Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by loss-of-function mutations in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome, and immunodeficiency. We report a patient with SIOD and SMARCAL1 splice mutation (IVS4-2 A>G) in a nonconsanguineous Ashkenazi family, who came to our attention at 1 mo of age due to renal malformation and only later developed signs compatible with Schimke. Interestingly, residual SMARCAL1 mRNA levels in the patient's peripheral blood were lower compared with those observed in both asymptomatic brothers' carrying the same bi-allelic mutation, whereas the latter had levels similar to those found in heterozygous carriers (parents and sister). Examination of the carrier frequency of the splice mutation in the Ashkenazi population demonstrated 1 carrier in 760 DNA samples. In situ localization of SMARCAL1 in human kidneys as well as analysis of its temporal expression during murine nephrogenesis and in the metanephric organ culture suggested a role in the early renal progenitor population and after renal maturation. Thus, disease severity within the same family might be modified by the splicing machinery. The renal expression pattern of SMARCAL1 explains a broader spectrum of renal disease in SIOD than previously described.     

Secondary traumatization among wives of Israeli POWs: the role of POWs' distress

Background The aim of the study is to examine secondary traumatization of wives of former prisoners of war (POWs) as manifested in posttraumatic stress disorder (PTSD) symptoms, additional psychiatric symptoms, and marital adjustment. In addition, it assessed the role of several contributors to the wives' secondary traumatization: the husband's PTSD, the level of his verbal and physical aggression, and the wife's level of self-disclosure. Methods The study compared three groups of Israeli wives: wives of POWs with PTSD (N=18), wives of POWs without PTSD, (N=64), and a control group of wives of veterans without PTSD (N=72). Results The highest level of distress in all measures was endorsed by the wives of POWs with PTSD. Moreover, in addition to husband's PTSD and captivity, both the man's aggression and the wife's self-disclosure played a role in the wife's level of distress. Conclusions The findings show that the husbands' PTSD was more strongly associated with the wives' secondary traumatization than their captivity.     

Adjustment profiles of Yom Kippur war veterans seeking delayed help from the IDF

Abstract

The most common stress reactions following combat are post-traumatic stress reactions. These responses have a great impact on quality-of-life and can damage victims’ personal, familial, and social functioning. However, of the people who develop PTSD, only a few request psychological help. The first aim of the research was, therefore, to examine the long-term adjustment patterns of Yom Kippur War veterans who sought help only after a period of more than 30?years. The second aim was to classify the participants according to a common symptom profile. The participant sample consisted of 195 Yom Kippur War veterans who went through a process of assessment and evaluation via intake interviews conducted between 2006 and 2012, when they came to the Combat Stress Reaction (CSR) unit. Data were collected from the participants’ files. The findings indicated that, by the time they arrived at the CSR Unit, 90.8% of the participants were experiencing PTSD. The findings support the argument that delayed onset of PTSD without a background history of symptoms is rare, and indicate that most people who seek help report that their low-level symptoms intensified over the years until these symptoms developed into clinically meaningful PTSD.     

Epidermal growth factor induces maturation of rat follicle-enclosed oocytes

Gonadotropin-induced differentiation of ovarian granulosa cells in culture is inhibited by epidermal growth factor (EGF). The present study was undertaken to test a possible inhibitory effect of EGF on LH-induced maturation of rat follicle-enclosed oocytes. We have found that EGF not only failed to affect LH action but served by itself as an inducer of maturation of follicle-enclosed oocytes. EGF action on the oocytes was dose and time dependent and could be prevented by (Bu)2 cAMP. The response of the oocytes was specific to EGF and could not be elicited by other growth factors such as nerve growth factor and insulin. The response to EGF was not limited to the large antral follicles, as oocytes enclosed by small antral follicles (less than 0.4 mm) were induced to mature by EGF as well. In addition, we have demonstrated that oocytes, induced to mature by EGF, are concomitantly uncoupled from the follicular cells. Based on these results we suggest that EGF may terminate the transfer of a follicular inhibitor to the oocyte. It is also possible, however, that EGF induces oocyte maturation by a mechanism independent of its effect on communication between the cellular components of the follicle.     

Severe pneumococcal peritonitis complicating IUD: case report and review of the literature

A case of pneumococcal peritonitis associated with an IUD is presented and four previously reported cases of pneumococcal peritonitis with IUD are reviewed. The infection may occur in previously healthy women who were fitted with an IUD, possibly by ascending infection from the genital tract via the fallopian tubes. The condition is usually accompanied by bilateral salpingitis and may be severe, with fatal outcome. We suggest that any woman over 30 using an IUD, who presents with peritonitis without obvious cause, should be given antibiotics with activity against Streptococcus pneumoniae, following removal of the IUD.