Hemihyperplasia: History of medicine assists medical genetics.

This paper examines the role of the history of medicine in case of congenital isolated hemihyperplasia. Isolated hemihyperplasia is a genetic disorder in which one side of the body grows more than the other, causing visible lateral asymmetry of the human body. The date of the occurrence of the genetic mutation that leads to hemihyperplasia is not known yet. The aim of the current research was to confirm or to disprove the fact that isolated hemihyperplasia was first described in the first half of the 19th century. Using the case of hemihyperplasia we aimed to demonstrate how historical analysis may assist medical genetics in cases when estimating a mutation date is necessary. Medical literature from 1573 onwards was searched for any mention of hemihypertrophy, hemihyperplasia, hemi-gigantism, partial gigantism, hemi-macrosomia and other possible descriptions for pathological lateral body overgrowth. Historical analysis suggests that the mutation in question occurred in the first half of the 19th century, approximately 200 years ago. This led to the appearance of hemihyperplasia and subsequent hemihyperplasia-including syndromes. An additional genetic research is needed for investigation of the development of the involved chromosomal region instability since this period. Such research may use the timeline orientation provided by the history of medicine.

[A new approach to the identification and the interpretation of the various forms of cribra orbitalia]. / Pour une nouvelle approche de l'identification et de i'interprétation des diverses formes de cribra orbitalia.

The so-called cribra orbitalia lesion was described for the first time in 1885 by H. Welcker. Since then the cribriform tectum of the orbit has provoked the most varied pathogenic interpretations. However for 40 years the whole paleopathologist community agreed to recognize that anaemia and generally deficiency in iron, food or infections were the causes of medullary hyperplasia which would be the alone responsible for the damage. Through new macroscopic explorations and new understanding of the genesis of the lesion, the author does not admit the principle of an universal hyperplasia but he suggests to distinguish three causes ofcribra orbitalia: the anatomic variations, the osteoperiostitis, the cortical erosion.

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962.

A new syndrome, characterized by hypertrophy and hyperplasia of the juxtaglomerular apparatus of the kidneys, aldosteronism resulting from adrenal cortical hyperplasia, and persistently normal blood pressure is described in two patients. Overproduction of aldosterone could not be prevented by sodium loading or by administration of albumin intravenously; it was associated with hypokalemic alkalosis and Pitressin-resistant impairment of urinary concentrating ability. In both subjects, increased amounts of circulating angiotensin were demonstrated; infusion of angiotensin II produced rises of blood pressure in both subjects considerably less than the rises induced by comparable doses in normal subjects. The sequence of events, (1) primary resistance to the pressor action of angiotensin, (2) compensatory overproduction of renin and thus of angiotensin, and (3) stimulation of adrenal cortex by angiotensin is consistent with all the information available about the syndrome.