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ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations
No full textCold atmospheric plasma effectively kills chordoma cells through induction of intracellular reactive oxygen species
No full textRecent Advances in Succinate Dehydrogenase Deficient Gastrointestinal Stromal Tumor Systemic Therapies.
No full textGastrointestinal stromal tumors (GIST) are the most common gastrointestinal soft tissue sarcomas, with an incidence of about 15 cases per million person-years. Approximately 15% of GIST develop due to succinate dehydrogenase deficiency (SDH-Def), and such tumors do not respond well to the tyrosine kinase inhibitors (TKIs) used to treat other GIST. Due to its indolent nature SDH-Def GIST can often be surveilled if asymptomatic. In our current practice we typically treat advanced symptomatic SDH-Def GIST with the anti-angiogenic TKIs, sequentially treating with sunitinib, regorafenib and pazopanib. This practice is based on limited data. This systematic review provides an update on new data (12/21/2021 to 9/26/2024) for systemic treatment of SDH-Def GIST, both with agents generally used to treat other GIST subtypes and with agents approved in other malignancies. Olverembatinib and rogaratinib have shown promising activity in pre-clinical models and small SDH-Def GIST cohorts. Other agents whose benefits are explored here include the immune checkpoint inhibitors (ICI) ipilimumab and nivolumab and temozolomide, whether as monotherapy or in combination with INBRX-109 (a pro-apoptotic antibody) or olaparib. Additional research into TKI agents with anti-vascular endothelial growth factor receptor (VEGFR) and anti-fibroblast growth factor receptor (FGFR) activity in this clinical setting is needed. Patients with SDH-Def will benefit more broadly from ongoing explorations of treatments with alternative mechanisms of action, especially those that exploit cellular pathways involved in SDH-Def GIST tumorigenesis
Radiographic Comparison of Forearm Symmetry in Healthy Individuals and Its Importance in the Diagnosis of Longitudinal Radioulnar Dissociation.
No full textPURPOSE: Longitudinal radioulnar dissociation (LRD) is an injury often missed upon initial presentation. A recent study examined a radiographic screening test in cadavers that showed increased interosseous distance when the interosseous ligament (IOL) was divided. For this test to be clinically useful, it is necessary for uninjured forearms to have similar interosseous spaces. The purpose of this study was to determine the typical differences between right and left interosseous spaces of healthy individuals.
METHODS: Anterior-posterior x-rays of bilateral forearms in maximum supination of 28 surgical residents with no history of injury were obtained. These images were uploaded into a picture archiving and communication system and then digitized. The length of the radius was measured (X
RESULTS: The outlier analysis revealed two sets of forearm x-rays were rotationally different compared to the rest of the group due to asymmetric arm positioning; these data were excluded from the analysis. The average difference in D
CONCLUSIONS: There does not appear to be any significant difference between the maximum interosseous distance of right and left arms in healthy individuals. Therefore, analyzing bilateral forearm x-rays may be a simple LRD screening test.
CLINICAL RELEVANCE: Understanding the degree of normal variation in the forearm bone spacing might inform evaluation of abnormal forearm bone alignment resulting from LRD
Hospital charge and resource use analysis of extended-spectrum penicillin antibiotic therapy after pancreatoduodenectomy in intermediate- and high-risk patients.
No full textBACKGROUND: We previously reported that an extended antibiotic mitigation pathway following pancreatoduodenectomy in patients with intermediate-/high-risk glands is associated with 83 % lower odds of clinically relevant postoperative pancreatic fistula (CR-POPF). We now describe associations between the pathway, resource utilization, and hospital charges.
METHODS: We performed a retrospective cohort study of patients who underwent elective pancreatoduodenectomy with soft gland texture and fistula risk score (FRS) ≥3 who received standard or extended antibiotics. Hospital charges and resource utilization within 90 days of surgery were compared by CR-POPF status and antibiotic pathway.
RESULTS: A total of 34 patients received extended antibiotics and 53 received standard antibiotics. In patients with CR-POPF, patients who received extended antibiotics had lower likelihood of surgical or percutaneous reintervention (75.0 % vs. 100.0 %, p = 0.022). Ninety-day postoperative charges associated with CR-POPF were higher than no CR-POPF (25,631, p = 0.028). Our risk-based model predicted a $15,825 decrease in hospital charges per patient receiving extended antibiotics.
CONCLUSIONS: CR-POPF is associated with higher 90-day hospital charges. Extended antibiotic therapy following pancreatoduodenectomy in patients with soft gland texture and FRS ≥3 is associated with fewer reinterventions in patients who develop CR-POPF. These outcomes will be formally tested in a randomized controlled trial (NCT05753735)
Infertility and risk of ovarian cancer in the women\u27s health initiative.
No full textPURPOSE: There is a consistent relationship with greater ovulation frequency and increased risk of ovarian cancer. However, prior research on infertility, which may be associated with ovulation frequency through multiple mechanisms, and ovarian cancer has yielded conflicting results, possibly due to prior research conflating fertility treatment with infertility and restricting follow-up to premenopausal cases. Our objective was to determine the association between infertility and risk of postmenopausal ovarian cancer, overall and by histotype, in a population that had not received treatment with IVF.
METHODS: We utilized data from the Women\u27s Health Initiative (n = 112,925 postmenopausal participants) with over 25 years of follow-up. At baseline, participants were asked whether they had ever tried to become pregnant for more than one year without becoming pregnant and whether a reason was found. Cox proportional hazards models were used to calculate hazard ratios (HRs) of incident adjudicated ovarian cancer comparing participants with a history of infertility to fertile participants overall and by histotype.
RESULTS: 17% of participants reported a history of infertility at baseline and 1,109 ovarian cancer cases were diagnosed during follow-up. No statistically significant association was observed between infertility and risk of any ovarian cancer (HR: 1.09, 95% CI 0.92-1.29), but those reporting infertility had a 90% higher risk of endometrioid and clear cell ovarian cancers (HR: 1.90 95% CI 1.09-3.34) compared to fertile participants. The reported reason(s) for infertility had no discernable impact on these associations.
CONCLUSIONS: Infertility may be associated with clear cell and endometrioid ovarian cancer but not other ovarian tumor histotypes
Mediation analysis identifies causal factors that lead to increased rates of kidney transplant failure in patients with peripheral vascular disease.
No full textBACKGROUND: This study aims to identify causal mediators of one-year kidney transplant failure in patients with peripheral vascular disease.
METHODS: Standard Transplant Analysis and Research database was queried for adults who underwent kidney transplantation from 1987 to 2021. Multi-organ transplant, prior transplant, and living donor kidneys were excluded. Causal mediation analysis with 2000 percentile bootstrapping interactions identified mediators of one-year kidney transplant failure.
RESULTS: 212,259 patients were included: 16,215 with and 196,044 without peripheral vascular disease. Causal mediators of one-year kidney transplant failure are Kidney Donor Profile Index (proportionate mediation [PM] 17 %, p \u3c 0.01, E-value = 1.20), pre-transplant dialysis (PM 19 %, p \u3c 0.001, E-value = 1.17), recipient total serum albumin (PM 2 %, p = 0.003, E-value = 1.05), and donor hypertension (PM 1 %, p = 0.017, E-value = 1.04).
CONCLUSIONS: Several causal mediators increase rates of one-year kidney transplant failure in patients with peripheral vascular disease. Understanding these mediators can improve pre-transplant assessments and post-transplant outcomes
Nursing knowledge in cardio-oncology: results of an international learning needs-assessment survey.
No full textBACKGROUND: With early detection and improvements in systemic and local therapies, millions of people are surviving cancer, but for some at a high cost. In some cancer types, cardiovascular disease now competes with recurrent cancer as the cause of death. Traditional care models, in which the cardiologist or oncologist assess patients individually, do not address complex cancer and cardiovascular needs. Nursing disciplines should be an integral part of holistic assessment in cardio-oncology care. To learn what educational needs nurses perceive important for provision of competent cardio-oncology nursing care, we undertook an international survey, aiming to understand their learning needs and preferred learning modalities.
METHODS: A cross-sectional survey was developed by members of the International Cardio-Oncology Society (IC-OS) Nursing Research group. The survey was in English and consisted of 23 questions which include demographic information, clinical specialty (oncology, cardiology, or cardio-oncology), multiple-choice questions related to clinical topics that nurses might be interested in learning, and preferred methods of instruction.
RESULTS: Three hundred and twenty-nine responses were received. The majority expressed interest in learning more about cardio-oncology related topics, primarily via pre-recorded webinars (n = 206, 67%) and live virtual meetings (n = 192, 63%). Formal programs leading to certification were highly endorsed (n = 247, 80%). In relation to specific cardio-oncology topics, there was a strong interest in learning more about specific cardiovascular toxicities, and their monitoring and management (n = 205, 66%).
CONCLUSION: Cardio-oncology is a new field of expertise requiring competent nurses with current knowledge incorporating both specialties. The survey we conducted described the sample\u27s characteristics, identified cardio-oncology learning needs and preferred methods of delivery. A cardio-oncology core curriculum based on the survey responses can offer convenient, accessible and learner-directed education for nurses worldwide. Ultimately, development of cardio-oncology nursing expertise will benefit cancer patients and survivors worldwide