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991.
H. Kellner W. G. Zoller K. Jacob H. S. Füeßl 《Journal of molecular medicine (Berlin, Germany)》1988,66(19):953-956
Summary Urinary and fecal total, isomer I, and isomer III coproporphyrin excretion of a Rotor's syndrome patient and his family were determined. The proprositus showed increased urinary total coproporphyrin excretion (248 µg/24 h) and a shift of the coproporphyrin isomer I/III relation (70%/30%). The propositus's father and two siblings also had elevated renal excretion of coproporphyrin I. Total coproporphyrin excretion was enhanced only in the propositus's father and one sibling, while being normal in another sibling. All family members that could be investigated showed considerably decreased fecal porphyrin excretion. In Rotor's syndrome porphyrin excretion is mainly renal. The coproporphyrin isomer I/III relation is shifted towards isomer I. Phenotypically normal relatives with normal bilirubin plasma levels may have alterations in both their renal and enteral coproporphyrin excretion.
Herrn Professor Dr. med. N. Zöllner zum 65. Geburtstag gewidmet 相似文献
992.
G. V. Mardanova V. V. Osipov G. N. Kostryukov 《Bulletin of experimental biology and medicine》1990,109(4):523-527
Department of Mini-Pig Models, Research Laboratory of Experimental Biological Models, Academy of Medical Sciences of the USSR, Krasnogorsk, Moscow Region. (Presented by Academician of the Academy of Medical Sciences of the USSR A. P. Avtsyn.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 109, No. 4, pp. 398–400, April, 1990. 相似文献
993.
Zheng B Cao KY Chan CP Choi JW Leung W Leung M Duan ZH Gao Y Wang M Di B Hollidt JM Bergmann A Lehmann M Renneberg I Tam JS Chan PK Cautherley GW Fuchs D Renneberg R 《Clinical immunology (Orlando, Fla.)》2005,116(1):18-26
Neopterin and C-reactive protein (CRP) concentrations were determined in serum samples from 129 severe acute respiratory syndrome (SARS) patients and 156 healthy blood donors. In the patients with confirmed SARS, an early neopterin elevation was detected already at the day of onset of symptoms and rose to a maximum level of 45.0 nmol/L 3 days after the onset. All SARS patients had elevated neopterin concentrations (>10 nmol/L) within 9 days after the onset. The mean neopterin concentrations were 34.2 nmol/L in acute sera of SARS patients, 5.1 nmol/L in convalescent sera, and 6.7 nmol/L in healthy controls. In contrast, the mean CRP concentrations in both acute and convalescent sera of SARS patients were in the normal range (<10 mg/L). Serum neopterin level in SARS patients was associated with fever period and thus the clinical progression of the disease, while there was no significant correlation between the CRP level and the fever period. Serum neopterin may allow early assessment of the severity of SARS. The decrease of neopterin level was found after steroid treatment, which indicates that blood samples should be collected before steroid treatment for the neopterin measurement. 相似文献
994.
995.
Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients 总被引:8,自引:0,他引:8
Uyeda T Takahashi T Eto S Sato T Xu G Kanezaki R Toki T Yonesaka S Ito E 《Journal of human genetics》2004,49(8):404-407
Marfan syndrome (MFS) is an autosomal dominant disorder of the extracellular matrix. Allelic variations in the gene for fibrillin-1 (FBN1) have been shown to cause MFS. To date, over 550 mutations have been identified in patients with MFS and related connective tissue diseases. However, about a half of MFS cases do not possess mutations in the FBN1 gene. These findings raise the possibility that variants located in other genes cause or modify MFS. To explore this possibility, firstly we analyzed FBN1 allelic variants in 12 Japanese patients with MFS, and secondly we analyzed fibrillin-3 gene (FBN3) in patients without FBN1 mutations using conformation sensitive gel electrophoresis (CSGE) and direct sequencing analysis. We identified three novel FBN1 mutations and ten FBN3 single nucleotide polymorphisms (SNPs). In this report, we could not detect a responsible mutation of the FBN3 gene for MFS. Although the number of the cases in this report is small, at least these results suggest that disease-causing mutations in exon regions of the FBN3 gene are very rare in MFS.Nucleotide sequence data reported are available in the DDBJ/EMBL/GenBank databases under the accession numbers: AB177797, AB177798, AB177799, AB177800, AB177801, AB177802, AB177803 相似文献
996.
The proposed key symptoms of the female androgen insufficiency syndrome (FAIS) include reduced libido, diminished well being and lowered mood. The diagnosis of FAIS is made on the basis of these symptoms in the setting of a low serum free testosterone level. However, there is currently no readily available inexpensive assay which reliably measures free testosterone levels in the female range. The diagnosis of FAIS is further complicated by the lack of data demonstrating a minimum serum free testosterone level which, if below this, correlates with the symptoms of FAIS. Despite the complexities involved with defining FAIS, the symptoms have been reported to respond well to testosterone replacement. There is a need for formulations of testosterone therapy specifically designed for use in women, along with clear guidelines regarding optimal therapeutic doses and long-term safety data. 相似文献
997.
Kandori A Hosono T Chiba Y Shinto M Miyashita S Murakami M Miyashita T Ogata K Tsukada K 《Medical & biological engineering & computing》2003,41(1):33-39
The paper presents an evaluation of the possibility of using fetal magnetocardiogram (FMCG) signals to estimate and classify
the accessory pathway in fetal Wolff-Parkinson-White (WPW) syndrome. The FMCG signals of two fetuses with WPW syndrome (type
A) were detected using a 64-channel superconducting quantum-interference device system. An average across the cycles of these
signals was taken to obtain clear WPW signals. To determine the direction and position of the accessory pathway in a fetal
heart accurately, the accessory pathway and activated pathway at the peak of the QRS complex thus obtained were estimated
for each fetus, using a single-dipole model. The phase angle (about 90o) between the equivalent current dipoles (ECDs) was the same for both fetuses. This angle suggested that the accessory pathway
is in the left side of the heart, i.e. that the pathway exists in the position of the accessory pathway in a fetus with WPW
syndrome from the angle between the ECD of the accessory pathway and the ECD of the peak in the QRS complex was thus demonstrated. 相似文献
998.
Levinsohn-Tavor O Friedler S Schachter M Raziel A Strassburger D Ron-El R 《Human reproduction (Oxford, England)》2003,18(5):937-940
Coasting is a method to decrease the incidence of ovarian hyperstimulation syndrome (OHSS), which involves withdrawing exogenous gonadotrophins until the serum estradiol (E(2)) level decreases. The application of this strategy, as it appears in the literature, has been variable, with heterogeneous criteria for initiating and ending the coasting process and as a result, reports of efficacy are inconsistent. In attempt to establish a recommended protocol for coasting we reviewed and analysed 10 relevant studies, found by a Medline search. Based on the data collected, coasting should be initiated when the serum E(2) concentration exceeds 3000 pg/ml, but not unless the leading follicles reach a diameter of 15-18 mm. Its duration should be limited to <4 days, thus, preventing the decrease in implantation and pregnancy rates that occur after longer periods of coasting. Administration of hCG should be withheld until serum E(2) falls below 3000 pg/ml. Based on the published data, these suggested guidelines result in an acceptably low incidence of severe OHSS (<2%) and provide satisfactory fertilization and pregnancy rates (55-71% and 36.5-63% respectively). A multicentre randomized prospective study would help to confirm the effectiveness of this approach. 相似文献
999.
SARS冠状病毒棘突蛋白的S1蛋白诱导小鼠产生中和抗体的研究 总被引:1,自引:0,他引:1
目的 研究SARS冠状病毒棘突蛋白受体结合部位S1的免疫原性,为SARS的实验诊断和新型疫苗的研究提供依据。方法 用克隆有哺乳动物细胞密码子优化的SARS-CoV S1基因的质粒pcDNA3.1/S1或P-S1Ig转染293T细胞,用细胞的上清液纯化S1蛋白。以pcDNA3.1/S1质粒对BALB/c小鼠进行2次基因免疫,以纯化的S1蛋白进行加强免疫。用ELISA法检测小鼠抗SARS-CoV的特异性IgG抗体,并在Vero E6细胞上做体外中和实验,检测中和抗体。结果 S1蛋白诱导小鼠产生抗SARS-CoV的特异性抗体;1:1499.68稀释的S1蛋白免疫的小鼠血清可保护50%的细胞对1000TCID50的病毒攻击,而阴性对照血清不能保护细胞对病毒的感染。结论 SAPS冠状病毒棘突蛋白受体结合部位S1能有效诱导机体产生具有高效保护作用的中和抗体免疫反应,可望发展成为理想的SARS棘突蛋白亚单位疫苗。 相似文献
1000.
Rachel Rabin Yoel Hirsch Martin M. Johansson Joseph Ekstein David A. Zeevi Beth Keena Elaine H. Zackai John Pappas 《American journal of medical genetics. Part A》2019,179(10):2144-2151
Warsaw breakage syndrome (WABS), caused by bi‐allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre‐ and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia. The DDX11 gene codes for an iron–sulfur DNA helicase in the Superfamily 2 helicases and plays an important role in genomic stability and maintenance. Fourteen individuals with WABS have been previously reported in the medical literature. Affected individuals have been of various ethnic backgrounds with different pathogenic variants. We report two unrelated individuals of Ashkenazi Jewish descent affected with WABS, who are homozygous for the c.1763‐1G>C variant in the DDX11 gene. Their phenotype is consistent with previously reported individuals. RNA studies showed that this variant causes an alternative splice acceptor site leading to a frameshift in the open reading frame. Carrier screening of the c.1763‐1G>C variant in the Jewish population revealed a high carrier frequency of 1 in 68 in the Ashkenazi Jewish population. Due to the high carrier frequency and the low number of affected individuals, we hypothesize a high rate of miscarriage of homozygous fetuses and/or subfertility for carrier couples. If the carrier frequency is reproducible in additional Ashkenazi Jewish populations, we suggest including DDX11 to Ashkenazi Jewish carrier screening panels. 相似文献