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51.
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The mouse Pax21Neu
mutation is identical to a human PAX2
mutation in a family with renal-coloboma syndrome and results
in developmental defects of the brain, ear, eye, and kidney
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Jack Favor Rodica Sandulache Angelika Neuhuser-Klaus Walter Pretsch Bimal Chatterjee Elfriede Senft Wolfgang Wurst Vronique Blanquet Patricia Grimes Ralf Sprle Klaus Schughart 《Proceedings of the National Academy of Sciences of the United States of America》1996,93(24):13870-13875
We describe a new mouse frameshift mutation (Pax21Neu) with a 1-bp insertion in the Pax2 gene. This mutation is identical to a previously described mutation in a human family with renal-coloboma syndrome [Sanyanusin, P., McNoe, L. A., Sullivan, M. J., Weaver, R. G. & Eccles, M. R. (1995) Hum. Mol. Genet. 4, 2183–2184]. Heterozygous mutant mice exhibit defects in the kidney, the optic nerve, and retinal layer of the eye, and in homozygous mutant embryos, development of the optic nerve, metanephric kidney, and ventral regions of the inner ear is severely affected. In addition, we observe a deletion of the cerebellum and the posterior mesencephalon in homozygous mutant embryos demonstrating that, in contrast to mutations in Pax5, which is also expressed early in the mid-hindbrain region, loss of Pax2 gene function alone results in the early loss of the mid-hindbrain region. The mid-hindbrain phenotype is similar to Wnt1 and En1 mutant phenotypes, suggesting the conservation of gene regulatory networks between vertebrates and Drosophila. 相似文献
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The experience of cancer pain is poorly understood from the perspective of African Americans, who experience higher levels of pain, more pain-related distress, and poorer function than Caucasians. Decreased perceived control over pain may play a greater role for African American patients, affecting pain-related distress and function. The purpose of this study was to add to the understanding of cancer pain and perceived control over pain in African Americans, from the patients’ perspective. This qualitative inquiry was part of a larger mixed-methods study testing an intervention to improve pain, pain-related distress, and functional status through increasing perceived control over pain. Participants were recruited from the waiting room of an urban comprehensive cancer and interviewed in their homes. Interviews with 18 adult cancer patients who self-identified as African American and reported experiencing moderate to severe pain (>4 on a 0–10 scale) within the past two weeks were included. Qualitative interviews were audiotaped, transcribed, and analyzed using a constant comparative method. Two major themes emerged from this qualitative inquiry: struggles of the chronic pain experience and benefits of perceived control over pain. Each theme contained several categories. The study unveiled the participants account of both struggles of the chronic pain experience and barriers of perceived control that can be assessed for and targeted in nursing intervention. Benefits to having perceived control over pain were also illustrated in the participants’ narratives. 相似文献
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Chiarelli F Giannini C Mohn A 《European journal of endocrinology / European Federation of Endocrine Societies》2004,151(Z3):U109-U117
Type 1 diabetes mellitus (T1DM) and other chronic diseases in children are well known to adversely affect linear growth and pubertal development. In the years immediately following the introduction of insulin therapy, short stature was consistently reported in children with T1DM. However, over the past 50 years significant improvement in the prognosis for growth and final height in children with diabetes has been achieved. Although pre-pubertal and post-pubertal growth are important phases in growth, puberty and its related hormonal changes represent a critical phase for growth gain and final height particularly in patients with T1DM. Growth impairment reported in diabetic patients is dependent on abnormalities in physiological bone growth and corresponds to abnormalities of the growth hormone-insulin-like growth-I (GH-IGF-I) axis. These alterations seem to be related to appropriate insulin levels and thereby to glycaemic control as judged by haemoglobin levels. Modern diabetes care, particularly intensified insulin regimens, might improve metabolic control in patients with T1DM, therefore preventing abnormalities of the GH-IGF-I axis and leading to normal growth and final height similar to that of their unaffected peers. 相似文献
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Cunningham MO Whittington MA Bibbig A Roopun A LeBeau FE Vogt A Monyer H Buhl EH Traub RD 《Proceedings of the National Academy of Sciences of the United States of America》2004,101(18):7152-7157
Basic cellular and network mechanisms underlying gamma frequency oscillations (30-80 Hz) have been well characterized in the hippocampus and associated structures. In these regions, gamma rhythms are seen as an emergent property of networks of principal cells and fast-spiking interneurons. In contrast, in the neocortex a number of elegant studies have shown that specific types of principal neuron exist that are capable of generating powerful gamma frequency outputs on the basis of their intrinsic conductances alone. These fast rhythmic bursting (FRB) neurons (sometimes referred to as "chattering" cells) are activated by sensory stimuli and generate multiple action potentials per gamma period. Here, we demonstrate that FRB neurons may function by providing a large-scale input to an axon plexus consisting of gap-junctionally connected axons from both FRB neurons and their anatomically similar counterparts regular spiking neurons. The resulting network gamma oscillation shares all of the properties of gamma oscillations generated in the hippocampus but with the additional critical dependence on multiple spiking in FRB cells. 相似文献
60.
Angelika Guth Benno Hennen Thomas Kr?mer Hans-Peter Stoll Michael B?hm 《Catheterization and cardiovascular interventions》2002,57(3):342-345
This study aimed to investigate serum lidocaine concentrations after subcutaneous infiltration of the groin for cardiac catheterization. One hundred twenty-six patients for planned heart catheterization received five different dosages (5-25 ml) of lidocaine 2% for local anesthesia of the groin in a randomized manner. All of them received an arterial sheath and 13 received both an arterial sheath and a venous sheath for right heart catheterization. Blood samples were taken before as well as 15, 30, and 120 min after subcutaneous application of the drug. Although in 33 patients with an arterial sheath (no venous sheath) excessive doses of lidocaine 2% (20-25 ml) were used, neither symptoms of intoxication nor toxic plasma levels were observed. However, in patients receiving an additional venous sheath, toxic plasma levels were obtained in a third of the cases. One of them showed symptoms of intoxication. 相似文献