Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

We report on a 4-year-old male with an interstitial tandem duplication of Xq21.1-q21.31 who presented with clinical features of Prader-Willi syndrome (PWS). The duplication was maternally inherited. Abnormalities of the X chromosome have previously been reported in association with a PWS phenotype, but to date, specific duplications of Xq21.1-q21.31 have not. We refined the chromosomal breakpoints seen on initial G-banded karyotyping in our case with comparative genomic hybridization by microarray (array CGH). The duplication was between 11.1 and 14.4 Mb in length and overlaps with three loci to which mental retardation with PWS-like features have been previously mapped, showing the utility of array CGH in helping to identify candidate genes. We conclude that duplication of chromosomal region Xq21.1-q21.31 potentially results in a PWS-like phenotype. Reviewing the literature on similar duplications, we further conclude that distal Xq duplications can result in features typically seen in infants with PWS, while proximal duplications can result in features typically seen in older children and adults with PWS. Duplications of chromosome Xq should be considered in the differential diagnosis of PWS, especially in males.

The changing role of pharmacy practice--a clinical perspective.

Professor Carmichael and Dr. Cichowlas argue for the reexamination of the pharmacist's role in the current health care system. Reexamination is necessitated due to changing complexities of the health care system as evidenced by increased economic demands and pharmaceutical surpluses. The authors advocate for Collaborative Drug Therapy Management, in which physicians and pharmacists maximize patient care by pooling their areas of expertise together.

Effect of clinical pharmacy input on physician prescribing habits in the nursing home care unit.

The goal of this study was to evaluate any changes in medication use in our 60-bed nursing home care unit as a result of eliminating clinical pharmacy services during a 2-week period. Information was obtained on patient medications and number of doses dispensed. All patients were found to have a 6% increase in average number of scheduled medications, a 3% increase in average total medications, and an increase in scheduled doses dispensed by 10% during the absence of clinical pharmacy services. These numbers declined by 16, 18, and 9%, respectively, 2 weeks after the return of clinical pharmacy services. When evaluating only those 37 patients present the entire 4 week period, average scheduled medications rose 5% and total medications rose 4% during the absence of clinical pharmacy services and declined 13 and 17%, respectively, upon return of services. Eleven patients showed an increase in total number of medications during the absence of clinical pharmacy services whereas 21 patients showed a decline in medications after the return of clinical pharmacy services (P less than 0.001). The authors conclude that clinical pharmacy services must be provided on a continuous basis to maintain good physician prescribing habits in the nursing home care unit.

Evaluation of allopurinol use in patients with gout.

The use of long-term allopurinol therapy in patients with gout was evaluated. A pharmacy computer printout was used to identify all outpatients for whom allopurinol had been prescribed during a six-month period in 1985 at a large Veterans Administration medical center. Medical records were reviewed to (1) classify patients as either having or not having definite indications for allopurinol treatment, (2) determine whether physicians had ordered roentgenographic and laboratory tests for presence of monosodium urate crystals, uric acid excretion, and renal function, and (3) identify gout-associated risk factors and disease entities that could cause hyperuricemia. A pharmacy record of all allopurinol and probenecid prescriptions for the six-month period was obtained, along with cost data. Of the 286 patients who received allopurinol, 32 received the drug for an indication that could not definitely be established as gout. Of the 254 remaining patients, only 45 (17.7%) had a definite indication for allopurinol use as defined by the pharmacy and therapeutics committee. Although pretreatment measurement of serum creatinine was common, only a few patients underwent joint aspiration, a 24-hour urine collection, or roentgenography of affected joints. Large proportions of the patients were found to have gout-associated risk factors. If the 209 patients without definite indications for allopurinol therapy had been treated with probenecid instead of allopurinol, the annual cost savings would have been about $3700. Most of the patients receiving allopurinol for gout could reasonably have been treated with a uricosuric agent such as probenecid at a lower cost. Generally, physicians did not use diagnostic tests optimally before prescribing allopurinol and did not attempt to modify risk factors for gout.

Survey of ulcer-recurrence risk factors associated with long-term cimetidine prescribing.

The appropriateness of long-term cimetidine prescribing was evaluated retrospectively in 243 outpatients. Criteria defining appropriate indications for the use of cimetidine for longer than eight weeks were established. Of the 243 patients surveyed, 115 (47 percent) were considered to be inappropriately receiving long-term cimetidine, either because they had never been objectively studied radiographically or endoscopically (23 percent) or had negative results before initiation of therapy (24 percent). Risk factors known to be associated with recurrent peptic ulcer disease were reviewed. Patients fulfilling criteria for appropriate long-term cimetidine usage had a greater prevalence of risk factors compared to the nonjustifiable group. Of particular interest, individuals considered appropriate for long-term therapy were very likely to have had a gastrointestinal bleeding episode prior to beginning therapy (52 percent for gastric ulcer, 8 percent for the nonjustifiable group). This increased prevalence of gastrointestinal hemorrhage may be due to the inherent nature of peptic ulcer disease or a result of physicians selecting affected individuals who may benefit from long-term treatment. Eliminating inappropriate usage of long-term cimetidine in conjunction with a thorough evaluation of risk factors for recurrent ulcer disease can be useful in selecting those individuals most likely to benefit from long-term cimetidine therapy.

Rational approach to long-term use of H2-antagonists.

Although the approved indications for long-term histamine (H2) receptor-antagonists are limited to the management of hypersecretory states and prophylaxis against recurrent duodenal ulcer, these agents are often prescribed indiscriminately. Definitive guidelines concerning proper patient selection for prophylaxis against duodenal ulcer recurrence are lacking. Persons likely to benefit from maintenance therapy include those who smoke and those with a long duration of symptoms or prior history of an ulcer complication. Although not an approved indication, maintenance therapy to prevent recurrent gastric ulcer is appropriate for elderly persons receiving nonsteroidal anti-inflammatory drugs or in patients with poor cardiopulmonary status who may not tolerate surgery for an ulcer-related complication. The role of long-term H2-antagonist therapy in reflux esophagitis is not defined but may be appropriate in scleroderma and Barrett's esophagus. Finally, several miscellaneous conditions, including cystic fibrosis, Menetrier's disease, and pancreatic exocrine insufficiency, may benefit from long-term H2-antagonist therapy. Currently, clinical trials document the efficacy of maintenance therapy in duodenal ulcer for up to a three-year period; however, for gastric ulcer and chronic reflux esophagitis, the duration and benefit of long-term therapy is not established, and treatment regimens need to be individualized. Therapy may be required indefinitely in the miscellaneous states mentioned previously.

New perspectives on glaucoma screening.

Glaucoma is defined as elevated intraocular pressure resulting in visual field defects. Elevated intraocular pressure without visual field defects is referred to as ocular hypertension. The prevalence of open-angle glaucoma in the population above the age of 40 years is less than one percent. Approximately one out of ten people with elevated ocular pressure has glaucoma. The concept of variable sensitivity explains why high ocular pressures do not always result in glaucoma. Glaucoma screening by tonometry can be justified only if used in conjunction with visual field testing.

Emergency-room services for a community health center.

The development and maintenance of an organized system of emergency care in isolated ambulatory health-care centers are described. A system of three community health centers, staffed chiefly by midlevel practitioners (i.e., physician's associates and nurse practitioners), had a need to provide occasional emergency care to patients. Emergency care needed to be provided (for up to one hour) until an ambulance arrived to transport the patient to a hospital. A system of emergency care, consisting of treatment protocols, a drug manual, equipment and medications, and a program for periodic inservice education was developed by physicians, midlevel practitioners, and pharmacists. Weekly checks of the supplies and medications are conducted. Lists of supplies and medications stocked, and a sample drug monograph, are included in the paper. The program has resulted in more efficient emergency care, including less confusion in executing and documenting treatment.