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1.
Medicine (Baltimore) ; 103(10): e37446, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38457547

RESUMO

RATIONALE: Compound heterozygotes for deletional ß-thalassemia can be difficult to diagnose due to its diverse clinical presentations and no routine screenings. This can lead to disease progression and delay in treatment. PATIENT CONCERNS: We reported pedigree analysis and genetic research in a family with rare ß-thalassemia. DIAGNOSIS: Pedigree analysis and genetic research demonstrated that the patient was a compound heterozygote for ß-thalassemia CD17/Southeast Asian hereditary persistence of fetal hemoglobin deletion, inherited from the parents. Magnetic resonance imaging T2* examination revealed severe iron deposition in the liver. Echocardiography revealed endocardial cushion defect. INTERVENTIONS: The patient was treated with Deferasirox after receiving the final molecular genetic diagnosis. The initial once-daily dose of Deferasirox was 20 mg/kg/d. OUTCOMES: The patient discontinued the medication three months after the first visit. Two years later, the patient visited the Department of Hepatobiliary and Pancreatic Diseases. He was recommended to undergo splenectomy after surgical repair of the congenital heart disease. However, the patient refused surgical treatment because of the economic burden. LESSONS: We report that fetal hemoglobin is a sensitive indicator for screening large deletions of the ß-globin gene, which can be effectively confirmed by the multiplex ligation-dependent probe amplification assay. In non-transfusion-dependent thalassemia patients, iron status assessment should be regularly performed, and iron chelation treatment should be initiated early. This case will provide insights for the diagnosis of rare genotypes of ß-thalassemia and has important implications for genetic counseling.


Assuntos
Talassemia beta , Masculino , Humanos , Talassemia beta/genética , Talassemia beta/diagnóstico , Hemoglobina Fetal/genética , Linhagem , Deferasirox , População do Sudeste Asiático , Pesquisa em Genética , China , Ferro , Heterozigoto
2.
BMC Genom Data ; 25(1): 27, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38443836

RESUMO

OBJECTIVES: The black rhinoceros (Diceros bicornis) is an endangered mammal for which a captive breeding program is part of the conservation effort. Black rhinos in zoo's often suffer from chronic infections and heamochromatosis. Furthermore, breeding is hampered by low male fertility. To aid a research project studying these topics, we sequenced and assembled the genome of a captive male black rhino using ONT sequencing data only. DATA DESCRIPTION: This work produced over 100 Gb whole genome sequencing reads from whole blood. These were assembled into a 2.47 Gb draft genome consisting of 834 contigs with an N50 of 29.53 Mb. The genome annotation was lifted over from an available genome annotation for black rhino, which resulted in the retrieval of over 99% of gene features. This new genome assembly will be a valuable resource in for conservation genetic research in this species.


Assuntos
Pesquisa em Genética , Nariz , Masculino , Animais , Perissodáctilos/genética , Infecção Persistente , Projetos de Pesquisa
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(3): 377-384, 2024 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-38448032

RESUMO

Since genetic research entered the post-genomic era, the high heritability of language disorders has been confirmed. A variety of genetic-related diseases may cause various types of language disorders in children and/or adults. This article has summarized language disorders and their underlying mechanisms by searching the Web of Science database over the last decade, and combed the genetic researches for dyslexia, frontotemporal degeneration, specific language disorder, childhood speech apraxia and other single diseases that are strongly associated with the language disorders. It also provided a discussion over the co-occurrence of multiple diseases, with an aim to revealing the genetic association and/or pathogenetic mechanism in order to provide inspiration for the prevention, diagnosis, and treatment of language disorders.


Assuntos
Genômica , Transtornos da Linguagem , Adulto , Criança , Humanos , Transtornos da Linguagem/genética , Atrofia , Pesquisa em Genética
4.
BMC Med Ethics ; 25(1): 1, 2024 01 02.
Artigo em Inglês | MEDLINE | ID: mdl-38166828

RESUMO

BACKGROUND: Generally, there is unanimity about the value of community engagement in health-related research. There is also a growing tendency to view genetics and genomics research (GGR) as a special category of research, the conduct of which including community engagement (CE) as needing additional caution. One of the motivations of this study was to establish how differently if at all, we should think about CE in GGR. AIM: To assess the perspectives of genetics and genomics researchers in Uganda on CE in GGR. METHOD: A cross-sectional qualitative study was conducted at Makerere University and Uganda Virus Research Institute. Twenty-five individuals participated, the majority being male (sixteen). Participants included nineteen genetics and genomics researchers (researchers and research coordinators), two CE officers, three nurses and one nursing counsellor. Data were collected using in-depth interviews and analyzed in a thematic manner using NVivo version 12 Plus. STUDY FINDINGS: Thirteen of the respondents had conducted CE in their GGR in either a geographical and disease-specific community. Some respondents said CE principles are the same and there is no need for special consideration for CE in GGR. Others gave ethical issues in GGR that require special consideration for CE in such research and these were categorized into six themes: GGR is new to communities, Difficulty in communicating GGR by the researchers, Genes are shared in communities, Cultural sensitivities against GGR, Community attitude toward GGR, Some GGR studies take long to end, and Negotiation of research benefits. Special considerations for CE when conducting GGR were suggested and categorized into seven themes: creating awareness of GGR in communities, obtaining both community acceptance and individual consent, CE team composition, involve communities in solving GGR challenges, prolong CE in some GGR, develop guidelines for CE in GGR, and legal considerations on GGR. CONCLUSION: GGR was characterized by special issues that require special CE considerations for such research.


Assuntos
Pesquisa em Genética , Genômica , Masculino , Humanos , Feminino , Uganda , Estudos Transversais , Pesquisa Qualitativa
6.
BMC Genomics ; 25(1): 96, 2024 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-38262929

RESUMO

BACKGROUND: Angelica sinensis (Danggui), a renowned medicinal orchid, has gained significant recognition for its therapeutic effects in treating a wide range of ailments. Genome information serves as a valuable resource, enabling researchers to gain a deeper understanding of gene function. In recent times, the availability of chromosome-level genomes for A. sinensis has opened up vast opportunities for exploring gene functionality. Integrating multiomics data can allow researchers to unravel the intricate mechanisms underlying gene function in A. sinensis and further enhance our knowledge of its medicinal properties. RESULTS: In this study, we utilized genomic and transcriptomic data to construct a coexpression network for A. sinensis. To annotate genes, we aligned them with sequences from various databases, such as the NR, TAIR, trEMBL, UniProt, and SwissProt databases. For GO and KEGG annotations, we employed InterProScan and GhostKOALA software. Additionally, gene families were predicted using iTAK, HMMER, OrholoFinder, and KEGG annotation. To facilitate gene functional analysis in A. sinensis, we developed a comprehensive platform that integrates genomic and transcriptomic data with processed functional annotations. The platform includes several tools, such as BLAST, GSEA, Heatmap, JBrowse, and Sequence Extraction. This integrated resource and approach will enable researchers to explore the functional aspects of genes in A. sinensis more effectively. CONCLUSION: We developed a platform, named ASAP, to facilitate gene functional analysis in A. sinensis. ASAP ( www.gzybioinformatics.cn/ASAP ) offers a comprehensive collection of genome data, transcriptome resources, and analysis tools. This platform serves as a valuable resource for researchers conducting gene functional research in their projects, providing them with the necessary data and tools to enhance their studies.


Assuntos
Angelica sinensis , Genômica , Bases de Dados de Proteínas , Perfilação da Expressão Gênica , Pesquisa em Genética
7.
8.
Nat Rev Genet ; 25(2): 83-103, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37723347

RESUMO

Denisovans, a group of now extinct humans who lived in Eastern Eurasia in the Middle and Late Pleistocene, were first identified from DNA sequences just over a decade ago. Only ten fragmentary remains from two sites have been attributed to Denisovans based entirely on molecular information. Nevertheless, there has been great interest in using genetic data to understand Denisovans and their place in human history. From the reconstruction of a single high-quality genome, it has been possible to infer their population history, including events of admixture with other human groups. Additionally, the identification of Denisovan DNA in the genomes of present-day individuals has provided insights into the timing and routes of dispersal of ancient modern humans into Asia and Oceania, as well as the contributions of archaic DNA to the physiology of present-day people. In this Review, we synthesize more than a decade of research on Denisovans, reconcile controversies and summarize insights into their population history and phenotype. We also highlight how our growing knowledge about Denisovans has provided insights into our own evolutionary history.


Assuntos
Hominidae , Homem de Neandertal , Animais , Humanos , Homem de Neandertal/genética , Evolução Biológica , DNA , Pesquisa em Genética , Genoma Humano
9.
Am J Med Genet A ; 194(4): e63513, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38116711

RESUMO

A young couple applied for preconception counseling because of a case of congenital adrenal hyperplasia in the family. They were concerned about their risk of giving birth to a child with classic congenital adrenal hyperplasia. The case presented here demonstrates the complexity of the genetics of 21-hydroxylase deficiency and the way the clinical presentation should guide the genetic inquiry.


Assuntos
Hiperplasia Suprarrenal Congênita , Gravidez , Criança , Humanos , Feminino , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Pesquisa em Genética
10.
Microbiol Spectr ; 11(6): e0204623, 2023 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-37933989

RESUMO

IMPORTANCE: Group B Streptococcus (GBS) is a significant global cause of serious infections, most of which affect pregnant women, newborns, and infants. Studying GBS genetic mutant strains is a valuable approach for learning more about how these infections are caused and is a key step toward developing more effective preventative and treatment strategies. In this resource report, we describe a newly created library of defined GBS genetic mutants, containing over 1,900 genetic variants, each with a unique disruption to its chromosome. An indexed library of this scale is unprecedented in the GBS field; it includes strains with mutations in hundreds of genes whose potential functions in human disease remain unknown. We have made this resource freely available to the broader research community through deposition in a publicly funded bacterial maintenance and distribution repository.


Assuntos
Pesquisa em Genética , Streptococcus agalactiae , Lactente , Recém-Nascido , Humanos , Feminino , Gravidez , Mutação , Biblioteca Gênica , Streptococcus agalactiae/genética
12.
J Clin Oncol ; 41(31): 4905-4915, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37611220

RESUMO

PURPOSE: We developed a web-based education intervention as an alternative to predisclosure education with a genetic counselor (GC) to reduce participant burden and provider costs with return of genetic research results. METHODS: Women at three sites who participated in 11 gene discovery research studies were contacted to consider receiving cancer genetic research results. Participants could complete predisclosure education through web education or with a GC. Outcomes included uptake of research results, factors associated with uptake, and patient-reported outcomes. RESULTS: Of 819 participants, 178 actively (21.7%) and 167 passively (20.4%) declined return of results; 474 (57.9%) were enrolled. Most (60.3%) received results although this was lower than the 70% uptake we hypothesized. Passive and active decliners were more likely to be Black, to have less education, and to have not received phone follow-up after the invitation letter. Most participants selected web education (88.5%) as an alternative to speaking with a GC, but some did not complete or receive results. Knowledge increased significantly from baseline to other time points with no significant differences between those who received web versus GC education. There were no significant increases in distress between web and GC education. CONCLUSION: Interest in web-based predisclosure education for return of genetic research results was high although it did not increase uptake of results. We found no negative patient-reported outcomes with web education, suggesting that it is a viable alternative delivery model for reducing burdens and costs of returning genetic research results. Attention to attrition and lower uptake of results among Black participants and those with less formal education are important areas for future research.


Assuntos
Medidas de Resultados Relatados pelo Paciente , Telefone , Humanos , Feminino , Escolaridade , Pesquisa em Genética , Internet
13.
14.
Medicine (Baltimore) ; 102(30): e34417, 2023 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-37505157

RESUMO

BACKGROUND: About 70% to 80% of epilepsy cases are related to genetic factors. Genetic research has revealed the genetic etiology and molecular mechanisms of childhood epilepsy, which has increased our understanding of childhood epilepsy. METHODS: We searched the core collection of Web of Science for relevant papers on genetic research on childhood epilepsy published since 2010 on November 30, 2022. In this study, original articles and reviews in English were included. Using CiteSpace and VOSviewer online tools, we conducted a bibliometric analysis of the countries, institutions, journals, co-cited journals, co-cited references, keywords, and research hotspots. RESULTS: We evaluated 2500 literatures on epilepsy genomics in children. Among them, 96 countries published relevant articles, with the United States ranking the most. A total of 389 institutions have contributed relevant publications, and the University of Melbourne has published the most papers. Epilepsy journals were the most commonly cited. The references of papers were clustered into 9 categories: gene testing, epileptic encephalopathy, Dravet syndrome, focal cortical dysplasia, Rolandic epilepsy, copy number variation, ketogenic diet, monogenic epilepsy, and ptt2 mutation. Burst keywords represent the frontier of research, including developmental and epileptic encephalopathy (2021-2022), neurodevelopmental disorders (2020-2022), gene testing (2020-2022), and whole-exome sequencing (2019-2022). CONCLUSION: This study conducted a systematic and objective bibliometric analysis of the literature on epilepsy gene research in children. More importantly, it revealed the hot spot, frontier, and future developmental trends in the field. It will help pediatricians and geneticists further understand the dynamic evolution of genetic research on pediatric epilepsy.


Assuntos
Epilepsia Generalizada , Epilepsia Rolândica , Criança , Humanos , Variações do Número de Cópias de DNA , Bibliometria , Pesquisa em Genética
15.
Contemp Clin Trials ; 132: 107309, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37516165

RESUMO

BACKGROUND: A central challenge to precision medicine research efforts is the return of genetic research results in a manner that is effective, ethical, and efficient. Formal tests of alternate modalities are needed, particularly for racially marginalized populations that have historically been underserved in this context. METHODS: We are conducting a randomized controlled trial (RCT) to test scalable modalities for results return and to examine the clinical utility of returning genetic research results to a research cohort of Black women. The primary aim is to compare the efficacy of two communication modalities for results return: 1) a conventional modality that entails telephone disclosure by a Board-certified genetic counselor, and 2) an online self-guided modality that entails results return directly to participants, with optional genetic counselor follow-up via telephone. The trial is being conducted among participants in the Black Women's Health Study (BWHS), where targeted sequencing of 4000 participants was previously completed. RESULTS: Several ethical, legal, and social implications (ELSI) and challenges presented, which necessitated substantial revision of the original study protocol. Challenges included chain of custody, re-testing of research results in a CLIA lab, exclusion of VUS results, and digital literacy. Bioethical principles of autonomy, justice, non-maleficence, and beneficence were considered in the design of the study protocol. CONCLUSION: This study is uniquely situated to provide critical evidence on the effectiveness of alternative models for genetic results return and provide further insight into the factors influencing access and uptake of genetic information among U.S. Black women. CLINICALTRIALS: gov: NCT04407611.


Assuntos
Testes Genéticos , Neoplasias , Feminino , Humanos , Neoplasias/genética , Revelação , Comunicação , Pesquisa em Genética
16.
Front Public Health ; 11: 865786, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37283985

RESUMO

Introduction: The most challenging step in clinical research studies is patient recruitment. Many research studies do not reach their targets because of participant rejection. The purpose of this study was to assess patient as well as the community knowledge, motivation, and barriers to participate in genetic research. Methods: A cross-section study was conducted between September 2018 and February 2020 using face-to-face interviews with candidate patients from outpatient clinics at King Fahad Medical City (KFMC), Riyadh, Saudi Arabia. Additionally, an online survey was conducted to assess the community's knowledge, motivation and barriers to participate in genetic research studies. Results: In total, 470 patients were interviewed for this study, with 341 being successfully recruited for the face to face interview, and the other patients being refused owing to time constraints. The majority percentage of the respondents were females. The respondents' mean age was 30, and 52.6% reported having a college degree. The survey results from 388 participants illustrated that around 90% of the participants, participated voluntarily due to a good understanding of genetics studies. The majority held positive attitudes toward being part of genetic research, which exceeded the reported motivation score of >75%. The survey indicated that >90% of individuals were willing to participate to acquire therapeutic benefits or to receive continued aftercare. However, 54.6% of survey participants were worried about the side effects and the risks involved in genetic testing. A higher proportion (71.4%) of respondents reported that lack of knowledge about genetic research was one of the barriers to rejecting participation. Conclusion: Respondents reported relatively high motivation and knowledge for participation in genetic research. However, study participants reported "do not know enough about genetic research" and "lack of time during clinic visit" as a barrier for participation in genetic research.


Assuntos
Pesquisa em Genética , Motivação , Feminino , Humanos , Masculino , Inquéritos e Questionários , Escolaridade , Estudos Transversais
18.
PLoS One ; 18(4): e0284356, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37043443

RESUMO

Advances in genetics has led to a better understanding of both genetic and environmental contributions to psychiatric mental health disorders. But psychiatric genetics research is predominantly Eurocentric, and individuals of non-European ancestry continue to be significantly underrepresented in research studies with potential to worsen existing mental health disparities. The objective of this study was to examine factors associated with genetic study participation in a schizophrenia sample. The study sample was extracted from the Clinical Antipsychotics Trial of Intervention Effectiveness (CATIE) schizophrenia study which enrolled 1493 patients with chronic schizophrenia between the ages of 18-65 years and incorporated an optional genetic sub-study. Using a logistic regression model (N = 1249), we examined sociodemographic and clinical variables that were independently associated with the outcome i.e., participation in the genetic sub-study. The genetic sub-study had a lower proportion of Black (30% in genetic vs 40% in CATIE overall) and other race (4% vs 6%) participants. Increased severity of psychopathology symptoms (odds ratio [OR] = 0.78, p = 0.004) decreased the odds whereas better reasoning scores (OR = 1.16, p = 0.036) increased the odds of genetic study participation. Compared to Black participants, White participants were significantly more likely to participate in the genetic sub-study (OR = 1.43, p = 0.009). Clinical factors in addition to race significantly impact genetic study participation of individuals with chronic schizophrenia. Our findings highlight the need for future research that examines the interactive effects of race and clinical factors such as symptom severity on psychiatrically ill individuals' choice to participate in genetics studies and to identify targeted strategies to increase equitable representation in psychiatric genetics research.


Assuntos
Antipsicóticos , Esquizofrenia , Adolescente , Adulto , Idoso , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Antipsicóticos/uso terapêutico , População Negra , Pesquisa em Genética , Psicopatologia , Esquizofrenia/tratamento farmacológico , Esquizofrenia/genética , Esquizofrenia/complicações , População Branca
19.
Sleep Med Rev ; 69: 101769, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36933344

RESUMO

During the last decade quantitative and molecular genetic research on sleep has increased considerably. New behavioural genetics techniques have marked a new era for sleep research. This paper provides a summary of the most important findings from the last ten years, on the genetic and environmental influences on sleep and sleep disorders and their associations with health-related variables (including anxiety and depression) in humans. In this review we present a brief summary of the main methods in behaviour genetic research (such as twin and genome-wide association studies). We then discuss key research findings on: genetic and environmental influences on normal sleep and sleep disorders, as well as on the association between sleep and health variables (highlighting a substantial role for genes in individual differences in sleep and their associations with other variables). We end by discussing future lines of enquiry and drawing conclusions, including those focused on problems and misconceptions associated with research of this type. In this last decade our knowledge about genetic and environmental influences on sleep and its disorders has expanded. Both, twin and genome-wide association studies show that sleep and sleep disorders are substantially influenced by genetic factors and for the very first time multiple specific genetic variants have been associated with sleep traits and disorders.


Assuntos
Estudo de Associação Genômica Ampla , Transtornos do Sono-Vigília , Humanos , Sono/genética , Transtornos do Sono-Vigília/genética , Transtornos do Sono-Vigília/complicações , Pesquisa em Genética , Biologia Molecular
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