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In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation.

We revised the clinical files of 326 patients who underwent nailfold capillaroscopy. These patients could be subdivided into 4 groups: I: patients with clinical suspicion of connective tissue disease, II: patients with isolated Raynaud's phenomenon, III: patients with existing connective tissue disease, IV: patients with acrocyanosis, chronic pernio or related disorders. The presence of megacapillaries was noted. The sensitivity of their presence for the various categories of connective tissue disease was as follows: systemic sclerosis (n = 11): 100%, CREST (n = 15): 73%, MCTD (n = 9): 56%, dermatomyositis (n = 7): 86%. Nineteen patients with megacapillaries had no final diagnosis of connective tissue disease (specificity 93.3%). The positive predictive value of the presence of megacapillaries for a scleroderma spectrum disorder (SSD) was 63.5% and the negative predictive value of a normal capillaroscopy 96.7%. We conclude that nailfold capillaroscopy can be advised to rule out SSD's.

We studied the platelets of 8 patients with myelodysplasia aged 49-77 years, using both ultrastructural and functional techniques. Five of the 8 patients were classified as having refractory anaemia, and 3 as refractory anaemia with excess of blasts (RAEB). Electron microscopically, the myelodysplastic patients had in addition to normal ones, platelets containing significantly less alpha-granules. In part of these hypogranular platelets, the dense tubular system was abundant, but in contrast with normal platelets, it was not dispersed between the other organelles, nor did it form a membrane complex with the open cannalicular system. From a functional point of view, collagen-induced shape change was the most frequently disturbed parameter: there was a total loss of collagen-induced shape change in 5 patients. In 2 patients, there was a complete lack of response to collagen in platelet-rich plasma (both shape change and aggregation); in one of them, there was also a total loss of adenosine triphosphate secretion in response to all inducers tested. After 4 years of follow-up, 5 patients had died, of whom 3 were RAEB patients. An initial complete absence of collagen-induced shape change was found in these 5 patients, while in the 3 patients who were still alive at the end of the follow-up period, collagen-induced shape change was normal in 2 and slightly diminished in one.

To evaluate the accuracy of venous duplex, results obtained in 101 patients are compared with venography. A first group consisted of 48 patients with clinically suspected deep vein thrombosis. In 30 of them a positive duplex scan was obtained and all had subsequently a positive venography. Eighteen patients with a normal duplex scan had a normal venography. Another group of 53 patients were tested preoperatively for varicose vein surgery. No obstruction of the venous system was withheld with duplex but 3 patients had an old thrombosis on venography. Thus duplex is a highly reliable method to detect proximal thrombosis in clinically suspected patients but detection of late sequelae of thrombosis may be more difficult.

In connection with a case-study we go further into the subject of a subcutaneous injection of fysostigmine as an alternative way to obtain an ejaculation with men suffering a cross-lesion but still wishing to have children.