A Chinese adolescent girl with Fechtner-like syndrome

We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients.     

Fetal heart rate and umbilical artery flow velocity variability in intrauterine growth restriction: a matched controlled study.

OBJECTIVES: To study heart rate and umbilical artery blood flow velocity variability in growth-restricted fetuses and investigate the influence of the autonomic nervous system on these parameters. METHODS: Doppler velocity waveforms were collected from long-lasting umbilical artery recordings in 15 fetuses with growth restriction and 15 normal age-matched controls at 23-35 weeks of gestation. Absolute heart rate and umbilical artery blood flow velocity as well as the coefficient of variation were determined. Using power spectral analysis the low- and high-frequency bands of heart rate variability and blood flow velocity variability were calculated. The low-to-high (LH) ratio of heart rate variability and blood flow velocity variability were examined as a measure of sympathovagal balance. RESULTS: In growth-restricted fetuses umbilical artery velocities were significantly reduced. Heart rate variability was significantly reduced in the presence of growth restriction, but no significant difference was demonstrated for blood flow velocity variability. The LH ratio for heart rate variability was significantly decreased in growth restriction, but no difference in LH ratio was demonstrated for blood flow velocity variability. CONCLUSION: Flow velocity variability in growth restriction seems not to be predominantly influenced by the autonomic nervous system, whereas the decreased heart rate variability seems to be influenced by altered sympathetic-parasympathetic balance.     

Diagnostic value of anti-Candida enolase antibodies.

An immunodominant antigen with enolase enzyme activity was purified and used for the development of an assay to detect antibodies directed against this antigen in sera from patients with either invasive candidiasis or Candida colonization. The Au enzyme-linked immunosorbent assay established with the Candida enolase antigen was able to discriminate significantly between invasive candidiasis and colonization in both immunocompetent and immunodeficient groups of patients. The test had a sensitivity of 50% and a specificity of 86% in the immunocompetent patient group. In the immunodeficient patient group, a sensitivity of 53% and a specificity of 78% were established. Antibody levels determined by a counterimmunoelectrophoresis assay with the same set of sera resulted in a better sensitivity for sera from the immunocompetent patient group but a lower specificity, i.e., 80 and 29%, respectively. The counterimmunoelectrophoresis assay of sera from the immunodeficient patient group was not able to discriminate significantly between invasive candidiasis and colonization. With the use of more serum from each patient, the sensitivity of the antibody detection assays increased, while the specificity was maintained. The increase, however, was not statistically significant. Combining the results of the antibody assays with antigen titers obtained by the Cand-Tec assay did not improve the predictive value with respect to invasive candidiasis, as determined by multivariance regression analysis. Furthermore, it was demonstrated by performance of Western blots (immunoblots) that sera from patients as well as a rabbit antiserum cross-reacted with the Candida enolase and baker's yeast enolase enzyme. However, by tandem crossed immunoelectrophoresis it was demonstrated that the antibodies were directed toward different epitopes of the antigen.     

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.     

Tibial quantitative ultrasound versus whole-body and lumbar spine DXA in a Dutch pediatric and adolescent population

RATIONALE AND OBJECTIVES: To understand normal bone development, studies in healthy children and adolescents are important. To assess the applicability of tibial quantitative ultrasound measurements (QUS) in children, we performed a study that compared dual-energy x-ray absorptiometry (DXA) of the lumbar spine and whole body with tibial QUS. METHODS: For this study we recruited 146 Dutch children and adolescents, 58 boys (median age, 14.1 years; range, 7.6-23.4 years) and 88 girls (median age, 18.0 years; range, 7.6-23.5 years). Tanner stage, weight, and height were assessed for all participants. Bone mineral density (BMD; g x cm(-2)) of the whole body and lumbar spine (L2-L4) and bone mineral apparent density (BMAD) of the lumbar spine (g x cm(-3)) were assessed by using the Lunar DPXL. For tibial QUS, the Soundscan compact system was used. RESULTS: Both lumbar as well as whole-body BMD showed a strong, significant correlation with tibial QUS in boys and girls: rtotal body boys = 0.81, rtotal body girls = 0.77, rlumbar spine boys = 0.79, and rlumbar spine girls = 0.72. Lumbar spine BMAD also showed significant correlations with tibial QUS: rboys= 0.63 and rgirls = 0.63 (for all correlations, P < 0.001). CONCLUSIONS: Our study showing strong, significant correlations between DXA and tibial QUS measurements suggests that tibial QUS is a technique that may be applicable in children and adolescents.     

Current sexual functioning in 106 patients with Peyronie's disease treated with radiotherapy 9 years earlier

Objectives. To analyze retrospectively the sexual functioning and treatment outcome in patients after radiotherapy (RT) for Peyronie’s disease.Methods. During 1982 to 1997, 179 patients with Peyronie’s disease were treated at our radiation oncology department. One hundred thirty patients whose address could be traced were sent a questionnaire about their symptoms before RT, treatment outcome, and current sexual functioning (the past 4 weeks). One hundred six patients, mean age 59 years, responded.Results. Before RT, 44% reported painful erections, 97% penile curvature, and 18% erectile dysfunction. Sixty-nine percent reported that after RT, penile pain was diminished and 29% that penile curvature was decreased; 13% reported improved erections. With respect to their current sex life, 51% reported sometimes or always having problems getting an erection and 61% in maintaining an erection; 36% never experienced spontaneous erections. Fifty-four percent reported not having erections rigid enough for sexual activity. Since RT (mean 9 years), there had been a moderate or severe decrease in sexual interest (17%), sexual activity (41%), and sexual pleasure (32%). Overall, 49% of patients were dissatisfied with their current sexual functioning.Conclusions. Low-dose external RT resulted in relief of pain in two thirds of patients with Peyronie’s disease. An improvement in penile curvature was reported in one third of patients. One half of men reported problems in getting an erection. The rigidity of erections was satisfactory in only 54%. There was a moderate to severe decrease in sexual interest, activity, and pleasure after RT; however, this was associated with age, although comorbidity or medications cannot be excluded.