The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.

Acrodysostosis is a rare skeletal dysplasia, which has not been reported previously in patients of Chinese origin. The PRKAR1A gene and PDE4D gene have been found to be causative genes of acrodysostosis. A Chinese girl with acrodysostosis and concomitant multiple hormone resistance was recruited for our study.

An iterative and targeted sampling design informed by habitat suitability models for detecting focal plant species over extensive areas.

Prioritizing areas for management of non-native invasive plants is critical, as invasive plants can negatively impact plant community structure. Extensive and multi-jurisdictional inventories are essential to prioritize actions aimed at mitigating the impact of invasions and changes in disturbance regimes. However, previous work devoted little effort to devising sampling methods sufficient to assess the scope of multi-jurisdictional invasion over extensive areas.

Anti-diabetic effects of the ethanol extract of a functional formula diet in mice fed with a fructose/fat-rich combination diet.

Background: Rhizoma dioscorea, Lycium barbarum, Prunella vulgaris and hawthorn are well known in both traditional food and folk medicine. Each of these plants reportedly possesses beneficial effects in the treatment of diabetes. In this study an anti-diabetic health-promoting diet was formulated by mixing the herbs in a ratio of 6:4:2:3, and the anti-diabetic effect and underlying mechanism were elucidated in vivo.

Suppressed bone turnover was associated with increased osteoporotic fracture risks in non-obese postmenopausal Chinese women with type 2 diabetes mellitus.

Unlabelled: We found that type 2 diabetes mellitus (T2DM) was associated with increased fracture risks in non-obese postmenopausal Chinese women, and suppressed bone turnover might be the underlying mechanism. This is the first study evaluating and explaining the association of T2DM with osteoporotic fracture in Chinese population with such high homogeneity.

Introduction: The aim of this study was to investigate the association of T2DM with osteoporotic fracture in postmenopausal Chinese women.

Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.

Objective: Hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated primary hyperparathyroidism (FIHP) are two subtypes of familial primary hyperparathyroidism, which are rarely reported in Chinese population. Here, we reported three FIHP families and one HPT-JT family with long-term follow-up and genetic analysis.

Design And Methods: A total of 22 patients, from four FIHP/HPT-JT families of Chinese descent, were recruited and genomic DNA was extracted from their peripheral blood lymphocytes.

RSPO2-LGR5 signaling has tumour-suppressive activity in colorectal cancer.

R-spondins are a family of secreted Wnt agonists. One of the family members, R-spondin 2 (RSPO2), has an important role in embryonic development, bone formation and myogenic differentiation; however, its role in human cancers remains largely unknown. Here we show that RSPO2 expression is downregulated in human colorectal cancers (CRCs) due to promoter hypermethylation, and that the RSPO2 reduction correlates with tumour differentiation, size and metastasis.

cis-Acting elements and trans-acting factors in the transcriptional regulation of raf kinase inhibitory protein expression.

The Raf kinase inhibitory protein (RKIP) is down-regulated in multiple types of human cancers. Decreased RKIP transcription activity may be one of the major mechanisms responsible for the downregulation of RKIP expression in human diseases. To test this hypothesis, we need to gain basic knowledge of the transcriptional regulation of RKIP.

[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].

Objective: To explore the clinical and genetic characteristics of a Chinese boy with infantile hypophosphatasia.

Methods: The clinical data of the boy was carefully collected. The laboratory and radiographic examination were taken in the case.

Personal photograph enhancement using internet photo collections.

Given the growth of Internet photo collections, we now have a visual index of all major cities and tourist sites in the world. However, it is still a difficult task to capture that perfect shot with your own camera when visiting these places, especially when your camera itself has limitations, such as a limited field of view. In this paper, we propose a framework to overcome the imperfections of personal photographs of tourist sites using the rich information provided by large-scale Internet photo collections.

Vitamin D levels and bone metabolism in Chinese adult patients with inflammatory bowel disease.

Objective: We aimed to investigate the serum 25-hydroxyvitamin D3 (25[OH]D3 ) levels and bone metabolism in adult Chinese patients with inflammatory bowel disease (IBD) and to evaluate the correlation between vitamin D levels and the disease activity as well as the potential risk factors.

Methods: Age- and gender-matched cohort of IBD patients (124 with ulcerative colitis [UC] and 107 with Crohn's disease [CD]) and 122 healthy controls were enrolled in this study. Serum levels of 25(OH)D3 and bone mineral density (BMD) were measured, and the correlation between the two parameters and the severity of the disease as well as the clinical risk factors were analyzed.

A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria. HHRH was recently mapped to chromosome 9q34, which contains the gene SLC34A3 which encodes the renal proximal tubular sodium-phosphate cotransporter NaPi-IIc. Here we describe a 29-year-old man with a history of childhood rickets who presented with increased renal phosphate clearance leading to hypophosphatemia, hypercalciuria, low serum parathyroid hormone (PTH), elevated serum 1,25-dihydroxyvitamin D (1,25(OH)2D) and recurrent nephrolithiasis.

Interleukin-8 regulates endothelial permeability by down-regulation of tight junction but not dependent on integrins induced focal adhesions.

Interleukin-8 (IL-8) is a common inflammatory factor, which involves in various non-specific pathological processes of inflammation. It has been found that increased endothelial permeability accompanied with high expression of IL-8 at site of injured endothelium and atherosclerotic plaque at early stages, suggesting that IL-8 participated in regulating endothelial permeability in the developing processes of vascular disease. The purpose of this study is to investigate the regulation effects of IL-8 on the vascular endothelial permeability, and the mRNA and protein expression of tight junction components (i.

Hyperdominance in the Amazonian tree flora.

The vast extent of the Amazon Basin has historically restricted the study of its tree communities to the local and regional scales. Here, we provide empirical data on the commonness, rarity, and richness of lowland tree species across the entire Amazon Basin and Guiana Shield (Amazonia), collected in 1170 tree plots in all major forest types. Extrapolations suggest that Amazonia harbors roughly 16,000 tree species, of which just 227 (1.

Clinical trials in "emerging markets": regulatory considerations and other factors.

Clinical studies are being placed in emerging markets as part of global drug development programs to access large pool of eligible patients and to benefit from a cost effective structure. However, over the last few years, the definition of "emerging markets" is being revisited, especially from a regulatory perspective. For purposes of this article, countries outside US, EU and the traditional "western countries" are discussed.

Distinguishing texture edges from object boundaries in video.

One of the most fundamental problems in image processing and computer vision is the inherent ambiguity that exists between texture edges and object boundaries in real-world images and video. Despite this ambiguity, many applications in computer vision and image processing often use image edge strength with the assumption that these edges approximate object depth boundaries. However, this assumption is often invalidated by real world data, and this discrepancy is a significant limitation in many of today's image processing methods.

Association of GALNT3 gene polymorphisms with bone mineral density in Chinese postmenopausal women: the Peking Vertebral Fracture study.

Objective: GALNT3 gene encodes the glycosyltransferase polypeptide N-acetylgalactosaminyltransferase-3 (ppGalNacT3), which initiates the O-glycosylation of fibroblast growth factor 23 (FGF23) that is important in phosphorous regulation. Inactivating mutations of the GALNT3 gene can cause familial tumoral calcinosis. The aim of present study is to investigate the association of GALNT3 polymorphisms with osteoporosis phenotypes in Chinese postmenopausal women.

Clinical phenotypes of Chinese primary hyperparathyroidism patients are associated with the calcium-sensing receptor gene R990G polymorphism.

Objective: The purpose of this study was to investigate the distribution of the A986S and R990G polymorphisms of the calcium-sensing receptor (CASR) gene in the Chinese population and whether there is an association between genetic variants and the risk of developing primary hyperparathyroidism (PHPT) and its associated clinical phenotypes.

Methods: A total of 164 Chinese Han PHPT patients (M/F: 51/113) and 230 healthy controls (M/F: 50/180) were enrolled. The common clinical parameters of PHPT patients including biochemical markers, bone mineral density (BMD), kidney stone occurrence, and pathology results were analyzed.

Development and validation of the Sports Athlete Foot and Ankle Score: an instrument for sports-related ankle injuries.

Background: Many existing scoring systems assess ankle function, but there is no evidence that any of them has been validated in a group of patients with a higher demand on their ankle function. Problems include ceiling effects, not being able to detect change or they do not contain a sports-subscale. The aim of this study was to create a validated self-administered scoring system for ankle injuries in the higher performing athlete.

Automatic view synthesis by image-domain-warping.

Today, stereoscopic 3D (S3D) cinema is already mainstream, and almost all new display devices for the home support S3D content. S3D distribution infrastructure to the home is already established partly in the form of 3D Blu-ray discs, video on demand services, or television channels. The necessity to wear glasses is, however, often considered as an obstacle, which hinders broader acceptance of this technology in the home.

Physiological and genetic description of dissimilatory perchlorate reduction by the novel marine bacterium Arcobacter sp. strain CAB.

A novel dissimilatory perchlorate-reducing bacterium (DPRB), Arcobacter sp. strain CAB, was isolated from a marina in Berkeley, CA. Phylogenetically, this halophile was most closely related to Arcobacter defluvii strain SW30-2 and Arcobacter ellisii.

Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia.

Background: Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease characterized by severe hypomagnesemia and hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms, which are refractory to anticonvulsant treatment. The pathophysiological hallmarks of HSH are the impaired intestinal absorption of magnesium accompanied by renal magnesium wasting as a result of a reabsorption defect in the distal convoluted tubule. Mutations in TRPM6, the gene encoding the transient receptor potential cation channel subfamily member 6, have been found to be responsible for this disease.

Intraspecific morphological and genetic variation of common species predicts ranges of threatened ones.

Predicting where threatened species occur is useful for making informed conservation decisions. However, because they are usually rare, surveying threatened species is often expensive and time intensive. Here, we show how regions where common species exhibit high genetic and morphological divergence among populations can be used to predict the occurrence of species of conservation concern.

Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene.

Background: Triple A syndrome is a rare autosomal recessive disease characterized by adrenal failure, alacrima, achalasia, and progressive neurologic symptoms.

Aim: Here, we describe the clinical and genetic characteristics in a Chinese patient with novel mutations in the AAAS gene.

Materials And Methods: The clinical and radiologic characteristics of the patient have been fully described.