UTX deficiency in neural stem/progenitor cells results in impaired neural development, fetal ventriculomegaly, and postnatal death.

Recent studies have demonstrated that epigenetic modifications are deeply involved in neurogenesis; however, the precise mechanisms remain largely unknown. To determine the role of UTX (also known as KDM6A), a demethylase of histone H3K27, in neural development, we generated Utx-deficient mice in neural stem/progenitor cells (NSPCs). Since Utx is an X chromosome-specific gene, the genotypes are sex-dependent; female mice lose both Utx alleles (Utx ), and male mice lose one Utx allele yet retain one Uty allele, the counterpart of Utx on the Y chromosome (Utx ).

Brain regionalization by Polycomb-group proteins and chromatin accessibility.

During brain development, neural precursor cells (NPCs) in different brain regions produce different types of neurons, and each of these regions plays a different role in the adult brain. Therefore, precise regionalization is essential in the early stages of brain development, and irregular regionalization has been proposed as the cause of neurodevelopmental disorders. The mechanisms underlying brain regionalization have been well studied in terms of morphogen-induced expression of critical transcription factors for regionalization.

The Polycomb group protein Ring1 regulates dorsoventral patterning of the mouse telencephalon.

Dorsal-ventral patterning of the mammalian telencephalon is fundamental to the formation of distinct functional regions including the neocortex and ganglionic eminence. While Bone morphogenetic protein (BMP), Wnt, and Sonic hedgehog (Shh) signaling are known to determine regional identity along the dorsoventral axis, how the region-specific expression of these morphogens is established remains unclear. Here we show that the Polycomb group (PcG) protein Ring1 contributes to the ventralization of the mouse telencephalon.

Low level of hemoglobin A1c and the increased incidence of herpes zoster: longitudinal study.

Little is known about the association between glycemic status and herpes zoster. The aim of this study was to evaluate whether glycemic status, including both high and low hemoglobin A1c(HbA1c), is associated with subsequent herpes zoster. We conducted a retrospective longitudinal study in a large teaching hospital in Tokyo, Japan, from 2005 to 2016.

Therapeutic depletion of myeloid lineage leukocytes by adsorptive apheresis for psoriatic arthritis: Efficacy of a non-drug intervention for patients refractory to pharmacologics.

Psoriatic arthritis (PsA), a chronic inflammatory arthropathy associated with psoriasis, is an intractable immune disorder and refractory to pharmacological intervention. We assessed efficacy of selective depletion of myeloid lineage leukocytes in patients with PsA in a multicenter setting. A total of 20 patients with moderate to severe PsA refractory to conventional and biological disease-modifying antirheumatic drugs were included.

Nail findings in patients with psoriatic arthritis: A cross-sectional study with special reference to transverse grooves.

Background: Patients with psoriatic arthritis (PsA) commonly present with nail manifestations; however, little is known about these manifestations.

Objective: This study investigated whether nail findings can be used to discriminate between PsA and psoriasis without arthritis.

Methods: We performed a retrospective analysis of 118 patients with PsA and 974 patients with psoriasis without arthritis who visited St.

Overlap of IgG4-related Disease and Multicentric Castleman's Disease in a Patient with Skin Lesions.

A 59-year-old man presented with multiple dark red erythemas with induration, anemia, and polyclonal hypergammaglobulinemia. A skin biopsy revealed the infiltration of lymphocytes and plasma cells and he was initially diagnosed with multicentric Castleman's disease (MCD). Glucocorticoid treatment was only partially effective.

Prevalence and Clinical Characteristics of Psoriatic Arthritis in Japan.

Objective: To investigate the prevalence of psoriatic arthritis (PsA) in Japanese patients with psoriasis.

Methods: A multicenter, noninterventional, retrospective cross-sectional study was conducted at 3 tertiary care centers in Japan. PsA was diagnosed by rheumatologists based on clinical findings.

Merkel cell carcinoma showing regression after biopsy: Evaluation of programmed cell death 1-positive cells.

We present a cases of Merkel cell carcinoma (MCC) with Merkel cell polyomavirus that showed complete regression after biopsy. The exact mechanism of regression in MCC has remained unclear. It has been reported that apoptosis caused by T-cell immunity was implicated in the regression, and programmed cell death 1 (PD-1), an inhibitory receptor, was expressed in approximately half of tumor-infiltrating T cells in MCC.

Imaging of vascular tumors with an emphasis on ISSVA classification.

The International Society for the Study of Vascular Anomalies (ISSVA) classification is becoming the international standard classification system for vascular tumors and vascular malformations. The ISSVA classification strictly distinguishes vascular tumors (neoplastic lesions) from vascular malformations (non-neoplastic lesions) based on whether there is a proliferation of vascular endothelial cells present, and it is an extremely useful classification system for determining therapeutic measures. For vascular tumors, it is clinically significant in terms of discriminating infantile hemangioma and rapidly involuting congenital hemangioma, which are expected to spontaneously regress, from other vascular tumors requiring treatment.

Human papillomavirus-associated plantar epidermoid cysts: MR and US imaging appearance.

Epidermoid cysts are epithelial cysts that present as slow-growing intradermal or subcutaneous lesions. While recent epidemiological studies have isolated human papillomavirus (HPV) from plantar epidermoid cysts, imaging findings in HPV-associated epidermoid cysts have not been previously reported. We describe imaging findings in two patients with HPV-associated plantar epidermoid cysts.

Prevalence and clinical features of lymphedema in patients with lymphangioleiomyomatosis.

Background: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease predominantly affecting young women. Some of these patients develop lymphedema of the lower extremities and buttocks; however, neither the exact frequency of LAM-associated lymphedema nor the clinical features of such patients is well delineated.

Objectives: To document the frequency, features, and treatment of LAM-associated lymphedema.

[A case of mycoplasma hominis infection on chronic refractory lower leg ulceration caused by livedo vasculopathy].

Mycoplasma hominis is a common inhabitant of the human urogenital tract and most frequently causes diseases of the genitourinary tract. Extragenital M. hominis infections are uncommon, with almost all occurring in immunosuppressed persons or those predisposed due to surgery or trauma.

Therapeutic depletion of myeloid lineage leukocytes in patients with generalized pustular psoriasis indicates a major role for neutrophils in the immunopathogenesis of psoriasis.

Background: Generalized pustular psoriasis (GPP) is a chronic autoimmune disease characterized by fever, erythema, and neutrophilic pustules over large areas of the skin. GPP does not respond well to pharmacologic intervention.

Objective: We sought to assess efficacy of selectively depleting the myeloid lineage leukocytes in patients with GPP.

Experience with the use of hydroxychloroquine for the treatment of lupus erythematosus.

Hydroxychloroquine (HCQ) is generally used to treat systemic lupus erythematosus (SLE) in Western countries. However, chloroquine retinopathy became a problem in Japan, and chloroquine has never been used since then. Even now HCQ remains non-approved.

Magnetic resonance imaging for extramammary Paget's disease: radiological and pathological correlations.

Extramammary Paget's disease (EMPD) is a rare cutaneous neoplasm that is thought to represent intraepithelial adenocarcinoma developing in an area rich in apocrine glands. Magnetic resonance imaging (MRI) findings for this disease are not well established. We report three cases of pathologically confirmed EMPD in which MRI was performed before surgery.

Response to hydroxychloroquine in Japanese patients with lupus-related skin disease using the cutaneous lupus erythematosus disease area and severity index (CLASI).

Background: Hydroxychloroquine (HCQ) is not available in Japan. To design a clinical trial of HCQ, we evaluated the response to HCQ in Japanese patients with lupus-related skin disease using the cutaneous lupus erythematosus disease area and severity index (CLASI).

Methods: Twenty-seven patients with lupus-related skin disease who started HCQ at four hospitals were included.

Erythema nodosum associated with Yersinia enterocolitica infection.

We report a 74-year-old woman who presented to hospital with fever, vomiting, diarrhea, and 2 weeks later developed erythema nodosum (EN) on the legs, and was diagnosed with Yersinia enterocolitica infection based on her clinical course and microbiological examination of the stool. She also had a complication of pancreatitis, which made the diagnosis challenging. We should suspect infection by Y.

A histopathologic study of mechanic's hands associated with dermatomyositis: a report of five cases.

Background: Mechanic's hand is a defined specific skin eruption associated with dermatomyositis; there are few reports concerning its histopathology. As mechanic's hand clinically resembles hand eczema, it is important to distinguish between these two conditions.

Aim: To determine the characteristic clinical and histopathologic features of mechanic's hand, and to clarify whether these two conditions can be differentiated by histopathologic findings.

Neonatal lupus erythematosus in Japan: a review of the literature.

Neonatal lupus erythematosus (NLE) is an autoimmune disease associated with maternal anti-SS-A/Ro and anti-SS-B/La antibodies. NLE is characterized by cutaneous erythema, congenital heart block (CHB), hepatic dysfunction and hematological abnormalities. CHB is irreversible, usually requiring a pacemaker, but other symptoms are reversible and most disappear within 6 months in parallel with declining antibody levels.

Nodular fascitis in the thigh followed up using ultrasonography.

A 41-year-old woman noticed a mass on the inside of her right thigh in April 2003. Ultrasound examination revealed a mass measuring 18 mm × 10 mm × 10 mm in the subcutaneous fatty tissues. Its boundary was relatively clear, with rough edges.

Microscopic polyangiitis presenting urticarial erythema and Henoch-Schonlein purpura: two case reports.

Microscopic polyangiitis (MPA) is well known as a life-threatening member of a group of systemic vasculitis diseases. We report two cases of MPA. Case 1 was a 79-year-old-man who had been diagnosed with anti-neutrophil-cytoplasmic-antibody associated vasculitis (ANCA associated vasculitis) with alveolar hemorrhage and crescentric glomerulonephritis (CrGN).