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1.
Nonsyndromal autosomal recessive profound childhood deafness will affect about one in 4000 children in western Europe. A nonsyndromal autosomal recessive type of profound childhood deafness was thought to be the cause of deafness in at least eight and probably 12 children from a large family with various consanguineous matings and other family interrelations. Audiograms of all affected deaf children showed a profound childhood deafness with only a very slight variation. Audiometric examinations, such as pure-tone audiometry, high-frequency audiometry, stapedial reflexes, and Bekesy audiometry, of ten obligate or presumed carriers did not show any significant findings that would allow identification of carriers of this autosomal recessive gene. Families like this one seem to be very rare. Large clinically well-studied families like this one are indispensable for gene linkage studies of nonsyndromal autosomal recessive types of profound childhood deafness. Such studies should make it possible to trace the origin of these types of childhood deafness at an early age. In consequence, carrier detection should also become available. 相似文献
2.
F Spaans A Wagenmakers W Saris A Reekers P Theunissen H Cremers 《Neuromuscular disorders : NMD》1991,1(5):371-374
The effects of procainamide administration were assessed in a 5-yr-old boy with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Without procainamide the resting metabolic rate was found to be significantly higher than in an age-matched control group. With a serum level of 3.8 mg l-1 procainamide a reduction of the resting metabolic rate of 22% was observed, and times needed to climb stairs and to re-open eyes after forceful contraction (blepharospasm) were significantly reduced. 相似文献
3.
目的:观察非程控降温、-80℃冻存的方法对自体外周血十细胞(APBSC)的保存效果。方法:以6%羟乙基淀粉(HES)、5%二甲基亚砜(DMSO)及4%人血白蛋白(ALB)的混合物为冷冻防护剂,将APBSC直接置于-80℃下保存,冻存前反复苏后测定APBSC的CFU-GM、BFU-E;观察移植后造血功能重建情况。结果:13例患者白细胞在十3~+7天下降至(0.0~0.1)×10/L,白细胞(0.0~0.2)×109/L持续时间3~6天,于+9~+11天恢复至1.0X109/L以上.中性粒细胞绝对值(ANC)于+9~+11天达到0.5X109/L。血小板在+3~+7天下降至(2.0~21)×109/L,于+8~+15天恢复至20×109/L以上。CFU-GM、BFU-E回大率分别为76.5%、78.4%。结论:非程控降温、-80℃冻存是一简便、经济、有效的自体外周血于细胞保存方法。 相似文献
4.
5.
MU Orji TI Mbata OU Kalu 《Malawi medical journal : the journal of Medical Association of Malawi》2005,17(4):128-130
A survey of bacteria contamination of hospital staff apparel in use in Anambra State, Nigeria, was carried out to determine the extent of contamination by clinically important bacteria. Of a total of 125 swab samples of hospital staff apparel, 72 (58%) showed bacterial contamination including 32 (70%) of 46 samples from hand gloves, 28 of 45 (62%) samples from protective gowns, and 12 of 34 (35%) samples from face-shields. The potentially pathogenic bacteria isolated were Salmonella spp, Proteus vulgaris, Shigella dysenteriae, Pseudomonas aeruginosa and Staphylococcus aureus. The isolation of clinically important bacteria from the apparel suggests the need for improved infection control measures. 相似文献
6.
Kok Yvette J.M.de; Merkx Gerard F.M.; van der Maarel Silvere M.; Huber Irene; Malcolm Susan; Ropers Hans-Hilger; Cremers Frans P.M. 《Human molecular genetics》1995,4(11):2145-2150
X-linked deafness with stapes fixation (DFN3) is caused by mutationsin the POU3F4 gene at Xq21.1. By employing pulsed field gelelectrophoresis (PFGE) we identified a chromosomal aberrationin the DNA of a DFN3 patient who did not show alterations inthe open reading frame (ORF) of POU3F4. Southern blot analysisindicated that a DNA segment of 150 kb, located 170 kb proximalto the POU3F4 gene, was duplicated. Fluorescence in situ hybridization(FISH) analysis, PFGE, and detailed Southern analysis revealedthat this duplication is part of a more complex rearrangementincluding a paracentric inversion involving the Xq21.1 region,and presumably the Xq21.3 region. Since at least two DFN3-associatedminideletions are situated proximal to the duplicated segment,the inversion most likely disconnects the POU3F4 gene from aregulatory element which is located at a distance of at least400 kb upstream of the POU3F4 gene. 相似文献
7.
Pennings RJ Te Brinke H Weston MD Claassen A Orten DJ Weekamp H Van Aarem A Huygen PL Deutman AF Hoefsloot LH Cremers FP Cremers CW Kimberling WJ Kremer H 《Human mutation》2004,24(2):185
Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis of USH2A was performed in 70 Dutch USH2 families. Ten mutations in USH2A were detected, of which three are novel, c.949C>A, c.2242C>T (p.Gln748X) and c.4405C>T (p.Gln1468X). Including 9 previously published Dutch USH2a families, estimates of the prevalence of USH2a in the Dutch USH2 population were made. Mutations were identified in 62% of the families. In 28% both mutated alleles were identified, whereas in 34% the mutation in only one allele was found. It is estimated that about 28% of the Dutch USH2 families have a different causative gene. Analysis of deduced haplotypes suggests that c.1256G>T (p.Cys419Phe) is a Dutch ancestral mutation, occurring in 16% of the alleles. 相似文献
8.
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) 总被引:7,自引:0,他引:7
9.
J. A. J. M. van den Hurk P. M. van Zandvoort F. Brunsmann I. H. Pawlowitzki W. Holzgreve P. Szabo F. P. M. Cremers B. A. van Oost 《American journal of medical genetics. Part A》1992,44(6):822-823
We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis. © 1992 Wiley-Liss, Inc. 相似文献
10.
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions 总被引:5,自引:0,他引:5
Huber Irene; Bitner-Gllndzicz Maria; de Kok Yvette J.M.; van der Maarel Silvere M.; Ishikawa-Brush Yumiko; Monaco Anthony P.; Robinson David; Malcolm Susan; Pembrey Marcus E.; Brunner Han G.; Cremers Frans P.M.; Ropers Hans-Hilger 《Human molecular genetics》1994,3(7):1151-1154
We have found that the microsatellite marker AFM207zg5 (DXS995)maps to all previously described deletions which are associatedwith X-linked mixed deafness (DFN3) with or without choroideremiaand mental retardation. Employing this marker and pHU16 (DXS26)we have identified two partially overlapping yeast artificialchromosome clones which were used to construct a complete 850kb cosmid contig. Cosmids from this contig have been testedby Southern blot analysis on DNA from 16 unrelated males withX-linked deafness. Two novel microdeletions were detected inpatients which exhibit the characteristic DFN3 phenotype. Bothdeletions are completely contained within one of the known DFN3-deletions,but one of them does not overlap with two previously describeddeletions in patients with contiguous gene syndromes consistingof DFN3, chorolderemia, and mental retardation. Assuming thatonly a single gene is involved, this suggests that the DFN3gene spans a chromosomal region of at least 400 kb. 相似文献