Acquired Robertsonian translocations are not rare events in acute leukemia and lymphoma

Robertsonian translocations are the most common constitutional structural abnormalities but are rarely reported as acquired aberrations in hematologic malignancies. The nonhomologous acrocentric rearrangements are designated as Robertsonian translocations, whereas the homologous acrocentric rearrangements are referred to as isochromosomes. Robertsonian rearrangements have the highest mutation rates of structural chromosome rearrangements based on surveys of newborns and spontaneous abortions. It would be expected that Robertsonian recombinations would be more common than suggested by the literature. A survey of the cytogenetics database from a single institution found 17 patients with acquired Robertsonian rearrangement and hematologic malignancies. This is combined with data from the literature for a total of 237 patients. All of the possible types of Robertsonian rearrangements have been reported in hematologic malignancies, with the i(13q), i(14q), and i(21q) accounting for nearly 60%. Complex karyotypic changes are seen in the majority of cases, corresponding with disease evolution. These karyotypes consistently show loss of chromosomes 5 and/or 7 in the myelocytic disorders, nonacrocentric isochromosomes, and centromeric breakage and reunion. However, nearly 25% of the acquired rearrangements were found as the sole abnormality or in addition to an established cytogenetic aberration. Most of these were the i(14q) with the myelodysplasia subtypes refractory anemia and chronic myelomonocytic leukemia.     

Rural Mexican-American Adolescent Sexual Risk Behavior

CONTEXT: There is a need for community-based, culturally sensitive, cognitive-behavioral interventions to reduce sexual risk behavior among minority adolescents. Studies of adolescent risk and protective behaviors have focused on identifying modifiable psychosocial variables that predict differential outcomes for subsequent intervention efforts. Research has been scarce in studies of rural minority adolescent women. PURPOSE: To examine the protective and risk behaviors of these rural Mexican-American adolescent women and their relationship to physical or sexual abuse. METHODS: Mexican-American adolescent women aged 14-19 years were recruited through a rural health clinic and administered a self-report assessment for protective and risk behavior and sexual, physical, and psychological abuse. FINDINGS: Rural minority adolescent women endured high levels of psychological distress and many risk behaviors yet experienced few protective behaviors. Barriers to health care included access and confidentiality. Physically or sexually abused adolescents endured relatively greater risk and fewer protective behaviors than nonabused. CONCLUSIONS: Rural Mexican-American adolescent women may benefit from confidential identification and assessment of abuse history and risk and protective behaviors so that appropriate psychological treatment can accompany accessible medical treatment. The prevalence of risk behaviors and abuse among these women presents a need for development of behavioral interventions for risk reduction and promotion of health protective behaviors.     

RURAL WOMAN ABUSE AND SEXUALLY TRANSMITTED DISEASE: AN ETHICAL ANALYSIS OF CLINICAL DILEMMAS

Women who have experienced abuse are often offered individual and group psychotherapeutic interventions to help them overcome psychological aftereffects of abuse and avoid future abusive relationships. Clinical cases that are complicated by the existence of abuse and sexually transmitted diseases (STDs) often involve ethical issues concerning patient privacy and legitimate breaches of confidentiality that can potentially harm the individual. There is little known about the experiences of abused rural women with STDs, underscoring the need for modification of existing interventions for this patient population. This paper presents the application of an ethical framework to an actual case involving an abused rural woman with an STD that utilizes the concepts of casuistry, or case-based reasoning. A methodological tool for ethical analysis of the clinical dilemmas involving evidence-based psychotherapeutic interventions for abused rural women with STDs is used to apply the concepts of casuistry to the development of the taxonomy of cases for clinical practice.     

Acceptability of a Dapivirine/Placebo Gel Administered Rectally to HIV-1 Seronegative Adults (MTN-026)

AIDS and Behavior - This study describes the acceptability of a rectal microbicide gel formulation using dapivirine (DPV) among men and women from two countries (United States and Thailand)...     

Bacteremia, fever, and splenomegaly caused by a newly recognized bartonella species

Bartonella species cause serious human infections globally, including bacillary angiomatosis, Oroya fever, trench fever, and endocarditis. We describe a patient who had fever and splenomegaly after traveling to Peru and also had bacteremia from an organism that resembled Bartonella bacilliformis, the causative agent of Oroya fever, which is endemic to Peru. However, genetic analyses revealed that this fastidious bacterium represented a previously uncultured and unnamed bartonella species, closely related to B. clarridgeiae and more distantly related to B. bacilliformis. We characterized this isolate, including its ability to cause fever and sustained bacteremia in a rhesus macaque. The route of infection and burden of human disease associated with this newly described pathogen are currently unknown.     

Real-World Treatment Patterns and Clinical Effectiveness of Palbociclib Plus an Aromatase Inhibitor as First-Line Therapy in Advanced/Metastatic Breast Cancer: Analysis from the US Syapse Learning Health Network

This retrospective single-arm study assessed real-world treatment patterns and clinical outcomes in patients with hormone receptor—positive/human epidermal growth factor receptor 2—negative (HR+/HER2−) advanced/metastatic breast cancer (A/MBC) who received palbociclib plus an aromatase inhibitor as first-line therapy in US community health systems. Using electronic health records from the Syapse Learning Health Network, 242 patients were identified as having received first-line palbociclib plus an aromatase inhibitor between 3 February 2015, and 31 July 2019 (data cutoff 1 February 2020) resulting in a minimum potential 6-month follow-up period. In total, 56.6% of patients had de novo A/MBC at initial breast cancer diagnosis, 50.8% had bone-only disease, and 32.2% had visceral disease. Median follow-up was 22.4 months. Disease progression (26.4%) and intolerance/toxicity (14.9%) were the main reasons for treatment discontinuation. The median (95% CI) real-world progression-free survival was 31.7 (27.9—not estimable (NE)) months and 2-year estimated overall survival (OS) rate was 78.0%. In total, 25.6% of patients died; however, OS data are limited by the small population size and insufficient follow-up time. These real-world effectiveness outcomes complement findings from other real-world studies and randomized controlled trials and support palbociclib plus an aromatase inhibitor as first-line therapy for HR+/HER2− A/MBC.     

Germline mutations predisposing to melanoma

Nearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1, MITF, MC1R, and BAP1. Additionally, melanoma risk is increased in mixed cancer syndromes caused by mutations in PTEN, BRCA2, BRCA1, RB1, and TP53. While early onset, multiple tumors, and family cancer history remain the most valuable clinical clues for hereditary melanoma, characteristic epithelioid cytology of melanocytic tumors may suggest an underlying BAP1 mutation. Herein, we review the clinical and histopathologic characteristics of melanocytic tumors associated with these germline mutations and discuss the role of genetic counseling.