Profiling Studies Research Articles

A Study of the Clinical Profile of Iron Deficiency Anemia in Children With Sickle Cell Disease in a Tertiary Care Center.

Background Sickle cell disease (SCD) and iron deficiency anemia (IDA) are significant global health concerns, particularly in pediatric populations. This study investigates the prevalence, clinical impact, and management challenges of IDA in children with SCD. Methods A prospective observational study was conducted at the Department of Pediatrics, Jawaharlal Nehru Medical College(JNMC) and Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, from June 2022 to May 2024. The study included 60 children diagnosed with SCD. Comprehensive assessments were performed, including medical histories, physical examinations, and hematological investigations. Diagnosis of IDA was based on hemoglobin levels, mean corpuscular volume (MCV), red cell distribution width (RDW), peripheral blood smears, serum iron levels,and serum ferritin concentrations. Results Of the 60 participants, 15% exhibited iron deficiency. No significant gender differences were found in iron deficiency status. A significant association was observed between SCD type and the presence of pallor (p = 0.025) and sickle cell crises (p = 0.023). The study also found no significant association between SCD type and the presence of organomegaly (p = 0.079) or iron deficiency status (p = 0.675). The mean hemoglobin levels varied across SCD types, with sickle cell anemia patients showing lower levels than those with sickle cell trait or disease. Conclusion Diagnosing and managing IDA in children with SCD is complex due to overlapping hematological features and the risk of iron overload from frequent transfusions. Tailored diagnostic and therapeutic approaches are essential to improving hemoglobin levels, reducing complications, and enhancing the quality of life for affected children. This study provides valuable insights for refining clinical practices and emphasizes the need for a multidisciplinary approach to managing these intertwined conditions.

A Study Of Bacteriological Profile And Antibiotic Sensitivity Pattern OfDiabetic Foot Ulcer Patients In A Tertiary Care Hospital Of West Bengal

A Study Of Bacteriological Profile And Antibiotic Sensitivity Pattern OfDiabetic Foot Ulcer Patients In A Tertiary Care Hospital Of West Bengal

Abstract C057: Pilot study of vaginal microbiome profiles among Black and White endometrial cancer survivors

Abstract Background: Lower vaginal microbiome diversity, and specifically a Lactobacillus crispatis-dominant vagitype, is associated with more favorable health outcomes. Racial variation in the vaginal microbiome has been reported in some studies, including gynecologic cancers. Racial disparities in endometrial cancer 5-year survival are stark—62% for Black women vs. 83% for White women. Cancer treatments can acutely impact the microbiome of surrounding tissues with potential impacts on quality of life in survivorship, including sexual function. The objectives of this pilot research were to assess the feasibility of self-sampling and variation in vaginal microbiome communities by race, cancer treatment, and sexual function among endometrial cancer survivors. Methods: Endometrial cancer survivors (N=50, mean=11 months from diagnosis) enrolled in the Carolina Endometrial Cancer Study were mailed Genotek vaginal microbiome self-collection kits and the validated Sexual Function-Vaginal Changes Questionnaire (SVQ) before a nurse home visit. Microbiota profiles were characterized by bacteria 16S rRNA amplicon sequencing. Vagitypes were classified as Lactobacillus-dominant and other based on relative abundance (>50% vs. ≤50%) and Ward hierarchical clustering. Results: Overall, 48 vaginal samples were obtained. We excluded samples from women who reported antibiotic use within the last month (N=8) or were missing treatment data (N=6), leaving 34 samples. Of these, 47% were from Black survivors and 53% from White. Cancer treatments were categorized as surgery only (47%) vs. any chemotherapy or radiation (53%); and did not vary by race (p >.9). Black women did not have statistically significant different alpha (Shannon p=0.9) or beta (p=0.4) diversity, or a differential proportion of Lactobacillus dominant vagitype (59% vs. 41%, p=0.3) compared to White women. Alpha (Shannon p=0.04) and beta (p=0.004) diversity varied by cancer treatment with higher microbial diversity after chemotherapy or radiation compared to surgery alone. In the surgery only group, 63% of samples were Lactobacillus dominant, compared to 17% among the chemotherapy or radiation group (p=0.006). We examined cancer treatment associations in analyses restricted to the more favorable endometroid histology (N=25), as surgery alone is associated with endometrioid histology and better prognosis. In this subgroup, 57% (8/14) of women treated with surgery only had Lactobacillus-dominant vagitypes compared to 27% (3/11) in the chemotherapy/ radiation group (p=0.1). Lactobacillus-dominant vagitype was not associated with SVQ scales (global satisfaction; changes in intimacy or interest; dryness; pain). Conclusion: Self-collection of vaginal microbiome samples is feasible in cancer survivors. In our study, Lactobacillus-dominant vagitypes were less abundant among women who were treated with more intensive cancer therapies and did not vary by race or sexual function. Radiation and chemotherapy for endometrial cancer may affect vaginal microbiome composition after treatment ends. Citation Format: Mu Jin, Tope Keku, Nikki McCoy, Jordyn Brown, Jamie Hunter, Victoria Bae-Jump, M. Andrea Azcarate-Peril, Stephanie Engle, Andy Olshan, Hazel B Nichols. Pilot study of vaginal microbiome profiles among Black and White endometrial cancer survivors [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C057.

The RAS/BRAF genes status in patients with colorectal cancer (review)

Colorectal cancer (CRC) is the third in prevalence among oncological diseases worldwide and second in the structure of oncological mortality. Genetic assessment of CRC is a necessary stage during selecting further treatment for patients. Many studies demonstrate a diverse distribution of mutations in the KRAS, NRAS, and BRAF genes in CRC. A critical literature review was conducted in order to systematize data on the mutational profile and genetic heterogeneity of these driver mutations in Russian patients with CRC. Articles were searched for in open databases. Totally 17 Russian studies and 3 English meta-analyses were analyzed for comparison with Russian data. Mutations in the KRAS, NRAS, and BRAF genes, according to Russian and international studies, are found in 40 %, 4 %, and 7 % in CRC patients, respectively. The frequency and specific localization of mutations may depend on the geographical location and nationality of the cohort. High intertumoral and intratumoral heterogeneity in CRC, especially in KRAS gene mutations, significantly influences the choice of further therapy and underscores the need for more detailed study of the mutational profile of the primary tumor, affected lymph nodes, and distant metastases. In Russia, several molecular genetic methods are used to determine somatic mutations in CRC with different sensitivity and specificity, the most common is real-time PCR. More accurate diagnostic methods include digital droplet PCR, Sanger sequencing, and next-generation sequencing, but each method has its limitations that must be considered when planning diagnostics and research. The promising directions in personalized oncology is the study of gene copy number variations, which may contribute to the development of new methods for treating CRC in the future. Despite the large number of studies, some aspects of the mutational profile of CRC in Russian studies remain poorly understood, which is why further research is needed on patients with colorectal cancer in Russia.

A pharmacokinetic profiling study after single-tablet regimen of camylofin 50 mg and paracetamol 325 mg in healthy participants

A pharmacokinetic profiling study after single-tablet regimen of camylofin 50 mg and paracetamol 325 mg in healthy participants

Pelargonium graveolens: Towards In-Depth Metabolite Profiling, Antioxidant and Enzyme-Inhibitory Potential.

Pelargonium graveolens L'Hèr. (Geraniaceae) is renowned for its traditional use as a flavor, ornamental and medicinal plant. This work aimed at an in-depth study of the phytochemical profiling and in vitro antioxidant and enzyme inhibition assessment of a methanol-aqueous extract from P. graveolens leaves. A UHPLC-HRMS analysis revealed more than 110 secondary metabolites, including 8 acyltartaric and 11 acylcitric/acylisocitric acids; 8 gallotannins; 36 flavonols, flavanones and methoxylated flavonoids together with 17 phenolic and aliphatic acids; and 21 phenolic acid glycosides. For the first time, acylcitric acids along with feruloyl- and coumaroyltartaric acids are reported in the species. The leaf extract actively scavenged 2,2-diphenyl-1-picrylhydrazyl DPPH (273.45 mg trolox equivalent (TE/g)) and 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS•+) radicals (531.97 mgTE/g) and showed a high reducing power: 431.32 mg TE/g Cupric reducing antioxidant capacity (CUPRAC) and 292.21 mg TE/g Ferric reducing antioxidant power (FRAP). It possessed a metal chelating capacity (13.44 ethylenediaminetetraacetic acid equivalent (EDTAE)/g) and contained 2.71 mmol TE/g in the phosphomolybdenum assay. The rose geranium extract exhibited high inhibition towards acetyl- and butyrylcholinesterase (2.80 and 2.20 mg galantamine equivalent (GALAE)/g, respectively) and tyrosinase (75.49 mg kojic acid equivalent (KAE)/g). It inhibited α-glucosidase and α-amylase (3.75 mmol and 0.79 acarbose equivalent (ACAE)/g, respectively) and lipase (28.91 mg orlistat equivalent (OE)/g). This study sheds light into the future potential application of the rose geranium in pharmaceutical and nutraceutical products.

Comprehensive analyses of a large human gut Bacteroidales culture collection reveal species- and strain-level diversity and evolution

Species of the Bacteroidales order are among the most abundant and stable bacterial members of the human gut microbiome, with diverse impacts on human health. We cultured and sequenced the genomes of 408 Bacteroidales isolates from healthy human donors representing nine genera and 35 species and performed comparative genomic, gene-specific, metabolomic, and horizontal gene transfer analyses. Families, genera, and species could be grouped based on many distinctive features. We also observed extensive DNA transfer between diverse families, allowing for shared traits and strain evolution. Inter- and intra-species diversity is also apparent in the metabolomic profiling studies. This highly characterized and diverse Bacteroidales culture collection with strain-resolved genomic and metabolomic analyses represents a valuable resource to facilitate informed selection of strains for microbiome reconstitution.

Current Trends in Clinico-Bacteriological Profile and Antimicrobial Susceptibility Pattern in Active Chronic Suppurative Otitis Media (Safe and Unsafe) at a Tertiary Care Center in Uttarakhand: An Observational Study.

Otitis media is defined as inflammation of the middle ear due to any cause that may also involve any contiguous pneumatized portion of the temporal bone. It is also one of the most common diseases of childhood after viral upper respiratory tract infection. As a result of the widespread availability of over-the-counter topical antibiotics and the irrational use of these agents, there is a development of multidrug-resistant bacteria. The aim of this study was to assess the current bacteriological profile and antimicrobial susceptibility pattern in clinically diagnosed cases of active chronic otitis media (COM) at a tertiary care center in Uttarakhand. The proposed observational cross-sectional study was conducted in the Department of Otolaryngology and Head and Neck Surgery and Department of Microbiology of Government Doon Medical College Hospital, Dehradun, over a period of 18 months from August 2022 to January 2024. One hundred and thirty-seven cases of active COM fulfilling the inclusion criteria were recruited in the study. Under strict aseptic conditions, pus samples were collected from the middle ear using two sterile cotton swabs under microscopic examination and sent to the microbiology lab for pathogen identification and isolation. The isolated organisms were subjected to antibiotic susceptibility testing using VITEK-2 as per the latest Clinical and Laboratory Standards Institute (CLSI) guidelines. Results: In the present study, the most common age group affected by COM was between 18 and 30 years with female predominance. Pseudomonas aeruginosa (33.6%) was the predominantly isolated organism followed by Staphylococcus aureus (17.8%). Considering the antibiotic susceptibility, Pseudomonas aeruginosa was susceptible to piperacillin/tazobactam and meropenem while least sensitive to levofloxacin and ciprofloxacin. Staphylococcus aureus was susceptible to linezolid, daptomycin, and vancomycin. The maximum resistance of Staphylococcus aureus was observed to ciprofloxacin and levofloxacin. The study of changing clinico-bacteriological profile and antibiotic susceptibility pattern in cases of COM due to variations in the geography and environment of the study population can help to guide appropriate antibiotic treatment and thus prevent the development of multidrug-resistant bacteria.

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Although comprehensive genomic profiling has become standard in oncology for advanced solid tumors, the full potential of circulating tumor DNA (ctDNA)-based profiling in capturing tumor heterogeneity and guiding therapy selection remains underexploited, marked by a scarcity of evidence on its clinical impact and the assessment of intratumoral heterogeneity. The GOZILA study, a nationwide, prospective observational ctDNA profiling study, previously demonstrated higher clinical trial enrollment rates using liquid biopsy compared with tissue screening. This updated analysis of 4,037 patients further delineates the clinical utility of ctDNA profiling in advanced solid tumors, showcasing a significant enhancement in patient outcomes with a 24% match rate for targeted therapy. Patients treated with matched targeted therapy based on ctDNA profiling demonstrated significantly improved overall survival compared with those receiving unmatched therapy (hazard ratio, 0.54). Notably, biomarker clonality and adjusted plasma copy number were identified as predictors of therapeutic efficacy, reinforcing the value of ctDNA in reflecting tumor heterogeneity for precise treatment decisions. These new insights into the relationship between ctDNA characteristics and treatment outcomes advance our understanding beyond the initial enrollment benefits. Our findings advocate for the broader adoption of ctDNA-guided treatment, signifying an advancement in precision oncology and improving survival outcomes in advanced solid tumors.

Abstract B051: Influence of MUC16 on the immune tumor microenvironment of PDAC

Abstract Pancreatic ductal adenocarcinoma (PDAC) is an aggressive disease. In most cases, PDAC initiation results from oncogenic KRAS mutations, that act in part by directly increasing levels of a glycoprotein called Mucin-16 (MUC16). MUC16 is virtually absent in the normal pancreas, expressed on tumor cells in >65% of PDAC and is a marker of poor prognosis. The cell autonomous roles of MUC16 involve signaling through the ErbB-1/2/3 axes, and eliciting downstream AKT and GSK-3β activation to promote cell proliferation and survival. PDAC has a very interesting “immune cold” tumor microenvironment (TME) that is devoid of anti-tumor T cells and is instead flush with pro-tumor myeloid cells like macrophages. However, the role of MUC16 in influencing immune cells, particularly macrophages has not been investigated. Methods: We use immunohistochemistry to check for macrophage populations in spontaneous and orthotopic models of PDAC, KPC (LSL-Kras G12D/+ ; LSL-Trp53 R172H/+ ; Pdx-1- Cre) and a derived KPC-MUC16 knockout (KPC-M16KO). Orthotopic implantation with KPC and KPC-M16- cells was done to assess survival. In vitro cytokine screening from M16+/- cells was done to understand cytokine players in MUC16-mediated immunosuppression. Clodronate liposomes (CL) and neutral control liposomes (NL) were used to deplete macrophages in orthotopically implanted KPC and KPC-M16- tumor-bearing mice, and flow cytometry was conducted to profile macrophages and T cells in the pancreas and spleens at the experimental endpoint. Results: We show that KPC-M16KO tumors have decreased M2-like macrophages, and a modest increase in M1-like macrophages, leading to a high M1/M2 ratio suggesting reduced immune suppressed cells in the KPC-M16KO models. KPC-M16KO tumor-bearing mice showed longer survival compared to the KPC group. In addition, we detect low levels of CCL2 and Serpin-E1 in cell lines and tumor tissues from KPC-M16KO models suggesting that they could serve as potential regulators of macrophage infiltration and M2-like polarization downstream of MUC16. Siglec-E (murine homolog of human Siglec-7/9) was also downregulated in KPC-M16KO tumors, suggesting MUC16-Siglec mediated immunosuppression as another mechanism. CL administration (versus NL) resulted in significant macrophage depletion in the spleens of mice with KPC and KPC-M16KO tumors, however, such depletion was not robust in the pancreas. Immune profiling studies showed a high M1/M2 ratio in the spleen and pancreas of mice treated with CL, suggesting a tumor cell-macrophage crosstalk, that could mediate M2-like macrophage states in a macrophage-rich TME. Mice treated with CL have smaller tumors, and KPC-M16KO+CL group had the smallest tumors, indicative that dual disruption of MUC16 and macrophages lowers tumor burden. Conclusions: These results suggest that MUC16 plays a crucial role in modulating the tumor immune microenvironment by increasing the accumulation of immunosuppressive macrophages in PDAC. Citation Format: Christabelle Rajesh, Satish Sagar, Prakash Radhakrishnan. Influence of MUC16 on the immune tumor microenvironment of PDAC [abstract]. In: Proceedings of the AACR Special Conference in Cancer Research: Advances in Pancreatic Cancer Research; 2024 Sep 15-18; Boston, MA. Philadelphia (PA): AACR; Cancer Res 2024;84(17 Suppl_2):Abstract nr B051.

Photochemistry of a proton relay – system with triple fluorescence

The excited state of proton transfer and the dynamics of the excited states of three 3-carboxy substituted bis-salicylidenes (H4L1-3) have been studied by combining steady state and time-resolved absorption and emission methods, and with quantum chemical calculations. The 3-carboxy substituted bis-salicylidenes contain two coupled intramolecular hydrogen bonds of the OH…OH…N type. This system has two proton transfer sites. The compounds have excitation – dependent emission and a high sensitivity to the solvent polarity. ESIPT and deprotonation result in the co-existence of enol, keto, anionic and zwitterionic species with or without quinoid structure, whose emission bands are located from the blue to the yellowish-green region. The photophysical processes in the nano-to-microseconds timescale have been linked to the intermolecular interactions with the solvent, where hydrogen bonding leads to the formation of a cyclic 1:2 solute − solvent complex. Transient absorption spectroscopy revealed that the generation of charged structures of H4L1-3 occurs through a solvent-assisted proton transfer along the chain of two solvent molecules, which act as a proton-relay system. The computational study of the energy profiles and of the enol-to-keto tautomerization with explicit solvent molecules has been performed for the first time for this kind of ESIPT system.

Metabolic and Pharmacokinetic Profiling Studies of N, N-Dimethylaniline-Heliamine in Rats by UHPLC-Q-Orbitrap MS/MS.

Cardiovascular disease is the first cause of death worldwide and kills more people each year than any other cause of death. N, N-dimethylaniline-heliamine (DH), a synthetic tetrahydroisoquinoline alkaloid, has shown notable antiarrhythmic activity. However, the metabolic processes and pharmacokinetic characteristics of DH in rats have not been studied. This study aims to identify its metabolites, as well as develop and validate a rapid and efficient bioanalytical method for quantifying DH in rat plasma over a wide range of concentrations. Its metabolites were characterized in silico, in vitro, and in vivo. A series of 16 metabolites were identified, of which 12 were phase I metabolites and 4 were phase II metabolites. A low probability of DH binding to DNA, protein, and glutathione is predicted by the in silico model. The main metabolic processes of DH were demethylation, dehydrogenation, glucuronidation, and sulfation. Concentration-time profiles were generated by analyzing the plasma, and the outcomes were analyzed via non-compartmental analysis to identify the pharmacokinetic parameters. Among the detected parameters were the volume of distribution, estimated at 126,728.09 ± 56,867.09 mL/kg, clearance at 30,148.65 ± 15,354.27 mL/h/kg, and absolute oral bioavailability at 16.11%. The plasma distribution volume of DH was substantially higher than the overall plasma volume of rats, which suggests that DH has a specific tissue distribution in rats. This study suggests that DH is appropriately bioavailable and excreted via a variety of routes and has low toxicity.

De Novo Transcriptome Profiling of Mustard Aphid (Lipaphis erysimi) and Differential Expression of Transcripts Associated with Feeding and Non-Feeding Conditions and Developmental Stages.

Lipaphis erysimi is a specialist aphid of the Indian subcontinent that causes significant yield losses in oilseed Brassicas. Several aphid genes have been used as preferred targets in RNAi-based transgenic plants for aphid resistance. In order to enhance the repertoire of potential target genes for aphid control and to identify the genes associated with aphid feeding and development, we performed a two-way comparative study of differential gene expression profiles between (i) feeding and non-feeding adults and (ii) adult and nymph developmental stages of L. erysimi. De novo RNA-seq of aphids using Illumina technology generated a final transcriptome comprising 52,652 transcripts. Potential transcripts for host selection, detoxification, salivary proteins and effectors, molecular chaperones and developmental genes were identified. Differential gene expression studies identified variations in the expression of 1502 transcripts between feeding and non-feeding adults and 906 transcripts between nymphs and adults. These data were used to identify novel target genes for RNAi-based aphid control and facilitate further studies on the molecular basis of aphid feeding and development.

Reference gene evaluation for normalization of gene expression studies with lymph tissue and node‑derived stromal cells of patients with oral squamous cell carcinoma.

Profiling studies using reverse transcription quantitative PCR (RT-qPCR) require reliable normalization to reference genes to accurately interpret the results. A stable reference gene panel was established to profile metastatic and non-metastatic lymph nodes in patients with oral squamous cell carcinoma. The stability of 18S ribosomal RNA (18SrRNA), ribosomal Protein Lateral Stalk Subunit P0 (RPLP0), ribosomal Protein L27 (RPL27), TATA-box binding protein (TBP), hypoxanthine phosphoribosyl-transferase 1 (HPRT1), beta-actin (ACTB), glyceraldehyde-3-Phosphate Dehydrogenase (GAPDH) and vimentin (VIM) was evaluated, as reference genes for profiling patient-derived lymph node stromal cells (LNSCs; N=8; N0:6, N+:2) and lymph node tissues (Patients:14, Nodes=20; N0:7; N+:13). The genes were initially assessed based on their expression levels, specificity, and stability rankings to identify the best combination of reference genes. VIM was excluded from the final analysis because of its low expression (high quantification cycle >32) and multiple peaks in the melting curve. The stability analysis was performed using Reffinder, which utilizes four tools; geNorm, NormFinder, BestKeeper and Comparative ∆Ct methods, thereby enabling the computing of a comprehensive ranking. Evaluation of the gene profiles indicated that while RPLP0 and 18SrRNA were stable in both lymph node tissues and LNSCs, HPRT1, RPL27 were uniquely stable in these tissues whereas ACTB and TBP were most stable in LNSCs. The present study identified the most stable reference gene panel for the RT-qPCR profiling of lymph node tissues and patient-derived LNSCs. The observation that the gene panel differed between the two model systems further emphasized the need to evaluate the reference gene subset based on the disease and cellular context.

A theoretical study of a radiofrequency wave propagation through a realistic turbulent marine atmospheric boundary layer based on large eddy simulation

This study aims at modeling and investigating the impact of realistic turbulence inhomogeneity on radiowave propagation by utilizing large eddy simulations (LES). An up-to-date version of the X-LES method for generating realistic turbulent phase screens is first introduced. It combines atmospheric simulations with the classical Tatarski statistical modeling. This method naturally incorporates vertical turbulence inhomogeneity into phase screens at scales resolved by LES. It is then extended to sub-grid scales by weighting statistically generated phase variations with the vertical profile of the turbulent structure constant extracted from atmospheric data. This method is applied to replicate turbulence of a classical tropical marine atmospheric boundary layer. The impact of the generated medium on the propagation of a 10 GHz spherical wave emanating from a Gaussian aperture is analyzed through a statistical study of log-amplitude profiles performed for three different source altitudes. Results first show that contrary to a classical homogeneous turbulence modeling, log-amplitude profiles resulting from the propagation into inhomogeneous turbulence exhibit a statistical heterogeneity strongly dependent of source altitude. Furthermore, classical stochastic phase screen generation from a homogeneous Von-Kàrmàn Kolmogorov spectrum seems to give a statistically significant underestimation of the actual impact of turbulence compared to the X-LES method.

Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT.

Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy-number variants (pCNVs). We also wanted to quantify the performance of combined first-trimester screening (cFTS) and a second-trimester anomaly scan in detecting these aberrations. Finally, we aimed to estimate the consequences of a policy of using non-invasive prenatal testing (NIPT) rather than invasive testing with chromosomal microarray analysis (CMA) to manage pregnancies identified as high risk by cFTS. This was a retrospective review of the Danish Fetal Medicine Database of all pregnant women who underwent cFTS and a risk assessment for trisomy 21 between 1 January 2008 and 31 December 2018. Chromosomal aberrations diagnosed prenatally, postnatally or from fetal tissue following pregnancy loss or termination of pregnancy were identified. Chromosomal aberrations were grouped into one of six categories: triploidy; common trisomy (13, 18 or 21); monosomy X; other sex-chromosome aberration (SCA); pCNV; and rare autosomal trisomy (RAT) or mosaicism. The prevalence of each aberration category was stratified by the individual cFTS markers and trisomy 21 risk estimate, and the size of each pCNV diagnosed by CMA was calculated. We retrieved data on 565 708 pregnancies, of which 3982 (0.70%) were diagnosed with a fetal chromosomal aberration. cFTS identified 87% of the common trisomies, but it also performed well in identifying triploidies (86%), monosomy X (92%), atypical SCAs (58%) and RATs or mosaicisms (70%). pCNVs comprised 27% (n = 1091) of the chromosomal aberrations diagnosed overall, and the prevalence increased during the study period, as prenatal CMA was increasingly being performed. In pregnancies with a maternal age < 30 years, nuchal translucency (NT) thickness ≤ 95th centile, pregnancy-associated plasma protein-A (PAPP-A) ≥ 1 multiple of the median, or trisomy 21 risk of ≤ 1 in 1000, the prevalence of pCNVs exceeded significantly the prevalence of trisomies 21, 18 and 13. Pregnancies affected by a pCNV had significantly increased NT and decreased levels of the maternal biomarkers PAPP-A and β-human chorionic gonadotropin compared with unaffected pregnancies. However, only 23% of these pregnancies screened positive on cFTS and 51% of pCNVs were not detected until after birth. Among high-risk pregnancies, pCNVs comprised 14% of diagnosed aberrations, and when other atypical aberrations were considered, conventional NIPT (screening for trisomies 21, 18 and 13 and monosomy X) would miss 27% of all pathogenic aberrations diagnosed from invasive testing following a high-risk cFTS result. Thus, 1 in 26 pregnancies at high risk following cFTS would be affected by a chromosomal aberration despite a normal result from conventional NIPT. In a contingent screening model using NIPT for the 'intermediate'-risk group (trisomy 21 risk of 1 in 100-299), 50% of the aberrations would be missed. In our cohort, 79% of the pCNVs diagnosed were < 5Mb and therefore not detectable using current forms of 'genome-wide' NIPT. As a by-product of screening for trisomies 21, 18 and 13, most triploidies and the majority of atypical SCAs, RATs and mosaicisms are detected before birth. However, only 23% of pCNVs are associated with a high-risk result according to cFTS and only half are diagnosed before birth. Replacing invasive testing with NIPT for high-risk pregnancies would substantially decrease the first-trimester detection of pathogenic chromosomal anomalies. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Volatilomics: An emerging discipline within Omics Sciences - A systematic review

Introduction Volatilomics is an omics science that is characterized as being a specific subbranch of metabolomics, which studies the different types of volatile organic compounds that may be present in a certain biological matrix. It has had impacts on the identification of new natural compounds and food safety processes, since it allows the evaluation of emerging contaminants that are present on food matrices, through the identification of biomarkers generated in response to this type of xenobiotic compounds through xenovolatilomic studies. Objective In this way, this review seeks to understand the scientific advances reported towards volatilomic studies, for which different types of primary research are reported depending on the main instrumental techniques used for the characterization of different types of VOCs that have been reported in our country between 2012 and 2022. Methodology Using a qualitative methodology, a search was carried out in the Scopus database, from which the bibliometric information of the primary research reported during this time was obtained, to later analyze the different research concerning the use of volatilomic studies and the fields of action that are currently used, as well as the different techniques for obtaining these compounds and the data analysis methodologies established for the processing of this type of research. Conclusions Finally, it can be concluded that, from the present review, the applicability of volatilomic studies is shown. The incursion carried out by this type of science on the verification of food safety in different types of matrices, in addition to allowing the study of the volatile profile formed by the different volatile organic compounds expressed by said matrix and the respective ecological role expressed by these compounds with the environment in which they are found.

Belief in conspiracy theories and satisfaction in interpersonal relationships

AbstractResearchers have theorized about how belief in conspiracy theories can negatively affect interpersonal relationships. However, despite growing anecdotal evidence of the effects that conspiracy theories seem to have on people's relationships, a systematic assessment of these effects is lacking. In seven studies (six of them preregistered, N = 2526), we examined whether people's perceptions of others' conspiracy beliefs were negatively associated with their actual (or anticipated) relationship satisfaction with those others. We found that participants' perceptions of their social contacts' beliefs in general (Pilot Studies 1–2) and specific conspiracy theories (Study 1) were negatively associated with their relationship satisfaction with those contacts. Using a hypothetical scenario, we further observed that participants anticipated that their relationship satisfaction would worsen when one of these social contacts explicitly endorsed (vs. opposed) a conspiracy theory (Studies 2, 3a, and 3b). Finally, participants expected lower relationship satisfaction with a stranger who endorsed (vs. opposed) a conspiracy theory in their online dating profile (Study 4). Importantly, across all studies we observed that participants' own conspiracy beliefs moderated the association between others' conspiracy beliefs and relationship satisfaction, revealing a similarity–dissimilarity pattern: although the association was negative among participants with weaker conspiracy beliefs, we observed signals of reversal among participants with stronger conspiracy beliefs. Our findings further suggest that a process of attitudinal distancing (among other relational changes) could explain why perceived conspiracy beliefs negatively predicted relationship satisfaction. Taken together, this research provides evidence that conspiracy beliefs have the potential to harm interpersonal relationships.

A Study of Clinical, Radiological, and Etiological Profiles of Patients with Cavitary Lung Disease

Abstract Background: This study aims to find out the distribution pattern of cavitary lung disease across clinical, radiological, and etiological variables. Methods: This is an observational monocentric retrospective study conducted in Apollo Hospital, Greams Road, Chennai, between August 2022 and May 2023. After excluding cases lacking follow-up and no clinical data, 50 patients with cavitary lung disease who underwent bronchoscopy were included in this study. Data such as demographics, smoking status, clinical presentation, comorbidities, and radiological features were obtained. Results: Of the 50 participants, the majority had tuberculosis (TB), fungal, and bacterial infections. Fungal cavities were common in males with uniform age distribution and had cavities with air crescent signs. Bronchoscopy was inconclusive in most of them and required either computed tomography or video-assisted thoracic surgery (VATS)-guided biopsy to establish a diagnosis. The most common malignancy was squamous cell carcinoma, and autoimmune disease was granulomatous polyangiitis. Conclusion: Our study shows that the presence of cavities points more toward TB. One of the key measures in making TB treatment and control activities a success is identifying patients at high risk of transmission and poor outcomes like patients with cavities. However, it is important to exclude other diagnoses like malignancy where the prognosis can be fatal.

P.522: Study of clinical profile of post renal transplant Infections during first year after transplant- A single center study.

P.522: Study of clinical profile of post renal transplant Infections during first year after transplant- A single center study.