This paper describes EEG and clinical findings resulting from a follow-up investigation in a group of 18 males with fragile X syndrome, in whom a characteristic paroxysmal EEG pattern was previously described. The following types of evolution were observed: (1) disappearance of the pattern (with a gradual lowering of the amplitude of spikes and in some cases with asynchrony between the two hemispheres); (2) disappearance of the quasi-rhythmic centrotemporal spikes and persistence of bisynchronous polyspike and wave complexes in the temporo-parieto-frontal regions; and (3) persistence of the previously observed pattern. These results confirm the already observed similarity between this condition and the benign childhood epilepsy with centrotemporal spikes, also from the maturational point of view; on the other hand, they also indicate some difference (i.e., mental retardation, slow background EEG activity, brain atrophy). Moreover, these findings are encouraging for the possible development of research in the field of molecular genetics in epilepsy, because they provide a precise site of investigation on the X chromosome.

Adolescent↗

PubMedDate not supplied

Bioelectrical impedance analysis predicts outcome in patients with suspected bacteremia.

Fluid shifts from intracellular to extracellular water (ICW to ECW) are a feature of sepsis, caused by increased vascular permeability and cell catabolism. Changes in ECW and total body water (TBW) were assessed in a prospective observational study of patients with bacteremia by a bedside technique, and its prognostic impact determined. In 78 hospital patients with fever, the resistance ratio (Rinf/RO) and estimated ECW/TBW ratio from multifrequency bioelectrical impedance analysis, and f1p4m albumin concentration were measured. Rinf/RO and ECW/TBW ratios decreased from day 0 to 2 in patients with significant bacteremia (n = 31), but not in patients with doubtful or negative blood cultures (n = 22 and 25). Increased Rinf/RO at baseline, and further increase of ECW/TBW from day 0 to 2, were associated with lower rate of recovery after 1 week and with higher mortality. Baseline Rinf/RO above the median (0.75) had positive and negative predictive values of 0.31 and 0.95 for death. This prognostic effect was independent of underlying disease and blood culture result in a multivariate model. Hypoalbuminemia at baseline was predictive of outcome, but changes in albumin from day 0 to 2 were unrelated to blood culture results or outcome. In patients with bacteremia, fluid shifts from intracellular to extracellular water occur early, are rapidly reversible by antibiotic treatment but are associated with adverse prognosis. Bioelectrical impedance deserves further study as a tool for bedside monitoring of patients with bacteremia.

Adult↗

PubMedDate not supplied

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome.

The Kohlschütter syndrome is a very uncommon inherited disorder characterized by epilepsy, dementia, and yellow teeth. We present two new patients who contribute to an increase in our knowledge of the clinical phenotype of this syndrome. They are two siblings born from consanguineous parents. Dysmorphological signs, such as broad thumbs, are reported for the first time in association with this syndrome, together with neurophysiological peculiarities (occipital evoked spikes) and hypoplasia of the cerebellar vermis. The authors suggest that ethnic factors might be important and conclude that the clinical phenotype of the Kohlschütter syndrome is still in need of further characterization.

Cerebellum↗

PubMedDate not supplied

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua.

Epilepsia partialis continua (EPC) has previously been reported in only two patients with Leigh syndrome (LS). We report here a subject in whom LS and partial deficit of cytochrome c oxidase (COX) were associated with EPC. Epilepsy in this subject appeared when neurologic impairment was clearly evident and MRI showed cortical lesions typically associated with congenital lactic acidosis.

Acidosis, Lactic↗

PubMedDate not supplied

The use of glutamine in the treatment of gastrointestinal disorders in man.

The human gastrointestinal tract (GIT) is a major site of glutamine utilisation accounting for more than half of the net splanchnic utilisation (approximately 15 g/day) of glutamine obtained from the systemic circulation. Dietary glutamine (approximately 5 g/day) is less important than circulating glutamine, especially in disease conditions associated with substantial reduction in food intake. Glutamine has multiple effects on the structure and function of the GIT, and effects in improving morbidity and mortality in animal models of GIT damage has led to a series of studies in man, which have produced variable results. Glutamine administration to treat mucositis of the upper GIT (mouth, oesophagus) due to cytotoxic drug therapy, has produced no evidence of benefit. Early studies suggested improved healing, as do recent studies of small intestinal mucositis resulting from chemotherapy. Investigations in colitis are lacking although in experimental rat models of colitis no benefit has been reported. Multiple explanations can be put forward to explain the overall results, including the GIT distribution of enzymes involved in glutamine metabolism. Apart from the lower stomach in man (upper stomach in the rat) there is very little weak activity of glutamine synthetase, suggesting that the gut derives glutamine formed in other tissues and from the diet. The activity of glutaminase, which is key flux generating enzyme involved in glutaminolysis is very weak in mucosa with stratified squamous epithelium (oesophagus), where intermediate in the same intestine, and highest in the small intestinal mucosa which accounts for about 80% of the total glutaminase in the entire human GIT mucosa.

Administration, Oral↗

PubMedDate not supplied

Prediction of body composition in elderly men over 75 years of age.

A comprehensive number of body composition predictions (involving weight, height, skinfold thicknesses, bioelectrical impedance and near-infrared interactance-NIRI) were evaluated against total body water (TBW from isotope dilution), in 23 randomly selected men over 75 years old, and dual-energy X-ray absorptiometry (DXA), in 15 volunteers from this group. Comparisons were made between anthropometric and impedance methods for estimating limb muscle mass (obtained using DXA). Bias and 95% limits of agreement between measured TBW and DXA estimates were -2.1 kg and 3.1 kg, respectively (for fat, 5.4% and 6.1% body weight). Agreement between TBW predictions and reference measurements was remarkably variable, irrespective of whether TBW was predicted from TBW-specific equations or indirectly from estimates of fat or fat-free mass: for predictions using anthropometry, bias ranged from -4.7 kg to 1.6 kg and 95% limits of agreement from bias +/- 3.8 kg to +/- 5.0 kg; using impedance, bias was -8.8 kg to 3.2 kg and 95% limits of agreement were bias +/- 3.6 kg to +/- 7.8 kg; corresponding values for NIRI were -5.3 kg and +/- 5.4 kg. Although some non-age-specific equations appeared valid, age-specific equations generally predicted TBW better. Limb muscle mass (DXA) was predicted better using the segmental impedance method, from indices of limb muscle area (r = 0.76; SEE = 1.9 kg) and volume (r = 0.86; SEE = 1.6 kg), than by anthropometry alone (r = 0.61 and 0.71; SEE = 2.3 kg and 2.1 kg, respectively). In conclusion, some body composition predictions are unacceptable (at least for TBW) in older men, and care is recommended when selecting from these methods or equations. Also, the segmental impedance method is as good as, if not better than, anthropometry alone in predicting limb muscle mass (DXA) in older men.

Absorptiometry, Photon↗

PubMedDate not supplied

A new case of trichothiodystrophy associated with autism, seizures, and mental retardation.

We report a patient with trichothiodystrophy associated with autism, mental retardation, and seizures. The diagnosis was based on the presence of brittle hair, with a marked decrease in sulfur-rich amino acid content, and characteristic features such as "tiger tail" under polarizing microscopy and trichoschisis under scanning electron microscopy. Macroscopic alterations were mostly observed in the frontal and occipital hair, with only microscopic abnormalities in the occipital hair. We consider this an unusual expression of this disease.

Adolescent↗

PubMedDate not supplied

Effect of glutamine infusions on glutamine concentration and protein synthetic rate in rat muscle.

Studies were undertaken in sedated and unsedated rats to raise the depleted intramuscular glutamine concentrations produced by aseptic abscesses, and to assess the effect of this change on muscle protein fractional synthetic rate. Age- and weight-matched control animals were also included in the study. The rats were infused for up to 5 hours via the lateral tail vein with 1 mL/100 g of body weight per hour of either saline or 0.22 M glutamine. The intramuscular concentration of glutamine (mmol/L of intracellular water), which was reduced by 45% after turpentine in the sedated animals, was restored to within 79% of control values, but the muscle fractional protein synthetic rate, which was also reduced by 41% in these animals, was not improved by the glutamine infusions. Glutamine administration also failed to increase muscle protein synthesis in unsedated rats and in those supplemented with a liquid meal. It is concluded that acute elevations in muscle glutamine concentrations do not increase protein synthesis in this tissue and that therefore glutamine is unlikely to be a mediator in the control of muscle protein synthesis under these circumstances.

Animals↗

PubMedDate not supplied

Effect of dietary restriction on the response of alpha 2-macroglobulin during an acute phase response.

The effects of aseptic abscesses induced by subcutaneous injections of turpentine (5 mL/kg body weight) on the acute-phase protein response (alpha 2-macroglobulin, alpha 2-M) and on the circulating albumin and total protein concentrations were assessed in young rats that were made malnourished by restricting dietary intake to an extent that either impaired growth (60% of normal intake) or caused weight loss (0% to 45% of normal intake). The measurements were obtained daily during a period of 4 days in malnourished rats that had lost about 25% body weight but had maintained a stable weight thereafter, or in rats that had lost about 12% body weight and were continuing to lose weight at various rates at the time of the turpentine injection. In animals that were injected while they maintained a stable weight after losing about 25% body weight, the alpha 2-M response was attenuated fourfold to eightfold compared with control animals (the area under the 4-day alpha 2-M curve in control rats was 23.3 +/- 2.3 g/L/d). In the depleted animals that were injected while they were actively losing weight (approximately 12.5% weight loss), the attenuation of the alpha 2-M response was related to the rate of weight loss or to the extent of dietary restriction (area under the 4-day alpha 2-M curve ranged from 5.7 +/- 1.4 g/L/d in animals receiving 15% restricted diet to 15.6 +/- 1.5 g/L/d in animals receiving the 45% restricted diet).(ABSTRACT TRUNCATED AT 250 WORDS)

Acute-Phase Reaction↗

PubMedDate not supplied

The effect of enteral glutamine deprivation and supplementation on the structure of rat small-intestine mucosa during a systemic injury response.

BACKGROUND: An aseptic model of tissue injury (the induction of abscesses by subcutaneous injections of turpentine) was used to examine the proposal that changes in glutamine metabolism lead to structural damage in the epithelium of the small intestine during the systemic response to injury and to investigate the role of dietary glutamine in the maintenance of mucosal structure in the small intestine of control and injured rats. METHODS: Glutamine-free and glutamine-rich (3.6% glutamine by weight) diets were fed to rats before and during an acute-phase response to injury. Pair-fed groups of animals enabled an independent assessment to be made of the effects of the associated dietary restriction on the mucosal epithelium. RESULTS: Adaptive increases in villus height and crypt depth were seen in response to 4 days of feeding of the glutamine diet. Pair-feeding (30% dietary restriction) of either diet induced mucosal atrophy (loss of wet weight and nitrogen) without changes in villus height or crypt depth in the proximal tercile of the small intestine. Systemic injury, however, had no effect on the weight or nitrogen content of the mucosa (relative to pair-feeding). Gross histologic appearance, villus height, and crypt depth were also unchanged by the response to injury. CONCLUSIONS: The study provided no evidence to support the proposal that alterations in the availability of dietary glutamine during systemic injury (induced by turpentine injections) lead to structural damage to the epithelium.

Animals↗

PubMedDate not supplied

Observations on the patterns of 24-hour energy expenditure changes in body composition and gastric emptying in head-injured patients receiving nasogastric tube feeding.

BACKGROUND: Although intolerance to nasogastric feeding is commonly observed after head injury, quantitative measurements of gastric emptying are lacking. Concepts about energy requirements are limited by the lack of long-term measurements of total energy expenditure. METHODS: Six male subjects with severe head injury had their gastric emptying measured by the phenol red technique. N and energy balances were measured by classic balance techniques, which included continuous indirect calorimetry for up to 24 hours (days 3 to 5). Measurements of body composition were made on days 3 to 5 and 12 to 19 (4 subjects only). RESULTS: The subjects lost a mean of 9.8 kg of which 2.3 kg was estimated to be due to fat (equivalent to -14 g N/d and -1690 kcal/d). On days 3 to 5, basal metabolic rate (BMR) was 130% to 135% of predicted. The low dietary intake (650 kcal and 4.2g N/d) was associated with negative energy (-1710 +/- 520 kcal/d) and N balances (-19 +/- 5 g N/d). Gastric emptying was delayed twofold (days 3 to 5) compared with controls (p < .001) and was associated with significant regurgitation of feed into the mouth (16 of 31 saliva samples contained glucose at a concentration of > 0.5 mmol/L compared with control values of < 0.2 mmol/L. CONCLUSIONS: The large negative energy balance in the subjects studied was largely due to the inadequate nasogastric feeding, which was associated with a twofold reduction in the rate of gastric emptying and frequent regurgitation of feed. The large negative N balance and the high contribution of protein oxidation to total energy expenditure (25% to 28%) was predominantly due to the injury sustained and immobility. An increase in BMR is not necessarily associated with increased total energy expenditure or energy requirements.

Adolescent↗

PubMedDate not supplied

Interrelationship between circulating leptin concentrations, hunger, and energy intake in healthy subjects receiving tube feeding.

BACKGROUND: Tube feeding is an unphysiological route of nutrient delivery, and yet there is a lack of controlled trials examining its effects on appetite, food intake, and factors involved in their control. This study aimed to investigate the relationship between diurnal tube feeding, hunger, food intake, and circulating concentrations of leptin (a putative satiety factor). METHODS: Six healthy lean men received a continuous nasogastric infusion (9:00 AM to 9:00 PM) of colored water (2 days), liquid feeding (4.2 kJ/mL, energy provision 1 x the initial predicted basal metabolic rate; 3 days), and colored water (2 days). Measurements of hunger (visual analog scales), weighed food intake, and fasting circulating leptin concentrations were made while the subjects were allowed free access to isoenergetically dense food items. RESULTS: Three days of diurnal nasogastric feeding (mean, 6.9 MJ/d) significantly increased total energy intake (to 19.4 MJ/d; p < .001; analysis of variance [ANOVA]), suppressing oral energy intake by only 17%, with no significant effect on mean daily hunger. Higher levels of energy intake led to a universal rise in circulating leptin concentrations (2.82 to 4.23 ng/mL; p < .004; ANOVA) that was not significantly related to subsequent breakfast energy intake, first rated hunger of the day, timing of morning food consumption, or subsequent mean daily oral energy intake or hunger. CONCLUSIONS: This study suggests that 3 days of diurnal tube feeding (equivalent to basal metabolic rate) failed to suppress hunger and reduced food intake by only 17%. The rise in circulating leptin concentrations, associated with tube feeding and the increase in total energy intake, failed to predict subsequent hunger or oral energy intake.

Adult↗