Mannose efflux from the cells: a potential source of mannose in blood

All mammals have 50-100 μM mannose in their blood. However, the source of the dynamic pool of mannose in blood is unknown. Most of it is thought to be derived from glucose in the cells. We studied mannose uptake and release by various cell types. Interestingly, our results show that mannose taken up by the cells through transporters is handled differently from the mannose released within the cells due to glycan processing of protein-bound oligosaccharides. Although more than 95% of incoming mannose is catabolized, most of the mannose released by intracellular processing is expelled from the cells as free mannose predominantly via a nocodazole-sensitive sugar transporter. Under physiological conditions, incoming mannose is more accessible to hexokinase, whereas mannose released within the cells is protected from HK and therefore has a different fate. Our data also suggest that generation of free mannose due to the processing of glycoconjugates composed of glucose-derived mannose and its efflux from the cells can account for most of the mannose found in blood and its steady state maintenance.     

ALG1-CDG: A new case with early fatal outcome

Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases.     

先天性白内障大鼠血液生化及血液流变学分析

目的：测定先天性白内障大鼠血液常规、生化正常值及血液流变学变化。方法采用XS-800i血常规分析仪和OLYMPUS AV2700生化自动分析仪对185～211 g大鼠共计90只进行血液常规和生化检测及用SA-6600自动血流变测试仪对血液进行流变学的测定。结果血像检测结果是白内障与正常对照同性比较无差异显著性（P ＞0.05）;小眼白内障与正常对照同性比较红细胞宽度（RDW）间差异显著（P ＜0.01或 P ＜0.05）。血生化检测结果是白内障大鼠与正常对照组同性间比较白蛋白（ALB）差异显著（P ＜0.01或P ＜0.05）雌性与对照组比较尿素（Ure）差异显著（P ＜0.01）,小眼白内障雌性与正常对照比较肌酐（Cr）差异非常显著（P ＜0.01）。白内障、小眼白内障大鼠的红细胞是雄性的低于雌性（P ＜0.05,P ＜0.01）而血小板是雄性的高于雌性（P ＜0.01）,肌酐是雄性低于雌性P ＜0.01）,正常组雄雌间无差异;血液流变学各组间无差异显著性。结论白内障大鼠与正常组大鼠间某些血常规及生化指标有一定的差异,该数据为该鼠在这领域的使用提供参考。     

Prosthetic valves in adult patients with congenital heart disease: Rationale and design of the Dutch PROSTAVA study

Background

Data on long-term complications in adult patients with congenital heart disease (ACHD) and a prosthetic valve are scarce. Moreover, the influence of prosthetic valves on quality of life (QoL) and functional outcome in ACHD patients with prosthetic valves has not been studied.

Objectives

The primary objective of the PROSTAVA study is to investigate the relation between prosthetic valve characteristics (type, size and location) and functional outcome as well as QoL in ACHD patients. The secondary objectives are to investigate the prevalence and predictors of prosthesis-related complications including prosthesis-patient mismatch.

Methods

The PROSTAVA study, a multicentre cross-sectional observational study, will include approximately 550 ACHD patients with prosthetic valves. Primary outcome measures are maximum oxygen uptake during cardiopulmonary exercise testing and QoL. Secondary outcomes are the prevalence and incidence of valve-related complications including prosthesis-patient mismatch. Other evaluations are medical history, physical examination, echocardiography, MRI, rhythm monitoring and laboratory evaluation (including NT-proBNP).

Implications

Identification of the relation between prosthetic valve characteristics in ACHD patients on one hand and functional outcome, QoL, the prevalence and predictors of prosthesis-related complications on the other hand may influence the choice of valve prosthesis, the indication for more extensive surgery and the indication for re-operation.     

Genetic variants associated with primary open angle glaucoma in Indian population

Glaucoma is a very common disorder of the eye wherein the disturbance of the structural or functional integrity of the optic nerve causes characteristic atrophic changes in the optic nerve, which may lead to specific visual field defects over time. Primary open angle glaucoma (POAG) is most frequent among the three principle glaucoma subtypes. With well-established role of genes like Myocilin (MYOC), Optineurin (OPTN) and WD repeat Domain 36, (WDR36), at least 29 genetic loci have been found till date to be linked to POAG. Moreover, association studies have found 66 loci with 76 genes associated to POAG till date with conflicting results. This particular study is to summarize the current knowledge regarding the change in glaucoma prevalence worldwide and in India from 1993 onwards and compiles all the studied genes that are involved in POAG pathogenesis in Indian population.     

先天性红细胞生成性卟啉症患者酶活性的研究

先天性红细胞生成性卟啉症（ｃｏｎｇｅｎｉｔａｌｅｒｙ－ｔｈｒｏｐｏｉｅｔｉｃｐｏｒｐｈｙｒｉａ,ＣＥＰ）是Ｇｕｎｔｈｅｒ于１９１１年首先提出并加以描述,有时亦称Ｇｕｎｔｈｅｒ病．该病是因遗传性缺陷所致卟啉代谢中有关酶的异常造成的卟啉代谢紊乱而发生的一...     

Congenital limb malformations in the free-ranging macaques of Kowloon

This paper describes the instances of gross hand and limb malformations in the free-ranging macaques in the forested region of the Kowloon peninsula of Hong Kong. The incidence in this location is compared to that of other macaque groups, most notably the Japanese and rhesus macaques in free-ranging and captive conditions. Etiology is linked to what is known about suspected local teratogenic agents, particularly in pesticides and fuel emissions.     

On the possible effects of homeostatic shifts in human embryonic development

Possible etiological factors of congenital malformations as well as of human trisomies are considered in the framework of the repressor hypothesis. In this approach gene expression is envisaged from the point of view of the functional variations of the total activation energy for normal gene expression in homeostatic equilibrium. We restrict our attention to variations of the total activation energy under the effect of temperature gradients. We discuss the evidence that hyperthermia may be an etiological factor for trisomies in humans.Also at the Instituto Internacional de Estudios Avanzados Apartado 17606, Parque Central, Caracas 1015-A, Venezuela.