Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.

Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme. Xeroderma pigmentosum-erythropoietic protoporphyria is exceedingly rare. Hereby, we firstly report a young Chinese patient of xeroderma pigmentosum Group A with erythropoietic protoporphyria carrying an XPA Met214AsnfsTer7 frameshift mutation and a homozygous splicing mutation, c.315-48T>C, in the proband's intron3 of FECH.

A Case of Squamous Cell Carcinoma Arising in Disseminated Superficial Porokeratosis.

Porokeratosis (PK), characterized by keratotic lesions with an atrophic center and a prominent peripheral ridge, with a typical histological hallmark, namely, the cornoid lamella, has two forms: disseminated and localized. While PK often converts into squamous cell carcinoma (SCC), conversion from disseminated superficial porokeratosis (DSP) alone is rarely reported except for one case in which DSP and LP coexisted and converted to SCC. Here, we report the case of a patient with SCC converted from DSP alone, presenting with coin-sized macules on the bottom right of his waist that developed into an ulcer at the center. The patient underwent radiation therapy, which effectively treated the SCC but did not resolve the PK. This article highlights regular follow-up and undergo comprehensive diagnosis, both of which are beneficial to enable early detection and management of DSP that has converted to into SCC; in addition, standardized medical treatment may help improve the treatment therapeutic effect of in similar diseases.

Research progress on the role of macrophages in acne and regulation by natural plant products.

Acne vulgaris is one of the most common skin diseases. The current understanding of acne primarily revolves around inflammatory responses, sebum metabolism disorders, aberrant hormone and receptor expression, colonization by Cutibacterium acnes, and abnormal keratinization of follicular sebaceous glands. Although the precise mechanism of action remains incompletely understood, it is plausible that macrophages exert an influence on these pathological features. Macrophages, as a constituent of the human innate immune system, typically manifest distinct phenotypes across various diseases. It has been observed that the polarization of macrophages toward the M1 phenotype plays a pivotal role in the pathogenesis of acne. In recent years, extensive research on acne has revealed an increasing number of natural remedies exhibiting therapeutic efficacy through the modulation of macrophage polarization. This review investigates the role of cutaneous macrophages, elucidates their potential significance in the pathogenesis of acne, a prevalent chronic inflammatory skin disorder, and explores the therapeutic mechanisms of natural plant products targeting macrophages. Despite these insights, the precise role of macrophages in the pathogenesis of acne remains poorly elucidated. Subsequent investigations in this domain will further illuminate the pathogenesis of acne and potentially offer guidance for identifying novel therapeutic targets for this condition.

Association between allergic diseases and both psoriasis and psoriatic arthritis: a bidirectional 2-sample Mendelian randomization study.

Background An increasing body of observational studies has indicated a potential link between allergic diseases, namely atopic dermatitis (AD), allergic rhinitis (AR), allergic asthma (AA), and psoriasis (PSO) as well as psoriatic arthritis (PSA). However, the presence and causal direction of this association remain uncertain. Methods We conducted two-sample Mendelian randomization (TSMR) analyses utilizing summary statistics derived from genome-wide association studies (GWAS) consortia. The summary statistics were obtained from a substantial participant cohort, consisting of 116,000 individuals (21,000 AD cases and 95,000 controls), 462,933 individuals (26,107 AR cases and 436,826 controls), and 140,308 individuals (4859 AA cases and 135,449 controls). The summary statistics for PSO (9267 cases and 360,471 controls) and PSA (3186 cases and 240,862 controls) were sourced from the FinnGen database. The primary analytical approach employed inverse variance weighting (IVW) as the main method within TSMR. We validated our findings through a series of sensitivity analyses. Furthermore, we performed reverse TSMR analyses to evaluate the potential presence of reverse causality. Results Our investigation revealed a potential protective effect of AD against both PSO (OR = 0.922, 95% CI = 0.863-0.984, p = 0.015)and PSA(OR = 0.915, 95% CI = 0.843-0.993, p = 0.033). Moreover, employing inverse MR analysis, we obtained compelling evidence supporting the protective role of PSO in preventing AD (OR = 0.891, 95% CI = 0.829-0.958, p = 0.002), as well as AR (OR = 0.998, 95% CI = 0.996-0.999, p = 0.008), these associations remained statistically significant even after Bonferroni correction was applied to account for multiple comparisons. Furthermore, our findings did not reveal any substantial causal relationship between AA and either PSO or PSA. Conclusion Our study provides compelling evidence that PSO significantly confers protection against both AD and AR, while AD is likely to act as a protective factor for both PSO and PSA. Despite previous studies suggesting an association between allergic diseases and the incidence of PSO and PSA, our findings do not support this claim. To obtain more accurate and reliable conclusions regarding the causal mechanisms involved, larger sample sizes in randomized controlled trials or MR studies are warranted.

Dietary factors and Alzheimer's disease risk: a Mendelian randomization study.

BACKGROUND: Prior observational research has investigated the association between dietary patterns and Alzheimer's disease (AD) risk. Nevertheless, due to constraints in past observational studies, establishing a causal link between dietary habits and AD remains challenging. METHODS: Methodology involved the utilization of extensive cohorts sourced from publicly accessible genome-wide association study (GWAS) datasets of European descent for conducting Mendelian randomization (MR) analyses. The principal analytical technique utilized was the inverse-variance weighted (IVW) method. RESULTS: The MR analysis conducted in this study found no statistically significant causal association between 20 dietary habits and the risk of AD (All p > 0.05). These results were consistent across various MR methods employed, including MR-Egger, weighted median, simple mode, and weighted mode approaches. Moreover, there was no evidence of horizontal pleiotropy detected (All p > 0.05). CONCLUSION: In this MR analysis, our finding did not provide evidence to support the causal genetic relationships between dietary habits and AD risk.

Platelet-derived TGF-ß1 induces functional reprogramming of myeloid-derived suppressor cells in immune thrombocytopenia.

ABSTRACT: Platelet α-granules are rich in transforming growth factor ß1 (TGF-ß1), which is associated with myeloid-derived suppressor cell (MDSC) biology. Responders to thrombopoietin receptor agonists (TPO-RAs) revealed a parallel increase in the number of both platelets and MDSCs. Here, anti-CD61 immune-sensitized splenocytes were transferred into severe combined immunodeficient mice to establish an active murine model of immune thrombocytopenia (ITP). Subsequently, we demonstrated that TPO-RAs augmented the inhibitory activities of MDSCs by arresting plasma cells differentiation, reducing Fas ligand expression on cytotoxic T cells, and rebalancing T-cell subsets. Mechanistically, transcriptome analysis confirmed the participation of TGF-ß/Smad pathways in TPO-RA-corrected MDSCs, which was offset by Smad2/3 knockdown. In platelet TGF-ß1-deficient mice, TPO-RA-induced amplification and enhanced suppressive capacity of MDSCs was waived. Furthermore, our retrospective data revealed that patients with ITP achieving complete platelet response showed superior long-term outcomes compared with those who only reach partial response. In conclusion, we demonstrate that platelet TGF-ß1 induces the expansion and functional reprogramming of MDSCs via the TGF-ß/Smad pathway. These data indicate that platelet recovery not only serves as an end point of treatment response but also paves the way for immune homeostasis in immune-mediated thrombocytopenia.

Systemic immune-inflammation index is associated with cardiac complications following acute ischemic stroke: A retrospective single-center study.

BACKGROUND: Stroke-induced heart syndrome is a feared complication of ischemic stroke, that is commonly encountered and has a strong association with unfavorable prognosis. More research is needed to explore underlying mechanisms and inform clinical decision making. This study aims to explore the relationship between the early systemic immune-inflammation (SII) index and the cardiac complications after acute ischemic stroke. METHODS: Consecutive patients with acute ischemic stroke were prospectively collected from January 2020 to August 2022 and retrospectively analyzed. We included subjects who presented within 24 hours after symptom onset and were free of detectable infections or cancer on admission. SII index [(neutrophils × platelets/ lymphocytes)/1000] was calculated from laboratory data at admission. RESULTS: A total of 121 patients were included in our study, of which 24 (19.8 %) developed cardiac complications within 14 days following acute ischemic stroke. The SII level was found higher in patients with stroke-heart syndrome (p<.001), which was an independent predictor of stroke-heart syndrome (adjusted odds ratio 5.089, p=.002). CONCLUSION: New-onset cardiovascular complications diagnosed following a stroke are very common and are associated with early SII index.

Revealing the Impact of Gut Microbiota on Acne Through Mendelian Randomization Analysis.

Background: The association between acne and gut microbiota has garnered considerable attention; nevertheless, given the substantial diversity within gut microbiota, the precise cause-and-effect relationship linking specific microbial species to acne remains elusive. To address this gap in knowledge, our study utilized Mendelian randomization analysis to elucidate a potential causal link between gut microbiota composition and acne development while also investigating underlying mechanisms involving microbial factors associated with metabolic disorders. Materials and Methods: The independent single nucleotide polymorphisms (SNPs) closely associated with 196 gut microbiota samples (N=18340) were selected as variable tools. The relationship between gut microbiota and acne (N=212438) was analyzed using the Twosample package in R4.3.1, employing various methods including inverse variance weighting (IVW), weighted median, MR-Egger, Simple-mode, and Weighted-mode. To ensure the stability of the estimates, a series of sensitivity analyses were conducted, such as Cochran's Q-test, MR-Egger intercept analysis, leave-one-out analysis, and funnel plots. Additionally, the impact of each instrumental variable was calculated. Results: In the Mendelian randomization analysis, we identified twelve microbial taxa potentially associated with acne: family.Bacteroidaceae, family.Clostridiaceae1, genus.Allisonella, genus.Bacteroides, genus.Butyricimonas, genus.Clostridiumsensustricto1, and genus.Coprococcus3. These seven bacterial groups were found to be potential risk factors for acne. Conversely, family.Lactobacillaceae and genus.Ruminococcustorquesgroup along with genus.CandidatusSoleaferrea, genus.Fusicatenibacter, family.Lactobacillaceae, and genus.Lactobacillus exhibited a protective effect against acne. Furthermore, our investigation revealed that some of these microbial taxa have been implicated in metabolic diseases through previous studies. Importantly though, no causal relationship was observed in the reverse Mendelian randomization analysis.

Simultaneous detection of norepinephrine and 5-hydroxytryptophan using poly-alizarin/multi-walled carbon nanotubes-graphene modified carbon fiber microelectrode array sensor.

Multi-walled carbon nanotubes, graphene and alizarin polymer composites coated carbon fiber microelectrode array sensor (p-AZ/MWCNT-GR/CFMEA) was constructed and used for the simultaneous detection of norepinephrine (NE) and 5-hydroxytryptophan (5-HT). The morphology and structural characteristics of sensor are characterized using scanning electron microscopy, energy dispersive spectroscopy and X-ray diffraction. Its electrochemical behavior has been studied with cyclic voltammetry and electrochemical impedance spectroscopy. The sensor exhibits excellent electrochemical activity for the oxidation of NE and 5-HT, two well separated oxidation peaks with the peak potential difference of 220 mV are observed on the cyclic voltammogram. NE and 5-HT both show two electrons and two protons electrochemical reaction on the p-AZ/MWCNT-GR/CFMEA. Under the optimized experiment conditions, the linear ranges of the sensor for NE and 5-HT are 0. 08- 8 µM and 0. 1-20 µM with detection limits of 4. 22 nM and 14. 2 nM (S/N = 3), respectively. In addition, the microsensor array show good reproducibility, stability and selectivity for the determination of NE and 5-HT. Finally, the p-AZ/MWCNT-GR/CFMEA is applied to the simultaneous detection of NE and 5-HT in human serum samples and macrophages.

Lipid Metabolism Reprogramming of Immune Cells in Acne: An Update.

Acne vulgaris is one of the most widespread skin conditions and the main reason for visiting a dermatologist. Inflammatory response and abnormal infiltrations of immune cells are the main pathogenesis of acne. The increased lipid is the prerequisite for the acne, and the perturbation of lipid composition and content is consistent with the severity of acne. Furthermore, the increased lipid production not only contributes to the occurrence and development of acne, but also sensitizes the function of immune cells. The lipid metabolic dysfunction aggravates the severity of local tissue and provides pro-inflammatory-cytokine cues, which indicates the crucial roles of lipid metabolism on immune cells. Recent advances have demonstrated the lipid metabolism reprogramming of various immune cells in acne lesion. The abnormal lipid accumulation, lipolysis, and fatty acid oxidation lead to the activation and differentiation of immune cells, which promotes the pro-inflammatory cytokines production. Thus, this review discusses the emerging role of lipid metabolism reprogramming of immune cells in the progress of acne and aims to constitute food for others' projects involved in acne research.

Giant tumefactive perivascular spaces.

Perivascular spaces are parts of the glymphatic pathway in the brain, which are microscopic but visible on magnetic resonance imaging when enlarged. Here, we described a case of a 16-year-old boy who presented with chronic headaches. Magnetic resonance imaging revealed giant perivascular spaces in the right centrum semiovale. Furtherly, we summarized the literature on classical and rare presentations of massive perivascular spaces and raised awareness that more clinical significance of the giant tumefactive perivascular spaces remains to be elucidated.

Case report: Complete atrio-ventricular block successfully reversed in newly diagnosed primary cardiac B-cell lymphoma.

Primary cardiac tumors are extremely uncommon and primary cardiac lymphoma (PCL) is an even rarer subset. A definite diagnosis can be delayed, which increases the likelihood of a poor prognosis. We report a case involving a 64-year-old male who presented with dyspnea, palpitation, and third-degree atrioventricular block (AVB) secondary to primary cardiac B-cell lymphoma that was diagnosed via endomyocardial biopsy (EMB) and multimodality imaging. Chemotherapy was initiated using rituximab, cyclophosphamide, vindesine, and prednisone (R-COP) followed by implantation of an artificial capsule pacemaker. Third-degree AVB vanished, and the subsequent cycle of treatment was adjusted as R-CDOP (rituximab, cyclophosphamide, doxorubicin liposome, vindesine, and prednisone), with aspirin and rosavastatin to prevent ischemic events. So far, the patient had a good clinical course and normal electrocardiogram. This case underscores the importance of EMB in the diagnosis of heart neoplasms. It is worth noting that anthracycline is not contraindicated in PCL.

Acne Comorbidities.

Acne vulgaris is a multifactorial chronic inflammatory disorder of the pilosebaceous unit, and it represents the most common skin disease affecting about 85% of adolescents in Western populations. The prevalence of acne vulgaris in developed countries is higher than that in developing countries.Emerging data has shown some systemic diseases closely associated with acne, including obesity, diabetes mellitus, cardiovascular diseases, metabolic syndrome (Mets), and so on.This review summarizes acne-associated diseases that have been reported in studies, and analyzes the possible co-pathogenesis of these diseases and acne.

Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum: A Case Report.

The folliculitis decalvans (FD) and lichen planopilaris (LPP) phenotypic spectrum combines biphasic features of FD and LPP. It is characterized by successive or concomitant occurrence of pustules, crusts, follicular tufts, perifollicular erythema, perifollicular scales, and cicatricial alopecia and includes mixed histologic features of both FD and LPP. Here, we report the case of a 33-year-old female patient with a 30-year history of FD-LPP phenotypic spectrum lesions.

Simulation of the Peritectic Phase Transition in Fe-C Alloys.

In this work, a multi-phase cellular automaton (CA) model is extended for the quantitative simulation of peritectic phase transition. First, the effects of cooling rate/supersaturation and temperature on the peritectic transformation kinetics in Fe-C alloys are investigated by utilizing the present CA model. The CA simulations show that supersaturations in the parent phases (liquid and δ-ferrite) increase the L/γ interface growth velocity remarkably, but tinily for the δ/γ interface migration velocity. There exists a transition supersaturation for isothermal transformations, at which the growth rates of the two interfaces are equal. The transition supersaturation is found to increase with decreasing temperature. Microstructural evolution at different cooling rates during peritectic transformation is simulated using the experimental conditions. At low cooling rates, the δ/γ interface propagates at a higher velocity than the L/γ interface. At high cooling rates, however, the γ-phase grows more into the L-phase with a cellular morphology. Then, the proposed CA model is applied to simulate the microstructural evolution during peritectic reaction. It is observed that the γ-phase propagates along the L/δ interface and finally encircles the δ-phase. Meanwhile, the intervenient γ-phase grows in thickness through peritectic transformation. The CA simulations are compared reasonably well with the experimental data and analytical calculations.

Modelling of liquid film migration in Al-Cu alloys.

Microstructural evolution in the presence of liquid film migration (LFM) is simulated for Al-Cu alloys using a cellular automaton (CA) model. Simulations are performed for the microstructural evolution and concentration distribution in an Al-4 wt.%Cu alloy with initially equiaxed grain structures holding in a temperature gradient. A slight deviation from local equilibrium, estimated from experimental data, is considered to be the driving force for LFM. The direction of LFM is triggered by concentration fluctuations setting a concentration gradient as a further driving force. The simulation successfully reproduces the experimentally observed microstructures generated by LFM accompanied by a particle free zone behind the liquid film. The solid concentration in the particle free zone is found to be the equilibrium solid concentration. The simulated concentration profile across the migrating liquid film agrees well with experimental measurements. The simulated grain structure becomes coarser and highly elongated after holding in the temperature gradient. The results reveal that the increase in transversal grain width is mainly controlled by LFM, while the grain elongation in longitudinal direction is attributed to both LFM and temperature gradient zone melting. The solid concentration decreases from the initial (supersaturated) composition to the local equilibrium solid concentration corresponding to the local temperature. This article is part of the theme issue 'Transport phenomena in complex systems (part 2)'.

Carbon fiber microelectrode array loaded with the diazonium salt-single-walled carbon nanotubes composites for the simultaneous monitoring of dopamine and serotonin in vivo.

Carbon fiber microelectrode arrays based on diazonium salt and single-walled carbon nanotubes composites (DS-SWCNT/CFMEA) have been fabricated, and it developed for the simultaneous monitoring of dopamine (DA) and serotonin (5-HT) with differential pulse voltammary (DPV). The diazonium salt can improve the water-solubility of single-walled carbon nanotubes and show good selectivity to DA, thus DS-SWCNT/CFMEA exhibits enhanced electrocatalytic activity for the oxidation of DA and 5-HT, and well antifouling ability to the other biomolecules. Moreover, DS-SWCNT/CFMEA shows the wider liner range, and the good performance of precision, reproducibility and biocompatibility. The excellent characteristics of the prepared microsensor array make it to be used to monitor the release of DA and 5-HT in the mouse brain striatum of different group over time. Meanwhile, the results of in vivo on line assay further confirmed the pharmacological effects of Uncaria alkaloid extract solution on DA and 5-HT. This research may provide a new method for monitoring the release of neurobiomolecules, and the microsensor array are expected to be a tool for the study of pharmacological and physiological processes on line in vivo.

Multi-Scale Modeling of Microstructure Evolution during Multi-Pass Hot-Rolling and Cooling Process.

In this work, a 6-pass hot-rolling process followed by air cooling is studied by means of a coupled multi-scale simulation approach. The finite element method (FEM) is utilized to obtain macroscale thermomechanical parameters including temperature and strain rate. The microstructure evolution during the recrystallization and austenite (γ) to ferrite (α) transformation is simulated by a mesoscale cellular automaton (CA) model. The solute drag effect is included in the CA model to take into account the influence of manganese on the γ/α interface migration. The driving force for α-phase nucleation and growth also involves the contribution of the deformation stored energy inherited from hot-rolling. The simulation renders a clear visualization of the evolving grain structure during a multi-pass hot-rolling process. The variations of the nonuniform, deformation-stored energy field and carbon concentration field are also reproduced. A detailed analysis demonstrates how the parameters, including strain rate, grain size, temperature, and inter-pass time, influence the different mechanisms of recrystallization. Grain refinement induced by recrystallization and the γ→α phase transformation is also quantified. The simulated final α-fraction and the average α-grain size agree reasonably well with the experimental microstructure.

Women's Work-Life Balance in Hospitality: Examining Its Impact on Organizational Commitment.

Women account for a large proportion of the hotel industry. Work-life conflict has become one of the main obstacles to the organizational commitment of women. Thus, this study investigates the relationship for women between work-life balance, as an independent variable, and organizational commitment, as a dependent variable. Specifically, we examine women's work-life balance in the hospitality industry and compare women's organizational commitment under different levels of work-life balance. Then, we assess whether women's work-life balance and organizational commitment are associated with their sociodemographic characteristics (i.e., age, education, working years, and position level). Data were collected from 525 women employees in China. Multiple linear regression analyses were conducted to identify the relationship between work-life balance and organizational commitment. The results showed that work-life balance had a significant effect on organizational commitment. There was also a significant relationship between women's sociodemographic characteristics, work-life balance, and organizational commitment.