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1.
bioRxiv ; 2024 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-39345633

RESUMO

Predicting phenotypes from a combination of genetic and environmental factors is a grand challenge of modern biology. Slight improvements in this area have the potential to save lives, improve food and fuel security, permit better care of the planet, and create other positive outcomes. In 2022 and 2023 the first open-to-the-public Genomes to Fields (G2F) initiative Genotype by Environment (GxE) prediction competition was held using a large dataset including genomic variation, phenotype and weather measurements and field management notes, gathered by the project over nine years. The competition attracted registrants from around the world with representation from academic, government, industry, and non-profit institutions as well as unaffiliated. These participants came from diverse disciplines include plant science, animal science, breeding, statistics, computational biology and others. Some participants had no formal genetics or plant-related training, and some were just beginning their graduate education. The teams applied varied methods and strategies, providing a wealth of modeling knowledge based on a common dataset. The winner's strategy involved two models combining machine learning and traditional breeding tools: one model emphasized environment using features extracted by Random Forest, Ridge Regression and Least-squares, and one focused on genetics. Other high-performing teams' methods included quantitative genetics, classical machine learning/deep learning, mechanistic models, and model ensembles. The dataset factors used, such as genetics; weather; and management data, were also diverse, demonstrating that no single model or strategy is far superior to all others within the context of this competition.

2.
Rev Geophys ; 58(4): e2019RG000678, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33015673

RESUMO

We assess evidence relevant to Earth's equilibrium climate sensitivity per doubling of atmospheric CO2, characterized by an effective sensitivity S. This evidence includes feedback process understanding, the historical climate record, and the paleoclimate record. An S value lower than 2 K is difficult to reconcile with any of the three lines of evidence. The amount of cooling during the Last Glacial Maximum provides strong evidence against values of S greater than 4.5 K. Other lines of evidence in combination also show that this is relatively unlikely. We use a Bayesian approach to produce a probability density function (PDF) for S given all the evidence, including tests of robustness to difficult-to-quantify uncertainties and different priors. The 66% range is 2.6-3.9 K for our Baseline calculation and remains within 2.3-4.5 K under the robustness tests; corresponding 5-95% ranges are 2.3-4.7 K, bounded by 2.0-5.7 K (although such high-confidence ranges should be regarded more cautiously). This indicates a stronger constraint on S than reported in past assessments, by lifting the low end of the range. This narrowing occurs because the three lines of evidence agree and are judged to be largely independent and because of greater confidence in understanding feedback processes and in combining evidence. We identify promising avenues for further narrowing the range in S, in particular using comprehensive models and process understanding to address limitations in the traditional forcing-feedback paradigm for interpreting past changes.

3.
Artigo em Inglês | MEDLINE | ID: mdl-31662877

RESUMO

BACKGROUND: Raqqa Governorate, Syria has recently been affected by overlapping conflicts related to the Syrian Civil war and occupation by ISIS, resulting in widespread displacement and disruption of economic livelihoods. However, little information is currently known about mental health needs and risk factors among women. Therefore, this study sought to examine potential risk factors for depressive symptoms among married women living in northern Syria. METHODS: Data were collected between March and April 2018 as part of an evaluation of an International Rescue Committee cash transfer program targeted toward vulnerable households. Using cross-sectional data from 214 married women participating in the program, linear regression models were generated to explore the associations between depressive symptoms [nine-item Patient Health Questionnaire (PHQ-9)] and its potential risk factors, including food insecurity, perceived deprivation of basic needs [the Humanitarian Emergency Settings Perceived Needs Scale (HESPER) scale], and past-3-month intimate partner violence (IPV). RESULTS: The average depressive symptom score was 10.5 (s.d.: 4.9; range: 2-27). In the final adjusted model, any form of recent IPV (ß = 2.25; 95% CI 0.92-3.57; p = 0.001), severe food insecurity (ß = 1.62; 95% CI 0.27-2.96; p = 0.02) and perceived needs (ß = 0.38; 95% CI 0.18-0.57; p = 0.0002) were associated with an increase in depressive symptoms. CONCLUSION: Study findings point to the need to address the mental health needs of women in conflict-affected areas of Syria. Programming to address risk factors for depression, including IPV and other factors associated with daily stressors such as food insecurity and deprivation of basic needs, may be effective in reducing depression in this population.

4.
Injury ; 49(10): 1841-1847, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30100247

RESUMO

AIM: The aim of this study was to evaluate the long-term clinical outcomes and complications following an acetabular fracture associated with a posterior hip dislocation compared to those without dislocation. PATIENTS & METHODS: A retrospective cohort study of 113 patients (mean age 42 (14-95), 77% male) with acetabular fracture dislocations compared to 367 patients with acetabular fractures without dislocation (mean age 54 (16-100), 66% male) treated from 1988 to 2010. Patient characteristics, complications, reoperations, and conversion to total hip arthroplasty (THA) were recorded. Long term patient reported outcomes (Oxford Hip Score and SF-12) were measured at mean follow up 9.7 years (5-26). RESULTS: At long-term follow up 12/113 (11%) patients had died and 22/113 (19%) were lost. Isolated posterior wall fracture was the most common fracture associated with dislocation. Patients with dislocation were more likely to be younger and male with higher Injury Severity Scores (ISS). There was no significant difference in radiographic post-traumatic osteoarthritis development between fractures with and without dislocation (p = 0.246). Sciatic nerve palsy (12% Vs 1%, p < 0.001) and avascular necrosis (AVN) (11% Vs 1%, p < 0.001) were more common when dislocation was present. AVN was associated with increasing age and hypotension on arrival to the emergency department. Ten-year native hip survival was worse following fracture dislocations compared to fractures without dislocation: 75.1% (65.7-84.5 95% CI) Vs 90.7% (87.0-94.4), p < 0.001. Significant predictors of THA requirement were older age, particularly age >55 years at fracture, and increased ISS. Long-term OHS was worse in fractures with dislocations (33.6 ± 13.1 Vs 37.0 ± 14.0, p = 0.016). CONCLUSION: Acetabular fractures with an associated dislocation have worse long-term functional outcomes with higher rates of complications and conversion to late THA compared to acetabular fractures without a dislocation.


Assuntos
Acetábulo/lesões , Artroplastia de Quadril/estatística & dados numéricos , Luxação do Quadril/cirurgia , Fraturas do Quadril/cirurgia , Complicações Pós-Operatórias , Acetábulo/fisiopatologia , Acetábulo/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Necrose da Cabeça do Fêmur/etiologia , Seguimentos , Luxação do Quadril/fisiopatologia , Fraturas do Quadril/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/etiologia , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Neuropatia Ciática/etiologia , Resultado do Tratamento , Adulto Jovem
5.
Confl Health ; 12: 1, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29449879

RESUMO

BACKGROUND: Sexual violence is associated with a multitude of poor physical, emotional, and social outcomes. Despite reports of stigma by sexual violence survivors, limited evidence exists on effective strategies to reduce stigma, particularly in conflict-affected settings. We sought to assess the effect of group Cognitive Processing Therapy (CPT) on stigma and the extent to which stigma might moderate the effectiveness of CPT in treating mental health problems among survivors of sexual violence in the Democratic Republic of Congo. METHODS: Data were drawn from 405 adult female survivors of sexual violence reporting mental distress and poor functioning in North and South Kivu. Women were recruited through organizations providing psychosocial support and then cluster randomized to group CPT or individual support. Women were assessed at baseline, the end of treatment, and again six months later. Assessors were masked to women's treatment assignment. Linear mixed-effect regression models were used to estimate (1) the effect of CPT on feelings of perceived and internalized (felt) stigma, and (2) whether felt stigma and discrimination (enacted stigma) moderated the effects of CPT on combined depression and anxiety symptoms, posttraumatic stress, and functional impairment. RESULTS: Participants receiving CPT experienced moderate reductions in felt stigma relative to those in individual support (Cohen's D = 0.44, p = value = 0.02) following the end of treatment, though this difference was no longer significant six-months later (Cohen's D = 0.45, p = value = 0.12). Neither felt nor enacted stigma significantly moderated the effect of CPT on mental health symptoms or functional impairment. CONCLUSIONS: Group cognitive-behavioral based therapies may be an effective stigma reduction tool for survivors of sexual violence. Experiences and perceptions of stigma did not hinder therapeutic effects of group psychotherapy on survivors' mental health. TRIAL REGISTRATION: ClinicalTrials.gov NCT01385163.

6.
Artigo em Inglês | MEDLINE | ID: mdl-29230318

RESUMO

BACKGROUND: Women living in war-affected contexts face high levels of gender-based violence, including intimate partner violence (Stark & Ager, 2011). Despite well-documented negative consequences, including posttraumatic stress disorder (PTSD) (Garcia-Moreno et al. 2006; Steel et al. 2009), evidence remains thin regarding intervention effectiveness to mitigate consequences in these settings. METHODS: This study used a two-armed parallel pilot randomized controlled trial to compare the impact of a group savings only (control) to gender dialogue groups added to group savings (treatment) on women's symptoms of PTSD in northwestern Côte d'Ivoire. Eligible Ivorian women (18+ years, no prior experience with group savings) were invited to participate and 1198 were randomized into treatment groups. RESULTS: In the ITT analyses, women in the treatment arm had significantly fewer PTSD symptoms relative to the control arm (ß: -0.12; 95% CI: -0.20 to -0.03; p = 0.005). Partnered women in the treatment arm who had not experienced intimate partner violence (IPV) at baseline had significantly fewer PTSD symptoms than the control arm (ß = -0.12; 95% CI: -0.21 to -0.03; p = 0.008), while those who had experienced IPV did not show significant differences between treatment and control arms (ß = -0.09; 95% CI: -0.29 to 0.11; p = 0.40). CONCLUSIONS: Adding a couples gender discussion group to a women's savings group significantly reduced women's PTSD symptoms overall. Different patterns emerge for women who experienced IPV at baseline v. those who did not. More research is needed on interventions to improve mental health symptoms for women with and without IPV experiences in settings affected by conflict.

7.
Artigo em Inglês | MEDLINE | ID: mdl-28596876

RESUMO

BACKGROUND: By 2009, two decades of war and widespread displacement left the majority of the population of Northern Uganda impoverished. METHODS: This study used a cluster-randomized design to test the hypothesis that a poverty alleviation program would improve economic security and reduce symptoms of depression in a sample of mostly young women. Roughly 120 villages in Northern Uganda were invited to participate. Community committees were asked to identify the most vulnerable women (and some men) to participate. The implementing agency screened all proposed participants, and a total of 1800 were enrolled. Following a baseline survey, villages were randomized to a treatment or wait-list control group. Participants in treatment villages received training, start-up capital, and follow-up support. Participants, implementers, and data collectors were not blinded to treatment status. RESULTS: Villages were randomized to the treatment group (60 villages with 896 participants) or the wait-list control group (60 villages with 904 participants) with an allocation ration of 1:1. All clusters participated in the intervention and were included in the analysis. The intent-to-treat analysis included 860 treatment participants and 866 control participants (4.1% attrition). Sixteen months after the program, monthly cash earnings doubled from UGX 22 523 to 51 124, non-household and non-farm businesses doubled, and cash savings roughly quadrupled. There was no measurable effect on a locally derived measure of symptoms of depression. CONCLUSIONS: Despite finding large increases in business, income, and savings among the treatment group, we do not find support for an indirect effect of poverty alleviation on symptoms of depression.

8.
Artigo em Inglês | MEDLINE | ID: mdl-28596887

RESUMO

BACKGROUND: Conflict-affected communities face poverty and mental health problems, with sexual violence survivors at high risk for both given their trauma history and potential for exclusion from economic opportunity. To address these problems, we conducted a randomized controlled trial of a group-based economic intervention, Village Savings and Loans Associations (VSLA), for female sexual violence survivors in the Democratic Republic of Congo. METHODS: In March 2011, 66 VSLA groups, with 301 study participants, were randomized to the VSLA program or a wait-control condition. Data were collected prior to randomization, at 2-months post-program in June 2012, and 8-months later for VSLA participants only. Outcome data included measures of economic and social functioning and mental health severity. VSLA program effect was derived by comparing intervention and control participants' mean changes from baseline to 2-month follow-up. RESULTS: At follow-up, VSLA study women reported significantly greater per capita food consumption and significantly greater reductions in stigma experiences compared with controls. No other study outcomes were statistically different. At 8-month follow-up, VSLA participants reported a continued increase in per capita food consumption, an increase in economic hours worked in the prior 7 days, and an increase in access to social resources. CONCLUSIONS: While female sexual violence survivors with elevated mental symptoms were successfully integrated into a community-based economic program, the immediate program impact was only seen for food consumption and experience of stigma. Impacts on mental health severity were not realized, suggesting that targeted mental health interventions may be needed to improve psychological well-being.

10.
Health Educ Res ; 29(6): 1015-27, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25274720

RESUMO

Engaging men is a critical component in efforts to reduce intimate partner violence (IPV). Little is known regarding men's perspectives of approaches that challenge inequitable gender norms, particularly in settings impacted by armed conflict. This article describes men's experiences with a women's empowerment program and highlights men's perceptions of gender norms, poverty and armed conflict, as they relate to achieving programmatic goals. Data are from 32 Ivorian men who participated in indepth interviews in 2012. Interviews were undertaken as part of an intervention that combined gender dialogue groups for both women and their male partners with women's only village savings and loans programs to reduce IPV against women. Findings suggested that in the context of armed conflict, traditional gender norms and economic stressors experienced by men challenged fulfillment of gender roles and threatened men's sense of masculinity. Men who participated in gender dialogue groups discussed their acceptance of programming and identified improvements in their relationships with their female partners. These men further discussed increased financial planning along with their partners, and attributed such increases to the intervention. Addressing men's perceptions of masculinity, poverty and armed conflict may be key components to reduce men's violence against women in conflict-affected settings.


Assuntos
Conflitos Armados , Violência Doméstica/prevenção & controle , Homens/psicologia , Pobreza , Poder Psicológico , Adulto , Côte d'Ivoire , Violência Doméstica/psicologia , Violência Doméstica/estatística & dados numéricos , Feminino , Humanos , Entrevistas como Assunto , Masculino , Parceiros Sexuais/psicologia
11.
Bone Joint J ; 96-B(9): 1234-8, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25183596

RESUMO

There is conflicting evidence about the functional outcome and rate of satisfaction of super-elderly patients (≥ 80 years of age) after carpal tunnel decompression. We compiled outcome data for 756 patients who underwent a carpal tunnel decompression over an eight-year study period, 97 of whom were super-elderly, and 659 patients who formed a younger control group (< 80 years old). There was no significant difference between the super-elderly patients and the younger control group in terms of functional outcome according to the mean (0 to 100) QuickDASH score (adjusted mean difference at one year 1.8; 95% confidence interval (CI) -3.4 to 7.0) and satisfaction rate (odds ratio (OR) 0.78; 95% CI 0.34 to 1.58). Super-elderly patients were, however, more likely to have thenar muscle atrophy at presentation (OR 9.2, 95% CI 5.8 to 14.6). When nerve conduction studies were obtained, super-elderly patients were more likely to have a severe conduction deficit (OR 12.4, 95% CI 3.0 to 51.3). Super-elderly patients report functional outcome and satisfaction rates equal to those of their younger counterparts. They are more likely to have thenar muscle atrophy and a severe nerve conduction deficit at presentation, and may therefore warrant earlier decompression.


Assuntos
Síndrome do Túnel Carpal/cirurgia , Descompressão Cirúrgica , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente , Recuperação de Função Fisiológica , Estudos Retrospectivos , Resultado do Tratamento
12.
BJOG ; 119(9): 1058-66, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22676807

RESUMO

OBJECTIVE: To document the lifetime prevalence of abuse from in-laws (both nonphysical maltreatment and physical violence), the forms of in-law abuse and reproductive control, and the relationship between experiences of in-law abuse and reproductive control among partnered women in rural Côte d'Ivoire. DESIGN: Cross-sectional study using baseline data (October 2010) from a randomised controlled trial examining socio-economic interventions on reduction of violence against Ivorian women. SETTING: Rural Côte d'Ivoire. POPULATION: A total of 981 Ivorian women aged 18 years and older who reported having a male partner and a current source of stable income. METHODS: Bivariate and multivariable logistic regression. MAIN OUTCOME MEASURES: Lifetime, in-law-perpetrated reproductive control. RESULTS: More than one in four (27.0%) women reported experiencing lifetime in-law abuse. In adjusted logistic regression analysis, in-law abuse was significantly associated with in-law-perpetrated reproductive control (adjusted odds ratio 6.9; 95% confidence interval 3.9-12.2; P < 0.0001). Religion and having fewer pregnancies were also associated with reporting in-law-perpetrated reproductive control. CONCLUSIONS: Increased efforts are needed to involve in-laws in programmes that seek to reduce gender-based violence against women and improve women's reproductive health.


Assuntos
Coerção , Anticoncepção/psicologia , Violência Doméstica/psicologia , Adulto , Côte d'Ivoire , Estudos Transversais , Escolaridade , Emprego , Serviços de Planejamento Familiar , Feminino , Humanos , Relação entre Gerações , Estado Civil , Pessoa de Meia-Idade , Paridade , Religião , Saúde Reprodutiva , Saúde da População Rural
14.
Am J Transplant ; 9(3): 473-82, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19260831

RESUMO

Certain components of a graft that provoke alloimmunity may not be vital for graft function or critical as targets of rejection. Corneal transplantation is an example of this, because graft epithelium plays a role in allosensitization, whereas corneal graft endothelium-which shares the same alloantigens-is the critical target in allorejection. In this study, we found that exploiting this biology by replacing donor epithelium of an allograft with an allodisparate third-party epithelium yields a marked enhancement in transplant survival. Such 'chimeric' allografts consisted of a C3H/He (H-2(k)) corneal epithelium over a C57BL/6 (H-2(b)) epithelial-denuded cornea (or v.v.) and orthotopically placed on BALB/c (H-2(d)) hosts. Conventional corneal allografts (C3H/He or C57BL/6) or isografts (BALB/c) were also transplanted on BALB/c hosts. Alloreactive T-cell frequencies (CD4(+) interferon [IFN]-gamma(+)) primed to the graft endothelium were strongly diminished in chimeric hosts relative to conventionally allografted hosts. This was corroborated by a decreased T-cell infiltration (p = 0.03) and a marked enhancement of allograft survival (p = 0.001). Our results represent the first successful demonstration of chimeric tissue, epithelial-denuded allograft plus third-party allodisparate epithelium, in the promotion of allograft survival. Moreover, chimeric grafting can be readily performed clinically, whereby corneal allograft rejection remains a significant problem particularly in inflamed graft beds.


Assuntos
Transplante de Córnea/imunologia , Sobrevivência de Enxerto/imunologia , Doadores de Tecidos , Quimeras de Transplante/imunologia , Animais , Proliferação de Células , Células Cultivadas , Endotélio/imunologia , Interferon gama/metabolismo , Masculino , Camundongos , Linfócitos T/citologia , Linfócitos T/imunologia , Linfócitos T/metabolismo , Transplante Homólogo/imunologia
15.
Allergol Immunopathol (Madr) ; 36(5): 291-302, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19080802

RESUMO

Continuing medical education (CME) is a critical tool as well as a generally accepted concern for physicians, while being both a commitment and an obligation for the Administration. In Spain, during the past decades, CME has been a constant concern of many groups; however, it was not until the end of the eighties when efforts at accreditation began to emerge. A significant step was the establishment of the Commission on Continuing Education of Health Professions of the National Health System, an agency of the Consejo Interterritorial (Inter-regional Council), whose accreditation system started in 1998, using the figure of Sector Conference, included in Articles 5 and 8 of the Ley de Régimen Jurídico de las Administraciones Públicas y del Procedimiento Administrativo Común (Law on Legal Regime of Public Administration and Common Administrative Procedures), as Senior Technical Body on the matter. Since then, various Regional Committees and the Spanish Accreditation System of Continuing Medical Education (SEAFORMEC) have been created. Although we earlier published a guide, in this manuscript we have updated the steps that must be taken to apply for accreditation of CME activity in Allergology, explaining the different items in the official application form, clarifying to whom the request should be addressed, and outlining the foundations on which the activities will be evaluated for accreditation purposes, in order to ensure that the training meets the highest standards for quality, so that the objectives that lead to achieving maximum performance and competence of health professionals may be reached.


Assuntos
Acreditação/normas , Alergia e Imunologia/educação , Educação Médica Continuada/normas , Ocupações em Saúde/normas , Acreditação/organização & administração , Alergia e Imunologia/normas , Protocolos Clínicos/normas , Educação Médica Continuada/organização & administração , Humanos , Sociedades Científicas/organização & administração , Sociedades Científicas/normas , Espanha
16.
Allergol Immunopathol (Madr) ; 36(2): 101-9, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18479662

RESUMO

The aim of this article is to provide an introduction to using databases from the Thomson ISI Web of Knowledge, with special reference to Citation Indexes as an analysis tool for publications, and also to explain the meaning of the well-known Impact Factor. We present the partially modified new Consultation Interface to enhance information search routines of these databases. It introduces distinctive methods in search bibliography, including the correct application of analysis tools, paying particular attention to Journal Citation Reports and Impact Factor. We finish this article with comment on the consequences of using the Impact Factor as a quality indicator for the assessment of journals and publications, and how to ensure measures for indexing in the Thomson ISI Databases.


Assuntos
Bibliografias como Assunto , Bases de Dados Factuais , Hipersensibilidade Imediata , Internet/estatística & dados numéricos , Medical Subject Headings/estatística & dados numéricos , Animais , Metodologias Computacionais , Humanos , National Library of Medicine (U.S.) , Estados Unidos
17.
Philos Trans A Math Phys Eng Sci ; 365(1857): 2077-88, 2007 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-17569646

RESUMO

In this paper, we review progress towards efficiently estimating parameters in climate models. Since the general problem is inherently intractable, a range of approximations and heuristic methods have been proposed. Simple Monte Carlo sampling methods, although easy to implement and very flexible, are rather inefficient, making implementation possible only in the very simplest models. More sophisticated methods based on random walks and gradient-descent methods can provide more efficient solutions, but it is often unclear how to extract probabilistic information from such methods and the computational costs are still generally too high for their application to state-of-the-art general circulation models (GCMs). The ensemble Kalman filter is an efficient Monte Carlo approximation which is optimal for linear problems, but we show here how its accuracy can degrade in nonlinear applications. Methods based on particle filtering may provide a solution to this problem but have yet to be studied in any detail in the realm of climate models. Statistical emulators show great promise for future research and their computational speed would eliminate much of the need for efficient sampling techniques. However, emulation of a full GCM has yet to be achieved and the construction of such represents a substantial computational task in itself.

18.
Eur J Ophthalmol ; 16(5): 741-4, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17061227

RESUMO

PURPOSE: To refine the phenotype of idiopathic macular hypoplasia, also referred to as ateliotic macula, by describing a series of cases with this diagnosis. METHODS: A review of the clinical characteristics of four patients as documented in medical records with regard to refractive error, visual acuity, anterior segment examination, retinal findings, and ancillary tests such as electroretinography (ERG). RESULTS: All patients had oval circumscribed or diffuse areas in the posterior pole where the retina appeared not to have developed normally; the fovea was involved in three patients with reduced visual acuity, and one patient had parafoveal lesions with preserved visual acuity. There were three males and one females. Patients' age ranged from 4 to 16 years. Errors of refraction ranged from severe myopia to hypermetropia and mild astigmatism. The anterior segment was normal in all patients. Three patients had strabismus and two had nystagmus. ERG was normal in the one patient in whom it was performed. One patient was mosaic for trisomy of chromosome 9. CONCLUSIONS: The term idiopathic macular hypoplasia can be applied to a spectrum of abnormalities in which a localized area of the posterior pole has a primordial or underdeveloped appearance. Lesions involving the fovea result in poor acuity. Generalized retinal dysfunction is absent. At least one of the genes involved in macular development may be located on chromosome 9.


Assuntos
Anormalidades do Olho , Macula Lutea/anormalidades , Doenças Retinianas/diagnóstico , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Eletrorretinografia , Feminino , Humanos , Masculino , Refração Ocular , Erros de Refração/complicações , Erros de Refração/diagnóstico , Doenças Retinianas/complicações , Doenças Retinianas/fisiopatologia , Acuidade Visual
20.
Hum Mol Genet ; 9(9): 1415-23, 2000 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-10814723

RESUMO

A balanced (1;11)(q42.1;q14.3) translocation segregates with schizophrenia and related psychiatric disorders in a large Scottish family (maximum LOD = 6.0). We hypothesize that the translocation is the causative event and that it directly disrupts gene function. We previously reported a dearth of genes in the breakpoint region of chromosome 11 and it is therefore unlikely that the expression of any genes on this chromosome has been affected by the translocation. By contrast, the corresponding region on chromosome 1 is gene dense and, not one, but two novel genes are directly disrupted by the translocation. These genes have been provisionally named Disrupted-In-Schizophrenia 1 and 2 ( DISC1 and DISC2 ). DISC1 encodes a large protein with no significant sequence homology to other known proteins. It is predicted to consist of a globular N-terminal domain(s) and helical C-terminal domain which has the potential to form a coiled-coil by interaction with another, as yet, unidentified protein(s). Similar structures are thought to be present in a variety of unrelated proteins that are known to function in the nervous system. The putative structure of the protein encoded by DISC1 is therefore compatible with a role in the nervous system. DISC2 apparently specifies a non-coding RNA molecule that is antisense to DISC1, an arrangement that has been observed at other loci where it is thought that the antisense RNA is involved in regulating expression of the sense gene. Altogether, these observations indicate that DISC1 and DISC2 should be considered formal candidate genes for susceptibility to psychiatric illness.


Assuntos
Cromossomos Humanos Par 11 , Cromossomos Humanos Par 1 , Proteínas do Tecido Nervoso/genética , RNA Antissenso/genética , Esquizofrenia/genética , Translocação Genética , Regiões 3' não Traduzidas , Sequência de Aminoácidos , Sequência de Bases , Southern Blotting , Encéfalo/embriologia , Encéfalo/metabolismo , Linhagem Celular , Clonagem Molecular , DNA Complementar/metabolismo , Saúde da Família , Biblioteca Gênica , Humanos , Escore Lod , Modelos Genéticos , Dados de Sequência Molecular , Proteínas do Tecido Nervoso/biossíntese , Fases de Leitura Aberta , RNA Antissenso/biossíntese , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de Tempo , Distribuição Tecidual
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