Bibliografie tematiche / Genetic screening

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Letteratura scientifica selezionata sul tema "Genetic screening"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 30 luglio 2024

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Articoli di riviste sul tema "Genetic screening"

1

Elias, Sherman, e George J. Annas. "Generic Consent for Genetic Screening". New England Journal of Medicine 330, n. 22 (2 giugno 1994): 1611–13. http://dx.doi.org/10.1056/nejm199406023302213.

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2

Hasanova, Aytakin, e Lamiya Guliyeva. "GENETIC SCREENING". Likarska sprava, n. 1-2 (25 maggio 2021): 40–44. http://dx.doi.org/10.31640/jvd.1-2.2021(6).

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Abstract (sommario):
Human, as a species, is very variable, and his variability is at the basis of his social organization. This variability is maintained, in part, by the chance effects of gene assortment and the variation in these genes is the result of mutations in the past. If our remote ancestors had not mutated we would not he here; further, since no species is likely to he able to reduce its mutation rate substantially by the sort of selection to which it is exposed, we may regard mutations of recent origin as part of the price of having evolved. We are here: all of us have some imperfections we would wish not to have, and many of us are seriously incommoded by poor sight, hearing or thinking. Others among us suffer from some malformation due to faulty development. A few are formed lacking some essential substance necessary to metabolize a normal diet, to clot the blood, or to darken the back of the eye. We will all die and our deaths will normally be related to some variation in our immu­nological defences, in our ability to maintain our arteries free from occlusion, or in some other physiological aptitude. This massive variation, which is the consequence both of chance in the distribution of alleles and variety in the alleles themselves, imposes severe disabilities and handicaps on a substantial proportion of our population. The prospects of reducing this burden by artificial selection from counsel­ling or selective feticide will be considered and some numerical estimates made of its efficiency and efficacy.
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3

Burke, W., B. Tarini, N. A. Press e J. P. Evans. "Genetic Screening". Epidemiologic Reviews 33, n. 1 (27 giugno 2011): 148–64. http://dx.doi.org/10.1093/epirev/mxr008.

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4

Clarke, Angus. "Genetic screening". Practice Nursing 7, n. 14 (settembre 1996): 32–34. http://dx.doi.org/10.12968/pnur.1996.7.14.9823.

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5

Williams, Janet K. "Genetic Screening". Journal of Obstetric, Gynecologic & Neonatal Nursing 14, n. 5 (settembre 1985): 350. http://dx.doi.org/10.1111/j.1552-6909.1985.tb02081.x.

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6

McCarrick, Pat Milmoe. "Genetic Testing and Genetic Screening". Kennedy Institute of Ethics Journal 3, n. 3 (1993): 333–54. http://dx.doi.org/10.1353/ken.0.0251.

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7

Sermon, Karen. "Preimplantation Genetic Screening". OBM Genetics 1, n. 4 (27 ottobre 2017): 1. http://dx.doi.org/10.21926/obm.genet.1704008.

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Sermon, Karen. "Preimplantation Genetic Screening". OBM Genetics 1, n. 1 (27 ottobre 2017): 1. http://dx.doi.org/10.21926/obm.genet.1704009.

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Mastenbroek, S., M. Twisk, F. van der Veen e S. Repping. "Preimplantation genetic screening". Reproductive BioMedicine Online 17, n. 2 (gennaio 2008): 293. http://dx.doi.org/10.1016/s1472-6483(10)60209-x.

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Harper, Joyce C. "Preimplantation genetic screening". Journal of Medical Screening 25, n. 1 (14 giugno 2017): 1–5. http://dx.doi.org/10.1177/0969141317691797.

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Abstract (sommario):
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.
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Tesi sul tema "Genetic screening"

1

Blaauw, Sonja. "SNP screening and validation in Haliotis midae". Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/19976.

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Abstract (sommario):
Thesis (MSc)--Stellenbosch University, 2012.
ENGLISH ABSTRACT: Haliotis midae (commonly referred to as perlemoen) is the only one of five endemic species in South Africa that is commercially valued both locally and internationally. Unfortunately, natural perlemoen populations have become a dwindling resource due to commercial exploitation, poaching and the influx of natural threats, such as the West Coast rock lobster, Jasus lalandii. To preserve the natural diversity and sustainability of natural populations as well as commercial stocks, genetic management and improvement of perlemoen is critical. Genetic management requires the utilisation of molecular markers, which aid in the construction of linkage maps and the identification of quantitative trait loci (QTL) associated with economically significant traits. This will allow improvement of commercial stock management in terms of broodstock selection as well as provide valuable insight into natural population dynamics. Single Nucleotide Polymorphisms (SNPs) were selected as the marker of choice due to their successful employment as molecular markers and their wide distribution and abundance within the genomes of various marine species. This study focuses on the characterisation of novel SNPs from transcript sequences generated by Next Generation Sequencing technology. Approximately 40% of the transcripts facilitated the isolation of 105 putative markers, indicating a SNP frequency of ~1% within the H. midae genome. A subset of 24 markers, in addition to 24 previously developed markers, was characterised using the Illumina GoldenGate genotyping assay with the VeraCode technology, a medium to high-throughput genotyping technology. This is the first reported medium- to highthroughput characterisation of SNPs in H. midae. The selected markers were used to determine the efficiency and overall success rate of the GoldenGate platform. Marker characterisation was completed in both natural and commercial populations to determine the utility of these markers for genetic diversity and population structure inference. An 85% genotyping success rate was achieved with the platform. Statistical analysis indicated that the markers developed in this study are suitable for applications including population genetic structure inference, genetic diversity estimation and possibly other downstream applications such as linkage mapping. These markers are considered to be invaluable for future work regarding the genetic management and conservation of H. midae.
AFRIKAANSE OPSOMMING: Haliotis midae (ook bekend as perlemoen) is die enigste van vyf inheemse spesies in Suid-Afrika wat noemenswaardige kommersiële waarde toon plaaslik sowel as internasionaal. Ongelukkig het kommersiële uitbuiting, wildstropery en natuurlike bedreiging (bv. die Weskus kreef Jasus lalandii), wilde perlemoen populasies noemenswaardig verminder. Dus, om natuurlike diversiteit en die voortbestaan van beide wilde en kommersiële populasies te beskerm, is genetiese bestuur en verbetering absoluut noodsaaklik. Genetiese bestuur vereis die gebruik van molekulêre merkers as ’n hulpmiddel in die opstellingvan koppelingskaarte, en die identifisering van die relevante kwantitatiewe eienskap loki (QTL) tipies geassosieer met ekonomies belangrike eienskappe. Die laasgenoemde beoog om kommersiële voorraad bestuur te verbeter, kragtens deur broeidier seleksie sowel as om insig te verskaf m.b.t. wilde bevolking dinamika. Enkel Nukleotied Polimorfismes (SNPs) is gekies as die toepaslike merker vanweë die omvattende toepaslikheid van hierdie merkers binne die genome van verskeie mariene spesies. Hierdie studie fokus op die karakterisering van nuwe SNPs vanuit transkript volgordes ontwikkel deur middel van Volgende Generasie Volgordebepaling (“Next Generation Sequencing”). ’n Beraamde 40% van transkripte het gelei tot die ontwikkeling van 105 potensiëlemerkers, aanduidend van ’n SNP frekwensie van ~1% binne die H. midae genoom. ’n Sub-versameling van 24 merkers, tesame met 24 bestaande merkers, is gekarakteriseer deur die Illumina GoldenGate genotiperings toets met die VeraCode tegnologie, ’n medium tot hoë deurvloei genotiperingstegnologie. Hierdie is die eerste berig van medium tot hoë deurvloei karakterisering van SNPs in H. midae. Die geselekteerde merkers is gebruik om die doeltreffendheid van die GoldenGate platform te bepaal. Merker karakterisering is uitgevoer in beide wilde en kommersiële bevolkings om die effektiewe bruikbaarheid van hierdie merkers m.b.t. genetiese diversiteit, en bevolking struktuur bepaling, te ondersoek. Die platform het ’n 85% genotiperingsukses syfer getoon. Statistiese analise dui daarop dat merkers ontwikkel tydens hierdie studie toepaslik is vir bevolking genetiese struktuur bepaling, genetiese diversiteitberaming en moontlik ook genetiese koppelingskartering. Hierdie merkers word bestempel as onmisbaar vir toekomstige navorsing in genetiese bestuur en bewaring van H. midae.
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2

Moye, William Andrew. "Cost-effectiveness Analysis of Preimplantation Genetic Screening". ScholarWorks, 2018. https://scholarworks.waldenu.edu/dissertations/4806.

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Abstract (sommario):
In vitro fertilization (IVF) is used to help infertile couples achieve a live birth. Clinical studies have suggested that multiple, consecutive cycles of IVF can increase live birth rate significantly. Others have documented improved live birth rates from the use of new laboratory techniques for preimplantation genetic screening (PGS). This genetic screening technique seeks to determine the ploidy of the embryo prior to implantation into the woman. To date, no study has examined the cost-effectiveness of using IVF in conjunction with PGS compared to that of IVF alone for 3 consecutive cycles in achieving a live birth. This study compared the incremental cost-effectiveness ratios (ICER) from each intervention arm based on the clinical probabilities for each outcome and this study was grounded in the protection motivation theory. Costs were obtained from secondary sources, such as the literature and government databases. The model was constructed using a decision-analytical approach that allowed for z test statistical analysis of the outcomes, where the ICER is the dependent variable and the independent variables are the 2 interventions. The robustness of the model was tested through univariate and probabilistic sensitivity analysis and stratified by age groups. The results showed that PGS with IVF was cost-effective for women aged under 40 and women aged 40-42, but not for women over 42. Based on a willingness-to-pay threshold of $100,000, IVF with PGS was the most cost-effective strategy in all age groups. The positive social change implication of this study is such that understanding the costs associated with a new technology to achieve a live birth is significant for society to help guide clinical treatment of these patients.
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3

Hoek, Kim G. P. "Mutation screening of pre-eclampsia candidate genes, LEP (ob) and LEPR (obR)". Thesis, Stellenbosch : University of Stellenbosch, 2006. http://hdl.handle.net/10019.1/2834.

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Abstract (sommario):
Thesis (MSc (Genetics))--University of Stellenbosch, 2006.
Pre-eclampsia is a multisystemic disorder with an incidence of ~6-8% in non-Caucasian women in the Western Cape. Trophoblast invasion is vital for adequate anchorage of the placenta to the uterine wall as well as for the optimisation of utero-placental blood flow in uncomplicated pregnancies. This process is facilitated by the fetal trophoblast cells that digest the extracellular matrix of the uterus by secreting various molecules, including the metalloproteinases (MMP), of which MMP-9 has an increased production during the first trimester. Leptin, an autocrine regulator of MMP-9 secretion, functions via the leptin receptor to prevent over-invasion of maternal tissues. The aim of this study was to investigate the role of the leptin (ob) and leptin receptor (obR) genes in predisposition to pre-eclampsia and involved screening the genes in South African non-Caucasian cohorts and performing statistical analysis to determine whether any variants contributed to the disease profile.
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4

Evans, Mark Francis. "Molecular genetic analysis of cervical dysplasia". Thesis, University of Hertfordshire, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338560.

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5

Heilbronn, Leonie Kaye. "Gene/environment interactions in human obesity". Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.

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6

Melley, Caitlin. "Surgical fetal intervention assessing the current practices of genetic counselors /". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23321.

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Duncan, Rony Emily. "Holding your breath : predictive genetic testing in young people /". Connect to thesis, 2005. http://eprints.unimelb.edu.au/archive/00001621.

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8

Dubé, Nicholas Larsen Andrew. "Enhanced genetic screening plan for the B.C. molecular genetics laboratory : a five year business plan /". Burnaby B.C. : Simon Fraser University, 2007. http://ir.lib.sfu.ca/handle/1892/9369.

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Abstract (sommario):
Research Project (M.B.A.) - Simon Fraser University, 2007.
Theses (Faculty of Business Administration) / Simon Fraser University. Senior supervisor: Dr. Aidan Vining -- Faculty of Business Administration. MBA-MOT Program. Also issued in digital format and available on the World Wide Web.
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9

Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN". Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.

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10

Calore, Chiara. "Genotype-phenotype correlations and genetic family screening in hypertrophic cardiomyopathy". Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3421680.

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Abstract (sommario):
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Clinical presentation is heterogeneous, outcome ranging from benign asymptomatic forms to more malignant expressions resulting in sudden or heart failure death. To date, more than 450 mutations have been reported in genes encoding sarcomeric proteins, proteins of the Z-disc, intercalated discs and in genes involved in cardiac metabolism. DNA testing is helpful for confirming diagnosis in ambiguous situations, can give some prognostic information and represents the gold standard for preclinical diagnosis in family members. However, mutation screening in HCM allows positive results in a small percentage of probands and is expensive and time-consuming. Aim of this study was to identify pathogenic mutations in the most common HCM related genes and to correlate molecular defect with clinical-morphological phenotypic pattern in a large cohort of HCM probands from a single centre. Since the mutation in the index case has been identified, a cascade screening has been performed in the first degree family members searching for carriers. Genetic screening for the 4 most commonly HCM-related sarcomeric genes (i.e. MYBPC3, MYH7, TNNT2, TNNI3) was performed by denaturing high performance liquid chromatography (DHPLC) and direct sequencing in 83 HCM index-cases from large and/or “malignant” families. A subgroup of 30 probands underwent more extensive mutation screening by 12 genes (i.e. MYH7, MYBPC3, MYL2, MYL3, TNNT2, TNNI3, TNNC1, TPM1, ACTC, CSRP3, PLN and PRKAG2) array-based DNA resequencing assay. If the mutations found were novel, these were searched in a healthy control population to rule out the possibility that they represent single nucleotide polymorphisms (SNPs). Including both screening methods, our population consisted of 99 index cases (age at diagnosis 31±17 years, age at last control 45±17 years, 70% males, 65% familial cases, 38% with obstruction). Twenty-seven pathogenic HCM-causing mutations were found in 30 probands (30%). Percentage of mutation positive patients was not different in probands with HCM family history (21/64 probands, 33%) versus sporadic cases (9/35 probands, 26%; p=0.46), and irrespective of the screening method used (25/83 probands, 30%, by DHPLC and direct sequencing vs 8/30 probands, 27%, by DNA resequencing array; p=0.72). In 14 index-cases screened both by DHPLC and DNA resequencing array, there was agreement between the two different screening methods (3 mutations in 3 patients found by both methods, and just an intronic mutation “missed” by DNA resequencing array). Genes more frequently involved were MYH7 coding for beta-myosin heavy chain (11 mutations in 11 patients) and MYBPC3 for cardiac myosin-binding protein C (8 mutations in 12 patients). In a minority of probands HCM-causing genes were TNNI3, TNNT2 and MYL3, respectively in 4, 3 and one patients. Two patients had double mutation in compound heterozygous. Wide heterogeneity in clinical presentation and evolution was present in spite of genotype characterization, but when multiple mutations were detected, they were associated with particularly severe phenotype. Fifty-one members from 16 different families were screened for the mutation(s) found in their family proband and 23 (45%) resulted carriers. Eight carriers had phenotypic expression fulfilling diagnostic criteria for HCM (i.e. maximal left ventricular wall thickness, MLVWT ≥ 13 mm), whereas 10 had only minor signs suggestive of HCM (such as ECG abnormalities, MLVWT=12-13 mm, abnormal left ventricular filling pattern at echo-Doppler), and 5 were healthy carriers. Tissue Doppler Imaging seemed to be useful for preclinical diagnosis, but a multiparametric evaluation is needed to identify mutation carriers before phenotypic expression of HCM. Nowadays, mutation screening is becoming part of diagnostic and clinical management of HCM patients and family members. The spectrum of HCM-associated genes has moved outside the myofilaments of the sarcomere to encompass additional subgroups of proteins involved in the pathogenesis of HCM. Mutation carriers without HCM phenotype represent a new subgroup of patients at risk for developing disease, whose clinical and prognostic profile remains unresolved, but of particular interest as possible target for preventive therapeutic strategies that can change the natural history of this disease.
La cardiomiopatia ipertrofica (CMI) rappresenta la più frequente malattia cardiaca geneticamente determinata. È caratterizzata da un decorso clinico estremamente eterogeneo, che può variare da forme benigne ed asintomatiche a quadri particolarmente severi culminanti con morte improvvisa o per insufficienza cardiaca. Fino ad oggi sono state identificate più di 450 diverse mutazioni a carico di oltre 20 geni codificanti non solo proteine del sarcomero, ma anche altre strutture cellulari quali il disco Z e i dischi intercari o geni implicati nel metabolismo cardiaco. L’analisi genetica è un importante strumento diagnostico nelle situazioni dubbie, può dare talora indicazioni prognostiche, ma soprattutto consente di porre una diagnosi preclinica nei familiari di probandi affetti da CMI. Tuttavia essa consente di ottenere dei risultati conclusivi sono in una limitata percentuale di soggetti e rappresenta una metodica costosa, laboriosa ed ancora prerogativa di pochi centri specializzati. Lo scopo di questo studio è stata l’identificazione di mutazioni patogene nei geni sarcomerici più frequentemente implicati nella CMI e la ricerca di correlazioni genotipo-fenotipo in un’ampia popolazione di pazienti con CMI seguiti presso l’ambulatorio specialistico della Clinica Cardiologica dell’Università di Padova. Una volta individuata la mutazione patogena nel probando, questa è stata ricercata nei familiari di primo grado al fine di consentire una diagnosi precoce e di programmare un adeguato follow-up clinico. Data l’impossibilità di sottoporre sistematicamente l’intera popolazione seguita presso il nostro ambulatorio specialistico a tale indagine, si è deciso di procedere con un approccio razionale “a cascata” selezionando 83 casi-indice con forme fenotipicamente più severe o appartenenti a grandi famiglie in cui si erano verificati numerosi eventi maggiori e sottoponendo questi ad analisi genetica per screening di mutazioni nei 4 geni sarcomerici noti dalla letteratura essere i più frequentemente implicati nella CMI (MYBPC3, MYH7, TNNT2, TNNI3) mediante denaturing high performance liquid chromatography (DHPLC) e sequenziamento diretto. Un sottogruppo di 30 probandi è stato sottoposto ad analisi per ricerca di mutazioni in 12 geni sarcomerici e non (MYH7, MYBPC3, MYL2, MYL3, TNNT2, TNNI3, TNNC1, TPM1, ACTC, CSRP3, PLN e PRKAG2) mediante tecnica di DNA resequencing array. Qualora la mutazione trovata non fosse già nota in letteratura, questa è stata testata in una popolazione di controllo di soggetti sani, per confermare che non si trattasse di un polimorfismo. Comprendendo entrambi i metodi di screening la nostra popolazione è risultata composta da 99 casi-indice (età media alla diagnosi 31±17 anni, età all’ultimo controllo 45±17 anni, 70% maschi, 65% con familiarità per CMI, 38% forme ostruttive). Sono state identificate 27 mutazioni patogene in 30 probandi (30%). La percentuale di probandi con mutazione è risultata non variare a seconda del metodo di screening utilizzato (25/83 probandi, 30%, identificati mediante DHPLC e sequenziamento diretto contro 8/30 probandi, 27%, mediante DNA resequencing array, p=0,72), né sulla base della storia familiare di CMI (21/64, 33%, nelle forme familiari, contro 9/35, 26%, nei casi sporadici, p=0,46). Dei 14 probandi indagati con entrambe le tecniche, in 3 casi le stesse mutazioni sono state identificate con entrambi i metodi, mostrando una buona concordanza diagnostica. Una sola mutazione in una regione intronica è stata identifica al DHPLC, ma “mancata” al DNA resequencing array. I geni più frequentemente implicati sono risultati MYH7 codificante la catena pesante della beta-miosina con 11 mutazioni in 11 probandi e MYBPC3 codificante la proteina C legante la miosina con 8 mutazioni in 12 probandi. Meno frequentemente sono state riscontrate mutazioni nei geni per le troponine cardiache I e T (rispettivamente in 4 e 3 pazienti) ed in un caso è stata riscontrata una mutazione nel gene MYL3 codificante la catena leggera essenziale della miosina. In due pazienti erano presenti doppie mutazioni. Pazienti con mutazioni a carico dello stesso gene presentavano quadri clinici e decorso estremamente variabile, particolarmente severo nei pazienti con mutazioni multiple. In 51 familiari, provenienti da 16 famiglie, è stata ricercata la mutazione patogena trovata nel probando, e di questi 23 (45%) sono risultati portatori. Mentre in 8 pazienti alla presenza di mutazione corrispondeva espressione clinica di malattia, in 5 non vi erano segni di CMI e nei restanti 10 solamente alterazioni minori non ancora diagnostiche (alterazioni aspecifiche dell’ECG, spessore parietale del ventricolo sinistro tra 12 e 13 mm, alterato rilasciamento all’eco-Doppler). L’analisi con Doppler Tissutale si è dimostrata sensibile nell’identificazione di anomalie precoci nei portatori di mutazioni e, se inserita in un approccio diagnostico multiparametrico, potrebbe consentire una diagnosi preclinica. In conclusione, sebbene rappresenti un’indagine costosa e che consente l’identificazione di mutazioni patogene solo in una percentuale di pazienti variabile (circa 30%) l’analisi genetica è entrata a far parte del percorso clinico-diagnostico della cardiomiopatia ipertrofica. Il numero di geni candidati e di mutazioni è in continuo sviluppo comprendendo anche numerosi geni non-sarcomerici. Ampia variabilità clinica e fenotipica è presente nei pazienti con singola mutazione, mentre i pazienti con doppie mutazioni vanno incontro ad un decorso particolarmente severo. Lo screening genetico nei familiari per la ricerca della mutazione identificata nel probando rappresenta il gold-standard per la diagnosi precoce e può guidare il follow-up clinico (stretta sorveglianza clinica per i portatori, rassicurazione e controlli dilazionati nei negativi). Il sottogruppo di portatori sani, il cui decorso clinico rimane ancora da chiarire, rappresenta inoltre un’interessante popolazione per studiare fenomeni precoci di comparsa della malattia ed eventuali strategie preventive.
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Più fonti

Libri sul tema "Genetic screening"

1

Fischer, Michael W., e Markus Hengstschläger. Genetic screening. Frankfurt am Main: Peter Lang, 2009.

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2

Gregg, Anthony R., e Joe Leigh Simpson. Genetic screening and counseling. Philadelphia, Pa: Saunders, 2010.

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3

Bioethics, Nuffield Council on, a cura di. Genetic screening: Ethical issues. London: Nuffield Council on Bioethics, 1993.

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4

Chadwick, Ruth, Darren Shickle, Henk Ten Have e Urban Wiesing, a cura di. The Ethics of Genetic Screening. Dordrecht: Springer Netherlands, 1999. http://dx.doi.org/10.1007/978-94-015-9323-6.

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Bird, R. Curtis, e Bruce F. Smith, a cura di. Genetic Library Construction and Screening. Berlin, Heidelberg: Springer Berlin Heidelberg, 2002. http://dx.doi.org/10.1007/978-3-642-56408-6.

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6

F, Chadwick Ruth, a cura di. The ethics of genetic screening. Dordrecht: Kluwer Academic Publishers, 1999.

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7

Juth, Niklas. Genetic information values and rights: The morality of presymptomatic genetic testing. Göteburg: Acta Universitatis Gothoburgensis, 2005.

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8

Sommer, Annemarie. Birth defects and genetic screening and counseling. Washington, D.C: Veterans Administration Central Office, Dept. of Medicine and Surgery, Agent Orange Projects Office, 1985.

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9

Sommer, Annemarie. Birth defects and genetic screening and counseling. Washington, D.C: Veterans Administration Central Office, Dept. of Medicine and Surgery, Agent Orange Projects Office, 1985.

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Léon, Cassiers, e Vermeersch Etienne 1934-, a cura di. Erfelijkheid: Genetische tests en maatschappij. Leuven: Garant, 2000.

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Capitoli di libri sul tema "Genetic screening"

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Burke, Katherine, e Angus Clarke. "Genetic Screening". In Encyclopedia of Global Bioethics, 1–12. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-05544-2_212-1.

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Petrinovich, Lewis. "Genetic Screening". In Living and Dying Well, 27–43. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-0206-1_2.

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Burke, Katherine, e Angus Clarke. "Genetic Screening". In Encyclopedia of Global Bioethics, 1382–93. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-09483-0_212.

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ten Have, Henk, e Maria do Céu Patrão Neves. "Genetic Screening". In Dictionary of Global Bioethics, 565. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-54161-3_276.

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Rupar, C. Anthony, Lynn Holt e Bruce R. Korf. "Carrier Screening". In Genetic Testing, 238–67. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2006. http://dx.doi.org/10.1002/0471748897.ch10.

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Péter, Kakuk. "Prenatal Genetic Screening". In Encyclopedia of Global Bioethics, 2275–82. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-09483-0_346.

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Péter, Kakuk. "Prenatal Genetic Screening". In Encyclopedia of Global Bioethics, 1–8. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-05544-2_346-1.

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Repping, Sjoerd, Sebastiaan Mastenbroek e Paul N. Scriven. "Preimplantation Genetic Screening". In Preimplantation Genetic Diagnosis in Clinical Practice, 175–85. London: Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-2948-6_16.

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ten Have, Henk, e Maria do Céu Patrão Neves. "Prenatal Genetic Screening". In Dictionary of Global Bioethics, 845. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-54161-3_416.

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MacRae, Andrew R., David Chitayat, Roxanne Mykitiuk, Mireille Lacroix e Stephanie Turnham. "Prenatal and Neonatal Screening". In Genetic Testing, 163–218. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2006. http://dx.doi.org/10.1002/0471748897.ch8.

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Atti di convegni sul tema "Genetic screening"

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Hasanova, Aytakin. "PREDICTIVE GENETIC SCREENING". In The First International Scientific-Practical Conference- “Modern Tendencies of Dialogue in Multidenominational Society: philosophical, religious, legal view”. IRETC MTÜ, 2020. http://dx.doi.org/10.36962/mtdms202029.

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Human, as a species, is very variable, and his variability is at the basis of his social organization. This variability is maintained, in part, by the chance effects of gene assortment and the variation in these genes is the result of mutations in the past. If our remote ancestors had not mutated we would not he here; further, since no species is likely to he able to reduce its mutation rate substantially by the sort of selection to which it is exposed, we may regard mutations of recent origin as part of the price of having evolved. We are here: all of us have some imperfections we would wish not to have, and many of us are seriously incommoded by poor sight, hearing or thinking. Others among us suffer from some malformation due to faulty development. A few are formed lacking some essential substance necessary to metabolize a normal diet, to clot the blood, or to darken the back of the eye. We will all die and our deaths will normally be related to some variation in our immu-nological defences, in our ability to maintain our arteries free from occlusion, or in some other physiological aptitude. This massive variation, which is the consequence both of chance in the distribution of alleles and variety in the alleles themselves, imposes severe disabilities and handicaps on a substantial proportion of our population. The prospects of reducing this burden by artificial selection from counsel¬ling or selective feticide will be considered and some numerical estimates made of its efficiency and efficacy. Screening is a procedure by which populations are separated into groups, and is widely used for administrative and other purposes. At birth all babies are sexed and divided into two groups. Later the educable majority is selected from the ineducable minority; later still screening continues for both administrative and medical purposes. Any procedure by which populations are sifted into distinct groups is a form of screening, the word being derived from the coarse filter used to separate earth and stones. In medicine its essential features are that the population to be screen¬ed is not knowingly in need of medical attention and the action is taken on behalf of this population for its essential good. A simple example is provided by cervical smear examination, the necessary rationale for which must be the haimless and reliable detection of precancerous changes which can be prevented from becoming irreversible. Any rational decision on the development of such a service must be based on a balance of good and harm and any question of priorities in relation to other services must be based on costing. The balance of good and harm is a value judgement of some complexity. In the example of cervical smears anxiety and the consequences of the occasional removal of a healthy uterus must be weighed against the benefits of the complete removal of a cancerous one, and such matters cannot be costed in monetary terms. In fact, even such an apparently simple procedure as cervical screening is full of unknowns and many of these unknowns can only be resolved by extensive and properly designed studies. In genetic screening the matter is even more complicated, since the screening is often vicarious; that is, one person is screened in order to make a prediction on what may happen to someone else, usually their children, who may be un¬conceived or unborn. Further, the action of such screening may not be designed to ameliorate disease, but to eliminate a fetus which has a high chance of an affliction, or to prevent a marriage in which there is a mutual predisposition to producing abnormal children. These considerations impose very considerable dif¬ferences, since the relative values placed on marriage, on having children within marriage, and on inducing abortion, vary widely between individuals and between societies.
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Wilczewski, Jeffrey M., e Ferat Sahin. "A hybrid genetic scatter search algorithm using genetic screening". In 2009 Fifth International Conference on Soft Computing, Computing with Words and Perceptions in System Analysis, Decision and Control (ICSCCW). IEEE, 2009. http://dx.doi.org/10.1109/icsccw.2009.5379437.

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Koinuma, Nobuo, e Michiya Ito. "Abstract B37: Genetic screening of HNPCC". In Abstracts: AACR International Conference on Frontiers in Cancer Prevention Research‐‐ Dec 6–9, 2009; Houston, TX. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1940-6207.prev-09-b37.

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Boughetane, Lina, Tiong Yeng Lim, Sushma Saksena e Frederick Chen. "P18 Cascade screening of genetic haemochromatosis patients". In BSG LIVE’23, 19–22 June, ACC Liverpool. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2023. http://dx.doi.org/10.1136/gutjnl-2023-bsg.92.

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Zaborski, Mateusz, e Jacek Mańdziuk. "Improving LSHADE by means of a pre-screening mechanism". In GECCO '22: Genetic and Evolutionary Computation Conference. New York, NY, USA: ACM, 2022. http://dx.doi.org/10.1145/3512290.3528805.

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Burks, Armand R., e William F. Punch. "Genetic programming for tuberculosis screening from raw X-ray images". In GECCO '18: Genetic and Evolutionary Computation Conference. New York, NY, USA: ACM, 2018. http://dx.doi.org/10.1145/3205455.3205461.

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Gomes, Victor Hugo de Souza Silva, Klesia Adaynny Rodrigues, Isadora Soares Constantini de Andrade, Beatriz Fulador, Bianca Barbosa Araldi, Bruno Ludvig Vieira Schaeffler e Heloise Helena Siqueira. "Use of free genetic screening methods in neurology outpatients in cuiaba: advantages and interpretation difficulties". In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.368.

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Introduction: Medical genetics is increasingly gaining in modern medicine, through panels that enable the screening and diagnosis of rare diseases, becoming an effective ally in determination of some pathologies. In 2021, Invitae provided of medical outpatient clinics with kits for collecting genetic material in order to assist the specialist in diagnosing unusual and difficult-to-recognize conditions. In Cuiabá, the residency in Neurology was chosen to host the use of these methods. Objectives and methods: List the genetic tests collected through oral swabs and quantify the diagnoses made, in addition to the difficulty in determining them due to the technical language used. Results: In 12 months, 61 samples were collected, however, only 50 were analyzed. 11 tests were excluded. The analysis identified 30 male, representing 60% of panels, the average age of total sample was 33.64 years (SD). Received results from 20 samples with negative results in search for pathogenic alleles, while 22 showed only uncertain variants, not being conclusive for any diagnosis, just implying reproductive risk. Total of exams analyzed, 8 samples (16%) were positive for pathogenic variants, confirming the diagnosis of rare diseases and enabling appropriate therapeutic measures, initiation of supportive therapies and familiar guidance. Through this method, two patients were diagnosed with Spinal Muscular Atrophy type III, 1 with Wilson’s disease and two others with Niemann-Pick disease type C. Conclusion: Project ended in mid-2022, with the completion of free access to diagnoses. We emphasize that in many cases, access to genetic panel was extremely relevant, helped in the diagnostic direction, making it possible to start therapies for some patients with potentially treatable diseases. However, we encountered some difficulties, mainly in the interpretation of results provided by laboratory, due to extremely technical language and the large amount of information grouped in text. Conclud that medical genetics is extremely important in assisting medicals in diagnosis of rare diseases. However, there is a need for greater access to geneticists as well as genetic tests available in Brazilian Unified Health System.
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Dunmore, Benjamin, Stephen Burr, Paul Upton, James Nathan e Nicholas Morrell. "Haploid genetic screening identifies a novel regulator of BMPR2". In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.4462.

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Rohlin, Anna, Frida Eiengård, Emma Mårtensson, Theofanis Zagoras, Samuel Gebre-Medhin e Margareta Nordling. "Abstract 3473: Comprehensive genetic screening in hereditary colorectal cancer". In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-3473.

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Rohlin, Anna, Frida Eiengård, Emma Mårtensson, Theofanis Zagoras, Samuel Gebre-Medhin e Margareta Nordling. "Abstract 3473: Comprehensive genetic screening in hereditary colorectal cancer". In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-3473.

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Rapporti di organizzazioni sul tema "Genetic screening"

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Hutchison, Geoffrey. Genetic Algorithms for Rapid Molecular Materials Screening. Office of Scientific and Technical Information (OSTI), dicembre 2023. http://dx.doi.org/10.2172/2246918.

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Doukas, David J. Assessing Patient Values Towards Prostate Cancer Genetic Screening. Fort Belvoir, VA: Defense Technical Information Center, agosto 1999. http://dx.doi.org/10.21236/ada378059.

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Duan, Roxanne. Genetic Screening of Cells with Enhanced Antibody Production. Fort Belvoir, VA: Defense Technical Information Center, gennaio 2007. http://dx.doi.org/10.21236/ada482297.

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Xu, Tian, e Betty Diamond. A Forward Genetic Screening for Prostate Cancer Progression Genes. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2012. http://dx.doi.org/10.21236/ada567776.

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Duster, T. Pathways and barriers to genetic testing and screening: Molecular genetics meets the high-risk family. Final report. Office of Scientific and Technical Information (OSTI), novembre 1998. http://dx.doi.org/10.2172/666241.

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Ross, Mitchell G., Richard W. Webster, Hannah Reed, Brian Mueller, Carol L. Groves, Megan McCaghey, Martin I. Chilvers, Daren S. Mueller e Damon Smith. Improved Screening Method for Genetic Resistance to White Mold (Sclerotinia stem rot) in Soybean. United States: Crop Protection Network, marzo 2021. http://dx.doi.org/10.31274/cpn-20210318-1.

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Trottier, R. W., F. C. Hodgin, M. Imara, D. Phoenix, S. Lybrook, L. A. Crandall, R. E. Moseley e D. Armotrading. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues. Progress report. Office of Scientific and Technical Information (OSTI), marzo 1993. http://dx.doi.org/10.2172/10134803.

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Corkum, Eleanor, Tiffanie Perrault e Erin C. Strumpf. Improving Breast Cancer Diagnosis Pathways in Quebec. CIRANO, ottobre 2023. http://dx.doi.org/10.54932/qsho2261.

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Delays in breast cancer diagnosis can worsen the severity of illness and reinforce inequalities. This report analyzes Quebec’s capabilities and performance along the diagnosis pathway, gathering information from the scientific literature on cancer care, government reports, and expert interviews. The first section outlines which types of breast cancer data Quebec collects, and how data availability impacts the measurement of performance indicators. The second section discusses how socio-economic factors and unclear guidelines for patients outside Quebec’s organized screening program create barriers to diagnosis. We also explore how Quebec’s lack of standardized and integrated care and its outdated cancer registry can create further delays and inefficiencies. The final section of the report compares innovations in breast cancer diagnosis in Quebec to those in Alberta and Ontario, where diagnostic delays are shorter. This comparison suggests that Quebec should include high-risk individuals in its screening program, create personalized screening recommendations, update available imaging and genetic testing technologies, and modernize communication methods. Relevant research and initiatives seeking to increase screening adherence among groups with low screening rates are also discussed. Overall, this paper highlights tangible strategies to shorten and streamline the breast cancer diagnosis interval, and points the reader to key resources for further investigation.
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Pasquerella, Lynn, e Lawrence E. Rothstein. Investigation of the Ethical Concepts that Inform the Laws Limiting Genetic Screening in Employment Decisions: Privacy, Human Dignity, Equality, Autonomy, Efficiency. Office of Scientific and Technical Information (OSTI), gennaio 2003. http://dx.doi.org/10.2172/900759.

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Chamovitz, Daniel A., e Zhenbiao Yang. Chemical Genetics of the COP9 Signalosome: Identification of Novel Regulators of Plant Development. United States Department of Agriculture, gennaio 2011. http://dx.doi.org/10.32747/2011.7699844.bard.

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This was an exploratory one-year study to identify chemical regulators of the COP9 signalosome. Chemical Genetics uses small molecules to modify or disrupt the function of specific genes/proteins. This is in contrast to classical genetics, in which mutations disrupt the function of genes. The underlying concept is that the functions of most proteins can be altered by the binding of a chemical, which can be found by screening large libraries for compounds that specifically affect a biological, molecular or biochemical process. In addition to screens for chemicals which inhibit specific biological processes, chemical genetics can also be employed to find inhibitors of specific protein-protein interactions. Small molecules altering protein-protein interactions are valuable tools in probing protein-protein interactions. In this project, we aimed to identify chemicals that disrupt the COP9 signalosome. The CSN is an evolutionarily conserved eight-subunit protein complex whose most studied role is regulation of E3 ubiquitinligase activity. Mutants in subunits of the CSN undergo photomorphogenesis in darkness and accumulate high levels of pigments in both dark- and light-grown seedlings, and are defective in a wide range of important developmental and environmental-response pathways. Our working hypothesis was that specific molecules will interact with the CSN7 protein such that binding to its various interacting proteins will be inhibited. Such a molecule would inhibit either CSN assembly, or binding of CSN-interacting proteins, and thus specifically inhibit CSN function. We used an advanced chemical genetic screen for small-molecule-inhibitors of CSN7 protein-protein interactions. In our pilot study, following the screening of ~1200 unique compounds, we isolated four chemicals which reproducibly interfere with CSN7 binding to either CSN8 or CSN6.
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