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1.
Chemosphere ; 362: 142647, 2024 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-38897322

RESUMEN

Contamination of ground water and soil with toxic metalloids like arsenic (As) poses a serious hazard to the global agricultural food production. One of the best ways to restrict entry of As into the food chain is selection of germplasms which accrue extremely low level of As in grains. Here, we screened diverse maize genotypes under high arsenite (100 µM AsIII) stress and identified PMI-PV-9 and PMI-PV-3 as AsIII-tolerant and -sensitive maize genotype respectively. Expression of genes associated with As uptake, vacuolar sequestration, biosynthesis of phytochelatins, root-to-shoot translocation, in vivo ROS generation, fine tuning of antioxidant defense system, DNA and membrane damage, H2O2 and superoxide anion (O2•-) levels were compared among the selected genotypes. PMI-PV-9 plants performed much better than PMI-PV-3 in terms of plant growth with no visible symptom of As toxicity. Susceptibility of PMI-PV-3 to AsIII stress may be attributed to comparatively low expression of genes involved in phytochelatins (PCs) biosynthesis. Concomitant decrease in ABCC1 expression might be another key factor for futile sequestration of AsIII into root vacuoles. Moreover, up-regulation of ZmNIP3;1 might contribute in high root-to-leaf As translocation. Substantial spike in H2O2, O2•- and MDA levels indicates that PMI-PV-3 plants have experienced more oxidative stress than PMI-PV-9 plants. Appearance of prominent deep brown and dark blue spots/stripes on leaves as revealed after DAB and NBT staining respectively suggest severe oxidative burst in PMI-PV-3 plants. Marked reduction in DHAR and MDAR activity rendered PMI-PV-3 cells to recycle ascorbate pool ineffectively, which might have exacerbated their susceptibility to AsIII stress. In a nutshell, incompetent PCs mediated detoxification system and disruption of cellular redox homeostasis owing to feeble antioxidant defence system resulting oxidative burst might be the prime reasons behind reduced performance of PMI-PV-3 plants under AsIII stress.

2.
Nano Lett ; 24(20): 6043-6050, 2024 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-38717152

RESUMEN

Studying antiferromagnetic domains is essential for fundamental physics and potential spintronics applications. Despite their importance, few systematic studies have been performed on antiferromagnet (AFM) domains with high spatial resolution in van der Waals (vdW) materials, and direct probing of the Néel vectors remains challenging. In this work, we found multidomain states in the vdW AFM NiPS3, a material extensively investigated for its unique magnetic exciton. We employed photoemission electron microscopy combined with the X-ray magnetic linear dichroism (XMLD-PEEM) to image the NiPS3's magnetic structure. The nanometer-spatial resolution of XMLD-PEEM allows us to determine local Néel vector orientations and discover thermally fluctuating Néel vectors that are independent of the crystal symmetry even at 65 K, well below the TN of 155 K. We demonstrate that an in-plane orbital moment of the Ni ion is responsible for the weak magnetocrystalline anisotropy. The observed thermal fluctuations of the antiferromagnetic domains may explain the broadening of magnetic exciton peaks at higher temperatures.

3.
Small ; : e2402538, 2024 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-38770748

RESUMEN

Solving the problem of oil and water pollution is an important topic in environmental protection. The separation of oil-water emulsion with high efficiency and low consumption has been the direction of social efforts. Membrane separation technology combined with surface wettability and pore size screening is considered to be one of the most promising ways to separate oil-water emulsions. In this paper, the polyvinylidene difluoride (PVDF) membrane is prepared by combining the two methods of blending and coating modification as a double barrier. The prepared PVDF membrane can completely wet water, achieve superhydrophilic in air, and superoleophobic underwater. The separation efficiency and flux are 99.57% and 678 L h-1 m-2 bar-1, respectively, for toluene emulsions containing surfactants with an average particle size of 1.7 µm. At the same time, it can also effectively separate different kinds of light/heavy oils. After three cycles of testing still maintain high efficiency of separation. The results show that the prepared PVDF membrane can effectively separate the emulsion containing surfactant with smaller particle size distribution of oil droplets. This method provides a new strategy for the separation of oil-water emulsions and has broad application prospects.

4.
Adv Sci (Weinh) ; 11(25): e2401048, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38647400

RESUMEN

Topological magnetic states are promising information carriers for ultrahigh-density and high-efficiency magnetic storage. Recent advances in two-dimensional (2D) magnets provide powerful platforms for stabilizing various nanometer-size topological spin textures within a wide range of magnetic field and temperature. However, non-centrosymmetric 2D magnets with broken inversion symmetry are scarce in nature, making direct observations of the chiral spin structure difficult, especially for antiferromagnetic (AFM) skyrmions. In this work, it is theoretically predicted that intrinsic AFM skyrmions can be easily triggered in XY-type honeycomb magnet NiPS3 monolayer by alloying of Cr atoms, due to the presence of a sizable Dzyaloshinskii-Moriya interaction. More interestingly, the diameter of the AFM skyrmions in Ni3/4Cr1/4PS3 decreases from 12 to 4.4 nm as the external magnetic field increases and the skyrmion phases remain stable up to an external magnetic field of 4 T. These results highlight an effective strategy to generate and modulate the topological spin texture in 2D magnets by alloying with magnetic element.

5.
J Plant Physiol ; 295: 154207, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38430574

RESUMEN

Alfalfa (Medicago sativa) is one of the most widely cultivated forage crops in the world. However, alfalfa yield and quality are adversely affected by salinity stress. Nodulin 26-like intrinsic proteins (NIPs) play essential roles in water and small molecules transport and response to salt stress. Here, we isolated a salt stress responsive MsNIP2 gene and demonstrated its functions by overexpression in alfalfa. The open reading frame of MsNIP2 is 816 bp in length, and it encodes 272 amino acids. It has six transmembrane domains and two NPA motifs. MsNIP2 showed high identity to other known NIP proteins, and its tertiary model was similar to the crystal structure of OsNIP2-1 (7cjs) tetramer. Subcellular localization analysis showed that MsNIP2 protein fused with green fluorescent protein (GFP) was localized to the plasma membrane. Transgenic alfalfa lines overexpressing MsNIP2 showed significantly higher height and branch number compared with the non-transgenic control. The POD and CAT activity of the transgenic alfalfa lines was significantly increased and their MDA content was notably reduced compared with the control group under the treatment of NaCl. The transgenic lines showed higher capability in scavenging oxygen radicals with lighter NBT staining than the control under salt stress. The transgenic lines showed relative lower water loss rate and electrolyte leakage, but relatively higher Na+ content than the control line under salt stress. The relative expression levels of abiotic-stress-related genes (MsHSP23, MsCOR47, MsATPase, and MsRD2) in three transgenic lines were compared with the control, among them, only the expression of MsCOR47 was up-regulated. Consequently, this study offers a novel perspective for exploring the function of MsNIP2 in improving salt tolerance of alfalfa.


Asunto(s)
Medicago sativa , Tolerancia a la Sal , Tolerancia a la Sal/genética , Medicago sativa/metabolismo , Plantas Modificadas Genéticamente/genética , Plantas Modificadas Genéticamente/metabolismo , Estrés Fisiológico , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Agua/metabolismo , Regulación de la Expresión Génica de las Plantas , Salinidad
6.
Curr Oncol ; 31(3): 1445-1459, 2024 03 09.
Artículo en Inglés | MEDLINE | ID: mdl-38534942

RESUMEN

Peritoneal metastasis is a common finding in patients with advanced gastric cancer. Beyond systemic chemotherapy, additive local treatments such as cytoreductive surgery and intraperitoneal chemotherapy are considered an inherent part of different multimodal treatment concepts for selected patients with peritoneal metastatic gastric cancer. This review article discusses the role of cytoreductive surgery (CRS) and intraperitoneal chemotherapy, including HIPEC, NIPS, and PIPAC, as additive therapeutic options with curative and palliative intent.


Asunto(s)
Hipertermia Inducida , Neoplasias Peritoneales , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/cirugía , Neoplasias Peritoneales/secundario , Terapia Combinada , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico
7.
Clin Chim Acta ; 554: 117758, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38184139

RESUMEN

OBJECTIVE: This study aimed to combine Z-scores to evaluate the effects of rare autosomal trisomies (RATs) in non-invasive prenatal screening (NIPS) on pregnancy outcomes at a single center. METHODS: We retrospectively collected the clinical data of women with high-risk RATs results using NIPS at a single center between January 2017 and December 2021. NIPS-positive results were separated into three groups based on the Z-value of RATs (Group1: 6 ≤ Z < 10; Group2: 10 ≤ Z < 15; Group 3: Z ≥ 15). Pregnancy outcomes of women with RATs were compared with the low-risk NIPS group. RESULTS: Overall, 83 RATs were identified in 23,321 NIPS results at our center. Prenatal diagnosis was conducted for 55 patients, and no case was confirmed, with a positive predictive value (PPV) of zero. Fifteen of these patients had adverse pregnancy outcomes, including delivered preterm and/or birth weight (9/15, 60.0 %), structural abnormalities (4/15, 26.7 %), miscarriage (1/15, 6.7 %), and intrauterine death (1/15, 6.7 %). There were 8 (8/22, 36.4 %) adverse pregnancy outcomes in Group 3, which was significantly higher than that in the low-risk NIPS group (p < 0.01). No significant difference was observed between the control group and Group 1 and Group 2 (p > 0.01). CONCLUSIONS: Clinicians should pay more attention to the RATs results when the Z-score is ≥ 15. The data are available for clinicians to guide the prenatal diagnosis of RATs and pregnancy management.


Asunto(s)
Resultado del Embarazo , Trisomía , Embarazo , Humanos , Femenino , Trisomía/diagnóstico , Trisomía/genética , Estudios Retrospectivos , Diagnóstico Prenatal/métodos , Pruebas Genéticas , Aneuploidia
8.
Clin Chim Acta ; 554: 117770, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38199578

RESUMEN

OBJECTIVE: To explore the impact of maternal factors on the false-positive fetal sex chromosome aneuploidies (SCAs) results obtained through noninvasive prenatal screening (NIPS). METHODS: We retrospectively analyzed pregnant women with high-risk SCAs as revealed using NIPS between January 2017 and December 2022. Clinical data such as results of invasive prenatal diagnoses, copy number variation sequencing (CNV-seq) and pregnancy outcomes were analysed. RESULTS: Overall, 177 (0.6 %) women with SCA-positive results were collected from 27,941 patients who had undergone NIPS. Among them, 110 (62.2 %) pregnant women chose prenatal diagnosis and 39 (35.5 %) cases were confirmed. For the women with monosomy X false-positive results from the NIPS, 53.1 % (17/32) were found to be maternal mosaicism monosomy X. In cases with 47, XXX false-positive results, 60 % (6/10) of them were maternal 47,XXX (5 cases) or maternal mosaicism 47,XXX (1 case). One (1/6, 16.7 %) case of maternal mosaicism monosomy X was detected in the false positive results of 47, XXY/47, XYY revealed. The incidence rate of maternal sex chromosome abnormalities was positively correlated with the Z-score of ChrX. When the Z-score of ChrX ≥ 15, more than 50 % of pregnant women were found to be maternal sex chromosome abnormalities, and when Z-score ≥ 30, the incidence rate was as high as 100 %. CONCLUSIONS: Maternal monosomy X mosaicism and trisomy X respectively played an important role in the discordance of 45, X and 47, XXX revealed by NIPS. CNV-seq was recommended for the pregnant women at risk of maternal sex chromosome abnormalities, which could help clinicians to provide more accurate and efficient advice during genetic counseling and to guide appropriate prenatal diagnosis strategy for the next pregnancy.


Asunto(s)
Trastornos de los Cromosomas Sexuales del Desarrollo Sexual , Trisomía , Síndrome de Turner , Femenino , Humanos , Embarazo , Masculino , Trisomía/diagnóstico , Trisomía/genética , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Mosaicismo , Variaciones en el Número de Copia de ADN , Estudios Retrospectivos , Aberraciones Cromosómicas Sexuales , Diagnóstico Prenatal/métodos , Cromosomas Humanos X/genética , Aneuploidia
9.
Clin Immunol ; 258: 109860, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38065369

RESUMEN

Pathogens commonly enter mucosal barrier tissues and tissue-resident memory T cells (TRM) are essential for preventing mucosal lesions. However, the immunological properties of TRM cells in nasal mucosa are poorly known. In comparison with control tissues, decreasing CD103+ TRM cells were observed in Chronic rhinosinusitis with nasal polyps (CRSwNPs) and sinonasal inverted papilloma (SNIP), which presented high capability to produce effector cytokines. In CRSwNPs, we found that CD103+ TRM cells with higher cytokine and Granzyme B coexpressed high PD-1, CD103- TRM cells expressed higher IL-10. Homogenates isolated from CRSwNPs induced CD103 expression on peripheral T cells which could be inhibited by blocking TGF-ß. The frequencies of CD103+ TRM cells in CRSwNPs were extremely negatively correlated with neutrophil infiltration. CD103+ TRM cells from Staphylococcus aureus positive CRSwNPs had a stronger response to SEB. Taken together, two phenotypically and functionally distinct subsets of TRM cells exist in nasal tissues and play critical roles in the progress of CRSwNPs and SNIPs.


Asunto(s)
Linfocitos T CD8-positivos , Neoplasias , Humanos , Células T de Memoria , Memoria Inmunológica , Citocinas/metabolismo , Mucosa Nasal/metabolismo
10.
Nano Lett ; 23(22): 10189-10195, 2023 Nov 22.
Artículo en Inglés | MEDLINE | ID: mdl-37931216

RESUMEN

The unique discovery of the magnetic exciton in van der Waals antiferromagnet NiPS3 arises between two quantum many-body states of a Zhang-Rice singlet excited state and a Zhang-Rice triplet ground state. Simultaneously, the spectral width of photoluminescence originating from this exciton is exceedingly narrow as 0.4 meV. These extraordinary properties, including the extreme coherence of the magnetic exciton in NiPS3, beg many questions. We studied doping effects using Ni1-xCdxPS3 using two experimental techniques and theoretical studies. Our experimental results show that the magnetic exciton is drastically suppressed upon a few % Cd doping. All this happens while the width of the exciton only gradually increases and the antiferromagnetic ground state is robust. These results highlight the lattice uniformity's hidden importance as a prerequisite for coherent magnetic exciton. Finally, an exciting scenario emerges: the broken charge transfer forbids the otherwise uniform formation of the coherent magnetic exciton in (Ni,Cd)PS3.

11.
Front Med (Lausanne) ; 10: 1265090, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38020177

RESUMEN

Non-invasive prenatal testing (NIPT) is a pioneering technique that has consistently advanced the field of prenatal testing to detect genetic abnormalities and conditions with the aim of decreasing the incidence and prevalence of inherited conditions. NIPT remains a method of choice for common autosomal aneuploidies, mostly trisomy 21, and several monogenic disorders. The advancements in gene sequencing techniques have expanded the panel of conditions where NIPT could be offered. However, basic research on the impact of several genetic conditions lags behind the methods of detection of these sequence aberrations, and the impact of the expansion of NIPT should be carefully considered based on its utility. With interest from commercial diagnostics and a lack of regulatory oversight, there remains a need for careful validation of the predictive values of different tests offered. NIPT comes with many challenges, including ethical and economic issues. The scientific evidence, technical feasibility, and clinical benefit of NIPT need to be carefully investigated before new tests and developments are translated into clinical practice. Moreover, the implementation of panel expansion of NIPT should accompany expert genetic counseling pre- and post-testing.

12.
Molecules ; 28(19)2023 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-37836776

RESUMEN

Highly porous membranes based on polyvinylidene fluoride (PVDF) with the addition of nanoscale particles of non-magnetic and magnetic iron oxides were synthesized using a combined method of non-solvent induced phase separation (NIPS) and thermo-induced phase separation (TIPS) based on the technique developed by Dr. Blade. The obtained membranes were characterized using SEM, EDS, XRD, IR, diffuse reflectance spectroscopy, and fluorescent microscopy. It was shown that the membranes possessed a high fraction of electroactive phase, which increased up to a maximum of 96% with the addition of 2 wt% of α-Fe2O3 and α/γ-Fe2O3 nanoparticles. It was demonstrated that doping PVDF with nanoparticles contributed to the reduction of pore size in the membrane. All membranes exhibited piezocatalytic activity in the degradation of Rhodamine B. The degree of degradation increased from 69% when using pure PVDF membrane to 90% when using the composite membrane. The nature of the additive did not affect the piezocatalytic activity. It was determined that the main reactive species responsible for the degradation of Rhodamine B were •OH and •O2-. It was also shown that under piezocatalytic conditions, composite membranes generated a piezopotential of approximately 2.5 V.

13.
Polymers (Basel) ; 15(20)2023 Oct 16.
Artículo en Inglés | MEDLINE | ID: mdl-37896351

RESUMEN

The polyethylene lithium-ion battery separator is coated with a polymer by means of a roll-to-roll (R2R) gravure coating scheme to enhance the thermal stability. The polyvinylidene fluoride (PVDF) or polyvinylidene fluoride-co-hexafluoropropylene (PVDF-HFP) is gravure-coated, and the pores are fabricated based on online nonsolvent-induced phase separation (NIPS). N-methylpyrrolidone is used as a solvent, and deionized water or a methanol mixture thereof is exploited as a nonsolvent in NIPS. Scanning electron microscopy confirms that the polymer film is formed and that the pores are well developed. The thermal shrinkage decreased by 20.0% and 23.2% compared to that of the bare separator due to the coating of PVDF and PVDF-HFP, respectively. The R2R gravure coating scheme is proven to be fully functional to tailor the properties of lithium-ion battery separators.

14.
BMC Pregnancy Childbirth ; 23(1): 593, 2023 Aug 19.
Artículo en Inglés | MEDLINE | ID: mdl-37598172

RESUMEN

BACKGROUND: Standard noninvasive prenatal screening(NIPS) is an accurate and reliable method to screen for common chromosome aneuploidies, such as trisomy 21, 18 and 13. Extended NIPS has been used in clinic for not only aneuploidies but also copy number variants(CNVs). Here we aim to define the range of chromosomal abnormalities that should be able to identify by NIPS in order to be an efficient extended screening test for chromosomal abnormalities. METHODS: A prospective study was conducted, involving pregnant women without fetal sonographic structural abnormalities who underwent amniocentesis. Prenatal samples were analyzed using copy number variation sequencing(CNV-seq) to identify fetal chromosomal abnormalities. RESULTS: Of 28,469 pregnancies included 1,022 (3.59%) were identified with clinically significant fetal chromosome abnormalities, including 587 aneuploidies (2.06%) and 435 (1.53%) pathogenic (P) / likely pathogenic (LP) CNVs. P/LP CNVs were found in all chromosomes, but the distribution was not uniform. Among them, P/LP CNVs in chromosomes 16, 22, and X exhibited the highest frequencies. In addition, P/LP CNVs were most common on distal ends of the chromosomes and in low copy repeat regions. Recurrent microdeletion/microduplication syndromes (MMS) accounted for 40.69% of total P/LP CNVs. The size of most P/LP CNVs (77.47%) was < 3 Mb. CONCLUSIONS: In addition to aneuploidies, the scope of extended NIPS should include the currently known P/LP CNVs, especially the regions with recurrent MMS loci, distal ends of the chromosomes, and low copy repeat regions. To be effective detection should include CNVs of < 3 Mb. Meanwhile, sufficient preclinical validation is still needed to ensure the clinical effect of extended NIPS.


Asunto(s)
Variaciones en el Número de Copia de ADN , Feto , Embarazo , Humanos , Femenino , Estudios Prospectivos , Aberraciones Cromosómicas , Aneuploidia , China
15.
Artículo en Inglés | MEDLINE | ID: mdl-37470702

RESUMEN

OBJECTIVES: The performance of non-invasive prenatal screening using cell-free DNA testing in maternal blood in twin pregnancies is still under-evaluated, while serum marker-based strategies yield poor results. This study aims at assessing the performance of non-invasive prenatal screening for trisomy 21 in twin pregnancies as a first-tier test. The secondary objectives were to assess the failure rate and associated factors. METHODS: This retrospective cohort study included twin pregnancies for which non-invasive prenatal screening using cell-free DNA was performed as the primary screening strategy between May 2017 and October 2019. We used the NIPT VeriSeq® test for in vitro diagnosis and set a fetal fraction cut-off of 4% for monochorionic pregnancies and 8% for dichorionic ones. Clinical data and pregnancy outcome was collected from either physicians or midwives through a questionnaire or were retrieved directly on site. We calculated the performance of non-invasive cell free DNA screening for trisomy 21 and analyzed failure rate and factors. RESULTS: We included 2577 multiple pregnancies among which 1885 (84.8%) were retained after excluding vanishing twins and pregnancies without follow-up. Overall, there were six confirmed trisomy 21 cases (0.32%). For trisomy 21, sensitivity was 100% (95% CI, 61-100%) and the false-positive rate 0.2% (95% CI, 0.07-0.6%). The primary failure rate was 4.6% with 4% due to insufficient fetal fraction. After a new blood draw (59.8% of failed cases), failure rate was only 1.5%. Body mass index and chorionicity were significantly correlated with the risk of failure. CONCLUSION: This study adds further evidence on the high performance of NIPS in twins, as part of the primary screening strategy for trisomy 21, at an extremely low false-positive rate. This article is protected by copyright. All rights reserved.

16.
Chemosphere ; 337: 139430, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37422221

RESUMEN

The ultimate structure of the membrane is determined using two important effects: (i) thermodynamic effect and (ii) kinetic effect. Controlling the mechanism of kinetic and thermodynamic processes in phase separation is essential for enhancing membrane performance. However, the relationship between system parameters and the ultimate membrane morphology is still largely empirical. This review focuses on the fundamental ideas behind thermally induced phase separation (TIPS) and nonsolvent-induced phase separation (NIPS) methods, including both kinetic and thermodynamic elements. The thermodynamic approach to understanding phase separation and the effect of different interaction parameters on membrane morphology has been discussed in detail. Furthermore, this review explores the capabilities and limitations of different macroscopic transport models used for the last four decades to explore the phase inversion process. The application of molecular simulations and phase field to understand phase separation has also been briefly examined. Finally, it discusses the thermodynamic approach to understanding phase separation and the consequence of different interaction parameters on membrane morphology, as well as possible directions for artificial intelligence to fill the gaps in the literature. This review aims to provide comprehensive knowledge and motivation for future modeling work for membrane fabrication via new techniques such as nonsolvent-TIPS, complex-TIPS, non-solvent assisted TIPS, combined NIPS-TIPS method, and mixed solvent phase separation.


Asunto(s)
Solventes , Termodinámica , Cinética , Inteligencia Artificial , Solventes/química
17.
Mol Genet Genomic Med ; 11(9): e2200, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37354111

RESUMEN

BACKGROUND: To explore and compare the clinical effects of high-resolution non-invasive prenatal screening (NIPS-Plus) for common/uncommon chromosomal aneuploidy and microdeletion/microduplication syndromes (MMS). METHODS: The current prospective study included a total of 25,380 pregnant women who performed NIPS-Plus, and amniocentesis was performed on women with MMS with the screening results to diagnose patients with suspected MMS. RESULTS: There were 415 samples with positive results for NIPS-Plus, included 275 with aneuploidy and 140 with MMS. After diagnosis by amniocentesis, 188 cases were confirmed as true positive, included46 cases of T21, 9 cases of T18, 1 case of T13, 34 cases of SCA, 41 cases of other chromosomal euploidy and 57 cases of MMS. In addition, no false negative cases were found, MMS was classified with 5 Mb with the cutoff value, and the PPV of different fragment size was counted, respectively. CONCLUSION: We found that the corresponding PPV was 44.66% with the fragment of copy number variation (CNV) being less than or equal to 5 Mb, and when it was greater than 5 Mb, the PPV was 29.73%, which suggested that NIPS-Plus was more suitable for screening the PPV of small fragment abnormalities. NIPS-Plus has a good application effect in routine aneuploidy screening and had the best detection effect for T21; moreover, it performed well in screening of MMS and had better detection effect on MMS with CNV fragment length less than 5 Mb. Based on the current results, we suggested that NIPS-Plus should be used as a comprehensive elementary prenatal screening method for all pregnant women, but for MMS caused by abnormal large fragment CNV, the detection method and efficiency still need to be improved.


Asunto(s)
Aneuploidia , Variaciones en el Número de Copia de ADN , Femenino , Humanos , Embarazo , Estudios Prospectivos , Diagnóstico Prenatal/métodos , Amniocentesis
18.
Arch Orthop Trauma Surg ; 143(9): 5603-5608, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37052665

RESUMEN

INTRODUCTION: This study prospectively investigated the pain response and physiological parameters [heart rate (HR) and oxygen saturation (SpO2)] during sequential casting in bilateral clubfoot. Additionally, it explored the role of non-nutritive sucking and human care contact on the observed responses during casting. METHODS: Subjects were allotted to control group (Group A with no intervention) and two intervention groups (Group B: non-nutritive sucking intervention, Group C: human care contact intervention). Neonatal Infant Pain Score (NIPS), heart rate (HR), and oxygen saturation (SpO2) were used to assess the response. RESULTS: The three groups matched in age and gender characteristics of the participants. Pain response was noted across all groups. The left foot demonstrated a statistically significant preexisting tachycardia which rose further during casting (p < 0.01). Intergroup comparisons revealed that the alteration for NIPS during casting was in following sequence (Group A > C > B, p < 0.00001). The effect of interventions offered in Group B and C lasted in the post-cast period as well (B > C). CONCLUSION: The clubfoot child exhibited moderate pain response during casting of both feet. A tachycardia was noted prior to initiation of second cast which further exaggerated with subsequent cast. Pacifier (non-nutritive sucking) intervention produced better control of pain response than human care contact during casting for both feet.


Asunto(s)
Pie Equinovaro , Lactante , Recién Nacido , Humanos , Niño , Pie Equinovaro/terapia , Moldes Quirúrgicos , Resultado del Tratamiento , Dolor/etiología
19.
Abdom Radiol (NY) ; 48(5): 1590-1598, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37095202

RESUMEN

Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnancy, usually between 9 and 12 weeks. Fragments of fetal cell-free deoxyribonucleic acid (DNA) floating in maternal plasma are detected and analyzed by this test to assess for chromosomal aberrations. Similarly, maternal tumor-derived cell-free DNA (ctDNA) released from the tumor cells also circulates in the plasma. Hence, the presence of genomic anomalies originating from maternal tumor-derived DNA may be detected on the NIPS-based fetal risk assessment in pregnant patients. Presence of multiple aneuploidies or autosomal monosomies are the most commonly reported NIPS abnormalities detected with occult maternal malignancies. When such results are received, the search for an occult maternal malignancy begins, in which imaging plays a crucial role. The most commonly detected malignancies via NIPS are leukemia, lymphoma, breast and colon cancers. Ultrasound is a reasonable radiation-free modality for imaging during pregnancy, specially when there are localizing symptoms or findings, such as palpable lumps. While there are no consensus guidelines on the imaging evaluation for these patients, when there are no localizing symptoms or clinically palpable findings, whole body MRI is recommended as the radiation-free modality of choice to search for an occult malignancy. Based on clinical symptoms, practice patterns, and available resources, breast ultrasound, chest radiographs, and targeted ultrasound evaluations can also be performed initially or as a follow-up for MRI findings. CT is reserved for exceptional circumstances due to its higher radiation dose. This article intends to increase awareness of this rare but stressful clinical scenario and guide imaging evaluation for occult malignancy detected via NIPS during pregnancy.


Asunto(s)
Neoplasias , Pruebas Prenatales no Invasivas , Embarazo , Humanos , Femenino , Diagnóstico Prenatal/métodos , Aneuploidia , ADN
20.
Lab Invest ; 103(4): 100043, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36870287

RESUMEN

Amplification biases caused by next-generation sequencing (NGS) for noninvasive prenatal screening (NIPS) may be reduced using single-molecule sequencing (SMS), during which PCR is omitted. Therefore, the performance of SMS-based NIPS was evaluated. We used SMS-based NIPS to screen for common fetal aneuploidies in 477 pregnant women. The sensitivity, specificity, positive predictive value, and negative predictive value were estimated. The GC-induced bias was compared between the SMS- and NGS-based NIPS methods. Notably, a sensitivity of 100% was achieved for fetal trisomy 13 (T13), trisomy 18 (T18), and trisomy 21 (T21). The positive predictive value was 46.15% for T13, 96.77% for T18, and 99.07% for T21. The overall specificity was 100% (334/334). Compared with NGS, SMS (without PCR) had less GC bias, a better distinction between T21 or T18 and euploidies, and better diagnostic performance. Overall, our results suggest that SMS improves the performance of NIPS for common fetal aneuploidies by reducing the GC bias introduced during library preparation and sequencing.


Asunto(s)
Síndrome de Down , Pruebas Prenatales no Invasivas , Embarazo , Femenino , Humanos , Aneuploidia , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Valor Predictivo de las Pruebas , Secuenciación de Nucleótidos de Alto Rendimiento/métodos
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