Jacobs Institute of Women's Health
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GREGoR: accelerating genomics for rare diseases
No full textRare diseases are collectively common, affecting approximately 1 in 20 individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in next-generation sequencing, development of new computational and functional genomics approaches to prioritize genes and variants and increased global sharing of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Furthermore, all data generated, currently representing over 7,500 individuals from over 3,000 families, are rapidly made available to researchers worldwide through the Analysis, Visualization and Informatics Lab-space (AnVIL) to catalyse global efforts to develop approaches for genetic diagnoses in rare diseases. Most of these families have undergone previous clinical genetic testing but remained unsolved, with most being exome-negative. Here we describe the collaborative research framework, datasets and discoveries comprising GREGoR that will provide foundational resources and substrates for the future of rare disease genomics
ACR Appropriateness Criteria® First Trimester Vaginal Bleeding: 2025 Update
No full textVaginal bleeding is a relatively common occurrence in the first trimester of pregnancy, but can be distressing for both patients and clinicians. Differential considerations include normal intrauterine pregnancy (IUP), a nonviable IUP, an ectopic pregnancy (EP), or much less commonly gestational trophoblastic disease (GTD). Although the diagnosis of EP, nonviable IUP, and GTD is important, it is also crucial to avoid harming potentially normal pregnancies through early medical or surgical treatment. Fortunately, most diagnoses can be made using a combination of ultrasound (US), serum human chorionic gonadotropin levels, and physical examination. When a diagnosis is in question, serial examinations and close clinical evaluation is paramount. Occasionally, MRI of the pelvis without contrast may be helpful in problem-solving for challenging cases, where grayscale US is limited or when there is high concern for nontubal EP. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation
Program Outcomes from a Novel Outreach Network to Increase Breast Cancer Screening Uptake in Washington, DC
No full textAfter the COVID-19 pandemic, racial and ethnic minority groups experienced disproportionate delays in returning to breast cancer. The GW Cancer Center\u27s Community Outreach and Engagement team developed a novel Neighborhood Health Ambassador (NHA) network to increase knowledge and access to breast cancer screening in the Washington, DC metropolitan region. First, we recruited NHAs to complete a paid 100-h Community Health Worker (CHW) training and 44-h practicum. We coached NHAs to conduct community outreach and breast cancer screening education in their neighborhoods. Second, we partnered with two community-based organizations to arrange direct screenings for Hispanic/Latina and African immigrant women. Twenty-six NHAs completed the CHW Curriculum. Nineteen NHAs completed the practicum. NHAs reached 2,189 direct beneficiaries at 108 events over a year. GW Cancer Center staff navigated 21 women to mammograms. Out-of-pocket costs were paid to allow an additional 102 uninsured women to obtain mammograms. This project piloted a community-based network to strengthen breast cancer screening in the GW Cancer Center catchment area. Creating a grassroots network of community health workers is feasible and impactful, but time-intensive. Directly partnering with longstanding community partners yielded faster screening uptake among priority groups for breast cancer screening
The Role of Pediatric Psychologists in the Pre-Transplant Evaluation: A Practice Survey
No full textBACKGROUND: The psychology pre-transplant evaluation is an integral component of the pediatric transplant process and serves to identify both risk and resilience factors that may contribute to peri- and posttransplant outcomes. Despite guidelines with general considerations, the pediatric pre-transplant psychological evaluation is not standardized. This study presents results from a practice survey of pediatric transplant psychologists to inform the standard of care. METHODS: A workgroup of members of the Society for Pediatric Psychology Solid Organ Transplant Special Interest Group designed a survey assessing pre-transplant psychological evaluation practices. A total of 88 psychologists were identified and asked to complete the survey. Descriptive statistics were used to summarize survey results. RESULTS: Forty-seven psychologists representing 38 medical centers provided complete responses. Respondents represented multiple solid organ groups: 70% kidney, 68% heart, 47% liver, 19% lung and multi-visceral respectively, 13% intestinal, and 9% pancreas. Psychology is routinely involved in evaluations, though psychology evaluation practices are impacted by various barriers (e.g., time, insurance) and patient characteristics (e.g., medical acuity, age). The most commonly assessed domains were developmental history, allocation of treatment responsibility, social history, patient psychiatric history, motivation for transplant, understanding of transplant, treatment adherence, and medical coping. Although domains assessed were largely consistent among respondents and represented important risk and resilience domains, there was reported variability in the role of psychology on selection committees and listing decision-making. CONCLUSIONS: Despite a lack of standardization of the pre-transplant psychological evaluation, areas of consistency exist. However, variability in practice among pediatric solid organ transplant centers remains, necessitating the development of a common foundation for the pre-transplant psychological evaluation. Results also emphasize the importance of psychology\u27s role within pediatric transplant teams
Training, values, and youth outcomes in adolescent and youth engagement in research - Authors\u27 reply
No full textHome Use of Nonpharmacologic Interventions For Fracture Pain After Pediatric Emergency Department Discharge
No full textBACKGROUND: Nonpharmacologic (physical and psychological) interventions are recommended for the treatment of acute pain after pediatric emergency department (PED) discharge. Frequency of use and relation to analgesia and patient characteristics have not been well described. OBJECTIVES: We aimed to determine the types and duration of nonpharmacologic interventions, describe their relationship with analgesic use, and identify clinically relevant associated variables. METHODS: This was a secondary analysis of a multi-site prospective observational cohort study of children aged 4-17 years discharged from 7 PEDs July 2019 through September 2021 with an isolated long bone fracture. Parents/guardians reported nonpharmacologic interventions and analgesic use via daily text messaging. RESULTS: 1,819 children were included. During the first week after PED discharge, 96% used nonpharmacologic interventions at least 1 day, with distraction and elevation being the most frequently and consistently used. Only 3% reported using analgesia alone during the first week, while the proportion using only nonpharmacologic interventions tripled from 9% to 27%. Children aged 11-13 years had increased likelihood of nonpharmacologic use compared to those aged 4-7 years (OR 3.7 95% CI [1.4, 9.8]). Children with moderate to severe pain at discharge were also more likely to use nonpharmacologic interventions (OR 2.1 [95% CI 1.1, 3.9]). CONCLUSIONS: Children with long bone fractures used nonpharmacologic interventions more frequently and for a longer duration than analgesic medications. Increasing age and pain severity at discharge were associated with greater use. Interventional studies are needed to provide evidence-informed recommendations for these interventions after PED discharge
Genetics Genomics Competency Crosswalk Development for Undergraduate Prelicensure Nursing Education Programs
No full textBACKGROUND: Precision health is emerging as standard of care in acute and ambulatory settings. Foundational education of genetic and genomic content is needed in prelicensure nursing curriculum. An International Society of Nurses in Genetics task force was created to identify key content for entry-level practitioners. METHOD: The task force reviewed the literature and syllabi from existing undergraduate courses to inform the development of entry-level student genomic competencies. RESULTS: Nine genomic competencies were identified. A crosswalk mapped the competencies to select professional organization standards. CONCLUSION: The crosswalk assists prelicensure nursing faculty to integrate genomic competencies into existing curriculum programs or stand-alone courses. Future steps include consultation with international nursing genomic experts to standardize curricular competencies for use by nurse educators around the world. The crosswalk links these competencies to professional standards, which provides robust demonstration of attention to accreditation requirements
Diagnostic Capability of Ultrasonography in Evaluating Peripheral Nerve Injuries of the Brachial Plexus
No full textBACKGROUND: The purpose of this study is to determine the diagnostic capability of ultrasonography (US) in patients with suspected brachial plexus injury (BPI) to the terminal nerves by comparing physical examination (PE) findings with US, electromyography (EMG), and magnetic resonance imaging (MRI) reports. METHODS: All patients at a single institution who underwent US for peripheral nerve injury of the brachial plexus and terminal nerves resulting in sensory-motor deficits from October 1, 2017 to October 31, 2023 were identified. A retrospective chart review was performed. Each PE, US, EMG, and MRI reports were given an overall rating: normal or abnormal. Terminal nerves (musculocutaneous, axillary, radial, ulnar, medial) were individually assessed as normal or abnormal. The interobserver agreement between reports was calculated using Cohen kappa. Specificity and sensitivity analyses were performed to determine diagnostic accuracy and were reported with 95% confidence intervals (CI). RESULTS: A total of 120 patients were included. Most injuries were traumatic in nature (78.8%) and were low-energy (53.8%). When each imaging modality was compared with the PE findings, EMG had the highest interobserver agreement (Cohen kappa = 0.18), followed by US (Cohen kappa = 0.10), and last MRI (Cohen kappa = 0.07). The US had the highest sensitivity (0.92, CI = 0.85, 0.96) among the 3 imaging modalities (Table 2). On US, the ulnar nerve was most commonly abnormal (n = 84, 70.0%). CONCLUSION: Ultrasonography serves as a useful adjunct in the workup of patients with suspected peripheral BPI and is reliable in localizing the pathology of injured terminal nerves in the brachial plexus
Real-time PCR assay design and validation for Prevotella bivia, Peptostreptococcus anaerobius, and Dialister micraerophilus, bacteria associated with increased HIV susceptibility
No full textMany genital anaerobes, including Prevotella bivia, Peptostreptococcus anaerobius, and Dialister micraerophilus, are underexplored despite being Bacteria Associated with HIV Seroconversion, Inflammation, and immune Cells (BASICs). This is partly due to the lack of molecular tools for their detection and quantification. To address this gap, we designed and validated three real-time qPCR assays for rapid and cost-effective analysis. qPCR assays were designed based on the species-specific core genomes of the three target genital anaerobic species. Assay sensitivity, specificity, and quantification characteristics were assessed using a synthetic oligonucleotide and DNA extracted from closely related species (n = 27-42) and human urogenital swabs (n = 111-114). The resultant assays demonstrated 100% sensitivity and specificity for bacterial isolates and high sensitivity (94.6%-97.7%) and specificity (92.8%-95.7%) for human urogenital swabs. The linear dynamic range was 5.0 × 10 to 1.0 × 10 copies/µL for P. bivia and D. micraerophilus assays, and 2.5 × 10 to 1.0 × 10 copies/µL for the P. anaerobius assay. Assay efficiency ranged from 99.0% to 112.0%. These assays provide a highly sensitive and specific method for the analysis of bacterial isolates, urogenital samples, and in vitro or ex vivo experiments, which can enhance our understanding of the epidemiology, clinical impact, and biology of key genital anaerobes associated with HIV risk
Assessment and management of suicidality in a mental health survey among poverty affected adolescents in Nepal
No full textBACKGROUND: Adolescent suicidality currently ranks as the third leading cause of death among adolescents, affecting global adolescent population, particularly in low- and middle-income countries (LMICs) like Nepal. This study explores the assessment of suicidality as an adverse event in adolescent mental health research in Nepal and outlines practical strategies for integrating suicide management protocols into mental health surveys in LMICs. It offers guidance on suicide risk assessment and referral pathways for vulnerable adolescents and contribute to suicide prevention efforts. METHODS: This study, a part of a cross-sectional survey with 490 adolescents aged 13-15 in public secondary schools in Kathmandu valley, used a three step approach of the Suicide Management Protocol (SMP) to identify and manage participants at risk of suicidality. Using the specific item under the measurement of mental health among adolescents and young people at the population level (MMAPP) tool followed by administering the suicide screening tool, those at risk of suicidality were identified by the researchers. Clinical assessments were then conducted by the psychosocial counsellor to categorize risk levels using Beck Suicide Intent Scale (BSIS) and provided appropriate management according to the severity. RESULTS: Of total 490 participants, while the single item under the MMAPP assessment identified 33 (6.7%) participants at risk, further screening using the suicide screening tool confirmed 25(5.1%) as positives, by the researchers. The psychosocial counsellor clinically assessed the 25 participants screened as suicide risk positive and found that 10 (40%) as high risk, 8 (32%) as moderate, and 7 (28%) as low risk. The clinical management of the cases at a differing level of risk was then managed as per the designated clinical pathways by developing protective behavior and reducing suicide related risk factors. All the participants were found to be safe and functioning normally through the course of clinical management, ranging from 2 to 6 sessions. CONCLUSIONS: Overall, integrating suicidality measures in mental health surveys was found to be effective suicide assessment and preventive strategy for adolescents in Nepal. Developing suicide management protocols within mental health surveys is essential and feasible for real-time monitoring and response to suicidal behavior among at-risk populations in LMICs, including Nepal