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1.
J Womens Health (Larchmt) ; 33(5): 624-628, 2024 May.
Article in English | MEDLINE | ID: mdl-38488054

ABSTRACT

Objective: To determine the utilization of risk-reducing strategies and screening protocols for ovarian cancer in female BRCA1/2 carriers. Methods: This study was a sub-analysis of female participants from a larger multicenter, cross-sectional survey of BRCA1/2 mutation carriers unaffected by cancer. The questionnaire was administered electronically via email at four institutions located in the northeast United States. Data were analyzed with Fisher's exact test. Results: The survey was completed by 104 female BRCA mutation carriers. BRCA subtypes included 54.3% BRCA2, 41.0% BRCA1, and 2.9% both. The age at which patients underwent genetic testing varied 21.2% were 18-24 years, 25.0% were 25-34 years, 29.8% were 35-44 years, and 24.0% were 45 years or older. Nearly, all respondents (97.1%) reported that a provider had discussed risk-reducing surgeries. Of the 79 females who underwent genetic testing before 45 years of age, 53.2% reported that a health care provider recommended taking combined oral contraceptive pills (COCs) to reduce their risk of ovarian cancer, and, of these women, 88.1% chose to use them. COCs were offered at higher rates among women who were younger at the age of genetic testing (18-24: 86%, 25-34: 62%, 35-44: 23%; p < 0.0001). Approximately half (55.8%) of the respondents reported having been offered increased screening for possible early detection of ovarian cancer, of which 81.0% chose to undergo screening. The majority utilized a combination of transvaginal ultrasound and serum CA125 measurements. There were no differences observed in screening utilization based on BRCA mutation type. Conclusion: In our cohort of female BRCA mutation carriers, risk-reducing surgery was offered to almost all women, whereas only half were offered risk-reducing medication and/or increased screening. Further investigation is needed to identify barriers to the utilization of risk-reducing strategies among this high-risk population.


Subject(s)
Genetic Testing , Mutation , Ovarian Neoplasms , Risk Reduction Behavior , Humans , Female , Ovarian Neoplasms/genetics , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/prevention & control , Adult , Middle Aged , Cross-Sectional Studies , Surveys and Questionnaires , Genes, BRCA1 , Young Adult , Genes, BRCA2 , Genetic Predisposition to Disease , Heterozygote , Adolescent , Early Detection of Cancer , BRCA1 Protein/genetics
2.
Menopause ; 30(7): 732-737, 2023 07 01.
Article in English | MEDLINE | ID: mdl-37192837

ABSTRACT

OBJECTIVE: This study aimed to identify barriers to hormone therapy (HT) use among women with BRCA1/2 mutations after prophylactic bilateral salpingo-oophorectomy (BSO). METHODS: A cross-sectional, electronic survey was conducted of BRCA1/2 mutation carriers at Women and Infants Hospital, Yale Medical Center, Hartford Healthcare, and Maine Medical Center. This study was a subanalysis of a subset of female BRCA1/2 mutation carriers who had undergone a prophylactic BSO. Data were analyzed using the Fisher's exact test or t test. RESULTS: We performed a subanalysis of 60 BRCA mutation carriers who underwent a prophylactic BSO. Only 24 women (40%) reported ever using HT. HT use was higher in women who underwent their prophylactic BSO at age younger than 45 years (51% vs. 25%, P = 0.06). Among all women who had a prophylactic BSO, the majority (73%) reported that a provider talked to them about using HT. Two thirds reported having seen contradictory information in the media about long-term consequences of HT. Seventy percent listed their provider as the primary influence in their decision to start HT. The most common reasons for not starting HT included it not being recommended by their physician (46%) and that it was not necessary (37%). CONCLUSIONS: BRCA mutation carriers frequently undergo prophylactic BSO at young ages, and less than half report using HT. This study highlights barriers to HT use, such as patient fears and physician discouragement, and identifies potential areas to improve educational efforts.


Subject(s)
Breast Neoplasms , Ovarian Neoplasms , Salpingo-oophorectomy , Female , Humans , Middle Aged , BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , Cross-Sectional Studies , Genes, BRCA1 , Genes, BRCA2 , Hormones , Mutation , Ovarian Neoplasms/genetics , Ovarian Neoplasms/prevention & control , Ovariectomy
3.
Curr Psychiatry Rep ; 23(11): 70, 2021 10 06.
Article in English | MEDLINE | ID: mdl-34613542

ABSTRACT

PURPOSE OF REVIEW: During the COVID-19 pandemic, both social media use and rates of anxiety and depression among college students have increased significantly. This begs the question, what is the relationship between social media use and college student mental health during the COVID-19 pandemic? RECENT FINDINGS: Prior studies have found mixed results regarding the relationship between social media use and college student mental health. This relationship has become increasingly complex during the COVID-19 pandemic. We found that excessive or problematic social media use during the COVID-19 pandemic was correlated with worse mental health outcomes that could be mitigated by dialectical thinking, optimism, mindfulness, and cognitive reappraisal. The COVID-19 pandemic acts as a moderator by strengthening the relationship between social media use and mental health. Future studies should consider the impact of social media on college student mental health and concentrate on intervention initiatives to ensure the psychological well-being of college students during a global pandemic outbreak.


Subject(s)
COVID-19 , Social Media , Humans , Mental Health , Pandemics , SARS-CoV-2
4.
J Genet Couns ; 30(6): 1570-1581, 2021 12.
Article in English | MEDLINE | ID: mdl-33904624

ABSTRACT

BRCA1 and BRCA2 pathogenic variant carriers have a high lifetime risk of developing breast and ovarian malignancies. Given the risks and significant ramifications of undergoing risk-reducing surgeries, many pathogenic variant carriers unaffected by cancer (previvors) struggle with family planning and reproductive decision making. The objective of this study was to determine the attitudes and practices of BRCA1 and BRCA2 pathogenic variant carriers with respect to family planning decision making. A cross-sectional survey was conducted of BRCA1 and BRCA2 previvors at four Northeastern medical centers. The survey was administered electronically via email using REDCap. The survey included demographic information as well as questions about genetic testing, prophylactic surgeries, family planning, and partnering. Data were analyzed with Fisher's exact tests and t tests. The survey was completed by 139 of 422 BRCA1 and BRCA2 pathogenic variant carriers (response rate 33%). Thirteen were excluded from analysis due to self-reported cancer history. Of the remaining 126, 21 (16.7%) were male and 105 (83.3%) were female. Female participants <35 years old at the time of genetic testing were significantly more likely than those 35 or greater to report feeling urgency to have a family after finding out about their BRCA1 and BRCA2 pathogenic variant (p < 0.0001). Younger women also reported their genetic status had a stronger impact on their romantic relationships (p = 0.029). Men were significantly more likely to report that they felt no urgency to have a family compared to women (p < 0.0001). Our study reflects the complex decision making for previvors and the intricacies of family planning in this population. Providers can use this knowledge as a guide to counsel patients about reproductive options.


Subject(s)
Breast Neoplasms , Ovarian Neoplasms , Adult , BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , Cross-Sectional Studies , Family Planning Services , Female , Genes, BRCA2 , Genetic Predisposition to Disease , Genetic Testing , Heterozygote , Humans , Male , Ovarian Neoplasms/genetics , Ovarian Neoplasms/prevention & control
5.
ACM arq. catarin. med ; 48(2): 21-33, abr.-jun. 2019.
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1023436

ABSTRACT

O trabalho objetivou avaliar a correlação da circunferência do pescoço com resistência insulínica e com componentes da síndrome metabólica em adolescentes púberes. Realizou-se um estudo transversal no qual se avaliaram 36 adolescentes púberes, de 10 a 19 anos que acompanham regularmente em ambulatório de Saúde na Adolescência, portadores da síndrome em questão. Os adolescentes foram submetidos à avalição antropométrica, incluindo circunferência do pescoço, da cintura e razão cintura/estatura, e avaliação de bioquímica do prontuário. O estudo foi aprovado pelo comitê de ética local sendo assinado o termo de consentimento livre pelo responsável e assentido pelo adolescente. Os dados foram analisados pelo programa estatístico SPSS sendo adotado nível de significância de 5%. Do total dos adolescentes 19 eram do sexo feminino e 17 do sexo masculino. A circunferência do pescoço média do sexo masculino foi de 37,09 ±1,25 e do sexo feminino foi de 35,68 ±0,69, sem diferença entre os sexos (p=0,35). A razão cintura/estatura média do sexo masculino foi de 0,61 ±0,14 e do sexo feminino foi de 0,59 ±0,01, sem diferença entre os sexos (p=0,75). Houve correlação positiva entre a circunferência do pescoço com as seguintes variáveis: índice de massa corpórea (p=0,000), circunferência abdominal (p=0,000), razão cintura/estatura (p=0,01) e HOMA-IR (p=0,02). A circunferência do pescoço correlacionou-se com parâmetros importantes de avalição da síndrome metabólica sendo um instrumento útil para triagem de adolescentes com este quadro.


The objective of this study was to evaluate the correlation of neck circumference with insulin resistance and components of the metabolic syndrome in pubertal adolescents. A cross-sectional study was carried out in which 36 pubescent adolescents, aged 10 to 19 years, were evaluated and followed regularly in a health clinic for adolescents with the syndrome in discussion. The adolescents were submitted to anthropometric evaluation, including neck circumference, waist and waist / height ratio, and biochemical evaluation of the medical record. The study was approved by the local ethics committee and the consent form was signed by the person responsible and the adolescent. The data were analyzed by the SPSS statistical program and a significance level of 5% was adopted. Of the total number of adolescents, 19 were female and 17 were male. The mean male neck circumference was 37.09 ± 1.25 and the female sex was 35.68 ± 0.69, with no difference between the sexes (p = 0.35). The mean waist / height ratio of males was 0.61 ± 0.14 and female was 0.59 ± 0.01, with no difference between the sexes (p = 0.75). There was a positive correlation between neck circumference with the following variables: body mass index (p = 0.000), waist circumference (p = 0.000), waist / height ratio (p = 0.01) and HOMA-IR (p=0,02). The circumference of the neck correlated with important parameters of metabolic syndrome evaluation, being a useful tool for screening adolescents with this condition.

6.
AMIA Jt Summits Transl Sci Proc ; 2017: 502-511, 2017.
Article in English | MEDLINE | ID: mdl-28815150

ABSTRACT

Obstructive sleep apnea (OSA) is one of the most common diseases among Americans, affecting between 5 and 20% of the population. While there is existing evidence of numerous comorbid conditions, such as obesity, diabetes, and high blood pressure, the vast majority of this evidence has focused explicitly on cardiovascular morbidities and excluded any mental or behavioral disorders. The goal of this study was to examine psychiatric comorbidities of OSA in two types of sources: (1) biomedical literature in the MEDLINE/PubMed database (focusing on MeSH descriptors) and Semantic MEDLINE Database (SemMedDB; for semantic predications), and (2) electronic health record data in the MIMIC-III database. Approximately 300 unique psychiatric comorbidities were identified, ranked, and compared across MEDLINE/PubMed, SemMedDB, and MIMIC-III. The preliminary results highlight the potential of this multi-angled approach for suggesting opportunities for further investigation that may contribute to improving mental health in persons afflicted with OSA.

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