Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.

Primary myoclonus-dystonia is a childhood-onset autosomal-dominant movement disorder with myoclonic jerks and dystonia. The authors report 9 children (4 boys, 5 girls) with myoclonus-dystonia from 8 families seen over a 4-year period at Cleveland Clinic. The mean age of onset of symptoms was 2.8 years, but the diagnosis was made at a mean of 7.3 years. Myoclonus was the presenting symptom in 8 children. A known pathogenic mutation in the ε-sarcoglycan gene (SGCE) was identified in 4 of the 9 children, and 2 other children had novel mutations in the same gene. Good response to trihexyphenidyl and clonazepam was seen. Two patients underwent deep brain stimulation surgery of the bilateral globus pallidus pars interna. In 7 children, the diagnosis of myoclonus-dystonia was not considered by the referring child neurologists, which led to extensive investigations and a delay in the final diagnosis. In this report, the authors highlight the need for increased awareness of this entity among child neurologists.

Prescription errors and the impact of computerized prescription order entry system in a community-based hospital.

Adverse drug events occur often in hospitals. They can be prevented to a large extent by minimizing the human errors of prescription writing. To evaluate the efficacy of a computerized prescription order entry (CPOE) system with the help of ancillary support in minimizing prescription errors. Retrospective study carried out in a community-based urban teaching hospital in south Brooklyn, NY from January 2004 to January 2005. Errors were categorized into inappropriate dosage adjustment for creatinine clearance, duplication, incorrect orders, allergy verification, and incomplete orders. The pharmacists identified the type of error, the severity of error, the class of drug involved, and the department that made the error. A total of 466,311 prescriptions were entered in the period of 1 year. There were 3513 errors during this period (7.53 errors per 1000 prescriptions). More than half of these errors were made by the internal medicine specialty. In our study, 50% of the errors were severe errors (overdosing medications with narrow therapeutic index or over-riding allergies), 46.28% were moderate errors (overdosing, wrong dosing, duplicate orders, or prescribing multiple antibiotics), and 3.71% were not harmful errors (wrong dosing or incomplete orders). The errors were also categorized according to the class of medication. Errors in antibiotic prescription accounted for 53.9% of all errors. The pharmacist detected all these prescription errors as the prescriptions were reviewed in the CPOE system. Prescription errors are common medical errors seen in hospitals. The CPOE system has prevented and alerted the prescriber and pharmacist to dosage errors and allergies. Involvement of the pharmacist in reviewing the prescription and alerting the physician has minimized prescription errors to a great degree in our hospital setting. The incidence of prescription errors before the CPOE has been reported to range from 3 to 99 per 1000 prescriptions. The disparity could be due to the definition of medical errors, which has changed over the years, and also number of prescriptions included in the study and the study design.

Death within 48 hours of admission to the emergency department: the value of autopsy.

OBJECTIVE: To identify factors that contribute to patient death within 48 hours of admission to the emergency department. MATERIALS AND METHODS: A retrospective study of the patients who died within 48 hours of admission to the emergency department, from the years 2000 to 2003. The antemortem diagnosis and postmortem diagnosis were compared. RESULTS: A total of 189 autopsies were performed. The mean age at death for men (41.4 years) was lower than that for women (48.6) (p = 0.02). In both men and women, cardiac system involvement was the leading cause of death (27.5%), with myocardial infarction at 21.2%. The other common causes of death for both genders were blunt trauma (20.1%), intoxication with alcohol and/or other drugs (13.8%), penetrating trauma (gunshot or stab injuries) (13.2%), pulmonary thromboembolism (7.9%), and death caused by other respiratory causes (7.4%). Death caused by pulmonary thromboembolism was more common in women, whereas death caused by strokes, burns, and penetrating trauma were seen almost exclusively in men. CONCLUSIONS: Our study found a considerable concordance between the presumed antemortem cause of death and the postmortem findings. Although the mean age of death caused by myocardial infarction in our study was 52.45 years, MI caused a significant number of deaths among adults younger than 40 years of age.

Regression of grade III astrocytoma during the treatment of CML with imatinib mesylate.

Astrocytomas are central nervous system neoplasms, which are derived predominately from astrocytes. On the basis of the histopathologic characteristics astrocytomas are graded from I to IV. The cells that demonstrate the greatest degree of anaplasia are used to determine the histologic grade of the tumor. The mean age of survival are approximately 10 years from the time of diagnosis for pilocystic astrocytomas (World Health Organization grade I), more than 5 years for patients with low-grade diffuse astrocytomas (WHO grade II), 2 to 5 years for those with anaplastic astrocytomas (WHO grade III), and less than 1 year for patients with glioblastoma (WHO grade IV). The treatment is a combination of surgery, radiation, and chemotherapy depending of the grade of astrocytoma. We present a case of 31-year-old man with grade III astrocytoma with subsequent chronic myelogenous leukemia treated with imatinib mesylate as part of his chronic myelogenous leukemia treatment failing to show recurrence of the astrocytoma 10 years after standard treatment for astrocytoma.

Infective endocarditis of native valve after anterior nasal packing.

We present a case report of a patient who was previously treated for spontaneous epistaxis with a petroleum jelly gauze (0.5 in x 72 in) anterior nasal packing filled with an antibiotic ointment, along with prophylactic oral clindamycin. The patient presented with fever and hypotension 3 days after the nasal packing. Her blood cultures grew methicillin-resistant Staphylococcus aureus and the transesophageal echocardiography showed vegetation on the atrial surface of the posterior mitral valve leaflet, confirming the diagnosis of bacterial endocarditis attributable to nasal packing. Several case reports discuss toxic shock syndrome after nasal packing, but none describe endocarditis of the native heart valves subsequent to anterior nasal packing. Current guidelines on endocarditis prophylaxis produced by the American Heart Association, European Cardiac Society, and British Cardiac Society together with published evidence do not recommend endocarditis prophylaxis for patients with native heart valves undergoing anterior nasal packing.

Pseudomonas aeruginosa AmpR is a global transcriptional factor that regulates expression of AmpC and PoxB beta-lactamases, proteases, quorum sensing, and other virulence factors.

In members of the family Enterobacteriaceae, ampC, which encodes a beta-lactamase, is regulated by an upstream, divergently transcribed gene, ampR. However, in Pseudomonas aeruginosa, the regulation of ampC is not understood. In this study, we compared the characteristics of a P. aeruginosa ampR mutant, PAOampR, with that of an isogenic ampR+ parent. The ampR mutation greatly altered AmpC production. In the absence of antibiotic, PAOampR expressed increased basal beta-lactamase levels. However, this increase was not followed by a concomitant increase in the P(ampC) promoter activity. The discrepancy in protein and transcription analyses led us to discover the presence of another chromosomal AmpR-regulated beta-lactamase, PoxB. We found that the expression of P. aeruginosa ampR greatly altered the beta-lactamase production from ampC and poxB in Escherichia coli: it up-regulated AmpC but down-regulated PoxB activities. In addition, the constitutive P(ampR) promoter activity in PAOampR indicated that AmpR did not autoregulate in the absence or presence of inducers. We further demonstrated that AmpR is a global regulator because the strain carrying the ampR mutation produced higher levels of pyocyanin and LasA protease and lower levels of LasB elastase than the wild-type strain. The increase in LasA levels was positively correlated with the P(lasA), P(lasI), and P(lasR) expression. The reduction in the LasB activity was positively correlated with the P(rhlR) expression. Thus, AmpR plays a dual role, positively regulating the ampC, lasB, and rhlR expression levels and negatively regulating the poxB, lasA, lasI, and lasR expression levels.