Medical Chart Review Research Articles

Clinical Outcomes of Patients With Gastric Phytobezoars: Implication of Drinking Carbonated Beverages as a Treatment

Objectives: Although phytobezoars are the most common type of gastric bezoar, a standardized treatment method has not been adopted.Methods: In this study, we evaluated patient clinical features and treatment outcomes following the use of different treatment methods, with a focus on the efficacy of carbonated beverage consumption. A review of medical charts and endoscopic reports revealed 15 cases of gastric phytobezoars from September 2008 to May 2016. Patient medical records were retrospectively reviewed to assess patient clinical characteristics and treatment results.Results: The mean patient age was 71.3±11.1 years. The most common symptoms were epigastric pain (46.7%) and bloating (40.0%). A history of intra-abdominal surgery was found in 26.7% of the patients. The mean bezoar size was 47.3±14.5 mm. The final successful treatment methods were consumption of a carbonated beverage alone (n=7, 46.7%), endoscopic removal (n=5, 33.3%), and surgery (n=3, 20.0%). During the treatment course, few patients (3/15, 20.0%) experienced small bowel obstructions after the consumption of the carbonated beverage and endoscopic fragmentation; these obstructions required surgical interventions. There was no significant difference in the baseline characteristics between patients successfully or unsuccessfully treated with the carbonated beverage.Conclusions: Most patients presenting with gastric phytobezoars can be successfully treated by consuming carbonated beverages in conjunction with endoscopic therapy. However, small bowel obstructions may occur due to the migration of a fragmented bezoar, necessitating surgical intervention.

The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.

Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagnostic approaches to identify genetic causes. The aim of our study was to evaluate the diagnostic yield of CMA and NGS in a cohort of neonates with both isolated and syndromic CHD. The present study included 188 infants under 28 days of age with abnormal echocardiography findings hospitalized at the Department of Neonatology, UMC Ljubljana, between January 2014 and December 2023. Phenotypic data were obtained for each infant via retrospective medical chart review. We established the genetic diagnosis of 22 distinct syndromes in 17% (32/188) of neonates. The most frequent genetic diagnoses in diagnosed cases were 22q11.2 microdeletion and CHARGE syndromes, followed by Noonan syndrome and Williams syndrome. In addition, we detected variants of uncertain significance in 4.8% (9/188) of neonates. Timely genetic diagnosis is important for the detection of syndrome-related comorbidities, prognosis, reproductive genetic risks and, when appropriate, genetic testing of other family members.

Female Victims of Firearm Intimate Partner Violence: Characterization and Lethality Predictors.

Objective: To characterize the sociological risk factors for firearm intimate partner violence (IPV) among women in Texas, with a focus on lethal predictors to aid in screening and intervention guidelines. Methods: A retrospective medical and forensic chart review was conducted and supplemented by news sources, public police reports, and court records on firearm cases in Houston, TX, from 2018 to 2020. IPV was defined as a cis-gendered female victim of firearm violence from a current or ex-intimate partner. Non-IPV was defined as cis-gendered female victims of firearm violence from strangers, friends/acquaintances, gang, client, or similar relationships. Numeric variables were compared using the Wilcoxon rank-sum test and reported as median [Q1, Q3]. Categorical variables were compared using Fisher's exact test and reported as count (%). Results: A total of 102 cases of IPV were identified. Nonspousal IPV was more prevalent than spousal (65.7% versus 34.3%). Lethal injuries, older age, home location, and head injuries were more prevalent in the IPV cohort. Older age, spousal perpetrator, home shooting location, and history of prior domestic abuse were associated with lethal IPV. There were 31 cases of murder-suicide. During the COVID-19 pandemic, IPV cases increased by 91.3%, with lethal cases increasing by 57.6%. Conclusion: Risk factors for overall IPV and lethal IPV are not the same; therefore, it is imperative that all women, irrespective of race, age, or relationship status, be screened for IPV and prior domestic violence to allow intervention and prevention of lethal IPV. Patients should also be screened for personal or partner access to firearms as firearm IPV is a highly lethal form of violence.

Investigation of health care use and a possible prodrome before the first attack in NMOSD and MOGAD

Background: Prodromal phases are well recognized in many inflammatory and neurodegenerative diseases, including multiple sclerosis. We evaluated the possibility of a prodrome in aquaporin-4 antibody positive (AQP4+) neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) using health administrative data. Methods: We investigated individuals with AQP4 + NMOSD and MOGAD, confirmed by medical chart review, in Ontario, Canada. Each NMOSD and MOGAD participant was matched 1:5 to general population controls by sex, birth year, immigrant status, and region. Total outpatient visits and hospitalizations were compared in the 5 years preceding the incident attack in multivariable negative binomial models. Results: We identified 96 people with AQP4 + NMOSD, matched to 479 controls, and 61 people with MOGAD, matched to 303 controls. In the 5 years preceding the incident attack, health care use was elevated for outpatient visits and hospitalizations for the NMOSD cohort (adjusted rate ratio (aRR): 1.47; 95% confidence interval (CI): 1.25–1.73; aRR: 1.67; 95% CI: 1.19–2.36, respectively) but not for MOGAD. Rate ratios steadily increased in NMOSD for outpatient visits in the 2 years preceding the incident attack. Conclusion: Our findings support a prodromal phase preceding clinical onset of AQP4 + NMOSD. Earlier recognition and management of NMOSD patients may be possible.

Significance of serological atrophic gastritis on proton pump inhibitor prescriptions and referrals to gastroscopy in the general population.

We aimed to investigate whether individuals with low pepsinogen I levels differed from those with normal pepsinogen I levels in terms of proton pump inhibitors (PPIs) use, referral to gastroscopy, and findings on gastroscopy. Serum pepsinogen I was measured in 518 persons (mean age 51.6, SD 8.8; 49% women). A medical chart review focused on PPI prescriptions and gastroscopic findings in the follow-up period. Patients with serological atrophic gastritis (pepsinogen I < 28 μg/L) had higher body mass index (27.5 vs 26.2 kg/m2; P = 0.007), were less likely to be current smokers (8% vs 17%; P = 0.025), and had higher prevalence of Helicobacter pylori seropositivity (57% vs 36%; P < 0.001) compared with those without. During follow-up (mean 21.4 years, SD 6.5 years), the patients with serological atrophic gastritis had more often findings of atrophic gastritis or gastric polyps on gastroscopy (20% vs 8%; P < 0.001), despite no differences in the mean number of gastroscopies per 1000 person-years (33 vs 23; P = 0.19) and the mean prescribed PPI dose (omeprazole equivalents) per year (1064 mg vs 1046 mg; P = 0.95). Persons with serological atrophic gastritis had lower odds of being prescribed PPIs at least once (odds ratio [95% confidence interval]: 0.58 [0.35-0.96]), but there was no significant difference in the chance of being referred to gastroscopy at least once (1.15 [0.70-1.96]). Persons with serological atrophic gastritis were less likely to be prescribed PPIs. Persons with serological atrophic gastritis had more often gastric polyps and atrophic gastritis when referred to gastroscopy.

A Comprehensive Characterization of Patients with Spinal Cord Neurosarcoidosis: A Single Center Cross-Sectional Study of Clinical Outcomes.

Background/Objective: To describe the clinical features and radiological outcomes of patients with spinal cord neurosarcoidosis, treatments, and long-term follow-up for this rare disorder. Methods: A cross-sectional, retrospective medical chart review was performed for all patients with spinal cord neurosarcoidosis treated at a single center between 01/1995 and 12/2020. Radiological imaging, laboratory test results, the type of immunosuppressive therapy, and function test scores were reviewed. Results: We assessed 39 patients with spinal cord neurosarcoidosis (23 men, 16 women, mean age at presentation 46.4 years, SD 10.2 years). The mean (SD) duration of spinal cord neurosarcoidosis at data abstraction was 9.8 (6.3) years. There were 24 patients (62%) with extensive intramedullary lesions, 8 (21%) with multiple patchy intramedullary lesions, 12 (31%) with leptomeningeal involvement, and 7 (18%) with nerve root enhancement. The cervical spine was the most commonly affected region in 33 patients (85%). The most common presenting symptoms were paresthesia/neuropathic pain in 20 (51%) and weakness of extremities in 15 (38%) patients. Most patients (n = 37; 95%) had been treated with corticosteroids at symptom onset, and methotrexate was the most used immunosuppressive therapy (n = 19; 49%). Of 34 patients with follow-up magnetic resonance imaging (MRI) available, the median time to improvement per MRI was 10.8 months (95% CI, 6.1-17.0 months). Of 31 patients with MRI enhancement at presentation, 18 (58%) had complete enhancement resolution at follow-up, with a median time to resolution of 51.8 months (95% CI, 24.9-83.4 months). Patients had significantly lower pyramidal (p = 0.004) and sensory functional (p = 0.031) systems scores from presentation to the last clinic visit. Conclusions: Because spinal cord neurosarcoidosis is challenging to diagnose and no set treatment guidelines exist, clarifying patients' clinical parameters and responses to various treatments is needed to improve timely and efficient care. The incidence of spinal cord involvement in sarcoidosis in our cohort was higher than intracranial involvement and most patients had a long extensive intramedullary lesion. We also observed that most patients with spinal cord neurosarcoidosis improved clinically and radiologically after treatment; however, the resolution of MRI enhancement after immunosuppressive therapy may take years. Prospective studies of neurosarcoidosis will be crucial to address questions about effective treatment and long-term prognosis.

Medication adherence and associated factors among chronic heart failure patients on follow-up in north Shewa public hospitals, Oromia region, Ethiopia

BackgroundChronic heart failure affects approximately 26 million people globally. World Health Organization data show that only approximately half of chronically ill patients in developed countries adhere to recommended medication, with even lower rates in developing countries. Medication adherence is critical for managing chronic heart failure symptoms, delaying disease progression, and preventing hospitalizations. However, poor adherence increases rehospitalization, morbidity, mortality, and healthcare costs.ObjectiveTo assess medication adherence and associated factors among chronic heart failure patients on follow-up at North Shewa Public Hospitals, Oromia Region, Ethiopia, in 2023.MethodsThis institutional-based cross-sectional study was conducted from March 1 to April 30, 2023, G.C. A total of 603 individuals were selected consecutively among those who underwent chronic OPD after being proportionally allocated to five hospitals in the zone. The data were collected using an interviewer-administered questionnaire and a medical chart review. The data were entered into Epi-data version 3.1 and then exported to SPSS version 26 for analysis. The multivariable logistic regression model included variables with a P value < 0.25 in the bivariate analysis. The degree of association was expressed using an adjusted odds ratio (AOR) with a 95% confidence interval (CI) at a P value < 0.05.ResultsAmong the 603 patients, 56% had optimal medication adherence, with a 95% CI of 52.1 to 60. Being able to read and write (AOR: 2.20; 95% CI: 1.34, 3.61), having a secondary education (AOR: 1.97; 95% CI: 1.06, 3.67), having community-based health insurance (AOR: 1.82; 95% CI: 1.22, 2.71), not having comorbidities (AOR: 1.82; 95% CI: 1.18, 2.52), taking several drugs < 2 (AOR: 2.11; 95% CI: 1.20, 2.45), not adding salt when cooking (AOR: 1.72; 95% CI: 1.20, 2.45), and asking a doctor or nurse without fear (AOR: 1.87; 95% CI: 1.03, 3.40) were factors associated with medication adherence among CHF patients.ConclusionThis study revealed that 56% of chronic heart failure patients had optimal medication adherence. Factors associated with higher adherence included higher education, community health insurance, lack of comorbidities, fewer medications, avoiding added salt, and comfortable communication with providers. Health professionals should provide education to strengthen medication adherence.

Dimensional changes in free gingival grafts at implant sites in the reconstructed mandible: a retrospective study.

To evaluate the dimensional changes in free gingival grafts (FGG) at implant sites in mandibular reconstruction patients. Patients who received FGG 4 months after implant placement in the reconstructed mandible with no keratinized mucosa (KM) present were invited for re-examination after 36.7 ± 16.8 months (3.06 ± 1.4 years). Immediately after graft extraction (T0), graft width (GW), graft length (GL), graft thickness (GT), graft dimension (GD), and vertical bone height were documented. Re-examination (T1) included clinical examinations (GW, GL, GD, peri-implant probing depths, and modified Sulcus Bleeding Index), radiographic examination (marginal bone level), and medical chart review. Twenty patients and 62 implants (47 in fibula flaps and 15 in iliac flaps) were included. A significant decrease in GW (51.8%), GL (19.2%), and GD (60.2%), were found between T0 and T1 (p < .001). The univariate analysis showed that GW change was not significantly associated with reconstruction technique, baseline GL, baseline GT, baseline GD, implant location, or type of prosthesis. Implant survival rate of 100% was observed at follow-up. Within the limitations of the study, free gingival grafts at implant sites in the reconstructed mandible undergo dimensional change that result in a reduction of approximately 60% of the original graft dimension. Graft width decreased over 50%. FGG is the standard of care intervention for increasing the amount of KM around implants. This study was the first to evaluate the dimensional change in FGG at implant sites in mandibular reconstruction patients after a medium-term follow-up. Clinical trial registration is not applicable as this study comprehends a retrospective analysis.

Medical Chart Review to Explore Suicidal and Self-Harm Thoughts and Behavior Among Psychiatric Inpatients.

Suicide and self-harm events are elevated in psychiatric inpatient populations. In this study, health data were retrospectively collected from the medical records of 183 patients (97 civil and 86 forensic) who had resided in, or been admitted to, a public psychiatric hospital in Saskatchewan, Canada from April 1 to December 31, 2021. Descriptive and inferential analyses were conducted to estimate prevalence and correlates of (non-fatal) suicide and self-harm events, including recent and lifetime occurrences, according to patients' health information. Nearly two-thirds (62%) of patients had any record of non-fatal suicide or self-harm events, including a lifetime history of self-harm (42%) and suicidal behavior (37%) as well as recent self-harm (24%) and suicidal (31%) thoughts or behaviors. Forensic patients were significantly more likely to have a record of suicide and self-harm events. This study emphasizes the need for further research into the course of suicidality and self-harm in psychiatric inpatients.

Imiquimod for the treatment of oral leukoplakia: A two-center retrospective study.

We aimed to assess the effectiveness of the use of topical imiquimod for the management of oral leukoplakia (OL). This was a retrospective study. Medical chart reviews were conducted to identify patients with biopsy-proven OL treated with topical 5% imiquimod. Data included OL characteristics, histopathological diagnosis, treatment outcome, and adverse events (AEs). Treatment response was assessed by measuring the percentage reduction in the size of OL lesions. 33 patients (51.5% females; median age: 65 years) with 38 lesions were included. OLs were either localized (23.7%) or multifocal lesions (76.3%), with the majority on the gingiva (86.8%). Pretreatment histopathological diagnoses were dysplasia in 84.2% and nonreactive hyperkeratosis in 15.8%. Most regimens consisted of 60-minute applications, 5-days-a-week, for 6 weeks. At the end of treatment, 81.6% of 38 lesions showed a reduction in size with 68.4% exhibiting ≥50% reduction in size, and 42.1% exhibiting complete resolution. Application site reactions were the most common with pain/soreness/sensitivity occurring in 86.8%. Fatigue was the most frequently reported systemic AE (28.9%). Two-thirds of OL lesions had ≥50% reduction in size. Most AEs were temporary and resolved upon treatment discontinuation. Prospective studies are needed to further assess Imiquimod's effectiveness in OL management.

Improving Malnutrition Screening among Hemodialysis Patients.

Individuals receiving hemodialysis are at increased risk of malnutrition; however, regular diagnosis of malnutrition using subjective global assessment (SGA) is time-consuming. This study aimed to determine whether the Canadian Nutrition Screening Tool (CNST) or the Geriatric Nutrition Risk Index (GNRI) screening tools could accurately identify hemodialysis patients at risk for malnutrition. A retrospective medical chart review was conducted for in-centre day shift hemodialysis patients (n = 95) to obtain the results of the SGA assessment and the CNST screener and to calculate the GNRI score. Sensitivity and specificity analyses showed only a fair agreement between the SGA and CNST (sensitivity = 20%; specificity 96%; κ = .210 (95% CI, -0.015 to .435), p < .05) and between the SGA and GNRI (sensitivity = 35%; specificity = 88%; κ = .248 (95% CI, .017 to .479), p < .05). There was no significant statistical difference between the accuracy of either tool in identifying patients at risk of malnutrition (p = .50). The CNST and GNRI do not accurately screen for risk of malnutrition in the hemodialysis population; therefore, further studies are needed to determine an effective malnutrition screening tool in this population.

Missing Ethnicity and Language Information in Healthcare Records of Patients from the Asian Diaspora.

The electronic health record (EHR) should contain information to support culturally responsive care and research; however, the widely used default "Asian" demographic variable in most US social systems (including EHRs) lacks information to describe the diverse experience within the Asian diaspora (e.g., ethnicities, languages). This has a downstream effect on research, identifying disparities, and addressing health equity. We were particularly interested in EHRs of autistic patients from the Asian diaspora, since the presence of a developmental diagnosis might call for culturally responsive care around understanding causes, treatments, and services to support good outcomes. The aim of this study is to determine the degree to which information about Asian ethnicity, languages, and culture is documented and accessible in the EHR, and whether it is differentially available for patients with or without autism. Using electronic and manual medical chart review, all autistic and "Asian" children (group 1; n = 52) were compared to a randomly selected comparison sample of non-autistic and "Asian" children (group 2; n = 50). Across both groups, manual chart review identified more specific approximations of racial/ethnic backgrounds in 54.5% of patients, 56% for languages spoken, and that interpretation service use was underestimated by 13 percentage points. Our preliminary results highlight that culturally responsive information was inconsistent, missing, or located in progress notes rather than a central location where it could be accessed by providers. Recommendations about the inclusion of Asian ethnicity and language data are provided to potentially enhance cultural responsiveness and support better outcomes for families with an autistic child.

Evaluating the effects of digital stromal vascular fraction injections in systemic sclerosis patients: a retrospective study

ObjectiveManaging hand symptoms in patients with systemic sclerosis is difficult, and the current treatments often provide only limited relief of. In 2014 a new treatment for theses patients was proposed for improving hand function, namely the digital injection of adipose tissue derived stem cells.MethodsFrom 2015 to 2017 seven systemic sclerosis patients with an impaired hand function were treated with the aforesaid injections. A medical chart review was performed to collect pre- and postoperative patient specific data.ResultsOur findings indicated no significant improvement in nailfold capillaroscopic measurements or in the healing of preexisting digital ulcers. Additionally, patients reported a slight worsening in hand function after the treatment. However, we observed a decrease in the modified Rodnan skin score, which measures skin thickness Although previous research has verified the safety and feasibility of this treatment, we found no definitive evidence of its effectiveness.ConclusionOur results suggest that the specific conditions under which this treatment could be beneficial need to be identified through randomized controlled trials involving larger groups of patients.Level of Evidence:Level IV, therapeuticstudy.

Real-World Treatment Patterns in Patients With Metastatic Castration-Resistant Prostate Cancer in Greece: The PROSPECT Study

IntroductionReal-world data on management of metastatic castration resistant prostate cancer (mCRPC) with novel therapies is sparse. The aim of this study was to capture real-world management strategies in patients with mCRPC who initiated first line (1L) systemic therapy with chemotherapy or novel hormonal agents (NHAs) in Greece and describe the therapeutic sequencing strategy among patients who advanced to 2L and 3L treatment. Patients and MethodsIn this noninterventional, multicentre, retrospective study (PROSPECT), a medical chart review of 149 patients with mCRPC who initiated 1L systemic therapy with chemotherapy or NHAs in 7 major anticancer hospital clinics, from public, academic, and private sectors in Greece was conducted. All endpoints were descriptively analysed. Kaplan–Meier was used for time-to-event outcomes. ResultsAt 1L (N = 149), most (78.5%) patients received NHAs; enzalutamide (52.3%), and abiraterone (26.2%). At 2L (N = 68), most (72.1%) patients received chemotherapy, most frequently docetaxel (50.0% of all patients). At 3L (N = 32), 56.3% and 31.3% of patients received chemotherapy and NHAs, respectively. Regarding treatment sequencing from 1L→2L (N = 68), most patients (55.9%) advanced from NHA→chemotherapy. Regarding treatment sequencing from 1L→2L→3L (N = 32), 34.4% advanced from NHAs→chemotherapy→chemotherapy and 31.3% from NHAs→chemotherapy→NHA. Estimated median times spent on treatment at 1L, 2L, and 3L were 9.8, 4.4, and 3.7 months, respectively. ConclusionMost patients were treated with 1L NHAs, in accordance to established guidelines (which suggest both NHA and chemo as preferred 1st line options). There appeared to be a longer time on treatment of NHAs at 1L than chemotherapy, suggesting an unmet need for treatment optimisation/recommendations for 2L and 3L treatment in mCRPC.

Unsupervised Machine Learning inCountermovement Jump andIsometric Mid-Thigh Pull Performance Produces Distinct Combat andPhysical Fitness Clusters inMale andFemale U.S. Marine Corps Recruits.

Several challenges face the U.S. Marine Corps (USMC) and other services in their efforts to design recruit training to augment warfighter mobility and resilience in both male and female recruits as part of an integrated model. Strength and power underpin many of the physical competencies required to meet the occupational demands one might face in military. As the military considers adopting force plate technology to assess indices of strength and power, an opportunity presents itself for the use of machine learning on large datasets to deduce the relevance of variables related to performance and injury risk. The primary aim of this study was to determine whether cluster analysis on baseline strength and power data derived from countermovement jump (CMJ) and isometric mid-thigh pull (IMTP) adequately partitions men and women entering recruit training into distinct performance clusters. The secondary aim of this study is then to assess the between-cluster frequencies of musculoskeletal injury (MSKI). Five hundred and sixty-five males (n = 386) and females (n = 179) at the Marine Corps Recruit Depots located at Parris Island and San Diego were enrolled in the study. Recruits performed CMJ and IMTP tests at the onset of training. Injury data were collected via medical chart review. Combat fitness test (CFT) and physical fitness test (PFT) results were provided to the study team by the USMC. A k-means cluster analysis was performed on CMJ relative peak power, IMTP relative peak force, and dynamic strength index. Independent sample t-tests and Cohen's d effect sizes assessed between-cluster differences in CFT and PFT performance. Differences in cumulative incidence of lower extremity %MSKIs were analyzed using Fisher's exact test. Relative risk and 95% confidence intervals (CIs) were also calculated. The overall effects of cluster designation on CMJ and IMTP outcomes ranged from moderate (relative peak power: d = -0.68, 95% CI, -0.85 to -0.51) to large (relative peak force: d = -1.69, 95% CI, -1.88 to -1.49; dynamic strength index: d = 1.20, 95% CI, 1.02-1.38), indicating acceptable k-means cluster partitioning. Independent sample t-tests revealed that both men and women in cluster 2 (C2) significantly outperformed those in cluster 1 (C1) in all events of the CFT and PFT (P < .05). The overall and within-gender effect of cluster designation on both CFT and PFT performance ranged from small (d > 0.2) to moderate (d > 0.5). Men in C2, the high-performing cluster, demonstrated a significantly lower incidence of ankle MSKI (P = .04, RR = 0.2, 95% CI, 0.1-1.0). No other between-cluster differences in MSKI were statistically significant. Our results indicate that strength and power metrics derived from force plate tests effectively partition USMC male and female recruits into distinct performance clusters with relevance to tactical and physical fitness using k-means clustering. These data support the potential for expanded use of force plates in assessing readiness in a cohort of men and women entering USMC recruit training. The ability to pre-emptively identify high and low performers in the CFT and PFT can aid in leadership developing frameworks for tailoring training to enhance combat and physical fitness with benchmark values of strength and power.

Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.

This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes. We performed a single-center cross sectional data collection along with retrospective medical chart review in patients with a genetic diagnosis of CLN7. This study received ethical approval by the University of Texas Southwestern Medical Center Institutional Review Board. A total of 8 patients were included between the ages of 4 to 6 years. All patients had a genetic diagnosis of CLN7 with homozygous or compound heterozygous mutations in the MFSD8 gene. The information collected includes patient demographics, developmental history, neurological events including seizures and neurodevelopmental regression along with further evaluation of brain magnetic resonance imaging and electrophysiological findings. The clinical phenotype is described through cross sectional and retrospective data collection and standardized tools assessing quality of life and functional skills. Our findings in this cohort of CLN7 patients indicated that development is initially normal with onset of clinical symptoms as early as two years of age. Language problems were noted prior to or at the onset of seizures in all cases. Gait problems were noted prior to seizure onset in 3 of 8 patients, and at or within 6 months after the onset of seizures in 5 of 8 patients. All patients followed a progressive course of language, motor, and neurocognitive deterioration. Congruent with the medical history, our patients had significantly low scores on adaptive abilities. Natural history data such as this can be used to support future clinical trial designs.

Altered fronto-limbic-motor response to stress differs between functional and epileptic seizures in a TBI model

Background and ObjectivesPsychogenic nonepileptic (functional) seizures (FS) clinically resemble epileptic seizures (ES) with both often preceded by traumatic brain injury (TBI). FS and ES emergence and occurrence after TBI may be linked to aberrant neurobehavioral stress responses. We hypothesized that neural activity signatures in response to a psychosocial stress task would differ between TBI + FS and TBI + ES after controlling for TBI status (TBI-only). MethodsIn the current multicenter study, participants were recruited prospectively from Rhode Island Hospital, Providence Rhode Island Veterans Administration Medical Center, and the University of Alabama at Birmingham Medical Center. Previous diagnoses of TBI, ES, and FS were verified based on data collected from participants, medical chart and record review, and, where indicated, results of EEG and/or video-EEG confirmatory diagnosis. TBI + ES (N = 21) and TBI + FS (N = 21) were matched for age and sex and combined into an initial group (TBI + SZ; N = 42). A TBI-only group (N = 42) was age and sex matched to the TBI with seizures (TBI + SZ) group. All participants completed an fMRI control math task (CMT) and stress math task (SMT) based on the Montreal Imaging Stress Task (MIST). ResultsThe TBI + SZ group (n = 24 female) did not differ in mood or anxiety severity compared to TBI-only group (n = 24 female). However, TBI + FS group (n = 11 female) reported greater severity of these symptoms compared to TBI + ES (n = 13 female). The linear mixed effects analysis identified neural responses that differed between TBI-only and TBI + SZ during math performance within the left premotor cortex and during auditory feedback within bilateral prefrontal cortex and hippocampus/amygdala regions. Additionally, neural responses differed between TBI + ES and TBI + FS during math performance within the right dorsolateral prefrontal cortex and bilateral amygdala during auditory feedback within the supplementary motor area. All tests comparing neural stress responses to psychiatric symptom severity failed to reach significance. DiscussionControlling for TBI and seizure status, these findings implicate specific nodes within frontal, limbic, and sensorimotor networks that may maintain functional neurological symptoms and possibly distinguish FS from ES. This study provides class II evidence of differences in neural responses to psychosocial stress between ES and FS after TBI.

NURS-02. THE DEVELOPMENT AND IMPLEMENTATION OF SKINCARE TREATMENT PLANS AND PRODUCT KITS FOR PEDIATRIC PATIENTS RECEIVING TARGETED THERAPIES THAT CAUSE SKIN TOXICITY

Abstract BACKGROUND Mitogen-activated protein kinase (MAPK) pathway inhibitors are incorporated into the treatment regimens for several pediatric cancers. However, they commonly trigger dermatologic side effects, which can be challenging to manage and may have a significant impact on the quality of life. METHODS We previously performed a prospective study looking at the satisfaction and utilization of skincare kits and patient education regarding basic skincare practices. Based on these data, we developed revised skincare product kits and treatment plans that can be individualized for patients who are at risk of developing dermatologic side effects from targeted therapies. RESULTS Based on our prior study, 77% of patients thought the skincare kits and instructions were helpful. Seventy-seven percent of patients also recommended that they be distributed at the initiation of therapy. Through this study, we discovered that the patient reported medical history questions were inconsistent when compared with medical chart reviews. The most common discrepancies included information regarding patient’s diagnosis, prescribed medications, skin-related problems, and past medical history. From this data, we have developed a new skincare product kit and patient skincare plans which we distribute to every patient prior to starting their targeted therapy. The skincare kits consist of a cleanser, emollient, oral care products, sunscreen, pyrithione zinc containing shampoo, and facial moisturizers for adolescent patients. Our patient skincare plans consist of patient-specific information including diagnosis, medications, and their targeted agent. The plan provides details on how and when to use each product, application time, and order in which to apply products and topical medications. CONCLUSION Our project has highlighted the importance of patient education regarding dermatologic side effects in those starting targeted therapies. We have successfully implemented this by providing our patients with both skincare products and patient-specific care plans.

Economic burden of varicella in Bangkok, Thailand: A multicenter medical chart review study.

Our multicenter, medical chart review, cost-of-illness study used a micro-costing approach to evaluate the economic burden associated with varicella in Bangkok, Thailand, from a societal perspective. We reviewed medical charts of adults and children with a primary diagnosis of varicella (2014-2018) from 4 hospitals in Bangkok. Reported healthcare resource utilization and missed school or workdays were extracted from medical charts. Mean direct, indirect, and total costs per patient were estimated for overall, adult, and pediatric patients (2020 USD). Of the 200 children and 60 adults, 99.6%, 5.4%, and 5.4% had a varicella-related outpatient visit, emergency department visit, and hospitalization, respectively. The mean direct medical cost was 33 USD for pediatric and adult patients. The mean cost of outpatient visits (8 vs 13 USD, P<0.001) and medications (7 vs 9 USD, P<0.001) was significantly lower among pediatric patients. Forty-eight children reported a mean of 5.8 school days lost, and 32 adult patients reported a mean of 7.4 workdays lost. The mean total cost per varicella patient was 89 USD, with the mean total cost higher for adult than pediatric patients (145 vs 72 USD, P<0.001). Indirect cost accounted for 63% of the total cost per patient (54% for pediatric patients and 77% for adult patients). There is a substantial economic burden associated with patients seeking varicella-related healthcare in Thailand, including considerable indirect costs.

Distally based peroneus brevis flap: Reconstruction of complex soft-tissue defects with bony infection of the lateral malleolus

BackgroundManaging wounds of the lateral malleolus is challenging owing to limited nearby tissues and possibly injured or inadequate vessels for free flaps, especially in case of underlying infections. Moreover, free flaps require specialized skills and are not suitable for every patient. Therefore, identifying reliable local alternatives is crucial. This retrospective study investigated the efficacy and safety of the distally based peroneus brevis muscle flap in treating complex and infected soft-tissue defects of the lateral malleolus. Materials and methodsA retrospective medical chart review of all patients who underwent a distally based peroneus brevis muscle flap reconstruction in the context of an infected lateral malleolus defect at Geneva University Hospitals between October 2020 and January 2024 was performed. ResultsTen patients underwent lateral malleolus reconstruction using a distally based peroneus brevis muscle flap primarily to address post-traumatic infections. Flap coverage was performed within 4 weeks of infection onset for post-traumatic cases, alongside antibiotic treatment. The defects were moderate in size, with a median width of 2.5 cm and length of 5.5 cm. There were no complete or partial flap failures. All patients regained the ability to walk within 5 days after surgery. ConclusionsThe distally based peroneus brevis muscle flap was efficient in managing complex and infected soft-tissue defects of the lateral malleolus, with control of infection in all patients and minimal donor-site morbidity.