Recognizing critically ill children with a modified pediatric early warning score at the emergency department, a feasibility study.

Pediatric Early Warning Scores were developed to monitor clinical deterioration of children admitted to the hospital. Pediatric Early Warning Scores could also be useful in the Emergency Department to quickly identify critically ill patients so treatment can be started without delay. To determine if a newly designed, fast, and easy to use Modified Pediatric Early Warning Score can identify critically ill children in the Emergency Department. We conducted a retrospective observational study in the Emergency Department of an urban district hospital in Rotterdam, the Netherlands. Patients < 16 years attending the Emergency Department with an internal medical problem were included. Immediate intensive care unit admission was used as a measure for critically ill children. During the study period 2980 children attended the Emergency Department, ten (0.4%) of them required immediate intensive care unit admission. The Modified Pediatric Early Warning Score can identify critically ill children in the general pediatric Emergency Department population (area under the ROC curve 0.82). A sensitivity of 80% and specificity of 85% show potential to rule out critical illness in children visiting the Emergency Department when these results are validated in a larger population. A model containing both the Modified Pediatric Early Warning Score and the Manchester Triage System did not perform significantly better than the Manchester Triage System alone but did show a positive tendency in favor of the model containing the Modified Pediatric Early Warning Score and Manchester Triage System, area under the ROC curve 0.89 [95% CI 0.77-1.00] versus area under the ROC curve 0.82 [95% CI 0.68-0.95].Conclusions: In this feasibility study, the Modified Pediatric Early Warning Score could be a fast and easy to use tool to identify critically ill children in the general pediatric Emergency Department population. The effectiveness of the Modified Pediatric Early Warning Score may be optimized if combined with triage systems such as the Manchester Triage System. A larger prospective study is needed to confirm our results. What is known: • Pediatric Early Warning Scores can identify children who are in need for immediate intensive care unit admission at the Emergency Department. • Pediatric Early Warning Scores can be time-consuming, contain subjective parameters or parameters which are difficult to obtain in a reliable and standardized method. What is new: • We introduce a simplified, manageable and smartly designed Pediatric Early Warning Score on a pocket card based on an existing and previously investigated Pediatric Early Warning Score. • In this feasibility study the diagnostic performance of the Modified Pediatric Early Warning Score to predict immediate intensive care unit admission in the Emergency Department is in line with the original Pediatric Early Warning Scores but has to be validated on a larger scale.

Ocular syphilis acquired through oral sex in two HIV-infected patients.

Two cases of ocular syphilis are described in HIV-infected individuals after unprotected oral sex. The primary syphilitic lesion remained unnoticed and lues was therefore only diagnosed after visual symptoms developed.

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).

A Dutch family with autosomal dominant retinitis pigmentosa (adRP) displayed a phenotype characterized by an early age of onset, a diffuse loss of rod and cone sensitivity, and constricted visual fields (type I). One male showed a mild progression of the disease. Linkage analysis showed cosegregation of the genetic defect with markers from chromosome 17p13.1-p13.3, a region overlapping the RP13 locus. The critical interval of the RP locus as defined in this family was flanked by D17S926 and D17S786, with a maximal lod score of 4.2 (theta = 0.00) for marker D17S1529. Soon after the mapping of the underlying defect to the 17p13 region, a missense mutation (6970G>A; R2310K) was identified in exon 42 of the splicing factor gene PRPC8 in one patient of this family. Diagnostic restriction enzyme digestion of exon 42 amplified from genomic DNA of all family members revealed that the R2310K mutation segregated fully with the disease. The type I phenotype observed in this family is similar to that described for three other RP13 families with mutations in PRPC8.

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive degeneration of the peripheral retina leading to night blindness and loss of visual fields. With an incidence of approximately 1 in 4000, RP can be inherited in X-linked, autosomal dominant or autosomal recessive modes. The RP13 locus for autosomal dominant RP (adRP) was placed on chromosome 17p13.3 by linkage mapping in a large South African adRP family. Using a positional cloning and candidate gene strategy, we have identified seven different missense mutations in the splicing factor gene PRPC8 in adRP families. Three of the mutations cosegregate within three RP13 linked families including the original large South African pedigree, and four additional mutations have been identified in other unrelated adRP families. The seven mutations are clustered within a 14 codon stretch within the last exon of this large 7 kb transcript. The altered amino acid residues at the C-terminus exhibit a high degree of conservation across species as diverse as humans, Arabidopsis and trypanosome, suggesting that some functional significance is associated with this part of the protein. These mutations in this ubiquitous and highly conserved splicing factor offer compelling evidence for a novel pathway to retinal degeneration.

Indirect calorimetry in mechanically ventilated infants and children: accuracy of total daily energy expenditure with 2 hour measurements.

OBJECTIVE: To determine how accurately total daily energy expenditure can be estimated from measurement periods of less than 24 h in mechanically ventilated infants and children. DESIGN: Prospective study to validate a method to determine energy expenditure. SETTING: Pediatric intensive care unit of an university hospital. PATIENTS: Nineteen ventilated patients (age 3 weeks - 13 years) with a FiO(2)of less than 60% and tube leakage < 10% (the difference between inspiratory and expiratory tidal volume measured by the ventilator). Separately, in five patients with varying tube leakage (2-59%) the influence of tube leakage on measured energy expenditure was determined. MEASUREMENT: Energy expenditure was measured by indirect calorimetry. Total daily energy expenditure measurements for 24 h were compared with 2 h energy expenditure measurements. The influence of body temperature on measured energy expenditure was determined. RESULTS: The mean coefficient of variation among 2 hour periods of measured energy expenditure was 6% (range 2-11%) compared with total daily energy expenditure measurements. The influence of body temperature revealed an increase of 6% of energy expenditure/ degrees C. An increased tube leakage influenced the energy expenditure measurements significantly (P<< 0. 001). CONCLUSION: In a clinical situation in patients with a tube leakage << 10% total daily energy expenditure can be estimated from a 2 h measurement period.

Energy expenditure and substrate utilization in mechanically ventilated children.

The objective of the study was to determine the value of indirect calorimetry and nitrogen balance (N balance) in order to evaluate the current feeding protocols of mechanically ventilated children. The study was designed as a cross-sectional prospective study. In 36 mechanically ventilated children energy expenditure was measured by indirect calorimetry, and total urinary nitrogen excretion (TUN) was determined. Substrate utilization and respiratory quotient (RQ) were calculated from the measured values of oxygen consumption (VO2), carbon dioxide production (VCO2), and TUN. The RQ was compared with the RQ of the macronutrients administered (RQmacr) according to the modified criteria of Lusk. In results, the total measured energy expenditure (TMEE) showed a wide variation (range 155-272 kJ.kg-1.d-1). The N balance was positive in 20 and negative in 16 patients. The ratio of caloric intake/TMEE was significantly higher in patients with a positive N balance (1.50 +/- 0.06) as compared with those with a negative N balance (0.8 +/- 0.1, P < 0.001). There was a significant relationship between the difference of RQ-RQmacr versus the ratio caloric intake/TMEE (r = 0.72, P < 0.001). Carbohydrate and fat utilization were not significantly different in patients with a positive or negative N balance. Protein utilization was significantly higher in those patients with a negative N balance. We concluded that measurement of TMEE with indirect calorimetry results in accurate determination of energy needs in critically ill mechanically ventilated children. Feeding according to or in excess of the TMEE is correlated with a positive N balance. A combination of the RQ and the RQmacr can be helpful in differentiating under- or overfeeding.

Joint hypermobility in African non-pregnant nulliparous women.

OBJECTIVE: To investigate the prevalence of joint hypermobility in non-pregnant nulliparous women and the influences of age and Quetelet-index in a rural, female population in Tanzania. STUDY DESIGN: A cross-sectional study. Joint mobility was measured according to the scoring systems of Beighton and Biro. RESULTS: According to the Beighton criteria with a score of 0 to 9 points, 50.5% of 705 non-pregnant nulliparous women scored 3, while 30.8% scored > or =4 and 18.6% > or =5. There were no correlations between hypermobility and age or Quetelet-index. The prevalence of hypermobility at the dominant body side was significantly lower (19.2%) than at the non-dominant side (23.4%) (p<0.001). CONCLUSION: This study confirms that there are ethnic differences in the prevalence of hypermobility. The prevalence of hypermobility in Tanzanian non-pregnant nulliparous women is about 1.5-times higher as compared to Dutch non-pregnant nulliparous women. Prevalence of hypermobility was higher at the non-dominant body side. The most predictive test for the diagnosis of hypermobility was the hyperextension of the elbows >10 degrees.

Comparison of measured and predicted energy expenditure in mechanically ventilated children.

OBJECTIVE: To determine the energy requirements in mechanically ventilated pediatric patients using indirect calorimetry and to compare the results with the predicted metabolic rate. DESIGN: In 50 mechanically ventilated children with a moderate severity of illness, energy expenditure was measured by indirect calorimetry. Daily caloric intake was recorded for all patients. Total urinary nitrogen excretion was determined in 31 patients. RESULTS: Although there was a close correlation between the measured total energy expenditure (mTEE) and the predicted basal metabolic rate (pBMR) (r = 0.93, p < 0.001), Bland-Altman analysis showed lack of agreement between individual mTEE and pBMR values. The ratio of caloric intake/mTEE was significantly higher in the patients with a positive nitrogen balance (1.4 +/- 0.07) compared with those with a negative nitrogen balance (0.8 +/- 0.1; p < 0.001). CONCLUSIONS: Standard prediction equations are not appropriate to calculate the energy needs of critically ill, mechanically ventilated children. Individual measurements of energy expenditure and respiratory quotient by means of indirect calorimetry in combination with nitrogen balance are necessary for matching adequate nutritional support.

A carbon-13 nuclear magnetic resonance study of the 3'-terminus of 16S ribosomal RNA of Escherichia coli specifically labeled with carbon-13 in the methylgroups of the m6(2)Am6(2)A sequence.

30S ribosomes were isolated from a kasugamycin resistant mutant of E. coli that lacks methylgroups on two adjacent adenines in 16S ribosomal RNA. These ribosomes were methylated in vitro with a purified methylating enzyme and 5-S-adenosyl-(13C-methyl)-L-methionine chloride ((13C-methyl)-SAM) as methyldonor. After in situ cleavage of the 16S ribosomal RNA by the bacteriocin cloacin DF13, the 49 nucleotide fragment from the 3'-end of the RNA was isolated. The carbon-13 nuclear magnetic resonance spectra of the fragment at various temperatures were compared with those of 6-N-dimethyladenosine (m6(2)A) and 6-N-dimethyladenylyl-(3' leads to 5')-6-N-dimethyladenosine (m6(2)Am6(2)A). The data show that the two methylated adenines, which are part of a four membered hairpin loop, show a strong tendency to be stacked in analogy to the dinucleotide m6(2)Am6(2).