Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks ...for hepatocellular carcinoma. An effective medical treatment with 2-2-nitro-4-trifluoromethylbenzoyl-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1. If identified early and treated appropriately, the majority of affected infants can remain asymptomatic. A clinical management scheme is needed for infants with HT-1 identified by NBS or clinical symptoms. To this end, a group of 11 clinical practitioners, including eight biochemical genetics physicians, two metabolic dietitian nutritionists, and a clinical psychologist, from the United States and Canada, with experience in providing care for patients with HT-1, initiated an evidence- and consensus-based process to establish uniform recommendations for identification and treatment of HT-1. Recommendations were developed from a literature review, practitioner management survey, and nominal group process involving two face-to-face meetings. There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet. Consensus recommendations for both immediate and long-term clinical follow-up of positive diagnoses via both newborn screening and clinical symptomatic presentation are provided.
Patients with Phenylketonuria (PKU) reportedly have decreased bone mineral density (BMD). The primary aim of this study was to perform a systematic review and meta-analysis to determine the extent ...and significance of low BMD in early treated patients with PKU. Secondary aims were to assess other bone status indicators including bone turnover markers (BTM) and to define areas for future research. Two research teams (Amsterdam, Netherlands and Atlanta, USA) performed literature searches for articles reporting data on BMD, osteopenia and osteoporosis, BTM or other bone indicators in patients with PKU. Included articles were compared between research teams and assessed for quality and risk of bias. A total of 13 unique articles were included; 11/13 articles reported BMD including a total of 360 patients. Ten out of 11 articles found BMD was significantly lower in patients with PKU. Meta-analyses for total BMD (TBMD; 3 studies; n = 133), lumbar spine BMD (LBMD; 7 studies; n = 247), and femoral neck BMD (FBMD; 2 studies; n = 78) Z-scores were performed. Overall effect sizes were: TBMD -0.45 (95% CI -0.61, -0.28); LBMD -0.70 (95% CI -0.82, -0.57); FBMD -0.96 (95% CI -1.42, -0.49). Definitions of osteopenia and osteoporosis were highly heterogeneous between studies and did not align with World Health Organization standards and the International Society for Clinical Densitometry positions on BMD measurement. Despite individual study findings of low BMD indicating higher risk of osteoporosis, pooled available data suggest reduction in BMD is not clinically important when using standard definitions of low BMD. Results from studies evaluating BTM are inconclusive. Phenylalanine concentration, vitamin D, PTH, and nutrient intake do not correlate with BMD or BTM. We recommend forthcoming studies use standard definitions of low BMD to determine clinical implications of BMD Z-scores below 0, explore cause of low BMD in the subset of patients with low BMD for chronological age (Z-score < -2) and assess fracture risk in patients with PKU.
Background: Supported employment provides individuals with intellectual disabilities (ID) the support needed for community work. ID work is an integral occupation of adult life, facilitates social ...interaction, and fosters a sense of accomplishment and independence. The purpose of this study was to explore the unique contribution of occupational therapy to supported employment of adults with ID.
Methods: Case study methodology incorporating qualitative and quantitative data were used to examine two supported employees. Qualitative data were collected from interviews and administration of the Occupational Self-Assessment (OSA) and Work Environment Impact Scale (WEIS). The Assessment of Motor and Process Skills (AMPS) was used to measure change. The Occupational Therapy Intervention Process Model (OTIPM) was used.
Results: Both supported employees demonstrated improvements in work performance, as demonstrated by improved motor and process ability scores, after intervention. The job coaches at this supported employment agency felt OT could add value to their team.
Conclusion: The OTIPM was effectively used to address work performance of supported employees. The value of OT was seen in the adaptation of tasks and environments for enhanced work performance. OTs skill in observation and targeting intervention was the most significant contribution in this study.
Abstract Introduction A patients’ perception of their abilities to complete daily tasks post-burn injury can be difficult to measure and warrants more research. To ensure patients with an upper ...extremity (UE) burn injury are gaining the functional outcomes they desire, one burn center developed a quality improvement (QI) project focused on burn patients’ perceived ability to complete daily tasks. Methods Occupational Therapists (OTs) assessed burn patients’ perceived UE function at evaluation and discharge with the QuickDASH, a self-reported outcome measure. Scores range from 0-100, higher scores indicate greater perceived deficits. The minimal clinically importance difference (MCID) is 15.9. Inclusion criteria was at least 18 years old, UE burn injury, hospitalized for > 48 hours, and cognitively able to participate. Data was collected & analyzed using Microsoft Excel. Normative data including means and standard deviations were reported. An analysis of variance (ANOVA) was performed to identify if changes in QuickDASH scores were significantly different for operative and non-operative patients. Results 115 patients met inclusion criteria from Sept. 2022 - Sept. 2023. 70.1% patients were male, 29.9% were female. The average total body surface area burned was 9.8%. The ANOVA did not find a significant difference in changes in QuickDASH scores between operative and non-operative patients (p=.79). The number of patients from initial data collection period to most recent who met the inclusion criteria increased, of those, the amount that completed a QuickDASH upon evaluation and discharged increased. See Table 1 below for the three data collection periods. Conclusions The QuickDASH is a helpful tool for OTs working in the acute phases of burn rehabilitation. Tracking QuickDASH scores for patients with an UE burn injury contributes to continuous efforts of improving the quality of care and promoting patients’ achievement of desired outcomes. The QuickDASH can identify therapy needs beyond an acute care setting and promotes patient engagement. Applicability of Research to Practice This QI project promotes continued growth for the burn center and adds to the body of knowledge about acute phases of burn rehabilitation. An area of opportunity for a future QI project includes implementing the QuickDASH in an outpatient setting, which would allow comparison to the patient’s acute care discharge score to promote continued progression towards desired outcomes. The presenters will continue to collect and analyze data prior to presentation if accepted.
Abstract Introduction Pediatric burn survivors experience difficulty returning to daily activities. Functional outcome measures are needed for therapists to use in acute care. At one burn center the ...Center for Appearance Research (CARe) Burn Scales Parent Quality of Life Form and Boston Activity Measure for Post Acute Care (AM-PAC) were used with the pediatric burn population. Methods Therapists used the AM-PAC with children 4-17. Therapists scored the child’s functional abilities at evaluation and discharge. The child’s ability to perform self-care was scored using the Daily Activity form and functional mobility was scored using the Basic Mobility form. Scores range from 6-24. Higher scores indicate greater independence. The AM-PAC was recently validated for use with the pediatric population, ages 4 and up. The project’s inclusion criteria were children 4 years and older with a burn injury, hospitalized for >4 days. For children under 4, therapists used the CARe. This form has several subscales and uses a Likert scale for rating. This project focused on subscales 2, 3, and 5, which assess parent confidence with burn care, social concerns about their child’s injury or scars, and parental stress, respectively. Sessions targeted building parent confidence and parents were appropriately referred if they indicated stress and social concerns. The CARe was administered to parents/caregivers of children 0-3 years old with a burn injury who were hospitalized >4 days. Results For the AM-PAC, data was collected on 17 patients who met inclusion criteria from September 2022-September 2023. 8 patients were female and 9 were male. The average affected total body surface area was 8.5%. The average scores for the AM-PAC Basic Mobility at evaluation was 18 and at discharge was 19.3. The average scores for the AM-PAC Daily Activity at evaluation was 16.6 and at discharge was 17.8. 9 children demonstrated improvement. For the CARe, data was collected on 12 patients who met inclusion criteria from September 2022-September 2023. The average age was 1.67 years old. The average score on the Confidence subscale was 26/35 at eval and the average score at discharge was 33.3/35. 10 patients demonstrated improvement from evaluation to discharge. Parents who reported social concerns and stress were referred to the unit Social Worker. Conclusions The AM-PAC and CARe are feasible and helpful tools to employ in acute burn rehabilitation for pediatric patients. They allow therapists working with these patients to evaluate and treat the functional needs of the child and caregivers. Applicability of Research to Practice This QI project adds to the body of knowledge about pediatric burn rehabilitation. More research is needed to evaluate the clinical utility of the AM-PAC and CARe. The presenters will continue to collect data and update the results prior to presentation if accepted.
To describe the function of patients with COVID-19 admitted to an acute care hospital early in the pandemic and to characterize change in function among those admitted to intensive care units (ICU) ...and to non-critical care services.
This descriptive, retrospective cohort study examined patients infected with SARS-CoV-2 admitted to a tertiary care medical center during the first wave of the pandemic in 2020. Included patients were stratified into 4 cohorts based on whether or not they received therapy during their hospitalization and whether or not their hospitalization included time in the ICU. Data on demographic characteristics, functional impairments, medical interventions, and functional outcomes were collected.
Hospital.
432 adult patients were included in this study (N=432).
ICU patients receiving therapy were more likely to have impaired cognition, impaired strength, and impaired sensation than non-ICU patients receiving therapy. Patients made improvements from evaluation to discharge on the Functional Status Score for the ICU, Activity Measure for Post-Acute Care Daily Activity, and AM-PAC Basic Mobility Short Forms.
Patients admitted with COVID-19 experienced significant functional impairments but also demonstrated improvement during the course of their hospitalizations. This study can facilitate health care provider awareness of the detrimental functional effects of COVID-19 and the potential role of rehabilitation services for these patients.
Purpose: The purpose of this dissertation was to explore how clinical education can be leveraged to promote the cultural competence of aspiring clinicians. Cultural competence training is important ...in addressing health disparities and recommended in health professions education, but barriers exist to its implementation. This dissertation seeks to explore and appraise the literature on cultural competence instruction in rehabilitation education, evaluate the impact of a clinical education experience for speech language pathology (SLP) students on their perceived cultural competence, and assess the outcomes for clients receiving feeding therapy services from supervised SLP students, including the client perceptions of cultural competence and family centeredness.Methods: This dissertation is completed as a three-paper dissertation using transformative mixed methods. Two theories, Campinha-Bacote’s Process of Cultural Competence in the Delivery of Healthcare Services and Dollarhide, Stone, and Sabali’s model of Social Justice Supervision guided the design and implementation of three related research studies. The first study is an integrative review of the literature on cultural competence training in rehabilitation education. This integrative review used a targeted search and evaluated the literature using the Mixed Methods Assessment Tool. The second manuscript is a mixed methods observational study of the impact of a clinical education experience on the perceived cultural competence of SLP students. The author collected pre-test and post-test data on the perceived cultural competence of students as well as qualitative data from journal entries and a focus group. Quantitative data analysis included paired t-tests, reliability tests, and correlation statistics. Qualitative data analysis consisted of thematic analysis of the findings from journal entries and a focus group. Finally, the third study evaluated the client outcomes of a feeding therapy camp delivered by supervised SLP students. The author collected pre-test and post-test data on participants’ feeding skills. Parents and caregivers were also asked to rate the cultural competence and family-centeredness of the intervention using two assessments. Paired t-tests and an analysis of variance (ANOVA) were used to analyze the data.Findings: The integrative review included 34 studies for appraisal using the Mixed Methods Assessment Tool. The authors identified resources for educators wishing to include cultural competence teaching in their curriculum, such as outcome measures. The second study on the clinical education experience for SLP students found that students demonstrated improvements in their perceived cultural competence and reported growth after participation in the clinical education experience. Finally, clients who participated in the feeding therapy camp provided by SLP students demonstrated improvements in feeding skills and the parents and caregivers rated the intervention as culturally competent and family centered.Implications: This dissertation adds to the body of knowledge about how to promote cultural competence among prospective healthcare providers. The integrative review summarizes literature and provides resources for educators. The two intervention studies provide a feasible model for delivering cultural competence education to clinicians in training while providing effective and culturally competent services to clients.
There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) ...identified through newborn screening.
Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism – Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed.
The average age at notification of first newborn screen results to primary care or metabolic providers was 7.45days. The average octanoylcarnitine (C8) value on first newborn screen was 11.2μmol/L (median 8.6, range 0.36–43.91). A higher C8 level correlated with an earlier first subspecialty visit. Subjects with low birth weight had significantly lower C8 values. Significantly higher C8 values were found in symptomatic newborns, in newborns with abnormal lab testing in addition to newborn screening and/or diagnostic tests, and in subjects homozygous for the c.985A>G ACADM gene mutation or compound heterozygous for the c.985A>G mutation and deletions or other known highly deleterious mutations. Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985A>G ACADM gene mutation. C8 and genotype category were significant predictors of the likelihood of having neonatal symptoms. Neonates with select triggers were more likely to have symptoms and laboratory abnormalities.
This collaborative study is the first in the United States to describe health associations of a large cohort of newborn-screened neonates identified as affected with MCADD. The IBEM-IS has utility as a platform to better understand the characteristics of individuals with newborn-screened conditions and their follow-up interactions with the health system.
•Retrospective analysis of 221 newborn-screened subjects with MCAD deficiency•NBS C8 and genotype were significant predictors of having neonatal symptoms.•Symptomatic neonates were more likely to have at least one copy of 985A>G mutation.•Neonates with select triggers were more likely to have symptoms.•The IBEM-IS is a platform to better understand newborn-screened conditions.
•Patients with left ventricular assist devices (LVADs) require warfarin anticoagulation.•The traditional approach to prevent bleeding during surgery is to stop warfarin 5–6 days before and to use ...intravenous heparin or subcutaneous injections of heparin before and after surgery, when warfarin is restarted, until therapeutic levels of anticoagulation are reached.•After 4-factor prothrombin complex concentrate (4F-PCC) immediately reverses warfarin, therapeutic anticoagulation levels are recovered at 48 hours if warfarin is continued.•By using titrated dosages of 4F-PCC on the day of surgery to immediately, but temporarily, reverse warfarin, we can continue warfarin and avoid the need for traditional heparin-bridging treatments for 10–14 days.
Patients with left ventricular assist devices (LVADs) require interruption of warfarin for invasive procedures, but parenteral bridging is associated with many complications. Four-factor prothrombin complex concentrate (4F-PCC) can temporarily restore hemostasis in patients undergoing anticoagulation with warfarin.
This pilot study evaluated the strategy of using variable-dose 4F-PCC to immediately and temporarily reverse warfarin before invasive procedures without holding warfarin in patients with LVADs. The duration of effect of 4F-PCC on factor levels and time to reestablish therapeutic anticoagulation post procedure were assessed.
Adult patients with LVADs and planned invasive procedures were enrolled from a single center. Warfarin was continued uninterrupted. The 4F-PCC dose administered immediately pre-procedure was based on study protocol. International normalized ratio (INR)- and vitamin K-dependent factor levels were collected before and during the 48 hours after 4F-PCC administration. The use of parenteral bridging, International Society for Thrombosis and Haemostasis major and clinically relevant nonmajor bleeding (CRNMB) and thromboembolic events at 7 and 30 days were collected.
In 21 episodes of 4F-PCC reversal, median baseline INR was 2.7 (IQR 2.2–3.2). The median dosage of 4F-PCC administered was 1794 units (IQR 1536–2130). At 24 and 48 hours post 4F-PCC administration, median INRs were 1.8 (IQR 1.7–2.0) and 2.0 (IQR 1.9–2.4). Two patients required postoperative bridging. One patient experienced major bleeding within 72 hours, and 2 experienced CRNMB within 30 days. There were no thromboembolic events. Baseline and post 4F-PCC vitamin K-dependent factor levels corresponded with changes in INR values. The median time to achieve therapeutic INR post-procedure was 2.5 days (IQR, 1–4).
Administration of 4F-PCC for temporary reversal of warfarin for invasive procedures in patients with LVADs allowed for continued warfarin dosing with minimal use of post-intervention bridging, limited bleeding and no thromboembolic events.
Display omitted
Detection of circulating tumor DNA (ctDNA) in patients who have completed treatment for early-stage breast cancer is associated with a high risk of relapse, yet the optimal assay for ctDNA detection ...is unknown.
The cTRAK-TN clinical trial prospectively used tumor-informed digital PCR (dPCR) assays for ctDNA molecular residual disease (MRD) detection in early-stage triple-negative breast cancer. We compared tumor-informed dPCR assays with tumor-informed personalized multimutation sequencing assays in 141 patients from cTRAK-TN.
MRD was first detected by personalized sequencing in 47.9% of patients, 0% first detected by dPCR, and 52.1% with both assays simultaneously (P < 0.001; Fisher exact test). The median lead time from ctDNA detection to relapse was 6.1 months with personalized sequencing and 3.9 months with dPCR (P = 0.004, mixed-effects Cox model). Detection of MRD at the first time point was associated with a shorter time to relapse compared with detection at subsequent time points (median lead time 4.2 vs. 7.1 months; P = 0.02).
Personalized multimutation sequencing assays have potential clinically important improvements in clinical outcome in the early detection of MRD.
PDF
