Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation.

Prekallikrein deficiency is a rare autosomal recessive disease not considered to be associated with a tendency for bleeding, despite marked prolongation of activated partial thromboplastin time. Currently, six kinds of mutations in the prekallikrein gene are known to be associated with prekallikrein deficiency. In this report, we describe a patient with idiopathic thrombocytopenic purpura who was recognized to have severe prekallikrein deficiency.

Impact of a glycogen phosphorylase inhibitor and metformin on basal and glucagon-stimulated hepatic glucose flux in conscious dogs.

The effects of a glycogen phosphorylase inhibitor (GPI) and metformin (MT) on hepatic glucose fluxes (μmol · kg(-1) · min(-1)) in the presence of basal and 4-fold basal levels of plasma glucagon were investigated in 18-h fasted conscious dogs. Compared with the vehicle treatment, GPI infusion suppressed net hepatic glucose output (NHGO) completely (-3.8 ± 1.

Recurrent mitral regurgitation late after annuloplasty for ischemic mitral regurgitation.

In 106 patients who had mitral annuloplasty for ischemic mitral regurgitation (MR), 71 patients (67%) had satisfactory outcomes with <2+ MR (grade 0-4) throughout the follow-up period (44 ± 31 months), while 35 patients (33%) had significant recurrent MR (≥2+) late after annuloplasty (≥6 months) during the follow-up period (45 ± 30 months). Compared to those with recurrent MR, the success group had a significantly higher proportion of patients whose left ventricular (LV) ejection fraction (EF) stayed stable or increased over the follow-up period postoperatively (47/70 = 67% vs. 14/35 = 40%, P < 0.

Depressed levels of interferon-gamma and HLA-DR+CD3+ T cells in infants with transient hyperferritinemia.

Familial hemophagocytic lymphohistiocytosis (FHL), which typically has its onset during infancy, is uniformly fatal if not treated. It therefore requires prompt therapeutic intervention. Although hyperferritinemia has been emphasized as a useful marker for FHL, some nonfatal cases in infants with spontaneous remission also manifest with hyperferritinemia.

[Four cases of anal squamous cell carcinoma treated by chemoradiotherapy].

We reviewed clinical records of 4 cases with squamous cell carcinoma in anus to evaluate the clinical effectiveness of the chemoradiotherapy. The radiation therapy consisted of 40 Gy was delivered to pelvis and bilateral inguinal lesion, and perianal booster dose of 20 Gy, in fractions of 2.0 Gy per day, was given five days a week.

Foxo3a suppression of urothelial cancer invasiveness through Twist1, Y-box-binding protein 1, and E-cadherin regulation.

Purpose: Invasion and metastasis are key steps in the progression of urothelial cancer (UC) into a critical disease. Foxo3a is a member of the Foxo transcription factor family that modulates the expression of various genes. We aimed to elucidate the role of Foxo3a in UC invasion.

Renal fibrosis in murine obstructive nephropathy is attenuated by depletion of monocyte lineage, not dendritic cells.

The role of renal dendritic cells (DCs) in renal fibrosis is unknown. The present study was conducted to examine the relative role of renal DCs and macrophages in the development of renal fibrosis in murine obstructive nephropathy. CD11c-diphtheria toxin receptor (DTR) transgenic mice and CD11b-DTR transgenic mice were subjected to unilateral ureteral obstruction.

Twist1 and Y-box-binding protein-1 promote malignant potential in bladder cancer cells.

Objective: To investigate the roles of Twist1 and Y-box binding protein-1 (YB-1) and their potential as therapeutic targets in bladder cancer (BC), as both have been suggested to play important roles in tumour growth, invasion and drug resistance.

Materials And Methods: Bladder cancer cell lines (TCCsup, UMUC3, T24 and KK47 cells) were used. Twist1 and YB-1 expression levels were assessed by luciferase reporter assay, quantitative real-time polymerase chain reaction (PCR) and western blot analysis.

Generation of a rat monoclonal antibody specific for heat shock cognate protein 70.

Human heat shock cognate protein 70 (Hsc70), also known as Hsp73 and Hsp70-8, is a molecular chaperone. The human Hsp70 family comprises at least eight different molecular groups with strong homology. Among them, Hsc70 and Hsp72 share 86% homology.

Histopathologic subtype-specific genomic profiles of renal cell carcinomas identified by high-resolution whole-genome single nucleotide polymorphism array analysis.

To elucidate the novel and common genetic changes in histopathologic subtype-specific profiles of renal cell carcinomas (RCCs), a newly developed high-resolution whole-genome array analysis was applied. Human CNV370-Duo DNA Analysis BeadChip (genotype 370K) was used in a panel of 22 primary clear cell RCCs (ccRCCs), seven papillary RCCs (PRCCs) (six type II and one type I) and eight chromophobe RCCs (ChRCCs). In ccRCC, a chromosome 3p loss was identified in 95% of the carcinomas, suggesting that 3p loss is the first stage in ccRCC carcinogenesis.

Procyanidin B3, an inhibitor of histone acetyltransferase, enhances the action of antagonist for prostate cancer cells via inhibition of p300-dependent acetylation of androgen receptor.

Increasing evidence suggests that AR (androgen receptor) acetylation is critical for prostate cancer cell growth. In the present study, we identified Pro-B3 (procyanidin B3) as a specific HAT (histone acetyltransferase) inhibitor. Pro-B3 selectively inhibited the activity of HATs, but not other epigenetic enzymes.

Accuracy of right ventricular volumes and function determined by three-dimensional echocardiography in comparison with magnetic resonance imaging: a meta-analysis study.

Background: Determining right ventricular (RV) function is challenging because of the complex anatomy of the right ventricle. Three-dimensional echocardiography (3DE) has achieved better estimation, but underestimations of volumes and ejection fraction (EF) has often been reported, and no previous study has synthesized these data. The investigators performed a meta-analysis on the bias and examined the related factors.

Enhanced S100 calcium-binding protein P expression sensitizes human bladder cancer cells to cisplatin.

Objective: • To investigate the role of S100 calcium-binding protein P (S100P) in the gain of cis-diamminedichloroplatinum (II) (cisplatin) resistance in bladder cancer, having previously found, with cDNA microarrays using two pairs of parental (T24, KK47) and their cisplatin-resistant bladder cancer cell lines (T24/DDP10, KK47/DDP20), that S100P mRNA expression was significantly reduced in cisplatin-resistant cells.

Materials And Methods: • S100P mRNA and protein expression levels were investigated by northern and western blot analyses, respectively. • Intracellular S100P localization was examined by immunocytochemistry and immunohistochemistry.

Statins reduce the androgen sensitivity and cell proliferation by decreasing the androgen receptor protein in prostate cancer cells.

Background: Statins (3-hydroxy-3-methyl-glutaryl-coenzyme A reductase inhibitors) are cholesterol-lowering drugs that are widely used to prevent and treat atherosclerotic cardiovascular disease. Recent epidemiological studies suggest that statins reduce serum prostate-specific antigen (PSA) levels and decrease the risk of prostate cancer. In the present study, we determined the molecular mechanisms related to the regulation of PSA, androgen receptor (AR) and cell proliferation in prostate cancer cell lines by statins.

Greater sadness reactivity in late life.

Although previous research suggests that overall emotional reactivity does not change with normal aging, it is possible that different emotions follow different developmental courses. We examined emotional reactivity to films selected to elicit sadness, disgust, and a neutral state in young, middle-aged and older adults (total N = 222). Physiology and expressive behavior were measured continuously and reports of subjective emotional experience were obtained following each film.

[HAI chemotherapy for liver metastases of colorectal cancer].

We evaluated the effect of hepatic arterial infusion(HAI)chemotherapy for liver metastases from colorectal cancer. A total of 65 patients received HAI chemotherapy. The chemotherapy regimen consisted of weekly 5-FU (1, 500 mg/body) or 5-FU (400 mg/mm2) and l-LV (200mg/mm2).

Sensitivity of doxorubicin-resistant cells to sorafenib: possible role for inhibition of eukaryotic initiation factor-2alpha phosphorylation.

Patients with advanced cancer including breast cancer, hepatocellular cancer and urothelial cancer frequently receive a chemotherapy regimen containing doxorubicin. However, doxorubicin-resistance is a major obstacle for cancer chemotherapy. Recently, several molecular-targeted agents have become available.

P300/CBP-associated factor regulates Y-box binding protein-1 expression and promotes cancer cell growth, cancer invasion and drug resistance.

Twist1 has been proposed to have oncogenic properties. Although Twist1 was reported to interact with p300/CBP-associated factor (PCAF) and to inhibit the functions of PCAF, it remains unclear how PCAF affects the functions of Twist1, cell growth, invasive ability, and cellular sensitivity to anticancer agents. We found that PCAF, Twist1, and Y-box binding protein-1 (YB-1) expressions were elevated in cisplatin- and doxorubicin-resistant cancer cells.

Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia.

Carbamyl phosphate synthetase (CPS) is an enzyme that converts ammonia to carbamyl phosphate in the urea cycle. CPS deficiency is a genetic disorder that causes hyperammonemia because of enzyme activity deficiency. It is primarily diagnosed in neonates and infants and has a poor prognosis.

Sorafenib with doxorubicin augments cytotoxicity to renal cell cancer through PERK inhibition.

Although cytokine therapy involving interleukin-2 or interferon-alpha has been employed for metastatic renal cell cancer (RCC) treatment, these therapies yielded limited response and benefit. Recently, several molecular-targeted agents have become available, and one newly developed anti-RCC agent, sorafenib (BAY 43-9006), is known to target multiple kinases. In this study, sorafenib was found to inhibit phosphorylation of the eukaryotic initiation factor-2alpha (eIF2alpha) and induce cell cycle arrest at G2/M phase and increase cell death.

Influence of different positive emotions on persuasion processing: a functional evolutionary approach.

Much research has found that positive affect facilitates increased reliance on heuristics in cognition. However, theories proposing distinct evolutionary fitness-enhancing functions for specific positive emotions also predict important differences among the consequences of different positive emotion states. Two experiments investigated how six positive emotions influenced the processing of persuasive messages.

Human heterochromatin protein 1 isoform HP1beta enhances androgen receptor activity and is implicated in prostate cancer growth.

There are currently few successful therapies for castration-resistant prostate cancer (CRPC). CRPC is thought to result from augmented activation of the androgen/androgen receptor (AR) signaling pathway, which could be enhanced by AR cofactors. In this study, heterochromatin protein 1beta (HP1beta), but not HP1alpha or HP1gamma was found to be an AR cofactor.