Establishment and gene expression analysis of disease-derived induced pluripotent stem cells of scleroderma.

Background: We recently generated induced pluripotent stem cells (iPSCs) from cultured dermal fibroblasts of systemic sclerosis (SSc-iPSC) to study the disease mechanisms.

Objective: In the present study, we have performed gene expression analysis using cultured SSc dermal fibroblasts, SSc-iPSC, and fibroblasts re-differentiated from SSc-iPSC (SSc-iPSC-FB).

Methods: mRNA and protein levels of collagen and integrins were analyzed using PCR array, PCR, immunoblotting, and immunofluorescence.

Cytokine expression profiles in the sera of cutaneous squamous cell carcinoma patients.

We focused on the interaction of cytokines in squamous cell carcinoma (SCC), and determined the expression profile of multiple cytokines in the serum of each patient with SCC in the present study. Serum samples were obtained from 12 SCC patients and 7 normal subjects. Four cytokines (IFN-γ, IL-6, GM-CSF, and TGF-β) were selected because they are reported to be involved in keratinocyte proliferation and SCC progression.

Long non-coding RNA TSIX is upregulated in scleroderma dermal fibroblasts and controls collagen mRNA stabilization.

Long non-coding RNAs (lncRNAs) are thought to have various functions other than RNA silencing. We tried to evaluate the expression of lncRNAs in patients with systemic sclerosis (SSc) and determined whether lncRNAs controls collagen expression in dermal fibroblasts. lncRNA expression was determined by real-time PCR and in situ hybridization.

EBI3 Downregulation Contributes to Type I Collagen Overexpression in Scleroderma Skin.

IL-12 family cytokines are implicated in the pathogenesis of various autoimmune diseases, but their role in the regulation of extracellular matrix expression and its contribution to the phenotype of systemic sclerosis (SSc) remain to be elucidated. Among the IL-12 family members, IL-35 decreases type I collagen expression in cultured dermal fibroblasts. IL-35 consists of p35 and EBI3 subunits, and EBI3 alone could downregulate the protein and mRNA expression of type I or type III collagen in the presence or absence of TGF-β costimulation.

Streptococcus pulmonary empyema after varicella infection in a serologically immunocompetent boy.

Varicella zoster virus (VZV) is the etiologic agent of varicella, and it remains common among children in Japan due to low vaccination rates. It can cause a variety of serious and life-threatening complications. Generally, the most frequent complication of varicella in healthy children is bacterial superinfection, but empyema after VZV infection is a rare condition.

Life-threatening QT prolongation in a boy with attention-deficit/hyperactivity disorder on atomoxetine.

As a noncentral nerve-stimulating agent blocking reuptake of noradrenalin, atomoxetine is used for treatment of attention-deficit/hyperactivity disorder (ADHD). Because it has less potential for addiction and abuse and improves core symptoms of ADHD, it is commonly prescribed in many children and adolescents internationally. Its common side effects include headache, abdominal pain, decreased appetite, and weight loss.

Impaired IL-17 signaling pathway contributes to the increased collagen expression in scleroderma fibroblasts.

Among IL-17 families, IL-17A and IL-17F share amino acid sequence similarity and bind to IL-17R type A. IL-17 signaling is implicated in the pathogenesis of various autoimmune diseases, but its role in the regulatory mechanism of extracellular matrix expression and its contribution to the phenotype of systemic sclerosis (SSc) both remain to be elucidated. This study revealed that IL-17A expression was significantly increased in the involved skin and sera of SSc patients, whereas the IL-17F levels did not increase.

Down-regulation of mir-424 contributes to the abnormal angiogenesis via MEK1 and cyclin E1 in senile hemangioma: its implications to therapy.

Background: Senile hemangioma, so-called cherry angioma, is known as the most common vascular anomalies specifically seen in the aged skin. The pathogenesis of its abnormal angiogenesis is still unclear.

Methodology/principal Findings: In this study, we found that senile hemangioma consisted of clusters of proliferated small vascular channels in upper dermis, indicating that this tumor is categorized as a vascular tumor.

Pediatric kidney transplantation is safe and available for patients with urological anomalies as well as those with primary renal diseases.

The aim of the current study was to evaluate long-term outcomes of pediatric live kidney transplantation in patients with genitourinary anomalies relative to those with primary kidney diseases. The study included 35 pediatric patients who received a live kidney transplantation during the last 25 yr (28 males, six females). Median age at the time of transplantation was nine yr (range 1-15 yr), and the median follow-up period was 151 months (range 6-239 month).

Elevation of serum Krebs von den Lunge-6 levels in patients with tubulointerstitial nephritis and uveitis syndrome.

Background: Tubulointerstitial nephritis and uveitis (TINU) syndrome is characterized by a combination of idiopathic acute tubulointerstitial nephritis and uveitis. Krebs von den Lunge-6 (KL-6) is a human glycoprotein secreted by type II alveolar cells in the lung, and its serum levels increase in patients with pneumonia of various causes, as well as ocular sarcoidosis. The aim of the present study is to quantify serum KL-6 levels in patients with TINU syndrome, which has no pulmonary and sarcoid lesions, and elucidate the usefulness of KL-6 for the diagnosis and follow-up of this syndrome.

Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.

Cranioectodermal dysplasia (CED) is a rare autosomal recessive disease with characteristic craniofacial, skeletal, and ectodermal-derived tissue abnormalities. In this disease, tubulointerstitial nephropathy (TIN) has been reported as one of the life-threatening combinations. Here we report a sporadic case of CED showing signs of renal failure during the perinatal period.

Glomerular localization of erythropoietin receptor mRNA and protein in neonatal and mature mouse kidney.

Background/aims: Erythropoietin (EPO) possesses well-established hematopoietic properties as the primary stimulator of red blood cell formation by binding to its receptor (EPO-R). Recent evidence suggests pathophysiological roles of EPO in several non-hematopoietic tissues including kidney. Our aim was to further clarify the glomerular localization of EPO-R in normal kidney, as well as changes in its expression during glomerulogenesis.

[Two cases of autosomal dominant polycystic kidney diseases who presented bilateral enlarged kidneys and severe hypertension in the neonatal period].

Autosomal dominant polycystic kidney disease(ADPKD) is rarely observed in the neonatal period. We report 2 cases of ADPKD who showed bilateral enlarged, hyperechoic kidneys and severe hypertension. It is difficult to differentiate ADPKD from autosomal recessive polycystic kidney disease (ARPKD) based on the initial clinical presentations in this period.