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BACKGROUND: Germline genetic testing is recommended for men with metastatic or high-risk prostate cancer to inform treatment and risk management for other cancers and inform genetic testing in at-risk relatives. However, relatively few patients with prostate cancer undergo genetic testing. Given the low rate of testing and increasing demands on genetic service providers, strategies are needed that reduce barriers to testing while conserving genetic counseling resources. The primary goal of this study was to determine whether a proactive and streamlined "traceback" approach could yield increased genetic testing participation among prostate cancer survivors. METHODS: We randomized 107 survivors of metastatic and high-risk prostate cancer to streamlined testing (ST) versus enhanced usual care (EUC). ST participants were proactively provided with print genetic education materials and the option to proceed to genetic testing without pre-test genetic counseling. EUC participants were sent a letter from their physician advising them of their eligibility for genetic testing and recommending they schedule genetic counseling. The primary outcome was genetic testing participation. Secondary outcomes were distress, knowledge, decision satisfaction, and regret. RESULTS: In the ST group, 41.5% of participants completed genetic testing compared with 27.8% in the EUC group. After adjusting for education and marital status, the odds of testing were more than twice as high for the ST group as for the EUC group (odds ratio, 2.57; 95% CI, 1.05-6.29). The groups did not differ on any of the psychosocial outcomes at the 3-month follow-up. CONCLUSIONS: Proactive outreach paired with streamlined genetic testing delivery may be a safe, effective, and resource-efficient approach to facilitate traceback genetic testing in prostate cancer survivors.
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Supervivientes de Cáncer , Neoplasias de la Próstata , Humanos , Masculino , Asesoramiento Genético , Pruebas Genéticas , Mutación , Proyectos Piloto , Próstata , Neoplasias de la Próstata/diagnóstico , Neoplasias de la Próstata/genéticaRESUMEN
Colorectal cancer (CRC) is the third most common malignancy and the second most common deadly cancer worldwide as of 2020. Unusual presentation of this cancer with locally advanced disease is rare and seen in only 5% to 22% of cases. We present the case of a 53-year-old male who had invasive cecal adenocarcinoma with phlegmon of the abdominal wall musculature at presentation and an aggressive course that did not respond to the standard lines of therapy. In the current era of ongoing tremendous developments in colorectal cancer diagnosis and treatment, this uncommon case reminds us that locally advanced CRC is still a challenge to manage. Precision medicine with treatment strategies tailored to an individual's genetic, environmental and lifestyle factors is the current need.
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Pared Abdominal , Neoplasias Colorrectales , Masculino , Humanos , Persona de Mediana Edad , Pared Abdominal/patología , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/patología , Neoplasias Colorrectales/terapia , Celulitis (Flemón)/diagnósticoRESUMEN
Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome that arises due to a dysregulated immune response caused by the aberrant activation of lymphocytes and macrophages. In this rare case report, we describe a newly diagnosed human immunodeficiency virus (HIV) patient who was found to have Epstein-Barr virus (EBV) provoked HLH and co-existing Hodgkin lymphoma (HL). Our patient was a 28-year-old newly diagnosed HIV patient who presented with nonspecific symptoms, including bilateral foot pain and tingling sensation. Laboratory findings were significant for pancytopenia. With a high index of suspicion, the patient had a bone marrow biopsy done which confirmed a diagnosis of both HLH and Hodgkin's lymphoma. The case highlighted the diagnostic dilemma of HLH in the setting of HIV infection. Identifying the major components of his disease process was pivotal to ensure that the patient was commenced on appropriate therapy for the EBV-driven HLH and HL. The diagnosis of HLH in newly diagnosed HIV remains challenging due to the diverse clinical presentations and the need to exclude other possible causes. The clinical features of HLH, HL, and HIV can be nonspecific and overlap, creating a diagnostic dilemma. Diagnosis requires a combination of clinical, laboratory, and histopathological features. The management in such cases requires prompt diagnosis through a multidisciplinary approach, a variety of chemotherapy, immunosuppression, supportive care, and treatment of the underlying triggers.
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Coronavirus disease 2019 (COVID-19) is a respiratory illness caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus that can induce myopathy, which can evolve into potentially life-threatening muscle weakness, including diaphragmatic paralysis. We present a case report of a 57-year-old female treated in the medical ICU for acute respiratory distress syndrome (ARDS) triggered by active COVID-19 infection, who subsequently developed worsening respiratory weakness from underlying COVID-19 myopathy manifesting as respiratory muscle weakness. Our patient's muscle biopsy highlights the development of muscle atrophy without evidence of inflammatory myopathy, making the presence of pre-existing autoimmune myopathy unlikely. While literature cites different biochemical etiologies for the development of myopathy, the exact mechanism behind this phenomenon is not yet defined.
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[This corrects the article DOI: 10.7759/cureus.32106.].
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Bladder cancer is a prevalent disease, and treatment options for advanced bladder cancer remain limited. However, immune checkpoint inhibitors (ICIs) targeting cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) and programmed cell death-1 (PD-1) have shown promise in treating bladder cancer. These drugs work by blocking receptors and ligands, disrupting signaling, and allowing T cells to recognize and attack cancer cells. ICIs have been found to be effective in treating bladder cancer, especially in cases of metastatic urothelial carcinoma (UC) that have progressed after chemotherapy. Furthermore, combination therapy with ICIs and chemotherapy or radiation therapy has shown promise in treating bladder cancer. While there are challenges associated with ICIs, including adverse effects, immune-related adverse events, and lack of efficacy in some patients, they remain a promising option for bladder cancer treatment, especially in cases where other treatment options have failed. This review paper focuses on the current role, challenges, and future trends of immunotherapy in the management of bladder cancer.
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Multiple myeloma is a neoplastic proliferation of immunoglobulin-producing plasma cells with clinical features resulting from infiltration of plasma cells into bones and other organs. Multiple myeloma manifesting as an apical lung mass is less common and very few cases have been reported. We report the case of a 50-year-old female who presented with an apical lung mass which happened to be multiple myeloma arising from the upper ribs into the lung. At the time of diagnosis, patient had axillary lymph node metastasis with extensive bony involvement. This case report and literature review provides insight to a rare but significant presentation of multiple myeloma and highlights the need to consider multiple myeloma as a possible differential for Pancoast tumor in the appropriate clinical setting as this could potentially affect management options and patient outcome.
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Osler's triad, an alternative term for Austrian syndrome, has a complex pathology comprising of pneumonia, meningitis, and endocarditis, all of which are caused by the hematogenous dissemination of Streptococcus pneumoniae. It can affect multiple organ systems, resulting in this rare but complex triad. With the advent of antibiotics, the incidence and severity of the disease have reduced remarkably. However, it still remains a lethal disease requiring early diagnosis and prompt treatment. We present the case of a 58-year-old male, with a past medical history of cerebrovascular accident and alcohol dependency, who presented with altered mental status, flu-like symptoms, fever, and vomiting. The patient was initially diagnosed with meningoencephalitis and pneumonia from Streptococcus pneumoniae, and despite adequate antibiotic treatment, he subsequently developed bacterial endocarditis, requiring valve replacement. Austrian syndrome is an uncommon life-threatening condition with a high mortality rate. Its outcome depends on an early diagnosis to establish antimicrobial therapy and to define potential surgical approach in order to improve the outcome of the patient.
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High-fat diets have been identified as a major cause of obesity and a potential risk factor for breast cancer. Fat tissue, also known as adipose tissue, produces an excess of estrogen, which has been linked to an increased risk of breast cancer. Determining the impact of HFDs in the development and progression of breast cancer is essential, as it will enable us to identify the role of dietary modification in preventing and managing the disease. The impact of a high-fat diet (HFD) on the development of breast cancer in humans has yet to be fully explained, as very few human studies are available to effectively analyze the effect fatty food has on breast cancer development. This meta-analysis, therefore, seeks to determine the strength of association, if any, between HFD and an increased risk of breast cancer development. This research will help inform good eating habits, potentially reducing the disease's incidence and outcome. This meta-analysis examined eight (8) papers from various nations examining the effect of a high-fat diet as a risk factor for breast cancer development between 2010 and 2020. The study employed the multivariable-adjusted hazard ratio (H.R.), odds ratio (OR), or relative risk (R.R.) from the studies. Breast cancer cases were histologically and radiologically confirmed in the studies evaluated, and validated food frequency questionnaires were used to assess their dietary patterns. This metanalysis study found a substantial link between a high-fat diet and an increased risk of breast cancer, with statistically significant results (I2 = 93.38%, p0.05). Changes in dietary fat consumption may thus help mitigate some of the unfavorable consequences of breast cancer and survival. Even if further research is needed to support this assertion, the findings are compelling enough to advocate for low-fat, healthy diets to avoid breast cancer.
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Hypertension is the most common modifiable risk factor for cardiovascular and cerebrovascular diseases. In the last two decades, the guidelines have evolved tremendously from areas with no recommendations for screening or treatment to targeted recommendations for some at-risk groups. We sought to go through the literature that provided guidelines for the management of hypertension at any point in time over the last 22 years from 2000 to 2022. We searched four databases: PubMed, Embase, Google Scholar, and Cochrane, using specified search terms. The keywords used were "hypertension" and "guidelines." We combined them using the Boolean operators (AND, OR) and searched for articles. A total of 2461 publications were initially identified; 348 publications were excluded after screening for full-text availability. The full-text articles were further filtered based on title and abstract screening. Following this, a total of 1443 articles were excluded. The remaining 670 full-text articles were assessed for eligibility. Of the 670 full-text articles, 480 were excluded based on exclusion criteria, and following the full-text article screening, 190 articles met the final inclusion criteria. Most of these guideline evolutions concerned establishing and adjusting thresholds for the subgroups of the elderly population and patients with diabetic kidney disease, chronic kidney disease, and stroke. Furthermore, the medications of choice are now guided by the stage of disease, presence or absence of comorbidities, and other relevant information, as opposed to ethnicity, which was previously a heavy yardstick for medication choice.
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There is an epidemic of obesity in adults in rural America. It is estimated that about 19% of the population resides in rural areas, which encompasses 97% of America's total landmass. Although rural America makes up a fraction of America's total population, it has been estimated that the prevalence of obesity is approximately 6.2 times higher than in urban America. This illustrates an apparent disparity that exists between the rural population and urban populations that needs to be examined. The prevalence of obesity, especially in rural America, is a growing concern in the medical community in recent years. Obesity has been identified as a significant risk factor for cardiovascular disease, cancer, and type 2 diabetes mellitus, which are leading causes of morbidity and mortality in the US. To better understand the disparity in the prevalence of adult obesity between rural and urban America, researchers have identified risk factors that are associated with the high incidence and prevalence of obesity in the rural American adult population. Low income and lack of physical activity have been identified as factors that predispose rural Americans to increased risk of obesity, arguing that low-income Americans may not have access to the resources available to assist them in weight reduction. With rural Americans being at an income disadvantage, it creates a risk for obesity, which further predisposes them to chronic diseases such as hypertension, obstructive sleep apnea (OSA), diabetes, and coronary artery disease. As obesity continues to rise among the American population, the burden on the rural population is incredibly evident. Despite ongoing efforts by the US government and strategies implemented by the Common Community Measures for Obesity Prevention, there is still much to be done to tackle the epidemic. With an existing strategy in place, such as the 12 Common Community Measures for Obesity Prevention (COCOMO) strategies to fight obesity with physical activity, Americans are a step closer to conquering this epidemic. However, until other disparities such as income are addressed, rural Americans may continue to be severely impacted by the rising incidence of obesity and subsequent higher mortality rates from associated diseases.
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Inflammatory bowel disease (IBD) is a term that encompasses conditions characterized by chronic inflammation of the gastrointestinal tract (GIT). It includes Crohn's disease and ulcerative colitis. Major scientific organizations interested in gastrointestinal systems or GIT-focused organizations worldwide release guidelines for diagnosing, classifying, managing, and treating IBD. However, there are subtle differences among each of these guidelines. This review evaluates four evidence-based guidelines in the management of IBD and seeks to highlight the differences and similarities between them. The main differences in the evaluated guidelines were in diagnosis and treatment recommendations. The diagnosing recommendations were comparable amongst the four guidelines; however, some were more specific about limiting the number of interventions necessary to confirm a diagnosis. Regarding treatment options, each guideline had clear suggestions about what was considered ideal. Although the treatment options were identical, the main differences existed in the recommended diets and initial therapy in patients with moderate disease. Clinical practice guidelines (CPGs) recommend evidence-based practice from opinion leaders in clinical decision-making. Rather than dictating a one-size-fits-all approach in IBD management, reviewing various guidelines can enhance the cross-pollination of ideas amongst clinicians to improve decision-making. Clearly describing and appraising evidence-based reasoning for scientific recommendations remain driving factors for quality patient care. The effectiveness of CPGs in improving health and the complexities of their formation requires constant review to maximize constructive criticisms and explore possible improvements.