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Biomedical subjects

L De Smet

Publications and source records attributed to L De Smet.

At least 19 recordsLinked to original sources
PubMed1999

Trisomy 7 and trisomy 8 in dividing and non-dividing tumor cells in Dupuytren's disease.

Cytogenetic and molecular cytogenetic analysis is reported in a series of 40 tissue samples from 36 patients with Dupuytren's disease, presenting as palmar and/or finger nodules. No consistent structural chromosome changes could be found. Instead, recurrent clonal numerical abnormalities were demonstrated in 22 of 40 tissue nodules, involving trisomies of chromosome 7 or 8 and loss of the Y chromosome. In addition, we showed that trisomy 7 and trisomy 8 were also present in non-dividing cells.

Adult↗
PubMed1999

Avulsion of both extensor carpi radialis tendons: a case report.

Closed traumatic avulsion of both extensor carpi radialis tendons is reported in a young healthy patient. Early diagnosis important because the tendons tend to retract and anatomic repositioning is more difficult to perform with passing time. Diagnostic markers are the inability to actively extend the wrist and the presence of dorsal bone fragments on the lateral radiograph of the wrist. We recommend fixation of the avulsed fragments to restore the length and strength of the wrist extensors.

Adult↗
PubMed1999

Cutaneous sclerosing perineurioma with cryptic NF2 gene deletion.

Sclerosing perineurioma is a recently described variant of perineurioma that characteristically occurs in the fingers and palms of young adults. We report a cutaneous sclerosing perineurioma with preservation of the axons and Schwann cells in the center of the whorls of perineurial cells, a feature that previously was reported to be typically absent in these lesions. Additionally, clonal chromosomal abnormalities of chromosome 10 and a cryptic deletion of the 5'BCR and NF2 loci on chromosome 22 were present. These findings further support the hypothesis that a gene on chromosome 22 may play a role in the pathogenesis of perineurioma. The NF2 gene is a logical candidate because of its involvement in other nerve sheath tumors.

Adolescent↗
PubMed1999

Volar dislocation of the proximal interphalangeal joint of the finger: an indication for urgent operative treatment.

Two patients are described with persistent acute volar dislocation of the middle phalanx of a finger. Closed reduction was impossible due to intra-articular interposition of the lateral slip of the extensor mechanism, combined with a tear of a collateral ligament. It is important to recognize these injuries at an early stage and an operative treatment is required.

Female↗
PubMed1999

The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.

We report on a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome. The presence of constriction rings makes the limb anomalies in this case similar to those seen in the amniotic band disruption sequence. Vascular disruption--with or without secondary amniotic rupture--may be responsible for the observed anomalies. Therefore we believe that the present observation adds further evidence for the hypothesis that the Adams-Oliver syndrome is a vascular disruption sequence.

Abnormalities, Multiple↗
PubMed1999

Ulnar dimelia.

A case of ulnar dimelia with good preservation of upper limb function is described. In this particular case an association with liver cirrhosis, idiopathic scoliosis and dislocatable shoulder was observed.

Adult↗
PubMed1999

Segmentary fibrous dysplasia manifesting as macrodactyly.

In this report we describe the unusual manifestation of fibrous dysplasia of rays IV and V of the right hand and of rays III-IV of the left hand in a 12-year-old normal girl. The first symptoms of localised macrodactyly became progressively evident from the age of 8 years on.

Child↗
PubMed1999

Ulnar variance and its relationship to ligament injuries of the wrist.

An anatomic study on cadavers and a clinico-radiological study on patients were undertaken to verify if ligament injuries of the wrist could be associated with ulnar variance. Neither scapholunate nor triquetrolunate ligament injuries could be related to shorter or longer ulnae. Longer ulnae were associated with significantly more perforations of the triangular fibrocartilage complex (TFCC).

Adolescent↗
PubMed1999

Blatt dorsal capsulodesis for scapholunate instability.

This retrospective series reviews 17 patients with scapholunate instability treated with the Blatt procedure between 1994 and 1997. Indications were 11 cases of preradiographic instability, three dynamic and three static instabilities. Subjective and objective assessment was carried out. Average pain and level of activity score was 60.8/80 (good). Only three patients failed to continue their jobs. Ten patients were fully satisfied, and seven had minor to major reservations. Flexion loss averaged 11 degrees and extension loss was 11.3 degrees. Grip force improved significantly by 11.2 kg. Associated scapholunate interosseous ligament repair in 6 patients resulted in no further improvement. Major complications were deep infection (one case) and reflex sympathetic dystrophy (two cases). Given the lack of a superior procedure, we considered the Blatt capsulodesis a valuable therapeutic option for cases of preradiographic and dynamic instability, or as an adjunct to scapholunate interosseous ligament repair in more acute lesions.

Adolescent↗
PubMed1999

Radial tunnel release and tennis elbow: disappointing results?

In a retrospective study, 19 patients with 20 decompressions of the posterior interosseous nerve for radial tunnel syndrome were reviewed. The results were evaluated using Roles and Maudsley's criteria; they were found to be consistent with those previously reported: i.e. 75% favorable outcomes. Despite this finding only 8 patients (40%) stated they were satisfied. The main reason was residual pain. Shorter delay between the onset of symptoms and surgical treatment as well as simultaneous release of the lateral epicondylar muscles was found to influence positively patient satisfaction. These findings suggest that the scoring system used in the present study and also in previous studies is inappropriate. They also cast some doubt on the role of compression of the posterior interosseous nerve in the pathogenesis of chronic lateral elbow pain.

Adult↗
PubMed1998

Characterization of cytochrome c-556 from the purple phototrophic bacterium Rhodobacter capsulatus as a cytochrome-c peroxidase.

A cytochrome c-556 was purified from Rhodobacter capsulatus and the complete amino acid sequence was determined. It contains 328 amino acid residues and two typical heme-binding sites at cysteine residues 54 and 57 and at residues 200 and 203. It is homologous to the family of bacterial cytochrome c peroxidases (BCCP) with 69% identity to Paracoccus denitrificans BCCP and 60% identity to Pseudomonas aeruginosa BCCP for which there is a three-dimensional structure. There is lesser similarity to the mauG gene products from methylotrophic bacteria which are thought to be involved in biosynthesis of the quinone cofactor of methylamine dehydrogenase. Translated genes from Escherichia coli and Helicobacter pylori are also related to the bacterial cytochrome c peroxidases. The divergence of this family of proteins is reflected in the fact that the reported sixth heme ligands are not conserved, except in Pseudomonas, Rhodobacter and Paracoccus. This suggests that homologs of BCCP may fold differently and/or may not have the same enzymatic activity as the prototypic protein from Ps. aeruginosa. We found that the Rb. capsulatus BCCP is active with both Rb. capsulatus cytochrome c2 and with horse cytochrome c as substrates (Km values 60 microm and 6 microm, respectively). The turnover number was 40 s(-1) and the Km for peroxide was 33 microm. We have thus confirmed that the Rb. capsulatus protein is a cytochrome c peroxidase.

Amino Acid Sequence↗