IntroductionProlidase deficiency (PD) is a rare autosomal recessive disorder which may have a wide spectrum of clinical features. These features include a characteristic facies, cognitive impairment, rashes or skin ulceration, splenomegaly, recurrent infections involving mainly the respiratory system, and iminodipeptiduria. The disorder is caused by a mutation in the PEPD gene.ObjectiveTo describe a cohort of unrelated PD patients from Northern Israel whose inborn error of metabolism was associated with systemic lupus erythematosus (SLE) and to identify in the medical literature all PD cases mimicked by and/or associated with SLE.MethodsThree patients with PD associated with SLE were clinically, biochemically and genetically investigated. These patients were from 3 unrelated consanguineous families residing in Northern Israel. A computer-assisted (PubMed) search of the medical literature from 1975 to 2011 was performed using the following key words: Prolidase deficiency, SLE, and systemic lupus erythematosus.ResultsAn association between PD and SLE was found in 10 PD patients. These 10 patients included three from our cohort of 23 PD patients, and seven out of just under 70 PD patients previously reported in the literature.ConclusionThe present findings underscore the relatively high incidence of the association between SLE and PD, suggesting that this association may not be coincidental. The phenotypic similarities between SLE and PD might suggest that the PEPD gene constitutes a modifier gene or a genetic risk factor in the causation of SLE.
The Integrated Pulmonary Index (IPI) is an algorithm included in commercially available monitors that constitutes a representation of 4 parameters: EtCO2, RR, SpO2 and PR. The IPI index has been validated for adults and children older than 1 year of age. In this study we aimed to study the value of IPI monitoring during pediatric endoscopic procedures. Our data consisted of 124 measurements of 109 patients undergoing different procedures (upper endoscopy 84 patients, colonoscopy 6 patients, both 9 patients). The data was divided into 3 groups based on the drug type used: propofol only, 5 patients (group 1); propofol & midazolam, 89 patients (group 2); propofol, midazolam and Fentanyl, 15 patients (group 3). Patients in group 2 and 3 had significantly higher IPI levels than group 1. Significantly lower IPI values were found between ages 4-6 compared to 7-12 years old. High midazolam dose was associated with lower IPI levels during the procedure. No significant differences were found for propofol doses. Patients who had an anesthetist present had lower IPI levels during the procedure compared to those who did not. No differences were noted between the different procedures. IPI alerted all apnea episodes (58 events, IPI = 1) and hypoxia (26 events, IPI ≤ 3) episodes, whereas pulse oximetry captured only the hypoxia episodes (IPI sensitivity = 1, specificity 0.98, positive predictive value 0.95). Younger patient age, use of propofol alone, higher midazolam doses and presence of anesthetist are all associated with lower IPI levels.
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