Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

The recent identification of the NF2 tumour suppressor genehas enabled large scale screening for pathological mutationsin the gene. We have sought germline mutations In the NF2 geneby SSCP and heteroduplex analysis of cDNA and genomic DNA samplesfollowed by cloning and sequencing of mutant alleles. In thepresent report we describe 11 putative pathological mutations,including five nonsense mutations, three short insertions ordeletions cauing frameshifts and three missense mutations. Moststop mutations and frameshift mutations were found In Individualsexpressing a severe phenotype while one of the three missensemutations was associated with a mild phenotype. Four unrelatedNF2 patients of the 93 tested were found to have identical nonsensemutations caused by a C to T transition (C169) in a CpG dinucleotide,which is a potential mutational hotspot in the NF2 tumour suppressorgene.     

METHODS OF FETAL HEART RATE MONITORING DURING LABOR

A review of the history of fetal heart rate monitoring is followed by detailed analysis of eight randomized, controlled trials and of a recent prospective study of electronic fetal monitoring compared with intermittent auscultation. No significant differences between the methods were reported in perinatal mortality rates, neonatal infection rates, and Apgar scores. Mixed results were reported for length of labor, maternal analgesic use during labor, maternal genital tract infection rates, umbilical cord pH values, and admissions to neonatal intensive care units. Auscultation was associated in two trials with a significantly increased rate of neonatal seizures. Electronic fetal monitoring was correlated with a significantly increased cesarean delivery rate in the first four trials, and with a significantly increased rate of operative delivery (forceps plus cesarean delivery) in three later trials. A decision tree is presented to assist the clinician in selecting the appropriate fetal monitoring method for a given client.     

Pregnant dreaming: Search for a typology of a proposed dream genre

Dreams during pregnancy were collected from post-partum women on the maternity ward of an Israeli hospital. Our data indicate that primipara women and women with complicated obstetrical histories were more likely to report increased dreaming during pregnancy. The collected dream corpus suggests that dreams during pregnancy can be viewed as a distinct dream genre. This paper develops a tentative typology of that genre. In addition, the authors argue that the context of disclosure was highly relevant to the sorts of manifest contents that were reported.     

Anesthesia and/or Sedation for Pulsed Dye Laser Therapy

One of the most exciting developments in pediatric dermatology has been the use of the flashlamp-pumped, 585-nm, pulsed dye laser for treatment of vascular birthmarks. In many cases the results are miraculous. The increase in self-esteem and happiness of many children and adolescents has been overwhelming; for some, depression has been lifted, stuttering has ceased, social involvement has increased, and antidepressants have been discontinued. There are many success stories to tell.
Despite the remarkable effects of the pulsed dye laser and the medical and psychosocial indications for its use, the issue of pain control remains significant. We have no perfect outpatient pediatric anesthetic. Most methods carry either some risk or, if not hazardous, often are not very effective for controlling pain. Needless to say, a diversity of opinions exist on how to manage discomfort from this treatment modality. Therefore, we thought it would be useful to share the experiences and opinions of several dermatologists who have extensive experience with the pulsed dye laser.     

Improving recovery following cardiac surgery: a randomized clinical trial*

To enhance individual and family health during recovery from heart surgery, this study employed nursing interventions based on self-efficacy and family stress theory during the hospitalization period and for 3 months thereafter. The effectiveness of the interventions were assessed through a randomized trial in which 67 prospective bypass and valve surgery patients, aged 30-77 years, and their spouses, were allocated either the experimental interventions or usual care and followed for 6 months. At 3 months post-surgery, the only statistically significant differences between the experimentals and controls were on perceived self-efficacy for lifting and tolerating emotional distress. At 6 months no significant differences were found on individual or family measures. Analyses revealed that age, gender and preoperative cardiac status significantly affected individual recovery. The study is continuing with a larger sample in order to explicate the recovery process and to better determine whether a low intensity nursing intervention can effect changes in individual and family recovery.