Clinical Care Research Articles

Interdisciplinary multimodal pain therapy: does the dose make adifference? : Acomparison from routine clinical care

Interdisciplinary multimodal pain therapy (IMPT) is an established treatment for patients with severe chronic pain. Little evidence is available on the role of treatment dosage and, in particular, on the association between the duration of IMPT and treatment outcome. The aim of this retrospective study was to compare the medium-term treatment success of ashort inpatient (SIT, 1week) and along outpatient (LOT, 4weeks) IMPT with acomparable treatment concept and comparable therapy intensity (20 h/week) in patients with severe chronic pain. Patients in both groups completed the German Pain Questionnaire at the beginning and end of IMPT as well as after 3months. Primary outcome measures included pain-related impairment and average pain intensity at follow-up in patients of comparable sex, age as well as pain intensity and impairment at the beginning of the therapy. While both groups initially showed significant treatment effects in pain-related impairment and average pain intensity, LOT patients (n = 32) reported significantly better values in both variables at 3‑month follow-up compared with SIT patients (n = 32). This was due to sustained positive effects in LOT patients and worsening in the SIT group. The results indicate that initial treatment effects can be observed in both treatment settings, but alonger duration of therapy seems to favour the long-term stability of treatment effects.

Urogynecologic Care for Women Who Are Incarcerated

In the United States, approximately 180,700 women are incarcerated across jails and prisons, comprising a demographic with an aging population and a higher growth rate compared to men. Despite this demographic trend, research into urogynecologic care for women who are incarcerated is notably lacking, with few studies addressing pelvic floor disorders such as incontinence, and even fewer focusing on access to treatment options like vaginal pessaries or surgical interventions. Women who are incarcerated may face unique challenges in obtaining urogynecologic care, including limited access to medical evaluations, invasive search procedures affecting intravaginal device use, and inadequate hygiene resources, all of which hinder effective management strategies. Barriers to nonsurgical treatments like pelvic floor physical therapy are exacerbated by transportation logistics, while access to surgical interventions is impeded by complex approval processes within correctional facilities. In addition, managing incontinence with limited access to hygiene products and bathroom facilities further compromises the health and dignity of incarcerated women. Urgent attention and advocacy are needed to address disparities in research and clinical care for incarcerated populations. As a first step, we urge clinicians to acquaint themselves with the correctional facilities in their areas and the current health care pathways for women incarcerated in these facilities. It is our collective responsibility to ensure equitable and compassionate care for this vulnerable population.

Outcomes of adolescent children with severe cardiogenic shock referred for extracorporeal membrane oxygenation: insight from collaboration of adult shock team and paediatric cardiac critical care.

Adolescents with severe cardiogenic shock can present to both paediatric and adult centres. We present six adolescent children who had extracorporeal membrane oxygenation consultation fast-tracked with clinical care input from the adult multidisciplinary team, including interhospital transfers on extracorporeal membrane oxygenation. After recovery on conventional cardiogenic shock care or extracorporeal membrane oxygenation, or bridge to transplant, all had favourable neurologic outcome.

Hyperkalemia and maintenance of renin-angiotensin system inhibitor therapy after initiating SGLT-2 or DPP-4 inhibitors.

Post-hoc analyses of clinical trials suggest that sodium-glucose cotransporter-2 inhibitors (SGLT-2i) lower the risk of hyperkalemia and facilitate the use of renin-angiotensin system inhibitors (RASi) in people with type 2 diabetes. Whether this is also observed in routine care is unclear. We investigated whether SGLT-2i lowered the risk of hyperkalemia and RASi discontinuation as compared to dipeptidyl peptidase 4 inhibitors (DPP-4i). Using the target trial emulation framework, we studied adults with type 2 diabetes (T2D) who started SGLT-2i or DPP-4i in Stockholm, Sweden (2014-2021). The outcomes were incident hyperkalaemia (potassium>5.0 mmol/L), mild hyperkalemia (potassium>5-≤5.5mmol/L) and moderate to severe hyperkalemia (potassium>5.5mmol/L). Among RASi users, we studied time to RASi discontinuation through evaluation of pharmacy fills. Cox regression with inverse probability of treatment weighting was used to estimate per-protocol hazard ratios (HRs). 29 849 individuals (15 326 SGLT-2i and 14 523 DPP-4i initiators) were included (mean age 66 years, 37% women). About one third of participants in each arm discontinued treatment within a year. Compared with DPP-4i, SGLT-2i use was associated with a lower rate of hyperkalemia (HR 0.77; 95% CI: 0.64-0.93), including both mild (0.76; 0.62-0.93) and moderate/severe (0.53; 0.40-0.69) hyperkalemia events. Of 19.116 participants that used RASi at baseline, 7% discontinued therapy. Initiation of SGLT-2i vs. DPP-4i was not associated with the rate of RASi discontinuation (0.97; 0.83-1.14). Results were consistent in intention-to-treat analyses and across strata of age, sex, cardiovascular comorbidity, and baseline kidney function. In patients with diabetes managed in routine clinical care, the use of SGLT-2i was associated with lower rates of hyperkalemia compared with DPP-4i. Possibly because of a relatively high rate of treatment discontinuations, this was not accompanied by higher persistence on RASi therapy.

County-level racial bias is associated with worse care for white and especially black older US adults: a cross-sectional observational study

ObjectiveTo assess the association of county-level bias about black and white people with patient experience, influenza immunisation, and quality of clinical care for black and white older US adults (age...

Collaboration between registered dietitians and gastroenterologists in cystic fibrosis care: Results of an international cross-sectional survey.

Collaboration between registered dietitians and gastroenterologists has not been evaluated in cystic fibrosis (CF). We surveyed registered dietitians and gastroenterologists regarding the current participation of gastroenterologists in CF centers and identified possible areas to enhance partnership between the two disciplines. An anonymous online survey was distributed targeting registered dietitians and gastroenterologists involved in CF care through three international listservs (CF Nutrition, CF DIGEST, and PEDGI) over a 6-week period. SurveyMonkey was used, and informed consent was obtained. A total of 131 respondents participated in this survey, including 80 registered dietitians and 51 gastroenterologists (41 pediatric and 10 adult gastroenterologists). Most respondents (82%) were from the United States, and two-thirds had ≥5 years of experience in CF. A significant number of registered dietitians reported the nonavailability of gastroenterologists for collaboration and there was greater availability of gastroenterologists in pediatric centers. Barriers to interdisciplinary collaboration included lack of CF expertise and dedicated time among the gastroenterologists and difficulties in coordinating the gastroenterology clinics. More gastroenterologists than registered dietitians perceived that they worked collaboratively with the other discipline in various domains (clinical care, quality improvement, research, presentations, and publications). Both disciplines had mutual respect and interest to further the collaboration. There is an increased need for gastroenterologist participation and collaboration (particularly in adult centers) in CF alongside registered dietitians to enhance comprehensive patient care. Future efforts should focus on training more gastroenterologists in CF and facilitating easier access to gastroenterologists for the CF population.

. The significance of serum sST2 and cfDNA in children with severe pneumonia complicated by myocardial damage

Objective: The paper aimed to explore the significance of serum sST2 and cfDNA to prevent atrial inflammation in children with severe pneumonia complicated by myocardial damage. Methods: 120 children with severe pneumonia complicated by myocardial damage who were treated in the Children's Department of the author's hospital from April 2021 to December 2023 were recruited as research subjects. The children were randomly divided into two groups, one group of 60 children received personalized care intervention based on serum sST2 and cfDNA (personalized care group), and the other group of 60 children received routine care (routine care group). The clinical data of the two groups of patients were compared. The changes in serum sST2 and cfDNA levels of patients were compared before and after care. ELISA kits were used to test atrial inflammation marker levels before and after patient care. The patient's cardiac function was assessed through cardiac ultrasound. the nursing intervention effects of the two groups was compared. The patient satisfaction with nursing care was compared between the two groups. Results: There was no distinction in the general record of the two groups (P>0.05). Before care, there was no distinction in serum sST2 and cfDNA levels between the two groups (P>0.05). After care, the serum sST2 and cfDNA levels in the personalized care group were lower than those in the routine care group (P<0.05). There was no difference in CRP, cTn, 1L-6 and TNF-α between the two groups before nursing (P>0.05). After nursing, the levels of CRP, cTn, 1L-6 and TNF-α in personalized nursing were lower than those in the conventional nursing group (P<0.05). Parameters such as EF and E/A in the personalized care group were higher than those in the routine care group (P<0.05). The LVEDd and LVESd in the personalized care group were smaller than routine care group (P<0.05). The improvement rate of cardiac function, remission rate of atrial inflammation and 6-month re-hospitalization rate in the personalized care group were lower than conventional care group (P<0.05). The very satisfied rate in the personalized care group was higher than routine care group (P<0.05), and the dissatisfaction rate in the personalized care group was lower than routine care group (P<0.05). Conclusion: Personalized nursing intervention based on serum sST2 and cfDNA can significantly improve the cardiac function of children with severe pneumonia complicated by myocardial damage, reduce the levels of atrial inflammation markers, and advance the satisfaction of children and their families. These findings underscore the importance of applying serum sST2 and cfDNA monitoring in clinical care and the significant benefits of personalized care in preventing atrial inflammation, improving heart health, and improving patient quality of life.

Plant Extracellular Nanovesicle-Loaded Hydrogel for Topical Antibacterial Wound Healing In Vivo.

Bacterial infections impede wound healing and pose significant challenges in clinical care. There is an immediate need for safe and targeted antivirulence agents to fight bacterial infections effectively. In this regard, bioderived nanovesicles have shown significant promise. This work demonstrated significant antibacterial properties of extracellular nanovesicles derived from plant (mint) leaf juice (MENV). A hydrogel (HG) was developed using oxidized alginate and chitosan and loaded with antibacterial MENVs (MENV-HG). This formulation was investigated for topical HG dressings to treat Gram-positive Micrococcus luteus and Gram-negative Escherichia coli-invasive wounds. The developed HG was injectable, biocompatible (>95% cell was viable), nonhemolytic (<5% hemolytic capacity), self-healing and exhibited strong physical and mechanical interactions with the bacteria cells (MENV-HG-treated bacteria were significantly more elastic compared to the control in both M. luteus (1.01 ± 0.3 MPa, p < 0.005 vs 5.03 ± 2.6) and E. coli (5.81 ± 2.1 MPa vs 10.81 ± 3.8, p < 0.005). MENV-HG was topically applied on wounds with a slow MENV release profile, ensuring effective healing. These in vivo results demonstrated decreased inflammation and expedited healing within 10 days of treatment (wound area closure was 99% with MENV-HG treatment and 87% for control). Taken together, MENV-HGs have the potential for a scalable and sustainable wound dressing strategy that works satisfactorily for bacteria-infected wound healing and to be validated in clinical trials.

Process mapping with failure mode and effects analysis to identify determinants of implementation in healthcare settings: a guide.

Generating and analyzing process maps can help identify and prioritize barriers to the implementation of evidence-based practices in healthcare settings. Guidance on how to systematically apply and report these methods in implementation research is scant. We describe a method combining a qualitative approach to developing process maps with a quantitative evaluation of maps drawn from the quality improvement literature called failure mode and effects analysis (FMEA). We provide an outline and guidance for how investigators can use process mapping with FMEA to identify and prioritize barriers when implementing evidence-based clinical interventions. Suggestions for methods and reporting were generated based on established procedures for process mapping with FMEA and through review of original research papers which apply both methods in healthcare settings. We provide case examples to illustrate how this approach can be operationalized in implementation research. The methodology of process mapping with FMEA can be divided into four broad phases: 1) formulating a plan, 2) generating process maps to identify and organize barriers over time, 3) prioritizing barriers through FMEA, and 4) devising an implementation strategy to address priority barriers. We identified 14 steps across the four phases. Two illustrative examples are provided. Case 1 describes the implementation of referrals to chiropractic care for adults with low back pain in primary care clinics. Case 2 describes the implementation of a family navigation intervention for children with autism spectrum disorder seeking care in pediatric clinics. For provisional guidance for reporting, we propose the REporting Process mapping and Analysis for Implementation Research (REPAIR) checklist. Process mapping with FMEA can elucidate barriers and facilitators to successful implementation of evidence-based clinical interventions. This paper provides initial guidance for more systematic applications of this methodology in implementation research. Future research should use a consensus-building approach, such as a multidisciplinary Delphi panel, to further delineate the reporting standards for studies that use process mapping with FMEA.

Predictive model for the risk of paediatric intensive care utilization in children with medical complexity: A longitudinal retrospective cohort study.

Children with medical complexity (CMC) are at increased risk of admission in intensive care. Despite improvements in mortality rates, there remains a burden of morbidity, long-term health care needs and hospital readmissions. Beyond clinical factors, socio-demographic determinants could impact utilization of acute services. To identify risk factors that can differentiate CMC who are admitted to the paediatric intensive care unit (PICU). A 6-year longitudinal retrospective cohort study evaluated clinical, socio-demographic and health care utilization. A total of 248 CMC were included, with a median age of 13 years (9.75-17.00). Intensive care admission rate was 47.2%. The risk of PICU admission was higher for children undergoing surgical interventions (HR = 1.58, 95% CI 1.34-1.86, p < .001) and those using medical devices (HR = 1.81, 95% CI 1.54-2.13, p < .001). Mother's higher educational level was a protective factor (HR = 0.66, 95% CI 0.55-0.79, p < .001). Multivariable analysis revealed significant associations between risk of admission and the presence of malignancy, comorbidities, home medical devices, surgical procedures and higher health care utilization. Children's age and higher maternal educational level acted as protective factors. Socio-demographic factors should be considered in the provision of care to CMC. Individualized assessments to guide supportive interventions adapted to socio-economic factors may prevent PICU admissions. This study highlights the importance of integrating individualized assessments of socio-demographic risk factors, such as maternal educational level, into the clinical practice of paediatric nurses. Moreover, targeted interventions, including educational resources and community support programmes, may optimize care.

A clinical outcomes data archive for a comprehensive fetal diagnosis and treatment center.

Data on near and long-term outcomes are critical for the care of all maternal-fetal patients presenting to a fetal center. This is important since physiologic and neurodevelopmental attributes do not manifest until childhood when multi-level factors influence health outcomes. Electronic health records (EHR) documentation structures are not designed for acquisition of key attributes, and changes over time and between-clinician differences can affect resultant output. Therefore, EHR derived datasets have limited ability to accurately characterize the clinical presentation and care trajectory of patients with congenital anomalies. Moreover, the fetus lacks a digital identity and requires relinking attributes documented in the maternal chart to those in the pediatric EHR. This conundrum amplifies in the setting of multiple gestation, returning maternal patients, and pregnancies with fetal demise. Current data systems result in incomplete abstraction of variables that may confound, mediate, or moderate critical associations. Our objective was to develop and implement a prospective data capture platform to transform EHR data into an analytic-grade database for multi-purpose use. A unified platform for longitudinal follow-up of maternal-child dyads named the Clinical Outcomes Data Archive (CODA) was constructed. CODA was designed using a data dictionary based on multidisciplinary input, a relational identity for each patient, fetus, and pregnancy, and a process by which EHR-sourced and chart-abstracted data are validated. Descriptive analyses were performed for data acquired between July 2022 - July 2023, and a comparison of studies before and after implementation of CODA is presented. 5,394,106 data points were validated for 7,662 patients across 12 conditions. 2% of data points were found to be unreliable or undocumented. 91% of data points were sourced from the EHR. 85% of condition-specific variables required manual chart abstraction. The study conducted with CODA contributed to 18 studies. CODA successfully merges EHR-sourced and manually abstracted documentation for longitudinal study of the maternal-child dyad.

LEAP! Rx: A randomized trial of a pragmatic approach to lifestyle medicine.

Clinicians lack the tools to incorporate physical activity into clinical care for Alzheimer's disease prevention. We tested a 52-week exercise and health education program (Lifestyle Empowerment for Alzheimer's Prevention [LEAP! Rx]) that integrates clinician referrals and community-based fitness resources. We randomized 219 participants to the LEAP! Rx (ie, exercise and monthly brain health education) or a standard-of-care control group and tested the effects on cardiorespiratory fitness, insulin resistance, body composition, lipids, and cognitive performance. Physicians were able to connect their patients to a community lifestyle intervention. The intervention group increased in cardiorespiratory fitness at 12 and 52 weeks (p=0.005). We observed no effects on secondary measures. Participants meeting 80% of weekly goals (150 min, moderate to vigorous activity) saw greater fitness improvements than those with less than 80% (p<0.001). These results hold promise for broad implementation of exercise interventions into larger healthcare systems and have implications for improved research recruitment strategies. NCT No. NCT03253341. Our community-based exercise program increased cardiorespiratory fitness. Our digital physician referral method increased the diversity of the participant sample. Our findings have implications for personalized dementia risk reduction strategies.

Radiomic Applications in Skull Base Pathology: A Systematic Review of Potential Clinical Uses

Objectives Radiomics involves the extraction and analysis of numerous quantitative features of medical imaging which can add more information from radiological images often beyond initial comprehension of a clinician. Unlike deep learning, radiomics allows some understanding of identified quantitative features for clinical prediction. We sought to explore the current state of radiomics applications in the skull base literature. Methods A systematic review of studies evaluating radiomics in skull base was performed, including those with and without machine-learning approaches. Studies were summarized into thematic elements as well as specific pathologies. Results A total of 102 studies with 26,280 radiographic images were included. The earliest radiomic study was published in 2017 with exponential growth in research since then. Most studies focused on tumor diagnosis (40.8%), followed by tumor prognosis (31.1%), automated segmentation (16.5%), other applications (7.8%), and lastly prediction of intraoperative features (3.9%). Pituitary adenomas (41.7%) and vestibular schwannomas (18.4%) represented the most commonly evaluated pathologies; however, radiomics could be applied to a heterogeneous collection of skull base pathologies. The average study included 258677 cases (range 4; 6755). Conclusion Radiomics offers many functions in treating skull base pathology and will likely be an essential component of future clinical care. Larger sample sizes, validation of predictive models, and clinical application are needed. Further investigation into the strengths and weaknesses of radiomic applications in skull base treatments is warranted.

Complete Digital Workflow for Manufacturing Presurgical Orthodontic Palatal Plates in Newborns and Infants with Cleft Lip and/or Palate

Deciding on the implementation or modification of steps in daily clinical care is a nuanced process that demands careful evaluation. This is crucial not only for selecting the most appropriate solution but also for achieving the best treatment outcome. Thus, implementing a workflow for treating cleft lip and/or palate patients with a presurgical orthodontic cleft-covering plate needs to consider objective factors, prioritized from most to least important: safety and quality level, user-friendliness, feasibility, and, finally, efficiency and cost. The goal of this workflow is to integrate CAD/CAM technologies into daily clinical routine to enhance technical and clinical efficiency, reduce the burden of cleft care, and simplify the implementation of these technologies in other facilities. To achieve this, a methodology based on intraoral scanning and additive manufacturing is employed to produce patient-specific passive palatal plates. The approach describes possible pitfalls and their resolution within the routine of a cleft centre, along with an exemplary case scenario. Comparative analysis between the digital workflow and the conventional process demonstrated the digital approach to be safer, higher in quality, more user-friendly, feasible, and cost- and time-effective than the conventional process.

The Cosmetic Readiness Questionnaire (CRQ): Validation of a Pre-Operative Psychological Screening Tool for Aesthetic Procedures.

Several psychological risk factors are associated with patient dissatisfaction with aesthetic procedures, such as body dysmorphic disorder (BDD), unmanaged mental health concerns or unrealistic expectations. Identifying these risks via preoperative screening may protect patients from adverse psychological outcomes and provide reputational or legal protection for practitioners. This study aimed to further develop and validate the Cosmetic Readiness Questionnaire (CRQ), a comprehensive psychological screening tool to assess patient suitability for surgical and non-surgical aesthetic procedures. The CRQ was validated across two studies in clinical contexts, examining structural and construct validity in a sample of 8031 individuals who completed the CRQ as part of routine clinical care. In a further sample (n = 574), criterion validity was explored through the relationship between the CRQ and dissatisfaction with past aesthetic treatments. Risk category cut-off scores were developed. Results supported the reliability and validity of a five-factor CRQ which measures Body Dysmorphia, Psychological Distress, Self-Criticism, Unrealistic Expectations and Lack of Openness. High scorers on the CRQ were 78% more likely to report dissatisfaction with a past cosmetic procedure than low scorers. The CRQ is a comprehensive and valid screening measure to identify patients who may require further psychological assessment or additional support prior to aesthetic treatment. Instructions are provided on how to implement the CRQ in clinical practice.

Electronic Clinical Decision Support Tools: Strategies to Improve the Management of Lower Respiratory Tract Infections in Low-Resource Settings.

Lower respiratory tract infection (LRTI) is a common reason for hospitalization and antibacterial use globally. There is considerable overlap in the clinical presentation of bacterial and viral LRTIs. Low- or middle-income countries (LMICs) face the dual challenge of appropriately targeting antibacterials for bacterial LRTI while reducing inappropriate antibacterials for viral LRTI. We propose a framework by which an electronic clinical decision support tool (eCDST) for diagnosing LRTI and reducing unnecessary antibacterial use may be developed, validated, and prospectively evaluated in an LMIC. The developed tool would be data driven, low-cost, feasible in the local setting, adaptable based on resource availability, and updated in real time, with prospective assessment to identify its clinical impact. We draw upon our team's recent experience developing an eCDST for LRTI management in Sri Lanka. Publicly sharing such processes and data is valuable, such that we can collectively improve clinical care in LMICs and other settings.

Development and Evaluation of the Telehealth in Motor Neuron Disease System: The TIME Study Protocol.

For more responsive care provision for motor neuron disease and caregivers, a digital system called Telehealth in MND-Care (TiM-C) was created. TiM-C sends regular symptom questionnaires to users; their responses are sent to health care professionals (HCPs). To enable people with motor neuron disease to participate in research studies more easily, a parallel platform was developed from TiM-C, called Telehealth in MND-Research (TiM-R). TiM-R can advertise studies, collect data, and make them available to MND researchers. This study has 4 work packages (WPs) to facilitate service approval, codevelop the TiM systems, and evaluate the service. Each WP aims to understand (1) what helps and hinders the approval of the TiM-C system as a National Health Service; (2) what aspects of MND care and research are currently unmet and can be addressed through the TiM-C and TiM-R systems; (3) how TiM-C influences MND care, from the perspective of people with motor neuron disease, their caregivers, and HCPs; and (4) the costs and benefits associated with TiM-C. WP1 will use semistructured interviews with 10-15 people involved in the approval of TiM-C to understand the barriers and facilitators to governance processes. WP2 will use individual and group interviews with 25-35 users (people with motor neuron disease, caregivers, HCPs, MND researchers, and industry) of TiM-C and TiM-R to understand the current unmet needs of these user groups and how TiM services can be developed to meet these needs. WP3 will use a process evaluation involving 5 elements; local context, engagement, user experiences, service impact, and mechanisms of action. A range of methods, including audits, analysis of routine data, questionnaires, interviews, and observations will be used with people with motor neuron disease, caregivers, and HCPs, both those using the system and those who declined the service when invited. WP4 will use data collected through the process evaluation and known costs to conduct a cost-consequence and budget impact analysis to explore the cost-benefit of the TiM-C service. Most data collected will be qualitative, with thematic and framework analysis used to develop themes from transcripts and observations. Descriptive statistics or t tests and chi-square tests will be used to describe and analyze quantitative data. This study has received ethical approval and has begun recruitment in 1 site. Further, 13 specialist MND centers will adopt TiM-C and the TIME study, beginning in July 2024. The study will conclude in November 2026 and a final report will be produced 3 months after the completion date. This study will facilitate the implementation and development of TiM-C and TiM-R and fully evaluate the TiM-C service, enabling informed decision-making among health care providers regarding continued involvement and contribute to the wider literature relating to how technology-enabled care services can affect clinical care. DERR1-10.2196/57685.

Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases.

Phenotypes play a fundamental role in medical genetics, serving as external manifestations of underlying genotypes. Deep phenotyping, a cornerstone of precision medicine, involves precise multi-system phenotype assessments, facilitating disease subtyping and genetic understanding. Despite their significance, the field lacks standardized protocols for accurate phenotype evaluation, hindering clinical comprehension and research comparability. We present a comprehensive workflow of deep phenotyping for rare bone diseases from the Genetics Clinic of Skeletal Deformity at Peking Union Medical College Hospital. Our workflow integrates referral, informed consent, and detailed phenotype evaluation through HPO standards, capturing nuanced phenotypic characteristics using clinical examinations, questionnaires, and multimedia documentation. Genetic testing and counseling follow, based on deep phenotyping results, ensuring personalized interventions. Multidisciplinary team consultations facilitate comprehensive patient care and clinical guideline development. Regular follow-up visits emphasize dynamic phenotype reassessment, ensuring treatment strategies remain responsive to evolving patient needs. In conclusion, this study highlights the importance of deep phenotyping in rare bone diseases, offering a standardized framework for phenotype evaluation, genetic analysis, and multidisciplinary intervention. By enhancing clinical care and research outcomes, this approach contributes to the advancement of precision medicine in the field of medical genetics.

Incorporating multiracial and multiethnic experiences into genetic counseling practice and research: A necessary opportunity.

The conflation of race and genetic ancestry can have harmful consequences. Biological conceptualizations of race have long been used to justify inequities and distract from social structures that afford opportunities to some that are unjustly denied to others. Despite recent efforts within the scientific community to distinguish between the sociopolitical constructs of race and ethnicity and the biological constructs of genetic ancestry and genetic similarity, their conflation continues to influence genomic research and its translation into clinical care. One overlooked aspect of this problematic conflation is the extent to which discrete monoracial and monoethnic categorization systems persist and perpetuate unequal benefit-sharing in the clinical translation of genomic technologies. In genetic service delivery, reliance on discrete racial and ethnic categories undermines the clinical translation of genomic technologies for large segments of the global population. For multiracial and multiethnic individuals, who have complex identities that defy discrete categorization systems, the potential benefits of genomic discoveries are especially elusive. Scholars have recently begun to call for the inclusion of multiracial, multiethnic, and admixed individuals in race, ethnicity, and ancestry frameworks in genetics and genomics. However, little work has been done to explore and address the unique challenges and opportunities posed by multiracial/multiethnic individuals in genetic counseling specifically. We discuss how conceptualizing diversity along discrete racial and ethnic lines perpetuates inequitable patient care and limits efforts to increase inclusion and belonging within genetic counseling. Moreover, we argue that ongoing efforts to mitigate racial inequity must actively challenge the paradigm of monoracial and monoethnic categories to accomplish their goal.

Factors Associated with Caregivers' Decisions to Pursue a Diagnostic Evaluation After a Positive Autism Screen in Primary Care.

We sought to understand whether a child's sex, age, race, ethnicity, caregiver education, family income, and/or number of endorsed autism signs are associated with a caregiver's decision to pursue an autism diagnostic evaluation after their child received a positive autism screen. 129 children, 17-30 months, received a positive autism screen on the Modified Checklist for Autism in Toddlers-Revised with Follow-Up, and all caregivers were offered ready access to a diagnostic evaluation by a trained professional in English or Spanish at no cost. 88 children received an evaluation and 41 did not. The likelihood of receiving an evaluation was associated with the child's race. Only 58.1% of Black children were evaluated, compared to 80% of Hispanic/Latino and 88.5% of White children. Children of Spanish-speaking caregivers showed high rates of evaluation completion (85.7%). Children who were evaluated versus were not evaluated did not significantly differ in terms of child's sex, number of autism signs endorsed by the caregiver, caregiver's education and preferred language (English versus Spanish), or household income. Even though the present study removed many common barriers to receiving a timely diagnostic evaluation, caregivers of Black children were less likely to pursue an autism diagnostic evaluation for their child. Future research is needed to understand the needs and perspectives of Black families to promote engagement in clinical care and reduce disparities in receiving a timely autism diagnosis which is important for accessing supports and services that can improve children's outcomes.