Indeterminate Cell Histiocytosis: A Case Report

Indeterminate cell histiocytosis is a rare neoplasm composed of cells with mixed characteristics of Langerhans cells and non-Langerhans cells. An otherwise healthy, 36-year-old woman presented with asymptomatic generalized papules and nodules that had appeared on all four extremities, the trunk, and cheeks in the previous 6 months. The lesions were firm, painless, non-pruritic, and slightly flesh-yellow or reddish-brown in color. Histopathologic, immunohistochemical examination and electron microscopic studies showed characteristic findings of indeterminate cell histiocytosis: diffuse proliferative histiocytes infiltrating the dermis without epidermotropism or atypia; neoplastic cells expressing markers characteristic of both Langerhans cells (CD1a, S-100) and focal monocytes/macrophages (Factor XIIIa, CD68); and no Birbeck granules within the cytoplasm of the neoplastic cells. Flow cytometry revealed more CD34+ cells in the peripheral blood of the patient than in peripheral blood from a control. Interestingly, the patient responded favorably to psoralen ultraviolet A-range treatment. Herein, we present this case and review the literature

Genome-Wide Gene Expression Analysis Implicates the Immune Response and Lymphangiogenesis in the Pathogenesis of Fetal Chylothorax

Fetal chylothorax (FC) is a rare condition characterized by lymphocyte-rich pleural effusion. Although its pathogenesis remains elusive, it may involve inflammation, since there are increased concentrations of proinflammatory mediators in pleural fluids. Only a few hereditary lymphedema-associated gene loci, e.g. VEGFR3, ITGA9 and PTPN11, were detected in human fetuses with this condition; these cases had a poorer prognosis, due to defective lymphangiogenesis. In the present study, genome-wide gene expression analysis was conducted, comparing pleural and ascitic fluids in three hydropic fetuses, one with and two without the ITGA9 mutation. One fetus (the index case), from a dizygotic pregnancy (the cotwin was unaffected), received antenatal OK-432 pleurodesis and survived beyond the neonatal stage, despite having the ITGA9 mutation. Genes and pathways involved in the immune response were universally up-regulated in fetal pleural fluids compared to those in ascitic fluids. Furthermore, genes involved in the lymphangiogenesis pathway were down-regulated in fetal pleural fluids (compared to ascitic fluid), but following OK-432 pleurodesis, they were up-regulated. Expression of ITGA9 was concordant with overall trends of lymphangiogenesis. In conclusion, we inferred that both the immune response and lymphangiogenesis were implicated in the pathogenesis of fetal chylothorax. Furthermore, genome-wide gene expression microarray analysis may facilitate personalized medicine by selecting the most appropriate treatment, according to the specific circumstances of the patient, for this rare, but heterogeneous disease

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe

Rhabdomyomatous Mesenchymal Hamartoma: A Plaque-Type Variant in an Adult

We present the case of a 40-year-old woman who had a flesh-colored asymptomatic plaque-like lesion above her chin since she was 30 years old. She was generally healthy and physical examination revealed no congenital abnormalities. Histopathology revealed a normal epidermal surface, mature striated muscle fibers arranged randomly within the dermis, and subcutaneous tissue associated with normal-appearing mesenchymal elements such as adipose tissue, collagen, blood vessels, and mature hair follicles. This fits the diagnosis of rhabdomyomatous mesenchymal hamartoma. Our case was different from previously reported cases with regards to the age of onset and clinical presentation. We report this rare adult case and discuss its differential diagnosis

Cxc Chemokine Receptor Cxcr4 Expression Enhances Tumorigenesis and Angiogenesis of Basal Cell Carcinoma

Summary Background Chemokines and their receptors, well known for their ability to attract leucocytes, also play important roles for tumour progression. Objectives To investigate the possible involvement of chemokine receptors in the pathogenesis of cutaneous basal cell carcinoma (BCC). Methods We performed an expression analysis of chemokine receptors using a well-characterized human BCC cell line. Upon the finding of CXCR4 expression by BCC, retroviral transduction of BCC cells with the CXCR4 gene was employed to address its functional significance for BCC in vitro and in vivo. Results We found expression of the CXC chemokine receptor CXCR4 by a human cell line and a subset of tissue samples from BCC, especially in noduloulcerative and sclerosing types. Following treatment with CXCL12, the ligand for CXCR4, CXCR4-transduced BCC cells (CXCR4-BCC) showed increased proliferation under low serum concentration and resistance to apoptosis induced by ultraviolet B irradiation in vitro. Conditioned media from CXCR4-BCC preincubated with CXCL12 enhanced tubule formation of human endothelial cells in vitro. These responses of CXCR4- BCC were negated by cotreatment with either neutralizing antibodies or specific blocking peptides for CXCR4 in vitro. Moreover, xenograft tumour transplants produced by injection of CXCR4-BCC yielded significant tumour progression in nude mice, whereas additional serial injections of CXCR4- blocking peptides resulted in tumour regression. Conclusions CXCR4 expression may play a critical role in tumour progression and angiogenesis of certain subtypes of BCC with more aggressive nature, and functional blockade of CXCR4 could be a potential therapeutic strategy for these tumours

Exploring the Potential of Generative Artificial Intelligence in Education: Applications, Challenges, and Future Research Directions

Generative artificial intelligence (GAI) applications, such as ChatGPT (Chat Generative Pre-trained Transformer) and Midjourney, have recently attracted much attention from researchers and school teachers. While many people are eager to learn more about GAI applications, some scholars are concerned about the potential misuse of them. It is predicted that the use of GAI applications will increase rapidly in the coming years. Therefore, it is important to consider the challenges and research issues through some concrete application examples of using GAI for education. In this position paper, the authors aim to address these issues from the perspectives of academic research and educational objectives. Along with defining GAI, several illustrative examples of using GAI applications in educational settings are provided. Moreover, potential research issues of GAI-based learning, including research design, relevant learning strategies, research focus, and measuring tools, are discussed. ET&S journal is especially welcoming research on unlocking the potential of GAI for education to realize the two notions of “Knowing [why] is the essential element for learners to have in-depth understanding” and “It is all about prompts: Get rid of the ‘search’ mindset and use ‘programming prompt’ instead.

Infantile generalized pustular psoriasis: a case report and review of the literature

Infantile generalized pustular psoriasis (von Zumbusch) is a rare form of psoriasis. Here, we report a 3-month-old Taiwanese girl who was treated with Chinese herbal medicine for abdominal fullness starting at 1 month of age. Around 1 month into the treatment, sudden onset of generalized erythematous plaques with scales and pustules was noted which lasted for 1 month. Histopathology of the skin lesion revealed accumulation of polymorphs within the parakeratotic stratum corneum and subcorneal neutrophilic pustules. Based on clinical presentation, histopathology, and negative bacterial cultures, our final diagnosis was infantile generalized pustular psoriasis. Both drug use and physical stress (abdominal fullness for 1 month) may play a role in inducing generalized pustular psoriasis in this patient. The patient responded well to topical treatment, and the disease is under control with only occasional flares. In summary, because infants are at a stage of rapid growth, timely diagnosis and tailored therapy according to response are essential to ensure that the disease process does not interfere with normal development

Epidemiology of Depression in Patients with Psoriasis: A Nationwide Population-based Cross-sectional Study

The epidemiology of depression in patients with psoriasis has not been well defined in the Asian population. This study evaluated the epidemiological features of, and risk factors for, depression among patients with psoriasis in Taiwan. A nationwide population-based cross-sectional study was undertaken using the National Health Insurance Research Database. This study included 17,086 patients with psoriasis and 1,607,242 patients from the general population. The prevalence of depression in patients with psoriasis was 11.52%, while the prevalence of depression in the general population was 7.73% (prevalence ratio 1.49, 95% confidence interval 1.43–1.55). Multivariable analysis showed that, in patients with psoriasis, risk factors associated with depression were: age 20–50 years, female sex, low income, and major comorbid diseases, including liver cirrhosis, renal disease, cardiovascular disease and cerebrovascular disease. Therefore, the prevalence of depression is higher in patients with psoriasis, particularly in young and middle-aged women with low income and major comorbidities