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1.
Semin Intervent Radiol ; 40(4): 384-388, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37575344

RESUMO

Labial varices are commonly seen in women with varicose veins of the pelvis. Initial management is conservative management since labial varies typically resolve, particularly in pregnant patients following delivery. Varices can be seen also in association with pelvic varices in the pelvic venous disease spectrum. Sclerotherapy is often the management. This article reviews the presentation and treatment of patients with labial varices, with a focus on interventional radiologic management.

2.
Sci Rep ; 13(1): 6534, 2023 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-37085695

RESUMO

Twin studies indicate that 30-40% of the disease liability for depression can be attributed to genetic differences. Here, we assess the explanatory ability of polygenic scores (PGS) based on broad- (PGSBD) and clinical- (PGSMDD) depression summary statistics from the UK Biobank in an independent sample of adults (N = 210; 100% European Ancestry) who were extensively phenotyped for depression and related neurocognitive traits (e.g., rumination, emotion regulation, anhedonia, and resting frontal alpha asymmetry). The UK Biobank-derived PGSBD had small associations with MDD, depression severity, anhedonia, cognitive reappraisal, brooding, and suicidal ideation but only the association with suicidal ideation remained statistically significant after correcting for multiple comparisons. Similarly small associations were observed for the PGSMDD but none remained significant after correcting for multiple comparisons. These findings provide important initial guidance about the expected effect sizes between current UKB PGSs for depression and depression-related neurocognitive phenotypes.


Assuntos
Anedonia , Depressão , Humanos , Depressão/genética , Depressão/psicologia , Ideação Suicida , Fenótipo , Herança Multifatorial/genética , Estudo de Associação Genômica Ampla
3.
Radiol Case Rep ; 16(11): 3201-3207, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34484519

RESUMO

Age is a risk factor for breast cancer in females, and over 60% of female breast cancer deaths occur in those aged 65 and older. As the population in the United States continues to age, it is expected that there will be a commensurate increase in the number of women diagnosed with breast cancer, making understanding of effective treatment and management of breast cancer in the elderly essential. Here, we review the treatment and management of early breast cancer in the elderly. We report a case of invasive mucinous carcinoma in an 80-year-old female detected on routine clinical breast exam by her primary care physician. Mucinous carcinoma of the breast is a type of rare invasive neoplasm that generally carries an excellent prognosis. Following an ultrasound-guided core needle biopsy, a right breast needle localized segmental mastectomy was performed and the patient was prescribed an aromatase inhibitor for hormone-receptor positive tumor. After a follow-up of 8 years, the patient remains free of recurrence or metastasis and vibrantly living meaningful daily life.

4.
Nicotine Tob Res ; 23(12): 2102-2109, 2021 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-34008017

RESUMO

INTRODUCTION: Heritability estimates of nicotine dependence (ND) range from 40% to 70%, but discovery GWAS of ND are underpowered and have limited predictive utility. In this work, we leverage genetically correlated traits and diseases to increase the accuracy of polygenic risk prediction. METHODS: We employed a multi-trait model using summary statistic-based best linear unbiased predictors (SBLUP) of genetic correlates of DSM-IV diagnosis of ND in 6394 individuals of European Ancestry (prevalence = 45.3%, %female = 46.8%, µâ€Šage = 40.08 [s.d. = 10.43]) and 3061 individuals from a nationally-representative sample with Fagerström Test for Nicotine Dependence symptom count (FTND; 51.32% female, mean age = 28.9 [s.d. = 1.70]). Polygenic predictors were derived from GWASs known to be phenotypically and genetically correlated with ND (i.e., Cigarettes per Day [CPD], the Alcohol Use Disorders Identification Test [AUDIT-Consumption and AUDIT-Problems], Neuroticism, Depression, Schizophrenia, Educational Attainment, Body Mass Index [BMI], and Self-Perceived Risk-Taking); including Height as a negative control. Analyses controlled for age, gender, study site, and the first 10 ancestral principal components. RESULTS: The multi-trait model accounted for 3.6% of the total trait variance in DSM-IV ND. Educational Attainment (ß = -0.125; 95% CI: [-0.149,-0.101]), CPD (0.071 [0.047,0.095]), and Self-Perceived Risk-Taking (0.051 [0.026,0.075]) were the most robust predictors. PGS effects on FTND were limited. CONCLUSIONS: Risk for ND is not only polygenic, but also pleiotropic. Polygenic effects on ND that are accessible by these traits are limited in size and act additively to explain risk. IMPLICATIONS: These findings enhance our understanding of inherited genetic factors for nicotine dependence. The data show that genome-wide association study (GWAS) findings across pre- and comorbid conditions of smoking are differentially associated with nicotine dependence and that when combined explain significantly more trait variance. These findings underscore the utility of multivariate approaches to understand the validity of polygenic scores for nicotine dependence, especially as the power of GWAS of broadly-defined smoking behaviors increases. Realizing the potential of GWAS to inform complex smoking behaviors will require similar theory-driven models that reflect the myriad of mechanisms that drive individual differences.


Assuntos
Alcoolismo , Tabagismo , Adulto , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Herança Multifatorial/genética , Fumar , Tabagismo/diagnóstico , Tabagismo/epidemiologia , Tabagismo/genética
5.
Addiction ; 116(10): 2779-2789, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33686717

RESUMO

BACKGROUND AND AIMS: Cannabis use (CU) is an etiologically complex behavior with several social, temperamental, neurocognitive, and behavioral precursors. Biometrical and molecular studies suggest an interplay of environmental and pleiotropic influences. However, it remains unclear whether identified genetic effects related to behavioral and temperamental characteristics have developmentally direct or indirect mechanisms on CU behavior. The Transmissible Liability Index (TLI) is a measure of continuous liability based on developmental precursors of substance use disorders. This study aimed to examine if the TLI plays a role in understanding genetic risk for CU behaviors. DESIGN: Genome-wide association studies (n > 10 000; European Ancestry [EA]) of CU, risk tolerance, neuroticism, anxiety, and depression were used to construct polygenic scores (PGSs). Analyses assessed whether PGSs indirectly impacted risk for repeated use via TLI. SETTING: United States of America. PARTICIPANTS: From Add Health study, 4077 individuals of EA age 11 to 21 during baseline interview collection. MEASUREMENTS: Outcomes were initiation and repeated cannabis use (>5× in lifetime). The TLI was parameterized using a latent factor from 21 questions assessing for precursors of disordered use. FINDINGS: The marker-based heritability of TLI, initiation, and repeated use were significant, but modest (14%, P = 0.033; 15%, P = 0.025; and 17%, P = 0.008, respectively). TLI and repeated use were genetically correlated (rg  = 0.76, P = 0.033). The PGS for CU was associated with increased risk for repeated use and PGS for risk tolerance and depression were associated with TLI. Mediation analyses indicated significant, but very weak, indirect effects of PGS for risk tolerance and depression on repeated CU via the TLI. CONCLUSIONS: Adolescent behavioral and temperamental characteristics (i.e. the Transmissible Liability Index) appear to be early indicators of repeated cannabis use in adulthood. Although polygenic scores for cannabis use directly increased risk for repeated cannabis use, weak evidence was found for the role of polygenic scores of other internalizing/externalizing traits acting through adolescent derived Transmissible Liability Index on cannabis use behavior.


Assuntos
Cannabis , Adolescente , Adulto , Transtornos de Ansiedade , Criança , Estudo de Associação Genômica Ampla , Humanos , Herança Multifatorial/genética , Fatores de Risco , Adulto Jovem
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