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Bilateral Absence (bilateral + absence)
Kinds of Bilateral Absence Selected AbstractsA T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD),HUMAN MUTATION, Issue 1 2005Antoine Disset Abstract The different alleles at the (TG)m(T)n polymorphic loci at the 3, end of the human CFTR intron 8 determine the efficiency by which exon 9 is spliced. We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries a [TG11T7; p.Phe508Cys; p.Met470Val] haplotype on the other chromosome. To better understand the complex regulation of exon 9 splicing, we analyzed the levels of correctly spliced CFTR transcripts in six CFTR-expressing epithelial cell lines derived from lung, colon, testis, vas deferens, and epididymis transiently transfected with four CFTR minigenes (pTG11T7, pTG12T7, pTG12T5, and pTG12T3). In this work, we show that a decrease in the Ts at the polymorphic locus in a TG12 background determines a cell-type dependent reduction in exon 9+ transcripts that is not related to the basal splicing efficiency in the cell line. These data emphasize the role of the T5 allele in CBAVD and identify the T3 allele as a severe cystic fibrosis (CF) disease-causing mutation. Finally, UV cross-linking experiments demonstrated that tissue-specific trans -acting splicing factors do not contribute to the different patterns of exon 9 splicing found between the cell lines. However, we observed that lower numbers of Ts can alter the binding of TDP-43 (TDP43 or TARDBP) to its specific target ug12 in a tissue-specific manner. Our results support the idea that the ratio of general splicing factors plays a role in the tissue variability of exon 9 alternative splicing. Hum Mutat 25:72,81, 2005. © 2004 Wiley-Liss, Inc. [source] Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferensINTERNATIONAL JOURNAL OF UROLOGY, Issue 3 2008Hideo Sakamoto Abstract: Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations associated with cystic fibrosis have been reported to be rare in Japanese patients with congenital bilateral absence of vas deferens (CBAVD). A 28-year-old Japanese male was referred for infertility. Vas deferens and epididymis were not palpable bilaterally. Semen analyses showed azoospermia with volumes below 2.0 ml. Serum follicle-stimulating hormone value was slightly elevated. Seminal fructose concentration was also very low. Scrotal ultrasonography showed absence of the bodies and tails of the right and left epididymides. Imaging studies showed cystic dysplasia of the right seminal vesicle and agenesis of the left seminal vesicle. A CFTR gene mutation of I556V was found. Recent studies show that prevalence of CFTR gene mutation in Japanese CBAVD patients may be approximately equal to that of the Caucasian population. Genetic counselling may be recommended for any couple attempting assisted reproduction technology when the man has CBAVD. [source] Clinical findings in congenital absence of the vasa deferentiaANDROLOGIA, Issue 1 2000Dr W.-H. Summary. In a clinical study, 105 patients with congenital bilateral absence of the vas deferens (CBAVD) and 18 with congenital unilateral absence of the vas deferens (CUAVD) were investigated. CUAVD was observed on the left side in 66%. Renal agenesis was more frequent in CUAVD (73.7%) than in CBAVD (11.8%). The leading signs of CBAVD are low pH level (average 6.5) and low volume of the ejaculate (average 0.95 ml). Testicular biopsies of 52 patients revealed normal spermatogenesis or hypospermatogenesis (33% in CBAVD; 45% in CUAVD). Genetic probing and counselling concerning cystic fibrosis are necessary if extracorporal microfertilization is considered. The absence of the vas deferens was often overlooked by the first investigator, the average time until correct diagnosis being 4.3 years. As artificial reproduction technology becomes more common, detection of vasal agenesis will certainly be made earlier and more frequently in the future. In order to assure compatibility of subsequent prospective studies about CBAVD and CUAVD, the following investigations are considered to be necessary: (i) semen analysis (pH, volume); (ii) renal ultrasonography or excretory urogram (screening for renal agenesis); (iii) genetic cystic fibrosis screening. [source] The contribution of the palmaris longus muscle to the strength of thumb abductionCLINICAL ANATOMY, Issue 4 2010Hope Gangata Abstract The palmaris longus muscle (PLM) is described as a weak flexor of the wrist and a tensor of the palmar aponeurosis, but not a thumb abductor. The PLM is believed to aid thumb abduction through its insertion onto the thenar eminence. Two groups, both right hand dominant, were selected from 1,200 sampled participants. The first group comprised of 38 subjects with unilateral presence of the PLM and was used to determine the strength of thumb abduction. The second group comprised of 30 subjects, with bilateral presence of the PLM, and it was used to calculate the effects of hand dominance. A significant number of subjects with bilateral absence of the PLM were observed and undocumented. Using a dynamometer in subjects with unilateral presence of the PLM, the force of thumb abduction was significantly greater on the hand with a PLM than the one without it (P = 0.014), irrespective of hand dominance. In the second sample with bilateral PLM, thumb abduction on the dominant hand was 10% stronger than on the nondominant hand and was similar to the universally accepted average of 10% increase in grip strength of the dominant hand. Thus, 10% was deducted from all the dominant hands, and the force of thumb abduction remained greater on the hand with PLM than the hand without it (P = 0.049). The results of this study demonstrated the PLM to be involved in thumb abduction, and the authors therefore recommend that this action of the muscle be universally accepted by anatomists and hand surgeons. Clin. Anat. 23:431,436, 2010. © 2010 Wiley-Liss, Inc. [source] The frequency of absence of palmaris longus in a South African population of mixed raceCLINICAL ANATOMY, Issue 4 2010Robert Ndou Abstract The palmaris longus (PL) is a weak flexor of the wrist that may be harvested as a tendon graft and used in surgical procedures for reconstructive purposes. The PL is congenitally absent in 15% of the worldwide population. However, the frequency of absence varies considerably among different population groups, being as high as 63.9% in the Turkish population and as low as 3% in the black population in the Republic of Congo. In this study, South African persons of mixed race (n = 201) were assessed by two anatomists for the presence of the PL tendon using three clinical tests, namely the Traditional Test, Mishra's Test II, and the Gangata Test. The most reliable of the three tests used was determined using Kendall's coefficient of concordance. Of the total number of subjects used, 11.5% had absence (either bilaterally or unilaterally) of the PL tendon. There was a 5.5% bilateral absence of the PL. The study revealed that the PL tendon may present in six different patterns according to the clinical assessment tests applied, the presence or absence of the PL alongside the flexor capi radialis, and the degree of prominence of PL, if present. Using the Kendall's coefficient of concordance, the Mishra's Test II, and the Gangata Test, both involving abduction of the thumb, were found to be most effective in revealing the PL. The frequency of absence of the PL in South Africans of mixed race has been determined. Clin. Anat. 23:437,442, 2010. © 2010 Wiley-Liss, Inc. [source] A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindredCLINICAL GENETICS, Issue 1 2006JC Clarke Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the associations of hearing loss, branchial arch defects and renal anomalies. Branchiootic (BO) syndrome is a related disorder that presents without the highly variable characteristic renal anomalies of BOR syndrome. Dominant mutations in the human homologue of the Drosophila eyes absent gene (EYA1) are frequently the cause of both BOR and BO syndromes. We report a South African family of Afrikaner descent with affected individuals presenting with pre-auricular abnormalities and either hearing loss or bilateral absence of the kidneys. Genetic analysis of the pedigree detected a novel EYA1 heterozygous nonsense mutation in affected family members but not in unaffected family members or a random DNA panel. Through mutational analysis, we conclude that this particular mutation is the cause of BOR/BO syndrome in this family as a result of a truncation of the EYA1 protein that ablates the critical EYA homologous region. To the best of our knowledge, this is the first case of BOR/BO syndrome reported in Africa or in those of the Afrikaner descent. [source] | |||||||||||||