B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome

We report on two brothers with hyperimmunoglobulinemia D (patient 1: serum immunoglobulin D [IgD] concentration initially 61 IU/ml, later on 340 IU/ml; patient 2: serum IgD concentration 144 IU/ml; normal <100 IU/ml, 97th centile) and periodic fever syndrome (HIDS). Both are compound heterozygous for the mevalonate kinase (MVK) mutations V377I and I268T. They developed significant B cell cytopenia (7%, 129/μl and 11%, 132/μl, respectively; normal ranges 12–22%, 300–500/μl) with hypogammaglobulinemia (IgG 5.48 g/l and IgG 5.22 g/l, respectively; normal range IgG 6–13 g/l). Furthermore, the clinical spectrum shows an interesting atypical autoinflammatory symptomatology. The therapy consisted of prednisone, azathioprine, and intravenous immunoglobulins (IVIG), which results in reduced incidence and severity of febrile attacks. Conclusion: The pathogenesis and clinical presentation of HIDS is still not fully understood and show a great variability. To our knowledge, severe B cell cytopenia in children with HIDS has not been reported before. Furthermore, the therapy of febrile episodes is still performed on an individual basis in affected patients.     

Bedside detection of low systemic flow in the very low birth weight infant on day 1 of life

We aimed to assess the relationship between the clinical and biochemical parameters of perfusion and superior vena cava (SVC) flow in a prospective observational cohort study of very low birth weight (VLBW) infants. Newborns with congenital heart disease were excluded. Echocardiographic evaluation of SVC flow was performed in the first 24 h of life. Capillary refill time (forehead, sternum and toe), mean blood pressure, urine output and serum lactate concentration were also measured simultaneously. Thirty-eight VLBW infants were examined. Eight patients (21%) had SVC flow less than 40 ml/kg/min. There was a poor correlation between the capillary refill time (in all sites), mean blood pressure, urine output and SVC flow. The correlation coefficient for the serum lactate concentration was r = −0.28, p = 0.15. The median serum lactate concentration was 3.5 (range 2.8–8.5) vs. 2.7 (range 1.2–6.9) mmol/l (p = 0.01) in low flow versus normal flow states. A serum lactate concentration of >2.8 was 100% sensitive and 60% specific for detecting a low flow state. Combining a capillary refill time of >4 s with a serum lactate concentration of >4 mmol/l had a specificity of 97% for detecting a low SVC flow state. Serum lactate concentrations are higher in low SVC flow states. A capillary refill time of >4 s combined with serum lactate concentrations >4 mmol/l increased the specificity and positive and negative predictive values of detecting a low SVC flow state.     

Mannose-binding lectin polymorphisms and recurrent respiratory tract infection in Chinese children

In order to establish the reference value of mannose-binding lectin (MBL) serum level in children and to investigate the correlation between the polymorphisms of MBL2 gene and serum MBL level in healthy Chinese of Han ethnic group and in children of Chinese Han ethnic group with recurrent respiratory tract infections (RRTI), the concentration of oligomerized MBL was measured by enzyme-linked immunosorbent assay, and MBL2 gene polymorphisms were analyzed by restriction fragment length polymorphism of polymerase chain reaction and polymerase chain reaction-sequence specific primer. The median MBL levels in the 470 normal children were 2536 ng/ml, and the P_2.5–P_97.5 was 161–5,070 ng/ml. Our research showed that two promoter polymorphisms at −550, −221 of start codon and coding variants at codon 54 of MBL2 gene affected the protein level significantly and the most frequent genotype in Hans is HYPA/HYPA. Our results also showed that serum MBL level was significantly lower in recurrent respiratory tract infections patients compared with healthy controls (Z, −3.04, P = 0.002). The frequency of the promoter LXP haplotype and the B allele was significantly higher in RRTI patients than in controls (χ ² 4.05, P < 0.05; OR 1.63, 95%CI 1.01∼2.62; χ ² 4.27, P < 0.05; OR 1.94, 95%CI 1.02∼3.68). Conclusion: We have established that the reference value of serum MBL level in Chinese aged between 0 and 6 years (161–5,070 ng/ml), and we found that LXP and the B are risk factors for RRTI.     

Plasma levels of interleukin-6 and interleukin-10 in preterm neonates evaluated for sepsis

In a prospective study, plasma interleukin-6 (IL-6) and interleukin-10 (IL-10) levels were measured by enzyme-linked immunosorbent assay in 45 premature neonates (25–34 weeks gestational age) with signs and symptoms of suspected sepsis at 0, 12 and 24 h; C-reactive protein (CRP) was measured at 0–24 h after enrolment. Six subjects were excluded due to insufficient blood sampling. The remaining 39 neonates were assigned to one of three groups: 25 newborns with sepsis (blood culture positive), seven with pneumonia (positive results on broncho-alveolar lavage fluid culture and characteristic chest radiography) and seven with necrotising enterocolitis (NEC) (characteristic intestinal and radiological signs according to the criteria of Bell et al.). A group of 20 healthy preterm neonates represented control subjects. On admission, higher levels of IL-6, IL-10 and CRP were observed in neonates with sepsis: IL-6 (median 1500 pg/ml, range 487–10000 pg/ml), IL-10 (median 113 pg/ml, range 70–196 pg/ml), CRP (median 22 mg/l, range 4–80 mg/l); pneumonia: IL-6 (median 1500 pg/ml, range 747–8000 pg/ml, IL-10 (median 84 pg/ml, range 76–92 pg/ml), CRP (median 10 mg/l, range 8–33 mg/l) and NEC: IL-6 (median 6650 pg/ml, range 1595–7950 pg/ml), IL-10 (median 80 pg/ml, range 61–147 pg/ml), CRP (median 3 mg/l, range 2.8–8 mg/l) as compared to controls (IL-6 median 208 pg/ml, range 198–349 pg/ml; IL-10 median 36 pg/ml, range 19–50 pg/ml; CRP median <2 mg/l) (P < 0.05). In neonates with sepsis, IL-6 levels were significantly correlated with IL-10 levels (r=0.65; P=0.04) at the time of the second sample. The highest IL-6 levels were observed at onset, while IL-10 was predominant 12 h later. On admission, IL-10 and CRP levels were significantly higher in non-survivors (IL-10 median 507 pg/ml, range 422–753 pg/ml; CRP median 123 mg/l, range 20–219 mg/l) than in survivors (IL-10 median 76 pg/ml, range 61–143 pg/ml; CRP median 8 mg/l range 3–46 mg/l), while IL-10 levels were significantly higher (P < 0.05) also 12 h after admission (non-survivors: IL-10 median 600 pg/ml, range 538–800 pg/ml; survivors: IL-10 median 74 pg/ml, range 53–161 pg/ml). IL-6 and IL-10 levels were significantly correlated with CRP levels on admission (r=0.45; P=0.05). Conclusion Preterm neonates with sepsis, pneumonia or necrotising enterocolitis showed increased interleukin-6, interleukin-10 and C-reactive protein levels. High interleukin-10 concentration was associated with mortality and could be an early indicator of prognosis. Received: 21 November 2000 / Accepted: 23 January 2001     

Validation of cardiac output measurement by ultrasound dilution technique with pulmonary artery thermodilution in a pediatric animal model

Novel COstatus system (Transonic Systems, Inc., NY), based on ultrasound dilution (UD), works off in situ arterial and central venous catheters in pediatric patients to measure cardiac output (CO). The purpose of the present study was to validate CO measurement by UD (COUD) with pulmonary artery (PA) thermodilution (COTD) in a prospective animal study. Ten anesthetized pigs (16–45 kg) were instrumented with pediatric PA, central venous, and peripheral artery catheters. For COUD measurements, normothermic saline (0.5–1.0 ml/kg body weight, up to a maximum of 30 ml) was injected into the venous limb of an arteriovenous loop that was connected between in situ catheters. For COTD measurements, 5–10 ml cold saline was injected into the PA catheter. Sixty-four averaged sets were obtained for comparison. COTD mean was 2.98 ± 1.21 l/min (range 1.33–6.29), and COUD mean was 2.68 ± 1.16 l/min (range 1.33–5.85). This study yielded a correlation r = 0.96, COUD = 0.91*(COTD) − 0.04 l/min; bias was 0.3 l/min with limits of agreement as −0.39 to 0.99 l/min; and the percentage error was 23.73% between the methods. CO measurements by UD agreed well with thermodilution measurements in the pediatric swine model.     

Hypercalciuria is the main renal abnormality finding in Human Immunodeficiency Virus-infected children in Venezuela

Kidney involvement in children with Human Immunodeficiency Virus (HIV) infection is increasing in prevalence in parallel with the longer survival of HIV-infected patients and the side-effects of new antiretroviral drugs. However, there are only a few reports describing renal tubular disorders in HIV+ children. This is a cross-sectional, case series study evaluating kidney disease in 26 Venezuelan HIV-infected children. The study cohort consisted of 15 girls and 11 boys, with a median age of 5.9 years (25–75th percentile: 3.6–7.8), who had been treated with antiretrovirals for 2.8 ± 0.4 years, Overall, the patients were short for their age and gender (Z-height: −3.1; 25–75th percentile: −4.94 to −1.98), and 15 showed signs of mild to moderate malnutrition. All of the children had a normal estimated glomerular filtration rate (136 ± 22.6 ml/min/1.73 m²), and glomerular involvement was only observed in one patient with isolated proteinuria. None had nephromegaly. In contrast, tubular disorders were commonly found. Hypercalciuria was detected in 16 of the patients (UCa/Cr = 0.28; 25–75th percentile: 0.17–0.54 mg/mg), with five of these showing crystalluria. Eight children showed hyperchloremia, and three had frank metabolic acidosis. Kidney stones were absent in all, but one boy had bilateral medullary nephrocalcinosis. Conclusion, in Venezuelan children, HIV infection per se, or its specific treatment, was commonly associated with renal tubular dysfunction, especially hypercalciuria and acidosis, potentially leading to nephrocalcinosis and growth impairment. We recommend renal tubular evaluation during the follow-up of children with HIV infection.     

Left Ventricular Mass in 169 Healthy Children and Young Adults Assessed by Three-Dimensional Echocardiography

The aims of this study were to establish normal values of left ventricular (LV) mass in children and young adults using three-dimensional echocardiography (3-DE) and to compare 3-DE LV mass estimates with those obtained by conventional echocardiographic methods. We studied 169 healthy subjects aged 2–27 years by digitized 3-D, two-dimensional (2-D), and M-mode echocardiography. 3-D echocardiography was performed by using rotational acquisition of planes at 18° intervals from apical view with ECG gating and without respiratory gating. 3-DE gave smaller LV mass estimates than 2-DE and M-mode echocardiography (p < 0.001). Agreement analysis resulted in a bias of −9.3 ± 36.5 g between 3-DE and 2-DE, and −18.5 ± 47.9 g between 3-DE and M-mode. For the analysis, the subjects were divided into five groups according to body surface area (BSA): 0.5–0.75, 0.75–1.0, 1.0–1.25, 1.25–1.5, and greater than 1.5 m². LV mass/BSA by 3-DE was 45.6 (5.1), 54.3 (7.7), 55.2 (7.9), 58.8 (8.1), and 65.0 (9.9) g/m². LV mass/end diastolic volume (EDV) by 3-DE was 0.9 (0.1) g/ml in the BSA group of 0.5–0.75 m² and 1.0 (0.2) g/ml in the other BSA groups. LV mass increased linearly in relation to BSA, height, and body mass (r = 0.93, 0.90, and 0.92, respectively; p < 0.001 for all). The results showed a linear increase in LV mass, whereas LV mass/EDV ratio remained unchanged. However, LV mass estimates by 3-DE were lower than those obtained by 2-DE and M-mode echocardiography. The data obtained by 3-DE from 169 healthy subjects will serve as a reference for further studies in patients with various cardiac abnormalities.     

Normal saline is a safe initial rehydration fluid in children with diarrhea-related hypernatremia

To demonstrate safety and efficacy of using normal saline (NS) for initial volume expansion (IVE) and rehydration in children with diarrhea-related hypernatremic dehydration (DR-HD), forty eight patients with DR-HD were retrospectively studied. NS was used as needed for IVE and for initial rehydration. Fluid deficit was given over 48 h. Median Na⁺ level on admission was 162.9 mEq/L (IQR 160.8–165.8). The median average hourly drop at 6 and 24 h was 0.53 mEq/L/h (0.48–0.59) and 0.52 mEq/L/h (0.47–0.57), respectively. Compared to children not needing IVE, receiving ≥40 ml/kg IVE was associated with a higher average hourly drop of Na⁺ at 6 h (0.51 vs. 0.58 mEq/L/h, p = 0.013) but not at 24 h (p = 0.663). The three patients (6.3%) with seizures had a higher average hourly drop of Na⁺ at 6 and 24 h (p = 0.084 and 0.021, respectively). Mortality (4/48, 8.3%) was not related to Na⁺ on admission or to its average hourly drop at 6 or 24 h. Children receiving ≥40 ml/kg IVE were more likely to die (OR 3.3; CI, 1.5–7.2). Conclusion: In children with DR-HD, NS is a safe rehydration fluid with a satisfactory rate of Na⁺ drop and relatively low incidence of morbidity and mortality. Judicious use of IVE should be exerted and closer monitoring should be guaranteed for children requiring large volumes for IVE and for those showing rapid initial drop of serum Na⁺ to avoid neurological complications and poor outcome.     

Age effect on whole blood cyclosporine concentrations following oral administration in children with nephrotic syndrome

The aim of this study was to investigate age-related pharmacokinetic differences of cyclosporine (CyA) in children with nephrotic syndrome. Whole blood concentrations of CyA were monitored for a total of 96 times in 36 cases. The 25 male and 11 female patients ranged in age from 1.9 to 19.7 years with a mean age of 9.1 years. Renal biopsy showed minimal change in 33 patients and focal segmental glomerulosclerosis in three patients. CyA was orally administered in two divided doses just before meals. The doses of CyA administered were adjusted such that the target value for blood concentration at 2 h post-dose (C2) was 400–450 ng/ml. The 96 subjects were divided into three groups according to age: group I, 1–5 years (n = 30); group II, 6–10 years (n = 34); and group III, ≥ 11 years (n = 32). In all subjects, peak levels (Cmax) of CyA were reached at C1 or C2. There was no significant difference between the groups for C2, area under the whole blood concentration–time curve up to 4 h post-dose (AUC0–4), and Cmax. The mean CyA doses of groups I, II, and III were 4.8 ± 1.0 mg/kg/day, 3.8 ± 0.9 mg/kg/day, and 3.0 ± 0.6 mg/kg/day, respectively, and there were significant differences between every two groups. In addition, the dose-normalized Cmax (Cmax/dose) and AUC0–4 (AUC0–4/dose) values were significantly lower in the younger group than in the older group. These findings suggested that in children, when the same concentration is targeted, the required CyA dose would vary according to age but would be significantly higher for the younger children.     

Prediction of extubation failure in preterm neonates

The aim of this study was to compare the results of lung function measurements made before and after extubation and ventilator settings recorded immediately prior to extubation with regard to their ability to predict extubation success in mechanically ventilated, prematurely born infants. Immediately after extubation all infants were nursed in an appropriate amount of humidified oxygen bled into a headbox. Functional residual capacity, spontaneous tidal volume and compliance of the respiratory system were measured both within 4 h before and within 24 h after extubation. The peak inspiratory pressure and inspired oxygen concentration immediately prior to extubation were recorded. The results were related to extubation failure: requirement for continuous positive airways pressure or re-ventilation within 48 h of extubation. A total of 30 infants, median gestational age 29 weeks (range 25–33 weeks) were studied at a median postnatal age of 3 days (range 1–6 days). Extubation failed in ten infants, who differed significantly from the rest of the cohort with regard to their post extubation functional residual capacity (FRC) (median 23, range 15.6–28.7 ml/kg versus 28.6, range 18.1–39.2 ml/kg, P < 0.01) and their requirement for a higher inspired oxygen concentration post extubation (median 0.30, range 0.21–0.40 versus 0.22, range 0.21–0.36, P < 0.05). An FRC of less than 26 ml/kg post extubation had the highest positive predictive value in predicting extubation failure. Conclusion A low lung volume performed best in predicting extubation failure when compared to the results of other lung function measurements and commonly used `clinical' indices, i.e. ventilator settings. A low gestational age, however, was a better predictor of extubation failure than a low lung volume. Received: 1 November 1998 / Accepted: 16 April 1999     

Acute Kidney Injury After Cardiac Surgery in Infants and Children: Evaluation of the Role of Angiotensin-Converting Enzyme Inhibitors

Children with congenital heart disease who undergo cardiac surgery are vulnerable to acute kidney injury (AKI). This study sought to evaluate the role of angiotensin-converting enzyme (ACE) inhibitors and other nephrotoxic medications in the risk for the development of AKI in neonates and children undergoing cardiac surgery. A retrospective review of all patients younger than 2 years admitted to the cardiac intensive care unit after cardiac surgery from March 2007 to September 2008 was conducted. Patients were included in the review if they received furosemide alone or in combination with an ACE inhibitor. Creatinine clearance was calculated, and the patient’s maximal degree of AKI was classified by pRIFLE. A P value less than 0.05 was considered significant. Of the 319 patients who met the inclusion criteria, 149 (47%) received furosemide therapy alone and 170 (53%) received a combination of furosemide and an ACE inhibitor. Patients in the furosemide-only group (age, 5 months) were older than the patients who received both furosemide and an ACE inhibitor (age, 3.8 months; P = 0.024). Despite statistically higher Aristotle scores in the ACE-inhibitor group, the intraoperative variables did not differ between the two groups. Postoperatively, the ACE-inhibitor group had a decreased creatinine clearance (55.3 ml/min/1.73 m²) compared with the furosemide group (64.4 ml/min/1.73 m²; P = 0.015) and an increased incidence of a pRIFLE maximal score of “F” (odds ratio [OR], 1.75; P = 0.033). However, after adjustment for additional risk factors, no difference in the occurrence of AKI resulted (OR, 0.939; P = 0.85) when patients received an ACE inhibitor. More than half of the study population received ACE inhibitors, but this treatment was not associated with an increase in AKI.     

Faecal immunoreactive lipase: a simple diagnostic test for cystic fibrosis

The study evaluates faecal immunoreactive lipase (IRL) measurement in spot stool samples as an index of exocrine pancreatic function in patients with cystic fibrosis (CF). Stool samples (211) from 183 healthy volunteers (age range: 2 days–14.2 years) showed a normal log distribution of IRL values with a median concentration of 71.4 μg/g (range: 0.53–4160 μg/g). In 156 stool samples from 58 patients with proven CF, the median IRL concentration of 0.4 μg/g (range: 0.003–107 μg/g) was significantly lower (P < 0.001) than that of normal controls. In healthy controls, IRL levels were age related with significantly higher levels (P < 0.001) shortly after birth compared to older children. Stimulation of the exocrine pancreas by oral milk feeding resulted in a significant (P < 0.001) increase in a faecal IRL concentration. Faecal IRL concentrations in meconium were very low and of the same magnitude as in patients with CF. Conclusion Faecal IRL determination had a high diagnostic sensitivity (87%) and excellent diagnostic specificity (97%) in patients with CF. A negative test result (PV_neg: 99%) virtually excluded CF under screening conditions. Received: 20 January 1997 / Accepted in revised form: 22 August 1997     

A family with a novel TSH receptor activating germline mutation (p.Ala485Val)

Autosomal dominant nonautoimmune hyperthyroidism (ADNAH) is caused by gain of function mutations in the TSH receptor (TSHr) gene and characterized by toxic thyroid hyperplasia with a variable age of onset in the absence of thyroid antibodies and clinical symptoms of autoimmune thyroid disease in at least two generations. We report here a Turkish family with a novel TSHr gene mutation with distinct features all consistent with ADNAH. Thyroid function tests of the proband were as follows: free T3: 13.1 pg/ml (N: 1.8–4.6); free T4: 5.1 ng/dl (N: 0.9–1.7); TSH: 0.01 μIU/ml (N: 0.2–4.2); and TSH receptor antibody: 2 IU/ml (N: 0–10). A heterozygous missense mutation in exon 10 of the TSHr gene (c.1454C>T) resulting in the substitution of valine for alanine at codon 485 (p.Ala485Val) was found in the father and his son and daughter. This mutation had arisen de novo in the father. Functional studies of the novel TSHr germline mutation demonstrated a higher constitutive activation of adenyl cyclase than wild type without any effect on phospholipase C activity. In conclusion, our data indicate that gain of function germline mutations in the TSHr gene should be investigated in families with members suffering from thyrotoxicosis and progressive growth of goiter, but without clinical and biochemical evidence of autoimmune thyroid disease. In addition, patients harboring the same mutation of the TSHr gene may show wide phenotypic variability with respect to the age at onset, and severity of hyperthyroidism and thyroid growth.     

Comparison of two inspiratory: expiratory ratios during high frequency oscillation

The aim of this study was to compare gas exchange and volume delivery during high frequency oscillation at two frequently used inspiratory:expiratory (I:E) ratios: 1:2 and 1:1, other oscillatory settings being kept constant. A group of 13 infants with respiratory distress syndrome, median gestational age 28 weeks (range 23–36) and postnatal age 1 day (range 1–8) were studied. At the I:E ratio of 1:1 compared to 1:2 the median paCO₂ was lower, P < 0.05 (30 mmHg, range 22–47 vs 34 mmHg, range 27–46) and the volume delivered higher, P < 0.01 (2.6 ml/kg, range 1.2–5.6 vs 2.0 ml/kg, range 1.0–3.9). There was no significant difference in oxygenation levels at the two I:E ratios. In a related in vitro study, changing the I:E ratio from 1:2 to 1:1 increased the mean airway pressure by a median of 8.6% (range 2.9–28.1%). Conclusion Routinely maintained longer expiratory than inspiratory times during high frequency oscillation should be discouraged. Received: 6 November 1998 / Accepted: 30 March 1999     

Comparison of Calculated with Measured Oxygen Consumption in Children Undergoing Cardiac Catheterization

Our objective was to compare calculated (LaFarge) with measured oxygen consumption (VO₂) using the AS/3 TM Compact Airway Module M-CAiOVX (Datex-Ohmeda, Helsinki, Finland; AS/3 TM) in children without cardiac shunts in a prospective, observational study. VO₂ was determined at the end of the routine diagnostic and/or interventional catheterization. VO₂ was calculated according to the formula of LaFarge and Miettinen for each child and compared with the measured VO₂. Data were compared using simple regression and Bland Altman analysis. Fifty-two children aged from 0.5 to 16 years (median, 6.9 years) and weighing 3.4 to 59.4 kg (median, 22.9 kg) were investigated. Calculated VO₂ values ranged from 59.0 to 230.8 ml/min, and measured VO₂ values from 62.7 to 282.2 ml/min. Comparison of calculated versus measured VO₂ values revealed a significant correlation (r = 0.90, p < 0.0001). Bias and precision were 8.9 and 48.3 ml/min, respectively (95% limits of agreement: −39.4 to 57.2 ml/min). Comparison of calculated VO₂ in children older than 3 years (n = 41), as restricted to the formula, with measured VO₂, revealed a slightly reduced correlation (r = 0.86, p < 0.0001). Bias and precision were 10.0 and 52.5 ml/min, respectively (95% limits of agreement: –42.4 to 62.5 ml/min). We conclude that calculation of VO₂ by the LaFarge formula does not provide reliable values compared to measured values. In clinical routine, measured rather than calculated VO₂ values should be used for the estimation of cardiac output and related variables.     

The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children

Introduction  In this study, we have investigated the role of leptin, soluble leptin receptor(sOb-R), resistin, and insulin secretory dynamics in the development of hypothalamic obesity. Materials and methods  Children who had hypothalamo-pituitary tumor were divided into two groups. First group included obese-overweight (hypothalamic obese = HOB group, n = 23) and second group included non-obese children (hypothalamic non-obese = HNOB group, n = 16). Exogenously obese-overweight children (OB group, n = 22) were included as controls. Basal and second-hour serum glucose and insulin in oral glucose tolerance test (OGTT), basal serum leptin, sOb-R, resistin levels, and homeostasis model assessment (HOMA) indexes were compared between the groups. Results  Age, sex, and pubertal status were similar in study groups. Median and interquartile ranges of body mass index (BMI) z scores were similar in HOB and OB groups (2.0 (1.5–2.1) and 2.1 (1.8–2.3), respectively). Serum leptin levels corrected for BMI were highest and total leptin/sOb-R ratios (free leptin index (FLI)) tended to be higher in HOB than HNOB and OB groups, indicating leptin resistance (leptin/BMI, 4.0 (1.6–5.2), 1.5 (0.8–3.1), and 2.5 (1.8–3.5); FLI, 2.0 (0.8–3.5), 0.6 (0.3–1.2), and 1.5 (1–2.3) in HOB, HNOB, and OB groups; respectively). Serum resistin levels were similar in groups (2.6 (1.9–3.1), 2.8 (1.7–3.4), and 3.0 (2.2–3.5) ng/ml in HOB, HNOB, and OB groups, respectively). Basal serum glucose, basal and second-hour insulin levels in OGTT, and HOMA index were higher in OB group than the HOB and HNOB groups, indicating insulin resistance in simple obesity; however, increment of insulin to same glycemic load in OGTT was highest in the HOB group indicating insulin dysregulation (p < 0.05). Conclusion  Hypothalamic obesity seems to be related to both dysregulated afferent (leptin) and efferent (insulin) neural outputs through the autonomic nervous system resulting in energy storage as fat. This work has been presented in part in the free communication session of ESPE 2007 meeting (Helsinki-Finland, 2007).     

Treatment of a leaking ACE conduit with Deflux injections

Faecal leakage from the catheter conduit can be troublesome and reduces the convenience of use of antegrade continence enema (ACE). We report the results of Deflux injection treatment for leaking ACE conduits in nine patients. From 1994 to the end of 2005, 81 patients underwent a procedure for ACE [appendicostomy with wrap (AW) n = 29, appendicostomy straight (AS) n = 44, Monti-Yang ileal tube (MY) n = 5, lateral caecal flap (LCF) n = 1, caecal tube (CT) n = 1, sigmoid tube (ST) n = 1]. Nine (11%) patients (AW n = 3, AS n = 1, MY n = 3, LCF n = 1, ST n = 1) had persistent stomal leak and underwent Deflux injections of the ACE conduit. With the patients in general anaesthesia, the conduit was visualised with CH10.5 cystoscope. At the junction of the conduit and colon, 0.5–1.0 ml of Deflux was injected submucosally at three sites to create intermingling mounds in order to narrow the conduit. After the injections, a balloon catheter was left in the conduit for 3–7 days. When necessary, the injections were repeated. The result was graded as no improvement, moderate improvement, significant improvement. Nine patients underwent a median of 2 (range 1–4) injections. No major complications occurred. The results after a median follow-up of 22 (range 3–53) months from the first injection were as follows: no improvement (n = 1), moderate improvement (n = 5), significant improvement (n = 3). Repeated injection of the ACE conduit with Deflux is a low invasive method and provides moderate to good results in the majority of the patients who suffer from faecal leakage from conduit.     

Right Ventricular Dysfunction and B-Type Natriuretic Peptide in Asymptomatic Patients After Repair for Tetralogy of Fallot

Early detection of right ventricular (RV) dysfunction is essential in the assessment of patients with repaired tetralogy of Fallot (TOF). This study aimed to assess latent RV dysfunction in asymptomatic patients with TOF and to determine the predictive value of B-type natriuretic peptide (BNP). Pressure–volume loops were recorded for 16 young patients (New York Heart Association class 1 or Ross class 0; median age, 14.2 years) using the conductance catheter technique. All the patients had RV dilation secondary to pulmonary regurgitation after surgical repair of TOF. Indexes of RV function were derived at baseline level and during dobutamine infusion. Contractility was calculated by the slope of the end-systolic pressure–volume relation (ESPVR). An increase in ESPVR during dobutamine infusion was considered to indicate contractile reserve as a marker for latent RV dysfunction. The median ESPVR significantly increased from 0.32 mmHg/ml (0.13–0.72 mmHg/ml) at baseline to 0.57 mmHg/ml (0.24–1.55 mmHg/ml) during dobutamine infusion (p = 0.005). However, for five patients, no relevant increase in contractility was found, indicating impaired RV contractile reserve. There was only a weak inverse correlation between impaired contractile reserve and BNP (r = −0.28). Even asymptomatic patients with only a mildly enlarged right ventricle can have impaired RV function. Early RV dysfunction cannot be predicted accurately with BNP.     

Thalassemia and iron deficiency in a group of northeast Thai school children: relationship to the occurrence of anemia

The cross-sectional study assessed anemia, thalassemia, and hemoglobinopathies, as well as iron deficiency, among 190 northeastern Thai school children aged 10 to 11 years. The aim was to analyze the reasons for anemia among the group. Hemoglobin concentration and other hematological parameters were determined using an automated blood cell counter. Beta-thalassemia and other hemoglobinopathies were identified by high performance liquid chromatography (HPLC) analysis of hemoglobin. Alpha-thalassemia was identified by polymerase chain reaction (PCR) and related techniques. Iron deficiency was assessed using serum ferritin (SF) <20 ng/ml as indicator. Based on the WHO criteria, anemia was defined by hemoglobin (Hb) level <11.5 g/dl. Twenty five out of 190 children (13.2%; 95% CI = 8.7–18.8%) were anemic. Iron deficiency was found in only two out of 190 children (1.0%; 95% CI = 0.1–3.8%), but the two iron deficient children were not anemic. The proportion of thalassemia and hemoglobinopathies among the group was 61.1% (95% CI = 53.7–68.0%). As underlying reasons for anemia, thalassemia and hemoglobinopathies were found in 22 out of 25 (88.0%) anemic children. Beta-thalassemia and homozygous Hb E seem to be important, while this was less obvious for heterozygous α-thalassemia and heterozygous Hb E. Conclusion: The results suggest that thalassemia and hemoglobinopathies may be major contributing factors to the occurrence of anemia in this area among the children’s population.