Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 138
Filtrar
1.
Lasers Surg Med ; 54(7): 994-1001, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35652907

RESUMO

BACKGROUND AND OBJECTIVES: We previously developed a real-time fluorescence imaging topography scanning (RFITS) system for intraoperative multimodal imaging, image-guided surgery, and dynamic surgical navigation. The RFITS can capture intraoperative fluorescence, color reflectance, and surface topography concurrently and offers accurate registration of multimodal images. The RFITS prototype is a promising system for multimodal image guidance and intuitive 3D visualization. In the current study, we investigated the capability of the RFITS system in intraoperative fluorescence vascular angiography for real-time assessment of tissue perfusion. STUDY DESIGN/MATERIALS AND METHODS: We conducted ex vivo imaging of fluorescence perfusion in a soft casting life-sized human brain phantom. Indocyanine green (ICG) solutions diluted in dimethyl sulfoxide (DMSO) and human serum were injected into the brain phantom through the vessel simulating tube (2 ± 0.2 mm inner diameter) by an adjustable flow peristaltic pump. To demonstrate the translational potential of the system, an ICG/DMSO solution was perfused into blood vessels of freshly harvested porcine ears (n = 9, inner diameter from 0.56 to 1.27 mm). We subsequently performed in vivo imaging of fluorescence-perfused vascular structures in rodent models (n = 10). 5 mg/ml ICG solutions prepared in sterile water were injected via the lateral tail vein. All targets were imaged by the RFITS prototype at a working distance of 350-400 mm. RESULTS: 3D visualization of 10 µg/ml ICG-labeled continuous moving serum in the brain phantom was obtained at an average signal-to-background ratio (SBR) of 1.74 ± 0.03. The system was able to detect intravenously diffused fluorescence in porcine tissues with an average SBR of 2.23 ± 0.22. The RFITS prototype provided real-time monitoring of tissue perfusion in rats after intravenous (IV) administration of ICG. The maximum fluorescence intensity (average SBR = 1.94 ± 0.16, p < 0.001) was observed at Tpeak of ~30 seconds after the ICG signal was first detected (average SBR = 1.19 ± 0.13, p < 0.01). CONCLUSIONS: We have conducted preclinical studies to demonstrate the feasibility of applying the RFITS system in real-time fluorescence angiography and tissue perfusion assessment. Our system provides fluorescence/color composite images for intuitive visualization of tissue perfusion with 3D perception. The findings pave the way for future clinical translation.


Assuntos
Dimetil Sulfóxido , Verde de Indocianina , Animais , Corantes , Angiofluoresceinografia , Fluorescência , Humanos , Imagem Óptica , Perfusão , Ratos , Suínos
2.
FASEB J ; 36 Suppl 12022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35554521

RESUMO

While the yeast Saccharomyces cerevisiae is a well-studied organism with its genome fully sequenced two decades ago, there remain several hundred uncharacterized open reading frames, ORFans, with no significant sequence homology to other genes. As ORFan roles cannot be determined solely through sequence homology, their functions remain a mystery until both in vitroand in vivobiochemical and cell biology experiments are performed. In collaboration with the Yeast ORFan Gene Project, we used bioinformatics modules to initially characterize one such ORFan, YIL165C.We found that together with the gene immediately preceding it, YIL164C (NIT1), the two genes have significant homology to the nitrilase superfamily of proteins but have low sequence homology to the other two S. cerevisiae nitrilases NIT2 and NIT3. Interestingly, the YIL164C protein alone contains both the conserved catalytic triad and a region that shares homology with prokaryotic nitrilases that specifically target aromatic, rather than aliphatic, nitrile substrates. We additionally experimentally verified that lab strains of S. cerevisiae, such as BY4741, SEY6210, and GA74, have a bonafide stop codon breaking up the two proteins in clones from both genomic DNA and mRNA, while the brewing yeast strain WLP001 (White Labs) and other related yeast strains have a single nucleotide polymorphism (SNP; A to G transition) allowing these two proteins to be expressed as a single, continuous polypeptide chain. To understand the function of both the full-length YIL164C/YIL165C and the truncated YIL164C protein, we expressed and purified the proteins in bacteria and began initial studies to understand their substrate preference. We hope to identify distinctions in activity, or the lack thereof, between the longer and the truncated proteins. Understanding these enzymes in vitro will provide clues to their in vivo functions and the evolutionary relationships among genes in this superfamily.

3.
Annu Rev Genomics Hum Genet ; 23: 383-412, 2022 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-35483406

RESUMO

Variations in the form of the human face, which plays a role in our individual identities and societal interactions, have fascinated scientists and artists alike. Here, we review our current understanding of the genetics underlying variation in craniofacial morphology and disease-associated dysmorphology, synthesizing decades of progress on Mendelian syndromes in addition to more recent results from genome-wide association studies of human facial shape and disease risk. We also discuss the various approaches used to phenotype and quantify facial shape, which are of particular importance due to the complex, multipartite nature of the craniofacial form. We close by discussing how experimental studies have contributed and will further contribute to our understanding of human genetic variation and then proposing future directions and applications for the field.


Assuntos
Estudo de Associação Genômica Ampla , Humanos , Fenótipo
4.
Eur J Cancer Care (Engl) ; 31(4): e13590, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35393746

RESUMO

OBJECTIVE: Following a review of the existing body of literature, this study aimed to explore the need for a breast cancer awareness intervention specifically targeted at women with mild/moderate levels of intellectual disability (ID) and provide perspectives on the preferred processes and content underpinning an intervention. METHODS: A qualitative, descriptive design using semi-structured, individual (n = 5) and focus group (n = 5) interviews were used to engage with a non-probability, purposive sample of key stakeholders (n = 25) including women with mild/moderate levels of ID, caregivers and healthcare professionals. Data were analysed using qualitative content analysis. RESULTS: Findings highlighted that an educational intervention should focus on breast awareness as opposed to breast cancer awareness. Additionally, findings identified that a combined breast awareness and healthy living intervention could be effective. However, the intervention needs to have a multimodal, hands-on, person-centred approach to learning which is underpinned by theory. Furthermore, integrating the caregivers and healthcare professionals into the intervention is recommended. CONCLUSION: Findings from this study provide a foundation for developing and implementing a theoretically underpinned, multimodal, breast awareness and healthy living educational intervention for women with mild/moderate levels of ID.


Assuntos
Neoplasias da Mama , Deficiência Intelectual , Cuidadores , Feminino , Educação em Saúde , Humanos , Pesquisa Qualitativa
5.
Pediatr Emerg Care ; 2022 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-35477928

RESUMO

ABSTRACT: Cardiac arrest is an infrequent but high-stakes scenario in pediatrics. Manual central pulse checks are unreliable. Point-of-care ultrasound is a noninvasive technique to visualize the heart and central vessels during resuscitation. We describe 2 cases in which point-of-care ultrasound helped aid management decisions in pediatric cardiac arrest.

6.
Cancers (Basel) ; 14(8)2022 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-35454817

RESUMO

Gastroenteropancreatic neuroendocrine neoplasms (GEP NENs) are rare cancers consisting of neuroendocrine carcinomas (NECs) and neuroendocrine tumors (NETs), which have been increasing in incidence in recent years. Few cell lines and pre-clinical models exist for studying GEP NECs and NETs, limiting the ability to discover novel imaging and treatment modalities. To address this gap, we isolated tumor cells from cryopreserved patient GEP NECs and NETs and injected them into the flanks of immunocompromised mice to establish patient-derived xenograft (PDX) models. Two of six mice developed tumors (NEC913 and NEC1452). Over 80% of NEC913 and NEC1452 tumor cells stained positive for Ki67. NEC913 PDX tumors expressed neuroendocrine markers such as chromogranin A (CgA), synaptophysin (SYP), and somatostatin receptor-2 (SSTR2), whereas NEC1452 PDX tumors did not express SSTR2. Exome sequencing revealed loss of TP53 and RB1 in both NEC tumors. To demonstrate an application of these novel NEC PDX models for SSTR2-targeted peptide imaging, the NEC913 and NEC1452 cells were bilaterally injected into mice. Near infrared-labelled octreotide was administered and the fluorescent signal was specifically observed for the NEC913 SSTR2 positive tumors. These 2 GEP NEC PDX models serve as a valuable resource for GEP NEN therapy testing.

7.
J Correct Health Care ; 28(3): 148-154, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35263179

RESUMO

The opioid epidemic in the United States is financially, physically, and emotionally costly. Juvenile residents in detention settings witness overdose through personal opioid use or that of family or friends. Educational programming was developed for residents in a juvenile temporary detention center to increase knowledge of opioid overdose and nonopioid misuse. Using pre-post group surveys, we evaluated knowledge of opioid overdose, naloxone, and attitudes. Most residents recognized opioids and other substances by name, felt comfortable in their ability to recognize opioid overdose symptoms, and knew how to assist. Youth residents may be less likely to use opioids and more likely to become first responders in an overdose situation. However, some would not intervene or call for help. Instead, a potential conflict for themselves was perceived.


Assuntos
Overdose de Drogas , Overdose de Opiáceos , Transtornos Relacionados ao Uso de Opioides , Adolescente , Analgésicos Opioides/uso terapêutico , Overdose de Drogas/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Naloxona/uso terapêutico , Antagonistas de Entorpecentes/uso terapêutico , Transtornos Relacionados ao Uso de Opioides/tratamento farmacológico , Estados Unidos
8.
J Pediatr Health Care ; 36(3): 218-224, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34776326

RESUMO

INTRODUCTION: Health literacy is a nationwide public health concern. Low health literacy in adolescents is related to increased adolescent high-risk behaviors, which can negatively affect their overall health. METHOD: A quality improvement health literacy project was developed, implemented, and evaluated in a juvenile temporary detention center. Stakeholders identified pertinent health-related topics for discussion, including female body anatomy, sexual health, consent, pornography, sex trafficking, smoking, and anger management. Toolkits and pretest/posttest questionnaires guided weekly group sessions. Youth engaged in content during each session. RESULTS: Group health literacy scores were examined to evaluate the program. Group comments were debriefed by facilitators after each session; 119 youth residents participated. Positive increases in health literacy and health knowledge were observed in all sessions for all groups. DISCUSSION: Interactive health education programs for incarcerated youth can improve their health literacy and health knowledge and begin a path to decrease health inequities in this vulnerable population.


Assuntos
Letramento em Saúde , Saúde Sexual , Adolescente , Literatura Erótica , Feminino , Educação em Saúde , Humanos , Prisões Locais
9.
PLoS Genet ; 17(8): e1009695, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34411106

RESUMO

Facial morphology is highly variable, both within and among human populations, and a sizable portion of this variation is attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects of normal-range facial variation. Most of these loci have been detected in Europeans, with few studies focusing on other ancestral groups. Consequently, the degree to which facial traits share a common genetic basis across diverse sets of humans remains largely unknown. We therefore investigated the genetic basis of facial morphology in an East African cohort. We applied an open-ended data-driven phenotyping approach to a sample of 2,595 3D facial images collected on Tanzanian children. This approach segments the face into hierarchically arranged, multivariate features that capture the shape variation after adjusting for age, sex, height, weight, facial size and population stratification. Genome scans of these multivariate shape phenotypes revealed significant (p < 2.5 × 10-8) signals at 20 loci, which were enriched for active chromatin elements in human cranial neural crest cells and embryonic craniofacial tissue, consistent with an early developmental origin of the facial variation. Two of these associations were in highly conserved regions showing craniofacial-specific enhancer activity during embryological development (5q31.1 and 12q21.31). Six of the 20 loci surpassed a stricter threshold accounting for multiple phenotypes with study-wide significance (p < 6.25 × 10-10). Cross-population comparisons indicated 10 association signals were shared with Europeans (seven sharing the same associated SNP), and facilitated fine-mapping of causal variants at previously reported loci. Taken together, these results may point to both shared and population-specific components to the genetic architecture of facial variation.


Assuntos
/genética , Face/anatomia & histologia , Estudo de Associação Genômica Ampla/métodos , Locos de Características Quantitativas , /genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Polimorfismo de Nucleotídeo Único , Tanzânia , Adulto Jovem
10.
J Pediatr Health Care ; 35(5): 461-470, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34210554

RESUMO

INTRODUCTION: The American Academy of Pediatrics created evidence-based guidelines that encourage early identification and referral for children with developmental delays. Although pediatric primary care providers are poised to link 3-to-5-year-old children to school-based services, there are gaps in making referrals. METHOD: Educational dissemination of streamlined referral packets was introduced. Knowledge and perceived confidence were measured following an educational presentation. Retrospective chart reviews compared referral rates to preschool special education services when developmental delays were identified. RESULTS: Mean pretest to posttest knowledge and perceived confidence to refer children to preschool special education increased following education. Referral rates for 3-5 years-old by pediatric primary care providers doubled during the initial 8-week implementation period and remained constant 9 months later. DISCUSSION: Educational dissemination of a streamlined referral process in pediatric primary care is a sustainable approach that ensures preschool-aged children with developmental delays receive timely referrals for further school-based evaluations and interventions.


Assuntos
Pediatria , Encaminhamento e Consulta , Pré-Escolar , Educação Especial , Humanos , Atenção Primária à Saúde , Estudos Retrospectivos
11.
Sci Rep ; 11(1): 12175, 2021 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-34108542

RESUMO

Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. Facial anthropometric growth curves or standards of single inter-landmark measurements have traditionally supported assessments of normal and abnormal facial shape, for both clinical and research applications. However, these fail to capture the full complexity of facial shape. With the increasing availability of 3D photographs, methods of assessment that take advantage of the rich information contained in such images are needed. In this article we derive and present open-source three-dimensional (3D) growth curves of the human face. These are sequences of age and sex-specific expected 3D facial shapes and statistical models of the variation around the expected shape, derived from 5443 3D images. We demonstrate the use of these growth curves for assessing patients and show that they identify normal and abnormal facial morphology independent from age-specific facial features. 3D growth curves can facilitate use of state-of-the-art 3D facial shape assessment by the broader clinical and biomedical research community. This advance in phenotype description will support clinical diagnosis and the understanding of disease pathogenesis including genotype-phenotype relations.


Assuntos
Anormalidades Múltiplas/patologia , Anormalidades Craniofaciais/patologia , Face/patologia , Imageamento Tridimensional/métodos , Modelos Estatísticos , Atrofia Muscular/patologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antropometria , Estudos de Casos e Controles , Criança , Pré-Escolar , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/metabolismo , Face/anormalidades , Feminino , Seguimentos , Gráficos de Crescimento , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Atrofia Muscular/genética , Atrofia Muscular/metabolismo , Fenótipo , Prognóstico , Adulto Jovem
12.
PLoS Genet ; 17(5): e1009528, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33983923

RESUMO

The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report on a data-driven, family-informed strategy to facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D facial shape variability into amendable univariate measurements, while preserving its structurally complex nature. We performed a biometric identification of siblings in a sample of 424 children, defining 1,048 sib-shared facial traits. Subsequent quantification and analyses in an independent European cohort (n = 8,246) demonstrated significant heritability for a subset of traits (0.17-0.53) and highlighted 218 genome-wide significant loci (38 also study-wide) associated with facial variation shared by siblings. These loci showed preferential enrichment for active chromatin marks in cranial neural crest cells and embryonic craniofacial tissues and several regions harbor putative craniofacial genes, thereby enhancing our knowledge on the genetic architecture of normal-range facial variation.


Assuntos
Identificação Biométrica , Face/anatomia & histologia , Genômica , Imageamento Tridimensional , Herança Multifatorial/genética , Fenótipo , Irmãos , Adolescente , Criança , Pré-Escolar , Anormalidades Craniofaciais/genética , Conjuntos de Dados como Assunto , Europa (Continente)/etnologia , Face/anormalidades , Face/embriologia , Feminino , Estudos de Associação Genética , Humanos , Masculino , /genética
13.
J Pediatr Nurs ; 59: 143-150, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33887684

RESUMO

BACKGROUND/PROBLEM: Failed patient care appointments (no-shows) can lead to negative patient health outcomes and increased healthcare costs. There is evidence that telehealth is a safe, effective, and a cost-efficient option for those unable to attend in-person visits. No-show rates in pediatrics are unique due to reliance on caregivers to attend appointments. A pediatric asthma mobile van, which provides specialty care to children at schools in low-income communities in Chicago, was experiencing a high no-show rate. METHODS/INTERVENTIONS: Building on evidence that the use of telehealth technology improves access to care, the purpose of this quality improvement initiative was to implement a new telehealth option for off-site parents to attend their child's on-site appointment. The designed initiative followed the Plan-Do-Study-Act model with three small phases of change. The first phase assessed telehealth interest using a Likert-scale questionnaire. The second phase designed and implemented a telehealth option and collected no-show rates pre- and post- implementation. The final phase assessed parental satisfaction using a Telehealth Usability Questionnaire. RESULTS: Over 50% of participants stated interest in the parent off-site telehealth option for their child's appointment. No-show rates decreased from 36% to 7.9%-18% per month over a 10-month implementation period. Post-telehealth surveys completed by parents revealed this version of telehealth improved access to care for their child, saved them time, and was simple to use. CONCLUSION: No-show rates decreased after successful implementation of an innovative approach to telehealth. This parent off-site telehealth model can be another approach toward increasing pediatric healthcare access.


Assuntos
Asma , Pediatria , Telemedicina , Instituições de Assistência Ambulatorial , Asma/terapia , Criança , Humanos , Unidades Móveis de Saúde
16.
Nat Genet ; 53(6): 830-839, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33821002

RESUMO

Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face cross-talk. Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain-face genome-wide association study signals and variants affecting behavioral-cognitive traits. These results suggest that early in embryogenesis, the face and brain mutually shape each other through both structural effects and paracrine signaling, but this interplay may not impact later brain development associated with cognitive function.


Assuntos
Encéfalo/anatomia & histologia , Face/anatomia & histologia , Padrões de Herança/genética , Adulto , Idoso , Comportamento , Cognição , Feminino , Loci Gênicos , Estudo de Associação Genômica Ampla , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos Mentais/genética , Pessoa de Meia-Idade , Análise Multivariada
17.
Forensic Sci Int Genet ; 53: 102507, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33831816

RESUMO

The prediction of human externally visible characteristics (EVCs) based solely on DNA information has become an established approach in forensic and anthropological genetics in recent years. While for a large set of EVCs, predictive models have already been established using multinomial logistic regression (MLR), the prediction performances of other possible classification methods have not been thoroughly investigated thus far. Motivated by the question to identify a potential classifier that outperforms these specific trait models, we conducted a systematic comparison between the widely used MLR and three popular machine learning (ML) classifiers, namely support vector machines (SVM), random forest (RF) and artificial neural networks (ANN), that have shown good performance outside EVC prediction. As examples, we used eye, hair and skin color categories as phenotypes and genotypes based on the previously established IrisPlex, HIrisPlex, and HIrisPlex-S DNA markers. We compared and assessed the performances of each of the four methods, complemented by detailed hyperparameter tuning that was applied to some of the methods in order to maximize their performance. Overall, we observed that all four classification methods showed rather similar performance, with no method being substantially superior to the others for any of the traits, although performances varied slightly across the different traits and more so across the trait categories. Hence, based on our findings, none of the ML methods applied here provide any advantage on appearance prediction, at least when it comes to the categorical pigmentation traits and the selected DNA markers used here.


Assuntos
DNA/genética , Cor de Olho/genética , Genética Forense/métodos , Cor de Cabelo/genética , Aprendizado de Máquina , Pigmentação da Pele/genética , Algoritmos , Conjuntos de Dados como Assunto , Marcadores Genéticos , Humanos , Modelos Logísticos , Fenótipo , Polimorfismo de Nucleotídeo Único
18.
Symmetry (Basel) ; 13(2)2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33664983

RESUMO

BACKGROUND: Fluctuating asymmetry is often used as an indicator of developmental instability, and is proposed as a signal of genetic quality. The display of prominent masculine phenotypic features, which are a direct result of high androgen levels, is also believed to be a sign of genetic quality, as these hormones may act as immunosuppressants. Fluctuating asymmetry and masculinity are therefore expected to covary. However, there is lack of strong evidence in the literature regarding this hypothesis. MATERIALS AND METHODS: In this study, we examined a large dataset of high-density 3D facial scans of 1260 adults (630 males and 630 females). We mapped a high-density 3D facial mask onto the facial scans in order to obtain a high number of quasi-landmarks on the faces. Multi-dimensional measures of fluctuating asymmetry were extracted from the landmarks using Principal Component Analysis, and masculinity/femininity scores were obtained for each face using Partial Least Squares. The possible correlation between these two qualities was then examined using Pearson's coefficient and Canonical Correlation Analysis. RESULTS: We found no correlation between fluctuating asymmetry and masculinity in men. However, a weak but significant correlation was found between average fluctuating asymmetry and masculinity in women, in which feminine faces had higher levels of fluctuating asymmetry on average. This correlation could possibly point to genetic quality as an underlying mechanism for both asymmetry and masculinity; however, it might also be driven by other fitness or life history traits, such as fertility. CONCLUSIONS: Our results question the idea that fluctuating asymmetry and masculinity should be (more strongly) correlated in men, which is in line with the recent literature. Future studies should possibly focus more on the evolutionary relevance of the observed correlation in women.

19.
Front Genet ; 12: 626403, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33692830

RESUMO

Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/P) show distinctive facial features. The presence of this facial endophenotype is potentially an expression of underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore this hypothesis, we first partitioned the face into 63 partially overlapping regions representing global-to-local facial morphology and then defined endophenotypic traits by contrasting the 3D facial images from 264 unaffected parents of individuals with NSCL/P versus 3,171 controls. We observed distinct facial features between parents and controls across 59 global-to-local facial segments at nominal significance (p ≤ 0.05) and 52 segments at Bonferroni corrected significance (p < 1.2 × 10-3), respectively. Next, we quantified these distinct facial features as univariate traits in another dataset of 8,246 unaffected European individuals and performed a genome-wide association study. We identified 29 independent genetic loci that were associated (p < 5 × 10-8) with at least one of the tested endophenotypic traits, and nine genetic loci also passed the study-wide threshold (p < 8.47 × 10-10). Of the 29 loci, 22 were in proximity of loci previously associated with normal facial variation, 18 were near genes that show strong evidence in orofacial clefting (OFC), and another 10 showed some evidence in OFC. Additionally, polygenic risk scores for NSCL/P showed associations with the endophenotypic traits. This study thus supports the hypothesis of a shared genetic architecture of normal facial development and OFC.

20.
J Intellect Disabil ; : 1744629521999548, 2021 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-33769130

RESUMO

INTRODUCTION: Incidence rates for developing breast cancer are similar for women regardless of intellectual ability. However, women with an intellectual disability present with advanced breast cancers, which often have a poor prognosis. METHOD: A structured narrative review of the literature was performed to explore the concepts of breast awareness and breast cancer awareness and subsequently, identify barriers to breast cancer awareness encountered by women with an intellectual disability. RESULTS: A total of 22 studies involving people with varying levels of intellectual disability informed this review. The barriers to breast cancer awareness encountered by women with an intellectual disability include: lack of their understanding, the role of the carer and literacy issues. CONCLUSION: Identifying the barriers to breast cancer awareness for women with an intellectual disability will help to facilitate breast cancer awareness which has the potential to result in better long-term outcomes through an early diagnosis of breast cancer.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...