Familial erythromelanosis follicularis faciei et colli—an autosomal recessive mode of inheritance

Two cases of erythromelanosis follicularis faciei et colli in one family, affecting a brother and sister are described. In these cases erythromelanosis follicularis faciei et colli, a process of unknown aetiology, seems to have a clear hereditary component—autosomal recessive mode of inheritance—a feature which, as far as we know, has not been reported in the literature.     

Massive ovarian oedema

Eighteen cases of massive ovarian oedema are presented. The age of patients averaged 26 years and 16 presented with an acute abdomen. Hormonal symptoms included virilism in three cases and one with precocious pseudopuberty. Ultrasonographic findings were variable and not diagnostically accurate. When performed, CA 125 levels were not raised. Seventy-two percent of cases occurred in the right ovary and none were bilateral. Torsion occurred in 14 cases. Salpingo-oophorectomy was performed in all cases.
To elucidate its pathogenesis, be this either due to intermittent chronic torsion or to a proliferative phenomenon, immunohistochemistry for Ki-67 and PCNA proliferation antigens, alpha-actin and oestrogen and progesterone receptors was performed. The Ki-67 proliferation index ranged between 0% and 3%, demonstrating the low proliferative status of stromal cells. The PCNA indices, however, were unusually high (60% and above). The divergence between these findings is explained by the fact that PCNA positivity may be related to nuclear reparation subsequent to ischaemia. Alpha-actin was consistently positive in stromal cells, reflecting a myofibroblastic transformation of these cells. These findings together with the clinical evidence of torsion in the majority of cases, lead us to consider that ovarian oedema is a reactive, non-proliferative state of specific stromal cells, occurring as a response to torsion and subsequent ischaemia. The stromal cells have positive oestrogen and progesterone receptors and may undergo stimulatory changes responsible for the hormonally related symptoms often found associated with massive ovarian oedema.     

Transforming genes of human hematopoietic tumors: frequent detection of ras-related oncogenes whose activation appears to be independent of tumor phenotype.

We surveyed 22 human hematopoietic tumors and tumor cell lines for sequences capable of transforming NIH 3T3 cells by DNA transfection. A primary human acute myelogenous leukemia, a chronic myelogenous leukemia cell line, and cell lines derived from three independent acute lymphocytic leukemias demonstrated oncogenes capable of conferring the transformed phenotype to NIH 3T3 cells through serial cycles of transfection. One of three transforming genes associated with acute lymphocytic leukemia cells (classified as thymocyte developmental stage II) was identified as the activated cellular homologue of the Kirsten murine sarcoma virus onc gene, kis, a member of the ras family of onc genes. A transforming gene, which was demonstrated to be common to several human myeloid and lymphoid tumor cells, was shown to be a distantly related member of the ras gene family. Thus, the NIH 3T3 transfection assay commonly detects related oncogenes in human hematopoietic tumor cells. Moreover, the activation of these oncogenes appears to be independent of the specific stage of cell differentiation or tumor phenotype.     

Demonstration of two immunologically distinct xenotropic type C RNA viruses of mouse cells

Several independent type C virus isolates were obtained by transplantation of human tumor cell lines into immunosuppressed NIH Swiss mice. Each isolate appeared to be of mouse origin as determined by the antigenicity of its major virion polypeptide, p30. The virus isolates were indistinguishable from each other in serologic and host range properties and also closely resembled BALB:virus-2, one endogenous virus of $\text{BALB}\text{c}$ mouse cells. However, in immunoassays for a highly type-specific virion polypeptide, designated p12, every isolate was found to differ from BALB: virus-2. These results provide evidence for the existence of immunologically distinct xenotropic viruses of mouse cells.     

Dexamethasone induces a heat-stress response that ameliorates the conformational consequences on antithrombin of l-asparaginase treatment

Summary.  Background:   l -asparaginase ( l -ASP) treatment of patients with acute lymphoblastic leukemia causes a severe antithrombin deficiency by intracellular retention of this serpin within the endoplasmic reticulum (ER) of hepatic cells, and a subsequent risk of thrombosis. Interestingly, co-administration of dexamethasone with l -ASP seems to reduce the risk of thrombosis. Objectives: We have investigated the effect of two corticoids, dexamethasone and prednisone, on the conformational consequences of l -ASP treatment on antithrombin. Patients/methods : Levels, activity, conformation and immunohistological features of antithrombin were studied in patients, cell and mice models. Because of the importance of the steroid receptor-heat stress response (HSR) axis, and the role of unfolded protein response (UPR) in conformational diseases, we also evaluated Hsp27, Hsp70, Hsp90, HSF-1 and ER chaperons (Grp78 and Grp94). Results: In all models, l -ASP alone or in combination with prednisone caused the intracellular retention of antithrombin associated with a severe deficiency. In contrast, the combination of l -ASP with dexamethasone ameliorated both the deficiency and intracellular retention of the serpin, which is associated with increased expression of heat shock proteins and ER-chaperons. Conclusions: These results suggest a protective effect of dexamethasone on the conformational consequences of l -ASP on antithrombin as a result of exacerbated HSR and UPR that help to explain the reduced risk of thrombosis reported in patients that follow this scheme of treatment.     

Infants' moods and the chronicity of depressive symptoms: the unique creative process of being together for good or ill. Part 2: The formation of negative moods in infants and children of depressed mothers

In this second paper I present data on the effects of maternal depression on infant mood. Maternal depression is relatively stable and the infant continuously faces an affective climate characterized by negative affects. These negative affects disrupt the interactive experience of the infant and the mother. Positive affective matching is limited and reparation of mismatching states is infrequent. As a consequence infants develop a negative mood that biases their interactions with others and further exacerbates their affective problems.     

The neurobehavioral organization of Efe (pygmy) infants.

The neurobehavioral organization of 16 Efe Mbuti (pygmy) infants was examined over the first weeks of life using the Brazelton Neonatal Behavioral Assessment Scale. Mbuti infants are the smallest well-grown, full-term infants in the world, i.e., length and weight below the 10th percentile but ponderal index above the 50th percentile. The Efe infants are a relatively isolated population that allows for an evaluation of ethnic differences in newborn behavior; their small stature permits the examination of the relations among size, neurobehavioral organization, and morbid processes. The neurobehavioral organization of the Efe was compared with three groups of full-term infants: two full-statured, well-grown groups of infants, one African, one United States; and a group of symmetrically growth-retarded infants whose weight and length were proportionally compromised in utero. The behavioral organization of the Efe infants was found to be similar to the neurobehavior of the well-grown infants and superior to the group of growth-retarded infants. No unique neurobehavioral features were found compared with the other groups. These findings suggest that neurobehavioral organization has a universal form and that expected small size per se does not compromise infant behavior.     

Isolation and characterization of C-type viral gene products of virus-negative mouse cells

Antigens which immunologically cross-react with two mouse C-type viral polypeptides, p30 and p12, are present at very low levels in normal virus-negative mouse cells. These two antigens have been purified by 50–300-fold from cell extracts and shown to cochromatograph with the corresponding labeled viral polypeptides in several systems. Their type-specific antigenicities are shown to be distinct from those of previously tested MuLV isolates suggesting that they may be components of a new class of endogenous C-type virus. The methods utilized in the present studies for concentration of virus-specific antigens of normal mouse cells provide an approach for detection of C-type viral antigens in cells of other species.