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D Leclerc

Publications and source records attributed to D Leclerc.

69 records · Page 4Linked to original sources

[Mucoviscidosis].

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Cystic Fibrosis↗

[Fractures of the anterolateral tubercle of the distal tibial epiphysis in adolescence (author's transl)].

The authors have observed this type of fracture in 5 adolescents. They describe the etiology and the mechanism of trauma by internal rotation of the tibia combined with eversion of the foot. These fractures create a tibio-fibular diastasis and disrupt the articular surface. It is concluded that conservative treatment is not satisfactory and that the bone fragments should be fixed accurately by screwing, using an anterolateral approach.

Adolescent↗

[Comparative anatomical result of conservative treatment and surgery in severe recent sprains of the ankle (author's transl)].

Severe recent sprains involving the lateral ligament of the ankle have been the object of numerous publications in recent years. Most authors have recommended the extension of the indications for open surgery. This lesion which was previously treated by immobilisation or even immediate physiotherapy is now operated on by numerous surgeons. In view of the very subjective character of the patient's opinion, and of the opinion of surgeons, it seemed logical to compare the radiological result in two series of similar severity operated on or treated by simple plaster immobilisation. One may note that the results observed are very similar, even when the accident gives rise to considerable separation of the tibio-talus joint line. Perhaps the figures published here will contribute to make surgery less often indicated.

Adult↗

Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

Propionyl-CoA carboxylase (PCC, EC 6.4.1.3) is a mitochondrial, biotin-dependent enzyme that functions in the catabolism of branched-chain amino acids, fatty acids with odd-numbered chain lengths, and other metabolites. It catalyzes the ATP-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA. PCC is composed of two types of subunits, likely as alpha4beta4 or alpha6beta6, with the alpha subunit containing the covalently bound biotin prosthetic group. A genetic deficiency of PCC activity causes propionic acidemia, a potentially fatal disease with onset in severe cases in the newborn period. Affected patients may have mutations of either the PCCA or PCCB gene. In this study, we have determined the structure of the human PCCA gene which, at the present time, is only partially represented in the databases. Based on reported ESTs and confirmed by RT-PCR, we also redefine the translation initiation codon to a position 75 nucleotides upstream of the currently accepted initiation codon. We show the distribution of mutations, including three identified in this study, and renumber all reported mutations to count from the new initiation codon. The gene spans more than 360 kb and consists of 24 exons ranging from 37 to 335 bp in length. The introns range in size from 104.bp to 66 kb. We have also determined the nucleotide sequence of approximately 1 kb of the 5'-flanking region upstream of the ATG translation initiation site. The proximal 400 bp of the 5'-flanking region shows a high G + C content (67%) and is part of a putative 1-kb CpG island that extends into exon 1 and part of intron 1. The putative promoter lacks a TATA box but contains two AP-1 sites and a conservatively defined consensus GC box, the latter characteristic of the core binding sequence of the Sp1 transcription factor.

Alternative Splicing↗

Transgenic tobacco plants expressing a truncated form of the PAMV capsid protein (CP) gene show CP-mediated resistance to potato aucuba mosaic virus.

Four constructs of the potato aucuba mosaic virus (PAMV) coat protein (CP) gene were engineered for expression in tobacco plants: The full-length CP sequence (FL CP), two truncated forms--one at the N terminus (46 amino acid residues are deleted) (NT138), one in the conserved core portion (86 amino acids deleted) (CT258) of the gene--and an antisense RNA construct. These constructs were introduced into tobacco plants (Nicotiana tabacum) via Agrobacterium tumefaciens-mediated transformation. The plants transformed with the NT138 and FL CP constructs produced the mRNAs and proteins from the respective transgene. Transformants with the CT258 construct produced the transgenic mRNA, but the modified CP was not detected in the 20 different transformants tested. Transgenic R0 and R1 tobacco plants expressing the full-length, CT258, and the antisense constructs exhibited protection to PAMV infection and a delay in symptom development when inoculated with 0.1 and 0.5 microgram/ml of purified PAMV. Transgenic plants expressing the NT138 construct did not confer any detectable protection to PAMV infection. These results suggest that an engineered coat protein mediated resistance (CPMR) can be obtained from a CP gene truncated in its core region. The role of the N-terminal domain of the CP in the CPMR of PAMV and the implication of either the RNA or the protein in the protection is discussed.

Base Sequence↗