Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease with variable expression and incomplete penetrance, characterized by mucocutaneous pigmentation and hamartomatous polyposis. Patients with PJS have increased frequency of gastrointestinal and extraintestinal malignancies (ovaries, testes, and breast). In order to map the locus (or loci) associated with PJS, we performed a genomewide linkage analysis, using DNA polymorphisms in six families (two from Spain, two from India, one from the United States, and one from Portugal) comprising a total of 93 individuals, including 39 affected and 48 unaffected individuals and 6 individuals with unknown status. During this study, localization of a PJS gene to 19p13.3 (around marker D19S886) had been reported elsewhere. For our families, marker D19S886 yielded a maximum LOD score of 4.74 at a recombination fraction (theta) of .045; multipoint linkage analysis resulted in a LOD score of 7.51 for the interval between D19S886 and 19 pter. However, markers on 19q13.4 also showed significant evidence for linkage. For example, D19S880 resulted in a maximum LOD score of 3.8 at theta = .13. Most of this positive linkage was contributed by a single family, PJS07. These results confirm the mapping of a common PJS locus on 19p13.3 but also suggest the existence, in a minority of families, of a potential second PJS locus, on 19q13.4. Positional cloning and characterization of the PJS mutations will clarify the genetics of the syndrome and the implication of the gene(s) in the predisposition to neoplasias.

Laparoscopic appendectomy: comparison with open appendectomy in 720 patients.

We conducted a review of laparoscopic appendectomies (LA) and open appendectomies (OA) over a 3-year period, including 720 patients (253 LA, 467 OA) who underwent appendectomy during the study period. Computer records were reviewed with respect to demographics, length of stay, operating room time, operating room cost, hospital cost, and morbidity. All patients were sent surveys to assess their posthospitalization recovery. The LA patients had significant shorter hospital stays (2.06 days vs. 3.44 days, p < .001), lower morbidity rates (5 vs 14%, p < .02), and comparable overall hospital costs ($4,800 vs. $4,950). The LA patients also reported less postoperative pain and were able to return to work sooner. Our results show that LA can significantly decrease morbidity and hospital stay with a comparable hospital cost and result in quicker patient recovery.

Laparoscopic Nissen fundoplication: cost, morbidity, and outcome compared with open surgery.

We report a retrospective review of all patients undergoing both open and laparoscopic Nissen fundoplication from January 1990 through December 1993. Computer data were reviewed to determine the length of hospital stay, hospital costs, and perioperative complications. Questionnaires were sent to patients undergoing Nissen fundoplication. During the study period, 232 patients underwent Nissen fundoplication, and 72 patients underwent laparoscopic Nissen fundoplication. The open group had an average hospital stay of 6.1 days, the laparoscopy group, 1.5 days (p < < 0.001). Total hospital costs for the open group averaged $8,616 versus $4,331 for the group that underwent laparoscopic procedure (p < 0.001). Operating room time averaged 10 min longer for the laparoscopic procedure (p value, nonsignificant). In-hospital morbidity was significantly greater for the open group. In follow-up questionnaires, the laparoscopy group experienced an earlier return to "general health" (p < 0.005) and an earlier return to work.

Developments in total quality management in the United States: the Intermountain Health Care perspective.

In summary our purpose has been to evaluate quality in the following terms. Best process of care--narrowing the variation of care decisions, working towards the best method. Best clinical outcome--decreased morbidity ond mortality. Best patient satisfaction--both for clinical outcome and the process of care. Best value--best value at the lowest cost. At Intermountain Health Care we believe that the best way to achieve the best quality improvement in a health care system is to involve all of the participants--patients, providers, and systems--in employing the principles of total quality management. Patient involvement--in prevention; participating in best care process through education and utilisation; in evaluating functional status before, during, and after intervention; in satisfaction; in clinical outcome and follow up with providers. Provider involvement--in planning, implementing, analysing, and educating; in defining guidelines; in reassessing and defining guidelines; in reassessing and continually modifying the care map, always striving for "best care." System involvement--in providing structure and mechanisms, support staff, and information systems and being willing to focus on quality as a part of its mission. An American philosopher, George Santayana, once said: "What we call the contagious force of an idea is really the force of the people who have embraced it." It will be up to all of us collectively to become the force behind moving quality management principles into the forefront of patient care methodology and ensuring that quality remains as the guiding principle of health care delivery in the future.

Biochemical parameters which may be useful in improving organ viability after storage.

Biochemical methods that accurately detect ischemic damage in livers stored by flush cooling would be useful in the efficient development of new storage solutions. This study compares UW and Collins' solutions to evaluate those biochemical parameters which may be useful in assessing the reversibility of ischemic damage and the efficiency of organ storage solutions. Livers stored in UW solution showed higher levels of adenine nucleotides at all storage times studied. This increase in adenine nucleotides averaged 29% and was statistically significant. There was also a significant increase in the NAD levels in organs stored in UW solutions; however, the ATP levels were not significantly different after storage in either solution. Storage of livers in UW solution also decreased the amount of DNA damage which occurs with storage as compared to storage in Collins' solution, becoming statistically significant after 48 hr of storage. This suggests that these biochemical parameters may be useful in designing improved storage solutions since they reflect the extent of ischemic damage to the organ and can be determined on a small section of liver taken by biopsy.

Peutz-Jeghers syndrome: experience with twenty patients in five generations.

Peutz-Jeghers syndrome is a familial disease characterized by spots on the lips and intestinal polyposis. A review of the history and the anatomic features of the disease are presented. One of us (AJM) has the largest personal series in the literature with twenty patients in five generations. Pedigree charts and aspects relating to the development and interrelationships of spots and polyps are explained. A previously unreported instance of colon intussusception is presented along with a discussion of the clinical presentation and the malignant potential.