[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].

Objective: To explore the clinical features and acid alpha-glucosidase (GAA) gene mutations of Chinese patients with glycogen storage disease typeII(GSDII).

Methods: Seven patients with GSDII were diagnosed by muscle pathology examination at Department of Neurology, Peking University First Hospital from 2003 to 2011. One patient with infant-onset presented development retardation, generalized muscle weakness, dyspnea, cardiomegaly and hepatomegaly.

The long noncoding RNA HOTAIR contributes to cisplatin resistance of human lung adenocarcinoma cells via downregualtion of p21(WAF1/CIP1) expression.

HOTAIR, a long intervening non-coding RNA (lincRNA), associates with the Polycomb Repressive Complex 2 (PRC2) and is reported to reprogram chromatin organization and promote tumor progression. However, little is known about the roles of this gene in the development of chemoresistance phenotype of lung adenocarcinoma (LAD). Thus, we investigated the involvement of HOTAIR in the resistance of LAD cells to cisplatin.

The long non-coding RNA HOTAIR indicates a poor prognosis and promotes metastasis in non-small cell lung cancer.

Background: The identification of cancer-associated long non-coding RNAs and the investigation of their molecular and biological functions are important for understanding the molecular biology and progression of cancer. HOTAIR (HOX transcript antisense intergenic RNA) has been implicated in several cancers; however, its role in non-small cell lung cancer (NSCLC) is unknown. The aim of the present study was to examine the expression pattern of HOTAIR in NSCLC and to evaluate its biological role and clinical significance in tumor progression.

A variant (rs932335) in the HSD11B1 gene is associated with colorectal cancer in a Chinese population.

Glucocorticoid hormones have been reported to contribute to the regulation of cellular proliferation and differentiation and to inhibit the growth of cells in several colon tumors and adenocarcinoma cell lines. As a regulator of glucocorticoid levels, type I isoform HSD11B1 is a bidirectional enzyme but acts predominantly as an oxidoreductase to yield active glucocorticoids, cortisol or corticosterone. To date, studies investigating the associations between the polymorphisms of HSD11B1 and the risk for cancer have shown inconclusive results.

The potential role of miR-451 in cancer diagnosis, prognosis, and therapy.

MicroRNAs (miRNA) are small noncoding RNAs that converge to maintain an intrinsic balance of various processes, including cell proliferation, differentiation, and apoptosis. Recent research efforts have been devoted to translating these basic discoveries into applications that could improve the early diagnosis and therapeutic outcome of patients with cancer. Early studies have shown that miRNA-451 (miR-451) is widely dysregulated in human cancers and plays a critical role in tumorigenesis and tumor progression.

[Correlation of muscular impairment rating scale with myopathological changes in myotonic dystrophy type 1].

Objective: To explore the relationship between muscular impairment rating scale (MIRS) and myopathological changes of myotonic dystrophy type 1 (DM1).

Methods: A total of 46 patients at our hospital from May 2003 to June 2011 were diagnosed as DM1. There were 30 males and 16 females.

Association between body mass index, skinfold thickness and blood pressure in 12-year-old children.

Unlabelled: The present study examined the association between body mass index (BMI) and skinfold thickness (SFT) with blood pressure (BP) in 12-year-old children in Shandong, China. A total of 920 (464 boys and 456 girls) 12-year-old students participated in this study. All subjects were divided into four groups (BMI < 25th, 25th ≤ BMI < 50th, 50th ≤ BMI < 75th, and BMI ≥ 75th) according to the percentile of BMI and into four groups (SFT < 25th, 25th ≤ SFT < 50th, 50th ≤ SFT < 75th, and SFT ≥ 75th) according to the percentile of SFT, respectively.

GLP-1(28-36) improves β-cell mass and glucose disposal in streptozotocin-induced diabetic mice and activates cAMP/PKA/β-catenin signaling in β-cells in vitro.

Recent studies have demonstrated that the COOH-terminal fragment of the incretin hormone glucagon-like peptide-1 (GLP-1), a nonapeptide GLP-1(28-36)amide, attenuates diabetes and hepatic steatosis in diet-induced obese mice. However, the effect of this nonapeptide in pancreatic β-cells remains largely unknown. Here, we show that in a streptozotocin-induced mouse diabetes model, GLP-1(28-36)amide improved glucose disposal and increased pancreatic β-cell mass and β-cell proliferation.

Impact of acetylsalicylic acid on tumor angiogenesis and lymphangiogenesis through inhibition of VEGF signaling in a murine sarcoma model.

Aspirin is a salicylate drug that is widely used, and recently it has been shown to influence the development of various types of cancers. Our previous study revealed that aspirin had an inhibitory effect on the growth of S180 sarcoma and 3AO human ovarian cancer cells. The present study utilized a murine S180 sarcoma model to investigate the molecular mechanisms involved in aspirin-induced tumor growth inhibition.

Chemopreventive effect of dietary glutamine on colitis-associated colon tumorigenesis in mice.

Chronic colonic inflammation is a known risk factor for colorectal cancer (CRC). Glutamine (GLN) supplementation has shown its anti-inflammation benefit in experimental colitis. Whether GLN is effective in preventing colon carcinogenesis remains to be investigated.

Heparanase induced by advanced glycation end products (AGEs) promotes macrophage migration involving RAGE and PI3K/AKT pathway.

Background: Advanced glycation end products (AGEs), inflammatory-associated macrophage migration and accumulation are crucial for initiation and progression of diabetic vascular complication. Enzymatic activity of heparanase (HPA) is implicated strongly in dissemination of metastatic tumor cells and cells of the immune system. In addition, HPA enhances the phosphorylation of selected signaling molecules including AKT pathway independent of enzymatic activity.

Silver nanocrystals mediated combination therapy of radiation with magnetic hyperthermia on glioma cells.

Based on the study of apoptosis-induced and anti-proliferation behavior of silver nanoparticles (AgNPs) on cancer cells, the attractively therapeutic effect and potential application of AgNPs in anti-cancer field was gradually revealed. Here we investigated the effect of 10 nm silver nanoparticles (AgNPs) on human glioma U251 cells upon the combination treatment of ionizing radiation (IR) treatment with magnetic hyperthermia (MHT). AgNPs showed both radio and thermo sensitivity on U251 cells from the surviving fraction curve.

Electrochemical determination of Sudan I in food samples at graphene modified glassy carbon electrode based on the enhancement effect of sodium dodecyl sulphonate.

This paper describes a novel electrochemical method for the determination of Sudan I in food samples based on the electrochemical catalytic activity of graphene modified glassy carbon electrode (GMGCE) and the enhancement effect of an anionic surfactant: sodium dodecyl sulphonate (SDS). Using pH 6.0 phosphate buffer solution (PBS) as supporting electrolyte and in the presence of 1.

Abdominal sonography for diagnosis of vaginal grains in Chinese children.

Grains embedded as vaginal foreign bodies sometime occur in Chinese children. We summarized the sonographic characteristics of vaginal grains in 4 Chinese children and retrospectively analyzed the clinical data. Abdominal sonography can be the first choice for diagnosis of vaginal grains because of its noninvasive nature, high specificity, and low cost.

[Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].

Objective: To report the clinical features of mitochondrial disease caused by mitochondrial DNA (mtDNA) A8344G point mutation.

Methods: We analyzed the clinical presentations and muscular pathological changes in 10 patients with genetically confirmed mtDNA A8344G point mutation.

Results: Among them, 6 patients presented as juvenile-onset myoclonic epilepsy with ragged red fibers (MERRF) syndrome, 2 suffered infant-onset Leigh syndrome and the remaining 2 were diagnosed as limb-girdle mitochondrial myopathy.

[Audiologic features of mitochondrial DNA A3243G mutation and its correlation with mutation rate].

Objective: To summarize the clinical audiologic features of patients with mitochondrial DNA (mtDNA) A3243G mutation and explore the lesion location of hearing loss so as to examine its correlation with the related syndrome.

Methods: A total of 44 patients with mtDNA A3243G mutation from 2009-2011 were studied. Audiological evaluations consisted of measurements of pure-tone and speech audiometry, tympanometry, distortion-product otoacoustic emissions and auditory brainstem response.

The alteration of protein profile induced by cigarette smoking via oxidative stress in mice epididymis.

Smoking is associated with a declining quality of semen. The aim of this study was to screen and investigate the differential expression of proteins extracted from the epididymis of mice exposed daily with cigarette smoke. Using MALDI-TOF-MS analysis, we found that the protein profile of the mouse epididymis was altered by cigarette smoking and identified 27 proteins from the most abundant and differentially expressed spots in the 2-DE gels of epididymal samples.

Blimp-1 siRNA inhibits B cell differentiation and prevents the development of lupus in mice.

Cumulative evidence suggest that B-lymphocytes play a role in the development of systemic lupus erythematosus (SLE). Thus, the therapeutic approach targeting specific B cells provides a promising way to treat SLE. Blimp-1 (B lymphocyte induced maturation protein), a transcriptional factor, controls the terminal differentiation of mature B cells to plasma cells.

Leptin attenuates the anti-estrogen effect of tamoxifen in breast cancer.

Background: Leptin is a circulating peptide hormone, encoded by the obesity (ob) gene, acting as a regulator of food intake via hypothalamic-mediated effects. Recent studies have shown that leptin and leptin receptor (ObR) are involved in the carcinogenesis and development of breast cancer. In addition, functional cross talk between leptin and estrogen signaling has been registered.

A novel drug candidate for Alzheimer's disease treatment: gx-50 derived from Zanthoxylum bungeanum.

This study focused on a promising drug candidate, N-[2-(3,4-dimethoxyphenyl)ethyl]-3-phenyl-acrylamide (gx-50), a compound extracted from Sichuan pepper (Zanthoxylum Bungeanum), to determine whether it would be an effective therapeutic for Alzheimer's disease (AD) via biological experiments. In vivo, we determined the pharmacokinetic profile of gx-50 and evaluated the effect of gx-50 on the cognitive abilities of amyloid-β protein precursor transgenic (AβPP-Tg) mice by Morris water maze testing. In addition, we examined the effects of gx-50 on amyloid-β (Aβ) oligomers in the brains of AβPP-Tg mice by immunohistochemistry.

MicroRNA-100 is a potential molecular marker of non-small cell lung cancer and functions as a tumor suppressor by targeting polo-like kinase 1.

Background: Polo-like kinase 1 (PLK1) is highly expressed in many human cancers and regulates critical steps in mitotic progression. Previously, we have reported that PLK1 was overexpressed in non-small cell lung cancer (NSCLC), but the underlying molecular mechanisms are not well understood. By using microRNA (miR) target prediction algorithms, we identified miR-100 that might potentially bind the 3'-untranslated region of PLK1 transcripts.