共查询到20条相似文献,搜索用时 15 毫秒
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Haeberle J Boddaert N Burlina A Chakrapani A Dixon M Huemer M Karall D Martinelli D Sanjurjo Crespo P Santer R Servais A Valayannopoulos V Lindner M Rubio V Dionisi-Vici C 《Orphanet journal of rare diseases》2012,7(1):32-30
ABSTRACT: Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with hyperammonemia either shortly after birth (~50%) or, later at any age, leading to death or to severe neurological handicap in many survivors. Despite the existence of effective therapy with alternative pathway therapy and liver transplantation, outcomes remain poor. This may be related to underrecognition and delayed diagnosis due to the nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity. These guidelines aim at providing a trans-European consensus to: guide practitioners, set standards of care and help awareness campaigns. To achieve these goals, the guidelines were developed using a Delphi methodology, by having professionals on UCDs across seven European countries to gather all the existing evidence, score it according to the SIGN evidence level system and draw a series of statements supported by an associated level of evidence. The guidelines were revised by external specialist consultants, unrelated authorities in the field of UCDs and practicing pediatricians in training. Although the evidence degree did not exceed level C (evidence from non-analytical studies like case reports and series), it was sufficient to guide practice on both acute and chronic presentations, address diagnosis, management, monitoring, outcomes, and psychosocial and ethical issues. Also, it identified knowledge voids that must be filled by future research. We believe these guidelines will help to: harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients. 相似文献
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Laura Eggertson 《CMAJ》2009,180(4):379-380
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Hyodo M Nakaya H Urabe A Saegusa H Shunrong X Jiyun Y Xuepin J 《Journal of human evolution》2002,43(1):27-41
Two hominid upper central incisors found in the Yuanmou Basin in southwest China in 1965 have affinities with Homo erectus fossils from Zhoukoudian, but exhibit primitive features. The Yuanmou hominid remains are alleged to be coeval with or older than African specimens dated at about 1.8 m.y.a. Recent age refinements of geomagnetic short reversal events and excursions permit assigning the Yuanmou hominid-bearing bed to the early Brunhes chron (about 0.7 m.y.a.). Magnetochronological assessments confirm that the Lantian calotte which has been dated to about 1.2 m.y.a., is the oldest reliable evidence for the emergence of Homo in eastern Asia as well as China, and that hominid fossils from Sangiran and Mojokerto, Java, do not exceed 1.1 Ma in age. These results refute the view that the genus Homo migrated into eastern Asia in the late Pliocene or the earliest Pleistocene. 相似文献
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书评《最新的“人类遗骸录”丛书第7号:中国》(HominidRemains-AnUp-date:ChinaByWuRukangandWuXinzhi.1994)王谦(中国科学院古脊椎动物与古人类研究所,北京100044)在60年代后期至70年代中期,... 相似文献
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Moyà-Solà S Kohler M Alba DM Almécija S 《Folia primatologica; international journal of primatology》2008,79(4):215-250
In this paper, we test the currently accepted taxonomic hypothesis that the hand of the Homo habilis holotype Olduvai hominid 7 (OH7) from Olduvai Gorge can be unambiguously assigned to Homo. Morphometric and morphological comparison with humans and australopithecines (Australopithecus and Paranthropus) indicate that the OH7 hand most likely belongs to P. boisei. The morphological adaptations of Paranthropus are thus further evaluated in the light of the alternative taxonomic hypothesis for OH7. Functional analyses suggest that morphological features related to human-like precision grasping, previously considered diagnostic of toolmaking by some, may be alternatively attributed to specialized manual feeding techniques in robust australopithecines. 相似文献
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Bolnick DA Bonine HM Mata-Míguez J Kemp BM Snow MH LeBlanc SA 《American journal of physical anthropology》2012,147(2):293-300
Museum curators and living communities are sometimes reluctant to permit ancient DNA (aDNA) studies of human skeletal remains because the extraction of aDNA usually requires the destruction of at least some skeletal material. Whether these views stem from a desire to conserve precious materials or an objection to destroying ancestral remains, they limit the potential of aDNA research. To help address concerns about destructive analysis and to minimize damage to valuable specimens, we describe a nondestructive method for extracting DNA from ancient human remains. This method can be used with both teeth and bone, but it preserves the structural integrity of teeth much more effectively than that of bone. Using this method, we demonstrate that it is possible to extract both mitochondrial and nuclear DNA from human remains dating between 300 BC and 1600 AD. Importantly, the method does not expose the remains to hazardous chemicals, allowing them to be safely returned to curators, custodians, and/or owners of the samples. We successfully amplified mitochondrial DNA from 90% of the individuals tested, and we were able to analyze 1-9 nuclear loci in 70% of individuals. We also show that repeated nondestructive extractions from the same tooth can yield amplifiable mitochondrial and nuclear DNA. The high success rate of this method and its ability to yield DNA from samples spanning a wide geographic and temporal range without destroying the structural integrity of the sampled material may make possible the genetic study of skeletal collections that are not available for destructive analysis. 相似文献
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Victoria E. Gibbon Clem B. Penny Goran Štrkalj Paul Ruff 《American journal of physical anthropology》2009,139(4):596-599
Obtaining a bone sample for DNA analysis has traditionally been a destructive practice, which has resulted in reluctance on behalf of curators for skeletal collections to allow invasive testing. A novel minimally invasive bone sampling method for DNA analysis is presented here. This method uses a conventional hand drill wherein the bone sample is extracted from the intercondylar fossa of the femur; it does not interfere with any known anthropometric landmarks and only leaves a small hole on the surface of the bone. The temperature of the drill is documented and it was established due to the minor increase in temperature, that this should not affect the molecular integrity of the sample. This method is easily replicated and is suitable for both human and other animal skeletal material and can be applied to rare specimens with little risk. Am J Phys Anthropol, 2009. © 2009 Wiley‐Liss, Inc. 相似文献
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As globalization continues, the spread of invasive species is accelerating, posing a severe threat to native biodiversity. To manage such species, reduce their negative impact on native biota and utilize management costs efficiently, a profound understanding of their geographical distribution pattern is mandatory. In this study, the species distribution model Maxent was used to predict the potential spatial distribution of U. europaeus. To account for sampling bias, three bias correction methods were applied, including a novel approach to increase the number of presence points by sampling occurrences based on satellite images. Furthermore, a decision structured process was used to evaluate and select optimal Maxent parameterization and account for limitations of single evaluation criteria. The currently suitable area of U. europaeus is primarily distributed in the coastal and central regions of Chilean natural region Zona Sur in south-central Chile. Annual mean temperature (bio1), annual precipitation (bio12), and precipitation seasonality (bio15) were the most important environmental variables that affected the distribution of U. europaeus. The sampling of additional presence points could effectively correct for sampling bias in species occurrence data. The use of a decision structured process for model evaluation proved to be useful in determining optimal model parameterization for decreased model complexity. This study highlights the importance of optimized Maxent calibrations to yield results as accurately as possible. The predicted suitable habitats can inform nature conservation planners and landscape managers to guide and prioritize conservation measures. 相似文献
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S. T. Parker 《Human Evolution》1987,2(3):235-253
The following paper develops a sexual selection model for the evolution of bipedal locomotion, canine reduction, brain enlargement, language and higher intelligence. The model involves an expansion of Darwin’s ideas about human evolution based on recent elaborations of sexual selection theory. Modern notions about intrasexual competition and female and male choice and their ecological correlates are summarized along with a new model for the role of sexual selection in speciation. Rapid evolution of bipedal locomotion as a male adaptation for nuptial feeding of females is proposed as a model for ape-hominid divergence through sexual selection; canine reduction is attributed to selection for associated epigamic displays. The analogy with male specialization through sexual selection speciation in hamadryas baboons is noted. Subsequent changes in female reproductive physiology are attributed to female competition for increased male parental investment during the time of early Homo andHomo erectus. The origin of higher intellectual and language abilities inHomo sapiens is attributed to male competition through technology and rule production to control resources and females; intellectual abilities involved in social manipulation are attributed to female competition for male parental investment and maintenance of polyandry. The course of hominid evolution is characterized as involving a trend from a promiscuous mating system toward increasing intensity of adaptations for male control of females, and by increasing intensity of female adaptation to maintain male parental investment while circumventing male control. 相似文献
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Spassov N Geraads D Hristova L Markov GN Merceron G Tzankov T Stoyanov K Böhme M Dimitrova A 《Journal of human evolution》2012,62(1):138-145
A hominid upper premolar was discovered in the Azmaka quarry, near Chirpan (Bulgaria). The associated fauna, especially the co-occurrence of Choerolophodon and Anancus among the proboscideans, and Cremohipparion matthewi and Hippotherium brachypus among the hipparions, constrains the age of the locality to the second half of the middle Turolian (ca. 7 Ma), making it the latest pre-human hominid of continental Europe and Asia Minor. The available morphological and metric data are more similar to those of Ouranopithecus from the Vallesian of Greece than to those of the early to middle Turolian hominids of Turkey and Georgia, but the time gap speaks against a direct phyletic link, and Turolian migration from the east cannot be rejected. 相似文献
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The biogeography of hominid evolution 总被引:1,自引:0,他引:1
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P E Habermehl 《Cytometry》1989,10(4):492-494
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