Xlv.—large Spored Ringworm Infection

Engman, Martin F.

doi:10.1001/archderm.1926.02370150054006

Cited by 7 publications

(1 citation statement)

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“…DC is a rare inherited condition recognized by the classical diagnostic triad of reticular pigmentation of the skin, nail dystrophy, and mucosal leukoplakia [1][2][3]. Other symptoms include combined immunodeficiency, epiphora (continuous lacrimation), osteoporosis, periodontitis, short delicate stature, hair loss and premature graying, underdeveloped testes, pulmonary fibrosis, liver cirrhosis, strictures of the esophagus, and mental retardation [4][5][6][7][8] see also [9,10] and Table 1.…”

Section: The Clinical Presentation Of DCmentioning

confidence: 99%

Dyskeratosis Congenita - A Disease of Dysfunctional Telomere Maintenance

Mason¹,

Wilson²,

Bessler³

2005

CMM

121

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Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome associated with abnormalities of the skin, fingernails, and tongue. Other clinical manifestations may include epiphora, lung fibrosis, liver cirrhosis, osteoporosis, and a predisposition to develop a variety of malignancies. The clinical picture often resembles that of a premature aging syndrome and tissues affected are those with a high cell turnover. DC has been linked to mutations in at least four distinct genes, three of which have been identified. The product of these genes, dyskerin, the telomerase RNA (TERC), and the catalytic unit of telomerase (TERT) are part of a ribonucleoprotein complex, the telomerase enzyme, that is essential for the elongation and maintenance of chromosome ends or telomeres. All patients with DC have excessively short telomeres, indicating that the underlying defect in these individuals is an inability to maintain the telomeres. The purpose of the current review is to highlight recent insights into the molecular pathogenesis of DC. We discuss the impact these findings have on our current understanding of telomere function and maintenance, and on the diagnosis, management, and treatment of patients with conditions caused by dysfunctional telomeres.

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Section: The Clinical Presentation Of DCmentioning

confidence: 99%

Dyskeratosis Congenita - A Disease of Dysfunctional Telomere Maintenance

Mason¹,

Wilson²,

Bessler³

2005

CMM

121

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Facts and Fallacies Concerning Foreign Protein and Vaccine Therapy

Irons¹

1931

JAMA

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Methods of treatment of disease, like styles and fabrics of dress, change from year to year and decade to decade and in both, even a brief historical review will demonstrate a continued repetition of older practices somewhat modified to meet new conditions and modes. In matters of dress, which vary from long to short and back again, the original object of clothing to protect the body from cold and injury seems at times to be lost sight of and in medicine newly observed or striking effects lead to the revival or popularization of remedies without due regard to ultimate results, on the assumption that these effects are necessarily beneficial to the patient. The occurrence of the changes is evident; their value to the patient requires careful consideration. The ease of use of the hypodermic needle which makes possible the parenteral introduction of proteins into the body has led to widespread and often uncritical use of this method in the treatment of all manner of conditions and to the drawing of clinical conclusions often without consideration of the natural history of the diseases treated.

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