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81.
Michael Muriello Alexander Y. Kim Krista Sondergaard Schatz Natalie Beck Meral Gunay‐Aygun Julie E. Hoover‐Fong 《American journal of medical genetics. Part A》2019,179(3):410-416
We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature. 相似文献
82.
Castillo EH Arteaga-Martínez M García-Peláez I Villasis-Keever MA Aguirre OM Morán V Vizcaíno Alarcón A 《Clinical anatomy (New York, N.Y.)》2005,18(4):260-268
This study measured the dimensions of the great arteries of normal human fetal hearts at an early fetal stage (between 13-20 weeks post-fertilization) in 103 fetuses obtained by necropsy. Different segments of the aorta and the pulmonary artery were dissected and their external diameters measured under stereoscopic magnification. All segments showed linear growth during this period of fetal development. Ranges in median values of external diameters associated with the pulmonary artery were: 2.1-4.2 mm for the valve ring; 2.2-4.2 mm for the main pulmonary trunk; 1.2-2.5 mm for the right pulmonary artery; 0.9-2.18 mm for the left pulmonary artery; and 4.0-8.0 mm for the length of the main pulmonary trunk. Similarly, in the aorta, median diameters were: 2.1-4.2 mm for the ascending aorta; 1.92-3.8 mm for the aortic arch; 1.45-3.0 mm for the aortic isthmus; and 1.75 -3.35 mm for the descending aorta. The diameter of the ductus arteriosus ranged between 1.2-2.45 mm. The growth rates of the pulmonary artery and the aorta were similar. The diameter of the ascending aorta was found to be greater than that of the descending aorta and the right pulmonary artery was wider than the left pulmonary artery. In addition, the magnitude of growth in the various aortic segments was different and the ratios obtained between the aortic isthmus and the ascending and descending aortae, ranged between 0.66-0.93. This study provides important morphometric reference information concerning the dimensions and growth of the great arteries of the fetal heart and has clinical application in pediatric cardiac surgery and echocardiography. 相似文献
83.
目的:研究人白介素-4(hIL-4)对经TNF-α活化的牛主动脉内皮细胞(BAEC)的保护作用。方法:用不同浓度的hIL-4与BAEC共孵育2h后,再与4μg/L的TNF-α共孵育6h或18h。应用细胞ELISA方法,检测BAEC表面的E选择素和ICAM-1的表达;用MTT比色法测定hIL-4对BAEC活性的影响。结果:在一定浓度内用hIL-4预处理BAEC后,能明显抑制TNF-α诱导活化BAEC上的E选择素与ICAM-1的表达,并呈现一定的剂量依赖性。用MTT比色法测定BAEC活性的实验表明,各实验组BAEC的活性与对照组无明显差异性。结论:hIL-4能明显抑制TNF-α诱导活化的BAEC表达E选择素与ICAM-1;hIL-4对BAEC的正常功能具有一定的保护作用。 相似文献
84.
85.
There are two sets of peripheral arterial chemoreceptors in the cat, the carotid bodies innervated by the carotid sinus nerve and the aortic bodies with afferents in the aortic depressor nerves. Reflex stimulation of ventilation in response to hypoxia is abolished acutely after interrupting the sensory pathway from the carotid body chemoreceptors in the cat even though the reflex pathway from the aortic body chemoreceptors is intact. However, in chronically maintained preparations, there is a restoration of the hypoxic response which is mediated by the aortic chemoreflex pathway. It was proposed that restoration was due to a ‘central reorganization’ of chemoreflex pathways which followed interruption of the sensory pathway from the carotid bodies and that the reorganization enhanced the efficacy of the aortic ventilation chemoreflex. This proposal was tested in the present experiments by measuring reflex ventilatory and cardiovascular responses to electrical stimulation of the sensory nerves containing aortic and carotid chemoreceptor afferents following bilateral interruption of carotid sinus nerves and carotid body resection. Responses measured acutely (1–6 h) after interruption were compared with those measured 60–80 and 110–140 days later. At 60–80 days, a chemoreflex response (increase in tidal volume of ventilation) to stimulation of the interrupted carotid sinus sensory pathway was markedly attenuated while the response to stimulation of the uninterrupted pathway in aortic depressor nerves was enhanced. At 110–140 days, the tidal volume response to carotid sinus nerve stimulation was greatly enhanced while the aortic depressor nerve response declined from the elevated level. There were significant but less pronounced changes in the response of other ventilatory and cardiovascular variables to aortic depressor nerve and carotid sinus nerve stimulation.The results support the idea that there is a ‘central reorganization’ of chemoreflex pathways which is reflected functionally by changes in the efficacy of reflexes evoked from aortic depressor nerve and carotid sinus nerve. The changes are analagous to those occurring in somatic reflexes during regeneration of sensory nerves. It is suggested that the changes in efficacy of carotid sinus nerve reflexes are due to a degenerative loss of synapses of the central projections of interrupted carotid sinus nerve sensory axons (degenerative atrophy) and subsequent regenerative like changes (regenerative proliferation) in the central projections. The changes in the efficacy of aortic depressor nerve reflexes may be attributed to formation of new synapses by converging central projections of this uninterrupted pathway (reactive synaptogenesis) and subsequent regression of the newly formed synapses. 相似文献
86.
87.
A. J. M. Langbroek A. Nijmeijer P. Rispens W. G. Zijlstra 《Pflügers Archiv : European journal of physiology》1990,417(2):157-160
Arterial pH and blood gases were measured at intervals in conscious dogs after their first human contact of the day. Blood was sampled through an indwelling catheter in the aorta without disturbing the animals. It appeared that in the first 90 min arterial PO2, oxygen saturation and haemoglobin concentration significantly declined. PCO2 and pH changed less consistently when the acid/base status of the dogs was normal, but when a non-respiratory acidosis was present there was a significant decrease in pH and a significant increase in PCO2. Arterial pH and blood gases were also measured before and after feeding the animals. It appeared that an appreciable metabolic alkalosis developed within 2 h after a meal. The alkaline tide was accompanied by a trend to higher values for PCO2. It is concluded that, after a period of seclusion, renewed human contact causes behavioural changes in a dog, which may result in appreciable transitory changes in arterial pH and blood gas values. Blood sampling from conscious dogs should therefore take place after a proper period of habituation; preferably, a few samples should be taken at intervals to check that a steady state has been reached. If possible, blood should be collected before feeding; in any case the relationship in time of blood sampling to feeding should be constant throughout. 相似文献
88.
The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm
Dorothy Ramsbottom Anne O'Neill Donna M. Sexton Rafael A. Gafoor David Bouchier-Hayes David T. Croke 《Clinical genetics》1997,51(4):241-245
Abdominal aortic aneurysm (AAA) is a relatively common disease of the elderly presenting as progressive dilatation of the abdominal aorta. The condition shows a pronounced tendency to cluster in families, indicating a genetic component in the disease aetiology. We have screened the cholesteryl ester transfer protein (CETP) gene, which has been proposed as a candidate gene in AAA, by means of SSCP, DNA sequencing and restriction analysis in a cohort of patients with AAA and a matching control group drawn from the Irish population. The analysis has demonstrated sequence variation at four sites in the CETP gene: an A-T transversion in exon 9 (producing a Lys309-Stop codon substitution), a G-A transition in exon 14 (producing a conservative Va1421-Ile substitution), a C-T transition in intron 12 and a G-A transition in intron 15. None of the last three sites corresponded with sites of functional significance in the protein, suggesting that this reflects neutral polymorphism at the CETP locus. Furthermore, the frequencies of these four polymorphisms in the AAA patient and control groups were not significantly different. These data therefore suggest that CETP may be excluded as a candidate gene in abdominal aortic aneurysm. 相似文献
89.
Holly Corbitt Jacob Gutierrez Michael Silberbach Cheryl L. Maslen 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(1):101-109
Our goal is to identify the genetic underpinnings of bicuspid aortic valve and aortopathy in Turner syndrome. We performed whole exome sequencing on 188 Turner syndrome study subjects from the GenTAC registry. A gene‐based burden test, SKAT‐O, was used to evaluate the data using bicuspid aortic valve (BAV) and aortic dimension z‐scores as covariates. This revealed that TIMP3 was associated with BAV and increased aortic dimensions at exome‐wide significance. It had been previously shown that genes on chromosome Xp contribute to aortopathy when hemizygous. Our analysis of Xp genes revealed that hemizygosity for TIMP1, a functionally redundant paralogue of TIMP3, increased the odds of having BAV aortopathy compared to individuals with more than one TIMP1 copy. The combinatorial effect of a single copy of TIMP1 and TIMP3 risk alleles synergistically increased the risk for BAV aortopathy to nearly 13‐fold. TIMP1 and TIMP3 are tissue inhibitors of matrix metalloproteinases (TIMPs) which are involved in development of the aortic valve and protection from thoracic aneurysms. We propose that the combination of TIMP1 haploinsufficiency and deleterious variants in TIMP3 significantly increases the risk of BAV aortopathy in Turner syndrome, and suggest that TIMP1 hemizygosity may play a role in euploid male aortic disease. 相似文献
90.
邹盛铨 《生物医学工程学杂志》1991,8(2):117-122
作者研究了牦牛主动脉瓣叶的单向拉伸和应力松弛行为。发现在生理应变范围内,试件的应力应变曲线斜率在纤维方向比其垂直方向约大20倍,瓣叶对应变速率不很敏感。在分析瓣叶的松弛行为时应用了冯元桢[9](1972)提出的松弛模型,根据实验结果,得到了牦牛主动脉瓣叶的归一化松弛函数。 相似文献