We developed an automated pipeline for the detection of single nucleotide polymorphisms (SNPs) in expressed sequence tag (EST) data sets, by combining three DNA sequence analysis programs: Phred, Phrap and PolyBayes. This application requires access to the individual electrophoregram traces. First, a reference set of 65 SNPs was obtained from the sequencing of 30 gametes in 13 maritime pine (Pinus pinaster Ait.) gene fragments (6671 bp), resulting in a frequency of 1 SNP every 102.6 bp. Second, parameters of the three programs were optimized in order to retrieve as many true SNPs, while keeping the rate of false positive as low as possible. Overall, the efficiency of detection of true SNPs was 83.1%. However, this rate varied largely as a function of the rare SNP allele frequency: down to 41% for rare SNP alleles (frequency < 10%), up to 98% for allele frequencies above 10%. Third, the detection method was applied to the 18498 assembled maritime pine (Pinus pinaster Ait.) ESTs, allowing to identify a total of 1400 candidate SNPs, in contigs containing between 4 and 20 sequence reads. These genetic resources, described for the first time in a forest tree species, were made available at http://www.pierroton.inra/genetics/Pinesnps. We also derived an analytical expression for the SNP detection probability as a function of the SNP allele frequency, the number of haploid genomes used to generate the EST sequence database, and the sample size of the contigs considered for SNP detection. The frequency of the SNP allele was shown to be the main factor influencing the probability of SNP detection.
Knees with chronic instability pose a difficult treatment challenge. In all cases, the contribution of coronal plane alignment to varus-valgus knee stability must be carefully considered and addressed prior to ligament surgery. Sagittal plane alignment is also key and must not be overlooked. Such considerations drive the indication for osteotomy as well as the type of osteotomy that is chosen. Level of evidence IV.
Clostridium tertium could be responsible forlate metal fragment bone and joint infection.LateC. tertium metal fragment bone and joint infections requires a multidisciplinary management. Late C. tertium metal fragment bone and joint infections requires metal extraction and prolonged antimicrobial therapy for healin
Isolated congenital elbow contracture is a rare upper-extremity disorder and there are few data about management of this condition. Authors report their experience after aggressive management of children with isolated congenital elbow contracture in flexion. Because of total absence of range of motion (ROM) improvement despites physical therapy (ROM 90-120°) and bone deformity, an anterior surgical release of the elbow was performed through an extensive lateral approach, at sixteen months of age. After surgery, this child was treated by three casts at maximal gained extension followed by sequential Turnbuckles splints. After five years of follow-up, the result was excellent with ROM 5-135°, normal function and absence of growth disturbance. The limiting factor of this protocol was excessive traction in elbow extension on the neurovascular structures, especially the radial nerve. This treatment represents an aggressive management with multiple general anaesthesia, but was found to be a valid option.
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