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Dandy-Walker Malformation and Optic Nerve Hypoplasia: A Developmental Case Highlighting the Psychiatric Impact of Central Nervous System Malformation
No full textDandy-Walker malformation (DWM) and optic nerve hypoplasia (ONH) are rare congenital anomalies associated with neuropsychiatric morbidity, but their co-occurrence in adults has not been described. We present an adult patient with both DWM and unilateral ONH who developed auditory hypersensitivity, visual agnosia, phonological dyslexia, dysgraphia, and longstanding academic challenges, later evolving into recurrent depression, anxiety, and insomnia. Neuroimaging revealed a Dandy-Walker variant with cerebellar atrophy and ONH, and her presentation was consistent with cerebellar cognitive affective syndrome. Notably, despite the established risk of autism spectrum-like traits in both DWM and ONH, she did not demonstrate autistic features. This case highlights how overlapping congenital anomalies may synergistically increase vulnerability to psychiatric illness and underscores the importance of early recognition and tailored interventions. To our knowledge, this is among the first adult cases describing co-occurring DWM and ONH with a longitudinal psychiatric course
Unprecedented Polymicrobial Bacteremia With Nine Microorganisms in a Critically Ill 95% Burn Patient
No full textThis report describes the case of a 21-year-old male with 95% total body surface area full-thickness burns who developed polymicrobial bacteremia involving nine distinct bacterial species, the highest number of diverse bacterial species documented to simultaneously coexist in a patient’s bloodstream. Despite aggressive surgical, antimicrobial, and multidisciplinary interventions, the patient succumbed to sepsis after 12 days. The case highlights the diagnostic and therapeutic challenges of managing complex infections in burn patients and underscores the critical importance of early detection, prompt treatment, and coordinated care. A literature review of the identified pathogens provides context and reveals notable findings relevant to this unprecedented case
Episodic Neuropathic-Like Musculoskeletal Pain Associated With Ritlecitinib Therapy in Alopecia Universalis: A Case Report
No full textThis case report describes a 30-year-old male patient with extensively treatment-resistant alopecia universalis in the context of autoimmune and atopic comorbidities, including eczema, asthma, severe allergic reactions, and Hashimoto’s thyroiditis. The Janus kinase (JAK) inhibitors described in this case report are considered treatment failures, defined as the absence of clinically meaningful hair regrowth after at least six months of therapy or discontinuation due to adverse effects. Despite the recent approval of JAK inhibitors for severe alopecia areata, our patient experienced treatment failure with multiple agents and, while on ritlecitinib, developed a debilitating, episodic musculoskeletal pain syndrome. To our knowledge, such a presentation has not been well characterized in the literature. While causality cannot be firmly established, this case raises the possibility of a novel treatment-related adverse effect that may significantly impair quality of life. These findings underscore the importance of ongoing pharmacovigilance as JAK inhibitors are increasingly utilized in alopecia management
Effectiveness of Surgical Skin Preparation Solutions in Orthopaedic Surgery: A Systematic Review of the Current Comparative Literature
No full textBACKGROUND
Surgical site infection (SSI) is a major concern in orthopaedic surgery procedures as they can have devastating consequences for patients and their outcomes. Many infection prevention measures are routinely taken in order to prevent infection during surgery, the main one being surgical skin preparation prior to any incision.
AIM
To investigate the efficacy of different perioperative surgical skin preparation products commonly used in orthopaedic surgery.
METHODS
Seven databases were searched from inception to January 25, 2025, using a combination of keywords and medical subject headings terms, specifically for studies comparing any two surgical skin preparation products used at any point prior to skin incision for orthopaedic procedures. Titles and abstracts were screened and full texts reviewed based on inclusion criteria. Data was extracted on study design, interventions, and outcomes from studies that met inclusion criteria. Meta-analysis was not completed due to heterogeneity.
RESULTS
Thirty-two studies met the inclusion criteria in this systematic review. In extremity fracture surgery, evidence was mixed on whether iodine or chlorhexidine-based solutions are more effective at preventing SSI. No significant difference was found between iodine and chlorhexidine-based solutions in total joint arthroplasty, spine surgery, foot and ankle surgery, or upper extremity surgery. No tested preparation method was superior in reducing positive Cutibacterium acnes culture rates in upper extremity (shoulder) surgery. Adding adjuncts to iodine and chlorhexidine methods, such as isopropyl alcohol, hydrogen peroxide, or benzoyl peroxide showed no significant changes to SSI or bacterial cultures.
CONCLUSION
Current literature shows no significant difference between chlorhexidine-based and iodine-based skin preparation solutions in orthopaedic extremity or spine surgery regarding SSI prevention or culture results. Likewise, adding other antiseptic agents provided no clear benefit. While skin antisepsis is important, many different factors contribute to SSI risk outside of the skin preparation solution
The Impact of Discontinuation and Non-publishing of Osteoporosis Clinical Trials
No full textContext: Osteoporosis is a prevalent chronic disease associated with fractures, reduced quality of life, and substantial healthcare costs. Randomized controlled trials (RCTs) are essential for developing effective treatments, but when trials are discontinued or unpublished, valuable data are lost. This results in unnecessary costs and exposes thousands of participants to interventions without contributing to clinical care.
Objectives: This study aims to evaluate the rates and characteristics of discontinuation and nonpublication among US-registered phase 3 and 4 RCTs investigating osteoporosis therapies from 2000 to 2022.
Methods: Phase 3 and 4 osteoporosis-related RCTs were identified through ClinicalTrials.gov. Trial completion and publication status were determined utilizing multiple databases and researcher contact. Chi-square and Fisher\u27s exact tests assessed the associations between trial characteristics and outcomes.
Results: Of 303 trials, 29 (9.6 %) were discontinued, and 274 (90.4 %) completed. Among completed trials, 124 (45.3 %) remained unpublished. Discontinuation was significantly more common in nonindustry-funded and single-center trials (p\u3c0.01, p=0.04). Nonpublication was more frequent among industry-funded and internationally recruited trials (p\u3c0.01, p=0.01).
Conclusions: Nearly half of osteoporosis RCTs were either discontinued or unpublished, representing a substantial loss of clinical data, financial inefficiency, and ethical concerns. These findings mirror patterns observed in other therapeutic areas, underscoring systemic challenges in clinical research transparency. Strengthening feasibility assessments, enforcing reporting mandates, and addressing structural barriers to trial completion and publication are essential to safeguard research integrity and ensure that patient contributions meaningfully inform medical knowledge
The Role of Childhood Stress in Inflammatory Skin Conditions: A Neuroimmune Investigation
Full text linkEmerging evidence indicates that childhood stressors, such as familial conflict, bullying, academic pressure, and traumatic events, can significantly worsen inflammatory skin conditions like atopic dermatitis (AD) and psoriasis. This review explores the underlying neuroimmune pathways that link stress to skin inflammation in children, focusing on the role of the hypothalamic-pituitary-adrenal (HPA) axis and stress-induced cytokine production. Studies have shown that chronic psychological stress leads to dysregulation of the HPA axis, resulting in elevated cortisol levels, which paradoxically impair skin barrier function and upregulate pro-inflammatory cytokines such as IL-6, TNF-α, and IL-1β. Specific stressors, such as bullying, have been associated with heightened immune responses, increasing inflammation in the skin. For example, research has demonstrated that children who experience social stressors show elevated levels of C-reactive protein (CRP) and other markers of systemic inflammation, which directly correlate with skin condition flare-ups. Furthermore, exposure to early life stress has been linked to long-term alterations in immune function, perpetuating chronic inflammation even in the absence of ongoing stress. Future research should focus on longitudinal studies assessing how the timing, duration, and type of stressors influence skin condition severity, alongside evaluating interventions like cognitive-behavioral therapy (CBT) and stress management techniques. By addressing these childhood stressors, there is potential to not only mitigate skin condition flares but also reduce the long-term health consequences of chronic inflammation leading to therapeutic strategies that emphasize mental health alongside traditional dermatological treatments
Genome-Wide Transcriptome Differences Associated with Perceived Discrimination in an Urban, Community-Dwelling Middle-Aged Cohort
Full text linkDiscrimination is a social adversity that is linked to several age-related outcomes. However, the molecular drivers of these observations are poorly understood. Social adverse factors are associated with proinflammatory and interferon gene expression, but little is known about whether additional genes are associated with discrimination among both African American and White adults. In this study, we examined how perceived discrimination in African American and White adults was associated with genome-wide transcriptome differences using RNA sequencing. Perceived discrimination was measured based on responses to self-reported lifetime discrimination and racial discrimination. Differential gene expression and pathway analysis were conducted in a cohort (N = 59) stratified by race, sex, and overall discrimination level. We found 28 significantly differentially expressed genes associated with race among those reporting high discrimination. Several of the upregulated genes for African American versus White adults reporting discrimination were related to immune function IGLV2-11, S100B, IGKV3-20, and IGKV4-1; the most significantly downregulated genes were associated with immune modulation and cancer, LUCAT1, THBS1, and ARPIN. The most enriched gene ontology biological process between African American and White men reporting high discrimination was the regulation of cytokine biosynthetic processes. The immune response biological process was significantly lower for African American women compared to White women reporting high discrimination. Discrimination was associated with the expression of small nucleolar RNAs, long noncoding RNAs, and microRNAs associated with energy homeostasis, cancer, and actin. Understanding the pathways through which adverse social factors like discrimination are associated with gene expression is crucial in advancing knowledge of age-related health disparities
Multimodal Pain Recognition in Postoperative Patients: Machine Learning Approach
Full text linkBackground: Acute pain management is critical in postoperative care, especially in vulnerable patient populations that may be unable to self-report pain levels effectively. Current methods of pain assessment often rely on subjective patient reports or behavioral pain observation tools, which can lead to inconsistencies in pain management. Multimodal pain assessment, integrating physiological and behavioral data, presents an opportunity to create more objective and accurate pain measurement systems. However, most previous work has focused on healthy subjects in controlled environments, with limited attention to real-world postoperative pain scenarios. This gap necessitates the development of robust, multimodal approaches capable of addressing the unique challenges associated with assessing pain in clinical settings, where factors like motion artifacts, imbalanced label distribution, and sparse data further complicate pain monitoring.
Objective: This study aimed to develop and evaluate a multimodal machine learning-based framework for the objective assessment of pain in postoperative patients in real clinical settings using biosignals such as electrocardiogram, electromyogram, electrodermal activity, and respiration rate (RR) signals.
Methods: The iHurt study was conducted on 25 postoperative patients at the University of California, Irvine Medical Center. The study captured multimodal biosignals during light physical activities, with concurrent self-reported pain levels using the Numerical Rating Scale. Data preprocessing involved noise filtering, feature extraction, and combining handcrafted and automatic features through convolutional and long-short-term memory autoencoders. Machine learning classifiers, including support vector machine, random forest, adaptive boosting, and k-nearest neighbors, were trained using weak supervision and minority oversampling to handle sparse and imbalanced pain labels. Pain levels were categorized into baseline and 3 levels of pain intensity (1-3).
Results: The multimodal pain recognition models achieved an average balanced accuracy of over 80% across the different pain levels. RR models consistently outperformed other single modalities, particularly for lower pain intensities, while facial muscle activity (electromyogram) was most effective for distinguishing higher pain intensities. Although single-modality models, especially RR, generally provided higher performance compared to multimodal approaches, our multimodal framework still delivered results that surpassed most previous works in terms of overall accuracy.
Conclusions: This study presents a novel, multimodal machine learning framework for objective pain recognition in postoperative patients. The results highlight the potential of integrating multiple biosignal modalities for more accurate pain assessment, with particular value in real-world clinical settings
