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J Lachman

Publications and source records attributed to J Lachman.

5 recordsLinked to original sources

[Advances in hereditary hemochromatosis].

Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function: cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.

Genetic Testing↗

[Five cases of pharyngeal tuberculosis seen over a period of one year (author's transl)].

The authors report five cases of pharyngeal tuberculosis seen over a period of one year and which were all, with one exception, surprise histological findings. Such histological findings were not always completely specific and the diagnosis was confirmed by a strongly positive tuberculin skin reaction, pulmonary disease and, above all, the elimination of symptoms and physical signs in less than 3 weeks under the influence of specific antituberculous therapy.

Adult↗