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Objective: To determine the financial impact of Ehlers-Danlos syndromes (EDS) on patients in the United States by examining the medical expenses incurred by patients. Patients and Methods: We used a convenience sample approach and disseminated a self-reported survey questionnaire to individuals with EDS via patient advocacy organizations and support groups across the country, social media, and health professionals from April 1, 2023, to December 31, 2023. The survey focused on the out-of-pocket medical expenses incurred by patients. Results: The final analytic data set included 884 responses. Responses were received from individuals in all 50 states and the District of Columbia. More than 50% reported individual income less than $25,000, and more than 30% reported household income less than $50,000. More than 80% of respondents had some type of commercial insurance and 29% reported receiving Medicaid. Respondents received more financial assistance from their family and friends than from government sources. The total median out-of-pocket financial cost by our analysis was $13,450 (IQR: $6500-$25,800). Of the 838 who responded to the question, “Did the affected person receive the health care they needed?”, 19% answered “no”, 51% answered “yes, sometimes”, and 30% answered “yes, most of the time”. Conclusion: The factors contributing to financial impact include both direct and indirect costs of accessing and receiving medical care. Our study findings highlight the magnitude of the burden of health care spending on patients with EDS.

IntroductionPatients with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) have significant health challenges that are well-documented, however their impact in terms of cost is not known. Our research objective was to examine the cost burden of EDS and HSD in the United States. We focused this analysis on those with commercial insurance plans.MethodsWe queried the MarketScan® database for year 2021 for claims that contained an ICD-10 diagnosis code for EDS or hypermobility. Excess costs for patients in the EDS and HSD cohorts were determined by matching each patient to one patient in the database that did not have a claim for EDS or HSD and comparing total costs for the calendar year. We determined whether patients had claims for selected comorbid conditions likely to impact costs during the calendar year.ResultsSample sizes were 5,113 for adult (age ≥ 18) patients with EDS, 4,880 for adult patients with HSD, 1,059 for child (age 5–17) patients with EDS, and 2,427 for child patients with HSD. The mean excess costs were $21,100 for adult EDS patients, $11,600 for adult HSD patients, $17,000 for child EDS patients, and $11,000 for child HSD patients. EDS and HSD cohorts, both adults and children, with any of the comorbidities had greater healthcare costs. The largest difference was found in the EDS cohort with gastrointestinal comorbid conditions, with more than double the costs for adults.DiscussionWe found that patients in the MarketScan database, adults and children, who had EDS or HSD had substantially higher associated excess healthcare costs than patients without EDS or HSD when considering age, sex, geographic location, and comorbidities. These disproportionate healthcare costs in this population have health policy and economic implications, including the need for rapid diagnosis, access to treatment, and accelerated research to advance treatments.

The development of innovative materials, based on the modern technologies and processes, is the key factor to improve the energetic sustainability and reduce the environmental impact of electrical equipment. In particular, the modeling of magnetic hysteresis is crucial for the design and construction of electrical and electronic devices. In recent years, additive manufacturing techniques are playing a decisive role in the project and production of magnetic elements and circuits for applications in various engineering fields. To this aim, the use of the deep learning paradigm, integrated with the most common models of the magnetic hysteresis process, has become increasingly present in recent years. The intent of this paper is to provide the features of a wide range of deep learning tools to be applied to magnetic hysteresis context and beyond. The possibilities of building neural networks in hybrid form are innumerable, so it is not plausible to illustrate them in a single paper, but in the present context, several neural networks used in the scientific literature, integrated with various hysteretic mathematical models, including the well-known Preisach model, are compared. It is shown that this hybrid approach not only improves the modeling of hysteresis by significantly reducing computational time and efforts, but also offers new perspectives for the analysis and prediction of the behavior of magnetic materials, with significant implications for the production of advanced devices.

Acellular dermal matrices, currently represent a useful reconstructive method in onco-dermatologic surgery. Nevertheless, they have some limitations, especially in terms of costs and outpatient post-operative wound care. While some studies on their cost-to-benefit ratio in breast surgery have already been issued, evidence is currently lacking in onco-dermatological surgery. The aim of this study was to evaluate the clinical outcomes perceived by patients who had undergone onco-dermatologic surgery in which either acellular dermal matrices or skin grafts had been used as reconstructive methods. A study population of 150 patients was identified retrospectively and patients’ degree of satisfaction was assessed through the Global Aesthetic Improvement Scale and the Patient Scar Scale Questionnaire. Despite similar scores among the study groups, slightly better results were appreciable after single-stage grafting. However, to what extent these variations really represent a significant difference from a clinical point of view remains to be determined. Moreover, other potential bias in the interpretation of our results may reside in differences in terms of age, body location and baseline tumor size among the study groups. Therefore, further research is needed.

IntroductionIndividuals with Ehlers-Danlos syndromes (EDS) often have complex and multi-faceted symptoms across the lifespan. Pain and the related symptoms of fatigue and sleep disorders are common. The objective of this qualitative study was to understand how participants manage their pain and related symptoms.MethodsThe design was a qualitative thematic content analysis. Twenty-eight interviews were conducted to collect data from individuals who were participants in a prior quantitative longitudinal study. A semi-structured interview guide was designed to focus on and understand the trajectory of pain, sleep, fatigue, and general function. The interview continued with questions about coping mechanisms and obstacles to maintaining a sense of well-being.ResultsSymptoms reported by participants were widespread and often interwoven. Pain was universal and often resulted in fatigue and disordered sleep which impacted physical function. Most participants reported that their symptoms worsened over time. Participants reported a wide range of effective interventions and most reported developing self-care strategies to adapt to their disabilities/limitations. Solutions included complementary interventions discovered when conventional medicine was unsuccessful. Very few relied on a “system” of health care and instead developed their own strategies to adapt to their disabilities/limitations.DiscussionEDS symptoms are often debilitating, and their progression is unknown. For most participants, symptoms worsened over the time. Even though participants in our study, by experience, were self-reliant, the importance of knowledgeable medical providers to help guide self-care should be emphasized.

Importance: Alström syndrome is a rare genetic disorder characterized by retinopathy and has life-threatening complications. Alström syndrome is frequently misdiagnosed or confused with other early childhood disorders with retinopathy. Understanding the spectrum of ocular manifestations of Alström syndrome is essential for ophthalmologists to recognize the cause and institute-appropriate care for this disorder that requires multidisciplinary attention. Objective: To quantify and summarize the common ocular findings of Alström syndrome Design: Case series, clinical exam data obtained from 2015 to 2023 Setting: Semiannual multidisciplinary Alström syndrome clinics (2015–2023) at the Greater Baltimore Medical Center (GBMC), organized by Alström Syndrome International (ASI) Participants: Forty-eight patients (38 children, 10 adults) with a known diagnosis of Alström syndrome participated in the semiannual multidisciplinary Alström syndrome clinics. Patients apply to be seen and are accepted based on need and capacity. Intervention(s) or Exposure(s): Not applicable Main Outcome(s) and Measure(s): Clinical ocular findings Results: Participants in this study had a median age of 8 years (15 months to 42 years). Visual acuity and progression of vision loss varied. The youngest patient who was legally blind was 2 years old. The oldest patient who maintained useful vision was 7 years old. All patients 8 years old or older were legally blind. Nystagmus (94%, 45 of 48) and photophobia (73%, 35 of 48) were the most common first presenting ocular symptoms in childhood. Retinal vascular attenuation (91%, 40 of 44) and retinal internal limiting membrane changes (68%, 30 of 44) were the most commonly documented retinal findings in both children and adults followed by optic nerve (ON) pallor and retinal pigment epithelium (RPE) mottling. Less than half of the children had ON pallor (38%, 14 of 37) and RPEmottling (38%, 14 of 37), while all adults had these two findings (100%, 7 of 7). Retinal pigment clumps were not common in children (11%, 4 of 37), while common in adults (86%, 6 of 7). Conclusions and Relevance: Knowledge of these ocular findings is key to promptly recognize Alström syndrome. The ocular phenotype of Alström syndrome is largely dependent on age, suggesting that low vision interventions and potential gene-based therapeutics should target children with this disorder. KEY POINTS: Question: What are the common ocular findings in Alström syndrome? Findings: In this case series study that included 48 patients with Alström syndrome, common ocular findings were retinal vascular attenuation and retinal internal limiting membrane changes documented in both children and adults. Optic nerve (ON) pallor and retinal pigment epithelium (RPE) mottling were relatively less common. Meaning: Knowledge of these clinical findings is essential to recognize this potentially vision- and life-threatening condition and to guide the optimal timing for receiving gene-based treatment in the future. [ABSTRACT FROM AUTHOR]

The Ehlers‐Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical aspects of EDS as a syndrome and patients' lived experiences, a gap in the literature exists regarding clinicians' experience caring for these individuals. This study sought to understand the effects of hEDS patient referrals from genetic counselors' perspectives. To capture these novel views and values, we conducted semi‐structured interviews with 15 participants who were members of the National Society of Genetic Counselors (NSGC) and had experience working with the hEDS patient population. Interview questions explored the frequency of hEDS referrals in their clinic, investigated their roles and responsibilities as genetic counselors when working with this population, analyzed their workflow for this indication, assessed the impacts on their professional satisfaction, and explored potential options for improving workflow and care for the hEDS patient population. Reflexive thematic analysis yielded four themes: (1) Referrals for hEDS have generally increased over time and many institutions have implemented new policies to control this influx, (2) genetic counselors' primary roles include education and addressing psychosocial matters for this population, (3) genetic counselors feel both rewarded and challenged by these referrals, and (4) genetic counselors call for more education and training on hEDS for all healthcare specialties. Our findings provide a better understanding of the goals of the hEDS patient referrals to genetics specialists and the opportunities and challenges those referrals present. Genetic counselors have specific training and skills in psychosocial counseling and communication, in some ways making them ideal care providers for this population. However, they are simultaneously a scarce resource and the complex medical issues presented by many patients with hEDS make multidisciplinary management essential. We conclude with potential avenues for improving interactions with this population. [ABSTRACT FROM AUTHOR]

The development of innovative materials, based on the modern technologies and processes, is the key factor to improve the energetic sustainability and reduce the environmental impact of electrical equipment. In particular, the modeling of magnetic hysteresis is crucial for the design and construction of electrical and electronic devices. In recent years, additive manufacturing techniques are playing a decisive role in the project and production of magnetic elements and circuits for applications in various engineering fields. To this aim, the use of the deep learning paradigm, integrated with the most common models of the magnetic hysteresis process, has become increasingly present in recent years. The intent of this paper is to provide the features of a wide range of deep learning tools to be applied to magnetic hysteresis context and beyond. The possibilities of building neural networks in hybrid form are innumerable, so it is not plausible to illustrate them in a single paper, but in the present context, several neural networks used in the scientific literature, integrated with various hysteretic mathematical models, including the well-known Preisach model, are compared. It is shown that this hybrid approach not only improves the modeling of hysteresis by significantly reducing computational time and efforts, but also offers new perspectives for the analysis and prediction of the behavior of magnetic materials, with significant implications for the production of advanced devices. [ABSTRACT FROM AUTHOR]

This study employs the Lie symmetry technique to explore the symmetry features of the time fractional Kupershmidt equation. Specifically, we use the Lie symmetry technique to derive the symmetry generators for this equation, which incorporates a conformal fractional derivative. We use the symmetry generators to transform the fractional partial differential equation into a fractional ordinary differential equation, thereby simplifying the analysis. The obtained reduced equation is of fourth order nonlinear ordinary differential equation. To find the wave solutions, F/G‐expansion process has been used to obatin different types of solutions of the time‐fractional Kuperschmidt equation. The obtained wave solutions are hyperbolic and trigonometric in nature. We then use Maple software to visually depict these wave solutions for specific parameter values, providing insights into the behaviour of the system under investigation. Peak and kink wave solutions are achieved for the given problem. [ABSTRACT FROM AUTHOR]