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M Kari Connolly

Publications and source records attributed to M Kari Connolly.

3 recordsLinked to original sources

Systemic and cell type-specific gene expression patterns in scleroderma skin.

We used DNA microarrays representing >12,000 human genes to characterize gene expression patterns in skin biopsies from individuals with a diagnosis of systemic sclerosis with diffuse scleroderma. We found consistent differences in the patterns of gene expression between skin biopsies from individuals with scleroderma and those from normal, unaffected individuals. The biopsies from affected individuals showed nearly indistinguishable patterns of gene expression in clinically affected and clinically unaffected tissue, even though these were clearly distinguishable from the patterns found in similar tissue from unaffected individuals. Genes characteristically expressed in endothelial cells, B lymphocytes, and fibroblasts showed differential expression between scleroderma and normal biopsies. Analysis of lymphocyte populations in scleroderma skin biopsies by immunohistochemistry suggest the B lymphocyte signature observed on our arrays is from CD20+ B cells. These results provide evidence that scleroderma has systemic manifestations that affect multiple cell types and suggests genes that could be used as potential markers for the disease.

Adult↗

Peripheral neuropathy in scleroderma.

Because patients with scleroderma report neuropathic symptoms including numbness, paresthesias, and dysesthesias, we assessed peripheral nerve function in such patients. Fourteen scleroderma patients underwent complete neurologic examination, nerve conduction studies (NCS) and quantitative sensory testing (QST). Neurologic examination revealed reduced vibration (7) or pinprick (4) sensation in the upper or lower extremities, focal atrophy or proximal weakness (2), and decreased deep tendon reflexes (2). NCS showed reduced sensory nerve action potentials (1) and carpal tunnel syndrome (1). QST of the upper and lower extremity revealed increased cold or vibration detection thresholds in 8 of 14 patients. Our findings suggest that peripheral neuropathy occurs in patients with scleroderma at a higher frequency than previously appreciated. These findings cannot be ascribed to compression neuropathies, but rather involve large and small fibers in a non-length-dependent fashion. Larger, prospective studies using the more sensitive QST as well as pathologic studies of nerve, including cutaneous innervation, are needed to further assess the characteristics and etiology of the neuropathy.

Adult↗