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1.
Artigo em Inglês | MEDLINE | ID: mdl-37842810

RESUMO

High-throughput technologies and machine learning (ML), when applied to a huge pool of medical data such as omics data, result in efficient analysis. Recent research aims to apply and develop ML models to predict a disease well in time using available omics datasets. The present work proposed a framework, 'OmicPredict', deploying a hybrid feature selection method and deep neural network (DNN) model to predict multiple diseases using omics data. The hybrid feature selection method is developed using the Analysis of Variance (ANOVA) technique and firefly algorithm. The OmicPredict framework is applied to three case studies, Alzheimer's disease, Breast cancer, and Coronavirus disease 2019 (COVID-19). In the case study of Alzheimer's disease, the framework predicts patients using GSE33000 and GSE44770 dataset. In the case study of Breast cancer, the framework predicts human epidermal growth factor receptor 2 (HER2) subtype status using Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) dataset. In the case study of COVID-19, the framework performs patients' classification using GSE157103 dataset. The experimental results show that DNN model achieved an Area Under Curve (AUC) score of 0.949 for the Alzheimer's (GSE33000 and GSE44770) dataset. Furthermore, it achieved an AUC score of 0.987 and 0.989 for breast cancer (METABRIC) and COVID-19 (GSE157103) datasets, respectively, outperforming Random Forest, Naïve Bayes models, and the existing research.

2.
Front Genet ; 14: 1075767, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36741327

RESUMO

Globally, malnutrition has given birth to an alarming predicament, especially in developing countries, and has extensively shifted consumer preferences from conventional high-energy diets to a nutritionally balanced, cost-effective, sustainable, and healthy lifestyle. In keeping with this view and the mandate for developing high-yielding, disease-resistant biofortified staple food (wheat) for catering to the demand-driven market, the current research aimed at stacking together the enhanced grain protein content, carotenoid content, and disease resistance in an elite bread wheat background. The Y gene (PsyE1) and the GpcB1 gene were used as novel sources for enhancing the grain carotenoid and protein content in the commercial elite bread wheat cultivar HD2967. The combination also led to the stacking of resistance against all three foliar rusts owing to linked resistance genes. A stepwise hybridization using Parent 1 (HD2967 + PsyE1/Lr19/Sr25) with Parent 2 (PBW550 + GpcB1/Yr36+ Yr15), coupled with a phenotypic-biochemical selection, narrowed down 2748 F2 individuals to a subset of 649 F2 plants for molecular screening. The gene-specific markers PsyE1, PsyD1, Xucw108, and Xbarc8 for the genes PsyE1, PsyD1, GpcB1, and Yr15, respectively, were employed for forward selection. Four bread wheat lines positive for all the desired genes with high carotenoid (>8ppm) and protein (>13%) content were raised to the F5 generation and will be evaluated for yield potential after bulking. These improved advanced breeding lines developed following multipronged efforts should prove a valuable and unique source for the development of cultivars with improved nutritional quality and rust resistance in wheat breeding programs.

3.
Front Genet ; 13: 940660, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36313429

RESUMO

Cytokinins constitutes a vital group of plant hormones regulating several developmental processes, including growth and cell division, and have a strong influence on grain yield. Chemically, they are the derivatives of adenine and are the most complex and diverse group of hormones affecting plant physiology. In this review, we have provided a molecular understanding of the role of cytokinins in developing seeds, with special emphasis on pulses and oilseed crops. The importance of cytokinin-responsive genes including cytokinin oxidases and dehydrogenases (CKX), isopentenyl transferase (IPT), and cytokinin-mediated genetic regulation of seed size are described in detail. In addition, cytokinin expression in germinating seeds, its biosynthesis, source-sink dynamics, cytokinin signaling, and spatial expression of cytokinin family genes in oilseeds and pulses have been discussed in context to its impact on increasing economy yields. Recently, it has been shown that manipulation of the cytokinin-responsive genes by mutation, RNA interference, or genome editing has a significant effect on seed number and/or weight in several crops. Nevertheless, the usage of cytokinins in improving crop quality and yield remains significantly underutilized. This is primarily due to the multigene control of cytokinin expression. The information summarized in this review will help the researchers in innovating newer and more efficient ways of manipulating cytokinin expression including CKX genes with the aim to improve crop production, specifically of pulses and oilseed crops.

4.
Crit Rev Food Sci Nutr ; : 1-17, 2022 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-36069286

RESUMO

Ensuring food and nutritional security of fast-growing population will pose a huge challenge in future. An estimated one-half population who does not go hungry, nonetheless suffers the debilitating effects of unhealthy diets. In view of the nutritional awareness, when the major wheat breeding programs have started shifting to quality, instead of quantity in wheat, the colored wheats give a novel twist of targeting the malnutrition by enhancing the antioxidants such as anthocyanin, carotenoids, flavonoids, polyphenols etc. Moreover, changing consumer demands have picked the trend to prefer a nutritionally balanced diet over the conventional high energy diets and thus, colored wheat has opened up a hidden avenue for providing additional value to the wheat-based products. Besides providing nutrition, these pigments have the potential to replace the synthetic dyes and food colorants prevalent in the market. The review summarizes the genetics and biochemistry of the pigments of colored wheat along with their product development, nutritional status and consumer preference. The review also sheds light on the environmental effect on color accumulation and the effect of increased colorants on other quality traits of wheat.

5.
Appl Biochem Biotechnol ; 194(3): 1401-1416, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34716869

RESUMO

In the ever-increasing demand of construction and construction materials worldwide, concrete is the most extensively used material for construction purposes almost next to the water. Therefore, there is a dire need of clean, green and durable concrete. Recently, an environmentally friendly strategy has been employed to manufacture bio-concrete by the usage of microorganisms in the traditional concrete to enhance its durability and compressive strength. In this review, we discuss the role of microbes in influencing the various properties of concrete such as compressive strength, flexural strength and tensile strength by reducing the concrete porosity and diminishing water absorption. The mechanism of microbial-induced calcium carbonate precipitation (MICP) in the traditional concrete by the action of microbes which resulted in the formation of bio-concrete as an improved building material has also been discussed. Additionally, an in-depth comparative analysis of the performance of bio-concrete with the traditional concrete synthesized from various industrial wastes such as silica fume, rice husk ash and metakaolin in terms of different properties such as compressive strength, flexural strength and percentage water absorption has been presented. This review highlights the impact of usage of microbes in the conventional concrete to produce novel and eco-friendly bio-concrete in construction technology.


Assuntos
Materiais de Construção
6.
Int J Biol Macromol ; 197: 88-102, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34902444

RESUMO

Small heat shock proteins as large multigene family are present ubiquitously among Archaea to Eukaryota. The sHSPs are molecular chaperones that maintain the proper protein folding and disaggregation of denatured proteins during stress conditions. In the present study, out of identified 38 sHSPs in the pigeonpea genome, the 20 are distributed across seven chromosomes while the remaining are located on unassembled scaffolds. These Cc_sHSPs are classified into 16 subfamilies. The cytoplasmic class-II is the largest sub-family with five Cc_sHSPs. The gene structure analysis revealed that Cc_sHSP genes specifically containing no or very few introns. The promoter analysis revealed the presence of various cis-acting elements responsible for developmental, biotic, and abiotic stress specific-induction of Cc_sHSPs. A total of one segmental duplication and four tandem duplication events are identified for Cc_sHSPs. The qRT-PCR based expression analysis of all 38 Cc_sHSP genes was conducted for diverse abiotic stress conditions. The Cc_sHSP genes are highly induced by heat, drought, cold, and salt stresses indicating a key role in mitigating the various abiotic stress responses. The divergence time of paralogous Cc_sHSPs ranged from 8.66 to 191.82 MYA. The present study can be a strong basis for the functional characterization of Cc_sHSPs.


Assuntos
Proteínas de Choque Térmico Pequenas
7.
Physiol Mol Biol Plants ; 27(10): 2165-2179, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34744359

RESUMO

Weed competitive ability of a crop is one of the most widely explored aspects in the current scenario of aftermaths of synthetic herbicides such as herbicide resistant weeds emergence, residue accumulation in trophic levels; increased demands of organic produce, global climatic shifts, and other environmental issues. Further weed infestations are known to cause much more economic losses relative to crop attacks by pests. To understand the basic characteristics and underlying processes governing the competitive ability of a crop is therefore prudent, particularly in staples such as wheat. We discuss here an overview of the existing attributes of wheat-weed environment, the significance of crop competitiveness and various associated above-ground and below-ground traits (pertaining to early seed vigor and early seedling germination) discerned through biological, classical genetics and high throughput omics toolbox to provide numerous resources in terms of genome and transcriptome sequences, potential QTLs, genetic variation, molecular markers, association mapping studies, and others. Competitiveness is a cumulative response manifested as morphological, physiological, biochemical or allelochemical response ultimately driven through genetic architecture of a crop and its interaction with environment. Development of wheat competitive cultivar thus requires interdisciplinary approaches and germplasm screening to identify potential donors for competitiveness is an attractive and feasible alternative. For which utilization of landraces and other wild species, already proven to house sufficient genetic heterogeneity, thus poses a competitive advantage. Further, the availability of novel breeding techniques such as rapid generation advance could speed up the development of competitive wheat ideotype.

8.
Gastroenterol Res Pract ; 2021: 8910004, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34373691

RESUMO

BACKGROUND: Coronavirus Disease 2019 (COVID-19) has affected many facets of the practice of medicine including screening colonoscopies. AIMS: Our study looks to observe if there has been an effect on the quality of colonoscopies, as indicated by quality measures such as the cecal intubation rate (CIR), cecal intubation time (CIT), scope withdrawal time (SWT), and adenoma detection rate (ADR) with the adoption of standard COVID-19 precautions. METHODS: We conducted a retrospective chart review to analyze the effects of the COVID-19 pandemic on screening colonoscopies. The study utilized data on CIR, CIT, SWT, and ADR from outpatient, nonemergent procedures conducted at 3 endoscopy suites of St. Luke's University Health Network. All inpatient and emergent procedures were excluded. RESULTS: Our study demonstrated that the total number of screening colonoscopies was decreased between 2019 and 2020 (318 in 2019 vs. 157 in 2020, p = 0.005). CIT (320 ± 105 seconds in 2019 vs. 392 ± 107 seconds in 2020, p = 0.001) and SWT (706 ± 232 seconds in 2019 vs. 830 ± 241 seconds in 2020, p = 0.001) were increased while CIR (98.2% in 2019 vs. 96.6% in 2020, p = 0.04) was decreased between 2019 and 2020 likely due to PPE introduction. ADR was similar between the two groups (38.23 (12.50-66.66) in 2019 vs. 38.18 (16.66-66.00) in 2020, p = 0.8). CONCLUSION: Our study showed that quality indices for screening colonoscopies like CIR, CIT, and SWT were negatively impacted during the COVID-19 time period. ADR, however, was similar. Thus, the efficiency of the procedures was affected by the use of PPE but it did not affect the colonoscopy's clinical benefit.

9.
Physiol Mol Biol Plants ; 27(6): 1205-1218, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34220041

RESUMO

Heat shock protein (HSP101) function as molecular chaperones and confer thermotolerance to plants. In the present investigation, identification, comprehensive expression analysis, phylogeny and protein modelling of HSP101 gene has been done in Aegilops speltoides accession Pau3583. In the present study, we cloned and in silico characterized a HSP101C gene designated as AsHSP101C-Pau3583. AsHSP101C-Pau3583 is 4180 bp long with seven exons and six introns and encoded a polypeptide of 910 amino acids predicted by FGENESH. We have identified 58 SNPs between the AsHSP101C-Pau3583 and reference gene sequence extracted from Ae. speltoides TGAC assembly. Real-time RT-PCR analysis of expression levels of HSP101 gene in two wheat genotypes under heat stress revealed that gene namely HSP101C was up-regulated in Aegilops speltoides acc. Pau3583 by > fourfold in comparison to Triticum aestivum cv. PBW343 under heat stress signifies that it plays a role in conferring heat tolerance. Sequence comparison and phylogenetic analysis of AsHSP101C-Pau3583 with seven wheat homologs Triticum aestivum, Aegilops speltoides (TGAC), Triticum durum cv Cappelli, Triticum durum cv Strongfield, Triticum monococcum, Aegilops tauschii and Triticum urartu showed significant similarities with highly conserved coding regions and functional domains (AAA, AAA + 2, ClpB domains), suggesting the conserved function of HSP101C in different species. The illustration of the protein models of HSP101C in homologs provided information for the ATP-binding motifs within the nucleotide binding domains (NBD), specific for the chaperone activity. These findings are important and identified SNPs could be used for designing markers for ensuring the transfer of AsHSP101C-Pau3583 gene into hexaploid wheat and its role in heat tolerance. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12298-021-01005-2.

10.
Plant Cell Rep ; 40(5): 881-898, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33837822

RESUMO

KEY MESSAGE: Comparative transcriptome analyses accompanied by biochemical assays revealed high variability in heat stress response in Cajanus species. Among the studied species, C. scarabaeoides was the most thermotolerant followed by C. cajanifolius, C. cajan, and C. acutifolius. Pigeonpea is one of the climate-resilient grain legumes. Though the optimum temperature for cultivated pigeonpea is ~ 25-35 °C, its wild relatives grow in temperatures ranging between 18 and 45 °C. To gain insight into molecular mechanisms responsible for the heat stress tolerance in pigeonpea, we conducted time-series transcriptome analysis of one pigeonpea cultivar (Cajanus cajan) and two wild relatives, Cajanus acutifolius, and Cajanus scarabaeoides subjected to heat stress at 42 ± 2 ºC for 30 min and 3 h. A total of 9521, 12,447, and 5282 identified transcripts were differentially expressed in C. cajan, C. acutifolius, and C. scarabaeoides, respectively. In this study, we observed that a significant number of genes undergo alternative splicing in a species-specific pattern during heat stress. Gene expression profiling analysis, histochemical assay, chlorophyll content, and electrolyte leakage assay showed that C. scarabaeoides has adaptive features for heat stress tolerance. The gene set enrichment analyses of differentially expressed genes in these Cajanus species during heat stress revealed that oxidoreductase activity, transcription factor activity, oxygen-evolving complex, photosystem-II, thylakoid, phenylpropanoid biosynthetic process, secondary metabolic process, and flavonoid biosynthetic process were highly affected. The histochemical assay showed more lipid peroxidation in C. acutifolius compared to other Cajanus species inferring the presence of higher quantities of polyunsaturated fatty acids in the plasma membrane which might have led to severe damage of membrane-bound organelles like chloroplast, and high electrolyte leakage during heat stress. This study paves the way for the identification of candidate genes, which can be useful for the development of thermo-tolerant pigeonpea cultivars.


Assuntos
Transcriptoma/genética , Cajanus/genética , Perfilação da Expressão Gênica , Genes de Plantas/genética , Genótipo , Peroxidação de Lipídeos/genética , Peroxidação de Lipídeos/fisiologia
11.
Am J Gastroenterol ; 116(Suppl 1): S17, 2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37461982

RESUMO

BACKGROUND: Inflammatory Bowel Disease (IBD) is a chronic gastrointestinal inflammatory condition and has been increasing in prevalence in the United States, with a 30-40% increase over the past few decades. Osteoporosis can be seen in up to 40% of IBD patients. Screening for osteoporosis in IBD patients involves the use of DEXA scans and is recommended by the IBD Cornerstone Committee for select patients, including steroid use > 3 months consecutively or a total of 1 year in the past 2 years, family history of osteoporosis, malnutrition, amenorrheic or post-menopausal. Our quality improvement study looked to improve osteoporosis screening among gastroenterologists. METHODS: We conducted a retrospective chart review on all IBD patients within the St. Luke's Network and extrapolated data on age (>50 in male and >65 in female), sex, chronic glucocorticoid use (3 month consecutively or cumulative), osteoporosis/osteopenia diagnosis, vitamin D (vit-D) levels, and DEXA scan between 2019 to 2021. We gave a 5-minute presentation on current DEXA screen recommendations for patients with IBD on 5/27/2021 to all the network's gastroenterologists, which totaled 12. We performed a pre and post education survey consisting of 5 questions on provider knowledge and comfortability with osteoporosis screening. We assessed provider knowledge, as well as rates of osteoporosis screening. All statistical analyses were conducted in IBM SPSS for Windows Version 26. Chi Square tests were used to compare two groups in categorical variables while Mann-Whitney tests were done to compare continuous variables like age and vit-D levels. RESULTS: There were a total of 5442 patients; 3927 patients before the educational intervention on 5/27/2021 and 1515 patients after the intervention. Both pre and post intervention groups were balanced in terms of age, gender, smoking status, and alcohol risk. Percent of DEXA scans were similar between both groups (13.0% vs 12.3%, p=0.5). DEXA screening rates among patients with chronic steroid use pre-intervention vs post-intervention was 44.45 vs 42.4% respectively. Vit-D levels compared between both groups was not statistically significant (30.5 vs 31.8, p=0.1). Surveys conducted before and after the intervention showed an overall increase in percentage of agreement responses about knowledge and confidence in DEXA screening (88.5% vs 97.5%). CONCLUSION: DEXA scanning can help detect premature decrease in bone mineral density and provide physicians with the opportunity to prevent further morbidity. Our study showed no difference in DEXA screening rates before and after intervention. However, there was an increase in provider knowledge based on post-intervention surveys. A similar study showed that it took three interventions, including educational presentation, flyers, and on screen EMR reminders for there to be a sustainable improvement in the rate of DEXA screening. Our project may have required additional interventions to produce an effect and thus reinforces the need for further efforts to improve osteoporosis screening in IBD patients.

12.
Mol Biol Rep ; 47(3): 1991-2003, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32034627

RESUMO

Diploid A genome wheat species harbor immense genetic variability which has been targeted and proven useful in wheat improvement. Development and deployment of sequence-based markers has opened avenues for comparative analysis, gene transfer and marker assisted selection (MAS) using high throughput cost effective genotyping techniques. Chromosome 2A of wheat is known to harbor several economically important genes. The present study aimed at identification of genic sequences corresponding to full length cDNAs and mining of SSRs and ISBPs from 2A draft sequence assembly of hexaploid wheat cv. Chinese Spring for marker development. In total, 1029 primer pairs including 478 gene derived, 501 SSRs and 50 ISBPs were amplified in diploid A genome species Triticum monococcum and T. boeoticum identifying 221 polymorphic loci. Out of these, 119 markers were mapped onto a pre-existing chromosome 2A genetic map consisting of 42 mapped markers. The enriched genetic map constituted 161 mapped markers with final map length of 549.6 cM. Further, 2A genetic map of T. monococcum was anchored to the physical map of 2A of cv. Chinese Spring which revealed several rearrangements between the two species. The present study generated a highly saturated genetic map of 2A and physical anchoring of genetically mapped markers revealed a complex genetic architecture of chromosome 2A that needs to be investigated further.


Assuntos
Mapeamento Cromossômico/métodos , Cromossomos de Plantas/genética , Locos de Características Quantitativas , Triticum/genética , Diploide , Sequenciamento de Nucleotídeos em Larga Escala , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Poliploidia , Análise de Sequência de DNA
13.
Indian J Palliat Care ; 26(4): 528-530, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33623317

RESUMO

BACKGROUND: Palliative care is comprehensive care that provides symptomatic relief and enhances the quality of life for people experiencing serious health-related suffering. There is an increasing need for palliative care services in India. Estimates for population requiring these services are essential in order to meet the increasing need for palliative care services. OBJECTIVES: The objective was to assess the proportion of population requiring and receiving palliative care services. MATERIALS AND METHODS: A descriptive cross-sectional research design was adopted for the study. The study was carried out in the village, Dhanas, Chandigarh. All the residents residing in the selected rural area were included in the study. Tools used for data collection were a screening questionnaire consisting of three questions, a sociodemographic sheet, a clinical profile, the Barthel Index of activities of daily living (ADL), and a pain rating scale. Analysis of the data was done using SPSS version 19 (IBM SPSS Statistics for Windows, Version 19.0.: IBM Corp). RESULTS: A total of 10,021 people from 884 households were screened in the study. The results revealed that the prevalence of need for palliative care services was 2/1000 population. None of the 19 participants with unmet palliative care needs were receiving any home- or institutional-based palliative care services at the time of assessment. Nearly, one-fourth of the participants had total dependency on caregivers for ADL. CONCLUSION: The study concluded that there is a need of palliative care services in the studied rural community of Chandigarh. These data can be used for planning and implementing community-based palliative care services in the studied area.

15.
BMC Plant Biol ; 18(1): 141, 2018 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-29986650

RESUMO

BACKGROUND: Water permeability governed by seed coat is a major facet of seed crops, especially soybean, whose seeds lack physiological dormancy and experience rapid deterioration in seed viability under prolonged storage. Moreover, the physiological and chemical characteristics of soybean seeds are known to vary with seed coat color. Thus, to underpin the genes controlling water permeability in soybean seeds, we carried out an in-depth characterization of the associated genomic variation. RESULTS: In the present study, we have analyzed genomic variation between cultivated soybean and its wild progenitor with implications on seed permeability, a trait related to seed storability. Whole genome resequencing of G.max and G. soja, identified SNPs and InDels which were further characterized on the basis of their genomic location and impact on gene expression. Chromosomal density distribution of the variation was assessed across the genome and genes carrying SNPs and InDels were characterized into different metabolic pathways. Seed hardiness is a complex trait that is affected by the allelic constitution of a genetic locus as well as by a tricky web of plant hormone interactions. Seven genes that hold a probable role in the determination of seed permeability were selected and their expression differences at different stages of water imbibition were analyzed. Variant interaction network derived 205 downstream interacting partners of 7 genes confirmed their role in seed related traits. Interestingly, genes encoding for Type I- Inositol polyphosphate 5 phosphatase1 and E3 Ubiquitin ligase could differentiate parental genotypes, revealed protein conformational deformations and were found to segregate among RILs in coherence with their permeability scores. The 2 identified genes, thus showed a preliminary association with the desirable permeability characteristics. CONCLUSION: In the light of above outcomes, 2 genes were identified that revealed preliminary, but a relevant association with soybean seed permeability trait and hence could serve as a primary material for understanding the molecular pathways controlling seed permeability traits in soybean.


Assuntos
Glycine max/genética , Mutação INDEL/genética , Polimorfismo de Nucleotídeo Único/genética , Sementes/metabolismo , Cromossomos de Plantas/genética , Genes de Plantas/genética , Genes de Plantas/fisiologia , Estudo de Associação Genômica Ampla , Mutação INDEL/fisiologia , Permeabilidade , Polimorfismo de Nucleotídeo Único/fisiologia , Glycine max/metabolismo , Glycine max/fisiologia
16.
Front Plant Sci ; 8: 2164, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29312405

RESUMO

Exome sequencing represents targeted capture and sequencing of 1-2% of 'high-value genomic regions' (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions. We discuss here an overview of exome sequencing, ways to approach plant exomes, and advantages and applicability of this powerful approach in deciphering functional regions of genomes. Though initially this approach was developed as an alternative to whole genome sequencing (WGS), but the multitude of benefits conferred by sequence capture via hybridization approaches created a niche for itself to solve many of biological riddles, particularly for resolving phylogenetic distances. The technique has also proved to be successful in understanding the basis of natural and induced molecular variation, marker development and developing genomic resources for complex, wild and non-model species, which are still intractable for WGS efforts. Thus, with profound applications of this powerful sequencing strategy, near future is expected to witness a collective expansion of both techniques, i.e., sequence capture via hybridization for evolutionary and ecological research and WGS approaches for its universal accessibility.

17.
J Clin Diagn Res ; 8(2): 145-6, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24701510

RESUMO

Alveolar soft part sarcoma (ASPS) is a rare neoplasm of unknown histogenesis with poor prognosis. Due to the epithelioid appearance of the neoplastic cells, ASPS may resemble many neoplastic conditions, such as metastatic epithelial cell tumours with clear cell change, metastatic renal cell carcinoma, granular cell tumour, epithelioid sarcoma, malignant melanoma and even paragangliomas. Presence of abundant, rod like crystals in the cytoplasm of tumour cells is an important finding characteristic of this tumour, which helps in differentiating it from the other entities. The case study highlights the importance of correlating cytological features that help in reaching the diagnosis such as the background, cell morphology and presence of characteristic rod shaped crystals as immunohistochemical studies are often non-conclusive. The case also is unique as it demonstrates presence of intra-cytoplamic crystals in such abundance.

18.
J Clin Diagn Res ; 7(6): 1051-4, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23905101

RESUMO

BACKGROUND: To achieve the standardization of the thyroid FNA reporting, the National Cancer Institute (NCI) hosted the "NCI Thyroid Fine Needle Aspiration State of the Science Conference", which led to the formation of 'The Bethesda System for Reporting Thyroid Cytopathology' (TBSRTC). MATERIAL AND METHODS: The present study was undertaken by 2 experts in thyroid FNA, who in a double blinded fashion, examined and re-classified 80 random FNA cases according to the 6 levels of TBSRTC for an inter-observer review, to study and assess the new terminology for ease of reproducibility and to note the rate of disagreement overall or in any particular category. The FNAs were reclassified in a double blinded fashion according to the 6 levels of TBSRTC which are: non diagnostic (ND); benign; atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS); follicular neoplasm/suspicious for a follicular neoplasm (FN/SFN), Hurthle cell type/suspicious for a follicular neoplasm, Hurthle cell type (FNHCT/SFNHCT); suspicious (SUS), and malignant. RESULTS: In the present study, the maximum number of cases was reclassified under the benign category (61.25% cases), followed by the FN/ SFN category and the AUS/FLUS category (11.25% and 10.00% respectively). An agreement was reached in 66 cases (82.5%); the experts disagreed in 14 cases-17.5% (where 1 expert did not agree with the other). Individually; a 93.87% agreement was noted for the lesions in the benign category, for 50% lesions in the AUS/FLUS category, for 66.66% lesions in the FN/SFN and the SUS categories, for 71.42% lesions in the FNHCT/ SFNHCT categories and for 100% lesions in the ND and the malignant categories. Thus, the maximum disagreement was noted in the AUS/FLUS category. CONCLUSION: The implementation of TBSTRC which stands for a unique, international and a universal terminology for reporting the thyroid cytology; should be encouraged in our country, because of its relative ease of reproducibility. Although there was a great deal of agreement in implementing TBSTRC in the present study; disagreements were seen in the categories of AUS/FLUS and FN/SFN in the study which was conducted at our centre. This corroborated with the findings of the studies which were done elsewhere.

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