A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders among Caucasian children. The G985 allele represented 90% of all the variant alleles of the MCAD gene in an extensive series of retrospective studies.

The hypogastric and thirteenth thoracic ganglia of the rat: effects of age on the neurons and their extracellular environment.

Morphometric analyses of the neurons and microvessels of perfusion-fixed hypogastric (HG) and 13th thoracic (T13) ganglia have been performed in male Wistar rats aged 4, 24 and 30 mo. Estimations of HG volume employing the Cavalieri principle have also been performed and showed that the size of the aged HG is increased by 42%. Routine histological staining of the ganglia with Masson's trichrome indicated that this may be due to the increased amount of interstitial connective tissue which was apparent in the aged animals.

Age-related changes in the morphology of preganglionic neurons projecting to the rat hypogastric ganglion.

The aim of this study was to investigate age-related changes in preganglionic neurons of the lumbar and sacral spinal cord of the male rat that may underlie impaired control of the urogenital system in old age. Preganglionic sympathetic and parasympathetic neurons of 4- and 24-month-old rats were identified by retrograde axonal tracing with cholera toxin subunit-B followed by immunocytochemistry. Labelled preganglionic neurons were scanned on the confocal microscope.

Neurons and microvessels of the nodose (vagal sensory) ganglion in young adult and aged rats: morphometric and enzyme histochemical studies.

The neuron cell bodies and microvessels in sections of the nodose (vagal sensory) ganglion (NG) of Wistar rats of 4- and 24-months of age have been examined morphometrically and by quantitative enzyme histochemistry. The range of neuronal somata areas was similar at the two ages and distributed unimodally, ranging approximately from 200-1500 microns 2 with the largest somata occurring in the older age group. The range of microvessel diameters was also comparable but the largest microvessels were seen in the older animals.

Preservation of the cervical vagus nerve in aged rats: morphometric and enzyme histochemical evidence.

The vagus nerve trunk, sampled at a mid-cervical level, has been analysed quantitatively by light and electron microscopy principally with respect to the numbers and sizes of the myelinated and unmyelinated axon populations in Wistar rats of 4, 24 and 30 months. No significant differences in total myelinated axon numbers were seen over the age range in counts made on light microscope montages of the entire cross-section of the nerve. The overall histological organisation and appearance of the nerve trunk did not change with age but age-associated alterations in the ultrastructure of some myelinated fibres and their Schwann cells was seen.

Cerebrospinal fluid concentrations of leukotriene B4 in bacterial meningitis.

We investigated whether leukotriene B4 (LTB4), a granulocyte inflammatory mediator, is detectable in cerebrospinal fluid using a high performance liquid chromatographic method. In non-pleocytotic cerebrospinal fluid (n = 5) and in cerebrospinal fluid from children with aseptic meningitis (n = 8), LTB4 concentrations were below the detection limit (< 0.2 ng ml-1).

Age and sex do not affect the volume, cell numbers, or cell size of the suprachiasmatic nucleus of the rat: an unbiased stereological study.

The circadian rhythms displayed by numerous biological functions are known to be sex specific and affected by aging. It has not been settled yet whether the sex- and age-related characteristics of circadian rhythms derive from changes in the anatomy of the suprachiasmatic nucleus. To shed light on these issues, we applied unbiased stereological techniques to estimate the volume of the suprachiasmatic nucleus as well as the total number of its cells and the mean volume of their somata and nuclei in progressively older groups of male and female Wistar rats (aged 1, 6, 12, 18, 24, and 30 months).

Decrease in synapsin I staining in the hypogastric ganglion of aged rats.

The rat hypogastric ganglion (HG) contains populations of both sympathetic and parasympathetic postganglionic neurons which supply the lower pelvic viscera. These neuron populations can be identified by tyrosine hydroxylase (TH) and NADPH-diaphorase (NADPH-d) staining, respectively. The effects of age on the distribution of synapsin I, a nerve terminal marker, in relation to these neuron populations has been investigated in young adult and aged rats.

Survival of the population of NADPH-diaphorase stained myenteric neurons in the small intestine of aged rats.

NADPH-diaphorase staining was performed on wholemount preparations of the muscularis externa (which includes the myenteric plexus) of the rat small intestine taken from animals of 4, 24 and 30 months of age. A population of NADPH-diaphorase-stained neuron cell bodies was observed predominantly in the ganglia of the plexus. There were also many stained axons throughout the plexus and in the muscularis at all ages.

Sympathetic and sensory innervation of the urinary tract in young adult and aged rats: a semi-quantitative histochemical and immunohistochemical study.

The sympathetic innervation of the urinary tract of young adult (4 months) and aged (24+ months) rats has been examined by glyoxylic acid-induced fluorescence for the detection of noradrenaline and by immunofluorescence using antisera against tyrosine hydroxylase (TH) and neuropeptide Y (NPY). Immunostaining for calcitonin gene-related peptide (CGRP), known to be present in pelvic sensory nerves, was also performed. Semi-quantitative estimations of nerve densities were made of noradrenergic and peptidergic fibres innervating the smooth musculature of the ureter, bladder and urethra, and of the urinary tract vasculature.

Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.

We have developed methods for the measurement of the medium-chain fatty acids octanoate, decanoate and cis-4-decenoate and the acylglycines n-hexanoylglycine (HG) and 3-phenylpropionylglycine (PPG) in blood spots using gas chromatography and mass spectrometry. Normal ranges were obtained for octanoate and decanoate. HG, PPG and cis-4-decenoic acid were not detected in control blood spots.

Urinary excretion of epidermal growth factor and transforming growth factor-alpha in breast-fed and formula-fed infants.

Urinary epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) concentrations were determined by radioimmunoassay in a longitudinal study analyzing 348 24-h urine specimens of 32 infants (16 breast-fed, 16 formula-fed) during the first 16 weeks of life. EGF excretion showed a statistically significant increase from 6.0 +/- 2.

Localisation of NADPH-diaphorase and acetylcholinesterase activities and of tyrosine hydroxylase and neuropeptide-Y immunoreactivity in neurons of the hypogastric ganglion of young adult and aged rats.

Neurons in the hypogastric (main pelvic) ganglia of 4- and 24-month-old male rats were investigated by enzyme histochemical methods for NADPH-diaphorase (NADPH-d) and acetylcholinesterase (AChE) activities and by immunofluorescence for tyrosine hydroxylase (TH) and neuropeptide Y (NPY) immunoreactivities. Systematic random sampling of standard sized areas of ganglion parenchyma revealed a content (per unit area) of 40.9 +/- 8.

[Williams-Beuren syndrome in combination with celiac disease].

At age 5 years coeliac disease was diagnosed in a boy with Williams-Beuren syndrome. Gastrointestinal symptoms may be similar in both disorders. Short stature, not only in comparison to the normal population but also in comparison to syndrome-specific growth standards, and failure to thrive led to the diagnosis coeliac disease.

An investigation into the extrinsic blood supply and the microvasculature of the rat stellate ganglion.

The extrinsic supply of the rat stellate ganglion (STG) has been investigated by histological examination of the vasculature following india ink injections by a variety of routes. The main arterial supply to the STG is derived from an un-named branch of the pericardiophrenic branch of the costocervical trunk of the subclavian artery but a small contribution is made to the rostral part of the STG from microvessels running in the cervical sympathetic trunk. Similarly there are microvessels running in the nerve trunks connected to the STG and these, together with those in the cervical sympathetic trunk, can perfuse the STG when the subclavian artery is occluded.

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

Sixty-one plasma samples from patients with inborn errors of fatty acid oxidation and from control subjects were analyzed in a blinded fashion for acylcarnitines by the radioisotopic exchange-high-performance liquid chromatographic method. All samples from patients with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency (n = 30), some of which had been stored in a frozen state for several years, showed a prominent octanoylcarnitine peak. In all blood spots from 11 patients with MCAD deficiency, octanoylcarnitine was also detected.

Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.

We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal.

Quantitative analysis of the cervical sympathetic trunk in young adult and aged rats.

The cervical sympathetic trunk of rats aged 4 and 24 months was examined quantitatively with particular reference to the predominating population of unmyelinated axons by using electron microscope photomontages of transverse sections of the entire nerve trunk. No obvious neuropathological or degenerative changes were observed in animals of either age. At 24 months the mean diameter of unmyelinated axons, the mean number of axons/100 microns2 and the mean number of axons associated with individual Schwann cell units was significantly greater than in the young adult animals.