Relevant bibliographies by topics / Phenotypic Spectrum

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  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
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Academic literature on the topic 'Phenotypic Spectrum'

Author: Grafiati
Published: 4 June 2025
Last updated: 23 June 2025

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Journal articles on the topic "Phenotypic Spectrum"

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Kloth, Katja, Bernarda Lozic, Julia Tagoe, et al. "ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants." neurogenetics 22, no. 4 (2021): 263–69. http://dx.doi.org/10.1007/s10048-021-00655-4.

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AbstractANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused by isoform-dependent, autosomal-dominant, or autosomal-recessive loss-of-function variants. Here, we present four individuals affected by a variable neurodevelopmental phenotype harboring a heterozygous frameshift or nonsense variant affecting all ANK3 transcripts. Thus, we provide further evidence of an isoform-based phenotypic continuum underlying ANK3-associated pathologies and expand its phenotypic spectrum.
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Leoni, Chiara, Marta Tedesco, Francesca Clementina Radio, et al. "Broadening the phenotypic spectrum of Beta3GalT6 ‐associated phenotypes." American Journal of Medical Genetics Part A 185, no. 10 (2021): 3153–60. http://dx.doi.org/10.1002/ajmg.a.62399.

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Havrilla, James Margolin, Mengge Zhao, Cong Liu, et al. "Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records." Genes 12, no. 8 (2021): 1159. http://dx.doi.org/10.3390/genes12081159.

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Human genetic disorders, such as Down syndrome, have a wide variety of clinical phenotypic presentations, and characterizing each nuanced phenotype and subtype can be difficult. In this study, we examined the electronic health records of 4095 individuals with Down syndrome at the Children’s Hospital of Philadelphia to create a method to characterize the phenotypic spectrum digitally. We extracted Human Phenotype Ontology (HPO) terms from quality-filtered patient notes using a natural language processing (NLP) approach MetaMap. We catalogued the most common HPO terms related to Down syndrome patients and compared the terms with those from a baseline population. We characterized the top 100 HPO terms by their frequencies at different ages of clinical visits and highlighted selected terms that have time-dependent distributions. We also discovered phenotypic terms that have not been significantly associated with Down syndrome, such as “Proptosis”, “Downslanted palpebral fissures”, and “Microtia”. In summary, our study demonstrated that the clinical phenotypic spectrum of individual with Mendelian diseases can be characterized through NLP-based digital phenotyping on population-scale electronic health records (EHRs).
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Johannesen, Katrine, Carla Marini, Siona Pfeffer, et al. "Phenotypic spectrum of GABRA1." Neurology 87, no. 11 (2016): 1140–51. http://dx.doi.org/10.1212/wnl.0000000000003087.

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Nishimura, Gen, Nobuhiko Haga, Hiroshi Kitoh, et al. "The phenotypic spectrum ofCOL2A1mutations." Human Mutation 26, no. 1 (2005): 36–43. http://dx.doi.org/10.1002/humu.20179.

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Zhang, Yue-Hua, Rosemary Burgess, Jodie P. Malone, et al. "Genetic epilepsy with febrile seizures plus." Neurology 89, no. 12 (2017): 1210–19. http://dx.doi.org/10.1212/wnl.0000000000004384.

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Objective:Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum.Methods:We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS+ genes was carried out where possible. We compared our phenotypic and genetic data to those published in the literature over the last 19 years.Results:We identified new phenotypes within the GEFS+ spectrum: focal seizures without preceding febrile seizures (16/409 [4%]), classic genetic generalized epilepsies (22/409 [5%]), and afebrile generalized tonic-clonic seizures (9/409 [2%]). Febrile seizures remains the most frequent phenotype in GEFS+ (178/409 [44%]), followed by febrile seizures plus (111/409 [27%]). One third (50/163 [31%]) of GEFS+ families tested have a pathogenic variant in a known GEFS+ gene.Conclusion:As 37/409 (9%) affected individuals have focal epilepsies, we suggest that GEFS+ be renamed genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus. The phenotypic overlap between GEFS+ and the classic generalized epilepsies is considerably greater than first thought. The clinical and molecular data suggest that the 2 major groups of generalized epilepsies share genetic determinants.
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Yoshioka, Mieko. "Phenotypic spectrum of Fukutinopathy: Most severe phenotype of Fukutinopathy." Brain and Development 31, no. 6 (2009): 419–22. http://dx.doi.org/10.1016/j.braindev.2008.07.012.

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Kröger, Cornelia, Alexander Afeyan, Jasmin Mraz, et al. "Acquisition of a hybrid E/M state is essential for tumorigenicity of basal breast cancer cells." Proceedings of the National Academy of Sciences 116, no. 15 (2019): 7353–62. http://dx.doi.org/10.1073/pnas.1812876116.

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Carcinoma cells residing in an intermediate phenotypic state along the epithelial–mesenchymal (E–M) spectrum are associated with malignant phenotypes, such as invasiveness, tumor-initiating ability, and metastatic dissemination. Using the recently described CD104+/CD44hi antigen marker combination, we isolated highly tumorigenic breast cancer cells residing stably—both in vitro and in vivo—in an intermediate phenotypic state and coexpressing both epithelial (E) and mesenchymal (M) markers. We demonstrate that tumorigenicity depends on individual cells residing in this E/M hybrid state and cannot be phenocopied by mixing two cell populations that reside stably at the two ends of the spectrum, i.e., in the E and in the M state. Hence, residence in a specific intermediate state along the E–M spectrum rather than phenotypic plasticity appears critical to the expression of tumor-initiating capacity. Acquisition of this E/M hybrid state is facilitated by the differential expression of EMT-inducing transcription factors (EMT-TFs) and is accompanied by the expression of adult stem cell programs, notably, active canonical Wnt signaling. Furthermore, transition from the highly tumorigenic E/M state to a fully mesenchymal phenotype, achieved by constitutive ectopic expression of Zeb1, is sufficient to drive cells out of the E/M hybrid state into a highly mesenchymal state, which is accompanied by a substantial loss of tumorigenicity and a switch from canonical to noncanonical Wnt signaling. Identifying the gatekeepers of the various phenotypic states arrayed along the E–M spectrum is likely to prove useful in developing therapeutic approaches that operate by shifting cancer cells between distinct states along this spectrum.
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Finsterer, Josef, and Sinda Zarrouk-Mahjoub. "Phenotypic Spectrum of SBF2 Mutations." Open Access Journal of Internal Medicine 2, no. 1 (2019): 34–35. http://dx.doi.org/10.22259/2638-5279.0201004.

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Kruijt, Charlotte C., Gerard C. de Wit, Arthur A. Bergen, Ralph J. Florijn, Nicoline E. Schalij-Delfos, and Maria M. van Genderen. "The Phenotypic Spectrum of Albinism." Ophthalmology 125, no. 12 (2018): 1953–60. http://dx.doi.org/10.1016/j.ophtha.2018.08.003.

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Dissertations / Theses on the topic "Phenotypic Spectrum"

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ANNUNZIATA, SILVIA. "Genetic and phenotypic characterization of Autism Spectrum Disorders." Doctoral thesis, Università degli studi di Pavia, 2022. http://hdl.handle.net/11571/1452943.

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Svärd, Louise. "Evaluation of phenotypic and genotypic extended-spectrum beta-lactamase detection methods." Thesis, Uppsala University, Department of Medical Biochemistry and Microbiology, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8021.

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<p>The emergence and spread of resistance in Enterobacteriaceae is a growing concern in human medicine today. Enterobacteriaceae producing extended-spectrum β-lactamases (ESBLs) have become efficient at inactivating β-lactam antibiotics especially the newer third generation cephalosporins. In addition, ESBL producing Enterobacteriaceae are frequently resistant to other groups of commonly used non-β-lactam antibiotics such as the fluoroquinolones. Reliable, rapid and low cost methods to detect ESBLs in clinical microbiology laboratories are therefore required.</p><p>The aim of this project was to evaluate the phenotypic and genotypic detection methods for ESBLs and to examine the optimum antimicrobial agent(s) for ESBL detection. A comparison with the CLSI susceptibility test and the ESBL screen test was performed using a number of clinical isolates of E. coli and Klebsiella spp. suspected to contain ESBLs. Two confirmatory tests, the double disc synergy test and the combination disc test for ESBLs were also compared. Single and multiplex PCR assays were established using primers for the TEM-, SHV- and OXA-type β-lactamases. The results of this study show that ESBL screening is required in routine laboratories for successful detection of ESBLs. The best indicator cephalosporin for detection of ESBLs in E. coli was cefpodoxime whilst the best indicators for detection of ESBLs in K. pneumoniae were cefpodoxime and ceftazidime. The combination disc confirmatory test demonstrated the highest rate of detection. The multiplex PCR assay was found to be a rapid and cost-effective method for ESBL detection. However, nucleotide sequencing is required to confirm ESBL production amongst these organisms.</p>
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Mehta, Ameeta. "Phenotypic spectrum of patients with congenital disorders of the hypothalamo-pituitary axis." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1444891/.

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Mutations within the cascade of pituitary transcription factors that play a crucial role in its development and differentiation have improved our understanding of variable hypopituitarism in children. The diagnosis of hypopituitarism is problematic as it is dependent on a series of endocrine tests varying in sensitivity and specificity, compounded by evolving hormonal deficiencies. In order to test the hypothesis that human phenotypes are determined by the neuroanatomy which is further influenced by the position of the abnormal gene within the pituitary developmental cascade, clinical, biochemical, magnetic resonance MR imaging and molecular data were retrospectively analysed in subgroups from a cohort of 825 patients with variable hypothalamo-pituitary H-P abnormalities. The major aims were to determine abnormalities on MR imaging that help predict the spectrum of hypopituitarism, to assess if genotype determined phenotype and to ascertain the optimum test for diagnosis of hormone deficiency. Results showed good structure-function relationships within the H-P axis. Anterior pituitary hypoplasia and an undescended posterior pituitary were 6.7 and 33.1 times more prevalent in patients with hypopituitarism as compared with those without. These abnormalities were also significantly associated with endocrinopathies in patients with optic nerve hypoplasia. Within patients with hypopituitarism, midline forebrain defects MFD and pituitary stalk abnormalities were found to be significantly associated with combined pituitary hormone deficiency as opposed to isolated GH deficiency. GH was critical for early postnatal growth, which was also influenced by other pituitary hormones and MFD. Regular evaluation of serum thyroxine concentration best revealed TSH deficiency, as the TRH test was normal in 23% of patients with central hypothyroidism limiting its role as a diagnostic test. A combination of the short Synacthen test and 0800-hour serum Cortisol concentrations represented the optimal method of investigation for ACTH deficiency. The LHRH test in infancy needs careful interpretation, as responses were gender-specific with significantly exaggerated serum FSH concentrations in females. There was a poor genotype-phenotype correlation, particularly in patients with mutations in HESX1, PROP and SOX3, both within and between pedigrees, indicating a role for other genetic or environmental factors on phenotypic expression.
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Ibrahim, Delveen. "Phenotypic and genotypic study of multidrug resistant, extended spectrum β-lactamase (ESBL)-producing Escherichia coli isolated from a dairy farm". Thesis, University of Nottingham, 2017. http://eprints.nottingham.ac.uk/46613/.

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Approximately 400 tonnes of antibiotics (including synthetic antibiotics) are used every year in treating infections in farm animals, and as prophylactics against infection. Antimicrobial resistance is a crucial problem that is now of great concern in public health, with food and food producing animals as a potential route for spread of these resistances, especially resistance to cephalosporins, which is increasing. The main aim of this study was to determine the prevalence and range of multidrug resistance (MDR) and extended spectrum β-lactamase (ESBL) or ampicillin C (AmpC) β-lactamase producing Escherichia coli within a commercial dairy farm, to understand the diversity of resistance to β-lactam antibiotics, and to determine if co-carriage of other antimicrobial resistance (AMR) was associated with ESBL/AmpC producers. This would allow a better understanding of the contributions that farms and farm slurry may make to the presence of AMR in the environment, and the reservoir of resistance in agriculture. In this study, E. coli strains were isolated from a single dairy farm (East Midlands, England, United Kingdom) on two visits, a preliminary isolation using TBX agar in 2012 and more targeted isolation using antibiotic supplemented TBX media in 2014. Confirmed E. coli (126 out of 155 selected strains) were genotyped using ERIC-PCR and analysis of the ERIC profiles showed that, in comparison to the 2014 isolates, the 2012 isolates were a quite distinct genetic population. Antimicrobial sensitivity tests were performed using a disk diffusion test for all the strains against 17 antimicrobials representing seven different antimicrobial groups: β-lactams, aminoglycosides, tetracyclines, sulphonamides, chloramphenicols, nitrofuran derivatives and quinolones. Antimicrobial resistance profiling showed 92% of isolates showed resistance to at least 1 antimicrobial, of which 27.8% of the isolates were isolated without antibiotic selection, and 57.9% of the isolates were multidrug resistant to between 3 and 15 antimicrobials, of which 43.6% of the isolates were isolated using antibiotic supplemented media. Two strains showed resistance to imipenem which appeared to be an unstable phenotype and was subsequently lost. The finding was unexpected and of concern as imipenem is not used in veterinary medicine. blaCTX-M, blaTEM and blaOXA genes were detected by PCR among the cephalosporin resistant strains. No plasmid ampC genes were detected. Four strains were fully sequenced and the genetic/genomic environment surrounding β-lactamase genes and analysis of some other AMR genes showed these genes are associated with transposable elements, such as ISEcp1, ISCR2, IS26-IS26, Tn2, Tn10 or within a class I integron carried by a Tn-21 like transposon. The association of AMR genes with these transposable elements might make the dissemination rate of these genes greater. Some of the insertion sequence-AMR gene combinations are thought to be novel, such as the unique insertion of ISEcp1- blaCTX_M14 unit into the fdeC chromosomal gene. This is the first study of this type performed on this dairy farm; the data showed a diverse range of resistance genes present in the E. coli population in the farm, including resistance to historically used antimicrobials as well as cephalosporins in contemporary use, and a high level of multidrug resistance. The spread of such highly resistant strains to the environment and possibly to humans could present a real threat to human health especially if they are pathogenic.
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Baiardi, Simone <1985&gt. "Effect of host genotype and prion strain on the phenotypic heterogeneity of Creutzfeldt-Jakob disease: the peripheral nervous system involvement and the spectrum of the genetic form." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2019. http://amsdottorato.unibo.it/9097/1/baiardi_simone_tesi.pdf.

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The first study was designed to assess whether the involvement of the peripheral nervous system (PNS) belongs to the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease (sCJD). To this aim, we reviewed medical records of 117 sCJDVV2, 65 sCJDMV2K, and 121 sCJDMM(V)1 subjects for symptoms/signs and neurophysiological data. We looked for the presence of PrPSc in postmortem PNS samples from 14 subjects by western blotting and real-time quaking-induced conversion (RT-QuIC) assay. Seventy-five (41.2%) VV2-MV2K patients, but only 11 (9.1%) MM(V)1, had symptoms/signs suggestive of PNS involvement and neuropathy was documented in half of the VV2-MV2K patients tested. RT-QuIC was positive in all PNS samples, whereas western blotting detected PrPSc in the sciatic nerve in only one VV2 and one MV2K. These results support the conclusion that peripheral neuropathy, likely related to PrPSc deposition, belongs to the phenotypic spectrum of sCJDMV2K and VV2, the two variants linked to the V2 strain. The second study aimed to characterize the genetic/molecular determinants of phenotypic variability in genetic CJD (gCJD). To this purpose, we compared 157 cases of gCJD to 300 of sCJD. We analyzed: demographic aspects, neurological symptoms/signs, histopathologic features and biochemical characteristics of PrPSc. The results strongly indicated that the clinicopathological phenotypes of gCJD largely overlap with those of sCJD and that the genotype at codon 129 in cis with the mutation (i.e. haplotype) contributes more than the latter to the disease phenotype. Some mutations, however, cause phenotypic variations including haplotype-specific patterns of PrPSc deposition such as the “dense” synaptic pattern (E200K-129M), the intraneuronal dots (E200K-129V), and the linear stripes perpendicular to the surface in the molecular layer of cerebellum (OPRIs-129M). Overall, these results suggest that in gCJD PRNP mutations do not cause the emergence of novel prion strains, but rather confer increased susceptibility to the disease in conjunction with “minor” clinicopathological variations.
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Carpita, Barbara. "INVESTIGATING BIOCHEMICAL MARKERS OF ADULT AUTISM SPECTRUM DISORDER PHENOTYPES." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1194483.

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Background: Recently, in the framework of a dimensional approach to autism-related psychopathology, increasing attention has been paid on investigating specific features of Autism spectrum disorder (ASD) during adulthood. Particular interest was paid on milder forms of ASD, without intellectual and language impairment, which may remain under-detected in early life. Moreover, several reports highlighted the presence of significant autistic-like traits in non-affected first-relatives of subjects with ASD, leading to the conceptualization of a “Broad autism phenotype” (BAP). Despite an increasing body of data from neuroimaging studies reported neurostructural and neurofunctional alterations in BAP, there is still a lack of evidence about potential biochemical correlates of ASD-like traits. The first attempts in researching biochemical markers of ASD focused on neurotransmitters and in particular on serotonin (5-HT), reporting possible different alterations between adulthood and childhood and/or between different kinds of biological samples. Brain-derived neurotrophic factor (BDNF), tryptophan (TRP), and metabolites of the TRP-derived kynurenine (KYN) shunt were also found altered in ASD children, and authors hypothesized their possible involvement in increased excitotoxicity or inflammatory activity. Other research also reported immune system activation among ASD children: results in this field seem promising, with studies stressing an association of cytokine levels with different grades of clinical severity and specific clusters of symptoms. Moreover, altered homocysteine (HCY) metabolism and altered trans-sulfuration and methylation processes are acquiring growing interest as possible metabolic signatures of ASD. Despite that, for most of these parameters scant research focused on adult samples and/or on BAP, without studies comparing adult ASD patients with their adult relatives. Aims: The aim of this work was to identify possible biochemical correlates for sub-threshold and over-threshold ASD symptomatology in adults. In particular, the study aimed to: evaluate presence and features of ASD symptoms in adult ASD patients without language or intellectual impairment and their first-degree relatives, as well as in controls, through suitable psychometric scales; evaluate levels of various biochemical parameters, among the three groups, and in particular: circulating levels of 5-HT, TRP, KYN, quinolinic acid (QA), chinurenic acid (KYNA), BDNF, IL-6, HCY; evaluate the possible correlations between clinical features, as measured by the psychometric scales, and biochemical parameters. Methods: A sample of adult ASD patients (ASD group) and first-degree relatives of the ASD probands (BAP group) were recruited among patients followed at the Psychiatric Section of Azienda Ospedaliera Universitaria Pisana, whereas unrelated controls (CTL group) were recruited on a voluntary basis. All subjects underwent a psychiatric and biochemical assessment. The psycometric instruments employed were: the Structured Clinical Interview for DSM-5, the Adult Autism Sub-threshold Spectrum (AdAS Spectrum), the Autism-Spectrum Quotient (AQ), the Ritvo Autism Asperger Diagnostic Scale,14-item version (RAADS-14), the Ruminative Response Scale (RRS) as well as the Work and Social Adjustment Scale (WSAS). A sample of peripheral venous blood was withdrawn from all the subjects and then processed for obtaining the different analytical specimen for biochemical assessment: the platelet poor plasma (PPP), platelet pellets and serum. All these parameters were measured by means of dedicated Enzyme-linked immunosorbent assay (ELISA) procedures. Results: ASD patients reported significantly higher total scores (greater severity of autistic traits/functional impairment) than the other groups on all psychometric scales. The BAP group reported intermediate scores, significantly higher than the CTL group. At the same time ASD patients reported significantly lower intra-platelet 5-HT, PPP 5-HT and TRP levels than BAP and CTL groups. Significant differences depending on pharmacological treatment within groups were reported for intra-platelet 5-HT levels only, and no difference in intra-platelet 5-HT was found when exluding subjects in treatment with antidepressants from the analysis. Moreover, significantly lower levels of KYNA were reported in both ASD and BAP group when compared with CTL subjects. IL-6 and HCY were instead significantly higher in the ASD group than in the CTL one, with BAP group showing intermediate levels, not significantly different from those reported in the other two groups. A multinomial logistic regression analysis identified higher levels of HCY and IL-6 as the statistically predictive variables of being in the ASD group, while increased IL-6 was statitstically predictive also of being in the BAP group. Specific patterns of association were found between autistic symptoms and biochemical variables. The biochemical parameters most associated with functional impairment were the increased levels of HCY and IL-6. Conclusions: our results confirm the need of further research on alterations of TRP metabolism in ASD and highlight the value of assessing the association of ASD with specific immune system alterations and impaired HCY-related metabolism, which may affect trans-sulfuration/methylation processes in this population. Moreover, our results confirm the presence of intermediate alterations in relatives of ASD patients also from a biochemical point of view, thus providing more support to the presence of a continuum between sub-threshold and full-threshold ASD phenotypes. Finally, our results stress the importance of evaluating metabolomics/proteomic signatures in the field of ASD patients’ care and management.
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Purcell, Deborah. "Development of rapid methods for the characterisation of sugarcane phenotypes." Thesis, Queensland University of Technology, 2003. https://eprints.qut.edu.au/105692/1/T%28S%29%20431%20Development%20of%20rapid%20methods%20for%20the%20characterisation%20of%20sugarcase%20phenotypes.pdf.

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The Australian Sugar Industry has an export market reputation as a supplier of good quality raw sugar. Maintaining this good quality reputation is paramount and the industry relies on a set of sugar quality parameters to do so. This research offers a more efficient method of screening for one particular parameter. At present, a rating for each sugarcane variety with respect to beverage floc (a visible defect, which manifests itself in soft drink that has been standing for some time) is established using extensive field trials. This problem of beverage floc is caused by the production in the field of a bacterial polysaccharide that has the ability to scavenge or cause aggregation of other low concentration impurities, which leads to the production of beverage floc. Using data generated by the gas chromatographic (GC) analysis of sugarcane stalk wax a phenotypic association was observed between the chemical composition of stalk wax and the varietal floc rating. This relationship was determined by applying chemometric methods of principal component analysis (PCA) where groups of variables were identified according to resistance and susceptibility. The partial least squares (PLS) approach was used for predicting ratings, which fall within the accepted variation of traditional methods. Spectroscopic methods were utilised in order to further develop the potential of this correlation. This initial work involves predominantly Photo-Acoustic Spectroscopy (PAS) and Near Infrared Spectroscopy (NIR). These results are preliminary but never the less very encouraging, with further development and validation a non-destructive wax analysis which can be performed in the field and allow the processing of potentially hundreds and perhaps thousands of varieties on a reasonable timescale. The result will enable a more informed decision to be made about a particular variety if one of the quality parameters is known earlier in the breeding program. In addition, more plants will be screened and this will increase the genetic pool used to identify desirable genetic traits, which can be incorporated into the plant-breeding program.
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Tang, Shan. "Expanding the phenotype and genetic spectrum of myoclonic astatic epilepsy." Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/expanding-the-phenotype-and-genetic-spectrum-of-myoclonic-astatic-epilepsy(991de1f3-e1a5-49d7-b68a-43abb859fb39).html.

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Myoclonic astatic epilepsy (MAE) is a rare generalised childhood epilepsy with variable but poorly described neurodevelopmental outcome. Family studies suggest a major genetic influence as up to two thirds of relatives have seizures, or electroencephalographic (EEG) abnormalities. MAE is associated with 10 different genes, yet these genes account for less than 20% of the genetic aetiology of MAE leaving the majority unexplained. The aims of this thesis were (1) describe the epilepsy and neurodevelopmental phenotype of MAE cases, (2) perform EEG studies on first degree family members for familial EEG abnormalities and compare occurrence of epileptiform features to population prevalence and (3) to collect DNA and identify MAE causative genetic variants through exome sequencing. I assembled the largest MAE cohort (n=123) to date. The epilepsy phenotype is remarkably similar to previously published cohorts. I identified a severe neurodevelopmental phenotype: intellectual disability was reported in 64.9%, autism spectrum disorder in 21.3% and attention deficit hyperactivity symptoms in 41.0%. Additionally, extremely low adaptive behavioural scores were identified in 69.4% of cases. I performed EEG studies on 38 first-degree relatives of 13 MAE families, and found an excess of epileptiform EEG features in adults (&gt;16 years), compared to controls (P=0.05, RR 6.82). I identified likely pathogenic or candidate variants in 11 of 109 cases. This comprised known genes associated with MAE: CHD2 n=1, SYNGAP1 n=2, SLC6A1 n=1, KIAA2022 n=1; epilepsy associated genes novel for MAE: KCNB1 n=1, MECP2 n=1, KCNH5 n=1, and three new candidate genes; SMARCA2 n=1, ASH1L n=1 and CHD4 n=1. Lastly, I highlight phenotypic features which help correlate with known and novel specific gene associations, discuss that MAE is a phenotypic and genetic nosological bridge between genetic generalised epilepsy and epileptic encephalopathy, and discussion applications and future directions leading on from this project.
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Eleftheriades, Amelia L. "Theory of mind, central coherence and executive function in parents of children with autistic spectrum disorder." Thesis, University of East Anglia, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.246968.

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Introduction: This study investigates cognitive theory of autistic spectrum disorder. Based on the argument that the disorder may have a genetic component to its aetiology, cognitive characteristics similar to those associated with the condition are hypothesised to be evident in the parents. Theory of mind, central coherence and executive function are therefore investigated. Relationships between these three areas of cognitive function are also explored. Methodology: Nineteen parents of children with high functioning autism or Asperger syndrome were compared with 18 gender-matched parents of normally developing children, on measures of theory of mind, central coherence, and executive function. Results: Executive function was significantly poorer in the parents of children with autistic spectrum disorder, than in the control group; but theory of mind and central coherence were similar across the two groups. Overall, 52.6 % of the autism group and only 5.6 % of the control group fell below age and IQ weighted cut-off scores on the Hayling and Brixton tests of executive dysfunction, A number of significant correlations between test measures were found. Discussion : These findings provide further support for the genetic argument and the executive function theory of autism, but fail to support the theory of mind or central coherence models. Possible interpretations of the significant associations between test scores were considered in the light of previous findings. Methodological issues were considered important. Limits of the executive dysfunction model as a stand-alone theory of autistic spectrum disorder were also highlighted. Ideas regarding clinical relevance and future research were discussed.
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Hofvander, Björn. "AD/HD and autism spectrum disorders in adults." Malmö : Forensic Psychitry, Lund University, 2009. http://www.lu.se/o.o.i.s?id=12588&postid=1487259.

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Books on the topic "Phenotypic Spectrum"

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Chiang, Andrew Hann. Mechanisms Underlying Phenotypic Heterogeneity in Simplex Autism Spectrum Disorders. [publisher not identified], 2021.

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Mazzone, Luigi, Martina Siracusano, and Kevin A. Pelphrey, eds. Autism Spectrum Disorder: Understanding the Female Phenotype. Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-031-62072-0.

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Handbook Of Schizophrenia Spectrum Disorders Phenotypic And Endophenotypic. Springer, 2011.

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Ritsner, Michael S. Handbook of Schizophrenia Spectrum Disorders, Volume II: Phenotypic and Endophenotypic Presentations. Springer London, Limited, 2011.

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Ritsner, Michael S. Handbook of Schizophrenia Spectrum Disorders, Volume II: Phenotypic and Endophenotypic Presentations. Springer, 2014.

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South, Mikle, John D. Herrington, and Sarah J. Paterson. Neuroimaging in Autism Spectrum Disorders. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0003.

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This chapter reviews several major themes in the neuroimaging of ASDs to date (see summary of representative themes in Table 3.1), including substantial and essential contributions from the modular framework. The chapter begins, however, with a discussion of several challenges related to the diversity of ASDs in terms of factors such as age, level of functioning, and symptom presentation. Progress in the ability to identify more homogenous subgroups, based on targeted phenotypic measures, opens the door to link neuroimaging with genetics findings and also with treatment outcome data. This should lead to better understanding of both the causes of ASDs and the best approaches to intervention. The chapter is divided according to two broad, related themes related to social information processing and cognitive factors in ASDs. Within these themes, the chapter considers evidence from both structural and functional imaging studies as well as relatively newer approaches to connectivity, including diffusion tensor imaging. The primary focus of this chapter is on research utilizing functional magnetic resonance imaging (fMRI) and electroencephalography (EEG). Although several early neuroimaging studies utilized positron emission tomography scanning, these studies are rare now and are not addressed in depth. New techniques such as near-infrared spectroscopy suggest tremendous promise for noninvasive imaging of expanded age groups and severity levels of ASDs; however, these studies are also few in number and are touched on only briefly.
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Franco, Brunella. Oral-facial-digital type 1 syndrome. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0319_update_001.

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This chapter discusses oral-facial-digital type 1 syndrome (OFD1), which represents a rare syndromic form of inherited renal cystic disease associated with dysfunction of primary cilia. The disease is transmitted as an X-linked dominant male lethal trait. Embryonic lethality in affected hemizygous males is usually reported in the first and second trimesters of pregnancy. The clinical spectrum for this disease includes malformation of the face, oral cavity, and digits with a high degree of phenotypic variability, even within the same family, possibly due to X-inactivation. Renal cystic disease is present in over 65% of adult cases and is usually observed in the second and third decades of life.
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Vester, Udo, and Stefanie Weber. Renal coloboma syndrome. Edited by Adrian Woolf. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0360.

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Renal coloboma syndrome is characterized by hypodysplasia of the kidneys and optic never anomalies. Dominant mutations in the paired box PAX2 gene have been defined as the underlying cause. Paired box proteins are important proteins involved in early organogenesis and PAX2 is highly expressed in the kidney, eye, and ear. This pattern of expression explains the spectrum of anomalies observed in RCS patients. The phenotypic variability of mutation carriers is high but ocular anomalies are detectable in almost all affected individuals. In some patients hearing impairment is observed. End-stage renal disease develops in the large majority of patients with PAX2 mutations and associated hypodysplasia of the kidneys.
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Eapen, Valsamma, Andrew J. Whitehouse, Charles Claudianos, and Rudi Crncec, eds. Autism Spectrum Disorders: From Genotypes to Phenotypes. Frontiers Media SA, 2015. http://dx.doi.org/10.3389/978-2-88919-680-7.

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Autism spectrum disorders: Phenotypes, mechanisms, and treatments. Karger, 2015.

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Book chapters on the topic "Phenotypic Spectrum"

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Lecavalier, Luc. "Phenotypic Variability in Autism Spectrum Disorder: Clinical Considerations." In Handbook of Autism and Anxiety. Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-06796-4_2.

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Kolc, Kristy L., Rikke S. Møller, Lynette G. Sadleir, Ingrid E. Scheffer, Raman Kumar, and Jozef Gecz. "PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum." In Cell Biology and Translational Medicine, Volume 10. Springer International Publishing, 2020. http://dx.doi.org/10.1007/5584_2020_574.

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Banne, Ehud, Vardiella Meiner, Avraham Shaag, et al. "Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum." In JIMD Reports. Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_474.

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Guazzarotti, Laura. "Broad Phenotypic Spectrum of Ectodermal Dysplasias in Childhood and Adolescence." In Multidisciplinary Approach to Ectodermal Dysplasia. Springer Nature Switzerland, 2024. https://doi.org/10.1007/978-3-031-75790-7_14.

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Bishop, Naomi, Azhari Aziz, and Christian Barth. "Phenotypic Variation in Autism Spectrum Disorder: Insights from Syndromic Forms of Autism." In Comprehensive Guide to Autism. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-4788-7_203.

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Cappuccio, Gerarda, Paldeep S. Atwal, Taraka R. Donti, et al. "Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine." In JIMD Reports. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_21.

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Helman, Guy, Maria Belen Pappa, and Phillip L. Pearl. "Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis." In JIMD Reports. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_327.

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Helman, Guy, Maria Belen Pappa, and Phillip L. Pearl. "Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis." In JIMD Reports. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-662-44578-5_344.

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Musa, Sara, Wafaa Eyaid, Kimberli Kamer, et al. "A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients." In JIMD Reports. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_107.

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Parr, Jeremy, and Ann S. Le-Couteur. "Broader Autism Phenotype." In Encyclopedia of Autism Spectrum Disorders. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6435-8_868-5.

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Conference papers on the topic "Phenotypic Spectrum"

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Farajpoor, Parastoo, Alireza Pourreza, Mohammadreza Narimani, Ashraf El‐Kereamy, and Matthew W. Fidelibus. "Leaf spectral reflectance prediction using multihead attention neural networks." In Autonomous Air and Ground Sensing Systems for Agricultural Optimization and Phenotyping X, edited by Christoph Bauer and J. Alex Thomasson. SPIE, 2025. https://doi.org/10.1117/12.3061298.

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Kudenov, Michael W., Lucas Bauer, Joshua Larsen, et al. "Mueller matrix spectral and polarimetric imaging for high throughput plant phenotyping." In Photonic Technologies in Plant and Agricultural Science II, edited by Dag Heinemann and Gerrit Polder. SPIE, 2025. https://doi.org/10.1117/12.3049631.

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Hao, Xiaoke, Mingming Ma, Yingchun Guo, Jiawang Li, Jing Qin, and Daoqiang Zhang. "A Framework on Imaging and Phenotype Information Hierarchical Graph Convolutional Networks for Identification of Autism Spectrum Disorder." In 2024 IEEE International Symposium on Biomedical Imaging (ISBI). IEEE, 2024. http://dx.doi.org/10.1109/isbi56570.2024.10635906.

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Basener, William, Abigail Basener, and Michael Luegering. "An Interpretable Neural Network for Vegetation Phenotyping with Visualization of Trait-Based Spectral Features." In 2024 14th Workshop on Hyperspectral Imaging and Signal Processing: Evolution in Remote Sensing (WHISPERS). IEEE, 2024. https://doi.org/10.1109/whispers65427.2024.10876506.

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Schorling, D. C., R. Kaur, S. Donkervoort, et al. "Phenotypic Spectrum of PNPT1: Interferonopathy or Not?" In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739628.

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Pertler, E., M. Panzer, A. Viveiros, et al. "The Phenotypic Spectrum of Patients with Genetic variants in Ceruloplasmin." In 54. Jahrestagung & 31. Fortbildungskurs der Österreichischen Gesellschaft für Gastroenterologie & Hepatologie – ÖGGH (Hybrid Veranstaltung). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1734305.

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Obafemi-Ajayi, Tayo, Dao Lam, T. Nicole Takahashi, Stephen Kanne, and Donald Wunsch. "Sorting the phenotypic heterogeneity of autism spectrum disorders: A hierarchical clustering model." In 2015 IEEE Conference on Computational Intelligence in Bioinformatics and Computational Biology (CIBCB). IEEE, 2015. http://dx.doi.org/10.1109/cibcb.2015.7300337.

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Florio, L. Di, V. Verrotti di Pianella, A. Lanzano, et al. "P84 A case of short stature: a milder phenotypic spectrum of noonan syndrome?" In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.172.

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Chen, Hao, Fuzhen Zhuang, Li Xiao, et al. "AMA-GCN: Adaptive Multi-layer Aggregation Graph Convolutional Network for Disease Prediction." In Thirtieth International Joint Conference on Artificial Intelligence {IJCAI-21}. International Joint Conferences on Artificial Intelligence Organization, 2021. http://dx.doi.org/10.24963/ijcai.2021/308.

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Recently, Graph Convolutional Networks (GCNs) have proven to be a powerful mean for Computer Aided Diagnosis (CADx). This approach requires building a population graph to aggregate structural information, where the graph adjacency matrix represents the relationship between nodes. Until now, this adjacency matrix is usually defined manually based on phenotypic information. In this paper, we propose an encoder that automatically selects the appropriate phenotypic measures according to their spatial distribution, and uses the text similarity awareness mechanism to calculate the edge weights between nodes. The encoder can automatically construct the population graph using phenotypic measures which have a positive impact on the final results, and further realizes the fusion of multimodal information. In addition, a novel graph convolution network architecture using multi-layer aggregation mechanism is proposed. The structure can obtain deep structure information while suppressing over-smooth, and increase the similarity between the same type of nodes. Experimental results on two databases show that our method can significantly improve the diagnostic accuracy for Autism spectrum disorder and breast cancer, indicating its universality in leveraging multimodal data for disease prediction.
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K. Alkhudhairy, Miaad, and Mahasin Sifir Madkhur. "Detection of Proteus Mirabilis Carrying blaCTX-M, blaSHV, and blaTEM Genes Related to Urinary Tract Infections." In IX. International Scientific Congress of Pure, Applied and Technological Sciences. Rimar Academy, 2023. http://dx.doi.org/10.47832/minarcongress9-4.

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Background: Proteus mirabilis is a bacterium that causes many serious systematic infections. The aim of the study: Determination of Proteus mirabilis carrying blaCTX-M, blaSHV, and blaTEM genes related to urinary tract infections. Materials and Methods: 402 samples of urine were randomly collected from patients with symptomatic urinary tract infections at Al-Sadder Hospital in Al-Najaf Governorate, Iraq, from October 2022 to December 2023. Results: 71 (17.7%) isolates of P. mirabilis were identified according to microscopic, culture, and biochemical characteristics, then were tested for their ability to produce extended-spectrum β-lactamases by the two phenotypic methods: double disc synergy test and modified Hodge test. 19 (26.8%) extended-spectrum β-lactamases-producers, which had previously been evaluated using the phenotypic method, were subjected to the investigation of β-lactamases encoding genes by using the polymerase chain reaction technique. This molecular technique detected 8 (42.1%) isolates carrying single β-lactamases encoding gene, 7 (36.8%) isolates had blaCTX-M gene, only one isolate (5.3%) carried blaSHV gene, and no single blaTEM gene was detected in any isolate. 3 (15.8%) isolates harbored multiple genes: blaCTX-M and blaTEM. Conclusions: blaCTX-M gene was found to be more predominant among the extended-spectrum β-lactamases-producer under study than other genes
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Reports on the topic "Phenotypic Spectrum"

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Herrador Rodríguez, Alicia, and Francisco José Esteban Ruiz. Integrating STXBP1 syndrome phenotypes. Fundación Avanza, 2024. http://dx.doi.org/10.60096/fundacionavanza/1602024.

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In this study, we explored the phenotype-genotype spectrum of STXBP1 syndrome from a systems biology approach. We carried out a comparative analysis between the Human Phenotype Ontology and recent scientific findings using computational techniques.
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ALBA ROBLES, ANTONIO, and Francisco José Esteban Ruiz. Integrating STXBP1 syndrome phenotypes. Fundación Avanza, 2024. http://dx.doi.org/10.60096/fundacionavanza/8432024.

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In this study, we explored the phenotype-genotype spectrum of STXBP1 syndrome from a systems biology approach. We carried out a comparative analysis between the Human Phenotype Ontology and recent scientific findings using computational techniques.
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Cooper, Jaimee, Nicholas DiStefano, David Elisha, et al. Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2025. https://doi.org/10.37766/inplasy2025.2.0026.

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Levisohn, Sharon, Mark Jackwood, and Stanley Kleven. New Approaches for Detection of Mycoplasma iowae Infection in Turkeys. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7612834.bard.

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Mycoplasma iowae (Mi) is a pathogenic avian mycoplasma which causes mortality in turkey embryos and as such has clinical and economic significance for the turkey breeder industry. Control of Mi infection is severely hampered by lack of adequate diagnostic tests, together with resistance to most antibiotics and resilience to environment. A markedly high degree of intra-species antigenic variation also contributes to difficulties in detection and control of infection. In this project we have designed an innovative gene-based diagnostic test based on specific amplification of the 16S rRNA gene of Mi. This reaction, designed Multi-species PCR-RFLP test, also amplifies the DNA of the pathogenic avian mycoplasmas M. gallisepticum (Mg) and M. synoviae (Ms). This test detects DNA equivalent to about 300 cfu Mi or either of the other two target mycoplasmas, individually or in mixed infection. It is a quick test, applicable to a wide variety of clinical samples, such as allantoic fluid or tracheal or cloacal swab suspensions. Differential diagnosis is carried out by gel electro-phoresis of the PCR amplicon digested with selected restriction enzymes (Restriction Fragment Length Polymorphism). This can also be readily accomplished by using a simple Dot-Blot hybridization assay with digoxigenin-labeled oligonucleotide probes reacting specifically with unique Mi, Mg or Ms sequences in the PCR amplicon. The PCR/OLIGO test increased sensitivity by at least 10-fold with a capacity for rapid testing of large numbers of samples. Experimental infection trials were carried out to evaluate the diagnostic tools and to study pathogenesis of Mi infection. Field studies and experimental infection of embryonated eggs indicated both synergistic and competitive interaction of mycoplasma pathogens in mixed infection. The value of the PCR diagnostic tests for following the time course of egg transmission was shown. A workable serological test (Dot Immunobinding Assay) was also developed but there was no clear-cut evidence that infected turkeys develop an immune response. Typing of a wide spectrum of Mi field isolates by a variety of gene-based molecular techniques indicated a higher degree of genetic homogeneity than predicted on the basis of the phenotypic variability. All known strains of Mi were detected by the method developed. Together with an M. meleagridis-PCR test based on the same gene, the Multi-species PCR test is a highly valuable tool for diagnosis of pathogenic mycoplasmas in single or mixed infection. The further application of this rapid and specific test as a part of Mi and overall mycoplasma control programs will be dependent on developments in the turkey industry.
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Willis, C., F. Jorgensen, S. A. Cawthraw, et al. A survey of Salmonella, Escherichia coli (E. coli) and antimicrobial resistance in frozen, part-cooked, breaded or battered poultry products on retail sale in the United Kingdom. Food Standards Agency, 2022. http://dx.doi.org/10.46756/sci.fsa.xvu389.

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Frozen, breaded, ready-to-cook chicken products have been implicated in outbreaks of salmonellosis. Some of these outbreaks can be large. For example, one outbreak of Salmonella Enteritidis involved 193 people in nine countries between 2018 and 2020, of which 122 cases were in the UK. These ready-to-cook products have a browned, cooked external appearance, which may be perceived as ready-to-eat, leading to mishandling or undercooking by consumers. Continuing concerns about these products led FSA to initiate a short-term (four month), cross-sectional surveillance study undertaken in 2021 to determine the prevalence of Salmonella spp., Escherichia coli and antimicrobial resistance (AMR) in frozen, breaded or battered chicken products on retail sale in the UK. This study sought to obtain data on AMR levels in Salmonella and E. coli in these products, in line with a number of other FSA instigated studies of the incidence and nature of AMR in the UK food chain, for example, the systematic review (2016). Between the beginning of April and the end of July 2021, 310 samples of frozen, breaded or battered chicken products containing either raw or partly cooked chicken, were collected using representative sampling of retailers in England, Wales, Scotland and Northern Ireland based on market share data. Samples included domestically produced and imported chicken products and were tested for E. coli (including extended-spectrum beta-lactamase (ESBL)-producing, colistin-resistant and carbapenem-resistant E. coli) and Salmonella spp. One isolate of each bacterial type from each contaminated sample was randomly selected for additional AMR testing to determine the minimum inhibitory concentration (MIC) for a range of antimicrobials. More detailed analysis based on Whole Genome Sequencing (WGS) data was used to further characterise Salmonella spp. isolates and allow the identification of potential links with human isolates. Salmonella spp. were detected in 5 (1.6%) of the 310 samples and identified as Salmonella Infantis (in three samples) and S. Java (in two samples). One of the S. Infantis isolates fell into the same genetic cluster as S. Infantis isolates from three recent human cases of infection; the second fell into another cluster containing two recent cases of infection. Countries of origin recorded on the packaging of the five Salmonella contaminated samples were Hungary (n=1), Ireland (n=2) and the UK (n=2). One S. Infantis isolate was multi-drug resistant (i.e. resistant to three different classes of antimicrobials), while the other Salmonella isolates were each resistant to at least one of the classes of antimicrobials tested. E. coli was detected in 113 samples (36.4%), with counts ranging from &lt;3 to &gt;1100 MPN (Most Probable Number)/g. Almost half of the E. coli isolates (44.5%) were susceptible to all antimicrobials tested. Multi-drug resistance was detected in 20.0% of E. coli isolates. E. coli isolates demonstrating the ESBL (but not AmpC) phenotype were detected in 15 of the 310 samples (4.8%) and the AmpC phenotype alone was detected in two of the 310 samples (0.6%) of chicken samples. Polymerase Chain Reaction (PCR) testing showed that five of the 15 (33.3%) ESBL-producing E. coli carried blaCTX-M genes (CTX-M-1, CTX-M-55 or CTX-M-15), which confer resistance to third generation cephalosporin antimicrobials. One E. coli isolate demonstrated resistance to colistin and was found to possess the mcr-1 gene. The five Salmonella-positive samples recovered from this study, and 20 similar Salmonella-positive samples from a previous UKHSA (2020/2021) study (which had been stored frozen), were subjected to the cooking procedures described on the sample product packaging for fan assisted ovens. No Salmonella were detected in any of these 25 samples after cooking. The current survey provides evidence of the presence of Salmonella in frozen, breaded and battered chicken products in the UK food chain, although at a considerably lower incidence than reported in an earlier (2020/2021) study carried out by PHE/UKHSA as part of an outbreak investigation where Salmonella prevalence was found to be 8.8%. The current survey also provides data on the prevalence of specified AMR bacteria found in the tested chicken products on retail sale in the UK. It will contribute to monitoring trends in AMR prevalence over time within the UK, support comparisons with data from other countries, and provide a baseline against which to monitor the impact of future interventions. While AMR activity was observed in some of the E. coli and Salmonella spp. examined in this study, the risk of acquiring AMR bacteria from consumption of these processed chicken products is low if the products are cooked thoroughly and handled hygienically.
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