A questionnaire study for 128 patients with Gaucher disease.

Gaucher disease is an uncommon autosomal recessive disorder characterized by lysosomal storage of glucosyl ceramide, a material released during cell degradation. Patients with Gaucher disease often have significant hematologic, bone structural, and visceral problems which sometimes greatly affect their health and life style. Based on some extraordinary scientific discoveries over the past 45 years, a treatment system has evolved which consists of administration of an enzyme, which destroys the lysosome-stored material and to some extent restores the patients to good health. There are still some problems for these patients; however, and the purpose of the study is to define some of the clinical, sociologic, and psychologic problems with a specially designed questionnaire. Questionnaire data was collected for 128 patients from two institutions with complete anonymity, and the information compared against data from a National Health Interview Survey. The results show that many of the patients still have fairly extensive problems, which could possibly be helped by some alterations in treatment protocols.

Quality of life assessment in adults with type 1 Gaucher disease.

The effect of enzyme replacement therapy on health-related quality of life in 25 adults with type 1 Gaucher disease was investigated over a 2-year period. Quality of life was assessed using the SF-36 Health Survey (SF-36). Psychological functioning was assessed using the Symptom Checklist--90R. The results indicated significant improvement in 7 of 8 SF scale scores beginning at 18 months of therapy (P < 0.05 to 0.001). The SF scale showing improvement first was Vitality (energy level and fatigue) at 6 months of therapy (P < 0.01). The SF-36 scales showing the largest improvements were Role-Physical and Social Functioning (P < 0.001). Compared to the general US adult population, the study population's health profile was significantly lower prior to starting therapy but by 24 months of therapy there were no differences between the two. No differences were found in psychological functioning compared to a US adult normative group at the start of therapy. However, within the study population there was significant improvement in mood and global functioning and fewer psychological symptoms reported at 24 months of therapy. The findings indicate that enzyme replacement therapy for type 1 Gaucher disease has a positive impact on health-related quality of life from the patient's perspective.

Factors perceived to influence parental decision-making regarding presymptomatic testing of children at risk for treatable adult-onset genetic disorders.

The purpose of this study was to identify those critical factors that genetic nurse experts perceived could influence parental decision-making to seek or to reject presymptomatic testing of their children at risk for treatable adult-onset genetic disorders (neurofibromatosis 2, familial adenomatous polyposis, and von Hippel Lindeau disorder). Perceptions of ISONG genetic nurse specialists were surveyed through a modified Delphi technique and four major themes emerged: personal experience with severity of genetic disorder, receiving accurate information from credible sources, availability of quality treatment, and risk perception. Currently, there is a paucity of extant research that identifies critical factors influencing parental decision-making about this relatively new testing alternative for children. Thus, these experts are an important source of valuable information needed to identify such factors. Findings may be useful to design a qualitative study with parents to investigate this issue.

Presymptomatic and predisposition genetic testing: ethical and social considerations.

OBJECTIVE: To provide an overview of the ethical and social concerns that are raised by the use of new genetic tests in asymptomatic persons. DATA SOURCES: Review articles, research studies and legislation related to genetic testing. CONCLUSIONS: Predisposition and presymptomatic testing is possible to any age for adult onset disorders if a mutation is known. Testing without early effective interventions is controversial, especially prenatally and in children. Issues of privacy, discrimination, stigmatization and emotional stress are potential problems. Informed consent is essential before deciding to test. Awareness of the implications of testing can enhance the nurse's advocacy role. IMPLICATIONS FOR NURSING PRACTICE: More studies are necessary to identify the impact of presymptomatic testing on adults and children. Nursing research to identify the family concerns, and to develop effective educational, counseling, and supportive interventions would make a valuable contribution.

Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.

Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). The founder haplotype associated with > 90% of cases generalized dystonia in the Ashkenazi Jewish population could not be constructed from any of the twenty chromosomes. Potential haplotypes were determined, and no common haplotype was discerned in these patients. These findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group. Further, if the DYT1 gene is involved in these later onset dystonias, there is no evidence for a common mutation in the Ashkenazic Jewish population. It appears that excessive, repetitive use, possibly in combination with ulnar neuropathy, may serve as the inciting cause of some focal dystonias.

DDAVP reduces bleeding during continued hirudin administration in the rabbit.

Hirudin is a potent thrombin inhibitor derived from the leech Hirudo medicinalis salivary gland which has considerable potential for therapeutic use in thrombotic disease. The major risk attendant its use is hemorrhage. This study investigates the hypothesis that the prohemostatic effects of DDAVP infusion can curtail the hemorrhagic effect induced by ongoing hirudin administration. In a randomized and blinded manner, rabbits were exposed to a 15-min intravenous infusion of DDAVP or saline midway through a continuous two-h intravenous infusion of hirudin. Bleeding time was monitored by full thickness ear punctures performed before, during and after hirudin exposure. Hirudin induced a significant hemorrhagic state, manifest as a 7-10-fold prolongation of the primary bleeding time. DDAVP reduced the mean duration of primary bleeding from 10.8 min to 5.9 min (p = 0.001) as well as the number of sites which bled for longer than 6 or 20 min (46% vs 27%, p = 0.002; and 18% vs 5%, p = 0.002, respectively). Although there was no difference in the incidence of spontaneous rebleeding from these sites (44 vs 36%, p = 0.21), rebleeding did not persist as long in animals that received DDAVP (8 vs 16 min, p = 0.005), and fewer sites rebled for longer than 20 min (8 vs 27%, p = 0.027). Results were essentially the same for two different commercial recombinant hirudin preparations. DDAVP appears to attenuate the bleeding caused by continuous hirudin infusion in rabbits and establishes a foundation for clinical assessment in patients.