Initial Visit Research Articles

Predictors of Delayed Recovery in Japanese Patients With Whiplash-Associated Disorders: The Role of Initial Catastrophizing and Disability Levels.

Background Whiplash-associated disorders are sequelae of traffic accidents that frequently result in sustained pain and disability due to a broader spectrum of symptoms than typical neck pain. Several studies have used the length of time from injury to the completion of insurance claims as a measure of recovery time for patients with whiplash-associated disorders. However, studies on the initial factors in patients whose treatment exceeds 90 days are lacking. Therefore, this study aimed to identify key factors predicting prolonged treatment duration in Japanese patients with whiplash-associated disorders. Methodology We included 103 outpatients who presented with neck pain after a motor vehicle accident. During their initial visits, various factors were comprehensively assessed, including pain intensity, Neck Disability Index (NDI), six items of the Pain Catastrophizing Scale (PCS-6), a short version of the Tampa Scale of Kinesiophobia, the Injustice Experience Questionnaire, cervical range of motion, and radiographic findings. Patients were categorized into "early recovery" or "delayed recovery" groups based on the time elapsed between the first assessment and the end of the treatment period. Logistic regression analysis identified cut-off values from receiver operating characteristic curves to help identify factors contributing to delays in the recovery process. Results Analysis showed that initial NDI and PCS-6 scores of ≥35% and ≥12, respectively, were significant predictors of delayed recovery, increasing the odds of delay by factors of 3.19 and 4.46, respectively. Conclusions Our findings may aid in appropriate clinical decision-making and lead to interventions to minimize the negative impact of prolonged treatment duration on patient recovery.

The Importance of Determining the Level of Bone Metabolism Markers and Vitamin D in the First Year of Life in the Kazakh Population.

The research aimed to determine the importance of vitamin D and markers of bone metabolism in the overall assessment of bone mineralization during a child's first year of life. The 198 children were selected by screening all infants seen at our pediatric clinic over a 2-year period from 2020-2022 and including those who met the eligibility criteria of being aged 0 to 1 year, healthy with no chronic conditions, and not on vitamin D supplementation. Children were divided into 3 groups depending on the content of vitamin D in the blood serum: sufficient, insufficient, and deficient. The markers of bone tissue status included: markers of mineral metabolism (calcium, phosphorus, parathyroid hormone, calcitonin), a marker of bone formation (osteocalcin), resorption marker (deoxypyridinoline). Laboratory values were obtained at the time of study enrollment during the initial study visit. Labs were not repeated during the course of the study. A quarter of the infants exhibited vitamin D deficiency at enrollment with serum 25OHD concentrations below 20 ng/mL, which showed a positive correlation with serum calcium and phosphorus -concentrations and a negative correlation with PTH, while osteocalcin and deoxypyridinoline concentrations remained consistent regardless of vitamin D status. The study's practical significance allows for the recommendation of using vitamin D -concentrations as a marker to detect bone formation and mineral metabolism disorders in children during their first year of life. By identifying and addressing these issues early on, the health care system aims to ensure better musculoskeletal health for children.

Transition mentorship for spina bifida patients with the JUMP program: a pilot study.

The transition from pediatric to adult care is challenging for patients and families with spina bifida (SB). Lifelong care relationships yield to new care environments that are typically larger, less personal, and less engaged with the nuances of SB care. Adolescence and young adulthood are often characterized by personal and psychological stresses due to factors independent of illness or chronic medical complexity. Surveys have demonstrated that transition is associated with uncertainty, anxiety, and elevated risk of adverse events for many SB patients. To help mitigate this, the authors developed a trial mentorship program between teen patients with SB and undergraduate/medical students. This study analyzes and presents the initial outcomes from this program. The authors created the Join, Unite, Motivate, and Prepare (JUMP) program to improve readiness for the transition process. The mentee target population was patients aged 13-19 years receiving care at the authors' SB clinic. Mentors were screened/approved undergraduate/medical students who volunteered to participate and successfully completed online training in mentorship. Upon enrollment, each patient set a combination of clinical, self, and parent/guardian goals using the individualized transition plan. These goals were shared with the mentor, mentee, parent/guardian, and physician. To monitor success, the SB program director routinely met with each mentor to discuss progress made and areas of growth. These included continuous quantitative and qualitative goal setting and failures that needed to be addressed for each agenda. Thirteen mentor-mentee matches were created over 9 months. Of the 13 matches, 6 had more than 5 communications after the initial meeting, and 1 mentor-mentee match is still in contact today. Noted success in the program has been through mentees gaining employment, applying for scholarships, starting college, and connecting with others who are going through similar circumstances. Challenges have arisen through failure to follow-up after the initial office visit, risk with using the virtual platform, and wide geographic dispersion of both mentors and mentees across the authors' state. Transition from pediatric to adult care for adolescents with SB has proven to be a large hurdle. Easing this process through well-thought-out, interactive processes has the potential to improve readiness, increase patient autonomy, and provide exposure to the adult healthcare community. However, the mentorship model, in the SB setting, has not proven to be the remedy.

The Effectiveness of Leukocyte-Poor Platelet-Rich Plasma Injections for Symptomatic Mild to Moderate Osteoarthritis of the Knee With Joint Effusion or Bone Marrow Lesions in a Japanese Population: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial

Background: Intra-articular platelet-rich plasma (PRP) injections have been proposed for the treatment of knee osteoarthritis (OA); however, their effectiveness in Japanese patients remains unclear. Purpose: To investigate whether 3 intra-articular injections of leukocyte-poor PRP (LP-PRP) improve symptoms and joint function in symptomatic Japanese patients with mild to moderate knee OA. Study Design: Randomized controlled trial; Level of evidence, 1. Methods: Of 72 patients screened, 30 were included and randomized to receive LP-PRP (n = 15) or saline (placebo; n = 15) injections between March 2019 and February 2023. Patients attended a screening visit and 3 treatment visits at 1 week apart, followed by 3 follow-up visits (at 4, 12, and 24 weeks) after the initial treatment visit. The primary efficacy outcome measure was the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score, whereas the secondary efficacy outcome measures were the proportion of patients showing a visual analog scale (VAS) improvement of ≥50%. Magnetic resonance imaging was performed to evaluate joint effusion and bone marrow lesions using the Whole-Organ Magnetic Resonance Imaging Score. Patients were followed for 24 weeks. Results: Patients in the PRP group (mean age, 65.9 years) had a mean hip-knee-ankle angle of 5.1°, with 7 and 8 patients demonstrating Kellgren-Lawrence grade 2 and 3 knee OA, respectively. Patients in the placebo group (mean age, 67.9 years) had a mean hip-knee-ankle angle of 3.8°, with 6 and 9 patients showing Kellgren-Lawrence grade 2 and 3 knee OA, respectively. No significant differences were identified in any baseline factors. The percentage change in Western Ontario and McMaster Universities Osteoarthritis Index scores from baseline to 24 weeks was significantly different (P= .032) between the PRP (median, 75.9%; quantile 1 [Q1], 49.6; quantile 3 [Q3], 94.1]) and placebo (median, 27.7%; Q1, –9.4; Q3, 80.9]) groups. Overall, 73.3% and 28.6% of the PRP group and placebo group, respectively, exhibited an improvement in visual analog scale scores of ≥50%, with a significant improvement observed in the PRP group (P = .027). Changes in bone marrow lesions from baseline to 24 weeks, as assessed on magnetic resonance imaging, significantly differed between groups (P = .017), with no significant differences in other secondary endpoints. Conclusion: In Japanese patients with knee OA, 3 intra-articular LP-PRP injections led to clinical improvements at 24-week follow-up and significant functional improvements and pain relief after 24 weeks.

Direct immunofluorescence on plucked hair outer root sheath can predict relapse in pemphigus vulgaris.

Prospective research is lacking on the utility of plucked hair outer root sheath direct immunofluorescence (ORS DIF) in the prediction of relapse in pemphigus vulgaris (PV) and the correlation of ORS DIF positivity with serum desmoglein antibody titers. We performed a prospective cohort study enrolling 80 PV patients in complete clinical remission at a tertiary care center in North India. Study participants underwent ORS DIF at baseline, which was repeated every 3 months. Skin biopsy DIF was done at study inclusion, repeated at 3 months, and upon clinical relapse. An antidesmoglein antibody titer was assessed concurrently with ORS DIF in a subset of patients. Patients on adjuvant therapy had their adjuvant therapy withdrawn either at the initial visit, at 3 months, or at a 6-month follow-up. Our objectives were to determine the association between positive ORS DIF and clinical relapse, the correlation between positive ORS DIF and skin biopsy DIF, and between positive ORS DIF and positive antidesmoglein antibody titers (when concurrently done). Twenty-two patients (27.5%) had a clinical relapse. Baseline immunological markers significantly associated with relapse are ORS DIF positivity with IgG (16/36 [45.44%] P = 0.005) and C3 (12/29 [41.37%] P = 0.047) and greater intensity of baseline IgG and C3 positivity in ORS DIF (IgG, P = 0.002; C3, P = 0.033). Notably, a significant correlation was observed between baseline positive ORS DIF and skin biopsy DIF (IgG, ρ = 0.695; C3, ρ = 0.498). Positive ORS DIF strongly correlated with positive anti-Dsg3 antibody titers (φs = 0.815; P < 0.01). Early withdrawal of adjuvant immunosuppressant (within 3 months) (P = 0.007) and positive ORS DIF were also associated with relapse (P = 0.017). ORS DIF is a reliable predictor of PV clinical relapse and demonstrated robust correlations with skin biopsy DIF and antidesmoglein antibody titers. Periodic assessment of ORS DIF aids in determining new-onset positivity that heralds clinical relapse.

FAILURE OF THE FIRST BIOLOGIC TREATMENT IN PATIENTS WITH SPONDYLOARTHRITIS: DATA FROM THE MOROCCAN REGISTRY OF BIOLOGICAL THERAPIES IN RHEUMATIC DISEASES (RBSMR)

Introduction:Spondyloarthritis is a group of chronic inflammatory rheumatic diseases that commonly affect young adults. The advent of biological background treatments has revolutionized the management of these conditions, although some patients may not respond adequately to these interventions. Objectives: To assess the prevalence of first biological treatment failure in spondyloarthritis and identify the factors associated with this outcome. Methods: Our study included patients with spondyloarthritis retained according to the ASAS criteria, aged over 18 years, treated with biological treatment, and providing written informed consent. The participants were sourced from the ten rheumatology departments in Morocco, utilizing data from the RBSMR registry, a multicenter historical-prospective registry. Primary failure was characterized by treatment inefficacy within the initial six months, while secondary failure concerns cases of ineffectivenessbeyond six months of treatment. Patients were assessed every six months with a scheduled follow-up period of three years. Inclusion began in June 2017 and ended in January 2019, when the database was first frozen. Results: A total of 194 patients were included in the study. The mean age was 40.23 years with a standard deviation of 13.68. The gender ratio was 1.73 (M/F). The average disease duration was 615.9 weeks with a standard deviation of 349.12. HLA-B27 antigen was positive in 66% of patients. Peripheral involvement was observed in 70% of patients, axial involvement in 96.4%, and enthesic involvement in 61.5%. Radiographic sacroiliitis was identified in 87.6% of patients, radiographic coxitis in 40.7%, and sonographic coxitis in 19.8%. Regarding extra-articular manifestations, 14.5% of patients experienced anterior uveitis, 6.9% had cutaneous psoriasis, and 10.7% had concomitant chronic inflammatory bowel disease. The ASDAS CRP indicated high activity in 50.9% of patients, and the BASDAI (spondyloarthritis activity index) exceeded 4 in 79.2% of patients. During the initial visit, 22.5% of patients were undergoing corticosteroid therapy, and 53.8% were receiving csDMARDs. Etanercept was the most commonly prescribed biological, accounting for 33%. Over the three-year follow-up, five primary failures and 17 secondary failures to the first biological treatment were observed (eight failures at the 12th month, six at the 18th month, and three at the 24th month), resulting in a prevalence of 11,85% for the failure of the first biological. In bivariate analysis, no statistically significant factors were found to be associated with the failure of the first biological at the 6th, 12th, or 24th month visits. However, at the 18th-month visit, both the average BASDAI and C-reactive protein (CRP) levels were statistically higher in patients who experienced failure with the first biological. Conclusion: The failure of the first biologicaltreatment is a rather rare situation in our study. Specific factors were notably linked to this failure and should be considered in patient management, particularly elevated BASDAI and CRP values. These factors have also been reported in the literature to be associated with first biological treatment failure, along with additional factors.

Immediate post-concussion assessment and cognitive testing Pediatric (ImPACT Pediatric) change scores and factors associated with performance in patients aged 5-9 years following concussion: Preliminary findings

Background Computerized neurocognitive testing is one component of a multidomain assessment of concussion. However, the use of computerized neurocognitive testing has been limited to patients aged 11 years and up, leaving clinicians with few options to evaluate younger children. Purpose To examine the change in Immediate Post-concussion Assessment and Cognitive Testing Pediatric (ImPACT Pediatric) (ImPACT Applications, 2021) scores and factors associated with performance in children aged 5-9 years following a concussion. Methods Participants included 63 children (42% [n = 27] female) aged 5-9 (M = 7.5 ± 1.0) years within 30 (M = 8.5 ± 5.9) days of a concussion. All participants completed the ImPACT Pediatric at their initial visit and at medical clearance for their return to activity (RTA) visit. The ImPACT Pediatric test is a computerized neurocognitive battery that includes 5 tests that assess memory and visual processing speed. Multivariate and univariate analyses of variance and paired t-tests were used to compare ImPACT Pediatric scores from the initial visit to medical clearance. Multivariate and univariate analyses of covariance and multiple linear regression examined factors associated with ImPACT Pediatric performance. Results Participants demonstrated improved overall performance from the initial visit to the medical clearance visit (F(4, 59)=3.08, p = 0.02, Wilks’ Λ = 0.83, ηp 2=0.17), with significant improvement in Rapid Processing Speed (F(1, 62)=7.48, p < 0.01, ηp 2=0.11). When controlling for age, sex, history of ADHD, and days to clinic, the improvement in overall performance remained significant (F(4, 51)=2.99, p = 0.03, Wilks’ Λ = 0.81, ηp 2=0.19). Older age was significantly associated with the Rapid Processing composite score at the initial visit (F(4, 59)=5.9, p < 0.001, Adj. R2=0.25) and medical clearance visit (F(4, 59)=3.8, p = 0.008, Adj. R2=0.16), with older children associated with better performance at both time points (Initial visit: B = 8.17, p < 0.001; Medical Clearance: B = 3.62, p = 0.03). Conclusion Our main findings suggest that children aged 5-9 years improved significantly in Rapid Processing on the ImPACT Pediatric from the initial visit to medical clearance. However, no differences were found for the memory components of the ImPACT Pediatric. Older children also performed better on processing speed than younger children. The findings suggest that the processing speed components of ImPACT Pediatric are useful for monitoring improvements in neurocognitive functioning following concussion in children aged 5-9 years, but that age differences need to be considered when interpreting performance.

One-year opioid consumption trajectories among individuals receiving multidisciplinary postsurgical care: a single-center observational study from the Toronto General Hospital Transitional Pain Service

IntroductionThe Transitional Pain Service (TPS) is an innovative, personalized approach to postsurgical opioid consumption and pain management. The objectives of this study were to identify trajectories of opioid consumption and...

EMPATHY Life in Psoriasis: Embracing Patients' Well-Being in Their Journey of Moderate-to-Severe Psoriasis.

Background: Psoriasis is a chronic inflammatory skin condition that affects millions of individuals worldwide, impacting their physical and emotional well-being. The management of psoriasis requires effective communication and a strong physician-patient relationship. Objective: We aim to develop a novel algorithm to enhance patient well-being and care in moderate-to-severe psoriasis, considering the time constraints that dermatologists have in public hospitals. Methods: This project employed a multidisciplinary approach, involving collaboration between 14 experienced dermatologists (referred to as Key Opinion Leaders: KOLs) and a psychologist. During three separate meetings (an initial virtual session, a face-to-face meeting, and a final virtual meeting), an algorithm (Embracing Patients' Well-being in their Journey of Moderate-to-Severe psoriasis: EMPATHY), describing the patient's reception through the entire first visit and follow-up visits, was developed and refined. Results: The EMPATHY algorithm provides a step-by-step approach from the moment the patient arrives at reception, through the first visit and on to subsequent visits. This algorithm fills a critical gap in the existing guidelines by specifically addressing how to foster empathy during psoriasis patient visits within time-limited consultations. The algorithm outlines patient-centered strategies at each visit. Key aspects include creating a welcoming environment, active listening, respecting privacy, tailoring communication styles, and managing patient expectations. Conclusions: The EMPATHY algorithm represents a novel and promising approach to improving patient care and well-being in moderate-to-severe psoriasis. Developed together by dermatologists and a psychologist, this algorithm offers healthcare providers practical guidance for managing both initial and follow-up patient visits. While further validation is necessary, the potential for adapting the EMPATHY algorithm to diverse healthcare settings and patient populations holds promise for improving patient outcomes across various chronic conditions.

Preserved walking function without postoperative reconstruction for pelvic Ewing’s sarcoma: a case report

BackgroundEwing’s sarcoma is a primary bone tumor predominantly observed in children and adolescents, necessitating a multidisciplinary treatment approach. While localized cases have a 5-year survival rate of 60–70%, the prognosis is significantly worse in pelvic advanced cases with metastasis. Moreover, pelvic Ewing’s sarcoma has the unique problem of leading to high rates of postoperative infection.Case presentationWe present the case of a Japanese 14-year-old boy with left iliac Ewing’s sarcoma and multiple metastases. At the initial visit, imaging revealed a large tumor in the left iliac bone with extraosseous extension and metastasis to multiple sites. Neoadjuvant chemotherapy resulted in significant tumor reduction. Surgical resection was performed without pelvic ring reconstruction to enable early postoperative chemotherapy and minimize postoperative infection risk. Despite complete abductor muscle removal, the patient achieved a stable gait postoperatively by centering the load axis.ConclusionOur case highlights the successful management of a left iliac Ewing’s sarcoma with multiple metastases, with a focus on functional preservation and infection risk reduction. Pelvic ring reconstruction was not performed to avoid postoperative complications, emphasizing the importance of early postoperative chemotherapy. The patient achieved a stable gait postoperatively, demonstrating the potential benefits of this approach in similar cases.

Early pregnancy associations with Gestational Diabetes: methods and cohort results of the Hoosier Moms Cohort

Background Gestational Diabetes (GDM) raises the risk of adverse perinatal outcomes and long-term risk of type 2 diabetes. There is currently a lack of comprehensive GDM prediction models based on more than simple clinical features. Objective The objective of this study was to collect a comprehensive set of clinical, sociodemographic, biobehavioral, and genomic features in a prospective high-risk cohort for GDM, to discover novel predictive and therapeutic targets for GDM during early pregnancy. Study design The Hoosier Moms Cohort was a prospective observational study of pregnant individuals, with a singleton gestation &lt;20 weeks. The study protocol included 2 visits during pregnancy and one at delivery. Psychosocial, dietary, social, and demographic characteristics were collected in addition to maternal and newborn samples. Developing GDM was the primary outcome. Univariate associations with GDM for continuous variables were analyzed using either two-sample t-test or Wilcoxon Rank Sum test, and categorical variables using either chi-square or Fishers exact test. Multiple logistic regression was performed for independent associations with GDM. Results A total of 411 participants were recruited, with complete data available for 391. Patients were on average 30 years of age, had a mean body mass index (BMI) of 28, and 17% were of Hispanic ethnicity. Additionally, 54% reported a family history of diabetes, with 4% reporting a personal prior history of GDM. A total of 39 participants (10.0%) developed GDM. Compared to those that did not, participants who developed GDM had a significantly higher baseline BMI (31.6 vs 27.2, p=0.003), HbA1c (5.24 vs 5.07, p&lt;0.001), triglycerides (156.8 vs 134.2, p=0.022), and random blood glucose (85.90 vs 79.96, p=0.025) at the initial visit. Those with GDM were more likely to have a prior history of gestational diabetes (28.21% vs 1.96%, p&lt;0.001), and current chronic hypertension (12.82% vs 1.9%, p=0.003). Additionally, they scored higher on a validated insomnia questionnaire (9.62 vs 7.80, p=0.028). A significant association was found between GDM and 3 previously reported genetic markers (p&lt;0.01). Individuals with high polygenic risk scores for type 2 diabetes were not more likely to have a GDM diagnosis. Through stepwise logistic regression, prior history of GDM, current diagnosis of hypertension, insomnia, and BMI were independently associated with GDM (odds ratio, 95% confidence intervals: 14.98, 4.49-50.02; 10.94, 2.32-51.69; 1.11, 1.01-1.22; 1.09, 1.03-1.16, respectively). Conclusion The Hoosier Moms Cohort identified that participants with a previous GDM diagnosis, chronic hypertension, elevated BMI, and insomnia have significantly increased odds of developing GDM in a diverse cohort of participants. These factors will be integrated into a machine learning model with multi-omics data to develop a comprehensive predictor for GDM.

Early postoperative growth hormone measurement as a predictive marker for acromegaly remission.

Growth hormone (GH) has a short half-life and declines abruptly following somatotropinoma surgery, enabling its prompt measurement as an indicator of surgical success. This study assesses the predictive value of early postoperative GH levels for 3-month and >1-year remission of acromegaly. We conducted a retrospective search in our database of patients who had undergone transsphenoidal surgery of GH-secreting pituitary adenoma from January 2011 to June 2022. Only the patients who underwent the first pituitary surgery and had GH measurements on the fifth postoperative day were included. The 3-month and >1-year remission of acromegaly was defined as achieving the GH nadir of <0.4 μg/L during an oral glucose tolerance test and maintaining normal insulin-like growth factor 1 levels at the initial follow-up visit 3 months after surgery and throughout at least the first year postoperation. We included 63 patients in the analysis, with a median follow-up of 51.8 (13-155) months. The 3-month remission was achieved in 42 (66.7%) patients, and >1-year remission without additional therapy in 38 (60.3%) patients. Those who achieved >1-year remission had significantly lower fifth-day postoperative GH levels (0.59 [0.09-8.92] vs. 2.63 [0.25-24.64] μg/L, p < .001). Receiver-operating characteristic analysis revealed a significant value of fifth-day postoperative GH levels regarding the prediction of 3-month (area under the curve [AUC], 0.834; p < .0001) and >1-year (AUC, 0.783; p < .0001) acromegaly remission. The GH threshold of ≤1.57 μg/L yielded a sensitivity of 90.5% and a specificity of 71.4% at 3 months and 89.5% sensitivity and 60% specificity at the >1-year remission, respectively. Notably, all patients with fifth-day postoperative GH levels ≤0.23 μg/L exhibited remission of acromegaly throughout the follow-up period. Early postoperative GH measurement could be a reliable predictor of both 3-month and >1-year remission of acromegaly.

The Role of Risk Tolerance in a Patient’s Decision to Undergo Total Knee and Hip Arthroplasty

BackgroundA patient’s decision-making process to undergo surgery is crucial for surgeons to understand for patient-counseling purposes. Total knee and hip arthroplasty, like any other major surgery, is associated with serious, sometimes life-threatening, complications. Using the results of discrete choice experiments (DCEs), we aimed to understand the relationship between a patient’s risk tolerance and choosing to undergo surgery in real life. MethodsThis is a retrospective study of prospectively collected DCE results for 142 potential knee or hip arthroplasty clinic patients from October 2021 to March 2022. The DCE presented the patient with 2 scenarios, each of which was made up of different combinations of attributes and levels. A hierarchal Bayesian model was used to obtain a risk score that reflected the risk attributes chosen by each patient. Logistic regressions were then used to evaluate the association between a patient’s willingness to incur risk and their decision to undergo a total joint arthroplasty. ResultsOf the 142 patients enrolled in the DCE, 89 (62.3%) underwent a total joint arthroplasty. Risk score (odds ratio [OR] = 2.6, 95% confidence interval [CI] 1.1 to 6.6, P = 0.04), men (OR = 2.5, 95% CI 1.1 to 5.9, P = 0.028), and patients who have hip osteoarthritis (OR = 2.4, 95% CI 1.1 to 5.5, P = 0.036) increased the odds of undergoing arthroplasty, whereas physical function of at least 75% at the initial visit (OR = 0.3, 95% CI 0.1 to 0.7, P = 0.004) decreased these odds. ConclusionsWe found that a patient’s willingness to incur risk, lower baseline physical function, and men were all independently associated with undergoing total knee arthroplasty. We believe that these findings prompt much-needed future studies that focus solely on the relationship between patients’ inherent risk behavior and surgical and patient-reported outcomes.

Healthcare utilization in patients with head and neck lymphatic malformations with the introduction of sirolimus

ObjectivesHistorically, head and neck lymphatic malformations (HNLM) have been managed through surgical and interventional procedures. Sirolimus was introduced in 2016 and has aided in symptomatic control of HNLM. The study objective was to assess healthcare utilization with the introduction of sirolimus for HNLM. MethodsAn observational cohort study of LM patients treated between 2008 and 2022 at a tertiary care children's hospital was performed. 588 charts were reviewed; patients with isolated, non-syndromic HNLM and at least 2 years of follow-up were included (n = 45). Data included sirolimus use, complications, presence of tracheostomy and/or gastrostomy-tube, and number and costs of HNLM-related sclerotherapies, procedures, hospitalizations, and emergency room visits. For patients who received sirolimus, encounters two years prior to and after sirolimus initiation were recorded. For the non-sirolimus group, encounters two years after the initial clinic visit for HNLM were recorded. Statistical analysis was used to compare the groups. ResultsMedian age at first clinic visit was 1.8 years (range 2 days–41 years). Tracheostomy was present in 43 % of sirolimus patients compared with 3 % of the non-sirolimus group (OR: 24.0, 95%CI: 1.55–1490, p = 0.02). Patients on sirolimus experienced significantly fewer sclerotherapy visits (z = 2.08, p = 0.03) compared to the non-sirolimus group. Minimal sirolimus-related side effects were reported. Total HNLM-related costs were significantly less in the sirolimus group during treatment (median $448.13, range $0–$7041.28) compared with before treatment (median $17,069.24, range $1999.16–$211,848.50, z = 2.20, p = 0.03). Median costs associated with sclerotherapy were less for the sirolimus groups during treatment compared with the non-sirolimus group (z = 1.97, p = 0.04). In the sirolimus group, costs associated with HNLM-related hospitalizations were significantly less during sirolimus treatment compared with before (z = 2.20, p = 0.03). ConclusionSirolimus has improved the clinical course for HNLM patients by decreasing number of procedures and healthcare costs, with limited side effects. Larger cohorts matching type of HNLM and age are needed to assess healthcare utilization benefits of sirolimus.

Acceptability and feasibility of video-based firearm safety education in a Colorado emergency department for caregivers of adolescents in firearm-owning households

BackgroundEasy firearm access increases injury risk among adolescents. We evaluated the acceptability and feasibility of improving knowledge of a 3 min safe firearm storage education video in the paediatric emergency...

Time to initiate anti-vascular endothelial growth factor therapy and visual outcome in central retinal vein occlusion

This retrospective study aimed to investigate the progression of central retinal vein occlusion (CVO) prior to treatment initiation and its impact on prognosis. Of the 54 studied eyes with acute CVO, the average logMAR visual acuity (VA) at the initial visit was 0.65 ± 0.49 with an average time to treatment of 14.9 ± 14.5 days. VA at the initial treatment was identified as a stronger predictor of VA at the final visit compared to VA at the first visit or other factors. Patients who received treatment more than 28 days after the initial visit experienced a significant decline in VA compared to those treated within 28 days (0.21 ± 0.35 vs. 0.04 ± 0.13, p = 0.006). Additionally, patients who were treated between 15 and 28 days showed a greater decrease in VA compared to those treated within 14 days (0.12 ± 0.46 vs. 0.018 ± 0.02, p = 0.026). These findings from the current retrospective analysis suggesting that there is a possibility of VA decline at the initial treatment associating with worse prognosis even when treatment is administered within a month should be further investigated in the prospective study. Also, it may be crucial to consider frequent monitoring of acute CVO patients for initiating treatment at the optimal timing.

The Association between the Substitution of Red Meat with Legumes and the Risk of Primary Liver Cancer in the UK Biobank: A Cohort Study.

Primary liver cancer is globally on the rise, partially due to poor diets and sedentary lifestyles. Shifting to more plant-based diets may lower the risk. We aimed to estimate the effect of replacing total red meat, unprocessed red meat and processed red meat with legumes on primary liver cancer in a free-living population. We analyzed data from 126,744 UK Biobank participants who completed ≥ two 24 h diet recalls. Baseline characteristics were collected from the initial assessment visit. Information on liver cancer diagnoses was collected via external linkage to inpatient hospital episodes or central cancer registries. Cox proportional hazards regression models were used to estimate the substitution of 15 g/day of legumes with 15 g/day of total red meat, unprocessed red meat or processed red meat on liver cancer risk, using the leave-one-out food substitution model. During a median follow-up time of 11.1 years, 173 participants developed liver cancer. In the fully adjusted models, no association was observed when substituting 15 g/day of legumes with total red meat (HR: 1.02 (95% CI 0.96-1.08)), unprocessed red meat (HR: 1.00 (95% CI 0.94-1.06)) or processed red meat (HR: 1.09 (95% CI 0.99-1.21)). Overall, little evidence of an association between replacing red meat with legumes and liver cancer was observed. Further research in other study populations with longer follow-up time is warranted.

A differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report

Background17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and primary infertility, but a definite protocol to treat the disorder has not been determined yet.Case presentationCase I presents a 24-year-old Caucasian Israeli-Arab female who experienced 6 years of infertility. Before her initial visit to our clinic, she underwent three laparoscopic ovarian cystectomies, had an unsuccessful in vitro fertilization cycle, and was treated with combined oral contraceptives. Her hormonal profile was tested, and the results led to genetic counseling and the diagnosis of non-classical congenital adrenal hyperplasia. She was treated with estradiol, glucocorticoids, and transdermal testosterone. After hormonal levels were lowered, in vitro fertilization cycles were initiated, and the patient had a spontaneous ovulation. In case II, a 20-year-old Caucasian Israeli-Arab female presented for infertility evaluation owing to her oligomenorrhea. Her vitals and physical examination had normal results. The investigation of her abnormal hormonal profile led her to be referred to genetic testing, where the results showed the same genetic mutation as seen in case I.ConclusionBoth cases highlight the distinctiveness of the condition, where an identical mutation in the gene responsible for the same enzyme can bring about diverse phenotypes. Case I offers a potential treatment protocol for this rare disorder.

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.

Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting in progressive symmetrical weakness and atrophy of the proximal voluntary muscles. Approximately 95% of SMA patients present with homozygous deletion of the SMN1 gene. With multiple available therapies preventing symptom development and slowing disease progression, newborn screening for SMA is essential to identify at-risk individuals. From 2018 to 2023, a total of 239,844 infants were screened. 13 positive screens were confirmed to have SMA. An additional case was determined to be a false positive. We are not aware of any false-negative cases. All patients were seen promptly, with diagnosis confirmed within 1 week of the initial clinical visit. Patients were treated with nusinersen or onasemnogene abeparvovec. Treated patients with two copies of SMN2 are meeting important developmental milestones inconsistent with the natural history of type 1 SMA. Patients with 3-4 copies of SMN2 follow normal developmental timelines. Newborn screening is an effective tool for the early identification and treatment of patients with SMA. Presymptomatic treatment dramatically shifts the natural history of SMA, with most patients meeting appropriate developmental milestones. Patients with two copies of SMN2 identified through newborn screening constitute a neurogenetic emergency. Due to the complexities of follow-up, a multidisciplinary team, including close communication with the newborn screening program, is required to facilitate timely diagnosis and treatment.

Efficacy of Activity Trackers in Patients With Heart Failure With Preserved Ejection Fraction.

Heart failure with preserved ejection fraction (HFpEF) is a common, complex syndrome associated with elevated morbidity and mortality. Patients with HFpEF have a high prevalence of comorbidities, including hypertension, diabetes mellitus, and obesity, which are closely related to the underlying mechanisms of the disease. Lifestyle modification with weight loss and physical activity can improve risk factors and functional outcomes in HFpEF. We sought to observe daily physical activity and determine whether utilizing an activity tracker can enhance functional status in HFpEF patients. We performed a prospective analysis of 57 patients with HFpEF from 2021 to 2023 at a single academic medical center who utilized a Fitbit to record one year of daily step activity. The patients were evaluated in the ambulatory setting for an initial visit and subsequently at intervals of 3, 6, and 12 months to gather vitals, labs, physical exam, and functional measurements, including the Six-Minute Walk Test (6MWT) and Kansas City Cardiomyopathy Questionnaire-12 (KCCQ-12). Associations between variables were assessed using Pearson's r correlation using Stata 18.0. Of the 49 patients who completed the study, the mean age was 68.1 ± 10.2 years, with 67% of patients identifying as female. The average BMI was 36.4 ± 8.6 kg/m2. Across each time interval, the median numbers of steps per day were 4,113 (2,517-6,520) (1-3 months), 4,583 (2,532-6,326) (4-6 months), and 3,957 (2,942-5,982) (7-12 months). There was no statistically significant variation in daily step count (p=0.06). We observed a statistically significant increase of 66 (6-200) feet in the 6MWT (p= 0.002) from baseline (1,175 (910-1,400)) to 12 months (1,321 (1,000-1,550)). The daily step count was highly correlated with the 6MWT across all time points (1-3 months: r= .70, p< .001; 4-6 months: r= .61, p< .001; 7-12 months: r= .69, p< .001).The total KCCQ-12scores increased by 6.8 (-4.2-19.8) points (p=0.005) from baseline (60.1 (41.7-73.4)) to 12 months (69.8 (50-84.4)). Among the sub-categories of the questionnaire, we observed a positive correlation between physical limitation scores and daily step count (1-3 months: r= .47, p=.001; 4-6 months: r= .63, p< .001; 7-12 months: r= .56, p= .001). Of interest, one patient who was taking over 15,000 daily steps scored their physical limitation 10-20 points lower than those taking less than half the steps and had one of the lowest quality of life scores in the cohort, reflecting the subjective nature of heart failure (HF) symptoms. Fitbit technology offers a convenient means to monitor real-time physical activity in patients with HFpEF. Utilizing a Fitbit to record daily step activity enhances health-related quality of life in this population. In contrast to the improved average total KCCQ-12 score, we did not observe a clinically significant increase in the 6MWT over the course of the year. Our findings establish the utility of daily step count as a valuable surrogate for six-minute walk distance.