Invited commentary

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46674/1/238_2004_Article_BF00208331.pd

Angiolymphoid Hyperplasia With Eosinophilia‐Acquired Port‐Wine‐Stain–Like Lesions: Attempt At Treatment With The Argon Laser

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/110832/1/hed00011.pd

Argon laser surgery of mucous membranes papillomatosis in EEC syndrome and Goltz syndrome

This article describes successful results after argon laser surgery of verrucous and papillomatous lesions on the mucous membranes of the lips in two patients; the first with the EEC syndrome and the second with the Goltz syndrome. Our report is confirmation that laser energy, because is not cumulated in tissues, may be safely used for retreatment of these recalcitrant lesions.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46676/1/238_2004_Article_BF00176635.pd

Intracellular collagen fibers in the capsule around silicone expanders in guinea pigs

Ultrastructural studies of fibrous capsules surrounding silicone tissue expanders in guinea pigs revealed a number of fibroblasts containing collagen fibers inside cytoplasm with typical periodicity. These fibers were single or multiple, appeared straight, coiled, or bent, and lay in narrow, undulating membrane spaces. These intracellular collagen fibers were found in as many as 15% of the cells in capsules between 7 and 12 weeks of expansion. These observations suggest that during capsule development there is some imbalance between the synthesis of collagen fibers and their degradation. It is possible that increased synthesis of collagen fibers as well as their phagocytosis by fibroblasts may exist simultaneously.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/24922/1/0000349.pd

Cellular haemangioma

Light and electron microscopic studies were conducted on the immature vascular tumors of two infants, containing various stages of differentiation of the blood vessels and both benign haemangioendotheliomas and haemangiopericytomas. We were able to confirm the existance of two kinds of hyperplastic, immature cells i.e. endothelial cells and pericytes in the same tumor. Presence of crystalloid inclusions in the endothelial cells and absence of the Weibel-Palade bodies, as well as a deficiency in factor VIII-related antigen and no tissue fibrinolytic activity, suggested that the endothelial cells in these lesions were immature. Electron microscopic studies appear more decisive in the diagnosis of heterogenous cellular vascular tumors than light microscopy and if available should be used to aid in the final diagnosis. The authors propose that the term cellular haemangioma would be more appropriate in describing this vascular entity.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/47515/1/428_2004_Article_BF00428503.pd

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

DNA pooling is an efficient method to rapidly perform genome-wide linkage scans in autosomal recessive diseases in inbred populations where affected individuals are likely to be homozygous for alleles near the disease gene locus. We wanted to examine whether this approach would detect linkage in autosomal dominant (AD) disorders where affected individuals may share one allele identical by descent at loci tightly linked to the disease. Two large outbred pedigrees in which the AD diseases familial venous malformation (FVM) and hereditary hemorrhagic telangiectasia (HHT1), linked to 9p and 9q, respectively, were investigated. Separate pools of DNA from affected ( n = 21 for FVM and 17 for HHT1) and unaffected family members ( n = 9 FVM and HHT1), and 25 unrelated population controls were established. Polymorphic markers spanning chromosome 9 at approximately 13.5-cM intervals were amplified using standard PCR. Allele quantitation was performed with a fluorimager. Visual inspection of allele intensities and frequency distributions suggested a shift in frequency of the most common allele in the affecteds lane when compared to control lanes for markers within 30 cM of the FVM and HHT1 loci. These subjective assessments were confirmed statistically by testing for the difference between two proportions (one-sided; P ≤ 0.05). When using population controls, the true-positive rates for FVM and HHT1 were 5/5 and 2/5 markers, respectively. False-positive rates for FVM and HHT1 were 3/9 and 2/9, respectively. In both AD diseases investigated, quantitative DNA pooling detected shifts in allele frequency, thus identifying areas of known linkage in most cases. The utility of this technique depends on the size of the pedigree, frequency of the disease-associated allele in the population, and the choice of appropriate controls. Although the false-positive rate appears to be high, this approach still serves to reduce the amount of overall genotyping by about 60%. DNA pooling merits further investigation as a potential strategy in increasing the efficiency of genomic linkage scans.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42260/1/439-102-2-207_81020207.pd