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The chromosomal aberration t(2:5) resulting in the juxtaposition of NPM and ALK genes is a well-known feature of several Ki-1+ anaplastic large cell lymphomas (ALCL) of the T-cell type. However, conflicting results have been reported concerning the presence of this gene rearrangement in other ALCL and Hodgkin's disease (HD), respectively. We performed NPM/ALK RT-PCR on 14 cases of ALCL expressing distinct myelomonocytic markers, e.g. CD11c, CD13, CD14 or CD68, but neither T-cell nor B-cell associated antigens (null cell phenotype). The specific translocation was found exclusively in six childhood tumours previously diagnosed as malignant histiocytosis (MH), whereas all adult lymphomas (three ALCL without characteristics of MH, three secondary ALCL following HD) and two paediatric cases of secondary ALCL following HD did not show NPM/ALK gene fusion products. By Southern blotting, the status of T-cell receptor (TCR) and immunoglobulin heavy chain genes (IgH) were investigated; two patients with initially diagnosed MH had the TCRdelta-chain gene rearranged (Ddelta2-Ddelta3 and Vdelta1-Jdelta1, respectively). IgH rearrangements were detected in only one patient with secondary ALCL. Our data indicate a high association of previously diagnosed MH and NPM/ALK gene rearrangements. In one case, this specific translocation was demonstrated at an early stage of development; in another, a mature TCRdelta-chain gene rearrangement was detected. These data support the hypothesis of a lymphoid origin of this subgroup of Ki-1 positive ALCL previously diagnosed as MH.

A rare polymorphism on glycoprotein (GP) IIIa is reported. Sequencing of a 482-base-pair (bp) PCR product of the genomic DNA of GPIIIa revealed a single-base exchange of a G<==>T polymorphism at base 12,569 that created an additional restriction site for MspI. This single-point mutation (frequency in Caucasians 0.00386) is on the HPA-1b gene (HPA-1bvar) and codominantly inherited. The exchange of a G for a T results in a leucine-to-arginine substitution at amino acid 40 from the NH2 terminus. The binding of anti-HPA-1a and -1b antibodies to HPA-1bvar platelets is not influenced.

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Foot deformities make up a large percentage of all orthopaedic complaints in patients with Down syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Larsen syndrome, and osteogenesis imperfecta.» Some common causes of foot deformities in these conditions include increased ligament laxity, hypotonia, and hypermobility of the joints.» Treatment options for syndromic foot deformities include the use of foot orthoses, physical therapy, bracing, and various surgical procedures.» There is limited evidence supporting the use of surgical intervention to correct foot deformities associated with Down syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Larsen syndrome, and osteogenesis imperfecta. Therefore, further research is needed to determine the short-term and long-term outcomes of these procedures.

A rare polymorphism on glycoprotein (GP) Ilia is reported. Sequencing of a 482- base-pair (bp) PCR product of the genomic DNA of GPIIIa revealed a singlebase exchange of a G↔T polymorphism at base 12,569 that created an additional restriction site for Mspl. This single-point mutation (frequency in Caucasians 0.00386) is on the HPA-lb gene (HPA-lb^(var)) and codominantly inherited. The exchange of a G for a T results in a leucine-to-arginine substitution at amino acid 40 from the NH(2) terminus. The binding of anti-HPA-la and -lb antibodies to HPA-lb(var) platelets is not influenced.

No abstract