BACs-on-Beads (BoBs) technique and chromosome microarray analysis (CMA). Results: Of seven fetuses with CNV of 7q11.23, five had microdeletions and two had microduplications. Case 1 had a 7q11.23 microdeletion along with other CNVs. Case 7 was a newborn with a normal phenotype and 7q11.23 microduplication. Conclusion: The CNVs in 7q11.23 results in many clinical manifestations, but the specificity of clinical features is not high. This study demonstrated that BoBs combined with CMA allows prenatal diagnosis of CNVs involving 7q11.23, and provide a clinical basis for prenatal diagnosis and genetic counseling of such CNVs.

Monitoring Hydrogen Evolution Reaction Catalyzed by MoS2 Quantum Dots on a Single Nanoparticle Electrode.

Hydrogen evolution reaction (HER) catalyzed by molybdenum sulfide quantum dots (MoS2 QDs) has attracted extensive attention in the energy field. Monitoring HER catalyzed by MoS2 QDs based on a glass nanopore with an electrochemically confined effect was proposed for the first time. MoS2 QDs inside the glass nanopore is driven toward the orifice of the nanopore and bonded with the Ag nanoparticles (Ag NPs) to form a single nanocomposite. When enough voltage is applied across the orifice, the single Ag NP acts as a single nanoparticle electrode to conduct the electrochemically bipolar reaction on its two extremities. In the process, HER is catalyzed by MoS2 QDs, and Ag NPs are oxidized at the same time. The appearance of blockages on the elevated ionic current is attributed to the generation of a H2 bubble. Furthermore, by analyzing the modulations in the ionic current oscillation, the frequency of hydrogen bubble generation that is related to the catalytic efficiency of MoS2 QDs could be estimated. The results reveal the capability of the glass nanopore for the real-time monitoring electrocatalytic behavior, which makes the glass nanopore an ideal candidate to further reveal the heterogeneity of catalytic capability at the single particle level.