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BACKGROUND: Understanding the specific neurobehavioural profile of rare genetic diseases enables clinicians to provide the best possible care for patients and families, including prognostic and treatment advisement. Previous studies suggested that a subset of individuals with Kabuki syndrome (KS), a genetic disorder causing intellectual disability and other neurodevelopmental phenotypes, have attentional deficits. However, these studies looked at relatively small numbers of molecularly confirmed cases and often used retrospective clinical data instead of standardised assessments. METHODS: Fifty-five individuals or caregivers of individuals with molecularly confirmed KS completed assessments to investigate behaviour and adaptive function. Additionally, information was collected on 23 unaffected biological siblings as controls. RESULTS: Attention Problems in children was the only behavioural category that, when averaged, was clinically significant, with the individual scores of nearly 50% of the children with KS falling in the problematic range. Children with KS scored significantly higher than their unaffected sibling on nearly all behavioural categories. A significant correlation was found between Attention Problems scores and adaptive function scores (P = 0.032), which was not explained by lower general cognitive ability. CONCLUSIONS: We found that the rates of children with attentional deficits are much more elevated than would be expected in the general population, and that attention challenges are negatively correlated with adaptive function. When averaged across KS participants, none of the behavioural categories were in the clinically significant range except Attention Problems for children, which underscores the importance of clinicians screening for attention deficit hyperactivity disorder (ADHD) in children with KS.
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Anormalidades Múltiplas , Face/anormalidades , Doenças Hematológicas , Deficiência Intelectual , Doenças Vestibulares , Criança , Humanos , Estudos Retrospectivos , Doenças Hematológicas/complicações , Doenças Hematológicas/genéticaRESUMO
INTRODUCTION: Current research is elucidating how the addition of depth of invasion (DOI) to the 8th edition of the American Joint Committee on Cancer (AJCC) TNM staging for oral cavity squamous cell carcinoma influences its prognostic accuracy. However, there is limited research on survival in pT3N0M0 oral tongue SCC (OTSCC) patients when stratifying by DOI. OBJECTIVES: Determine 5-year overall survival (OS), and cancer-specific survival (CSS) for patients with pT3N0M0 oral OTSCC based on shallow DOI (<10 mm) and deep DOI (10-20 mm). METHODS: Retrospective review involving three tertiary care cancer centers in North America. cT3N0M0 OTSCC patients receiving primary surgical treatment from 2004 to 2018 were identified. Inclusion: age > 18 years old and confirmation of pT3N0M0 OTSCC on surgical pathology. Exclusion: patients undergoing palliative treatment or previous head and neck surgery/radiotherapy. Analysis comprised two groups: shallow pT3 (tumor diameter > 4 cm, DOI < 10 mm) and deep pT3 (DOI 10 mm-20 mm). RESULTS: One hundred and four patients with pT3N0M0 OTSCC were included. Mean age was 59.1 years (range: 18-80.74). Age, gender, and Charlson Comorbidity Index were similar between the two groups (p > 0.05). Recurrence, LVI, PNI, and positive margins were more common in deep T3 tumors (P < 0.05). 5-year OS (50% vs 26%, p = 0.006) and CSS (72% vs 24%, p = 0.005) were worse in deep pT3 tumors. Deep pT3 disease was an independent predictor of OS (p = 0.004) and CSS (p = 0.01) on Cox-Regression analysis. CONCLUSION: DOI is an independent predictor of poor survival in pT3N0M0 OTSCC patients. Consideration should be given to escalating adjuvant therapy for deep pT3N0M0 OTSCC patients.
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Carcinoma de Células Escamosas de Cabeça e Pescoço , Neoplasias da Língua , Adulto , Humanos , Pessoa de Meia-Idade , Invasividade Neoplásica , Estudos Retrospectivos , Taxa de Sobrevida , Neoplasias da Língua/cirurgiaRESUMO
BACKGROUND: Public health surveillance for previous Olympic and Paralympic Games have been described in the literature, but surveillance for regional, multisport events on a smaller scale have rarely been explored. OBJECTIVE: To describe the public health surveillance planning, implementation, results, and lessons learned from the 2015 Pan/Parapan American Games in Toronto, Ontario, Canada. INTERVENTION: Public health surveillance planning for the Games began two years in advance and involved local, provincial and federal partners, primarily focusing on infectious disease. From June to August, 2015, enhanced public health surveillance was conducted to support situational awareness and to facilitate the detection of infectious diseases and outbreaks, environmental health hazards and impacts and other major health events. OUTCOMES: No major public health incidents occurred that were associated with or a result of hosting the Games. There were two cases of reportable infectious diseases associated with the Games, and 18 public health investigations involving Games-accredited individuals (six related to vaccine-preventable diseases and 12 related to gastrointestinal illnesses or food/water safety violations). Enhanced communication mechanisms, rather than routine and syndromic surveillance systems, were the primary sources of initial notification to surveillance partners on investigations. CONCLUSION: Working with its partners, Ontario created a robust public health surveillance system for the 2015 Pan/Parapan American Games. Lessons learned, as well as the relationships and capacity developed through this experience, will be applied towards public health surveillance planning for future events.
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Córion/diagnóstico por imagem , Aconselhamento Genético/métodos , Testes Genéticos , Gêmeos Monozigóticos , Zigoto/diagnóstico por imagem , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Pais , Acesso dos Pacientes aos Registros , Fenótipo , Valor Preditivo dos Testes , Gravidez , Relações entre Irmãos , UltrassonografiaRESUMO
The 2013 multistate outbreaks contributed to the largest annual number of reported US cases of cyclosporiasis since 1997. In this paper we focus on investigations in Texas. We defined an outbreak-associated case as laboratory-confirmed cyclosporiasis in a person with illness onset between 1 June and 31 August 2013, with no history of international travel in the previous 14 days. Epidemiological, environmental, and traceback investigations were conducted. Of the 631 cases reported in the multistate outbreaks, Texas reported the greatest number of cases, 270 (43%). More than 70 clusters were identified in Texas, four of which were further investigated. One restaurant-associated cluster of 25 case-patients was selected for a case-control study. Consumption of cilantro was most strongly associated with illness on meal date-matched analysis (matched odds ratio 19·8, 95% confidence interval 4·0-∞). All case-patients in the other three clusters investigated also ate cilantro. Traceback investigations converged on three suppliers in Puebla, Mexico. Cilantro was the vehicle of infection in the four clusters investigated; the temporal association of these clusters with the large overall increase in cyclosporiasis cases in Texas suggests cilantro was the vehicle of infection for many other cases. However, the paucity of epidemiological and traceback information does not allow for a conclusive determination; moreover, molecular epidemiological tools for cyclosporiasis that could provide more definitive linkage between case clusters are needed.
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Coriandrum/parasitologia , Cyclospora/isolamento & purificação , Ciclosporíase/epidemiologia , Surtos de Doenças , Doenças Transmitidas por Alimentos/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Criança , Pré-Escolar , Análise por Conglomerados , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Texas/epidemiologia , Adulto JovemRESUMO
BACKGROUND: The treatment of head-and-neck cancer is complex and requires the involvement of various health care professionals with a wide range of expertise. We describe the process of developing a practice guideline with recommendations about the organization and delivery of health care services for head-and-neck cancer patients in Alberta. METHODS: Outcomes of interest included composition of the health care team, qualification requirements for team members, cancer centre and team member volumes, infrastructure needs, and wait times. A search for existing practice guidelines and a systematic review of the literature addressing the organization and delivery of health care services for head-and-neck cancer patients were conducted. The search included the Standards and Guidelines Evidence (sage) directory of cancer guidelines and PubMed. RESULTS: One practice guideline was identified for adaptation. Three additional practice guidelines provided supplementary evidence to inform guideline recommendations. Members of the Alberta Provincial Head and Neck Tumour Team (consisting of various health professionals from across the province) provided expert feedback on the adapted recommendations through an online and in-person review process. Selected experts in head-and-neck cancer from outside the province participated in an external online review. SUMMARY: The recommendations outlined in this practice guideline are based on existing guidelines that have been modified to fit the Alberta context. Although specific to Alberta, the recommendations lend credence to similar published guidelines and could be considered for use by groups lacking the resources of appointed guideline panels. The recommendations are meant to be a guide rather than a fixed protocol. The implementation of this practice guideline will depend on many factors, including but not limited to availability of trained personnel, adequate funding of infrastructure, and collaboration with other associations of health care professionals in the province.
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OBJECTIVE: To examine the negative statistical relationship between educational level and risk of anxiety disorders, and to estimate to what extent this relationship may be explained by genes or environmental factors influencing both phenotypes. METHOD: Registry data on educational level for 3339 young adult Norwegian twin pairs and diagnostic data on anxiety disorders for 1385 of these pairs were analysed, specifying structural equations models using MX software. RESULTS: In the best-fitting model, genes accounted for 59% of the variance in education. 18% of the variance was due to environmental factors shared by co-twins, and the remaining 23% due to non-shared environment; 46% of the variance in liability to anxiety disorders was genetic, the remaining variance was due to non-shared environment. A phenotypic polychoric correlation of -0.30 between educational level and 'any anxiety disorder' was estimated to be primarily (83% in the best-fitting model) caused by genes common to the two traits. CONCLUSION: The relationship between low education and risk of anxiety disorders appears to be primarily determined by genetic effect common to educational level and anxiety disorders.
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Transtornos de Ansiedade/genética , Meio Ambiente , Interação Gene-Ambiente , Meio Social , Adulto , Escolaridade , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Fenótipo , Fatores de Risco , Gêmeos Dizigóticos/genética , Gêmeos Dizigóticos/psicologia , Gêmeos Monozigóticos/genética , Gêmeos Monozigóticos/psicologiaRESUMO
BACKGROUND: Cryptococcus gattii (Cg) has caused increasing infections in the US Pacific Northwest (PNW) since 2004. We describe this outbreak and compare clinical aspects of infection in the United States among patients infected with different Cg genotypes. METHODS: Beginning in 2005, PNW state health departments conducted retrospective and prospective passive surveillance for Cg infections, including patient interviews and chart reviews; clinical isolates were genotyped at the US Centers for Disease Control and Prevention (CDC). We examined symptom frequency and underlying conditions in US patients with Cg infection and modeled factors associated with death. RESULTS: From 1 December 2004 to July 2011, 96 Cg infections were reported to the CDC. Eighty-three were in patients in or travelers to the PNW, 78 of which were genotypes VGIIa, VGIIb, or VGIIc (outbreak strains). Eighteen patients in and outside the PNW had other molecular type Cg infections (nonoutbreak strains). Patients with outbreak strain infections were more likely than those with nonoutbreak-strain infections to have preexisting conditions (86% vs 31%, respectively; P < .0001) and respiratory symptoms (75% vs 36%, respectively; P = .03) and less likely to have central nervous system (CNS) symptoms (37% vs 90%, respectively; P = .008). Preexisting conditions were associated with increased pneumonia risk and decreased risk of meningitis and CNS symptoms. Nineteen (33%) of 57 patients died. Past-year oral steroid use increased odds of death in multivariate analysis (P = .05). CONCLUSIONS: Clinical differences may exist between outbreak-strain (VGIIa, VGIIb, and VGIIc) and nonoutbreak-strain Cg infections in the United States. Clinicians should have a low threshold for testing for Cg, particularly among patients with recent travel to the PNW.
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Doenças Transmissíveis Emergentes/epidemiologia , Doenças Transmissíveis Emergentes/patologia , Criptococose/epidemiologia , Criptococose/patologia , Cryptococcus gattii/isolamento & purificação , Surtos de Doenças , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Doenças Transmissíveis Emergentes/microbiologia , Criptococose/microbiologia , Cryptococcus gattii/classificação , Cryptococcus gattii/genética , Cryptococcus gattii/patogenicidade , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Tipagem Molecular , Técnicas de Tipagem Micológica , Noroeste dos Estados Unidos/epidemiologia , Fatores de Risco , Adulto JovemRESUMO
The objective was to determine the extent of informed decision making for prostate cancer screening in a defined population. A state-wide population based survey of men aged 50 and above (Behavioral Risk Factor Surveillance System, 2004, Washington state) and a simple random sample of primary care physicians, were conducted in the same geographic area. We examined prostate cancer screening rates among the men (defined as either PSA or digital rectal examination within the past year) and prostate cancer screening practices among the physicians. Screening rates were 56% at ages 50-64, 68% at ages 65-79 and 64% among men age 80 and older. Adjusted analyses indicated that age, income, marital status, possessing health insurance and a personal health care provider, and talking with a provider about prostate cancer screening tests were all positively associated with screening status. In the physician survey, most physicians recommend screening to their average-risk male patients. Three-fourths (74%) of physicians discussed benefits and risks of PSA testing with their patients; but few used educational tools. Only 35% discussed the side effects of prostate cancer treatment with their patients. The rates of screening reported by men were relatively high, given that current recommendations promote informed decision making rather than universal screening. The majority of physicians recommend prostate cancer screening to their patients, with few decision-making tools used. All relevant information may not be provided in the discussion. These results point to the need for increasing informed decision making about prostate cancer screening.
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Tomada de Decisões , Detecção Precoce de Câncer/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Educação de Pacientes como Assunto , Padrões de Prática Médica/estatística & dados numéricos , Neoplasias da Próstata/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Atitude do Pessoal de Saúde , Detecção Precoce de Câncer/métodos , Medicina Geral/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores Socioeconômicos , WashingtonRESUMO
OBJECTIVES: Treatment recommendations based on thoracic aortic aneurysm (TAA) diameter (D) ignore differences in proportional dilatation between patients of different body habitus and sex. This study's goal is to compare TAA diameters between sexes as a function of relative aortic size as determined by aortic size index (ASI). METHODS: This is a retrospective review of all TAA's treated between 2003 and 2008. ASI was calculated for each patient, which considers aneurysm diameter, patient's height and weight. Values for males and females were plotted separately (TAA diameter vs ASI) and the resulting linear regression equations permitted comparison of proportional dilatation between sexes. RESULTS: In 40 patients (25 males, 15 females) mean TAA diameter did not differ between sexes (6.56 +/- 0.99 vs 7.03 +/- 1.14, P = 0.18), while ASI was larger in females than males (4.21 +/- 0.85 vs 3.24 +/- 0.63, P = 0.0003). Values for ruptured and intact aneurysms did not differ. Linear regression analysis permitted comparison of TAA diameter with ASI between sexes resulting in the following equation: D(Female) = 0.91D(Male) - 0.49. This correlates a 6 cm TAA in a male with a 4.97 cm TAA in a female. CONCLUSIONS: TAA of equal diameter represent a larger proportional dilatation in females compared to males. This could influence repair thresholds that are historically diameter based.
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Aneurisma da Aorta Torácica/patologia , Ruptura Aórtica/patologia , Aneurisma da Aorta Torácica/terapia , Ruptura Aórtica/terapia , Estatura , Peso Corporal , Dilatação Patológica , Feminino , Humanos , Modelos Lineares , Masculino , Estudos Retrospectivos , Fatores SexuaisRESUMO
Agriculture remains one of the most hazardous occupations in the U.S. By conservative estimates, tractor overturns alone claim 120 lives annually. A rollover protective structure (ROPS) and a seatbelt are a highly effective engineering safety control that can prevent many of these fatalities and reduce the severity of injuries associated with tractor overturn. SAE J2194 is a consensus performance standard established for agricultural ROPS. According to this standard, satisfactory ROPS performance can be demonstrated through static testing, field upset testing, or impact testing. A previous modeling study suggested that static testing may underpredict the strain induced in a ROPS during afield upset. In the current study, field upset testing and laboratory static testing results were compared. Field upset testing included six rear and six side upset tests performed according to SAE J2194 guidelines. Additionally, static testing was performed on a ROPS of the same model. The results support findings from the modeling study. Near the lowest sections of the ROPS, the plastic strain resulting from rear upset testing exceeded the plastic strain from static testing for 18 of 24 data points. Conversely, the ROPS plastic strain from side upset testing was typically less than plastic strain from laboratory static testing. However, data indicate that the side upset test may not be very repeatable. This study suggests that the longitudinal loading energy criterion for static testing might not be a conservative predictor of rear upset ROPS response.
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Agricultura/instrumentação , Desenho de Equipamento/normas , Segurança de Equipamentos , Veículos Automotores/normas , Equipamentos de Proteção/normas , Segurança/normas , Acidentes de Trabalho/prevenção & controle , Desenho de Equipamento/métodos , Humanos , Modelos Teóricos , Cintos de Segurança , Ferimentos e Lesões/prevenção & controleRESUMO
OBJECTIVE: To identify common loci and potential genetic variants affecting body mass index (BMI, kg m(-2)) in study populations originating from Europe. DESIGN: We combined genome-wide linkage scans of six cohorts from Australia, Denmark, Finland, the Netherlands, Sweden and the United Kingdom with an approximately 10-cM microsatellite marker map. Variance components linkage analysis was carried out with age, sex and country of origin as covariates. SUBJECTS: The GenomEUtwin consortium consists of twin cohorts from eight countries (Australia, Denmark, the Netherlands, Finland, Italy, Norway, Sweden and the United Kingdom) with a total data collection of more than 500,000 monozygotic and dizygotic (DZ) twin pairs. Variance due to early-life events and the environment is reduced within twin pairs, which makes DZ pairs highly valuable for linkage studies of complex traits. This study totaled 4401 European-originated twin families (10,535 individuals) from six countries (Australia, Denmark, the Netherlands, Finland, Sweden and the United Kingdom). RESULTS: We found suggestive evidence for a quantitative trait locus on 3q29 and 7q36 in the combined sample of DZ twins (multipoint logarithm of odds score (MLOD) 2.6 and 2.4, respectively). Two individual cohorts showed strong evidence independently for three additional loci: 16q23 (MLOD=3.7) and 2p24 (MLOD=3.4) in the Dutch cohort and 20q13 (MLOD=3.2) in the Finnish cohort. CONCLUSION: Linkage analysis of the combined data in this large twin cohort study provided evidence for suggestive linkage to BMI. In addition, two cohorts independently provided significant evidence of linkage to three new loci. The results of our study suggest a smaller environmental variance between DZ twins than full siblings, with a corresponding increase in heritability for BMI as well as an increase in linkage signal in well-replicated regions. The results are consistent with the possibility of locus heterogeneity for some genomic regions, and indicate a lack of major common quantitative trait locus variants affecting BMI in European populations.
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Índice de Massa Corporal , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 7/genética , Ligação Genética/genética , Locos de Características Quantitativas/genética , Gêmeos Dizigóticos/genética , Adulto , Idoso , Estudos de Coortes , Europa (Continente) , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Gêmeos/genética , População Branca/genéticaRESUMO
BACKGROUND AND PURPOSE: Growing evidence of the relationship between poor antiplatelet response and occurrence of clinical events elicited the need of monitoring the response which has not been part of our daily practice. We present our initial experience with a new point-of-care antiplatelet-function test (VerifyNow assay) in neurointerventional procedures. MATERIALS AND METHODS: Among the 106 consecutive patients from July 2006 to April 2007, ninety-eight met the inclusion criteria. Our preferred antiplatelet regimen was aspirin (325 mg daily) and clopidogrel (300 mg of loading dose followed by 75 mg daily) starting 5-10 days before the procedure. The test results were reported as aspirin-reaction unit (ARU) for aspirin and P2Y(12) reaction units (PRU), baseline (BASE), and percentage inhibition for the P2Y(12) assay and were summarized as mean +/- SD of the values. We analyzed the effects of several factors of poor clopidogrel response (<40% inhibition). The occurrence of thrombotic events was recorded. RESULTS: The mean ARU of aspirin assays was 438.3 +/- 47.9 (range, 350-632), and the response was poor in 2 patients (2.1%). For clopidogrel, the mean of the BASE, PRU, and percentage inhibition was 356.8 +/- 56.3 (range, 234-495), 198.9 +/- 104.4 (range, 8-401), and 45.2 +/- 27.1% (range, 0-98), respectively. Forty-two patients (42.9%) showed poor response. Multivariate analysis showed greater body weight (81.9 Kg +/- 19.1 kg versus 69.9 +/- 15 kg) in the poor-response group. All 3 cases of intraprocedural thrombosis (3.1%) were observed only in the poor-response group. CONCLUSION: We observed a high frequency of poor clopidogrel responses in the neurointerventional setting. Routine monitoring of the drug response would be helpful for the early identification of poor antiplatelet responders so that we may modify the regimen and/or treatment plan.
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Angioplastia com Balão , Aspirina/administração & dosagem , Transtornos Cerebrovasculares/terapia , Embolização Terapêutica , Inibidores da Agregação Plaquetária/administração & dosagem , Testes de Função Plaquetária/instrumentação , Sistemas Automatizados de Assistência Junto ao Leito , Stents , Ticlopidina/análogos & derivados , Adulto , Idoso , Aspirina/efeitos adversos , Transtornos Cerebrovasculares/sangue , Clopidogrel , Esquema de Medicação , Quimioterapia Combinada , Feminino , Humanos , Embolia Intracraniana/sangue , Embolia Intracraniana/prevenção & controle , Trombose Intracraniana/sangue , Trombose Intracraniana/prevenção & controle , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Agregação Plaquetária/efeitos dos fármacos , Inibidores da Agregação Plaquetária/efeitos adversos , Valor Preditivo dos Testes , Estudos Prospectivos , Ticlopidina/administração & dosagem , Ticlopidina/efeitos adversosRESUMO
OBJECTIVE: To estimate the influence of genetic effects in the aetiology and pathogenesis of ankylosing spondylitis (AS). METHODS: The study comprised one Norwegian and two Danish nationwide twin surveys. In 1994 and 2002, respectively, 37,388 and 46,331 Danish twin individuals were asked by questionnaire if they had AS. Similarly, in 1998, 12,718 Norwegian twins were asked if they had AS using a questionnaire phrased according to the Danish survey. Twins reporting AS were categorized according to the modified New York criteria. RESULTS: A total of 113 twin individuals reported AS, of whom 81 (72.3%) participated in validation of the diagnosis. After validation, 39 probands were diagnosed with AS. Subsequent invitation of co-twins resulted in 27 complete pairs. The point prevalence and the annual incidence of AS was 0.1% and 3/100,000 person-years (pyr) among the Danish twins. The positive predictive value of self-reported AS was 49.3%. Probandwise concordance rates on AS were (2/5) 40% in monozygotic (MZ) and (1/23) 4% in dizygotic (DZ) twins [difference 35% (95% CI 2.9-72.8), p = 0.26]. Heredity analysis including previously published and the present HLA-B27-positive twin pairs indicated that additive genetic effects account for 94% (95% CI 0.56-0.99) of the variance in the causation of AS. CONCLUSION: Self-reported AS needs careful validation. The occurrence of AS in a Danish twin population was 0.1% and accords well with previous studies on singletons in hospital settings. The present study adds to previous evidence of a major genetic effect in the pathogenesis of AS.
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Espondilite Anquilosante/epidemiologia , Espondilite Anquilosante/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto , Idoso , Dinamarca/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Noruega/epidemiologia , Prevalência , Sistema de Registros , Reprodutibilidade dos Testes , Espondilite Anquilosante/diagnósticoRESUMO
Density modulation of charged particle beams may occur as a consequence of deliberate action, or may occur inadvertently because of imperfections in the particle source or acceleration method. In the case of intense beams, where space charge and external focusing govern the beam dynamics, density modulation may, under some circumstances, be converted to velocity modulation, with a corresponding conversion of potential energy to kinetic energy. Whether this will occur depends on the properties of the beam and the initial modulation. This paper describes the evolution of discrete and continuous density modulations on intense beams and discusses three recent experiments related to the dynamics of density-modulated electron beams.
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BACKGROUND: Psoriasis is a chronic T-cell-mediated immunological skin disease with a complex pathogenesis where both genetic and environmental factors are involved. OBJECTIVE: To study the conditional and relative risk of developing psoriasis in identical and fraternal twins whose co-twin has a positive history of the disease and to estimate the relative contribution of genetic and environmental factors on the liability for psoriasis in Norway. METHODS: Self-reported history of psoriasis in twins from the population-based Norwegian Twin Panel (N = 8045) was studied. Absolute and relative risks of developing psoriasis conditioned on the positive history of psoriasis in a co-twin were calculated by Kaplan-Meier survival analysis and Cox regression, respectively. Structural equation modelling was used to estimate genetic and environmental variance components. RESULTS: Altogether, 334 (4.2%) of the twins reported having psoriasis. No difference in prevalence of the disease across sexes and zygosity groups was found. Identical twins were more likely to develop psoriasis than fraternal twins if a co-twin reported having the disease. The best-fitting model showed that additive genetic effects could explain 66% of the variation in liability for psoriasis in this population, and the remaining 34% was due to non-shared environmental influences. CONCLUSIONS: High heritability due to additive genetic effects together with considerable environmental contribution to the liability of psoriasis support the current opinion on the multifactorial aetiology of the disease. No sex-specific patterns of heritability of psoriasis were found.
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Doenças em Gêmeos , Predisposição Genética para Doença , Psoríase/epidemiologia , Psoríase/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Noruega/epidemiologia , Prevalência , Modelos de Riscos Proporcionais , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
Elevated levels of exhaled nitric oxide (eNO) and airway hyperresponsiveness are intermediate phenotypes of asthma. Using population-based data collected from a sample of twins, the present authors estimated the relative contribution of genes, family environment and nonshared environmental influences to variations in eNO and airway responsiveness (AR). In addition, the genetic and environmental sources of covariation between these two asthma-related phenotypes were investigated. The study population comprised a random sample of 377 adult twins identified through the Norwegian Twin Registry. The main outcome variables were eNO and AR to methacholine. Genetic effects accounted for 60% of the variation in eNO. Family environment accounted for 30% of the variation in AR, while nonshared environmental influences explained the remaining variation for both measures. For both eNO and AR, there were significant regression effects for atopy and smoking. The small, but significant association between eNO and AR was primarily explained by genetic factors. Sub-analyses restricted to atopic and nonsmoking twins strengthened the observation. In conclusion, variations in exhaled nitric oxide and airway responsiveness appear to be explained by different genetic and environmental variance structures. Variation in exhaled nitric oxide is explained by genetic and nonshared environmental effects, whereas an environmental model best explains the variation in airway responsiveness. Common genetic effects explain the small but significant association between exhaled nitric oxide and airway responsiveness.
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Hiper-Reatividade Brônquica/genética , Meio Ambiente , Expiração , Hipersensibilidade Imediata , Óxido Nítrico/análise , Adulto , Brônquios/efeitos dos fármacos , Brônquios/fisiopatologia , Broncoconstritores/farmacologia , Feminino , Humanos , Masculino , Cloreto de Metacolina/farmacologia , População Branca/genéticaRESUMO
Where men have had access to successful treatment for HIV (highly active antiretroviral therapy), expectations of both patients and physicians alike have changed significantly over the past decade. Such men, living with HIV, expect to lead fully functional lives including a normal sex life. Sexual dysfunction is well described among men with HIV. We retrospectively analysed details of 190 consecutive men attending a dedicated sexual dysfunction service in our HIV unit over an 18-month period. We took note of the specifics of their HIV disease, illnesses other than HIV, as well as other risk factors associated with sexual dysfunction. Men with sexual dysfunction all commonly reported recreational drug use, hepatitis B and C co-infection, anxiety and depressive illnesses, peripheral neuropathy and lipodystrophy. There was a significant relationship between men complaining of retarded ejaculation and peripheral neuropathy. Sexual dysfunction in non-HIV settings is known to lead to poor adherence to prescribed medications, e.g. antihypertensive agents. Iatrogenic sexual dysfunction in patients may similarly have a potential to lead to poor antiretroviral compliance if not addressed.