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Clinical issue/s: The Trapezio-Metacarpal joint (TM'J) is the second most common joint afflicted by Osteoarthritis in the hand (following DIP'J), and it is the most common surgically treated arthritic joint in the upper extremity. Age and gender are two factors related to risk of Osteoarthritis[for full text, please go to the a.m. URL], 14th Triennial Congress of the International Federation of Societies for Surgery of the Hand (IFSSH), 11th Triennial Congress of the International Federation of Societies for Hand Therapy (IFSHT), 11th Triennial Congress of the International Federation of Societies for Hand Therapy (IFSHT)

Purpose To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. Methods Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. Results Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts. Conclusions These observations suggest that an altered function of a gene at one of the translocation breakpoints on chromosome 3p22.3 or 5p15.1 is causally related to cataract development.

Microduplications of the Sotos syndrome region containing NSD1 on 5q35 have recently been proposed to cause a syndrome of microcephaly, short stature and developmental delay. To further characterize this emerging syndrome, we report the clinical details of 12 individuals from 8 families found to have interstitial duplications involving NSD1, ranging in size from 370 kb to 3.7 Mb. All individuals are microcephalic, and height and childhood weight range from below average to severely restricted. Mild-to-moderate learning disabilities and/or developmental delay are present in all individuals, including carrier family members of probands; dysmorphic features and digital anomalies are present in a majority. Craniosynostosis is present in the individual with the largest duplication, though the duplication does not include MSX2, mutations of which can cause craniosynostosis, on 5q35.2. A comparison of the smallest duplication in our cohort that includes the entire NSD1 gene to the individual with the largest duplication that only partially overlaps NSD1 suggests that whole-gene duplication of NSD1 in and of itself may be sufficient to cause the abnormal growth parameters seen in these patients. NSD1 duplications may therefore be added to a growing list of copy number variations for which deletion and duplication of specific genes have contrasting effects on body development.

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Background For many serous ovarian carcinomas, the indenti-fication of specific lymphatic endothelial markers has enabled the unambiguous characterisation of lymphangiogenesis during tumour progression. Aims To present an original technique of computerised segmentation of lymphatic vessels for their easy and unbiased quantification. Methods The method was implemented in the form of an original software package that calculates quantitative descriptors of lymphatic vessels. The input data are expected to be original histological images processed with the D2-40 endothelial marker while the results are the set of quantitative features of lymphangiogenesis. Results The computerised procedure of histological image analysis resulted in computing the following quantitative features. (a) The relative area occupied by the vessels is computed as the total amount of vessel pixels divided by the total number of pixels in the image. (b) The homogeneity of the distribution of vessels network over the image (tissue sample) space computing after the whole image is subdivided into 100 x 100 identical fragments. For each region the degree of distribution uniformity is calculated as the entropy value. (c) The relative area of small large and vessel. For computing this feature, the pixels belonging to the image boundary are removed by a standard erosion morphological operation. Then the ratio of the removed area to the original vessel area is calculated. The above procedure was thoroughly tested on a test set containing 5000 images of histological samples of about 100 patients stained with the help of D2-40 endothelial marker. Conclusion Future studies are necessary to determine whether intratumoural lymphatics are restricted only to certain cancer types and whether their presence in tumours has prognostic significance.