In the United States, Black people experience multiple myeloma (MM) at a frequency that is more than double that of White people and experience much higher rates of mortality. Despite bearing a disproportionate impact of both MM incidence and mortality, Black patients are significantly underrepresented in most MM clinical trials. This is in part because Black patients experience a higher prevalence of hemoglobinopathies and Duffy-null phenotype, which affect hemoglobin and neutrophil levels, respectively, potentially excluding patients from clinical trials.
View Article and Find Full Text PDFPregnancy is a prothrombotic state due to an estrogen-driven shift in the coagulation system, increased venous stasis, and external restriction of blood flow caused by the gravid uterus. Venous thromboembolism (VTE) is a leading cause of morbidity and mortality in pregnancy. Preventing, recognizing, and treating thrombosis in pregnancy, as well as the postpartum period, often challenges decision making in the clinical setting.
View Article and Find Full Text PDFImportance: Absolute neutrophil counts (ANCs) are used to determine cancer clinical trial (CCT) eligibility and systemic anticancer therapy (SACT) dose modifications. Duffy null-associated ANC (DANC) is a nonpathologic phenotype associated with lower ANC and most frequently seen in individuals with African and Middle Eastern ancestry. It is unclear whether CCTs exclude or SACT regimens modify doses for individuals with ANC within the DANC reference range.
View Article and Find Full Text PDFFebrile neutropenia is a common complication of conditioning chemotherapy for hematopoietic stem cell transplant (HSCT), but a major barrier for optimal treatment of febrile neutropenia is historical penicillin allergies. Our group recently published a development of a clinical pipeline for delabeling penicillin allergies in adult patients planned to undergo hematopoietic stem cell transplant (HSCT). In this retrospective cohort study, we followed patients to evaluate their outcomes during inpatient admission for HSCT.
View Article and Find Full Text PDFBackground: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease in children and young adults. The most severe form of steroid-resistant nephrotic syndrome is congenital nephrotic syndrome Finnish type (CNSF), caused by biallelic loss-of-function variants in NPHS1, encoding nephrin. Since each of the 68 monogenic causes of steroid-resistant nephrotic syndrome represents a rare cause of the disease, tailoring therapeutic interventions to multiple molecular targets remains challenging, suggesting gene replacement therapy (GRT) as a viable alternative.
View Article and Find Full Text PDFSteroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish type (CNF) (MIM# 256300) is caused by biallelic variants in the gene NPHS1, encoding nephrin, an integral component of the kidney filtration barrier. No causal treatments exist, and children inevitably require kidney replacement therapy.
View Article and Find Full Text PDFSustainability has become indispensable - and so has the role chemistry plays in reaching the Sustainable Development Goals (SDGs). The Swiss Academy of Sciences (SCNAT) and its Platform Chemistry (PFC) can be a partner of the Swiss chemistry community in reaching (some of) these goals through their umbrella network. Next to all existing initiatives, SCNAT PFC recommends the chemistry community to support increasing scientific literacy such that for example students who want to contribute to a better environment in their future career become aware of the impact that chemistry has on sustainability and every day lives.
View Article and Find Full Text PDFAims: To explore the effects of prices and flavour availability on the appeal of different tobacco and nicotine products, including conventional cigarettes, Electronic Nicotine Delivery Systems (ENDS) and Heated Tobacco Systems (HTS) among an adult population in Switzerland.
Methods: We performed a Discrete Choice Experiment among a group of Swiss aged ≥18 years via the online recruiting platform Prolific in a convenience sample. Our sample included both non-smokers and smokers.
In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants in , encoding nitric oxide synthase 1 (NOS1) adaptor protein, cause monogenic nephrotic syndrome (NS). Here, we determined that an intergenic splice product of N / and neighboring , which precludes NOS1 binding, is the predominant isoform in mammalian kidney transcriptional and proteomic data.
View Article and Find Full Text PDFAm J Physiol Renal Physiol
May 2024
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in can cause congenital nephrotic syndrome of the Finnish type, for which, to date, no causative therapy is available.
View Article and Find Full Text PDFProblem: Approximately 100,000 individuals in the United States have sickle cell disease (SCD). These individuals face multiple barriers to equitable care. At Brigham and Women's Hospital, existing health inequities for these patients were compounded by admitting, rounding, and team structures that assigned patients with SCD to multiple medicine teams with a hematologist attending, leading to delays in patient care and gaps in residents' hematology knowledge.
View Article and Find Full Text PDFThrombosis in patients with coronavirus disease 2019 (Covid-19) is driven by complex interactions between immune, complement, fibrinolytic, endothelial, and coagulation systems. In addition to venous thromboembolism (VTE), microthrombi have also been implicated in contributing to end-organ damage, such as acute respiratory distress syndrome and kidney dysfunction, as well as to overall mortality. As available therapies, variants, and vaccines have evolved, so have reported rates of VTE attributable to Covid-19.
View Article and Find Full Text PDFPenicillin allergy is reported by 10% to 20 % of patients, but when evaluated only 1% to 2% may have a true allergy. Patients undergoing hematopoietic stem cell transplantation (HSCT) have a high likelihood of requiring beta-lactam antibiotics due to increased infection risk, which can be limited by a penicillin allergy label. When a penicillin allergy is recorded, alternatives are needed, including more expensive broader-spectrum antibiotics, with increases in drug-resistant bacteria, longer hospital stays, higher expenditures, and increases in nosocomial infections, such as Clostridium difficile colitis.
View Article and Find Full Text PDFDiffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma, and extranodal involvement is seen in approximately 40% of cases. However, cases involving the skin and muscle are rare, and skin manifestations most commonly present as plaques, papules, small nodules, or ulcers. In this report, we discuss a case of a large exophytic mass involving skin, soft tissue, and muscle initially thought to be baso-squamous carcinoma subsequently identified as DLBCL and treated solely with chemotherapy.
View Article and Find Full Text PDFImmunooncol Technol
December 2023
The Association for Cancer Immunotherapy (CIMT) celebrated the 20th anniversary of the CIMT Annual Meeting. CIMT2023 was held 3-5 May 2023 in Mainz, Germany. 1051 academic and clinical professionals from over 30 countries attended the meeting and discussed the latest advances in cancer immunology and immunotherapy research.
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