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21.
Arbour NC; Zlotogora J; Knowlton RG; Merin S; Rosenmann A; Kanis AB; Rokhlina T; Stone EM; Sheffield VC 《Human molecular genetics》1997,6(5):689-694
Achromatopsia is an autosomal recessive disease of the retina,
characterized clinically by an inability to distinguish colors, impaired
visual acuity, nystagmus and photophobia. A genome-wide search for linkage
was performed using an inbred Jewish kindred from Iran. To facilitate the
genome-wide search, we utilized a DNA pooling strategy which takes
advantage of the likelihood that the disease in this inbred kindred is
inherited by all affected individuals from a common founder. Equal molar
amounts of DNA from all affected individuals were pooled and used as the
PCR template for short tandem repeat polymorphic markers (STRPs). Pooled
DNA from unaffected members of the kindred was used as a control. A
reduction in the number of alleles in the affected versus control pool was
observed at several loci. Upon genotyping of individual family members,
significant linkage was established between the disease phenotype and
markers localized on chromosome 2. The highest LOD score observed was 5.4
(theta = 0). When four additional small unrelated families were genotyped,
the combined peak LOD score was 8.2. Analysis of recombinant chromosomes
revealed that the disease gene lies within a 30 cM interval which spans the
centromere. Additional fine-mapping studies identified a region of
homozygosity in all affected individuals, narrowing the region to 14 cM. A
candidate gene for achromatopsia was excluded from this disease interval by
radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an
essential first step in the identification of the disease-causing gene.
相似文献
22.
Mejri S Salah AB Triki H Alaya NB Djebbi A Dellagi K 《Journal of medical virology》2005,76(2):185-193
This report is a population-based study describing the pattern of hepatitis C virus (HCV) infection in two distinct regions in Tunisia. The study included a total of 11,507 individuals sampled in 1996 from both genders, all age groups, urban and rural settings belonging to 2,973 families. HCV infection was assessed by commercial enzyme immunoassay (EIA) and immunoblot assays and detection of HCV RNA by PCR. HCV genotypes and subtypes were determined by sequencing in the 5'-untranslated region (UTR) viral genomic region and the INNO-LiPA HCVII genotyping kit. Genetic relatedness between HCV strains was assessed by sequencing of a portion of the NS5B region. HCV prevalence was significantly higher in the North-Western region than in the Southern one: 1.7% versus 0.2% (P < 10(-3), chi(2) = 8,506). There was no difference in positivity according to gender or living in rural or urban settings; the only significant risk factor was advanced age. HCV prevalence among household contacts of HCV positives was not significantly higher than the prevalence in the whole study population. These results indicate a heterogeneity in the geographical distribution of HCV in Tunisia. An increased HCV transmission occurs in the North-Western region with large predominance of genotype 1b (88%) and low contribution of intrafamilial transmission. 相似文献
23.
24.
Dalia O. Mohamed Mona M. Sayed Islam F. Abdelkawi Mahmoud H. Elshoieby Salah M. Khallaf Lamia M. Khallaf Doaa M. Fouad 《Current Urology》2021,15(1):11
Background:Randomizing patients to bladder preservation or radical cystectomy (RC) for the treatment of bladder cancer has not been practical, due to patient and physician preferences. Therefore, continually comparing the 2 treatment modalities is needed, in order to make the proper choice for each patient.Patients and methods:The records of T1–4N0M0 bladder cancer patients, who presented to the South Egypt Cancer Institute between 2007 and 2017 and were treated by either bladder preservation or RC were reviewed.Results:Out of the 166 included patients, 81 (48.8%) patients were treated by bladder preservation and 85 (51.2%) patients had RC. For the patients treated by bladder preservation and the patients treated by RC, the 5-year overall survival (OS) was 56% and 60% (p = 0.67), the 5-year local recurrence-free survival was 69% and 73% (p = 0.69), and the 5-year disease-free survival was 45% and 53% (p = 0.16), respectively. After propensity matching analysis, the mean 5-year OS was 58% for the bladder preservation patients and 61% for the RC patients (p = 0.51). It is notable that among the bladder preservation group, 8 patients (10%) had squamous cell carcinoma (SCC) pathology and refused RC. Their OS was 56% compared to 53% for the SCC patients treated by RC (p = 0.6).Conclusion:Bladder preservation is a safe alternative to cystectomy in transitional cell carcinoma stages T1–4aN0M0, and its use in SCC bladder cancer should be further studied, as it could be feasible to spare them from initial cystectomy. 相似文献
25.
H Thabet N Brahmi M Amamou N Ben Salah A Hédhili M Yacoub 《Veterinary and human toxicology》1999,41(5):320-321
Datura stramonium is a hallucinogenic plant which causes serious poisoning. Clinical symptoms are those of atropinic intoxication with psychiatric manifestations of dryness of mouth, mydriasis, tachycardia and hallucinations. Diagnosis is essentially clinical. Treatment is symptomatic and suppurative; prognosis is usually favorable. 相似文献
26.
Objectives
To optimize the surgical technique of the new extravesical seromuscular tunnel ureteroneocystostomy and to study the optimal relation between the length and width of the tunnel and the diameter of the normal and dilated ureters.Methods
The optimized technique was applied to the left ureters of 20 dogs; 10 with normal ureters and 10 after induction of ureteral dilation. The new technique was performed to maintain a ratio of 3:1 between the width of the tunnel and the diameter of the ureter and a ratio of 1:1 between the length of the tunnel and the ureteral diameter. The results were compared with those for 5 dogs in which unilateral direct ureterovesical reimplantation was performed without an antireflux procedure. All the dogs were evaluated by intravenous urography, radioisotope renography, and ascending cystography before and at 1, 3, and 6 months after ureteroneocystostomy.Results
All the dogs of the control group showed low-pressure vesicoureteral reflux and 3 demonstrated mild hydronephrosis and significant deterioration of the corresponding kidney. At 6-month follow-up, none of the 20 dogs subjected to the new technique showed deterioration of the function or configuration of the corresponding kidney. Moreover, the new technique was sufficient to prevent reflux in all but two dilated ureters that showed high-pressure vesicoureteral reflux.Conclusions
For the extravesical seromuscular tunnel to be effective in reflux prevention without obstruction, the width of the tunnel must be triple the diameter of the ureter, and the length of the tunnel covering the intact (nonspatulated) part of the ureter should be equal to its diameter. 相似文献27.
Assessment of the mutagenicity of dichloroacetic acid in lacI transgenic B6C3F1 mouse liver 总被引:2,自引:0,他引:2
Dichloroacetic acid (DCA) is a chlorination byproduct found in finished
drinking water. When administered in drinking water this chemical has been
shown to produce hepatocellular adenomas and carcinomas in B6C3F1 mice over
the animal's lifetime. In this study, we investigated whether mutant
frequencies were increased in mouse liver using treatment protocols that
yielded significant tumor induction. DCA was administered continuously at
either 1.0 or 3.5 g/l in drinking water to male transgenic B6C3F1 mice
harboring the bacterial lacI gene. Groups of five or six animals were
killed at 4, 10 or 60 weeks and livers removed. At both 4 and 10 weeks of
treatment, there was no significant difference in mutant frequency between
the treated and control animals at either dose level. At 60 weeks, mice
treated with 1.0 g/l DCA showed a 1.3-fold increase in mutant frequency
over concurrent controls (P = 0.05). Mice treated with 3.5 g/l DCA for 60
weeks had a 2.3-fold increase in mutant frequency over the concurrent
controls (P = 0.002). The mutation spectrum recovered from mice treated
with 3.5 g/l DCA for 60 weeks contained G:C-->A:T transitions (32.79%)
and G:C-->T:A transversions (21.31%). In contrast, G:C-->A:T
transitions comprised 53.19% of the recovered mutants among control
animals. Although only 19.15% of mutations among the controls were at T:A
sites, 32.79% of the mutations from DCA-treated animals were at T:A sites.
This is consistent with the previous observation that the proportion of
mutations at T:A sites in codon 61 of the H-ras gene was increased in
DCA-induced liver tumors in B6C3F1 mice. The present study demonstrates
DCA-associated mutagenicity in the mouse liver under conditions in which
DCA produces hepatic tumors.
相似文献
28.
Female sterilisation is an important component of National Family Welfare Programme. The target group is best motivated during the puerperium for such a procedure. However laparoscopic sterilisation which has got some distinct advantages, is not technically feasible at this time. The authors have used a technique where the advantages of cosmetic appearance, reduced post operative morbidity and reversibility can be conferred on the puerperal women.After trying out the method individually in some cases, a formal case control study design has been made and an evaluation study has been performed in 122 cases. The technique has been found to be cosmetically more acceptable, both at clientele and peer evaluation levels (p<0.001). Though all the four parameters of post operative morbidity have shown better results for the technique evaluated as against the conventional technique, statistical significance has been achieved in two of the parameters (p<0.05).KEY WORDS: Cosmetics, Female sterilisation, Post operative morbidity 相似文献
29.
30.