Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.

We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both X chromosomes to be morphologically normal. The mother had very high plasma CK levels, equivalent to those observed in carriers of the disease. We discuss different hypothetical mechanisms designed to account for the family pedigree.     

Ontogeny of enkephalin- and VIP-containing neurons in dissociated cultures of embryonic mouse spinal cord and dorsal root ganglia

The ontogeny of vasoactive intestinal polypeptide (VIP), and Met-enkephalin in primary cultures of spinal cord/dorsal root ganglia from 12-day mouse embryos was examined by radioimmunoassay and immunohistochemistry. Met-enkephalin levels rose from less than 5 to 700 pg/culture over 26 days and were half maximal by day 16-18 in culture. VIP levels rose from less than 1 to 30 pg/culture over the same period, but were already half maximal by day 9. Met-enkephalin immunoreactivity was localized in multipolar medium sized neurons while VIP immunoreactivity was visualized both in neurons with extensively branched processes and in bipolar cells some of which appeared to be dorsal root ganglion cells. Tetrodotoxin (TTX)-sensitive spontaneous release of both peptides developed in parallel with the ability to stimulate peptide release with elevated potassium. Factors affecting the ontogeny of neuropeptide expression in, and release from, spinal cord neurons can now be examined in vitro in a strictly defined neurochemical environment.     

Splenectomy in myeloid metaplasia

Between 1960 and 1977, 50 patients with agnogenic myeloid metaplasia were splenectomized. Twenty-five of 26 patients with painful splenomegaly, 4 of 9 patients with refractory hemolytic anemia, 4 of 10 patients with refractory thrombocytopenia, and 4 of 4 patients with portal hypertension showed significant benefit from the procedure. There were five immediate postoperative deaths. Four of these deaths occurred early in our series of splectomies for myeloid metaplasia before 1970. Only one death has occurred in the last 21 patients operated on. Survival following splenectomy averaged 25.5 mo.     

The Inside Story: A Simulation Game on Ethical, Legal, and Political Decision Making in Health Policy for Nurse Practitioners

This game can be conducted with as many as 50 and as few as 15 players. The optimum size includes 4-5 Board members and 4-6 participants in each of the four small-group scenarios. The game takes about 11/2-2 hours to play. This includes a break between Part I and Part II. Existing state and national laws and policies are used in the game so that participants may understand their effects and limitations. The game has no winners or losers. Everyone gains if the decision markers are able to consider the needs of the individuals and the needs of the public, though some individuals may or may not benefit as much as others. This, however, is reality and is inherent in the policy-making process. In primary care, nurse practitioners (NPs) have a crucial responsibility to weigh the impact of their decisions on their clients and the community. The "Inside Story" integrates recommended NP curriculum content such as ethical decision making and health policy into a creative and powerful educational experience. This simulation game could be adapted for other topics with ethical, legal, and political implications such as issues regarding allocation of scarce resources. It could be played among students or professionals from many disciplines as part of their curriculum or in a continuing education offering.     

Prospective evaluation of posttransfusion hepatitis

The incidence of posttransfusion hepatitis (PTH) was determined prospectively at our institution. An active surveillance program of transfused surgical patients was set up; alanine aminotransferase (ALT) levels were determined before transfusion and at monthly intervals for 6 months after transfusion. Patients with confirmed ALT values greater than 2.5 times the upper reference values were referred to the out-patient clinics for diagnosis. Of 4051 surgical patients who underwent transfusion between January 1986 and December 1989, 2459 (60.7%) were enrolled in the surveillance program, and 1018 (25.1%) completed the follow-up; 238 patients received autologous blood only and were used as controls. No PTH was observed in the control patients, and the incidence of the disease in patients receiving homologous blood was 10.97 percent in 1986, 6.58 percent in 1987, 5.55 percent in 1988, and 4.29 percent in 1989; the decreasing trend is significant (p = 0.018).     

Withdrawal of life-support treatment: the experience of critical care nurses

Technological advances in health care have made it possible to restore and prolong life for patients who would have died in the past. Unfortunately, one consequence of this is that some patients linger in intensive care units (ICUs), dependent on the technologies but with no hope of recovery. Therefore, decisions regarding withdrawal of life-support treatment are increasingly being faced by the health-care team.

This study aimed to explore the lived experience of critical care nurses who had cared for patients during withdrawal of life-support. The methodology employed was interpretive phenomenology. Interviews were conducted with seven critical care nurses, with the meanings of the experience of withdrawal of life-support treatment for these nurses extrapolated from the narratives and clustered into themes.

The study highlighted the importance of honest communication during the processes of decision-making and withdrawal of treatment. It was important for these nurses to be sure that family members were well-informed regarding the process of withdrawal of life-support treatment and that they could provide support and ensure that the patient's comfort and dignity were maintained during the process. The need to debrief after the event became evident but formal debriefing processes were rarely undertaken.     

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions

von Hippel-Lindau (VHL) disease arises from mutations in the VHL gene and predisposes patients to develop a variety of tumors in different organs. In the kidney, single or multiple cysts and renal cell carcinomas (RCC) may occur. Both inter- and intrafamilial heterogeneity in clinical expression are well recognized. To identify VHL-dependent genetic factors, we investigated the renal phenotype in 274 individuals from 126 unrelated VHL families in whom 92 different VHL mutations were characterized. The incidence of renal involvement was increased in families with mutations leading to truncated protein (MLTP) or large rearrangement, as compared to families with missense changes (81 vs. 63%, respectively; P=0.03). In the latter group, we identified two mutation cluster regions (MCRs) associated with a high risk of harboring renal lesions: MCR-1 (codons 74-90) and MCR-2 (codons 130-136). In addition, the incidence of RCC was higher in families with MLTP than in families with missense changes (75 vs. 57%; P=0.04). Furthermore, mutations within MCR-1 but not MCR-2 conferred genetic susceptibility to develop RCC. Overall, our data argued for a substantial contribution of the genetic change in the VHL gene to susceptibility to renal phenotype in VHL patients.