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排序方式: 共有244条查询结果,搜索用时 46 毫秒
51.
Peter C. DykeII Laura Konczal Dennis Bartholomew Kim L. McBride Timothy M. Hoffman 《Pediatric cardiology》2009,30(4):523-526
Deficiency of long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase (LCHADD) is a rare inborn error of metabolism. It is
associated with hypertrophic cardiomyopathy and less frequently with dilated cardiomyopathy. The incidence and pathophysiology
of cardiac involvement in LCHADD is poorly understood. This report describes the acute decompensation of a 3-year-old girl
who had LCHADD with rapidly developing dilated cardiomyopathy. A review of the literature and possible causes of cardiomyopathy
in LCHADD are explored. 相似文献
52.
目的 观察玉女煎加味治疗遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HTT)的临床疗效。方法 收集北京同仁医院变态反应中心1年内就诊HTT患者7例,在鼻科填塞基础上,采用玉女煎随证加减治疗,观察治疗5周后对鼻部症状、鼻出血、生活质量的影响。结果 在治疗后患者的症状明显改善,鼻部视觉模拟评分(4.4±1.3;20.8±1.6)分、鼻出血评分(6.5±2.2;18.7±2.0)分、日常生活质量(9.3±1.6;29.7±5.0)分(P<0.05),总有效率达85.7%。此外,HTT鼻部症状与鼻出血具有一定的相关性(R 2=0.8444),而中药对两者改善程度却无相关性(R 2=0.3905),对鼻出血的改善程度优于鼻部
症状。结论 中药玉女煎加味明显改善HTT的鼻出血的症状和部分改善特征性毛细血管扩张症。 相似文献
53.
目的:应用串联质谱(tandem mass spectrometry, MS/MS)技术进行遗传代谢病(IEM)高危儿筛查,初步了解我国 IEM 的发病种类和阳性率,为其有效防治提供科学依据。方法:利用MS/MS技术对在河北省石家庄市8所省、市级医院就医的552例可疑 IEM 患儿的血液样本进行 IEM 筛查。结果:发现阳性患儿64例,阳性率为11.6%。其中甲基丙二酸血症或丙酸血症33例,苯丙酮尿症2例,肉碱棕榈酰转移酶缺乏Ⅰ型3例,长链酰基辅酶 A 脱氢酶缺乏症1例,中链酰基辅酶A脱氢酶缺乏症2例,枫糖尿症6例,短链酰基辅酶A脱氢酶缺乏症2例,戊二酸血症Ⅰ型2例,异戊酸血症2例,同型胱氨酸尿症2例,肉碱缺乏症4例,酪氨酸血症1例,精氨酸琥珀酸尿症1例,瓜氨酸血症2例,精氨酸血症1例。结论:MS/MS技术是筛查诊断IEM的有效工具。 相似文献
54.
《Brain & development》2020,42(2):226-230
d-Glyceric aciduria (DGA) due to d-glycerate kinase deficiency (DGKD) is a rare autosomal-recessive inborn error of metabolism that is usually linked to the metabolism of fructose and serine. We describe a Moroccan patient with DGKD whose metabolic defect has been characterized by metabolite studies, sequencing of genomic DNA and by studies on the RNA level. Since birth the index patient presented with severe muscular hypotonia, joint hypermobility and tremor. Enantioselective analysis showed elevated d-glyceric acid in the urine of the patient, but not in that of his parents. DNA analysis revealed homozygosity in the GLYCTK gene for c.517G>T [p.(Val173Leu)], the first mutation reported for exon 3 of this gene, as well as for the c.530-4A>G polymorphism. RNA studies suggest that none of these sequence variants affects splicing. The mother was heterozygous for both sequence variants, the father heterozygous for the first one and homozygous for the polymorphism, which further supports that c.517G>T is the functionally relevant nucleotide change. The conservation of GLYCTK throughout evolution suggests an important biological role of this enzyme, although it is not known yet how mutations are linked to clinical features. Future studies should investigate the molecular defect in a more general way and search for additional roles of GLYCTK beyond its established role in catabolism of serine and fructose. 相似文献
55.
《Vaccine》2015,33(48):6520-6524
To evaluate vaccination coverage of children and adolescents with inborn errors of metabolism (IEMs) and the attitudes of their parents towards vaccination, the vaccination status of 128 patients with IEM and 128 age- and gender-matched healthy controls was established by consulting the official vaccination chart. In children with IEMs, compared with healthy controls, low vaccination rates and/or delays in administration were observed for pneumococcal conjugate, meningococcus C, measles, mumps, rubella, diphtheria-tetanus-pertussis-inactivated polio, Bacillus Calmette–Guerin, and influenza vaccines. Among the parents of IEM patients, vaccine schedule compliance was primarily driven by the doctors at the hospital's reference centres; among the parents of the healthy controls, compliance was driven by the primary care paediatricians. These results show that IEM patients demonstrate sub-optimal vaccination coverage. Further studies of the different vaccines in each IEM disorder and educational programmes aimed at physicians and parents to increase immunization coverage in these patients are urgently needed. 相似文献
56.
目的探讨小儿脑性瘫痪与先天畸形发生之间的关系。方法按照1:4比例随机抽取2000年1月~2004年12月200例脑性瘫痪住院患者和800例非脑性瘫痪住院患者进行先天畸形对照研究,分析先天畸形发生率。结果脑性瘫痪儿童先天畸形22例,发生率为110.00‰,非脑性瘫痪儿童先天畸形15例,发生率为18.75‰。结论脑性瘫痪儿童先天畸形发生率明显高于非脑性瘫痪儿童,先天畸形儿童应注意早期排除存在脑性瘫痪的可能。 相似文献
57.
Successful living-related liver transplantation for familial hypercholesterolemia in the Middle East
Mohamad Khalifeh Walid Faraj Nigel Heaton Mohammad Rela Ala I. Sharara 《Transplant international》2004,17(11):735-739
Abstract Familial hypercholesterolemia (FH) is an autosomal dominant inherited metabolic disorder resulting in advanced vascular atherosclerosis and premature death, primarily from coronary artery disease. The primary defect is a mutation in the gene encoding for the plasma LDL receptor located on the short arm of chromosome 19. Liver transplantation is currently the most effective method of treating this disorder. Living-related liver transplantation (LRLT) has become an excellent modality for treating children, including those with inherited metabolic diseases. In this paper, we describe the first report of a LRLT for familial hypercholesterolemia and review FH and the role of liver transplantation. 相似文献
58.
Félix T. Oteruelo 《Acta neuropathologica》1976,36(4):295-305
Summary The ultrastructure of various inclusions within oligodendroglial cells in the brains from two phenylketonuric patients was studied. Characteristic lamellar, oval, slightly irregular inclusions measured between 0.5 and 2 micra in diameter and were bounded by a single membrane. The longitudinal and transverse lamellae of these inclusions had a distinct pattern. In analogy to lamellated but different inclusions of other diseases, these structures were termed PKU bodies. Various possibilities that would explain the morphogenesis of the PKU bodies and other inclusions in the oligodendroglial cells, and the significance of these findings, are discussed. 相似文献
59.
R. Santer A. Claviez H. D. Oldigs J. Schaub R. B. H. Schutgens R. J. A. Wanders 《European journal of pediatrics》1993,152(4):339-342
We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal. Biochemical analysis revealed accumulation of very long (>C22) chain fatty acids in plasma and fibroblasts. Furthermore, elevated levels of intermediates of bile acid synthesis and phytanic acid were detectable. These findings are consistent with a defect in the peroxisomal -oxidation system. A generalised defect of peroxisomal function was excluded by normal plasmalogen levels in erythrocytes and normal plasmalogen de novo synthesis in fibroblasts. Immunoblotting of the peroxisomal -oxidation enzymes gave normal results suggesting retained immunoreactivity but catalytic inactivity of one of the enzymes involved, probably either the trifunctional protein or the peroxisomal ketothiolase. This case markedly differs clinically from the few published reports on isolated deficiencies of peroxisomal -oxidation. Among the patients with comparable biochemical findings, this is the first report of survival into adolescence. 相似文献
60.