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1.
Heliyon ; 10(7): e28611, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38586381

RESUMO

Purpose: To determine whether self-reported race/ethnicity is associated with intraocular pressure (IOP) and glaucoma and to explore whether any associations are due to social, behavioral, genetic, or health differences. Design: Cross-sectional analysis of population-based data. Methods: We used the Canadian Longitudinal Study on Aging Comprehensive Cohort, which consists of 30,097 adults aged 45-85 years. Race/ethnicity was self-reported. Corneal-compensated intraocular pressure (IOP) was measured in mmHg using the Reichert Ocular Response Analyzer. Participants were asked to report if they have ever had a diagnosis of glaucoma and whether they used eye care in the past year. A glaucoma polygenic risk score (PRS) was calculated. Logistic and linear regression models were used. Results: Black individuals had higher mean IOP levels (beta coefficient (ß) = 1.46; 95% confidence interval [CI], 0.62, 2.30) while Chinese, Japanese and Korean (ß = -1.00; 95% CI, -1.63, -0.38) and Southeast Asian and Filipino individuals (ß = -1.56; 95% CI, -2.68, -0.43) had lower mean IOP levels as compared to White individuals after adjustment for sociodemographic, behavioral, genetic, and health-related variables. Black people were more likely to report glaucoma as compared to White people after adjustment (odds ratio [OR] = 2.43; 95% CI, 1.27, 4.64). Conclusion: Racial and ethnic differences in IOP and glaucoma were identified. Adjusting for sociodemographic, behavioral, genetic, and health-related variables did not fully explain these differences. Longitudinal research is needed to further explore the reasons for these differences and to understand their relevance to disease pathogenesis and progression.

2.
Pediatr Radiol ; 2024 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-38462578

RESUMO

Germ cell tumors of childhood are tumors arising from germline cells in gonadal or extragonadal locations. Extragonadal germ cell tumors are characteristically located in the midline, arising intracranially or in the mediastinum, retroperitoneum, or pelvis. These tumors are generally easily diagnosed due to typical sites of origin, characteristic imaging findings, and laboratory markers. However, germ cell tumors can be associated with unusual clinical syndromes or imaging features that can perplex the radiologist. This review will illustrate atypical imaging/clinical manifestations and complications of abdominal germ cell tumors in childhood. These features include unusual primary tumors such as multifocal primaries; local complications such as ovarian torsion or ruptured dermoid; atypical presentations of metastatic disease associated with burned-out primary tumor, growing teratoma syndrome, and gliomatosis peritonei; endocrine manifestations such as precocious puberty and hyperthyroidism; and antibody mediated paraneoplastic syndrome such as anti-N-methyl-D-aspartate-receptor antibody-mediated encephalitis. This review aims to illustrate unusual imaging features associated with the primary tumor, metastatic disease, or distant complications of abdominal germ cell tumors of childhood.

3.
Invest Ophthalmol Vis Sci ; 64(10): 3, 2023 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-37405759

RESUMO

Purpose: The purpose of this study was to examine the association of alcohol consumption with intraocular pressure (IOP) and glaucoma and to assess whether any associations are modified by a glaucoma polygenic risk score (PRS). Methods: Cross-sectional analysis of data from the Canadian Longitudinal Study on Aging Comprehensive Cohort, consisting of 30,097 adults ages 45 to 85 years, was done. Data were collected from 2012 to 2015. Alcohol consumption frequency (never, occasional, weekly, and daily) and type (red wine, white wine, beer, liquor, and other) were measured by an interviewer-administered questionnaire. Total alcohol intake (grams/week) was estimated. IOP was measured in mm Hg using the Reichert Ocular Response Analyzer. Participants reported a diagnosis of glaucoma from a doctor. Logistic and linear regression models were used to adjust for demographic, behavioral, and health variables. Results: Daily drinkers had higher IOP compared to those who never drank (ß = 0.45, 95% confidence interval (CI) = 0.05, 0.86). An increase in total weekly alcohol intake (per 5 drinks) was also associated with higher IOP (ß = 0.20, 95% CI = 0.15, 0.26). The association between total alcohol intake and IOP was stronger in those with a higher genetic risk of glaucoma (P for interaction term = 0.041). There were 1525 people who reported being diagnosed with glaucoma. Alcohol consumption frequency and total alcohol intake were not associated with glaucoma. Conclusions: Alcohol frequency and total alcohol intake were associated with elevated IOP but not with glaucoma. The PRS modified the association between total alcohol intake and IOP. Findings should be confirmed in longitudinal analyses.


Assuntos
Glaucoma , Pressão Intraocular , Humanos , Envelhecimento/fisiologia , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/epidemiologia , Canadá/epidemiologia , Estudos Transversais , Glaucoma/etiologia , Glaucoma/genética , Estudos Longitudinais , Fatores de Risco , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais
4.
BMC Public Health ; 23(1): 1436, 2023 07 27.
Artigo em Inglês | MEDLINE | ID: mdl-37501119

RESUMO

BACKGROUND: Consumption of fast food, which is associated with poor diet, weight gain and the development of noncommunicable diseases, is high amongst youth. Fast food marketing, a modifiable determinant of excess weight and obesity, affects youth's food-related behaviours. This study aimed to examine the relationship between exposure to fast food marketing and the fast food brand preferences and intake amongst youth aged 10-17 across six countries. METHODS: Data from 9,695 youth respondents living in Australia, Canada, Chile, Mexico, the United Kingdom (UK) and the United States (US) were analyzed from the 2019 International Food Policy Study (IFPS) Youth Survey. Survey measures assessed exposure to fast food marketing and brand-specific marketing, and preference for these brands and fast food intake. Regression models adjusted for age, sex, income adequacy and ethnicity were used to examine the associations. RESULTS: Exposure to fast food marketing was positively associated with brand preferences and intake consistently across most countries. Overall, preference for McDonald's (OR:1.97; 95% CI:1.52, 2.56), KFC (OR:1.61; 95% CI:1.24, 2.09) and Subway (OR:1.73; 95% CI:1.34, 2.24) were highest when exposed to general fast food marketing ≥ 2x/week compared to never. Preference for McDonald's (OR:2.32; 95% CI:1.92, 2.79), KFC (OR:2.28; 95% CI:1.95, 2.68) and Subway (OR:2.75; 95% CI:2.32, 3.27) were also higher when exposed to marketing for each brand compared to not. Fast food intake was highest in Chile (IRR:1.90; 95% CI:1.45, 2.48), the UK (IRR:1.40; 95% CI:1.20, 1.63), Canada (IRR:1.32; 95% CI:1.19, 1.48), Mexico (IRR:1.26; 95% CI:1.05, 1.53) and the US (IRR:1.21; 95% CI:1.05, 1.41) when exposed to general fast food marketing ≥ 2x/week compared to never and was higher across most countries when exposed to brand-specific marketing compared to not. Respondents classified as ethnic minorities were more likely to report consuming fast food than ethnic majorities, and females were less likely to report consuming fast food than males. CONCLUSIONS: Exposure to fast food marketing is consistently and positively associated with brand preferences and fast food intake in all six countries. Our results highlight the need for strict government regulation to reduce exposure of unhealthy food marketing to youth in all six countries.


Assuntos
Publicidade , Fast Foods , Masculino , Feminino , Humanos , Adolescente , Estados Unidos , Televisão , Marketing , Preferências Alimentares , Ingestão de Alimentos
5.
Bioinformatics ; 39(3)2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36929931

RESUMO

SUMMARY: Founder populations with deep genealogical data are well suited for investigating genetic variants contributing to diseases. Here, we present a major update of the genealogical analysis R package GENLIB, centered around a new function which can simulate the transmission of haplotypes from founders to probands along very large and complex user-specified genealogies. AVAILABILITY AND IMPLEMENTATION: The latest update of the GENLIB package (v1.1.9) contains the new gen.simuHaplo() function and is available on the CRAN repository and from https://github.com/R-GENLIB/GENLIB. Examples can be accessed at https://github.com/R-GENLIB/simuhaplo_functions.


Assuntos
Grupos Populacionais , Software , Humanos , Haplótipos
6.
Expert Rev Cardiovasc Ther ; 21(3): 227-236, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36852632

RESUMO

BACKGROUND: Robotic magnetic navigation (RMN) has emerged as a potential solution to overcome challenges associated with catheter ablation of arrhythmias in patients with congenital heart disease (CHD). OBJECTIVES: To assess safety and efficacy of RMNguided catheter ablation in patients with CHD. DESIGN AND METHODS: A systematic review and pooled analysis was conducted on patients with CHD who underwent RMNguided catheter ablation. Random effects models were used to generate pooled estimates with the inverse variance method used for weighting studies. RESULTS: Twentyfour nonoverlapping records included 167 patients with CHD, mean age 36.5 years, 44.6% female. Type of CHD was simple in 27 (16.2%), moderate in 32 (19.2%), and complex in 106 (63.5%). A total of 202 procedures targeted 260 arrhythmias, the most common being macroreentrant atrial circuits. The mean procedural duration was 207.5 minutes, with a mean fluoroscopy time of 12.1 minutes. The pooled acute success rate was 89.2% [95% CI (77.8%, 97.4%)]. Freedom from arrhythmia recurrence was 84.5% [95% CI (72.5%, 94.0%)] over a mean follow-up of 24.3 months. The procedural complication rate was 3.5% with no complication attributable to RMN technology. CONCLUSION: RMN-guided ablation appears to be safe and effective across a variety of arrhythmia substrates and types of CHD.


Assuntos
Ablação por Cateter , Cardiopatias Congênitas , Procedimentos Cirúrgicos Robóticos , Humanos , Feminino , Adulto , Masculino , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento , Cardiopatias Congênitas/complicações , Arritmias Cardíacas/cirurgia , Ablação por Cateter/efeitos adversos , Ablação por Cateter/métodos , Fenômenos Magnéticos
7.
J Hum Genet ; 68(5): 339-345, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36710296

RESUMO

Sexual maturation is a complex physiological process that involves multiple variables, such as genetic and environmental factors. Among females, age at menarche (AM) is a critical milestone for sexual maturation. This study aimed to identify genetic markers of AM using nationwide population cohort data in Taiwan. Females with self-reported AM between 10 and 16 years (N = 39,827) were eligible for the final analysis. To identify genetic signals related to AM, we conducted a genome-wide association study using a linear regression model and split-half meta-analysis method to verify our findings. The Functional Mapping and Annotation web-based platform was used for positional mapping and gene-based and gene-set analyses. The meta-analysis identified four significant loci, i.e., LIN28B (pooled P = 1.39 × 10-21), NOL4 (pooled P = 8.94 × 10-9), GPR45 (pooled P = 4.19 × 10-11), and LOC105373831 (pooled P = 4.37 × 10-8), that were associated with AM. MAGMA gene-based analysis revealed that LIN28B (P = 1.13 × 10-8), NOL4 (P = 2.27 × 10-7), RXRG (P = 4.34 × 10-7), ETV5 (P = 1.75 × 10-6), and HACE1 (P = 1.82 × 10-6) were significantly associated with AM, while the gene-set analysis identified a significantly enriched pathway involving mTOR signaling complex (FDR corrected P = 1.28 × 10-2). The results replicated evidence for several genetic markers associated with AM in the Taiwanese female population. Our analysis identified a novel locus (rs7239368) in NOL4 associated with AM (ß = 0.051 ± 0.009 years, pooled P = 8.94 × 10-9), whereas additional research is needed to validate its molecular role in sexual maturation.


Assuntos
Estudo de Associação Genômica Ampla , Menarca , Humanos , Feminino , Menarca/genética , Marcadores Genéticos , Bancos de Espécimes Biológicos , Taiwan , Polimorfismo de Nucleotídeo Único , Predisposição Genética para Doença , Proteínas Nucleares/genética , Ubiquitina-Proteína Ligases/genética
8.
CJC Pediatr Congenit Heart Dis ; 2(6Part A): 404-413, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38161682

RESUMO

Arrhythmias are a common complication associated with tetralogy of Fallot (ToF), one of the most prevalent forms of congenital heart disease. As illustrated by this case-based review, various forms of arrhythmias can be encountered across the lifespan of patients with ToF, from infancy to older adulthood. These include atrioventricular block, junctional ectopic tachycardia, and atrial and ventricular arrhythmias. Arrhythmias have important implications on the health and quality of life of patients with ToF and require treatment by caregivers with dedicated expertise. The choice of pharmacologic and/or interventional therapies to alleviate symptoms, avoid complications, and mitigate risks depends in part on the type, severity, and frequency of the arrhythmia, as well as on the particularities of individual clinical scenarios. Preventing, monitoring for, and managing arrhythmias are an integral component of the care of patients with ToF throughout their lifespan that is critical to optimizing health outcomes.


L'arythmie est une complication fréquemment associée à la tétralogie de Fallot (TF), l'une des cardiopathies congénitales les plus courantes. Dans le présent article de synthèse basé sur des études de cas, nous illustrons les différentes formes d'arythmie tout au long de la vie des patients atteints de la TF, de la petite enfance à l'âge adulte avancé. Les formes d'arythmie décrites incluent le bloc atrioventriculaire, la tachycardie jonctionnelle ectopique et les arythmies auriculaire et ventriculaire. L'arythmie a des répercussions importantes sur l'état de santé et sur la qualité de vie des patients atteints de la TF, et elle requiert un traitement par des personnes dotées d'une expertise particulière. Le choix d'un traitement (pharmacologique, interventionnel ou les deux) pour soulager les symptômes, éviter les complications et réduire les risques dépend du type, de la sévérité et de la fréquence de l'arythmie, ainsi que des particularités de chaque tableau clinique. La prévention, la surveillance et la prise en charge de l'arythmie font partie intégrante des soins pour les patients atteints de la TF tout au long de leur vie, et elles sont cruciales pour optimiser les résultats cliniques.

9.
Invest Ophthalmol Vis Sci ; 63(13): 9, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36479943

RESUMO

Purpose: Studies examining the apolipoprotein E (APOE) ε4 allele and glaucoma are inconsistent, which could be due to interactions with other factors. We examined the relationship between the APOE ε4 allele and glaucoma and intraocular pressure in a large, population-based random sample and explored whether the APOE ε4 allele interacted with systemic hypertension. Methods: Data came from the Canadian Longitudinal Study on Aging, a population-based study that included 24,655 adults ages 45 to 85 years old in the European ancestry cohort. APOE genotypes were derived from single-nucleotide polymorphisms rs429358 and rs7412. Participants were asked about a prior diagnosis of glaucoma from a doctor. Corneal compensated intraocular pressure (IOP) was measured using the Reichart Ocular Response Analyzer. Results: Having an APOE ε4 allele was associated with a lower odds of glaucoma after adjusting for age, sex, IOP, and the top 10 population structure principal components (odds ratio [OR] = 0.83; 95% confidence interval [CI], 0.69-0.98; P = 0.033). A novel statistically significant interaction was found in that having an APOE ε4 allele was only associated with glaucoma in those without systemic hypertension (OR = 0.62; 95% CI, 0.46-0.85) although it was not associated in those with it (OR = 0.97; 95% CI, 0.79-1.21) (interaction term P value = 0.017). APOE ε4 was not associated with IOP (ß = -0.01; 95% CI, -0.13 to 0.10). Conclusions: Evidence increasingly points to the APOE ε4 allele having protective benefits against glaucoma, but this association was limited to those without systemic hypertension. Further research is needed to understand the biological mechanisms for these findings and the treatment potential they hold.


Assuntos
Apolipoproteínas E , Glaucoma , Hipertensão , Idoso , Idoso de 80 Anos ou mais , Humanos , Pessoa de Meia-Idade , Canadá/epidemiologia , Glaucoma/genética , Hipertensão/genética , Estudos Longitudinais , Apolipoproteínas E/genética , Polimorfismo de Nucleotídeo Único
10.
Radiographics ; 42(5): 1514-1531, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35839138

RESUMO

When a pediatric hepatic cystic lesion is identified at imaging, the differential diagnosis may be broad, including developmental, infectious, neoplastic, and posttraumatic or iatrogenic causes. The location of a cystic lesion and its number, size, composition, and relationship to the biliary system are features that help in narrowing the differential diagnosis. An incidentally detected simple hepatic cyst is the most commonly encountered. Ciliated foregut cysts are typically located in hepatic segment IVa. The presence of multiple cysts should raise suspicion for fibropolycystic liver disease, a group of related lesions-including biliary hamartoma and choledochal cyst-caused by abnormal embryologic development of the ductal plate. Communication of the cystic lesion with the biliary tree can confirm the diagnosis of choledochal cyst. In a neonate with jaundice, a cystic lesion at the porta hepatis should raise suspicion for choledochal cyst versus cystic biliary atresia. Hepatic abscess can appear cystlike, though typically with internal contents. In an immunocompromised child, multiple cystlike lesions should raise concern for fungal microabscesses. A complex cystic mass in a young child should raise suspicion for mesenchymal hamartoma, which can evolve into undifferentiated embryonal sarcoma if untreated. Hepatic hematoma and biloma can appear cystlike in children with a history of trauma or recent intervention. In neonates with an umbilical vein catheter (UVC), an intrahepatic cyst along the course of the UVC should raise concern for infusate extravasation. Familiarity with imaging findings and clinical features is essential for achieving accurate diagnosis of pediatric hepatic cystic lesions, which in turn can guide appropriate clinical management. Online supplemental material is available for this article. ©RSNA, 2022.


Assuntos
Cisto do Colédoco , Hamartoma , Neoplasias Hepáticas , Criança , Cisto do Colédoco/diagnóstico , Cistos , Diagnóstico Diferencial , Hamartoma/diagnóstico por imagem , Humanos , Recém-Nascido , Hepatopatias , Neoplasias Hepáticas/diagnóstico por imagem , Imagem Multimodal
11.
Circ Cardiovasc Imaging ; 15(4): e013796, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35369710

RESUMO

BACKGROUND: The benefit of fetal echocardiograms (FE) to detect severe congenital heart diseases (SCHD) in the setting of a normal second-trimester ultrasound is unclear. We aimed to assess whether the increase in SCHD detection rates when FE are performed for risk factors in the setting of a normal ultrasound was clinically significant to justify the resources needed. METHODS: This is a multicenter, population-based, retrospective cohort study, including all singleton pregnancies and offspring in Quebec (Canada) between 2007 and 2015. Administrative health care data were linked with FE clinical data to gather information on prenatal diagnosis of CHD, indications for FE, outcomes of pregnancy and offspring, postnatal diagnosis of CHD, cardiac interventions, and causes of death. The difference between the sensitivity to detect SCHD with and without FE for risk factors was calculated using generalized estimating equations with a noninferiority margin of 5 percentage points. RESULTS: A total of 688 247 singleton pregnancies were included, of which 30 263 had at least one FE. There were 1564 SCHD, including 1071 that were detected prenatally (68.5%). There were 12 210 FE performed for risk factors in the setting of a normal second-trimester ultrasound, which led to the detection of 49 additional cases of SCHD over 8 years. FE referrals for risk factors increased sensitivity by 3.1 percentage points (95% CI, 2.3-4.0; P<0.0001 for noninferiority). CONCLUSIONS: In the setting of a normal second-trimester ultrasound, adding a FE for risk factors offered low incremental value to the detection rate of SCHD in singleton pregnancies. The current ratio of clinical gains versus the FE resources needed to screen for SCHD in singleton pregnancies with isolated risk factors does not seem favorable. Further studies should evaluate whether these resources could be better allocated to increase SCHD sensitivity at the ultrasound level, and to help decrease heterogeneity between regions, institutions and operators.


Assuntos
Cardiopatias Congênitas , Ultrassonografia Pré-Natal , Canadá , Ecocardiografia , Feminino , Coração Fetal/anormalidades , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Humanos , Gravidez , Segundo Trimestre da Gravidez , Quebeque/epidemiologia , Estudos Retrospectivos
12.
BMC Genomics ; 23(1): 98, 2022 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-35120458

RESUMO

BACKGROUND: Mixed models are used to correct for confounding due to population stratification and hidden relatedness in genome-wide association studies. This class of models includes linear mixed models and generalized linear mixed models. Existing mixed model approaches to correct for population substructure have been previously investigated with both continuous and case-control response variables. However, they have not been investigated in the context of extreme phenotype sampling (EPS), where genetic covariates are only collected on samples having extreme response variable values. In this work, we compare the performance of existing binary trait mixed model approaches (GMMAT, LEAP and CARAT) on EPS data. Since linear mixed models are commonly used even with binary traits, we also evaluate the performance of a popular linear mixed model implementation (GEMMA). RESULTS: We used simulation studies to estimate the type I error rate and power of all approaches assuming a population with substructure. Our simulation results show that for a common candidate variant, both LEAP and GMMAT control the type I error rate while CARAT's rate remains inflated. We applied all methods to a real dataset from a Québec, Canada, case-control study that is known to have population substructure. We observe similar type I error control with the analysis on the Québec dataset. For rare variants, the false positive rate remains inflated even after correction with mixed model approaches. For methods that control the type I error rate, the estimated power is comparable. CONCLUSIONS: The methods compared in this study differ in their type I error control. Therefore, when data are from an EPS study, care should be taken to ensure that the models underlying the methodology are suitable to the sampling strategy and to the minor allele frequency of the candidate SNPs.


Assuntos
Estudo de Associação Genômica Ampla , Modelos Genéticos , Estudos de Casos e Controles , Simulação por Computador , Modelos Lineares , Fenótipo , Polimorfismo de Nucleotídeo Único
13.
Cancer Causes Control ; 32(6): 653-665, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33818663

RESUMO

PURPOSE: Greater body fatness is a probable cause of advanced prostate cancer (PCa). Body fat distribution and timing of exposure may be relevant. We investigated associations between body size trajectories and PCa incidence in a population-based case-control study in Montreal, Canada. METHODS: Cases (n = 1,931), aged ≤ 75 years, were diagnosed with PCa in 2005-2009; 1,994 controls were selected from the electoral list. Interviews were conducted to assess body mass index (BMI) and Stunkard's silhouette at ages 20, 40, 50, 60 years, and before interview. Current waist and hip circumferences were measured, and a predictive model estimated waist circumference in the past. BMI and waist circumference trajectories were determined to identify subgroups. Logistic regression estimated odds ratios (OR) and 95% confidence intervals (CI) for the association between anthropometric indicators and PCa. RESULTS: Subjects with a current BMI ≥ 30 kg/m2 had a lower risk of overall PCa (OR 0.71, 95% CI 0.59-0.85). Associations with adult BMI followed similar trends for less and more aggressive tumors, with stronger inverse relationships in early adulthood. Contrastingly, current waist circumference ≥ 102 cm was associated with elevated risk of high-grade PCa (OR 1.33, 95% CI 1.03-1.71). Men with increasing BMI or waist circumference adult trajectories had a lower risk of PCa, especially low-grade, than those in the normal-stable range. This was especially evident among men in the obese-increase group for BMI and waist circumference. CONCLUSION: Abdominal obesity increased the risk of aggressive PCa. The inverse relationship between body size trajectories and PCa may reflect PSA hemodilution, lower detection, and/or a true etiological effect.


Assuntos
Obesidade Abdominal/complicações , Obesidade Abdominal/epidemiologia , Obesidade/complicações , Obesidade/epidemiologia , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/etiologia , Adulto , Idoso , Antropometria , Índice de Massa Corporal , Tamanho Corporal , Canadá/epidemiologia , Estudos de Casos e Controles , Humanos , Incidência , Entrevistas como Assunto , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
14.
Front Genet ; 12: 808829, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35126470

RESUMO

Research on the genetics of complex traits overwhelmingly focuses on the additive effects of genes. Yet, animal studies have shown that non-additive effects, in particular homozygosity effects, can shape complex traits. Recent investigations in human studies found some significant homozygosity effects. However, most human populations display restricted ranges of homozygosity by descent (HBD), making the identification of homozygosity effects challenging. Founder populations give rise to higher HBD levels. When deep genealogical data are available in a founder population, it is possible to gain information on the time to the most recent common ancestor (MRCA) from whom a chromosomal segment has been transmitted to both parents of an individual and in turn to that individual. This information on the time to MRCA can be combined with the time to MRCA inferred from coalescent models of gene genealogies. HBD can also be estimated from genomic data. The extent to which the genomic HBD measures correspond to the genealogical/coalescent measures has not been documented in founder populations with extensive genealogical data. In this study, we used simulations to relate genomic and genealogical/coalescent HBD measures. We based our simulations on genealogical data from two ongoing studies from the French-Canadian founder population displaying different levels of inbreeding. We simulated single-nucleotide polymorphisms (SNPs) in a 1-Mb genomic segment from a coalescent model in conjunction with the observed genealogical data. We compared genealogical/coalescent HBD to two genomic methods of HBD estimation based on hidden Markov models (HMMs). We found that genomic estimates of HBD correlated well with genealogical/coalescent HBD measures in both study genealogies. We described generation time to coalescence in terms of genomic HBD estimates and found a large variability in generation time captured by genomic HBD when considering each SNP. However, SNPs in longer segments were more likely to capture recent time to coalescence, as expected. Our study suggests that estimating the coalescent gene genealogy from the genomic data to use in conjunction with observed genealogical data could provide valuable information on HBD.

15.
J Assoc Med Microbiol Infect Dis Can ; 6(2): 137-148, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36341035

RESUMO

Background: The clinical and demographic characteristics that predict antiretroviral efficacy among patients co-infected with HIV and hepatitis B virus (HBV) remain poorly defined. We evaluated HIV virological suppression and rebound in a cohort of HIV-HBV co-infected patients initiated on antiretroviral therapy. Methods: A retrospective cohort analysis was performed with Canadian Observation Cohort Collaboration data. Cox proportional hazards models were used to determine the factors associated with time to virological suppression and time to virological rebound. Results: HBV status was available for 2,419 participants. A total of 8% were HBV co-infected, of whom 95% achieved virological suppression. After virological suppression, 29% of HIV-HBV co-infected participants experienced HIV virological rebound. HBV co-infection itself did not predict virological suppression or rebound risk. The rate of virological suppression was lower among patients with a history of injection drug use or baseline CD4 cell counts of <199 cells per cubic millimetre. Low baseline HIV RNA and men-who-have-sex-with-men status were significantly associated with a higher rate of virological suppression. Injection drug use and non-White race predicted viral rebound. Conclusions: HBV co-infected HIV patients achieve similar antiretroviral outcomes as those living with HIV mono-infection. Equitable treatment outcomes may be approached by targeting resources to key subpopulations living with HIV-HBV co-infection.


Historique: Les caractéristiques cliniques et démographiques prédictives de l'efficacité antirétrovirale chez les patients co-infectés par le virus de l'immunodéficience humaine (VIH) et le virus de l'hépatite B (VHB) demeurent mal définies. Les chercheurs ont évalué la suppression et le rebond virologiques du VIH dans une cohorte de patients co-infectés par le VIH et le VHB chez qui on avait entrepris un traitement antirétroviral. Méthodologie: Les chercheurs ont réalisé une analyse rétrospective de cohorte à l'aide des données de la Canadian Observation Cohort Collaboration. Ils ont utilisé le modèle à risques proportionnels de Cox pour déterminer les facteurs associés à la période jusqu'à la suppression et au rebond virologiques. Résultats: Les chercheurs ont obtenu le statut de VHB de 2 419 participants. Au total, 8 % étaient co-infectés par le VHB, dont 95 % présentaient une suppression virologique. Après la suppression virologique, 29 % des participants co-infectés par le VIH et le VHB ont subi un rebond virologique du VIH. En elle-même, la co-infection par le VHB n'était pas prédictive de la suppression virologique ou du risque de rebond. Le taux de suppression virologique était plus faible chez les patients ayant des antécédents de consommation de drogues injectables ou une numération des cellules CD4 de référence de moins de 199 cellules par millimètre cube. Un ARN du VIH de référence bas et les hommes ayant des relations sexuelles avec des hommes étaient associés de manière significative avec un taux plus élevé de suppression virologique. La consommation de drogues injectables et les races non blanches étaient prédictives d'un rebond viral. Conclusion: Les patients atteints du VHB co-infectés par le VIH obtenaient des résultats antirétroviraux semblables à ceux qui étaient seulement infectés par le VIH. On peut anticiper des résultats cliniques équitables des traitements en ciblant les ressources vers les sous-populations atteintes d'une co-infection par le VIH et le VHB.

16.
Acta Radiol ; 62(5): 628-638, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32640887

RESUMO

BACKGROUND: A common feature of hip arthritis is the presence of labra tears. Recent literature suggests against the use of magnetic resonance imaging (MRI) in patients aged >45 years for the assessment of hip pain related to arthritis. PURPOSE: To determine if radiographic features of osteoarthritis detectable on routine hip radiographs are accurate and reliable surrogate markers of degenerative acetabular labral tears identified on MR arthrography (MRA) and corroborated during arthroscopy. MATERIAL AND METHODS: A retrospective study involving 86 symptomatic patients (hip pain) with radiologic work-up included MRA and pelvic or hip radiographs that underwent hip arthroscopy within three months. Imaging characteristics assessed on hip radiographs include measurements of superior acetabular, femoral head osteophyte, cortical thickness of the femoral shaft, and minimum joint space as well as presence of subchondral sclerosis of the femoral head and acetabulum, femoral shaft buttressing, and grade of arthritis. Presence of a labral tear was determined by consensus between three readers as well as by surgical correlation. The Pearson's chi-squared and Fisher's exact tests were used to compare presence of labral tears with each radiographic feature. RESULTS: Seventy-one patients (82.6%) had labral tears: 49 (69%) women and 22 (31%) men. Receiver operating characteristic analysis showed statistical significance (P<0.05) between presence of a labral tear and acetabular and femoral head osteophyte sizes but failed to demonstrate any significance regarding acetabular subchondral sclerosis, cortical thickness, buttressing, or minimum joint space. CONCLUSIONS: Radiographic markers such as the acetabular and femoral head osteophyte sizes demonstrated statistical significance with the presence of labral tears.


Assuntos
Artrografia , Cartilagem Articular/diagnóstico por imagem , Cartilagem Articular/patologia , Articulação do Quadril/diagnóstico por imagem , Articulação do Quadril/patologia , Imageamento por Ressonância Magnética , Osteoartrite do Quadril/diagnóstico por imagem , Adulto , Idoso , Artrografia/métodos , Artroscopia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos
17.
Pediatr Radiol ; 51(1): 131-139, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32965564

RESUMO

Pulmonary metastases typically present as well-circumscribed solid nodules, often with a basilar and peripheral distribution due to hematogenous spread. When an atypical pattern of metastasis occurs, a lack of recognition may result in understaging or a delay in diagnosis. The purpose of this article is to review the imaging findings of atypical pulmonary metastatic disease in children. Atypical pulmonary metastatic patterns that can be seen in children include cavitary lesions, calcified pulmonary nodules, nodules with peritumoral halos, tree-in-bud or strial pattern secondary to tumor in peripheral pulmonary arterial branches, lymphangitic carcinomatosis, and miliary disease. An awareness of the spectrum of imaging findings of atypical pulmonary metastases along with an understanding of histopathological underpinnings will allow the radiologist to make an accurate diagnosis.


Assuntos
Neoplasias Pulmonares , Nódulos Pulmonares Múltiplos , Criança , Testes Diagnósticos de Rotina , Humanos , Pulmão , Neoplasias Pulmonares/diagnóstico por imagem , Tomografia Computadorizada por Raios X
18.
AJR Am J Roentgenol ; 216(1): 241-251, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33211573

RESUMO

OBJECTIVE. Loss of the neurofibromatosis type 1 (NF1) tumor suppressor protein causes uninhibited activation of the RAS oncogene, which leads to tumorigenesis in patients with NF1. This case-based review discusses imaging manifestations of NF1 in the abdomen and pelvis, highlighting key genetic associations and management to elucidate features different from the general population. CONCLUSION. The spectrum of pathologic findings includes gastrointestinal tumors such as gastrointestinal stromal tumors, genitourinary lesions including urogenital neurofibromas, vascular entities such as renal artery stenosis, and less common associations like lymphoma.


Assuntos
Abdome/diagnóstico por imagem , Neurofibromatose 1/diagnóstico por imagem , Pelve/diagnóstico por imagem , Humanos
19.
Prev Med Rep ; 20: 101167, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32939332

RESUMO

This study aimed at characterizing anthropometric indicators that can be used as alternatives to measurements for assessing overall obesity over adulthood and abdominal obesity among men. We used data from a population-based case-control study of prostate cancer conducted in Montreal, Canada in 2005-2012. It included men aged ≤ 75 years, 1872 of which were newly diagnosed with prostate cancer, and 1918 others randomly selected from the electoral list. In-person interviews elicited reports of height as well as of weight, pants size and Stunkard's silhouette at 5 time points over adulthood, i.e., for the ages of 20, 40, 50 and 60 years, if applicable, and at the time of interview. Waist and hip circumferences were measured by interviewers following a validated protocol. Analyses were conducted on the overall sample of 3790 subjects, after having confirmed that results did not differ according to disease status. Stunkard's silhouette scale proved to be an easy-to-administer tool that reflects well reported body mass index, either recently or decades in the past among adult males. It was discriminatory enough to classify individuals according to commonly-used obesity categories. We observed that a model including age, reported pants size, silhouette and weight can reasonably predict current abdominal obesity. In conclusion, alternative anthropometric indicators can serve as valuable means to assess overall and abdominal obesity when measurements cannot be envisaged in the context of epidemiological studies.

20.
Radiographics ; 40(3): 731-753, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32302263

RESUMO

Intra-abdominal calcifications are common. Multiple pathologic processes manifest within the abdomen and pelvis in association with calcifications, which can be benign, premalignant, or malignant. Although calcium deposition in the abdomen can occur secondary to various mechanisms, the most common cau se is cellular injury that leads to dystrophic calcifications. The authors provide a summary of various common and uncommon calcifications in the abdomen and pelvis, primarily using location to illuminate diagnostic significance. Six broad categories of calcifications in the abdomen and pelvis are recognized: mesenteric, peritoneal, retroperitoneal, organ-based, vascular, and musculoskeletal. In addition to site, the various patterns and morphology of calcifications encountered in various conditions can be helpful for diagnosis, especially those depicted on radiographs. For example, some patterns diagnostic for various conditions include round or oval stones in the biliary or urothelial tracts, curvilinear calcifications associated with cysts or neoplasms, and sheetlike calcifications along peritoneal surfaces in the setting of chronic peritoneal dialysis or metastatic disease. Organ encrustation with calcium may be a premalignant finding (eg, porcelain gallbladder). In addition, the development of calcium after initiation of treatment can be used as an indicator of response in conditions such as tuberculosis, lymphoma, and hydatid disease. As calcifications are almost invariably detected at imaging, it is imperative for radiologists to be aware of their diagnostic implications and use the presence of calcification in an organ, mass, or other anatomic location for problem solving. ©RSNA, 2020.


Assuntos
Cavidade Abdominal/diagnóstico por imagem , Neoplasias Abdominais/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Pelve/diagnóstico por imagem , Diagnóstico Diferencial , Humanos
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