Phlebographic appearances of the left renal and left testicular veins

The normal phlebographic appearances of the left renal and left testicular veins are described, based upon the findings in 100 patients admitted because of confirmed or possible testicular tumor. The patients had no metastases demonstrated at foot lymphography, urography and phlebography of the inferior vena cava.     

Sidewall-holed needle for anterior chamber infusion

A solid-tipped, sidewall-holed needle for anterior chamber infusion during intraocular surgery is described. The needle is passed through the corneal limbus and entirely across the periphery of the anterior chamber, so that the point emerges 2 to 3 clock hours from the entry site, with the sidewall hole centered in the chamber 1 to 1.5 clock hours from both entry and exit sites. There is no edge or point in the anterior chamber, the needle is firmly anchored to the eye at the two fixation points, the globe may be freely rotated, and the surgical field is unobstructed.     

Proximal interphalangeal joint silicone replacement arthroplasty: clinical results using an anterior approach

Sixty-nine proximal interphalangeal joint silicone arthroplasties in 36 patients inserted through an anterior approach were reviewed. Average followup time was 3.4 years. The average extension deficit was slightly improved from 17 degrees to 8 degrees, but the total active motion (active flexion minus active extension) did not significantly increase (44 degrees to 46 degrees). Coronal plane deformities were not successfully corrected. Pain relief was obtained in 67 of 69 digits. There were 12 digits with complications, and five implants fractured. The anterior approach allows preservation of the central slip insertion and initiation of immediate active and passive joint motion. With proper indications, careful surgical technique, and a supervised therapy protocol, proximal interphalangeal joint silicone arthroplasty is a useful operation for pain relief and functional gain.     

Arthroscopic-assisted reduction of distal radius fractures

The outcomes of seven patients with severe comminuted intraarticular fractures of the distal radius treated by arthroscopic reduction and percutaneous external fixation (ARPEF) were retrospectively reviewed. All of the fractures were classified as C3 types using the AO classification scheme. Outcomes were evaluated using the Gartland and Werley functional criteria, an objective wrist examination, a radiographic analysis, and a self-assessment outcome form at an average follow-up of 27 months (range, 12 to 45 months). All patients were free of pain and had returned to their prior occupations. No patient had articular incongruency of greater than 1 mm, and there was no evidence of radiocarpal degenerative change. Active range of motion and maximal grip strength averaged 92% and 98%, respectively, of the uninjured wrist. The technique of arthroscope-assisted reduction and percutaneous external fixation yielded excellent results in a small group of patients, with minimal complications.     

Haemophilia A: mutation type determines risk of inhibitor formation

The formation of factor VIII antibodies is a major problem for replacement therapy of haemophilia A patients. Antibodies occur in 5-30% of patients with severe haemophilia A. The reason for antibody formation is still unknown. In this study we correlate for the first time different factor VIII gene mutations, stop- and missense mutations, large and small deletions and intrachromosomal intron 22 recombinations to antibody formation. A total of 364 patients with known inhibitor status of our institute, of the database, and of 3 studies representing intron-22-inversion data are included. The results show that the risk for developing factor VIII antibodies is strongly related to stop mutations. large deletions and intrachromosomal recombinations. A probable explanation could be the complete lack of endogenous circulating factor VIII protein in these cases. Other factors that might be important for the pathogenesis of inhibitor formation, e. g. the antenatal period, as well as possible therapeutic effects, are discussed.     

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal

Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was employed to identify mutations in SOX9, the chromosome 17q24 gene responsible for CD and autosomal sex reversal in man. We have screened seven CD patients with no cytologically detectable chromosomal aberrations and two CD patients with chromosome 17 rearrangements for mutations in the entire open reading frame of SOX9. Five different mutations have been identified in six CD patients: two missense mutations in the SOX9 putative DNA binding domain (high mobility group, or HMG, box); three frameshift mutations and a splice-acceptor mutation. An identical frameshift mutation is found in two unrelated 46,XY patients, one exhibiting a male phenotype and the other displaying a female phenotype (XY sex reversal). All mutations found affect a single allele, which is consistent with a dominant mode of inheritance. No mutations were found in the SOX9 open reading frame of two patients with chromosome 17q rearrangements, suggesting that the translocations affect SOX9 expression. These findings are consistent with the hypothesis that CD results from haploinsufficiency of SOX9.