Severe combined immunodeficiency diagnosis and genetic defects.

Severe combined immunodeficiency (SCID) is a rare and life-threatening genetic disorder that severely impairs the immune system's ability to defend the body against infections. Often referred to as the "bubble boy" disease, SCID gained widespread recognition due to the case of David Vetter, a young boy who lived in a sterile plastic bubble to protect him from germs. SCID is typically present at birth, and it results from genetic mutations that affect the development and function of immune cells, particularly T cells and B cells.

Receptor-Associated Prorenin System in the Trabecular Meshwork of Patients with Primary Open-Angle Glaucoma and Neovascular Glaucoma.

The receptor-associated prorenin system (RAPS) is associated with several pathologic conditions, including diabetic retinopathy, age-related macular degeneration, and uveitis. Here, we show the involvement of RAPS in the trabecular meshwork (TM) from patients with primary open-angle glaucoma (POAG) and neovascular glaucoma (NVG) due to proliferative diabetic retinopathy. Anterior chamber (AC) levels of prorenin significantly increased in both POAG and NVG, as did those of angiotensin II in NVG alone, compared to cataract.

A Novel Mutation in the Gene in a CGD Patient With Chronic Recurrent Pneumopathy.

Chronic granulomatous disease (CGD) is an inherited, genetically heterogeneous disease characterized by defective phagocytic cell microbicidal function, leading to increased susceptibility to bacterial and fungal infections. CGD is caused by mutations in components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, which is responsible for reactive oxygen species production during phagocytosis. Mutations in the neutrophil cytosolic factor 2 () gene account for <5% of all cases.

Suppression of Choroidal Neovascularization and Fibrosis by a Novel RNAi Therapeutic Agent against (Pro)renin Receptor.

The receptor-associated prorenin system refers to the pathogenic mechanism whereby prorenin binding to (pro)renin receptor [(P)RR] dually activates the tissue renin-angiotensin system (RAS) and RAS-independent signaling, and its activation contributes to the molecular pathogenesis of various ocular diseases. We recently developed a new single-stranded RNAi agent targeting both human and mouse (P)RR ((P)RR-proline-modified short hairpin RNA [(P)RR-PshRNA]), and confirmed its therapeutic effect on murine models of ocular inflammation. Here, we investigated the efficacy of (P)RR-PshRNA against laser-induced choroidal neovascularization (CNV) and subretinal fibrosis, both of which are involved in the pathogenesis of age-related macular degeneration (AMD).

A C126R Mutation in Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis.

Chronic granulomatous disease (CGD) is an innate immune deficiency of phagocytic cells caused by mutations that affect components of the NADPH oxidase system, with resulting impairment in reactive oxygen species production. Patients with CGD are susceptible to recurrent infections and hyperinflammatory responses. Mutations in lead to the X-linked form of CGD and are responsible for ~ 70% of cases.

A Novel Single-Strand RNAi Therapeutic Agent Targeting the (Pro)renin Receptor Suppresses Ocular Inflammation.

The receptor-associated prorenin system (RAPS) refers to the pathogenic mechanism whereby prorenin binding to the (pro)renin receptor [(P)RR] dually activates the tissue renin-angiotensin system (RAS) and RAS-independent intracellular signaling. Here we revealed significant upregulation of prorenin and soluble (P)RR levels in the vitreous fluid of patients with uveitis compared to non-inflammatory controls, together with a positive correlation between these RAPS components and monocyte chemotactic protein-1 among several upregulated cytokines. Moreover, we developed a novel single-strand RNAi agent, proline-modified short hairpin RNA directed against human and mouse (P)RR [(P)RR-PshRNA], and we determined its safety and efficacy in vitro and in vivo.

PAFR activation of NF-κB p65 or p105 precursor dictates pro- and anti-inflammatory responses during TLR activation in murine macrophages.

Platelet-activating factor receptor (PAFR) is a G protein-coupled receptor (GPCR) implicated in many diseases. Toll-like receptors (TLRs) play a critical role in shaping innate and adaptive immune responses. In this study, we investigated whether PAFR signaling changes the macrophages responsiveness to agonists of TLR2 (Pam3Cys), TLR4 (LPS), and TLR3 agonist Poly(I:C).

Regulation of vascular endothelial growth factor-C by tumor necrosis factor-α in the conjunctiva and pterygium.

Vascular endothelial growth factor C (VEGF-C) plays an important role in the development of a pterygium through lymphangiogenesis. We examined the association between VEGF-C and tumor necrosis factor-α (TNF-α) in the pathogenesis of pterygia. Cultured conjunctival epithelial cells were treated with TNF-α, and the gene expression levels of VEGFC were evaluated by quantitative polymerase chain reaction (qPCR) and VEGF-C protein expression levels were measured using an enzyme-linked immunosorbent assay (ELISA).

PAFR in adipose tissue macrophages is associated with anti-inflammatory phenotype and metabolic homoeostasis.

Metabolic dysfunction is associated with adipose tissue inflammation and macrophage infiltration. PAFR (platelet-activating factor receptor) is expressed in several cell types and binds to PAF (platelet-activating factor) and oxidized phospholipids. Engagement of PAFR in macrophages drives them towards the anti-inflammatory phenotype.

Involvement of the receptor-associated prorenin system in the pathogenesis of human conjunctival lymphoma.

Purpose: Extranodal marginal zone B-cell lymphoma (EMZL) is the most common subtype of conjunctival lymphoma, though its molecular mechanisms of pathogenesis are largely unknown. We attempted to explore the association of the renin-angiotensin system (RAS) and (pro)renin receptor ([P]RR) in the pathogenesis of conjunctival lymphoma.

Methods: Surgically removed conjunctiva EMZL samples were used for gene expression, and immunohistochemical and immunofluorescence analyses of (P)RR and RAS components.

Role of interplay between IL-4 and IFN-γ in the in regulating M1 macrophage polarization induced by Nattectin.

Recently our group described that Nattectin, a C-type lectin of the venom of Thalassophryne nattereri shows a potent pro-inflammatory capacity. Here, we demonstrated that Nattectin is able to induce M1 macrophage marker iNOS, and up-regulate the expression of MHC class II, CD80, CD86 and CD40 molecules. The increase in MHC class II and CD49a integrin expression with MMP-9 production and endocytic capacity depend on lectin function of Nattectin.

[Renal metastasis from prostatic adenocarcinoma : a case report].

We report a case of renal metastases from prostate cancer to show that the possibility of tumor metastasis, although rare, should be considered in the differential diagnosis of renal mass. A 67-year-old man was found to have a renal mass on computed tomographic scan incidentally. He had had total androgen blockage (bicalutamide + leuprolerin) and chemotherapy (docetaxel hydrate ) for treatment of prostate cancer discovered 33 months ago.

[Two cases of granulocyte-colony stimulating factor-producing infiltrating urothelial carcinoma of the kidney].

We report two cases of granulocyte-colony stimulating factor (G-CSF) producing infiltrating urothelial carcinoma of the kidney. Case 1: A 58-year-old woman was referred to our hospital for fever and right back pain. Blood test showed severe inflammation and computed tomographic (CT) scan demonstrated swelling and irregular enhancement of the right kidney.

[Clinical study of unilateral intravaginal testicular torsion and anatomicalcomparative study of bilateral testes in orchiopexy].

Fourty-eight patients were operated on for unilateral intravaginal testicular torsion at Yokohama Red Cross Hospital during the period between July 1976 and December 2001. Orchiopexy was carried out on 20 out of 48 patients. Only 8 patients could receive orchiopexy within 8 hours after the onset of symptoms.

[Tubeless cutaneous ureterostomy through a single stoma with new extraperitoneal ureteral route up to stoma].

Tubeless cutaneous ureterostomy through a single stoma has been said to be difficult to establish in patients with normal ureters or normal ureters combined with thick fatty abdominal wall, because of the poor blood supply at the end of the ureters. The technical improvements observed were as follows: 1) The peritoneal fold and the upward traction of the gonadal vessels decrease the ureteral tension and keep the blood supply to the ureters in the extraperitoneal approach. 2) The gonadal vessels and its surrounding tissue, covering the subcutaneous fatty tissue, help the ureteral adhesion at the anastomotic site.

[Nonoperative management of major blunt renal lacerations with urinary extravasation: report of two cases].

Two cases of major blunt renal trauma with urinary extravasation managed by conservative treatment are presented herein. The first case: A 13-year-old girl fell from a bicycle. A computed tomographic (CT) scan showed right renal laceration with retroperitoneal hematoma.

[Prognosis in the cases with renal cell carcinoma according to clinical parameters].

Background: The objects of this study is to evaluate the clinical prognostic factors in renal cell carcinoma.

Materials And Methods: During a 30-year period from January 1965 to December 1994, 1301 cases with renal cell carcinoma were treated at the Yokohama City University Hospital and its affiliated hospitals. In these cases, cause specific 679 cases from January 1965 to December 1990 were analyzed in a study undertaken to investigate long-term treatment results and clinical prognostic factors.

[Subcapsular hematoma of the liver after extracorporeal shock wave lithotripsy].

We experienced a case of a hepatic subcapsular hematoma after extracorporeal shock wave lithotripsy (ESWL) for a right renal stone. To our knowledge this presentation is the second case in the Japanese literature. A 63-year-old female with a right renal stone received 2,800 shots of 14.

Isolation of 1-Methylherbipoline Salts of Halisulfate-1 and of Suvanine as Serine Protease Inhibitors from a Marine Sponge, Coscinoderma mathewsi.

Bioassay-guided isolation of serine protease inhibitors from a marine sponge, Coscinoderma mathewsi, has yielded 1-methylherbipoline salts of halisulfate-1 and of suvanine. Structures of these compounds were identified by spectroscopic analyses and literature data. Antithrombin and antitrypsin activity was determined.

Transarterial embolization and ablation of renal arteriovenous malformations: efficacy and damages in 30 patients with long-term followup.

Purpose: We evaluate the long-term efficacy and side effects of transarterial embolization and ablation for renal arteriovenous malformations.

Materials And Methods: A total of 30 patients with cirsoid arteriovenous malformations causing massive hematuria underwent 34 procedures of embolization or ablation. We confirmed the ratios of occluded arteriovenous malformation areas on angiograms and those of infarcted areas on computerized tomography.

[Comparative histological analysis of needle biopsy specimens, prostatectomized specimens and metastatic lymph nodes in prostatic adenocarcinoma--on the basis of the WHO histological classification].

The histological characteristics were comparatively analyzed among biopsy specimens, surgically removed prostates and metastatic lymph nodes obtained from 60 patients with prostatic adenocarcinoma treated by radical prostatectomy. According to the WHO-Mostifi's classification, the proportion of the 6 histologic components, large and/or small simple glands (LSG), micro-glands (MIC), cribriorm (CRB), fused glands (FUS), medullary/solid (MED) and columns-cords/trabecular (C-C), was determined semiquantitatively. LSG, MIC, and CRB are androgen-sensitive components, while FUS, MED and C-C are androgen-refractory components.

[Retroperitoneal malignant Schwannoma in the pelvis: a case report].

We report a case of malignant Schwannoma in the retroperitoneal space and discuss the clinical features briefly. A 77-year-old male visited our hospital in August, 1994 with the chief complaint of bloody stool. Digital rectal examination disclosed a large, elastic and soft mass in the prostatic region, presented identically by ultrasonography and computed tomography.

[A case of asymptomatic extra-adrenal pheochromocytoma].

A 46-year-old female first presented to our clinic with a chief complaint of an abdominal mass. A computerized tomographic (CT) scan revealed a 6 cm retroperitoneal mass below the left kidney. Preoperative hormonal examinations showed elevation of catecholamines and vanillymandelic acid (VMA) in her 24-hour urine, although she had no hypertension.