Abnormal chromosomal marker (D14 q+) in a patient with alpha heavy chain disease.

A patient with alpha heavy chain disease (alphaHCD), who showed an abnormal chromosomal marker (D14 q+) in 10% of the bone marrow cells, is described. The mesenteric lymph nodes, which showed reactive hyperplasia in the first biopsy, transformed later to a malignant lymphoma and finally to a plasma cell tumour. The small intestine revealed villous atrophy, diminished crypts, and intact surface epithelium. The ultrastructure of the goblet and epithelial cells appeared to be normal, and the microvilli were preserved except for circumscribed areas of destruction. The lamina propria was heavily infiltrated with mononuclear cells, mainly mature plasma cells. Alpha heavy chains (alphaHC) were found in the patient's saliva.

Human chromosome polymorphism and congenital malformations.

Several authors have suggested that heterochromatin polymorphism influences the origin and/or development of different malformations. In this investigation special consideration was given to the A1qh + variant. Several families with this variant are reported in which the incidence of otherwise rare malformations is surprisingly high. The possibility that the A1qh+ varient or, more probably, interactions between all types of heterochromatin polymorphism are of pathogenetic significance is considered.

[Activity of serum leucine aminopeptidase lamp in normal and pathologic pregnancies]. / L'activité de la leucine aminopeptidase sérique (LAmP) dans les grossesses normales et pathologiques

The activity of the enzyme leucine aminopeptidase (LAmP) in serum was examined in 305 pregnant women (174 women with normal pregnancy, and 131 women with disturbed pregnancy). The activity of this enzyme increases during the normal development of pregnancy. In disturbed pregnancies, the LAmP activity is lower as compared to normal pregnancies. A peculiar case: toxemia of pregnancy, where the activity of the enzyme is considerably increased. This fact may be compared with the increase of LAmP activity in cases of liver damage. The LAmP activity test in pregnancy is reliable and can be performed practically in every laboratory, thus deserving its place among the many tests meant to assess the normal function of the foeto-placental unit. This test may also help in the diagnostic of some specific pregnancies such as twin pregnancy, hydatidiform mole and extra-uterine pregnancy.

Incontinentia pigmenti.

Four new cases of incontinentia pigmenti are presented, including chromosome studies of one family. An increased number of chromosome breakages was found in the blood of affected as well as unaffected members of this family.