Jacobs Institute of Women's Health
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Minimally invasive transorbital approach for anterior communicating artery aneurysms: How I do it
No full textBACKGROUND: The transorbital approach through the roof of the orbit can be utilized safely for the clip obliteration of ACOM aneurysms. METHOD: We demonstrate the technique and describe the limited indications for its application. The operation proceeds by strictly following the anatomic dissection of the optic nerve, A1 segment of the ACA and then dissection and clipping of the aneurysm. CONCLUSION: For the properly chosen patient and aneurysm, the transorbital approach has an excellent cosmetic outcome and can safely eliminate the aneurysm with great patient satisfaction
Antithrombotic therapy for secondary stroke prevention in patients with cancer: a systematic review and network meta-analysis
No full textBACKGROUND: The risk of stroke among patients with cancer is two times that of the general population due to a combination of cancer-, chemotherapy-, radiotherapy-, and surgery-related factors. There is a paucity of data regarding the optimal antithrombotic therapy for secondary stroke prevention in these patients. OBJECTIVES: Our goal was to review the stroke recurrence in patients treated with different antithrombotic therapies (antiplatelets, warfarin, heparin, and direct oral anticoagulants). Our secondary objective was to review the bleeding risk across different antithrombotic therapies. METHODS: A review of the literature was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Articles that adequately assessed secondary prevention of stroke in patients with cancer were selected from the PubMed, Embase, and Scopus databases from inception until March 2, 2025. We performed a network meta-analysis for stroke recurrence, major bleeding, and mortality. The treatments were ranked by P-SCORE. Subgroup analyses were conducted based on median D-dimer levels, multiple territories of stroke, and exclusion of studies with high risk of bias. RESULTS: We included 11 studies (four RCTs, six retrospective studies, and one case series) with a total of 1319 patients. In the primary analysis, antiplatelets were the highest-ranked treatment for reducing stroke recurrence (RR 0.44 [0.20; 0.96]), followed by LMWH (RR 0.50 [0.26; 0.96]), both significantly superior to no treatment. However, LMWH consistently ranked higher than antiplatelets in all subgroup analyses. There was no difference regarding major bleeding or mortality. CONCLUSION: Antiplatelets can be considered an option for secondary prevention of stroke in patients with cancer, especially in patients with a higher bleeding risk. Future research with high-quality studies is needed to confirm our preliminary findings and should focus on identifying subgroups of patients with cancer who may benefit most from specific antithrombotic therapies
A National Survey on the Neurogenetics Workforce: Practice Models, Evolving Challenges, and Future Directions
No full textBACKGROUND: Neurogeneticists are specialized providers who focus on diagnosing and managing genetic disorders affecting the nervous system. Training pathways for neurogeneticists vary, including dual residencies in neurology and genetics, one-year fellowships, or extensive clinical experience. This diversity reflects the expanding applications of neurogenomics across neurology. Our research aims to identify strategies used by such subspecialists to help neurologists more effectively incorporate genetic testing into practice, improving patient outcomes. METHODS: A survey was conducted among neurogeneticists across the United States to assess the practice parameters of neurogenetic clinics, assess program development, and highlight the educational requirements needed to manage these patient populations. The survey, approved by the Children\u27s National Hospital Institutional Review Board, included 25 questions about demographics, practice settings, training, and education. Data were collected anonymously through REDCap, and participants were recruited via professional networks. RESULTS: We received 30 responses, where 93.3% were from academic institutions and 86.2% engaged in research. Most order and interpret genetic testing and manage a range of phenotypes, including epilepsy, movement disorders, and neuromuscular diseases. Ninety percent of respondents use precision therapies, and 50% participate in clinical trials. CONCLUSIONS: The survey underscores the demand for neurogenetics expertise in both diagnostic and therapeutic contexts. The study highlighted barriers such as limited staffing, training for a larger workforce capacity, and infrastructure challenges in integrating genetic testing into routine clinical practice. We summarize the factors that can promote the establishment and growth of neurogenetics programs. The integration of genetic counselors in clinics and genetics-focused education in neurology residencies are crucial for advancing equitable access to care
Eligibility Assistance Increases Insurance Enrollment Within Community Health Centers But Not At The State Level
No full textAlthough ample evidence exists that community health centers lower federal medical expenditures, it has been hypothesized that the eligibility assistance offered by staff at health centers could also increase insurance enrollment and federal costs. We analyzed the effects of eligibility assistance on insurance enrollment at both the health center and state levels. Using multivariate panel analysis with two-way fixed effects, we examined effects of eligibility assistance during the period 2016-23 to determine how insurance enrollment is affected at the health center and state levels. Data sources were administrative data from health centers and state-level enrollment data from Medicaid, the Children\u27s Health Insurance Program (CHIP), and health insurance Marketplaces. Higher levels of eligibility assistance staffing are associated with modest increases in numbers of Medicaid and CHIP enrollees at health centers and modest reductions in numbers of uninsured patients. However, neither eligibility assistance nor overall health center size significantly affect state-level enrollment for any of the programs. Eligibility assistance modestly increases insurance coverage among health center patients, which improves health centers\u27 financial status and patient care capacity. But this assistance does not significantly increase overall Medicaid, CHIP, or Marketplace enrollment, nor does it raise federal expenditures
Understanding Burnout in the U.S. Maternal and Child Health Professionals: A Mixed-Methods Comparison of Rural and Urban Contexts
Get PDFImpact of a Workflow Innovation Using Blood Conservation Strategies to Reduce Hospital Acquired Anemia: A Quality Improvement Project
No full textBackground: Critically ill patients subject to frequent routine phlebotomy are at increased risk of developing hospital-acquired anemia. Blood conservation strategies effectively prevent this complication and are within a nurse’s scope of practice.
Aims/Objectives: The purpose of this project was to increase nurses’ knowledge about hospital- acquired anemia and blood conservation strategies, increase self-efficacy in implementing evidence-based nursing practice, and implement a workflow for routine phlebotomy for smaller volume blood sampling, promoting blood conservation in critically ill patients and improve quality of patient care.
Methods: Pre-test/post-test design evaluated nurses’ knowledge of blood conservation content and confidence in implementation of evidence-based practice. The proposed workflow was implemented over four Plan-Do-Study-Act cycles following training. Participants provided feedback, and blood samples were monitored for rejection due to inadequate sample volume. Requests for transfusions were tallied as well.
Results: Participants reported overall satisfaction with the workflow, increased knowledge, and increased self-efficacy while implementing evidence-based practice. Requests for blood for transfusion increased, but no samples were rejected for inadequate sample volume. Knowledge of blood conservation strategies for participants with 11+ years’ experience resulted in 68% mastery on pretest and 100% on posttest. All participants with six to ten years’ experience reported using the workflow.
Conclusions: Implementation of this workflow did not disrupt lab processing. Training provided for participants increased knowledge about hospital-acquired anemia, blood conservation strategies, and perceived self-efficacy in implementing evidence-based nursing practice.
Implications for Practice: This proposed workflow should be considered for implementation on nursing units where serial phlebotomy is required for patient care
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
No full textTrifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism. Both siblings were also diagnosed with focal segmental glomerulosclerosis (FSGS) and bone marrow failure and ultimately died of hypoxemic respiratory failure. Initial sequencing of the TFP-associated genes HADHA and HADHB showed only a paternally inherited variant in HADHB, NM_000183.3:c.1059del (p.Gly354AspfsTer10). Subsequent evaluation by the Undiagnosed Diseases Network with genome and transcriptome sequencing revealed a rare maternally inherited 17 base pair deletion in HADHB, NM_000183.3:c.1390-515_1390-499del, located in the final intron and resulting in a pseudoexon that harbors a premature termination codon. Both sisters were compound heterozygous for this and the paternal premature termination codon. No other variants were detected that were potentially causative for the FSGS and bone marrow failure on genome sequencing. A review of the literature at that time revealed several case reports of the uncommon clinical findings of FSGS, bone marrow failure, and pulmonary involvement in patients with TFP, confirming this clinical diagnosis as the complete explanation for these siblings
Hallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers
No full textApproximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients. In parallel, the generation of new renal-tumour models of some of these pathologies including cell lines, organoids, xenografts and genetically engineered mouse models improved our understanding of the development of these tumours and have facilitated the identification of new therapeutic targets. Despite these many achievements, paediatric and adolescent/young adult patients continue to die from such rare cancers at higher rates than patients with Wilms tumour. Thus, international coordinated efforts are needed to answer unresolved questions and improve outcomes
Pre-induction and post-discharge venous thromboembolism chemoprophylaxis should be considered in patients after major vascular open abdominal procedures
No full textBACKGROUND: Venous thromboembolism (VTE) is a significant morbidity following major open abdominal surgery. While there are clear recommendations for perioperative and post-discharge VTE chemoprophylaxis in general surgery, guidance for vascular patients is unclear. We compared the incidence of VTE in vascular versus general surgery cases and then investigated the timing of VTE in vascular patients. METHODS: Two cohorts of major open abdominal surgery, vascular (open abdominal aortic aneurysm and aortoiliac reconstruction) and general, were compared in ACS-NSQIP database. There were significant preoperative differences between cohorts that were corrected using 1:1 propensity matching and logistic regression. Thirty-day outcomes included incidence and timing of VTE (in-hospital and post-discharge), mortality, and major morbidities. RESULTS: After propensity matching, there were 14,983 and 15,075 patients had vascular and general surgery, respectively. VTE rate was significantly lower in vascular. The distribution of in-hospital and post-discharge VTE was similar in both groups. Over the last 10 years, the overall incidence of VTE has decreased for both general and vascular surgery, with a corresponding decrease in in-hospital VTE but no change in post-discharge VTE. VTE occurrence showed a bimodal distribution with 76.92% of VTE occurring in early period (\u3c14 days) and 23.08% occurring in late period (\u3e14 days), which coincided with in-hospital (77.91%) and post-discharge (22.09%), respectively. CONCLUSION: Although VTE incidence after vascular procedures has decreased, in-hospital VTE may be further reduced if pre-induction subcutaneous heparin is given. Furthermore, 22% VTE developed post-discharge in vascular patients, which suggests post-discharge VTE prophylaxis should be considered in selected high-risk patients
Efficacy, Safety and Retention in Care Among Adolescents and Youth With HIV on Long-Acting Injectable Cabotegravir/Rilpivirine Treatment: Real-World Observational Cohort Outcomes
No full textBACKGROUND: Long-acting injectable (LAI) cabotegravir/rilpivirine (CAB/RPV) can improve adherence among adolescents and youth with HIV (AYHIV). We evaluated LAI CAB/RPV treatment outcomes among AYHIV. METHODS: An observational cohort study of AYHIV \u3c25 years initiated LAI CAB/RPV from October 2021 to June 2024 as a standard of care. Descriptive data included demographics (age, race/ethnicity and gender/sexual orientation), body mass index, HIV history, efficacy (CD4, HIV RNA and resistance), safety and retention in care. RESULTS: Twenty-five AYHIV (48% cisgender females; median age, 19 years; 64% with perinatally acquired HIV; median body mass index = 25.3 kg/m2; 52% virally suppressed for ≥6 months) received LAI CAB/RPV for a median duration of 11.8 (range, 0.8-31.3) months. Majority (n=24; 96%) initiated monthly LAI CAB/RPV injections, and 19 AYHIV (76%) switched to bimonthly injections. Seven AYHIV (28%) experienced transient viremia episodes (1-5/person; ranges, 48-1100 copies/mL) with most (78%) occurring within the initial 12 months, all episodes resolved at retesting after 3 to 91 days and none resulted in CAB and/or RPV resistance. Injection-associated pain/discomfort was mild to moderate and decreased over time. Grade 2 adverse events were self-resolved and included 3 AYHIV with postinjection adverse reactions and 1 AYHIV with QTc prolongation. Three cisgender female AYHIV became pregnant and continued LAI CAB/RPV. There were no discontinuations, missed or delayed injections. All AYHIV were virally suppressed at the end of the study follow-up. CONCLUSIONS: We report 100% engagement in care and viral suppression among 25 AYHIV on LAI CAB/RPV during study follow-up. More data are needed to evaluate the long-term outcomes and sustainability of LAI CAB/RPV treatment in AYHIV