Abstract：
:HRQOL assessment in patients with rare diseases can help to identify health needs, to evaluate the impact of disease and treatments, and to assess the evolution in health status through the natural history of disease. Several studies have shown that although some rare diseases do not necessarily affect life expectancy, the majority lead to physical, emotional and/or psychosocial limitations with a wide range of disabilities. Reliability as well as content, criterion, and construct validity, and also responsiveness should be taken into account in selecting the instrument to be used assessing individuals with rare diseases. The use of proxy-report may be essential in some cases where the patient is cognitively impaired or unable to communicate. Criteria for selecting a HRQOL instrument, as well as the more common strategies proposed help interpret scores on HRQOL instruments are addressed in the chapter. Given the impact of rare diseases on the quality of life of both patients and carers, it is likely that interest in its measurement will continue to increase among professionals, patients, and the general public. Improving the quality of life of people with rare diseases should be one of the most important goals of any health care intervention or multidisciplinary approach.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Rajmil L,Perestelo-Pérez L,Herdman Mdoi
10.1007/978-90-481-9485-8_15subject
Has Abstractpub_date
2010-01-01 00:00:00pages
251-72eissn
0065-2598issn
2214-8019journal_volume
686pub_type
杂志文章,评审abstract：:The medium from cultured optic tectum of the goldfish intact or at various days after optic nerve crush, or the co-culture of this optic tectum with post-crush goldfish retinal explants plating in the absence of fetal calf serum, but in the presence of glucose, modulate its outgrowth. The a dition of taurine did not f...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-33504-9_49
更新日期：2006-01-01 00:00:00
abstract：:Tissue oxygen saturation (StO(2)), a potentially important parameter in clinical practice, can be measured by near infrared spectroscopy (NIRS). Various devices use the multi-distance approach based on the diffusion approximation of the radiative transport equation [1, 2]. When determining the absorption coefficient (...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-4989-8_24
更新日期：2013-01-01 00:00:00
abstract：:Therapeutic hypothermia (TH) has become a standard of care following hypoxic ischemic encephalopathy (HIE). After TH, body temperature is brought back to 37 °C over 14 h. Lactate/N-acetylasperatate (Lac/NAA) peak area ratio on proton magnetic resonance spectroscopy ((1)H MRS) is the best available outcome biomarker fo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-38810-6_33
更新日期：2016-01-01 00:00:00
abstract：:The tremendous progress in engineering and computing power coupled with ultrasound transducer technology and imaging modalities over the past 20 years have encouraged a revival of clinical interest in ultrasound therapy, mainly in High-Intensity Focused Ultrasound (HIFU). So far, the most extensive results from HIFU o...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-22536-4_2
更新日期：2016-01-01 00:00:00
abstract：:The breast tissue undergoes significant physiological change during pregnancy and lactation. These changes can give rise to some unique disorders during pregnancy , puerperium and lactation or exaggerate pre-existing conditions. Clinical examination becomes less reliable due to textural change and density of breast ti...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-41596-9_5
更新日期：2020-01-01 00:00:00
abstract：:These investigations were undertaken to elucidate whether the difference between the time courses of the isometric tension and the velocity of shortening upon releases to a given isotonic load various times during a twitch is due to a change in the kinetics of the individual cross-bridges, i.e. in the rate constants g...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:Comparative analysis of the genomic sequences of multiple hepatitis E virus (HEV) isolates has revealed extensive genomic diversity among them. Recently, a variety of genetically distinct HEV variants have also been isolated and identified from large numbers of animal species, including birds, rabbits, rats, ferrets, ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-024-0942-0_5
更新日期：2016-01-01 00:00:00
abstract：:Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1). ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-55780-9_1
更新日期：2017-01-01 00:00:00
abstract：:Kennedy's disease (KD) or spinobulbar muscular atrophy is a hereditary X-linked, progressive neurodegenerative condition caused by an expansion of the CAG triplet repeat in the first exon of the androgen receptor gene. The phenotype in its full form is only expressed in males and presents as weakness and wasting of th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：2012-01-01 00:00:00
abstract：:Binding of mammalian sperm to the zona pellucida and the induction of the acrosome reaction are prerequisites for successful oocyte fertilization. In the mouse model, the zona pellucida consists of three sulfated glycoproteins, ZP1, ZP2, and ZP3. Zona pellucida proteins are secreted to form a filamentous zona matrix i...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:TRPC channels have been suggested as potential candidates mediating store-operated Ca2+ entry (SOCE) in cardiomyocytes. There is increasing evidence that the TRPC isoforms TRPC1 and TRPC4 might fulfill the function as SOCs, in concert with or in parallel to the key players of SOCE, Orai1, and STIM1. Several other isof...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-57732-6_25
更新日期：2017-01-01 00:00:00
abstract：:Neurobiology in ascidians has made many advances. Ascidians have offered natural advantages to researchers, including fecundity, structural simplicity, invariant morphology, and fast and stereotyped developmental processes. The researchers have also accumulated on this animal a great deal of knowledge, genomic resourc...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-7545-2_16
更新日期：2018-01-01 00:00:00
abstract：:The process of insulin release evoked by D-glucose and other nutrient secretagogues is triggered by an increase in cytosolic Ca2+ activity. However, some other insulinotropic agents may stimulate insulin release at a close-to-basal concentration of cytosolic ionized calcium. The control of cytosolic Ca2+ concentration...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4684-5754-4_20
更新日期：1990-01-01 00:00:00
abstract：:Multiple myeloma (MM) is a hematologic malignancy whose progression may account for uncontrolled osteoclastogenesis promoted by the malignant plasma cells within the marrow microenvironment. Osteoclasts are multinucleated cells derived from the fusion of myeloid progenitors such as monocytes/macrophages, in response t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-94-007-0782-5_5
更新日期：2011-01-01 00:00:00
abstract：:Ankle sprain is amongst the most frequent musculoskeletal injuries, particularly during sports activities. Chronic ankle instability (CAI) resulting from an ankle sprain might have severe long-lasting consequences on the ankle joint. Despite the fact that most patients will respond favourably to appropriate conservati...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-76735-2_4
更新日期：2018-01-01 00:00:00
abstract：:For many years, the nuclear envelope was viewed as a passive barrier that separates the genetic material in the nucleus from the cytoplasm of the cell and permits regulated trafficking of various molecules through the nuclear pores. Research in the past two decades has shown that the nuclear envelope is a complex cell...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4899-8032-8_10
更新日期：2014-01-01 00:00:00
abstract：:Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Heterozygous mutations in the cohe...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：2010-01-01 00:00:00
abstract：:Mammary gland homeostasis is regulated by both endogenous and exogenous signals, creating a balance between proliferation and apoptosis. It is thought that breast cancer develops from the acquisition of multiple genetic changes. The function of tumor suppressor p53 is fequently lost in cancers; however, not all cells ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-0-387-69080-3_35
更新日期：2008-01-01 00:00:00
abstract：:Properly performed, biomarker discovery can lead to effective candidates that can ultimately serve as predictors of disease, medical condition, define therapeutic parameters, and many other applications in medicine. Preferably, biomarkers comprise a panel of indicators, e.g. proteins and/or peptides that can be predic...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-41448-5_21
更新日期：2016-01-01 00:00:00
abstract：:This is the first study to examine the potential effects of emissions from an air gun array on hearing of tropical reef fish using AEP thresholds measured in the field. Over 7 days, 51 Chromis viridis,47 Lutjanus kasmira, 20 Myripristis murdjan, and 10 Sargocentron spiniferum were tested. AEP thresholds were determine...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-7311-5_53
更新日期：2012-01-01 00:00:00
abstract：:We report that rat RT6.2 and recombinant mouse Rt6 locus 1 proteins possess auto-ADP-ribosyltransferase activity and that Rt6, but not RT6, catalyzes the ADP-ribosylation of exogenous histones. Based on NH2OH sensitivity, it appeared that the ADP-ribose was attached to arginine residues on proteins. We also observed t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:Dendritic spines are the postsynaptic receptive regions of most excitatory synapses in the central nervous system. Thus, spines are supposed to act as a fundamental unit for information processing of the brains. Previous studies have demonstrated the roles of drebrin in the formation of dendritic spines and in the rec...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-4-431-56550-5_10
更新日期：2017-01-01 00:00:00
abstract：:The mechanism of viral RNA replication in mouse hepatitis virus (MHV)-infected cells was studied by oligonucleotide mapping of every mRNA. We discovered that an oligonucleotide, No. 10, was localized at the 5'-end of every mRNA, and was not colinear with the sequences of the virion genomic RNA. This result indicates t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9373-7_19
更新日期：1984-01-01 00:00:00
abstract：:These studies show that at least some--though certainly not all--of the adjuvant effects of LPS and its derivatives can be attributed to its ability to eliminate the inhibitory effects of Ts which are activated during the course of a normal immune response. The ability of nontoxic MPL to act in this fashion suggests t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-3434-1_4
更新日期：1992-01-01 00:00:00
abstract：:This review examines the monooxygenase, peroxidase and peroxygenase properties and reaction mechanisms of cytochrome P450 (CYP) enzymes in bacterial, archaeal and mammalian systems. CYP enzymes catalyze monooxygenation reactions by inserting one oxygen atom from O2 into an enormous number and variety of substrates. Th...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-16009-2_1
更新日期：2015-01-01 00:00:00
abstract：:A number of congenital muscle diseases and disorders are caused by mutations in genes that encode the proteins present in or associated with the thin filaments of the muscle sarcomere. These genes include alpha-skeletal actin (ACTA1), beta-tropomyosin (TPM2), alpha-tropomyosin slow (TPM3), nebulin (NEB), troponin I fa...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-85766-4_12
更新日期：2008-01-01 00:00:00
abstract：:The adverse effects of trace metals, heat, steam and other conditions encountered in food processing relate to the acceleration of development of rancidity. Measures to retard oxidation of lipids, vitamins, pigments and proteins include elimination of prooxidants, removal of oxygen and use of blends of inhibitors form...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4899-1925-0_16
更新日期：1998-01-01 00:00:00
abstract：:Exercise training (ExT) is widely used for the prevention and treatment of several chronic cardiovascular diseases. However, only recently it started to be recognized as safe and beneficial in pulmonary arterial hypertension. Despite the consistency of its favorable effects on exercise tolerance and quality of life, t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-4307-9_17
更新日期：2017-01-01 00:00:00
abstract：:Anthropogenic sounds come in different forms, varying not only in amplitude and frequency spectrum but also in temporal structure. Although fish are sensitive to the temporal characteristics of sound, little is known about how their behavior is affected by anthropogenic sounds of different temporal patterns. We invest...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4939-2981-8_93
更新日期：2016-01-01 00:00:00
abstract：:For the select fortunate recipients of organ transplants, transplantation affords the rare opportunity for a new life. Given the scarcity of organs for transplantation, it is imperative that the health of transplant recipients be optimized in order to fully benefit from this gift of life. Unfortunately, hypertension i...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/5584_2016_87
更新日期：2017-01-01 00:00:00
