Yeast mediates lactic acidosis suppression after antibiotic cocktail treatment in short small bowel?

During acidotic periods in a girl with a short small bowel, very high D-lactic acid concentrations were measured in blood and urine; the patient's characteristic faecal flora contained mainly lactobacilli, and during antibiotic cocktail treatment also many yeasts. In this case report we sought to understand the beneficial effect of the antibiotic cocktail. Microbiological analysis was performed in faecal samples.

Successful treatment of ARDS and severe pulmonary hypertension in a child with Bordetella pertussis infection.

Infection with Bordetella pertussis can cause severe illness with neurological and pulmonary complications in children. Pulmonary hypertension is an early sign of potentially fatal disease and can cause failure of conventional respiratory therapy in severe acute respiratory distress syndrome (ARDS). We report a 4 1/2-year-old boy with B.

Propionic acidemia revisited: a workshop report.

Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is rather limited. We present data of 49 patients with PA, which were gathered from 18 metabolic centers throughout Central Europe on the occasion of an international workshop. All patients were identified by selective metabolic screening, and 86% of them were classified as having early-onset PA owing to their presentation with clinical symptoms within the first 90 days of life.

Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid.

The term "trichothiodystrophy" (TTD) covers several autosomal recessive diseases whose diagnostic hallmark is short, brittle hair low in sulfur and cystine because of impaired synthesis of high-sulfur matrix protein. Clinical symptoms associated with TTD represent a variable range of abnormalities in organs derived from ectoderm and neuroectoderm. Important laboratory tests of the hair for the diagnosis of TTD comprise polarizing microscopy ("tiger-tail" pattern), electron microscopy, and amino acids analysis of hydrolyzed hair with a special focus on cystine.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.

The clinical spectrum of mitochondrial disease in 75 pediatric patients.

The clinical presentation of mitochondrial disorders in childhood is highly variable causing difficulties in diagnosis and management. We assessed records of 75 children (48 male, 27 female) with a biochemically and/or molecularly established mitochondrial disorder in a retrospective, multicentric study. The predominant biochemical defect was an isolated respiratory chain complex IV, followed by respiratory chain complex I, combined respiratory chain, and isolated pyruvate dehydrogenase complex (PDHC) deficiencies.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle.

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

Mitochondrial respiratory chain disorders comprise a group of perhaps several hundred different genetic diseases. Each individual disorder is rare, but collectively they account for substantial use of health care resources. However, few accurate data on prevalence are available due to problems such as variation in clinical presentation, age of onset, referral practices and limitations of diagnostic methodologies.

Lung function and symptom perception in children with asthma and their parents.

A large proportion of children with asthma are managed without recourse to specialized care, and treatment decisions are based solely on symptoms as reported by the children and their parents. We investigated 90 school-age children with the diagnosis of asthma and their accompanying parent to evaluate whether we can obtain better information by using three different means of asking for asthma symptoms: a questionnaire for children (QSR(children)), "smilies," and a visual analogue scale for children (VAS(children)). Furthermore, we analyzed the relationship between these symptom reports and lung function results.

Clinical and experimental results on cardiac troponin expression in Duchenne muscular dystrophy.

Background: Because of controversial earlier studies, the purpose of this study was to provide novel experimental and additional clinical data regarding the possible reexpression of cardiac troponin T (cTnT) in regenerating skeletal muscle in Duchenne muscular dystrophy (DMD).

Methods: Plasma from 14 patients (mean age, 7.5 years; range, 5.

Predicting survival infants ventilated with high-frequency oscillation.

Unlabelled: This retrospective study identifies factors which may predict outcome in preterm infants and infants born at term, ventilated with high-frequency oscillation (HFO). In a 16-bed neonatal and paediatric intensive care unit (level III), 58 consecutive preterm and term infants with a median gestational age of 30 (24-41) weeks and a median birth weight of 1200 (520-3660) g suffered respiratory failure and were managed with HFO as rescue therapy. Forty-nine patients (84%) received exogenous surfactant before HFO which was initiated after a median interval of 20 (1-910) hours following birth.

[SIDS prevention program in Tyrol].

In April 1994, an intervention campaign to reduce the incidence of sudden infant death syndrome (SIDS) was established in the Tyrol. The campaign was intended to increase knowledge concerning risk factors for SIDS in the general community and to improve individual care for infants at risk. In contrast to interventional programmes in other federal states of Austria (i.

Oral creatine supplementation in Duchenne muscular dystrophy: a clinical and 31P magnetic resonance spectroscopy study.

The decrease in intracellular creatine concentration in Duchenne muscular dystrophy may contribute to the deterioration of intracellular energy homeostasis and may thus be one of the factors aggravating muscle weakness and degeneration. Oral creatine supplementation should have potential in alleviating the clinical symptoms. To test this hypothesis, creatine was orally administered over a period of 155 days to a 9-year-old patient with Duchenne muscular dystrophy.

Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I.

A 21-month-old girl suffering from tyrosinaemia type I and undergoing treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC) presented with pruritus which rapidly ceased with administration of high doses of ursodeoxycholic acid. Determination of plasma bile acids revealed clearly elevated levels both in samples taken before and after the onset of NTBC therapy, thus indicating, that the increase was not related to the administration of this drug. This result is corroborated by data from the first patient's newborn sister, diagnosed with the same disease, who showed elevated plasma bile acid concentrations in all samples examined, except for the cord plasma.

Odd-numbered long-chain fatty acids in propionic acidaemia.

Unlabelled: In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five patients with early onset PA and present their clinical outcome. After extraction from erythrocyte membrane lipids and esterification, fatty acids were analysed by capillary column gas chromatography.

Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.

Argininosuccinic acid synthetase deficiency (ASD) is a rare disorder of urea cycle metabolism, with pronounced citrullinemia and orotic aciduria being characteristic biochemical features. To further investigate the role of plasma orotic acid and its possible use for monitoring the metabolic status in ASD, we determined plasma orotic acid, amino acid, and ammonium levels in plasma samples collected over a period of 3 years from a patient who is now 8 years of age. Orotic acid plasma concentrations varied widely from less than 1 micromol/l to more than 60 micromol/l.

Complications of percutaneous insertion of Hickman catheters in children.

Background/purpose: The aim of this study was a retrospective evaluation of insertion and management complications of percutaneous Hickman catheter lines in pediatric patients to investigate whether the complication rate is acceptable in comparison with other insertion methods or other age groups.

Methods: Over a period of 22 months a total of 27 Hickman catheters were inserted in 22 pediatric patients (20 oncological, 2 nononcological; age 6 weeks to 17.5 years).

Different clinical aspects of debrancher deficiency myopathy.

Objective: To characterise the main clinical phenotypes of debrancher deficiency myopathy and to increase awareness for this probably underdiagnosed disorder.

Methods: The diagnosis of debrancher deficiency was established by laboratory tests, EMG, and muscle and liver biopsy.

Results: Four patients with debrancher deficiency myopathy were identified in the Tyrol, a federal state of Austria with half a million inhabitants.

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme located in the mitochondrial matrix. Mutations in the PCCA and PCCB genes, which encode the a and b subunits of this heteropolymer, result in propionic acidemia (PA). We report the molecular analysis of b-deficient patients from Spain and Austria.

Normal ascorbic acid in cerebrospinal fluid of patients with infantile neuronal ceroid-lipofuscinosis.

Neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders. There is much evidence for a role of peroxidation processes in the pathogenesis of NCL, although this would certainly be indirect. Reduced total antioxidant activity of cerebrospinal fluid (CSF) has been reported in NCL.