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Porcine reproductive and respiratory syndrome virus (PRRSV) has led to significant economic losses in the global swine industry. Type I interferon (IFN-I) plays a crucial role in the host's resistance to PRRSV infection. Despite extensive research showing that PRRSV employs multiple strategies to antagonise IFN-I induction, the underlying mechanisms remain to be fully elucidated. In this study, we have discovered that PRRSV inhibits the production of IFN-I by degrading TANK-binding kinase 1 (TBK1) through chaperon-mediated autophagy (CMA). From a mechanistic standpoint, PRRSV nonstructural protein 2 (Nsp2) increases the interaction between the heat shock protein member 8 (HSPA8) and TBK1. This interaction leads to the translocation of TBK1 into lysosomes for degradation, mediated by lysosomal-associated membrane protein 2A (LAMP2A). As a result, the downstream activation of IFN regulatory factor 3 (IRF3) and the production of IFN-I are hindered. Together, these results reveal a new mechanism by which PRRSV suppresses host innate immunity and contribute to the development of new antiviral strategies against the virus. [ABSTRACT FROM AUTHOR]

Peroxisome proliferator‐activated receptor gamma coactivator 1‐alpha (PGC‐1α) is a key regulator of mitochondrial biogenesis and antioxidative defenses, and it may play a critical role in Parkinson's disease (PD). F‐box/WD repeat domain‐containing protein (FBXW7), an E3 protein ligase, promotes the degradation of substrate proteins through the ubiquitin‐proteasome system (UPS) and leads to the clearance of PGC‐1α. Here, we elucidate a novel post‐translational mechanism for regulating PGC‐1α levels in neurons. We show that enhancing chaperone‐mediated autophagy (CMA) activity promotes the CMA‐mediated degradation of FBXW7 and consequently increases PGC‐1α. We confirm the relevance of this pathway in vivo by showing decreased FBXW7 and increased PGC‐1α as a result of boosting CMA selectively in dopaminergic (DA) neurons by overexpressing lysosomal‐associated membrane protein 2A (LAMP2A) in TH‐Cre‐LAMP2‐loxp conditional mice. We further demonstrate that these mice are protected against MPTP‐induced oxidative stress and neurodegeneration. These results highlight a novel regulatory pathway for PGC‐1α in DA neurons and suggest targeted increasing of CMA or decreasing FBXW7 in DA neurons as potential neuroprotective strategies in PD. [ABSTRACT FROM AUTHOR]

Objective The purpose of this study was to investigate the application value of Chromosomal microarray analysis (CMA) in prenatal diagnosis of nuchal translucency (NT) thickening and nasal bone dyscalcification. Methods The fetuses diagnosed with NT thickening and nasal bone dyscalcification at the Prenatal Diagnosis Center of Meizhou People's Hospital from September 2022 to April 2024, who underwent CMA and karyotype analysis were collected to analyze the relationship between NT thickening and nasal bone dyscalcification and chromosome abnormalities. The detection of chromosomal abnormalities in fetuses with NT thickening, nasal bone dyscalcification and the value of ultrasound combined with CMA in prenatal diagnosis were analyzed. Results In 75 fetuses with NT thickening and/or nasal bone dyscalcification, 11 cases of chromosome aneuploidy were detected by karyotype analysis, and 5 cases of pathogenic copy number variations (CNV) were detected by CMA, with an additional detection rate of 6.7%. The additional diagnosis rates of CMA were 6.0% and 5.0% in fetuses with simple NT thickening and nasal bone dyscalcification, respectively. Conclusion CMA technique is of high value in prenatal diagnosis of fetuses with NT thickening and nasal bone dyscalcification, it can improve the detection rate of fetal chromosomal abnormalities, and the combined application of multiple techniques can provide a more comprehensive evaluation of the fetuses. [ABSTRACT FROM AUTHOR]

Introduction: Invasive prenatal testing with chromosomal microarray analysis after first-trimester screening is a relevant option but there is still debate regarding the indications. Therefore, we evaluated the prevalence of numerical chromosomal aberrations detected by classic karyotype and clinically relevant copy number variants (CNVs) in prenatal samples using array comparative genomic hybridization (aCGH) stratified to NT thickness: 4.5 mm, and by the presence/absence of associated structural anomalies detected by ultrasonography. Materials and Methods: Retrospective cohort study carried out at two tertiary Polish centers for prenatal diagnosis (national healthcare system) in central and south regions from January 2018 to December 2021. A total of 1746 prenatal samples were received. Indications for invasive prenatal testing included high risk of Down syndrome in the first-trimester combined test (n = 1484) and advanced maternal age (n = 69), and, in 193 cases, other reasons, such as parental request, family history of congenital defects, and genetic mutation carrier, were given. DNA was extracted directly from amniotic fluid (n = 1582) cells and chorionic villus samples (n = 164), and examined with classic karyotype and aCGH. Results: Of the entire cohort of 1746 fetuses, classical karyotype revealed numerical chromosomal aberrations in 334 fetuses (19.1%), and aCGH detected CNV in 5% (n = 87). The frequency of numerical chromosomal aberrations increased with NT thickness from 5.9% for fetuses with NT < p95th to 43.3% for those with NT > 4.5 mm. The highest rate of numerical aberrations was observed in fetuses with NT > 4.5 mm having at least one structural anomaly (50.2%). CNVs stratified by NT thickness were detected in 2.9%, 2.9%, 3.5%, 4.3%, 12.2%, and 9.0% of fetuses with NT < 95th percentile, 95th percentile–2.9 mm, 3.0–3.4 mm, 3.5–3.9 mm, 4.0–4.5 mm, and >4.5 mm, respectively. After exclusion of fetuses with structural anomalies and numerical aberrations, aCGH revealed CNVs in 2.0% of fetuses with NT < 95th percentile, 1.5% with NTp95–2.9 mm, 1.3% with NT 3.0–3.4 mm, 5.4% with NT 3.5–3.9 mm, 19.0% with NT 4.0–4.5 mm, and 14.8% with NT > 4.5 mm. Conclusions: In conclusion, our study indicates that performing aCGH in samples referred to invasive prenatal testing after first-trimester screening provides additional clinically valuable information over conventional karyotyping, even in cases with normal NT and anatomy. [ABSTRACT FROM AUTHOR]

Five Phyllanthus species were characterized using a fluorochrome chromosome banding technique with CMA and DAPI. This genus displayed a range of somatic chromosomal counts, including 2n = 2x = 26 (diploid) in P. acidus, P. niruri, and P. reticulatus; 2n = 6x = 48 (hexaploid) in P. urinaria; and 2n = 10x = 100 (decaploid) in P. emblica (wild and cultivated varieties), which exhibited a multi-basic chromosome number. The centromeric and terminal regions of the chromosomes contained most of the CMA and DAPI bands, indicating that GC- and AT-rich repeats had accumulated in these locations. The diversity based on the heterochromatin distribution patterns made it possible to use the CMA and DAPI banding approaches to analyze and characterize these five Phyllanthus species. [ABSTRACT FROM AUTHOR]

Abstract Porcine reproductive and respiratory syndrome virus (PRRSV) has led to significant economic losses in the global swine industry. Type I interferon (IFN-I) plays a crucial role in the host’s resistance to PRRSV infection. Despite extensive research showing that PRRSV employs multiple strategies to antagonise IFN-I induction, the underlying mechanisms remain to be fully elucidated. In this study, we have discovered that PRRSV inhibits the production of IFN-I by degrading TANK-binding kinase 1 (TBK1) through chaperon-mediated autophagy (CMA). From a mechanistic standpoint, PRRSV nonstructural protein 2 (Nsp2) increases the interaction between the heat shock protein member 8 (HSPA8) and TBK1. This interaction leads to the translocation of TBK1 into lysosomes for degradation, mediated by lysosomal-associated membrane protein 2A (LAMP2A). As a result, the downstream activation of IFN regulatory factor 3 (IRF3) and the production of IFN-I are hindered. Together, these results reveal a new mechanism by which PRRSV suppresses host innate immunity and contribute to the development of new antiviral strategies against the virus.

Various soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy progress. There are different tools to detect chromosomal abnormalities like conventional karyotyping, chromosomal microarray analysis (CMA), single nucleotide polymorphism (SNP) array, non-invasive prenatal test (NIPT), and non-invasive prenatal screening (NIPS). Therefore, in the present study, we aim to assess the accuracy of ultrasonic soft markers in the diagnosis of chromosomal abnormalities such as chromosomal structural abnormalities, aneuploidy, and triploidy, especially Trisomy 21 and Trisomy 18. A systemic literature search was performed using PubMed, Scopus, Google Scholar, and Web of Science. We gathered all articles published before August 2023. We selected English studies such as retrospective and cross-sectional ones that assessed the relationship between ultrasonic soft markers and foetal chromosomal abnormalities. A total of 10 articles with 18,580 cases were included in our systematic review article that assessed the foetal abnormalities and aneuploidies by using conventional karyotyping, SNP array, CMA, and NIPT (or NIPS). Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common abnormalities related to ultrasonic soft markers by karyotyping; however, Trisomy 13, 47, XXY, 45, X, and mosaic chromosomal abnormalities were other abnormalities detected. Results by CMA showed Trisomy 21 and Trisomy 18 as the most common abnormalities in the foetuses also with ultrasonic soft markers, and other abnormalities were pathogenic copy-number variations, Turner (XO), polyploidy, 22q11.2deletion, and Trisomy13, respectively. It was discovered that there is a greater possibility of having pathogenic copy number variations (CNVs) in the groups with multiple ultrasonic soft markers, while foetuses with ultrasonic soft markers have a decreased prevalence of CMA abnormality compared to those who had significant abnormalities or abnormal nuchal translucency. Trisomy 21 was the only abnormality found by NIPT in the groups with 1 and 2 soft markers, while groups with multiple soft markers were all normal. By using SNP array, it was identified that the rate of chromosomal abnormalities such as aneuploidy and triploidy, LOH, and CNVs was lower in the group with a single ultrasonic soft marker compared to the group with structural abnormalities in multiple systems. Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common chromosomal abnormalities that ultrasound soft markers could diagnose. Therefore, it is recommended to employ soft markers besides CMA, SNP array, and NIPS (or NIPT) for greater accuracy in detecting foetus abnormalities.

The NLRP3 inflammasome is a multiprotein complex that plays a vital role in the innate immune system in response to microbial infections and endogenous danger signals. Aberrant activation of the NLRP3 inflammasome is implicated in a spectrum of inflammatory and autoimmune diseases, emphasizing the necessity for precise regulation of the NLRP3 inflammasome to maintain immune homeostasis. The protein level of NLRP3 is a limiting step for inflammasome activation, which must be tightly controlled to avoid detrimental consequences. Here, we demonstrate that ABHD8, a member of the α/β-hydrolase domain-containing (ABHD) family, interacts with NLRP3 and promotes its degradation through the chaperone-mediated autophagy (CMA) pathway. ABHD8 acts as a scaffold to recruit palmitoyltransferase ZDHHC12 to NLRP3 for its palmitoylation as well as subsequent CMA-mediated degradation. Notably, ABHD8 deficiency results in the stabilization of NLRP3 protein and promotes NLRP3 inflammasome activation. We further confirm that ABHD8 overexpression ameliorates LPS- or alum-triggered NLRP3 inflammasome activation in vivo. Interestingly, the nucleocapsid (N) protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) impairs the ABHD8-NLRP3 association, resulting in an elevation in NLRP3 protein level and excessive inflammasome activation. These findings demonstrate that ABHD8 May represent a potential therapeutic target in conditions associated with NLRP3 inflammasome dysregulation.Abbreviations: 3-MA: 3-methyladenine; ABHD: α/β-hydrolase domain-containing; BMDMs: Bone marrow-derived macrophages; CFZ: carfilzomib; CHX: cycloheximide; CMA: chaperone-mediated autophagy; CQ: chloroquine; DAMPs: danger/damage-associated molecular patterns; HSPA8/HSC70: heat shock protein family A (Hsp70) member 8; LAMP2A: lysosomal associated membrane protein 2A; NH4Cl: ammonium chloride; NLRP3: NLR family pyrin domain containing 3; PAMPs: pathogen-associated molecular patterns; SARS-CoV-2: severe acute respiratory syndrome coronavirus 2. [ABSTRACT FROM AUTHOR]

In this work, a novel cavity backed leaf-shaped bowtie antenna is designed using Characteristic Mode Analysis (CMA). An analytical expression is proposed to arrive at the leaf shape of the bowtie antenna using optimization process. The developed antenna is backed by a square-cavity to get unidirectional radiation pattern with high gain and good front-to-back-ratio characteristics. CMA technique is used in the design and optimization of the cavity structure and generalized design equation is proposed to design the cavity for getting good impedance bandwidth and broadside radiation characteristics in the Desired Band of Interest (DBI). The developed antenna resonates from 0.8 to 4.3 GHz with stable and unidirectional radiation characteristics giving maximum gain and FBR of 11.5 dBi and 15.2 dB respectively, making it suitable for Ground Penetrating Radar (GPR) applications. [ABSTRACT FROM AUTHOR]

The inhibition of the unfolded protein response (UPR), which usually protects cancer cells from stress, may be exploited to potentiate the cytotoxic effect of drugs inducing ER stress. However, in this study, we found that ER stress and UPR activation by thapsigargin or tunicamycin promoted the lysosomal degradation of mutant (MUT) TP53 and that the inhibition of the UPR sensor ATF6, but not of ERN1/IRE1 or EIF2AK3/PERK, counteracted such an effect. ATF6 activation was indeed required to sustain the function of lysosomes, enabling the execution of chaperone-mediated autophagy (CMA) as well as of macroautophagy, processes involved in the degradation of MUT TP53 in stressed cancer cells. At the molecular level, by pharmacological and genetic approaches, we demonstrated that the inhibition of ATF6 correlated with the activation of MTOR and with TFEB and LAMP1 downregulation in thapsigargin-treated MUT TP53 carrying cells. We hypothesize that the rescue of MUT TP53 expression by ATF6 inhibition, could further activate MTOR and maintain lysosomal dysfunction, further inhibiting MUT TP53 degradation, in a vicious circle. The findings of this study suggest that the presence of MUT TP53, which often exerts oncogenic properties, should be considered before approaching treatments combining ER stressors with ATF6 inhibitors against cancer cells, while it could represent a promising strategy against cancer cells that harbor WT TP53. [ABSTRACT FROM AUTHOR]

Background: The clinical features of Turner syndrome (TS) involve multiple organ system dysplasia, among which growth retardation and gonadal dysplasia are the most important clinical phenotypes. Methods: G banding karyotype analysis, chromosome microarray (CMA), and fluorescence in situ hybridization (FISH) were used for prenatal diagnosis of fetal chromosomes. Results: The result of fetal chromosome karyotype analysis was 46,XX. CMA showed arr[GRCh38]Xp22.33 p22.13(251888_18176046)x1,Xq27.1q28(140998347_156003433)x3. FISH indicated that the short arm end fragment of X chromosome was monomer and the long arm end fragment was trisomy. Conclusions: The fetal chromosome karyotype was normal, but CMA indicated that there was deletion and duplication of X chromosome. FISH verified the CMA results, locating the deletion and duplication fragments. CMA and FISH make up for the shortcomings of chromosome karyotype analysis technique. It is suggested that multiple detection methods should be applied in genetic prenatal diagnosis [ABSTRACT FROM AUTHOR]

This paper proposes a new cloud-shaped fractal patch antenna with compact dimensions of 15 mm × 15 mm (0.85 g × 0.85 g) that will help achieve a wide bandwidth of up to 11.3 GHz. Here, g represents the operating wavelength specified at the lower frequency (9.01 GHz) of the obtained band. Additionally, the lower frequency (Lf) variability within the obtained band is estimated using the characteristic mode analysis (CMA) technique at each iteration of the proposed fractal antenna. The simulated design demonstrates its potential application in the X, Ku, and K bands, making it suitable for various applications, including satellite communication and military use. The antenna employs Kapton polyimide as the substrate, with a dielectric constant of 3.5 and a thickness of 0.11 mm. The simulated-10 dB antenna exhibits peak gains of 4 dBi and 5 dBi. The radiation pattern and antenna efficiency are also analysed. All simulations are conducted using the FEKO simulator software. The antenna is fabricated and measured for verification, with the experimental results showing a satisfactory agreement with the simulation. [ABSTRACT FROM AUTHOR]

Abstract Background Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aimed to investigate the application efficiency of NIPT for detecting chromosomal microduplications. Methods Four cases of copy number gains on the long arm of chromosome 17 (17q12) were detected using NIPT and further confirmed using copy number variation (CNV) analysis based on chromosome microarray analysis (CMA). Results The prenatal diagnosis CMA results of the three cases showed that the microduplications in 17q12 (ranging from 1.5 to 1.9 Mb) were consistent with the NIPT results. The karyotypic analysis excluded other possible unbalanced rearrangements. The positive predictive value of NIPT for detecting chromosomal 17q12 microduplication was 75.0%. Conclusions NIPT has a good screening effect on 17q12 syndrome through prenatal diagnosis, therefore it could be considered for screening fetal CNV during the second trimester. With the clinical application of NIPT, invasive prenatal diagnoses could be effectively reduced while also improving the detection rate of fetal CNV.

A multi-band antenna design by surface current reshaping of higher-order modes is presented. This method utilizes characteristic mode analysis to modify the conventional circular patch antenna in accordance with the surface current distribution of higher-order modes at the L5, S, and L1 bands using CMA. The antenna is evaluated up to four modes inducing fundamental mode. The S and L1 bands are obtained by exciting reshaped higher-order modes, while the L5 lower band is obtained by exciting the fundamental mode using full-wave analysis with 50 Ω coaxial feed. The measurement results are very similar to simulated antenna results. The measured operating frequencies of the proposed antenna are 1177.00 MHz (L5-band), 1575.00 (L1-band) MHz, and 2497.50 (S-band) MHz with associated impedance bandwidth (S11 ≤ −10 dB) are 25.30 MHz (1164.40–1189.70 MHz), 65.30 MHz (1535.50–1600.80 MHz), and 48.60 MHz (2464.10–2512.70 MHz) having desired gain with hemispherical radiation characteristics. These bands are used in Global Positioning Services (GPS) and in Indian Regional Navigation Satellite System (IRNSS) applications. [ABSTRACT FROM AUTHOR]

In this paper, a patch array antenna with wideband circular polarization and high gain is proposed by utilizing a hybrid metasurface (MS). A corner-cut slotted patch antenna was chosen as the source due to the possible generation of CP mode. The hybrid MS (HMS), consisting of a receiver MS (RMS) arranged in a 2 × 2 array of squared patches and a linear-to-circular polarization conversion (LCPC) MS surrounding it was then utilized as the superstrate driven by the source. The LCPC MS cell is a squared-corner-cut patch with a 45° oblique slot etched, which has the capability for wideband LCPC. The LCPC unit cell possesses wideband PC capabilities, as demonstrated by the surface current analysis and S-parameter simulations conducted using a Floquet–port setup. The LP EM wave radiated by the source antenna was initially received by the RMS, then converted to a CP wave as it passed through the LCPC MS, and ultimately propagated into space. To further enhance the LCPC properties, an improved HMS (IHMS) was then proposed with four cells cut at the corners, based on the original HMS design. To verify this design, both CMA and E-field were utilized to analyze the three MSs, indicating that the IHMS possessed a wideband LCPC capability compared to the other two MSs. The proposed antenna was then arranged in a 2 × 2 array with sequential rotation to further enhance its properties. As demonstrated by the measurements, the array antenna achieved an S11 bandwidth of 60.5%, a 3 dB AR bandwidth of 2.85 GHz, and a peak gain of 15.1 dBic, all while maintaining a low profile of only 0.09λ0. [ABSTRACT FROM AUTHOR]

Model correlation techniques are methods used to compare two different models, usually a numerical model and an experimental model. According to the structural dynamic modification theory, the experimental mode shapes estimated by modal analysis can be expressed as a linear combination of the numerical mode shapes through a transformation matrix T . In this paper, matrix T is proposed as a novel model correlation technique to detect discrepancies between the numerical and the experimental models in terms of mass. The discrepancies in stiffness can be identified by combining the numerical natural frequencies and the matrix T . This methodology can be applied to correlate the numerical and experimental results of civil (bridges, dams, towers, buildings, etc.), aerospace and mechanical structures and to detect damage when using structural health monitoring techniques. The technique was validated by numerical simulations on a lab-scaled two-span bridge considering different degradation scenarios and experimentally on a lab-scaled structure, which was correlated with two numerical models. [ABSTRACT FROM AUTHOR]

Multiple regulatory mechanisms are in place to ensure the normal processes of bone metabolism, encompassing both bone formation and absorption. This study has identified chaperone‐mediated autophagy (CMA) as a critical regulator that safeguards bone formation from the detrimental effects of excessive inflammation. By silencing LAMP2A or HSCA8, we observed a hindrance in the osteoblast differentiation of human bone marrow mesenchymal stem cells (hBMSCs) in vitro. To further elucidate the role of LAMP2A, we generated LAMP2A gene knockdown and overexpression of mouse BMSCs (mBMSCs) using adenovirus. Our results showed that LAMP2A knockdown led to a decrease in osteogenic‐specific proteins, while LAMP2A overexpression favored the osteogenesis of mBMSCs. Notably, active‐β‐catenin levels were upregulated by LAMP2A overexpression. Furthermore, we found that LAMP2A overexpression effectively protected the osteogenesis of mBMSCs from TNF‐α, through the PI3K/AKT/GSK3β/β‐catenin pathway. Additionally, LAMP2A overexpression significantly inhibited osteoclast hyperactivity induced by TNF‐α. Finally, in a murine bone defect model, we demonstrated that controlled release of LAMP2A overexpression adenovirus by alginate sodium capsule efficiently protected bone healing from inflammation, as confirmed by imaging and histological analyses. Collectively, our findings suggest that enhancing CMA has the potential to safeguard bone formation while mitigating hyperactivity in bone absorption. [ABSTRACT FROM AUTHOR]

One of the most frequent triggers of food anaphylaxis in pediatric age but also among the most common, early, and complex causes of childhood food allergy is cow's milk protein allergy (CMPA). The diagnostic course and management of this allergy is defined in a complex clinical picture due to several factors. First of all, the epidemiological data are not uniform, mainly as a consequence of the diagnostic methodology used in the various studies and the different age ranges covered. In addition, there is the complexity of terminology, since although CMPA traditionally refers to immune-mediated reactions to cow's milk, it is a term encompassing numerous clinical features with different symptoms and the requirement for specific treatments. Moreover, the differential diagnosis with other very frequent diseases, especially in the first year of life, such as gastro-esophageal reflux disease or colic, is still complex. This can result in misdiagnosis and incorrect treatment, with harmful health consequences and significant economic repercussions. In this context, the combination of several omics sciences together, which have already proved useful in clarifying the allergenicity of cow's milk proteins with greater precision, could improve the diagnostic tests currently in use through the identification of new, more specific, and precise biomarkers that make it possible to improve diagnostic accuracy and predict the patient's response to the various available treatments for the recovery of tolerance. [ABSTRACT FROM AUTHOR]

Background: Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aimed to investigate the application efficiency of NIPT for detecting chromosomal microduplications. Methods: Four cases of copy number gains on the long arm of chromosome 17 (17q12) were detected using NIPT and further confirmed using copy number variation (CNV) analysis based on chromosome microarray analysis (CMA). Results: The prenatal diagnosis CMA results of the three cases showed that the microduplications in 17q12 (ranging from 1.5 to 1.9 Mb) were consistent with the NIPT results. The karyotypic analysis excluded other possible unbalanced rearrangements. The positive predictive value of NIPT for detecting chromosomal 17q12 microduplication was 75.0%. Conclusions: NIPT has a good screening effect on 17q12 syndrome through prenatal diagnosis, therefore it could be considered for screening fetal CNV during the second trimester. With the clinical application of NIPT, invasive prenatal diagnoses could be effectively reduced while also improving the detection rate of fetal CNV. [ABSTRACT FROM AUTHOR]

Various soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy progress. There are different tools to detect chromosomal abnormalities like conventional karyotyping, chromosomal microarray analysis (CMA), single nucleotide polymorphism (SNP) array, non-invasive prenatal test (NIPT), and non-invasive prenatal screening (NIPS). Therefore, in the present study, we aim to assess the accuracy of ultrasonic soft markers in the diagnosis of chromosomal abnormalities such as chromosomal structural abnormalities, aneuploidy, and triploidy, especially Trisomy 21 and Trisomy 18. A systemic literature search was performed using PubMed, Scopus, Google Scholar, and Web of Science. We gathered all articles published before August 2023. We selected English studies such as retrospective and cross-sectional ones that assessed the relationship between ultrasonic soft markers and foetal chromosomal abnormalities. A total of 10 articles with 18,580 cases were included in our systematic review article that assessed the foetal abnormalities and aneuploidies by using conventional karyotyping, SNP array, CMA, and NIPT (or NIPS). Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common abnormalities related to ultrasonic soft markers by karyotyping; however, Trisomy 13, 47, XXY, 45, X, and mosaic chromosomal abnormalities were other abnormalities detected. Results by CMA showed Trisomy 21 and Trisomy 18 as the most common abnormalities in the foetuses also with ultrasonic soft markers, and other abnormalities were pathogenic copy-number variations, Turner (XO), polyploidy, 22q11.2deletion, and Trisomy13, respectively. It was discovered that there is a greater possibility of having pathogenic copy number variations (CNVs) in the groups with multiple ultrasonic soft markers, while foetuses with ultrasonic soft markers have a decreased prevalence of CMA abnormality compared to those who had significant abnormalities or abnormal nuchal translucency. Trisomy 21 was the only abnormality found by NIPT in the groups with 1 and 2 soft markers, while groups with multiple soft markers were all normal. By using SNP array, it was identified that the rate of chromosomal abnormalities such as aneuploidy and triploidy, LOH, and CNVs was lower in the group with a single ultrasonic soft marker compared to the group with structural abnormalities in multiple systems. Trisomy 21, Trisomy 18, and chromosomal structural abnormalities were the most common chromosomal abnormalities that ultrasound soft markers could diagnose. Therefore, it is recommended to employ soft markers besides CMA, SNP array, and NIPS (or NIPT) for greater accuracy in detecting foetus abnormalities. [ABSTRACT FROM AUTHOR]

Chaperone-mediated autophagy (CMA) is a major pathway of lysosomal proteolysis critical for cellular homeostasis and metabolism, and whose defects have been associated with several human pathologies. While CMA has been well described in mammals, functional evidence has only recently been documented in fish, opening up new perspectives to tackle this function under a novel angle. Now we propose to explore CMA functions in the rainbow trout (RT, Oncorhynchus mykiss), a fish species recognized as a model organism of glucose intolerance and characterized by the presence of two paralogs of the CMA-limiting factor Lamp2A (lysosomal associated membrane protein 2A). To this end, we validated a fluorescent reporter (KFERQ-PA-mCherry1) previously used to track functional CMA in mammalian cells, in an RT hepatoma-derived cell line (RTH-149). We found that incubation of cells with high-glucose levels (HG, 25 mM) induced translocation of the CMA reporter to lysosomes and/or late endosomes in a KFERQ- and Lamp2A-dependent manner, as well as reduced its half-life compared to the control (5 mM), thus demonstrating increased CMA flux. Furthermore, we observed that activation of CMA upon HG exposure was mediated by generation of mitochondrial reactive oxygen species, and involving the antioxidant transcription factor Nfe2l2/Nrf2 (nfe2 like bZIP transcription factor 2). Finally, we demonstrated that CMA plays an important protective role against HG-induced stress, primarily mediated by one of the two RT Lamp2As. Together, our results provide unequivocal evidence for CMA activity existence in RT and highlight both the role and regulation of CMA during glucose-related metabolic disorders. Abbreviations: AREs: antioxidant response elements; CHC: α-cyano -4-hydroxycinnamic acid; Chr: chromosome; CMA: chaperone-mediated autophagy; CT: control; DMF: dimethyl fumarate; Emi: endosomal microautophagy; HG: high-glucose; HMOX1: heme oxygenase 1; H2O2: hydrogen peroxide; KFERQ: lysine-phenylalanine-glutamate-arginine-glutamine; LAMP1: lysosomal associated membrane protein 1; LAMP2A: lysosomal associated membrane protein 2A; MCC: Manders' correlation coefficient; Manders' correlation coefficient Mo: morpholino oligonucleotide; NAC: N-acetyl cysteine; NFE2L2/NRF2: NFE2 like bZIP transcription factor 2; PA-mCherry: photoactivable mCherry; PCC: Pearson's correlation coefficient; ROS: reactive oxygen species; RT: rainbow trout; siRNAs: small interfering RNAs; SOD: superoxide dismutase; Tsg101: tumor susceptibility 101; TTFA: 2-thenoyltrifluoroacetone; WGD: whole-genome duplication. [ABSTRACT FROM AUTHOR]

The rapid augmentation of wearable technology and IoT contributes to a substantial consideration in the design and development of flexible sensor antennas. These types of antennas could detect variations in the signal even when the antenna is deformed when placed over the body for wearable sensing applications. This paper proposes a highly flexible CPW-fed antenna for 5G wearable sensor applications. Holding an overall dimension of 40 × 30 × 0.1 mm3, the antenna covers a measured impedance bandwidth of 4.57–5.50 GHz with a peak gain of 3.8 dBi. The design optimization of the proposed antenna is investigated using the characteristic mode analysis (CMA) which provides a clear insight into the physical performance and radiation characteristics of the antenna. Bending analysis of the antenna is performed for various bending radius along x and y axis, and the antenna gives a satisfactory bending profile. The favourable SAR value as well as the on-body analysis of the antenna demonstrate the application possibilities of the proposed antenna for wireless wearable sensing applications.

Abstract Chromosomal Microarray Analysis (CMA) has increased the comprehension of the mechanisms of copy number variation (CNV) formation, classification of these rearrangements, type of recurrence, and its origin, and has also been a powerful approach to identifying CNVs in individuals with intellectual disability. The aim of this study was to establish the parental origin of de novo pathogenic CNV in a cohort of patients with intellectual disability from the public health system of Goiás-Brazil. CMA was done in 76 trios and we identified 15 de novo pathogenic CNVs in 12 patients with intellectual disability. In a total of 15 de novo pathogenic CNV, 60% were derived from the maternal germline and 40% from the paternal germline. CNV flanked by low copy repeats (LCR) were identified in 46.7% and most of them were of maternal origin. No significant association was observed between paternal age and the mutation rate of de novo CNVs. The presence of high-identity LCRs increases the occurrence of CNV formation mediated by non-allelic homologous recombination and the majority of paternal CNVs are non-recurrent. The mechanism of formation of these CNV may have been by microhomology-mediated break-induced replication or non-homologous end joining.

ABSTRACT Autophagy is an important biological process in host defense against viral infection. However, many viruses have evolved various strategies to disrupt the host antiviral system. Porcine reproductive and respiratory syndrome virus (PRRSV) is a typical immunosuppressive virus with a large economic impact on the swine industry. At present, studies on the escape mechanism of PRRSV in the autophagy process, especially through chaperone-mediated autophagy (CMA), are limited. This study confirmed that PRRSV glycoprotein 5 (GP5) could disrupt the formation of the GFAP-LAMP2A complex by inhibiting the MTORC2/PHLPP1/GFAP pathway, promoting the dissociation of the pGFAP-EF1α complex, and blocking the K63-linked polyubiquitination of LAMP2A to inhibit the activity of CMA. Further research demonstrated that CMA plays an anti-PRRSV role by antagonizing nonstructural protein 11 (NSP11)-mediated inhibition of type I interferon (IFN-I) signaling. Taken together, these results indicate that PRRSV GP5 inhibits the antiviral effect of CMA by targeting LAMP2A. This research provides new insight into the escape mechanism of immunosuppressive viruses in CMA.IMPORTANCEViruses have evolved sophisticated mechanisms to manipulate autophagy to evade degradation and immune responses. Porcine reproductive and respiratory syndrome virus (PRRSV) is a typical immunosuppressive virus that causes enormous economic losses in the swine industry. However, the mechanism by which PRRSV manipulates autophagy to defend against host antiviral effects remains unclear. In this study, we found that PRRSV GP5 interacts with LAMP2A and disrupts the formation of the GFAP-LAMP2A complex, thus inhibiting the activity of CMA and subsequently enhancing the inhibitory effect of the NSP11-mediated IFN-I signaling pathway, ultimately facilitating PRRSV replication. Our study revealed a novel mechanism by which PRRSV escapes host antiviral effects through CMA, providing a potential host target, LAMP2A, for developing antiviral drugs and contributing to understanding the escape mechanism of immunosuppressive viruses.

Abstract Background β-Propeller protein-associated neurodegeneration (BPAN) is a genetic neurodegenerative disease caused by mutations in WDR45. The impairment of autophagy caused by WDR45 deficiency contributes to the pathogenesis of BPAN; however, the pathomechanism of this disease is largely unknown. Lipid dyshomeostasis is involved in neurogenerative diseases, but whether lipid metabolism is affected by Wdr45 deficiency and whether lipid dyshomeostasis contributes to the progression of BPAN are unclear. Methods We generated Wdr45 knockout SN4741 cell lines using CRISPR‒Cas9-mediated genome editing, then lipid droplets (LDs) were stained using BODIPY 493/503. Chaperone-mediated autophagy was determined by RT-qPCR and western blotting. The expression of fatty acid synthase (Fasn) was detected by western blot in the presence or absence of the lysosomal inhibitor NH4Cl and the CMA activator AR7. The interaction between Fasn and HSC70 was analyzed using coimmunoprecipitation (Co-IP) assay. Cell viability was measured by a CCK-8 kit after treatment with the Fasn inhibitor C75 or the CMA activator AR7. Results Deletion of Wdr45 impaired chaperone-mediated autophagy (CMA), thus leading to lipid droplet (LD) accumulation. Moreover, Fasn can be degraded via CMA, and that defective CMA leads to elevated Fasn, which promotes LD formation. LD accumulation is toxic to cells; however, cell viability was not rescued by Fasn inhibition or CMA activation. Inhibition of Fasn with a low concentration of C75 did not affect cell viability but decreases LD density. Conclusions These results suggested that Fasn is essential for cell survival but that excessive Fasn leads to LD accumulation in Wdr45 knockout cells.

Abstract Chaperone‐mediated autophagy (CMA) is a lysosome‐dependent degradation pathway that eliminates proteins that are damaged, partially unfolded, or targeted for selective proteome remodeling. CMA contributes to several cellular processes, including stress response and proteostasis. Age‐associated increase in cellular stressors and decrease in CMA contribute to pathologies associated with aging in various tissues. CMA contributes to bone homeostasis in young mice. An age‐associated reduction in CMA was reported in osteoblast lineage cells; however, whether declining CMA contributes to skeletal aging is unknown. Herein we show that cellular stressors stimulate CMA in UAMS‐32 osteoblastic cells. Moreover, the knockdown of an essential component of the CMA pathway, LAMP2A, sensitizes osteoblasts to cell death caused by DNA damage, ER stress, and oxidative stress. As elevations in these stressors are thought to contribute to age‐related bone loss, we hypothesized that declining CMA contributes to the age‐associated decline in bone formation by sensitizing osteoblast lineage cells to elevated stressors. To test this, we aged male CMA‐deficient mice and controls up to 24 months of age and examined age‐associated changes in bone mass and architecture. We showed that lack of CMA did not alter age‐associated decline in bone mineral density as measured by dual x‐ray absorptiometry (DXA). Moreover, microCT analysis performed at 24 months of age showed that vertebral cancellous bone volume, cortical thickness, and porosity of CMA‐deficient and control mice were similar. Taken together, these results suggest that reduction of CMA does not contribute to age‐related bone loss.

This paper presents a stepped electromagnetic bandgap(EBG) hosted on the T-shaped stepped stub with an inverted H-shaped slot etched on the ground to enhance bandwidth and improve isolation for a compact UWB-MIMO antenna developed from our previous design. The characteristic mode analysis is used to offer physical insight into the operation phenomena taking place in the evolution of antenna. The proposed antenna has a compact size of $27\times 22\times 0.8$ mm and realize bandwidth from 3.07 GHz to 11.1 GHz, keeping the isolation more than 20 dB. Key parameters evaluating the antenna performance like radiation pattern, gain, radiation efficiency above 75% and envelope correlation coefficient below 0.05 are investigated. The simulated and measured results agree well, testifying the proposed MIMO antenna is a suitable candidate for UWB applications.

Background: Mycobacterium kansasii infection is one of the most common causes of non-tuberculosis mycobacterial (NTM) disease worldwide. However, accurate information on the global prevalence of this bacterium is lacking. Therefore, this study was conducted to investigate the prevalence of M. kansasii in clinical and environmental isolates. Methods: Databases, including PubMed, Scopus, and the Web of Science, were utilized to gather articles on the prevalence of M. kansasii in clinical and environmental isolates. The collected data were analyzed using Comprehensive Meta-Analysis software. Results: A total of 118 and 16 studies met the inclusion criteria and were used to analyze the prevalence of M. kansasii in clinical and environmental isolates, respectively. The prevalence of M. kansasii in NTM and environmental isolates were 9.4 and 5.8%, respectively. Subsequent analysis showed an increasing prevalence of M. kansasii over the years. Additionally, the results indicated a significant difference in the prevalence of this bacteria among different regions. Conclusion: The relatively high prevalence of M. kansasii among NTM isolates suggests the need for further implementation of infection control strategies. It is also important to establish appropriate diagnostic criteria and management guidelines for screening this microorganism in environmental samples in order to prevent its spread, given its high prevalence in environmental isolates. [ABSTRACT FROM AUTHOR]

Chaperone‐mediated autophagy (CMA) is a lysosome‐dependent degradation pathway that eliminates proteins that are damaged, partially unfolded, or targeted for selective proteome remodeling. CMA contributes to several cellular processes, including stress response and proteostasis. Age‐associated increase in cellular stressors and decrease in CMA contribute to pathologies associated with aging in various tissues. CMA contributes to bone homeostasis in young mice. An age‐associated reduction in CMA was reported in osteoblast lineage cells; however, whether declining CMA contributes to skeletal aging is unknown. Herein we show that cellular stressors stimulate CMA in UAMS‐32 osteoblastic cells. Moreover, the knockdown of an essential component of the CMA pathway, LAMP2A, sensitizes osteoblasts to cell death caused by DNA damage, ER stress, and oxidative stress. As elevations in these stressors are thought to contribute to age‐related bone loss, we hypothesized that declining CMA contributes to the age‐associated decline in bone formation by sensitizing osteoblast lineage cells to elevated stressors. To test this, we aged male CMA‐deficient mice and controls up to 24 months of age and examined age‐associated changes in bone mass and architecture. We showed that lack of CMA did not alter age‐associated decline in bone mineral density as measured by dual x‐ray absorptiometry (DXA). Moreover, microCT analysis performed at 24 months of age showed that vertebral cancellous bone volume, cortical thickness, and porosity of CMA‐deficient and control mice were similar. Taken together, these results suggest that reduction of CMA does not contribute to age‐related bone loss. [ABSTRACT FROM AUTHOR]

Broadband antennas with a low-profile generating circular polarization are always in demand for handheld/ portable devices as CP antennas counter multipath and misalignment issues. Therefore, a compact millimeter-wave antenna is proposed in this article. The proposed antenna structure comprises two circular rings and a circular patch at the center. This structure is further embedded with four equilateral triangles at a 90° orientation. The current entering the radiator is divided into left and right circular directions. The equilateral triangles provide the return path for current at the differential phase of ±90°, generating circular polarization. Structural development and analysis were initially performed through the characteristic mode theory. It showed that Modes 1 to 4 generated good impedance matching from 20 to 30 GHz and Modes 1 to 5, from 30 to 40 GHz. It also demonstrated the summation of orthogonal modes leading to circular polarization. The antenna-measured reflection coefficient |S11| > 10 dB was 19 GHz (23–42 GHz), and the axial ratio at −3 dB was 4.2 GHz (36–40.2 GHz). The antenna gain ranged from 4 to 6.2 dBi. The proposed antenna was tested for link margin estimation for IoT indoor conditions with line-of-sight (LOS) and non-line-of-sight (NLOS) conditions. The communication reliability with co- and cross-polarization was also studied under these conditions, and the results proved to be satisfactory. [ABSTRACT FROM AUTHOR]

Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review genes and CNV syndromes associated with microcephaly. We performed chromosomal microarray analysis (CMA) in 185 Brazilian patients with microcephaly and evaluated microcephalic patients carrying < 200 kb CNVs documented in the DECIPHER database. Additionally, we reviewed known genes and CNV syndromes causally linked to microcephaly through the PubMed, OMIM, DECIPHER, and ClinGen databases. Rare clinically relevant CNVs were detected in 39 out of the 185 Brazilian patients investigated by CMA (21%). In 31 among the 60 DECIPHER patients carrying < 200 kb CNVs, at least one known microcephaly gene was observed. Overall, four gene sets implicated in microcephaly were disclosed: known microcephaly genes; genes with supporting evidence of association with microcephaly; known macrocephaly genes; and novel candidates, including OTUD7A, BBC3, CNTN6, and NAA15. In the review, we compiled 957 known microcephaly genes and 58 genomic CNV loci, comprising 13 duplications and 50 deletions, which have already been associated with clinical findings including microcephaly. We reviewed genes and CNV syndromes previously associated with microcephaly, reinforced the high CMA diagnostic yield for this condition, pinpointed novel candidate loci linked to microcephaly deserving further evaluation, and provided a useful resource for future research on the field of neurodevelopment. [ABSTRACT FROM AUTHOR]

Chromosome analysis (CA) and chromosomal microarray analysis (CMA) have been successfully used to diagnose genetic disorders. However, many conditions remain undiagnosed due to limitations in resolution (CA) and detection of only unbalanced events (CMA). Optical genome mapping (OGM) has the potential to address these limitations by capturing both structural variants (SVs) resulting in copy number changes and balanced rearrangements with high resolution. In this study, we investigated OGM's concordance using 87 SVs previously identified by CA, CMA, or Southern blot. Overall, OGM was 98% concordant with only three discordant cases: (1) uncalled translocation with one breakpoint in a centromere; (2) uncalled duplication with breakpoints in the pseudoautosomal region 1; and (3) uncalled mosaic triplication originating from a marker chromosome. OGM provided diagnosis for three previously unsolved cases: (1) disruption of the SON gene due to a balanced reciprocal translocation; (2) disruption of the NBEA gene due to an inverted insertion; (3) disruption of the TSC2 gene due to a mosaic deletion. We show that OGM is a valid method for the detection of many types of SVs in a single assay and is highly concordant with legacy cytogenomic methods; however, it has limited SV detection capabilities in centromeric and pseudoautosomal regions. [ABSTRACT FROM AUTHOR]

Food-protein-induced allergic proctocolitis (FPIAP) is an increasingly reported transient and benign form of colitis that occurs commonly in the first weeks of life in healthy breastfed or formula-fed infants. Distal colon mucosal inflammation is caused by a non-IgE immune reaction to food allergens, more commonly to cow's milk protein. Rectal bleeding possibly associated with mucus and loose stools is the clinical hallmark of FPIAP. To date, no specific biomarker is available, and investigations are reserved for severe cases. Disappearance of blood in the stool may occur within days or weeks from starting the maternal or infant elimination diet, and tolerance to the food allergen is typically acquired before one year of life in most patients. In some infants, no relapse of bleeding occurs when the presumed offending food is reassumed after a few weeks of the elimination diet. Many guidelines and expert consensus on cow's milk allergy have recently been published. However, the role of diet is still debated, and recommendations on the appropriateness and duration of allergen elimination in FPIAP are heterogeneous. This review summarizes and compares the different proposed nutritional management of infants suffering from FPIAP, highlighting the pros and cons according to the most recent literature data. [ABSTRACT FROM AUTHOR]

The millimeter wave spectrum fulfills the demand for higher data rates with low latency. Moreover, futuristic wearable gadgets demand flexible antennas operating at these frequencies, such that they can easily be accommodated. Therefore, the article focuses on designing a compact and highly flexible antenna with the aid of characteristic mode analysis (CMA). A thin polyimide substrate of 0.1 mm thickness is used to maintain flexibility. The overall antenna profile is 0.61 λ 0 × 0.61 λ 0 . The design evolves through four stages, where, in each stage, the solution to the surface current through eigenvalue leads to significant modes. The final stage design generated Mode 2 fundamental mode at 30.5 GHz along with contributing Modes 3 and 5 with a bandwidth range of 28-31.5 GHz. Further, the design is simulated using electromagnetic simulation software, and the prototype is fabricated. The simulated and measured reflection coefficient |S11| > 10 dB in 28.72-32 GHz and 28.9-31.75 GHz. The CMA analyzed, simulated, and measured gain is 4.82 and 5.6 dBi, respectively. The proposed antenna has a stable response for conformal orientations along the x and y-axis. The antenna has resulted in bidirectional radiation in the XZ plane with simulated and measured half-power-beam-width (HPBW) of 58° and 54°. In the YZ plane, it resulted in omnidirectional radiation. The simulated and measured results are in good agreement. The article also performs the link budget analysis. It suggested that the antenna can communicate 100 Mbps of data to a distance of 100 m and 1 Gbps of data up to 70 m. Thus, the proposed antenna structure is suitable for wearable, IoT, and other 5G wireless applications. [ABSTRACT FROM AUTHOR]

This paper presents, a modified rhombus-shaped antenna designed and analyzed using characteristic mode analysis (CMA) for a sub-6 GHz range of 5G. The proposed antenna is extended to design a 2 × 1 MIMO antenna having a wide bandwidth of 2600 MHz (3.2–5.8 GHz). The high level of mutual coupling (|S21|= − 12.31 dB at 4.75 GHz) exhibited by MIMO antenna is alleviated with the help of modified hexagonal-shaped mu-negative (MNG) metamaterial unit cells. Using CMA, MNG unit cells are placed (onto MIMO antenna) such that orthogonal modes are generated within MIMO antenna elements resulting in a high isolation level (S21 < − 25 dB) for the entire operating range of bandwidth (with peak value of − 34.4 dB at 4.75 GHz). This also aids in the miniaturization of MIMO antenna by enabling the placement of antenna elements at a minimized edge-to-edge gap of 0.13λ (where, λ is the resonating frequency). The proposed MIMO antenna with MNG unit cells (called MNG-MIMO antenna) exhibits good envelope correlation coefficient with (ECC < 0.001) and diversity gain (DG = 9.9 dB), along with a high radiation efficiency of 82% while retaining a wide-bandwidth (2600 MHz). Also, the proposed MNG-MIMO antenna exhibits circular polarization (Axial ratio < 3 dB) in the frequency range of 4.56–4.89 GHz. An eight-element MNG-MIMO antenna (called eight-element MNG-MIMO) with a ground plane of 170 × 80 mm2 is analyzed to highlight the practicality of the proposed MNG-MIMO antenna. The obtained simulated response of eight-element MNG-MIMO indicates no change in efficiency and ECC levels however a minor variation in isolation is observed. Thus with a compact volume of 990mm3, the proposed design is fit for various 5G and IoT applications. [ABSTRACT FROM AUTHOR]

The article focuses on autophagy, a self-digestive process in eukaryotic cells that maintains cellular homeostasis through proteolysis. It classifies autophagy into three categories: macroautophagy, microautophagy, and chaperone-mediated autophagy (CMA), each involving distinct membrane dynamics. It highlights recent progress in understanding the molecular mechanisms of initiation, membrane elongation in macroautophagy, substrate recognition in microautophagy.

We describe the complex case of a 44-year-old man with polycystic kidney disease, mild cognitive impairment, and tremors in the upper limbs. Brain MRI showed lesions compatible with leukodystrophy. The diagnostic process, which included clinical exome sequencing (CES) and chromosomal microarray analysis (CMA), revealed a triple diagnosis: autosomal dominant polycystic kidney disease (ADPKD) due to a pathogenic variant, c.2152C>T-p.(Gln718Ter), in the PKD1 gene; late-onset phenylketonuria due to the presence of two missense variants, c.842C>T-p.(Pro281Leu) and c.143T>C-p.(Leu48Ser) in the PAH gene; and a 915 Kb duplication on chromosome 15. Few patients with multiple concurrent genetic diagnoses are reported in the literature; in this ADPKD patient, genome-wide analysis allowed for the diagnosis of adult-onset phenylketonuria (which would have otherwise gone unnoticed) and a 15q11.2 duplication responsible for cognitive and behavioral impairment with incomplete penetrance. This case underlines the importance of clinical genetics for interpreting complex results obtained by genome-wide techniques, and for diagnosing concurrent late-onset monogenic conditions. [ABSTRACT FROM AUTHOR]

Using characteristic mode analysis (CMA), a pair of ultra-wideband (UWB) and narrow band antennas is made. The Multiple Input Multiple Output (MIMO) configuration incorporates a circular monopole to attain UWB functionality, while an umbrella-shaped element generates the narrowband operation. The two radiators are symmetrically positioned to accomplish space diversity. Distinct sizes of small electromagnetic band gap cells separate the two radiators. The MIMO structure has dimensions of 40×40×1.6 mm3 (0.32λo×0.32λo×0.12 λo) and improved isolation is accomplished by adding a T-shaped stub to the ground plane. The exceptional bandwidth of 11.6 GHz offered by the Circular-pot UWB antenna covers a frequency range from 2.4 GHz to 14 GHz. The antenna demonstrates favorable MIMO performance, featuring a gain of 4.9dBi, isolation exceeding 23 dB. The diversity characteristics encompass an enveloped correlation coefficient (ECC) of under 0.0012, a diversity gain (DG) approaching 10 dB, a channel capacity loss of 0.28 b/s/Hz, and a mean effective gain (MEG) measuring -3.3 dB. A favorable agreement between the tested and simulated results.

Introduction: Invasive prenatal testing with chromosomal microarray analysis after first-trimester screening is a relevant option but there is still debate regarding the indications. Therefore, we evaluated the prevalence of numerical chromosomal aberrations detected by classic karyotype and clinically relevant copy number variants (CNVs) in prenatal samples using array comparative genomic hybridization (aCGH) stratified to NT thickness: 4.5 mm, and by the presence/absence of associated structural anomalies detected by ultrasonography. Materials and Methods: Retrospective cohort study carried out at two tertiary Polish centers for prenatal diagnosis (national healthcare system) in central and south regions from January 2018 to December 2021. A total of 1746 prenatal samples were received. Indications for invasive prenatal testing included high risk of Down syndrome in the first-trimester combined test (n = 1484) and advanced maternal age (n = 69), and, in 193 cases, other reasons, such as parental request, family history of congenital defects, and genetic mutation carrier, were given. DNA was extracted directly from amniotic fluid (n = 1582) cells and chorionic villus samples (n = 164), and examined with classic karyotype and aCGH. Results: Of the entire cohort of 1746 fetuses, classical karyotype revealed numerical chromosomal aberrations in 334 fetuses (19.1%), and aCGH detected CNV in 5% (n = 87). The frequency of numerical chromosomal aberrations increased with NT thickness from 5.9% for fetuses with NT < p95th to 43.3% for those with NT > 4.5 mm. The highest rate of numerical aberrations was observed in fetuses with NT > 4.5 mm having at least one structural anomaly (50.2%). CNVs stratified by NT thickness were detected in 2.9%, 2.9%, 3.5%, 4.3%, 12.2%, and 9.0% of fetuses with NT < 95th percentile, 95th percentile–2.9 mm, 3.0–3.4 mm, 3.5–3.9 mm, 4.0–4.5 mm, and >4.5 mm, respectively. After exclusion of fetuses with structural anomalies and numerical aberrations, aCGH revealed CNVs in 2.0% of fetuses with NT < 95th percentile, 1.5% with NTp95–2.9 mm, 1.3% with NT 3.0–3.4 mm, 5.4% with NT 3.5–3.9 mm, 19.0% with NT 4.0–4.5 mm, and 14.8% with NT > 4.5 mm. Conclusions: In conclusion, our study indicates that performing aCGH in samples referred to invasive prenatal testing after first-trimester screening provides additional clinically valuable information over conventional karyotyping, even in cases with normal NT and anatomy.

Aimed to transmit electromagnetic energy in wireless power transfer, a planar substrate-integrated grid antenna array with four I-shaped slots was designed. A transverse stub was added to the microstrip line to produce additional resonance; hence, the impedance bandwidth was enhanced from 1.9% to 6%. Four I-shaped slots were formed on a perfect electric conductor (PEC) sheet to realize boresight radiation. Four gaps were etched to refine and compress the in-band impedance property. Furthermore, characteristic mode theory was adopted to analyze the working mechanism. Finally, the measurement results showed that the antenna had an operating bandwidth of 5% (|S11| < −10 dB from 5.67 GHz to 5.96 GHz). In the operating band, the boresight gain varied from 9.3 dBi to 11.3 dBi. The cross-polarization level was lower than −30 dB on the boresight. Therefore, the proposed array is suitable for use in wireless power transfer systems and other related applications.

A compact wearable four-element dual-band antenna with good isolation is presented here. The antenna constitutes of a circular monopole with slits and slots incorporated into it to generate dual-band function, and a unique defected ground structure (DGS) with vertical stubs to neutralize coupling current and enhance isolation. The proposed antenna has a dimension of 62 × 52 × 0.25 mm3, bandwidth of 3.8–4.43 GHz (15.31%) and 5.25–6.3 GHz (18.18%), and 5.2 dBi peak gain. The specific absorption rate (SAR) analysis in W/kg for 1/10 g tissue exhibits values of 0.877/0.356 at 4.1 GHz and 0.309/0.105 at 5.3 GHz respectively. The antenna radiation characteristics are analysed using characteristic mode analysis. Furthermore, the diversity parameters are investigated, and the antenna exhibits relatively good results with envelope correlation coefficient (ECC) 9.99 dB, total active reflection coefficient (TARC)

BackgroundMycobacterium kansasii infection is one of the most common causes of non-tuberculosis mycobacterial (NTM) disease worldwide. However, accurate information on the global prevalence of this bacterium is lacking. Therefore, this study was conducted to investigate the prevalence of M. kansasii in clinical and environmental isolates.MethodsDatabases, including PubMed, Scopus, and the Web of Science, were utilized to gather articles on the prevalence of M. kansasii in clinical and environmental isolates. The collected data were analyzed using Comprehensive Meta-Analysis software.ResultsA total of 118 and 16 studies met the inclusion criteria and were used to analyze the prevalence of M. kansasii in clinical and environmental isolates, respectively. The prevalence of M. kansasii in NTM and environmental isolates were 9.4 and 5.8%, respectively. Subsequent analysis showed an increasing prevalence of M. kansasii over the years. Additionally, the results indicated a significant difference in the prevalence of this bacteria among different regions.ConclusionThe relatively high prevalence of M. kansasii among NTM isolates suggests the need for further implementation of infection control strategies. It is also important to establish appropriate diagnostic criteria and management guidelines for screening this microorganism in environmental samples in order to prevent its spread, given its high prevalence in environmental isolates.

The development of electronic systems and wireless communication has led to a proportional increase in data traffic over time. One potential solution for alleviating data congestion is to augment the bandwidth capacity. This study presents a novel asymmetric circular slotted semi-circle-shaped monopole antenna design using a defective ground structure. The extended ultrawide bandwidth is achieved by implementing a design where the semi-circle radiator is etched in a specific asymmetric circular slot. This involves etching a circle with a radius of 1.25 mm at the center of the radiator, as well as a succession of circles with a radius of 0.75 mm along the edges of the radiator. In addition, the ground plane is situated at a lower elevation and features a U-shaped truncation that has been etched onto its surface. The expansion of the impedance bandwidth can be accomplished by making adjustments to the radiator and ground plane. The UWB antenna under consideration possesses a geometric configuration of 21.6 × 20.8 × 1.6 mm3 and the antenna is fabricated using an FR-4 glass epoxy substrate. The UWB antenna operates throughout the frequency range of 2.2–16.5 GHz, exhibiting a gain of at least 3.45 dBi across the entire impedance bandwidth and the maximum peak gain of 9.57 dBi achieved at the mid-resonance frequency of 10.5 GHz. The investigation of the antenna's physical properties is conducted utilizing characteristic mode analysis. The investigation also includes an analysis of the time-domain characteristics, revealing that the group delay was found to be less than 1 ns across the operational frequency range. The predicted and measured findings demonstrate consistency and confirm that the suggested antenna is suitable for electronic systems and wireless applications. [ABSTRACT FROM AUTHOR]

In this paper, a novel circularly polarized (CP) high-gain low-profile single-layer metasurface (MTS) antenna fed by a coplanar waveguide is presented for wideband low radar cross-section (RCS) applications. Characteristics mode analysis (CMA) technique is employed to simultaneously excite the useful modes rather than using conventional technique to achieve circular polarization in the wideband. By analyzing the characteristics modes of the antenna, gain of the antenna is also improved. Experimental results verify good performance of the proposed antenna with a compact size of 0.67 λ 0 × 0.67 λ 0 × 0.040 λ 0. The measured results of the antenna exhibit UWB impedance bandwidth of 96.93% in the frequency range of 3.7–10.65 GHz and 3 dB axial ratio bandwidth of about 41.8% in the frequency range of 5.3–8.1 GHz. The antenna shows a good radiation pattern with a measured peak gain of 7.9 dBic at 7.97 GHz. The proposed antenna achieves out-of-band scattering suppression in the wide range of 10–24 GHz because of MTS structure with peak RCS reduction of 19 dB at 12 GHz. The proposed antenna can be used for c - and x -band applications. [ABSTRACT FROM AUTHOR]

The recommended practice for individuals suspected of a genetic etiology for disorders including unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA) involves a genetic testing workflow including chromosomal microarray (CMA), Fragile-X testing, karyotype analysis, and/or sequencing-based gene panels. Since genomic imbalances are often found to be causative, CMA is recommended as first tier testing for many indications. Optical genome mapping (OGM) is an emerging next generation cytogenomic technique that can detect not only copy number variants (CNVs), triploidy and absence of heterozygosity (AOH) like CMA, but can also define the location of duplications, and detect other structural variants (SVs), including balanced rearrangements and repeat expansions/contractions. This study compares OGM to CMA for clinically reported genomic variants, some of these samples also have structural characterization by fluorescence in situ hybridization (FISH). OGM was performed on IRB approved, de-identified specimens from 55 individuals with genomic abnormalities previously identified by CMA (61 clinically reported abnormalities). SVs identified by OGM were filtered by a control database to remove polymorphic variants and against an established gene list to prioritize clinically relevant findings before comparing with CMA and FISH results. OGM results showed 100% concordance with CMA findings for pathogenic variants and 98% concordant for all pathogenic/likely pathogenic/variants of uncertain significance (VUS), while also providing additional insight into the genomic structure of abnormalities that CMA was unable to provide. OGM demonstrates equivalent performance to CMA for CNV and AOH detection, enhanced by its ability to determine the structure of the genome. This work adds to an increasing body of evidence on the analytical validity and ability to detect clinically relevant abnormalities identified by CMA. Moreover, OGM identifies translocations, structures of duplications and complex CNVs intractable by CMA, yielding additional clinical utility. [ABSTRACT FROM AUTHOR]