Abstract：
:Official mortality statistics provide population-based data and serve to improve epidemiological knowledge of rare diseases (RDs), by helping with the description of the natural history of the disease. They are an important complement of registries and estimates of disease burden and costs. At the same time, they heighten both the visibility of these diseases and the interest in their study and the search for treatments that may increase survival. This chapter contains a European analysis of hereditary ataxia mortality, which considers the time trend in different countries and the geographical variability in risk of death. Despite the limitations of applying this data source to RDs, mortality statistics share criteria which facilitate international comparisons and are of great utility for obtaining sufficiently uniform and robust time series for analysis of low-prevalence diseases.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Arias Merino G,Sánchez Díaz G,Villaverde-Hueso A,Posada de la Paz M,Alonso Ferreira Vdoi
10.1007/978-3-319-67144-4_28subject
Has Abstractpub_date
2017-01-01 00:00:00pages
521-533eissn
0065-2598issn
2214-8019journal_volume
1031pub_type
杂志文章,评审abstract：:Capillary-to-fiber perimeter ratio is a morphometric estimate of muscle capillarity in transverse sections which accounts for the three-dimensional arrangement of the capillary network. We compared different methods for estimating capillary-to-fiber perimeter ratio in muscles with large differences in fiber size and c...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-2468-7_87
更新日期：1994-01-01 00:00:00
abstract：:Young chicks were experimentally infected with 6 strains of AEEC isolated from calves, pigs, chicks, and humans. AEEC colonized the cecum of chicks and induced the AE lesions on the mucosal surface. In the early stages of the AE lesions, AEEC attached to the enterocyte were enfolded with the microvilli. In the advance...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-1828-4_16
更新日期：1997-01-01 00:00:00
abstract：:Biobanking of human biological specimens has evolved from the simple private collection of often poorly annotated residual clinical specimens, to well annotated and organized collections setup by commercial and not-for-profit organizations. The activities of biobanks is now the focus of international and government ag...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-20579-3_2
更新日期：2015-01-01 00:00:00
abstract：:The in-depth characterization of sex differences relevant to human physiology requires the judicious use of a variety of animal models and human clinical data. Nonhuman primates (NHPs) represent an important experimental system that bridges rodent studies and clinical investigations. NHP studies have been especially u...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-70178-3_24
更新日期：2017-01-01 00:00:00
abstract：:Three different commercially available melatonin preparations were analyzed by on-line HPLC-electrospray ionization-tandem mass spectrometry. All three samples contained the same impurities at the approximately 0.1-0.5% level of parent melatonin. Based on accurate mass-HPLC-MS and tandem mass spectrometric analyses, t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-4709-9_99
更新日期：1999-01-01 00:00:00
abstract：:Oligodendrocytes (OLs) are the myelinating cells of the central nervous system (CNS) during development and throughout adulthood. They result from a complex and well controlled process of activation, proliferation, migration and differentiation of oligodendrocyte progenitor cells (OPCs) from the germinative niches of ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-47861-6_7
更新日期：2017-01-01 00:00:00
abstract：:A long term culture of aortic medial cells, derived from newborn pig aorta, has been established. The ability of these cells to synthesize soluble elastin has been demonstrated by isolation and characterization of the radioactively labeled protein, using soluble elastin of copper-deficient pig aorta as the carrier. Th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-9093-0_35
更新日期：1977-01-01 00:00:00
abstract：:The close anatomic juxtaposition of epithelial cells with lymphocytes lining the intestinal tract facilitates communication between the two cell types. This intercellular dialogue is important for mucosal development and has a conditioning effect on mucosal structure, function, and response to tissue injury. Lymphoepi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-4143-1_1
更新日期：1999-01-01 00:00:00
abstract：:Late-stage age-related macular degeneration (AMD) is a common sight-threatening disease of the central retina affecting approximately 1 in 30 Caucasians. Besides age and smoking, common genetic variants from at least 19 gene loci have reproducibly been associated with AMD likely explaining a large proportion of diseas...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-3209-8_37
更新日期：2014-01-01 00:00:00
abstract：:In Poland, influenza surveillance is conducted by 16 Provincial Sanitary Epidemiological Stations, headed by the Department of Influenza Research, National Influenza Center at the National Institute of Health - National Institute of Hygiene (NIPH-NIH). During the epidemic season 2016/2017, more than 4000 samples were ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2018_286
更新日期：2019-01-01 00:00:00
abstract：:Stem cell-based therapy has shown exciting efficacy in pre-clinical studies on different neurodegenerative diseases (NDs). However, no clinically applicable stem-cell-derived neurons are available to the patients with NDs. There exist some obstacles associated with stem cell therapy, which need to be overcome in futur...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-981-15-4370-8_10
更新日期：2020-01-01 00:00:00
abstract：:Mesenchymal stem cells (MSCs) are multipotent stem cells that reside in various organs. They have the capacity to differentiate into various cell types, including cardiomyocytes, vascular endothelial cells, and vascular smooth muscle cells. Among the various MSCs, bone marrow-derived MSCs (BMMSCs) have been widely use...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-4397-0_12
更新日期：2017-01-01 00:00:00
abstract：:Significantly lower concentrations of norepinephrine were observed in whole brain and hypothalamus of pups exposed to ethanol pre- and post-natally as compared to controls. Dopamine levels were found to be unaltered in whole brain compared to controls although hypothalamus and corpus striatum demonstrated a decreased ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-1419-7_75
更新日期：1980-01-01 00:00:00
abstract：:Proteomics is a mass spectrometry-based discipline that aims to analyze proteomes and their functions. Many proteomic studies require well-developed protein databases for reference. However, most proteomes are not well-annotated, aside from model organisms. Techniques like six-frame translation, ab initio gene predict...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-15950-4_22
更新日期：2019-01-01 00:00:00
abstract：:Over the last few decades, Drosophila cancer models have made great contributions to our understanding toward fundamental cancer processes. Particularly, the development of genetic mosaic technique in Drosophila has enabled us to recapitulate basic aspects of human cancers, including clonal evolution, tumor microenvir...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-0529-0_10
更新日期：2018-01-01 00:00:00
abstract：:Muscle tissue oxygenation is a critical issue in muscle complications such as pain, exhaustion, stiffness, or fatigue during and after exercise. The aim of this study was to investigate whether the changes of muscle tissue oxygenation could be observed at both erector spinae muscle at S1 level and gastrocnemius during...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-38810-6_43
更新日期：2016-01-01 00:00:00
abstract：:Fibromyalgia (FM) is a prevalent syndrome with chronic pain and a hypothesised underlying disturbance of the tryptophan (TRP) metabolism. We performed a tryptophan depletion (TD) test in 17 FM patients and 17 controls. TRP, 5-hydroxyindoleacetic acid (5-HIAA), kynurenine (KYN), and Interleukin-6 (IL-6) were measured. ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-0135-0_30
更新日期：2003-01-01 00:00:00
abstract：:The rennin-angiotensin-aldosterone system (RAAS) has been well documented in regulating blood pressure, fluid volume, and sodium balance. Overactivity of RAAS promotes both systemic and regional glomerular capillary hypertension, which could induce hemodynamic injury to the glomerulus, leading to kidney damage and ren...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-13-8871-2_33
更新日期：2019-01-01 00:00:00
abstract：:Polyamines modulate many biological functions. Here we report a novel inhibitory modulation by spermine of catecholamine release by the rat carotid body and have identified the molecular mechanism underpinning it. We used molecular (RT-PCR and confocal microscopy) and functional (i.e., neurotransmitter release, patch ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-90-481-2259-2_11
更新日期：2009-01-01 00:00:00
abstract：:THC, the major psychoactive component of marijuana, has been shown both in humans and experimental animals to have immunomodulatory properties. For example, marijuana smokers may show impaired immunological functions, including deficiency of blood leukocyte blastogenesis to mitogens. Detailed studies with mice have sh...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-1951-5_15
更新日期：1995-01-01 00:00:00
abstract：:Under certain conditions, detection of a masked tone is improved by a preceding sound ("precursor"). This phenomenon is referred to as the "temporal effect" or "overshoot". A prevalent model of overshoot, referred to as the "gain reduction model", posits that overshoot is caused by efferent reduction in cochlear gain ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-1590-9_8
更新日期：2013-01-01 00:00:00
abstract：:Autosomal dominant retinitis pigmentosa (adRP) is mainly caused by mutations responsible for rhodopsin (RHO) misfolding. Although it was previously proved that unfolded RHO is retained into the endoplasmatic reticulum (ER) eliciting ER-stress, consequent mechanisms underlying photoreceptor degeneration need to be furt...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-27378-1_51
更新日期：2019-01-01 00:00:00
abstract：:Perforin, a pore-forming protein toxin synthesized and stored in the cytoplasmic vesicles of cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells, is secreted when these effector lymphocytes encounter virus-infected or neoplastic cells. Perforin is encoded by a single-copy gene and is critical for immune homeo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-72005-0_24
更新日期：2007-01-01 00:00:00
abstract：:Recently, a role for SUMO modification outside of the nucleus has emerged. Although the number of extranuclear proteins known to be sumoylated is comparatively small, ion channels represent one important new class of these proteins. Ion channels are responsible for the control of membrane excitability and therefore ar...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-50044-7_8
更新日期：2017-01-01 00:00:00
abstract：:Generation of human-induced pluripotent stem cells (iPSCs) from somatic cells has opened the possibility to design novel therapeutic approaches. In 2014, the first-in-human clinical trial of iPSC-based therapy was conducted. However, the transplantation for the second patient was discontinued at least in part due to g...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-31206-0_2
更新日期：2019-01-01 00:00:00
abstract：:A great many methods are available for the concentration of biosurfactants from microbiological media. The strongest known biosurfactant, surfactin, serves as a model in many studies, so is used here to illustrate the diversity in approaches to product enrichment. Common physiochemical properties mean that many of the...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4419-5979-9_21
更新日期：2010-01-01 00:00:00
abstract：:The application of next generation sequencing technologies has opened the door to a new molecular epidemiology of tuberculosis, in which we can now look at transmission at a resolution not possible before. At the same time, new technical and analytical challenges have appeared, and we are still exploring the wider pot...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-64371-7_4
更新日期：2017-01-01 00:00:00
abstract：:Following analysis of sequenced genomes and transcriptome of many eukaryotes, it is evident that virtually all protein-coding genes have already been discovered. These advances have highlighted an intriguing paradox whereby the relative amount of protein-coding sequences remain constant but nonprotein-coding sequences...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-5203-3_6
更新日期：2017-01-01 00:00:00
abstract：:Spirometry is a standard lung function test for diagnosis and staging of chronic obstructive pulmonary disease (COPD). Impulse oscillometry (IOS) can be complementary to spirometry, especially in patients at advanced age and with physical or mental disorders who cannot be diagnosed through spirometry. The aim of this ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/5584_2014_49
更新日期：2015-01-01 00:00:00
abstract：:In order to define the ischemic myocardial injury in terms of the possible alteration of cardiac membrane properties, Rb+ uptake and 3H-ouabain binding to cardiac tissue were compared in normal and ischemic rabbit hearts. In isolated Langendorff or working rabbit hearts, a global ischemia was produced by reducing the ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-4895-5_45
更新日期：1984-01-01 00:00:00
