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91.
Margolis RL; Stine OC; McInnis MG; Ranen NG; Rubinsztein DC; Leggo J; Brando LV; Kidwai AS; Loev SJ; Breschel TS; Callahan C; Simpson SG; DePaulo JR; McMahon FJ; Jain S; Paykel ES; Walsh C; DeLisi LE; Crow TJ; Torrey EF; Ashworth RG; Macke JP; Nathans J; Ross CA 《Human molecular genetics》1996,5(5):607-616
The two most consistent features of the diseases caused by trinucleotide
repeat expansion-neuropsychiatric symptoms and the phenomenon of genetic
anticipation-may be present in forms of dementia, hereditary ataxia,
Parkinsonism, bipolar affective disorder, schizophrenia and autism. To
identify candidate genes for these disorders, we have screened human brain
cDNA libraries for the presence of gene fragments containing polymorphic
trinucleotide repeats. Here we report the cDNA cloning of CAGR1, originally
detected in a retinal cDNA library. The 2743 bp cDNA contains a 1077 bp
open reading frame encoding 359 amino acids. This amino acid sequence is
homologous (56% amino acid identify and 81% amino acid conservation) to the
Caenorhabditis elegans cell fate-determining protein mab-21. CAGR1 is
expressed in several human tissues, most prominently in the cerebellum, as
a message of approximately 3.0 kb. The gene was mapped to 13q13, just
telomeric to D13S220. A 5'-untranslated CAG trinucleotide repeat is highly
polymorphic, with repeat length ranging from six to 31 triplets and a
heterozygosity of 87-88% in 684 chromosomes from several human populations.
One allele from an individual with an atypical movement disorder and
bipolar affective disorder type II contains 46 triplets, 15 triplets longer
than any other allele detected. Though insufficient data are available to
link the long repeat to this clinical phenotype, an expansion mutation of
the CAGR1 repeat can be considered a candidate for the etiology of
disorders with anticipation or developmental abnormalities, and
particularly any such disorders linked to chromosome 13.
相似文献
92.
Purpose
The relationship between congenital talipes equinovarus (CTEV) and developmental dysplasia of the hip (DDH) remains uncertain. The role of routine hip screening in children with CTEV is debated. A recent study has found a high incidence of DDH in patients with CTEV. The aim of our study was to determine the true prevalence of radiographic hip dysplasia and identify the need for routine hip screening in patients treated for CTEV.Methods
From a single centre database of 165 children consisting of 260 CTEV, a prospective radiological prevalence study of 101 children was performed over a period of 3 months. A single anterior-posterior pelvic radiograph was performed at a minimum age of 5 months. The DDH was determined by a single senior investigator based on the age-adjusted acetabular index (AI) as described by Tonnis.Results
There were no dislocations or subluxations. According to the age-adjusted AI, 16 children had ‘light’ dysplasia and one child had ‘severe’ dysplasia. The child with severe dysplasia was known to have DDH and had already undergone treatment. The 16 children with light dysplasia did not require any form of treatment.Conclusion
Out of one hundred and one children with CTEV, only one had DDH requiring treatment. This is consistent with the majority of the literature supporting the premise that there is no true association between CTEV and DDH. We, therefore, feel that routine hip screening for children with CTEV is not supported by current evidence and cannot be recommended. 相似文献93.
Proteolytic inactivation of human factor VIII procoagulant protein by activated human protein C and its analogy with factor V 总被引:21,自引:1,他引:21
Purified human factor VIII procoagulant protein (VIII:C) was treated with purified human activated protein C (APC) and the loss of VIII:C activity correlated with proteolysis of the VIII:C polypeptides. APC proteolyzed all VIII:C polypeptides with mol wt = 92,000 or greater, but not the doublet at mol wt = 79-80,000. These results and our previous thrombin activation studies of purified VIII:C, are analogous with similar studies of factor V and form the basis for the following hypothesis: activated VIII:C consists of heavy and light chain polypeptides [mol wt = 92,000 and mol wt = 79-80,000 (or 71-72,000), respectively] which are similar in Mr to the heavy and light chains of activated factor V. Thrombin activates VIII:C and V by generating these polypeptide chains from larger precursors and APC inactivates both molecules by cleavage at a site located in the heavy chain region of activated VIII:C and V. 相似文献
94.
Inadequate dialysis has been associated with high morbidity and mortality in end-stage renal disease (ESRD) patients receiving maintenance hemodialysis. The accurate estimation of dialysis adequacy, measured either as a calculated urea kinetics (Kt/V) or a simple urea reduction ratio (URR) is dependent on the proper collection of blood samples for predialysis and postdialysis blood urea nitrogen (BUN) determination. Because no established protocol exists for blood sampling, we surveyed the study cohort of dialysis centers participating in the National Kidney Foundation Council on Renal Nutrition National Research Question Collaborative Study to determine the comparability of BUN data that were collected to calculate URR to determine adequacy of dialysis. Surveys were completed by 100% of the 202 units participating: 195 in the United States (from 43 states) and seven from Canada, treating approximately 15,000 hemodialysis patients in total. The distribution of the sample by the type of facility mirrored that of 1996 United States Renal Data System (USRDS) Annual Report facilities data. Results showed a 5.0% error in predialysis blood draw and an 8.4% to 41.6% error in the postdialysis counterpart. There was a large variability in the observed postdialysis methods in general. Dilution of predialysis sample with either heparin or saline will falsely underestimate Kt/V and URR. The presence of access-derived, recirculated blood in the postdialysis sample will falsely overestimate Kt/V and URR. Excessive delay in drawing postdialysis sample will reduce Kt/V and URR because of urea rebound. Adoption by all dialysis providers of a uniform blood sample draw procedure will result in a consistency necessary to allow reliable and valid comparison of adequacy of dialysis parameters within and between ESRD patients, units, and clinical trials. 相似文献
95.
96.
97.
George?Alexander Chalamalasetty?S?Baba Kamal?Chetri TS?Negi Gourdas?ChoudhuriEmail author 《BMC gastroenterology》2005,5(1):29
Background
The use of Lamivudine in chronic hepatitis B (CHB) is well known, however the reported rate of HBeAg sero-conversion and its durability post-treatment have varied considerably. We undertook the present study to study the effect of Lamivudine on HBeAg loss and seroconversion rates in Indian patients of CHB in relation to frequency, predictors and durability. 相似文献98.
99.
100.