UNASSIGNED: Human T-cell leukemia virus type 1 (HTLV-1) carriers may develop adult T-cell leukemia (ATL), or HTLV-1-associated myelopathy (HAM)/tropical spastic paraparesis (TSP). The evidence is limited regarding other diseases potentially associated with HTLV-1, such as HTLV-1-associated autoimmune diseases.
UNASSIGNED: We summarized the available information on complications associated with HTLV-1 infection.
UNASSIGNED: Previous studies showed that HTLV-1 carriers have an increased incidence of collagen diseases including Sjögren\'s syndrome, as well as dysthyroidism, diabetes mellitus, and atherosclerosis. Furthermore, cognitive deficits are observed in asymptomatic carriers and in symptomatic carriers who develop HAM/TSP. It is hypothesized that altered immunoregulation occurs as a result of persistent HTLV-1 infection. A systematic review and meta-analysis demonstrated that HTLV-1 infection itself has an adverse impact on overall survival. ATL alone cannot entirely explain the adverse impact of HTLV-1 infection on overall mortality, because the incidence is low, and therefore HTLV-1-associated diseases as a whole may contribute to the inferior clinical outcome. However, there are insufficient data to determine the causal relationship between HTLV-1 infection and each complication. While non-cancerous events linked to HTLV-1 infection are not fatal, they are likely to reduce quality of life. Large prospective studies should be conducted by international collaborators.

Vascular Ehlers-Danlos syndrome is a fatal disease caused by a type III collagen mutation that can result in the rupture of blood vessels, the intestinal tract, and/or the uterus. Despite being the most severe form of Ehlers-Danlos syndrome, it is not well known in the pediatric context because it rarely presents serious complications in childhood. In this case, the patient experienced a subclavian artery rupture triggered by sneezing, which was initially managed with an endovascular stent. However, the descending aorta subsequently ruptured, and the patient died. Traditionally, surgical or endovascular treatments have been avoided due to the inherent fragility of blood vessels. Nevertheless, favorable outcomes have been documented with a wait-and-see surgical approach or endovascular treatment, especially when the diagnosis precedes the onset of vascular complications. Notably, celiprolol, a partial β2-agonist and β1-blocker, has demonstrated efficacy in preventing vascular complications. Therefore, early diagnosis plays a pivotal role. Raising awareness about this syndrome, along with its management and prophylaxis, holds the potential to enhance the survival rate.

Systemic lupus erythematosus is known to cause autoimmune hyperlipidemia. We present a case in which hypertriglyceridemia was exacerbated by dermatomyositis. A 53-year-old woman with a medical history of undertreated hypertriglyceridemia complained of dyspnea and arthralgia. Despite the treatment, her triglyceride levels increased concurrently with the onset of arthralgia. She had characteristic skin manifestations and tested positive for anti-Jo-1 autoantibodies, leading to a diagnosis of dermatomyositis. Chronic inflammation may result in elevated triglyceride levels. When dermatomyositis is diagnosed, evaluating lipid abnormalities is important.

Oral submucous fibrosis (OSMF) is a chronic, progressive, insidious premalignant disease with multifactorial etiology affecting any part of the oral cavity and sometimes the pharynx by triggering a rapid onset of trismus and dysphagia due to stiffness at the lips, cheek, pharynx, and upper oesophageal region. Submucous fibrosis resembles many auto-immune, dermatological, mucocutaneous, and fibrotic lesions that include scleroderma, amyloidosis, iron deficiency anemia, and systemic or generalized fibromatosis clinically and histologically. Several authors established an association between oral submucous fibrosis and scleroderma with predominant oral manifestations on the basis of similarity in clinical and histological characteristics despite different pathogenesis and prognostic aspects. Scleroderma or systemic sclerosis is an autoimmune connective tissue disorder clinically manifested as fibrosis of the skin, blood vessels, and visceral organs with or without the involvement of the oral cavity. Thus, understanding the disease mechanism, appropriate early diagnosis, and clinical management of these two entities play an important role in disease prognosis and treatment outcomes. The present review was carried out to briefly present a concise overview of the etiopathogenesis, clinical, histological, diagnosis, and management aspects of OSMF and scleroderma based on the available literature, with special emphasis on similarities and differences between these two entities subsequently aiding in appropriate treatment planning.

Combined cases of hypertrophic obstructive cardiomyopathy (HOCM) and pulmonary arterial hypertension (PAH) are rare and have a management dilemma. Although preload is crucial in the management of HOCM, anti-PAH agents dramatically change the preload, leading to improving or worsening heart failure in patients with HOCM. We had a 74-year-old woman with Sjogren-syndrome-associated PAH. Her heart failure worsened following the initiation of anti-PAH agents due to an incremental preload on the left ventricle, whereas HOCM clinically developed following the termination of anti-PAH agents and progressing anorexia due to the progression of the left ventricular outflow obstruction. Careful monitoring of the left ventricular outflow obstruction during initiation/termination of anti-PAH agents and medical intervention to the HOCM are highly recommended.

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Psoriasis is a chronic inflammatory skin disease characterized by IL-17-dominant abnormal innate and acquired immunity, and the hyperproliferation and aberrant differentiation of epidermal keratinocytes, and comorbid arthritis or cardiometabolic diseases. This Special Issue presented updated information on pathogenesis, comorbidities, and therapy of psoriasis. The pathogenesis of psoriasis may involve the dysfunction of indoleamine 2,3-dioxygenase 2 or of UBA domain containing 1-mediated regulation of CARD14/CARMA2sh. The blood cells of psoriasis patients showed the enhanced oxidative stress/autophagy flux and decreased 20S proteasome activity. Elafin, clusterin, or selenoprotein P may act as biomarkers for psoriasis and comorbid metabolic diseases. The proteomic profile of psoriasis lesions showed the dysfunction of dermal fibroblasts; up-regulation of proinflammatory factors and signal transduction or down-regulation of structural molecules. The skin inflammation in psoriasis may populate certain gut bacteria, such as Staphylococcus aureus and Streptococcus danieliae, which worsen the skin inflammation in turn. The psoriasis-associated pruritus may be caused by immune, nervous, or vascular mechanisms. In addition to current oral treatments and biologics, a new treatment option for psoriasis is now being developed, such as retinoic-acid-receptor-related orphan nuclear receptor γt inhibitors, IL-36 receptor antagonist, or aryl hydrocarbon receptor agonist. Antimicrobial peptides and innate immune cells, involved in the pathogenesis of psoriasis, may be novel therapeutic targets. The pathomechanisms and responses to drugs in collagen diseases are partially shared with and partially different from those in psoriasis. Certain nutrients can exacerbate or regulate the progress of psoriasis. The articles in this Special Issue will encourage attractive approaches to psoriasis by future researchers.

Collagen disease is an important cause of aortic regurgitation (AR). Although aortic valve surgery is recommended for patients with AR and depressed left ventricular (LV) function, there have been few reports about risk factors for LV dysfunction in patients with AR concomitant with collagen disease.
We conducted this study at Kumamoto University Hospital in Japan. A total of 41 patients who had moderate to severe AR and concomitant collagen disease between January 2014 and December 2019 were enrolled. With regard to baseline characteristics, there were no significant differences in the type of collagen disease or El Khoury class between patients with preserved LV function and those with reduced LV function. B-type natriuretic peptide (375.2 [257.9-3852.6]pg/ml vs. 64.0 [33.3-133.6]pg/ml, p < 0.01), C-reactive protein (CRP) levels (2.00 [1.24-9.14]mg/dl vs. 0.19 [0.06-0.52]mg/dl, p < 0.01) and neutrophil-to-lymphocyte ratio (7.94 [3.30-9.98] vs. 3.94 [1.83-5.58], p < 0.05) were significantly higher, and hemoglobin level (10.7 ± 1.6 g/dl vs. 12.2 ± 1.8 g/dl, p < 0.05) was significantly lower in patients with reduced LV function than in those with preserved LV function. There were no significant differences in any variables associated with severity and features of AR. Multivariable logistic regression analysis showed that high CRP levels (≥1.0 mg/dl) were independently and significantly associated with LV dysfunction in patients with AR and collagen disease, even after adjusting for the severity of AR (odds ratio: 95.7; 95% confidence interval: 4.6-1990.4, p < 0.01).
Uncontrolled inflammation, represented as high CRP levels, is an important marker for LV dysfunction in patients with AR and collagen disease.

UNASSIGNED: The aim of the current study was to examine the relationship between the straight leg raising (SLR) repetition count and both the knee extension strength (KES) and walking independence.
UNASSIGNED: We enrolled 106 inpatients aged ≥20 years with collagen disease in a cross-sectional study. We measured the SLR repetition count, KES, and walking independence of each participant. The correlations between the SLR repetition count and KES/walking independence were then examined. Furthermore, patients were divided into three groups depending on their SLR repetition count (low, medium, or high), and the differences among the groups were analyzed.
UNASSIGNED: A moderately significant correlation was found between the SLR repetition count and KES (right: r=0.46, P<0.01; left: r=0.55, P<0.01). Moreover, there was a strong correlation between the maximum SLR repetition count and walking independence (r=0.74, P<0.01). Differences in KES and walking independence were observed among the SLR repetition groups (P<0.01). KES and walking independence in the group with a low repetition count were 0.08±0.04 kgf/kg and 1 (1-4) point, whereas the values in the group with a medium repetition count were 0.25±0.08 kgf/kg and 5 (1-7) points and those in the group with a high repetition count were 0.40±0.13 kgf/kg and 7 (4-7) points.
UNASSIGNED: The SLR repetition count is related to KES and walking independence. SLR repetition counts can be used in the clinical setting for the assessment of lower limb strength and walking independence.

UNASSIGNED: Acute-onset diffuse interstitial lung disease (AoDILD) includes acute exacerbation of interstitial lung disease (ILD), drug-induced ILD, and Pneumocystis pneumonia in collagen diseases patients. As AoDILD causes a poor prognosis in collagen disease patients, the pathogenesis of AoDILD should be investigated. Exome sequencing studies revealed that rare variants were detected to be causative in some diseases. Recently reported upregulated genes in acute exacerbation of idiopathic pulmonary fibrosis could provide candidate genes for restricted exome analysis of AoDILD in collagen disease. Here, we investigated rare variants in the coding and boundary regions of these candidate genes in AoDILD.
UNASSIGNED: Deleterious rare variants in the coding and boundary regions of the candidate genes were analyzed by exome sequencing and the deleterious rare allele frequencies in AoDILD were compared with those of controls.
UNASSIGNED: A significant association was detected for deleterious rare alleles in NPL (P = .0044, P c = .0399, odds ratio [OR] = 10.05, 95% confidence interval [CI] = 3.01-33.55). A deleterious rare allele frequency in the 9 candidate genes (P = .0011, OR = 7.17, 95% CI = 2.80-18.33) was also increased in AoDILD in multigene panel analysis. The Krebs von den Lungen-6 (KL-6) levels in AoDILD patients with deleterious rare alleles were tended to be lower than those without (P = .0168, P c = .1509).
UNASSIGNED: The deleterious rare alleles in NPL were associated with AoDILD. In addition, the deleterious rare allele frequency in the 9 candidate genes was also increased in AoDILD. The deleterious rare alleles might contribute to the pathogenesis of AoDILD.