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1.  Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism 
BMC Pediatrics  2002;2:12.
Background
Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period.
Case presentation
We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance.
Conclusions
This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease.
doi:10.1186/1471-2431-2-12
PMCID: PMC140035  PMID: 12507404
Mitochondrial dysfunction; Ventricular tachycardia; Reye-like syndrome; 3-Methylglutaconic aciduria
2.  Hypnosis in pediatrics: applications at a pediatric pulmonary center 
BMC Pediatrics  2002;2:11.
Background
This report describes the utility of hypnosis for patients who presented to a Pediatric Pulmonary Center over a 30 month period.
Methods
Hypnotherapy was offered to 303 patients from May 1, 1998 – October 31, 2000. Patients offered hypnotherapy included those thought to have pulmonary symptoms due to psychological issues, discomfort due to medications, or fear of procedures. Improvement in symptoms following hypnosis was observed by the pulmonologist for most patients with habit cough and conversion reaction. Improvement of other conditions for which hypnosis was used was gauged based on patients' subjective evaluations.
Results
Hypnotherapy was associated with improvement in 80% of patients with persistent asthma, chest pain/pressure, habit cough, hyperventilation, shortness of breath, sighing, and vocal cord dysfunction. When improvement was reported, in some cases symptoms resolved immediately after hypnotherapy was first employed. For the others improvement was achieved after hypnosis was used for a few weeks. No patients' symptoms worsened and no new symptoms emerged following hypnotherapy.
Conclusions
Patients described in this report were unlikely to have achieved rapid improvement in their symptoms without the use of hypnotherapy. Therefore, hypnotherapy can be an important complementary therapy for patients in a pediatric practice.
doi:10.1186/1471-2431-2-11
PMCID: PMC138812  PMID: 12460456
Anxiety; asthma; habit cough; hypnosis; shortness of breath; vocal cord dysfunction
3.  Safety of a new extensively hydrolysed formula in children with cow's milk protein allergy: a double blind crossover study 
BMC Pediatrics  2002;2:10.
Background
Formulae for infants with cow's milk protein allergy (CMA) should be based on extensively hydrolysed protein. 'Extensively' however is not strictly defined. Differences in molecular weight and peptide chain length may affect its clinical outcome. We studied the safety of a new extensively hydrolysed casein based formula (Frisolac Allergycare®: FAC) for children with IgE mediated CMA.
Methods
Thirty children, aged 1.5 – 14.8 years old (median 4.9 years) with persistent CMA were enrolled in this double-blind reference product (Nutramigen®: NUT) controlled crossover study. All had positive skin prick tests (SPT) and IgE mediated allergy, showing immediate reactions after ingestion of small amounts of milk. Twenty-five children also had positive radio allergen sorbent tests (RAST) to cow's milk. Formulae provided consisted of 80% elementary formula in combination with 20% reference or test product. Crossover periods lasted for two weeks. From both products molecular weight (MALDI-TOF method and HPLC) and peptide chain length distribution (adapted Edman degradation) were determined.
Results
Maximum molecular weights of NUT and FAC are 2.1 and 2.56 kDa, respectively. The contribution of free amino acids and small peptides <0.5 kDa is 46% for FAC and 53% for NUT. About 50% of the protein fraction of both products consists of peptides longer than four amino acids. Three children did not complete the study. The other children all tolerated FAC very well; no adverse reactions were reported.
Conclusions
The new extensively hydrolysed casein-based formula (FAC) can safely be used in children with IgE mediated cow's milk allergy.
doi:10.1186/1471-2431-2-10
PMCID: PMC130212  PMID: 12379156
4.  Acyclovir for treating varicella in otherwise healthy children and adolescents: a systematic review of randomised controlled trials 
BMC Pediatrics  2002;2:9.
Background
Acyclovir has the potential to shorten the course of chickenpox which may result in reduced costs and morbidity. We conducted a systematic review of randomised controlled trials that evaluated acyclovir for the treatment of chickenpox in otherwise healthy children.
Methods
MEDLINE, EMBASE, and the Cochrane Library were searched. The reference lists of relevant articles were examined and primary authors and Glaxo Wellcome were contacted to identify additional trials. Two reviewers independently screened studies for inclusion, assessed study quality using the Jadad scale and allocation concealment, and extracted data. Continuous data were converted to a weighted mean difference (WMD). Overall estimates were not calculated due to differences in the age groups studied.
Results
Three studies were included. Methodological quality was 3 (n = 2) and 4 (n = 1) on the Jadad scale. Acyclovir was associated with a significant reduction in the number of days with fever, from -1.0 (95% CI -1.5,-0.5) to -1.3 (95% CI -2.0,-0.6). Results were inconsistent with respect to the number of days to no new lesions, the maximum number of lesions and relief of pruritis. There were no clinically important differences between acyclovir and placebo with respect to complications or adverse effects.
Conclusion
Acyclovir appears to be effective in reducing the number of days with fever among otherwise healthy children with chickenpox. The results were inconsistent with respect to the number of days to no new lesions, the maximum number of lesions and the relief of itchiness. The clinical importance of acyclovir treatment in otherwise healthy children remains controversial.
doi:10.1186/1471-2431-2-9
PMCID: PMC130054  PMID: 12356336
5.  The role of lumbar puncture in children with suspected central nervous system infection 
BMC Pediatrics  2002;2:8.
Background
The use of the lumbar puncture in the diagnosis of central nervous system infection in acutely ill children is controversial. Recommendations have been published but it is unclear whether they are being followed.
Methods
The medical case notes of 415 acute medical admissions in a children's hospital were examined to identify children with suspected central nervous system infection and suspected meningococcal septicaemia. We determined whether lumbar punctures were indicated or contraindicated, whether they had been performed, and whether the results contributed to the patients' management.
Results
Fifty-two children with suspected central nervous system infections, and 43 with suspected meningococcal septicaemia were identified. No lumbar punctures were performed in patients with contraindications, but only 25 (53%) of 47 children with suspected central nervous system infection and no contraindications received a lumbar puncture. Lumbar puncture findings contributed to the management in 18 (72%) of these patients, by identifying a causative organism or excluding bacterial meningitis.
Conclusion
The recommendations for undertaking lumbar punctures in children with suspected central nervous system infection are not being followed because many children that should receive lumbar punctures are not getting them. When they are performed, lumbar puncture findings make a useful contribution to the patients' management.
doi:10.1186/1471-2431-2-8
PMCID: PMC126268  PMID: 12350236
6.  The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa 
BMC Pediatrics  2002;2:7.
Background
The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region.
Methods
Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. Patients were screened for the common S135L and Q188R transferase gene mutations, using PCR-based assays. Screening for the S135L mutation in black newborns was used to estimate the carrier rate for galactosemia in black South Africans.
Results
A positive diagnosis of galactosemia was made in 17 patients between the years 1980 to 2001. All had very low or absent galactose-1-phosphate uridyltransferase (GALT) activity, and normal galactokinase levels. The mean age at diagnosis was 5.1 months (range 4 days to 6.5 months). A review of 9 patients showed that hepatomegaly (9/9), and splenomegaly, failure to thrive, developmental delay, bilateral cataracts (6/9) were the most frequent features at diagnosis. Six had conjugated hyperbilirubinemia. Four experienced invasive E. coli infection before diagnosis. Ten patients were submitted to DNA analysis. All 4 black patients and 2 of mixed extraction were homozygous for the S135L allele, while all 3 white patients were homozygous for the Q188R allele. The remaining patient of mixed extraction was heterozygous for the Q188R allele. The estimated carrier frequency of the S135L mutation in 725 healthy black newborns was 1/60.
Conclusions
In the absence of newborn screening the delay in diagnosis is most often unacceptably long. Also, carrier frequency data predict a galactosemia incidence of approximately 1/14 400 for black newborns in the Cape Metropole, which is much higher than the current detection rate. It is thus likely that many patients go undetected.
doi:10.1186/1471-2431-2-7
PMCID: PMC126267  PMID: 12350230
7.  Adenovirus type 7 associated with severe and fatal acute lower respiratory infections in Argentine children 
BMC Pediatrics  2002;2:6.
Background
Adenoviruses are the second most prevalent cause of acute lower respiratory infection of viral origin in children under four years of age in Buenos Aires, Argentina. The purpose of this study was to analyze the clinical features and outcome of acute lower respiratory infection associated with different adenovirus genotypes in children.
Methods
Twenty-four cases of acute lower respiratory infection and adenovirus diagnosis reported in a pediatric unit during a two-year period were retrospectively reviewed. Adenovirus was detected by antigen detection and isolation in HEp-2 cells. Adenovirus DNA from 17 isolates was studied by restriction enzyme analysis with Bam HI and Sma I.
Results
Subgenus b was found in 82.3% of the cases, and subgenus c in 17.7%. Within subgenus b, only genotype 7 was detected, with genomic variant 7h in 85.7% (12/14) and genomic variant 7i in 14.3% (2/14).
Mean age was 8.8 ±; 6 months, and male to female ratio was 3.8: 1. At admission, pneumonia was observed in 71% of the cases and bronchiolitis in 29%. Malnutrition occurred in 37% of the cases; tachypnea in 79%; chest indrawing in 66%; wheezing in 58%; apneas in 16%; and conjunctivitis in 29%. Blood cultures for bacteria and antigen detection of other respiratory viruses were negative.
During hospitalization, fatality rate was 16.7% (4 /24). Of the patients who died, three had Ad 7h and one Ad 7i. Thus, fatality rate for adenovirus type 7 reached 28.6% (4/14).
Conclusions
These results show the predominance of adenovirus 7 and high lethality associated with the genomic variants 7h and 7i in children hospitalized with acute lower respiratory infection.
doi:10.1186/1471-2431-2-6
PMCID: PMC126266  PMID: 12184818
Severe lower respiratory infections; children under 2 years of age; adenovirus genome type 7h; case lethality
8.  Salivary testosterone levels in preadolescent children 
BMC Pediatrics  2002;2:5.
Background
Saliva reflects the plasma free fraction of testosterone which is biologically active, and available for uptake by tissues. Testosterone concentration in saliva, though differing slightly from the concentration of unbound testosterone in serum, is in good correlation with the latter, indicating that salivary testosterone provides a reliable method for determination of serum free testosterone. The study aimed to investigate salivary testosterone levels and their changes in preadolescent children and to study sexual dimorphism.
Methods
Testosterone levels were determined in 203 healthy preadolescent children (77 girls and 126 boys) from saliva samples by radioimmunoassay. Sampling was performed once a year with respect to circadian and seasonal fluctuations of testosterone. Data were statistically analyzed by Statgraphic software.
Results
Mean salivary testosterone concentrations (± SD) were 0.038 ± 0.012 nmol/L and 0.046 ± 0.026 nmol/L for girls and boys, with the medians 0.035 nmol/L and 0.041 nmol/L, respectively. Statistical analysis did not prove changes in salivary testosterone concentrations in the preadolescent period of life, with an exception of the insignificant fall at the age of 7 years, and an insignificant rise at the age of 9 years in girls.
Conclusions
Generally it can be concluded that salivary testosterone levels in our prepubertal subjects remained stable. There was no significant increase of salivary testosterone levels from the age of 6 until the age of 9 in both sexes. Sexual dimorphism in salivary testosterone levels was proved with significantly higher (p = 0.009) salivary testosterone levels in boys than in girls.
doi:10.1186/1471-2431-2-5
PMCID: PMC116575  PMID: 12057024
9.  Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis 
BMC Pediatrics  2002;2:4.
Background
Disaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48). Usually, infants with SI deficiency come to attention because of chronic diarrhea and nutritional evidence of malabsorption.
Case Presentation
We describe an atypical presentation of this disorder in a 10-month-old infant. In addition to chronic diarrhea, the child displayed severe and chronic hypercalcemia, the evaluation of which was negative. An apparently coincidental right orbital hemangioma was detected. Following identification of the SI deficiency, an appropriately sucrose-restricted, but normal calcium diet regimen was instituted which led to cessation of diarrhea, substantial weight gain, and resolution of hypercalcemia.
Conclusions
This case illustrates that, similar to congenital lactase deficiency (Mendelian Interance in Man database: *223000, Alactasia, Hereditary Disaccharide Intolerance Type II), hypercalcemia may complicate neonatal Sucrase-Isomaltase deficiency. Hypercalcemia in the presence of chronic diarrhea should suggest disaccharide intolerance in young infants.
doi:10.1186/1471-2431-2-4
PMCID: PMC111192  PMID: 12014995
10.  Assessing the quality of reports of systematic reviews in pediatric complementary and alternative medicine 
BMC Pediatrics  2002;2:3.
Objective
To examine the quality of reports of complementary and alternative medicine (CAM) systematic reviews in the pediatric population. We also examined whether there were differences in the quality of reports of a subset of CAM reviews compared to reviews using conventional interventions.
Methods
We assessed the quality of reports of 47 CAM systematic reviews and 19 reviews evaluating a conventional intervention. The quality of each report was assessed using a validated 10-point scale.
Results
Authors were particularly good at reporting: eligibility criteria for including primary studies, combining the primary studies for quantitative analysis appropriately, and basing their conclusions on the data included in the review. Reviewers were weak in reporting: how they avoided bias in the selection of primary studies, and how they evaluated the validity of the primary studies. Overall the reports achieved 43% (median = 3) of their maximum possible total score. The overall quality of reporting was similar for CAM reviews and conventional therapy ones.
Conclusions
Evidence based health care continues to make important contributions to the well being of children. To ensure the pediatric community can maximize the potential use of these interventions, it is important to ensure that systematic reviews are conducted and reported at the highest possible quality. Such reviews will be of benefit to a broad spectrum of interested stakeholders.
doi:10.1186/1471-2431-2-3
PMCID: PMC99047  PMID: 11914146
11.  Assessing the quality of reports of randomized trials in pediatric complementary and alternative medicine 
BMC Pediatrics  2002;2:2.
Objective
To evaluate the quality of reports of complementary and alternative medicine (CAM) randomized controlled trials (RCTs) in the pediatric population. We also examined whether there was a change in the quality of reporting over time.
Methods
We used a systematic sample of 251 reports of RCTs that used a CAM intervention. The quality of each report was assessed using the number of CONSORT checklist items included, the frequency of unclear allocation concealment, and a 5-point quality assessment instrument.
Results
Nearly half (40%) of the CONSORT checklist items were included in the reports, with an increase in the number of items included. The majority (81.3%) of RCTs reported unclear allocation concealment with no significant change over time. The quality of reports achieved approximately 40% of their maximum possible total score as assessed with the Jadad scale with no change over time. Information regarding adverse events was reported in less than one quarter of the RCTs (22%) and information regarding costs was mentioned in only a minority of reports (4%).
Conclusions
RCTs are an important tool for evidence based health care decisions. If these studies are to be relevant in the evaluation of CAM interventions it is important that they are conducted and reported with the highest possible standards. There is a need to redouble efforts to ensure that children and their families are participating in RCTs that are conducted and reported with minimal bias. Such studies will increase their usefulness to a board spectrum of interested stakeholders.
doi:10.1186/1471-2431-2-2
PMCID: PMC99046  PMID: 11914145
12.  High incidence of Epstein-Barr virus, cytomegalovirus and human herpesvirus 6 infections in children with cancer 
BMC Pediatrics  2002;2:1.
Background
A prospective single-center study was performed to study infection with lymphotropic herpesviruses (LH) Epstein-Barr virus (EBV), cytomegalovirus (CMV) and human herpesvirus 6 (HHV-6) in children with cancer.
Methods
The group of 186 children was examined for the presence of LH before, during and 2 months after the end of anticancer treatment. Serology of EBV and CMV was monitored in all children, serology of HHV-6 and DNA analysis of all three LH was monitored in 70 children.
Results
At the time of cancer diagnosis (pre-treatment), there was no difference between cancer patients and age-matched healthy controls in overall IgG seropositivity for EBV (68.8% vs. 72.0%; p = 0.47) and CMV (37.6% vs. 41.7%; p = 0.36). During anticancer therapy, primary or reactivated EBV and CMV infection was present in 65 (34.9%) and 66 (35.4%) of 186 patients, respectively, leading to increased overall post-treatment IgG seropositivity that was significantly different from controls for EBV (86.6% vs. 72.0%; p = 0.0004) and CMV (67.7% vs. 41.7%; p < 0.0001). Overall pre-treatment IgG seropositivity for HHV-6 was significantly lower in patients than in controls (80.6% vs. 91.3%; p = 0.0231) which may be in agreement with Greaves hypothesis of protective effect of common infections in infancy to cancer development. Primary or reactivated HHV-6 infection was present in 23 (32.9%) of 70 patients during anticancer therapy leading to post-treatment IgG seropositivity that was not significantly different from controls (94.3% vs. 91.3%; p = 0.58). The LH infection occurred independently from leukodepleted blood transfusions given. Combination of serology and DNA analysis in detection of symptomatic EBV or CMV infection was superior to serology alone.
Conclusion
EBV, CMV and HHV-6 infections are frequently present during therapy of pediatric malignancy.
doi:10.1186/1471-2431-2-1
PMCID: PMC65040  PMID: 11818028

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