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BACKGROUND AND AIMS: Arginase 1 deficiency (ARG1-D) is a ultrarare disease with manifestations that cause mobility and cognitive impairment that progress over time and may lead to early mortality. Diseases such as ARG1-D have a major impact also outside of the health care sector and the aim of this study was to estimate the current burden of disease associated with ARG1-D from a societal perspective. METHODS: The study was performed as a web-based survey of patients with ARG1-D and their caregivers in four European countries (France, Portugal, Spain, United Kingdom). The survey was distributed at participating clinics and included questions on e.g. symptoms (including the Gross Motor Function Classification System, GMFCS, and cognitive impairment), health care use, medication, ability to work, caregiving, and impact on health-related quality-of-life (HRQoL) using the EQ-5D-5L. RESULTS: The estimated total mean societal cost per patient and year was £63,775 (SD: £49,944). The cost varied significantly with both mobility impairment (from £49,809 for GMFCS level 1 to £103,639 for GMFCS levels 3-5) and cognitive impairment (from £43,860 for mild level to £99,162 for severe level). The mean utility score on the EQ-5D-5L for patients was 0.498 (SD: 0.352). The utility score also varied significantly with both mobility impairment (from 0.783 for GMFCS level 1 to 0.153 for GMFCS level 3-5) and cognitive impairment (from 0.738 for mild level to 0.364 for severe level). CONCLUSIONS: Similar to other studies of rare diseases, the study is based on a limited number of observations. However, the sample appear to be reasonably representative when comparing to previous studies of ARG1-D. This study shows that ARG1-D is associated with a high societal cost and significant impact on HRQoL. Earlier diagnosis and better treatment options that can postpone or withhold progression may therefore have a potential for improved HRQoL and savings for the patient, caregiver, and society.

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OBJECTIVE: This study examined the prevalence, severity and risk factors of anaemia among adult people living with HIV attending an antiretroviral therapy centre in Woreta Primary Hospital, Woreta town, Ethiopia. DESIGN: Hospital-based retrospective cross-sectional study. SETTING: Public health facility that provides HIV care in Woreta town. PARTICIPANTS: A total of 289 medical records of adults living with HIV/AIDS on highly active antiretroviral therapy from February 2019 to September 2023 at government hospital were reviewed using a systematic sampling method. The data were entered using Epi-info V.7 and exported to SPSS V.23 for data analysis. The data were analysed using bivariate and then multivariate logistic regression models in order to identify variables associated with anaemia. At the 95% CI level, variables having a p value of <0.05 were deemed to be statistically significant predictors. PRIMARY OUTCOME: Prevalence and severity of anaemia and its predictors among adult patients living with HIV on antiretroviral therapy in Woreta Primary Hospital. RESULTS: The total prevalence of anaemia was 31.5% (95% CI 28.9 to 33.8). The prevalence of mild, moderate and severe anaemia was 20.42%, 10.38% and 0.70%, respectively. Predictors independently linked with anaemia were female sex (adjusted OR (AOR) 1.08), age ≥40 years (AOR 1.21), lived with HIV >10 years (AOR 2.31), CD4 counts <200 cells/µL (AOR 3.81), non-suppressed viral load (AOR 1.28), history of opportunistic infections (AOR 1.54), WHO clinical stages III and IV (AOR 1.37 and 2.23, respectively) and history of parasitic infestation (AOR 2.81). CONCLUSIONS: A sizeable proportion of participants were found anaemic. Female sex, older age, longer periods lived with the virus, lower CD4 count, non-suppressed viral load, history of opportunistic infections, WHO clinical stages III and IV and history of parasitic infestation were the contributing factors. Therefore, to improve the anaemic status and living circumstances of patients living with HIV, immediate action on the linked factors is needed, such as monitoring for maintenance of CD4 counts >200 cells/µL and avoiding progression of HIV to the advanced WHO clinical stages, suppressed viral load, preventing opportunistic infections and parasitic infestation.

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Introduction: neuromeningeal tuberculosis (NMT) is a significant public health challenge in Morocco because of its acute severity and high mortality rates. This study aims to comprehensively evaluate the epidemiological, clinical, therapeutic, and disease progression characteristics of NMT in the Kenitra province. Methods: a retrospective analysis was conducted on the medical records of patients diagnosed with NMT at the Diagnostic Center of Tuberculosis and Respiratory Diseases in Kenitra from 2014 to 2017. Results: among the 33 identified NMT cases, predominantly males (57.6%) were affected, with an age range of 4-76 years and a median age of 25 years. Extrapulmonary manifestations were prevalent, constituting 78.8% (n=26) of all cases, with meningeal localization in 45.5% (n=15) of confirmed cases. Furthermore, 9.1% (n=3) of cases were associated with unconfirmed cerebral tuberculosis (TB), and 12% (n=4) exhibited miliary TB. Familial transmission and comorbidities were identified as significant factors in disease progression. More than half of the patients received standardized antibacillary treatment during hospitalization, which lasted between 9 and 12 months. Treatment outcomes were generally positive (73%), but a 12% case fatality rate and 15% loss to follow-up were observed. Conclusion: this study highlights the complex clinical and public health challenges posed by NMT in Morocco. It emphasizes the need for improved health strategies that not only increase public awareness but also enhance the accessibility and quality of diagnostic services and treatment options.

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Adherence to COPD treatment plays a crucial role in patient health outcomes. Understanding the correlation between treatment adherence and health status is vital for clinicians to develop effective disease management strategies. This study aimed to examine treatment adherence and its impact on the health status of COPD patients, specifically focusing on the effects of adhering to inhaled medications and breathing exercises. A cross-sectional study involving 420 outpatients diagnosed with COPD was conducted. The study encompassed administering questionnaires, observing patient breathing exercises, and measuring ventilatory function. Results showed that only 36.9% of participants adhered to treatment, with 44.7% following inhaler protocols and 36.9% regularly engaging in breathing exercises. The patients who were non-adherent exhibited a 0.3-fold increase in disease severity compared to the adherent group (p = .002). These findings suggest that consistent adherence to treatment, including inhaled medications and breathing exercises, may positively affect health status by reducing disease severity and airway obstruction in COPD patients. To address this, we recommend that home care clinicians implement a post-discharge assessment and intervention program. This program should focus on educating patients about the importance of treatment adherence and promoting behaviors that reinforce adherence to prescribed therapies.

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Several observational studies indicated a close association between prostate cancer and COVID-19. Nevertheless, whether there was a causal effect between them remained obscure. In this study, we aimed to detect the potential association between genetically determined prostate cancer and the risk of COVID-19. A bidirectional Mendelian randomization (MR) study was conducted to investigate the causal links between prostate cancer and COVID-19. Inverse variance weighted (IVW), MR-Egger, weighted median, weighted mode, and simple mode were used to estimate the causality. PIVW < 0.05 was considered statistically significant. The top single nucleotide polymorphisms associated with prostate cancer cases (n = 79,148) and COVID-19 cases (n = 54,071) were extracted from the summary genome-wide association study data obtained from a publicly available database. Cochran Q test was utilized to calculate the degree of heterogeneity. Additionally, we validated our findings in another replication cohort. In the forward MR study, the IVW method suggested no evidence for the causal effect of prostate cancer on COVID-19 susceptibility (OR = 1.00, 95%CI: 0.98-1.02, P = .978), COVID-19 hospitalization (OR = 1.05, 95%CI: 0.99-1.09, P = .054), and COVID-19 severity (OR = 1.03, 95%CI: 0.95-1.11, P = .453). Reverse MR analysis also showed no causal effect of COVID-19 diverse phenotypes on prostate cancer. Furthermore, the result of the East Asian cohort study was consistent with the European cohort. Sensitivity analysis showed no evidence of pleiotropy and heterogeneity. We did not discover genetic evidence to substantiate causal links between prostate cancer and COVID-19. Large-scale randomized controlled trials were required to enhance a more profound comprehension of this relationship in the future.

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Vitamin D plays a role in inflammatory skin conditions and can improve them. Hidradenitis suppurativa (HS) is an autoinflammatory chronic skin disease in which most patients exhibit a hypovitaminosis D. However, it is uncertain whether vitamin D supplementation could relieve the severity of HS. A systematic literature search of PubMed and Web of Science was conducted on 4 September 2023. Studies that investigated vitamin D and its potential implications for the severity of HS were included. In contrast, studies that focused on the prevalence of vitamin D deficiency were excluded, as well as studies on syndromic HS. Seven studies with a total of 575 patients were included in the qualitative synthesis, of which 3 utilized a cross-sectional design, 2 were pilot studies, 1 a controlled cohort study, and 1 a prospective case-control study. In all included studies, HS patients were vitamin D deficient. There was evidence indicating that serum vitamin D levels negatively correlated with the severity of the disease, and at least suggestive evidence that vitamin D supplementation could have a positive impact on the course of HS. To better understand these correlations, conducting a randomized controlled trial study on vitamin D and its effects on HS severity is imperative.

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BACKGROUND: Inflammation following transcatheter aortic valve implantation (TAVI) is associated with an increased risk of adverse outcomes. The aim of this study was to compare the inflammatory response between low radial force valves (Acurate neo2, Boston Scientific) and high radial force valves (Evolut R/Pro, Medtronic; SAPIEN Edwards Lifesciences; and Myval, Meril valves). METHODS: We conducted a retrospective study of patients with severe aortic stenosis treated with TAVI between 2021 and 2022. The primary endpoint was the difference in the inflammatory response between low radial force valves and high radial force valves, measured as the difference between post-procedural and pre-procedural high-sensitivity C-reactive protein levels (hsCRP delta). RESULTS: A total of 114 patients were included, of which 65 patients (57%) received a low radial force valve. The hsCRP delta was lower in the low radial force valve group compared to the high radial force valve group (8.7 [2.1-15.6] mg/L vs. 18.8 mg/dL [6.4-19] mg/L; P=0.003), due to a lower post-implantation hsCRP (8.9 [5.45-19.6] mg/L vs. 15.8 [9.8-27.3] mg/L; P=0.013). The incidence of new left bundle branch block (LBBB) after TAVI was lower in the low radial force valve group compared to the high radial force valve group (11 [17%] vs. 18 [37%]; P=0.020). CONCLUSIONS: Low radial force TAVI prostheses were associated with a lower inflammatory response, and a lower incidence of new LBBB compared to the radial force valve group, suggesting that inflammation may contribute to the increased risk of conduction disturbances.

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BACKGROUND: Degenerative severe aortic valve stenosis (AS) is increasingly prevalent in the aging population, leading to the adoption of transcatheter aortic valve replacement (TAVR) as a less invasive alternative. While TAVR indications have expanded, the procedure is associated with a substantial incidence of major adverse cardiac events (MACE). The study aims to establish a preoperative risk-stratification system for TAVR candidates based on Sokolow-Lyon voltage (SLV) and other relevant factors. METHODS: A total of 181 consecutive patients who underwent TAVR were retrospectively reviewed. Baseline characteristics, preoperative electrocardiogram (ECG) and echocardiography findings, and TAVR procedures were assessed. Low SLV (<3.5 mV) was defined based on ECG measurements. RESULTS: Baseline characteristics revealed a mean age of 84 years, with 71.8% females. The two-year incidence of MACE defined as a composite of cardiac death and hospitalization due to heart failure, was 11.6%, significantly higher in the low SLV group. Low SLV emerged as an independent prognostic factor. The Tokyo Bay Risk (TBR) Score, including low SLV, Body Mass Index <18.5 kg/m2, and previous coronary artery disease, effectively stratified MACE risk. Higher TBR scores (2 or 3) correlated with increased MACE risk. CONCLUSIONS: Patients with low SLV in pre-procedural ECG demonstrated a heightened risk of two-year MACE. The TBR score, incorporating low SLV, proved valuable for preoperative risk assessment. Careful consideration of TAVR indications, along with TBR score integration, is crucial for optimizing outcomes.

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OBJECTIVE: To compare a 0-10 physician subglobal estimate of inflammatory activity (DOCINF) on a RheuMetric checklist to a formal swollen joint count (SJC) and other rheumatoid arthritis (RA) Core data set measures in a disease activity score 28 (DAS28), clinical disease activity index (CDAI), and simplified disease activity index (SDAI) in patients with RA, recognizing that RA measures, index scores and physician global assessment (DOCGL) may be elevated by joint damage and patient distress, independent of inflamamtory activity, and that formal joint counts are not recorded at most routine care visits. METHODS: A cross-sectional study at a routine care visit included a RheuMetric checklist completed by a rheumatologist, with four 0-10 visual numeric scales (VNS) for DOCGL, and three sub-global estimates for inflammatory activity (DOCINF), joint damage (DOCDAM), and patient distress (DOCDIS), e.g., anxiety, depression, and/or fibromyalgia, etc. Variation in SJC according to other individual measures in the DAS28, CDAI, and SDAI, and in the indices was analyzed using Spearman correlation coefficients and regressions with and without DOCINF as an independent variable. RESULTS: In 173 patients with long disease duration, regressions which included individual DAS28, CDAI or SDAI measures and added DOCINF as an independent variable explained 46 % of variation in SJC, compared to 23 % if DOCINF was not included. DOCINF was more explanatory of SJC than even the DAS28 or CDAI indices themselves, although SJC is a component of these indices. CONCLUSION: In routine care RA patients with long disease duration, DOCINF depicts SJC as effectively as RA indices which require 90-100 seconds to record, and may provide a feasible, informative quantitative clinical measure without recording formal joint counts.

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BACKGROUND: A consensus definition for active sacroiliitis by MRI, mentioned in the Assessment of SpondyloArthritis International Society (ASAS) classification criteria for axial spondyloarthritis (axSpA), was published in 2009 and included a qualitative and quantitative MRI cut-off component. In 2021, updates to the quantitative component were preliminarily proposed. This post hoc analysis of part A of the phase 3 open-label C-OPTIMISE study (NCT02505542) explores the differences by applying the 2009 and preliminary 2021 inflammatory cut-offs on clinical outcomes of axSpA patients treated with certolizumab pegol. METHODS: Baseline MRI scans were used to classify 657 patients as MRI+ or MRI- according to the quantitative components of the 2009 and preliminary 2021 MRI cut-offs for inflammatory lesions. Clinical outcomes, including ASAS ≥40% improvement (ASAS40), Ankylosing Spondylitis Disease Activity Score and Bath Ankylosing Spondylitis Disease Activity Index, were reported to week 48. RESULTS: Across all analysed outcomes, 2009 MRI+ and preliminary 2021 MRI+ subgroups showed similar results. Notably, clinical outcomes for the discordant group (2009 MRI+but preliminary 2021 MRI- group; 53/657 [8.1%]) were close to those seen in MRI- patients according to either 2009 or preliminary 2021 inflammatory cut-offs, and notably different from the totality of MRI+ subgroups. CONCLUSION: This analysis suggests that the preliminary 2021 cut-offs for MRI inflammatory lesions may slightly increase the specificity of the quantitative part of the 2009 MRI inflammatory lesion definition. The effects of the updated MRI cut-offs need to be assessed on the basis of efficacy outcomes and with the inclusion of aspects of structural changes. TRIAL REGISTRATION NUMBER: NCT02505542.

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In this study, we aimed to examine the relationship between the serum cytokine levels of patients with pemphigus vulgaris (PV) and the Pemphigus Disease Area Index (PDAI), along with the presence of anti-desmoglein (Dsg) 1 antibody, anti-Dsg3 antibody and co-infection among patients with pemphigus vulgaris. This retrospective study included 62 PV patients and 59 healthy individuals who attended the Second Affiliated Hospital of Kunming Medical University from November 2014 to November 2022. The serum concentrations of cytokines and chemokines were assessed using the Luminex 200 System (a high-throughput cytokine detection method). Additionally, anti-Dsg1 and anti-Dsg3 antibodies were determined through enzyme-linked immunosorbent assay, while disease severity was evaluated using the PDAI scoring system. The PV group exhibited elevated levels of Th1 cytokines (such as interleukin (IL)-1RA, IL-1ß, IL-2, IL-12p70, GM-CSF, TNF-α, IL-18, IFN-γ), Th2 cytokines (IL-5, IL-10, IL-13) and Th17/Th22-related cytokines (IL-17A, IL-22) compared to the healthy control group (p < 0.05). Conversely, the levels of chemokines (macrophage inflammatory protein-1 alpha (MIP-1α), stromal cell-derived factor-1 alpha (SDF-1α), interferon-inducible protein-10 (IP-10), Regulated on Activation in Normal T-Cell Expressed And Secreted (RANTES), growth-regulated on-gene-alpha (GRO-α), MIP-1ß) and Th2 (IL-31) were lower in the PV group compared to the healthy control group (p < 0.05). No significant differences were observed in other cytokines and chemokines (p > 0.05). Additionally, IL-7, IFN-γ, IL-18 and GRO-α showed positive correlations with PDAI, IL-6 correlated positively with anti-Dsg3 antibody levels, and IL-12p70, IL-18, and IFN-γ correlated positively with anti-Dsg1 antibody levels. Furthermore, IL-15 exhibited a positive association with skin infections. PV patients have elevated levels of various cytokines and chemokines, and there are different degrees of elevation in cytokines and chemokines associated with the activation of various T cell subsets. PDAI and the Dsg1 antibody levels are mainly related to the Th1-related cytokines.

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The progression of vitiligo is unpredictable, emphasizing the need to identify periods of activity early for tailored treatment. Confetti-like depigmentation, hypochromic areas/borders and Koebner's phenomenon are clinical visible signs associated with disease activity in vitiligo. However, their true clinical significance requires further investigation using standardized scoring systems. In the present study, the Vitiligo Signs of Activity Score (VSAS) and the Vitiligo Disease Activity Score (VDAS) were applied to assess disease activity signs and disease progression over time, respectively. Individuals with at least one disease activity sign had a 76.9% likelihood of having active vitiligo. The simultaneous presence of multiple signs or their appearance across body locations increased the likelihood to 94% and 87.1%, respectively. Patients with no disease activity signs had a 60.3% likelihood of having stable disease. This research provides an important nuance about the disease activity signs in vitiligo, which may help guide disease management. The risk of active disease increases when at least two types of vitiligo activity signs are present, or when they are present on different body locations. However, the absence of vitiligo activity signs does not rule out active vitiligo.

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Limited research suggests that certain viruses reactivate in severe-acute-respiratory-syndrome-coronavirus 2 infection, contributing to the development of postacute sequelae of COVID-19 (PASC). We examined 1083 infected individuals from a population-based cohort, and assessed differences in plasma immunoglobulin (Ig)G and immunoglobulin A levels against Epstein-Barr virus (EBV), cytomegalovirus, varicella zoster virus (VZV), BK polyomavirus, KI polyomavirus, WU polyomavirus (WUPyV), respiratory syncytial virus, and Adv-36 according to the severity of previous COVID-19 and PASC history. Individuals who had experienced severe COVID-19 had higher antibody responses to latent viruses. Ever PASC, active persistent PASC, and PASC with neuropsychiatric symptoms were associated with higher immnoglobulin G to EBV early antigen-diffuse, VZV, and WUPyV even among individuals without previous severe COVID-19.

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OBJECTIVES: To explore the agreement between patient-reported flare status and clinically significant flare status in patients with rheumatoid arthritis (RA) in sustained remission. METHOD: Patients with RA in remission for ≥12 months on stable treatment were included in the ARCTIC REWIND tapering trials and pooled 12-month data used in current analyses. Patient-reported flare status was assessed according to the Outcome Measures in Rheumatology flare questionnaire; 'Are you having a flare of your RA at this time?' (yes/no). A clinically significant flare was defined as a combination of Disease Activity Score (DAS) >1.6, increase in DAS of ≥0.6 and 2 swollen joints, or the rheumatologist and patient agreed that a clinically significant flare had occurred. Agreement coefficient, sensitivity, specificity and predictive values of patient-reported flare status with regard to clinically significant flare status were determined. RESULTS: Of 248 patients, 64% were women, age 56.1 (11.8) years, disease duration 4.1 (2.8-7.4) years, DAS 0.8 (0.3). 35% of patients reported a flare at least once, clinically significant flares were recorded in 21%. 48/53 clinically significant flares (91%) led to an intensification of disease-modifying antirheumatic drugss. In 621/682 (91%) visits, patient-reported and clinically significant flare status were in agreement, agreement coefficient 0.89. Sensitivity and specificity were both 91%, positive predictive value of patient-reported flare status 46% and negative predictive value 99%. CONCLUSION: Among patients in sustained remission, patient-reported flare status was accurate in ruling out a clinically significant flare. About half of the patient-reported flares were assessed to be clinically significant. These findings support a potential for using patient-reported flare status in remote monitoring of patients with RA in sustained remission.

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