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Biomedical subjects

C Fusch

Publications and source records attributed to C Fusch.

At least 37 records · Page 2Linked to original sources
PubMed1999

Lack of sex difference in cerebrospinal fluid (CSF) leptin levels and contribution of CSF/plasma ratios to variations in body mass index in children.

In adults, leptin seems to cross the blood-brain barrier by a saturable transporter. This may contribute to the development of obesity. The present study in healthy children investigates leptin levels in plasma and cerebrospinal fluid (CSF) in relation to body constitution. This prospective study analyzed leptin levels in plasma and CSF samples (stored at -80 C) of patients without CNS infection or blood-brain barrier dysfunction. Inclusion criteria included temperature less than 38.5 C, C-reactive protein levels below 10 mg/L, CSF leukocyte levels less than 10(7)/L, no need for neurosurgical or oncological treatment, and no history of trauma. Four groups were designated according to body mass index. Sixty-five children (28 girls and 37 boys) entered the study. Plasma leptin (median) was 7.4 in girls and 2.6 ng/mL in boys., CSF leptin was 0.273 and 0.204 ng/mL, respectively, leading to CSF/plasma ratios of 0.045 and 0.071, respectively. Ratios were clearly dependent on body mass index percentiles (r = -0.484; P < 0.01, significant differences between groups by ANOVA). Median plasma leptin levels in the 4 groups (body mass index, <10th, 10th-50th, 50th-90th, and >90th percentile) were 2.0, 2.3, 4.1, and 8.8 ng/mL; CSF/plasma ratios were inversely related: 8.2%, 7.6%, 5.5% and 3.6%. In healthy children, CSF leptin levels account for approximately 5% of plasma levels. CSF/plasma ratios in girls are lower than those in boys, explaining why calorie intake and energy expenditure are not grossly different despite large differences in circulating plasma leptin concentrations. CSF/plasma ratios of lean children are higher than those in obese children. The dynamic changes in the CSF/plasma ratios are more pronounced in lean children, i.e. the nonlinear transport characteristics of the leptin system amplifies the information about changes in body energy stores in this population, indicating that leptin is part of a mechanism to protect the body from critical weight loss rather than to avoid obesity.

Adolescent↗
PubMed1998

Physical fitness influences water turnover and body water changes during trekking.

PURPOSE: This study was performed to assess water turnover and changes of body water during a trekking tour at moderate altitude. METHODS: Fifteen healthy normally trained adults participated in a 7-d backpack trek tour in the Swiss Alps (total walking distance: 120.5 km; cumulated altitude difference: 6990 m (uphill) and 7550 m downhill; lowest point: 1285 m; highest point: 3317 m). Total body water and water turnover were measured using deuterium dilution and elimination (oral load of 0.33 g 99.8% D2O per kg body weight, overnight equilibration period, pre- and postdose saliva samples immediately before and after sleep, analysis of D2O concentrations in saliva using Fourier-transform infrared spectroscopy, CV < 1%). Physical training state was assessed after the tour using the lactate-exercise intensity relationship obtained by performing 50-W increments every 3 min on a cycle ergometer. RESULTS: Body water decreased from the evening of day 0 to the evening of day 4 (from 45.3 +/- 7.3 L to 43.4 +/- 7.6 L, P < 0.05), and did not significantly decrease (43.5 +/- 7.9 L) until the evening of day 5 (maximum of trekking exercise intensity). Mean daily water turnover was 5.7 +/- 1.8 L x d(-1) corresponding to 78.7 +/- 17.5 mL x kg(-1) x d(-1). Body water changes and water turnover were significantly related to the exercise intensity obtained at the lactate threshold as well as at the level of 4 mM lactate. CONCLUSIONS: This correlation may be in part explained by differing glycogen content of muscle tissue.

Adult↗
PubMed1997

Early nasal continuous positive airway pressure treatment reduces the need for intubation in very low birth weight infants.

UNLABELLED: Nasal continuous positive airway pressure (CPAP) applied shortly after birth is said to be an effective treatment of respiratory distress in very low birth weight infants (VLBW). We tested the hypothesis that the use of early nasal CPAP (applied as soon as signs of respiratory distress occurred, usually within 15 min after birth) reduces the need for intubation, the duration of intermittent mandatory ventilation and the incidence of bronchopulmonary dysplasia. All liveborn VLBW infants (birth weight < 1500 g) admitted to our tertiary neonatal intensive care unit in 1990 (historical controls) and in 1993 (early nasal CPAP group) entered the study. The intubation rate was significantly lower after introduction of nasal CPAP (30% vs 53%, P = 0.016). Median duration of intubation was 4.5 days (interquartile range 3-7 days) before versus 6.0 days (2.8-9 days) after nasal CPAP was introduced (P = 0.73). The incidence of bronchopulmonary dysplasia was not reduced significantly (32% vs 30%, P = 0.94). Survival until discharge was 89.5%, before versus 92.9% after introduction of nasal CPAP (P = 0.54). CONCLUSION: Early nasal CPAP is an effective treatment of respiratory distress in VLBW infants, significantly reducing the need for intubation and intermittent mandatory ventilation, without worsening other standard measures of neonatal outcome. We found no significant decrease in the incidence of bronchopulmonary dysplasia.

Analysis of Variance↗
PubMed1997

Perinatal ultrasonography and magnetic resonance imaging findings in congenital hydrocephalus associated with fetal intraventricular hemorrhage.

OBJECTIVE: We present the case histories of three premature infants with congenital posthemorrhagic hydrocephalus. STUDY DESIGN: The timing of the lesion was monitored in utero in two of the three cases. Magnetic resonance imaging studies (prenatal in one case, within 24 hours of birth in all three cases) established the duration of the lesions and thereby added to the ultrasonographic findings. RESULTS: All three patients demonstrated a similar pattern of lesions, consisting of (1) unilateral germinal matrix hemorrhage with cystic resorption, (2) residual blood in the cerebrospinal fluid with a "granular" ependymal reaction, (3) asymmetric ventriculomegaly predominating on the side of the hemorrhage with mild atrophy and periventricular cysts, and (4) partial hypoplasia of the ipsilateral thalamus. On the basis of two cases in which information about the pregnancy was available and in which fetal oligohydramnios without ruptured membranes was detected, we assume that this pattern of lesions may have resulted from a hypoxic-ischemic episode followed by intraventricular hemorrhage. CONCLUSIONS: Because these three infants with congenital hydrocephalus were born during a period of only 18 months in a perinatal center serving a region with 16,000 live births per year, we speculate that a posthemorrhagic cause for congenital hydrocephalus underestimated.

Adult↗
PubMed1996

Body composition in 5-18-y-old obese children and adolescents before and after weight reduction as assessed by deuterium dilution and bioelectrical impedance analysis.

The aim of the present study was to develop an equation for the prediction of total body water (TBW) from bioelectrical impedance analysis (BIA) in obese children and adolescents before and after weight reduction. In 146 obese subjects with a mean age of 12.7 +/- 3.0 y (5.5-17.8 y), TBW was measured by using deuterium dilution as well as the resistance index (RI; ht2/resistance) using BIA before and after weight loss. Initially, the RI correlated well with measured TBW (r2 = 0.92, P < 0.001). A multiple-regression analysis using forward stepwise selection of the variables RI, sex, age, weight, height, and waist-hip ratio revealed that the equation TBW = 0.35 x RI + 0.27 x age + 0.14 x weight - 0.12 predicts most accurately individual values of TBW before weight loss (adjusted r2 = 0.96, SEE = 1.9 L) with a mean error of predicted TBW of 1.40 +/- 1.38 L. This equation was validated in 1000 random samples (bootstrap-sampling method), giving a mean r2 of 0.95. During the weight-reduction program, which included an energy-restricted diet and an extensive exercise program, the patients lost 7.7 +/- 3.2 kg, leading to a small decrease in TBW of 0.4 +/- 1.5 L. When the developed prediction equation was applied to the data after weight loss, an r2 value of 0.94 between measured and calculated TBW and a mean error of 2.18 +/- 1.89 L was obtained. Validation of the equation in 1000 random samples after weight loss again gave a mean r2 value of 0.95. Individual changes in predicted TBW correlated only weakly with those of measured TBW (r = 0.21, P < 0.05). Thus, individual TBW values before and after weight loss can be predicted by BIA with acceptable accuracy by using the developed equation. However, prediction of small individual changes in TBW during weight loss is not possible by BIA.

Adolescent↗
PubMed1996

Water turnover and body composition during long-term exposure to high altitude (4,900-7,600 m).

Thirteen healthy subjects (11 men and 2 women; 30.2 +/- 5.4 yr; 73.5 +/- 10.3 kg; 178.9 +/- 10.4 cm; body mass index, 22.9 +/- 1.6 kg/m2) participated at the 62-day expedition to the Broad Peak (8,047 m), Pakistan. Weight, body water, and water turnover (deuterium dilution and elimination) were measured eight times to assess long-term changes. Body weight fell during the ascent to the base camp [from 73.2 +/- 9.8 (baseline) to 71.7 +/- 9.7 kg; P < 0.05] and decreased until the end of the base camp stay (66.7 +/- 7.2 kg; P < 0.0001). Body compartments changed at different rates. Total body water decreased during the ascent (from 43.1 +/- 7.3 to 41.0 +/- 7.7 liters; P < 0.05) and remained unchanged until the base camp was reached (41.2 +/- 6.9 liters; P < 0.01) but decreased further during the base camp stay (40.6 +/- 5.2 liters). Water content of the body (total body water-to-body weight ratio) fell during the ascent (from 58.6 +/- 3.4 to 55.8 +/- 4.4%; P < 0.01), approached the baseline value during the base camp (57.4 +/- 4.0 and 58.3 +/- 5.1%), and increased again until the end of the base camp (60.6 +/- 3.4 and 60.9 +/- 4.3%). The compartment of the solids increased during the ascent (from 30.2 +/- 3.4 to 32.2 +/- 4.9 kg; P < 0.01) and approached the baseline value on arrival at the base camp (30.5 +/- 4.7 kg). Until the end of the base camp, the compartment of the solids fell (26.9 +/- 2.6 and 26.1 +/- 4.0 kg), indicating that weight loss was due to a loss of body solids, presumably mostly fat mass. Water turnover during the pretest period (sea level) was 45 +/- 7 ml.kg-1.day-1; it increased during the ascent (56 +/- 11 and 60 +/- 10 ml.kg-1.day-1) but remained constant during the base camp stay (63 +/- 12, 58 +/- 9, and 56 +/- 10 ml.kg-1.day-1). It increased during the ascent to Broad Peak (73 +/- 20 ml.kg-1.day-1; P < 0.05) and even more during the descent to civilization (83 +/- 17 ml.kg-1.day-1; P < 0.05).

Adult↗
PubMed1996

Structural and neurobehavioral delay in postnatal brain development of preterm infants.

Postnatal brain development of healthy prematurely born infants was assessed to study possible influence of premature birth and early extrauterine environment on structural, biochemical, and functional brain development. Myelination and differentiation of gray and white matter were studied by in vivo magnetic resonance (MR) imaging (MRI), changes in cerebral metabolism by 1HMR spectroscopy (MRS), and changes in early human neurobehavior by the assessment of preterm infant's behavior (APIB). The stage of intrauterine and extrauterine brain development in prematurely born infants at term was compared with the stage of mainly intrauterine brain development in a group of full-term infants. Eighteen preterm infants unremarkable with respect to neurologic and medical status were studied at approximately 2 wk of postnatal age [gestational age (GA) 1: 32.5 +/- 1.2 wk] and again at term (GA 2: 40.0 +/- 1.1 wk). For comparison a group of 13 full-term born infants (GA T: 40.6 +/- 2.1 wk) were studied by MR and six by APIB. When GA 2 to GA 1 was compared, significant maturational changes were found with MRI in gray and white matter and myelination, with 1H MRS in the concentration of N-acetylaspartate and with all scores of APIB. In preterm infants at term (GA 2) compared with full-term infants (GA T) significantly less gray and white matter differentiation and myelination was observed as well as significantly poorer performance in four neurobehavioral parameters (autonomic reactivity, motoric reactivity, state organization, attentional availability). We conclude that MRI and 1H MRS can be used to study postnatal brain development in preterm infants. Structural and biochemical maturation is accompanied by functional maturation as shown with the neurobehavior assessment. Preterm infants at term compared with full-term infants show a structural as well as a functional delay in brain development assessed at 40 wk of postconceptional age.

Age Factors↗
PubMed1996

Assessment of total body water in paediatric patients on dialysis.

BACKGROUND: Various anthropometric techniques are used to assess total body water in children on dialysis; however, their predictive accuracy and precision has not been validated. METHODS: We compared total body water measurements obtained by deuterium oxide (D2O) dilution with predictions of total body water from (1) height and weight, (2) skinfold measurements, and (3) bioelectrical impedance analysis, using previously published formulae for healthy children. Measurements were performed in 14 patients on peritoneal and in nine patients on haemodialysis, aged 4-22 years. RESULTS: In the total population of dialysed patients, weight was the strongest single predictor of total body water (R2 = 0.93), followed by the resistance index (RI = height2/impedance; R2 = 0.85) and height (R2 = 0.93). A prediction formula based on height and weight predicted total body water with a residual mean square error (RMSE) of 1.97 1 (coefficient of variation (CV) = 10.0%) and with a systematic overestimation of true total body water by 0.4%. A prediction equation based on skinfold measurements yielded a total body water estimate with an RMSE of 2.15 1 (CV = 10.5%) and overpredicted true total body water by an average of 2.2%. Using three published prediction equations incorporating RI, RMSEs of 2.78 1 (CV = 14.1%) with a mean under- or overestimation of true total body water by 6.9, 7.1, and 0.8% respectively, were achieved. The prediction of total body water was optimized by linear combinations of RI or the log-transformed sum of four skinfolds (logsum) with weight by the following equations: total body water (1) = 9.97 - 3.13 x logsum (1) +0.59 x weight (kg) (R2 = 0.951; RMSE = 1.67 1; CV = 8.17%). total body water (1) = 1.99 + 0.144 x RI (Ohm/cm2) (2) + 0.40 x weight (kg) (R2 = 0.949; RMSE = 1.67 1; CV = 8.53%). The fit of these prediction formulae, which were derived from the total population, did not differ significantly between haemo- and peritoneal dialysis patients or between boys and girls. CONCLUSIONS: Both skinfold measurements and bioelectrical impedance analysis can be used to improve the height- and weight-based prediction of total body water in children on dialysis.

Adolescent↗
PubMed1995

Regional metabolic assessment of human brain during development by proton magnetic resonance spectroscopy in vivo and by high-performance liquid chromatography/gas chromatography in autopsy tissue.

To study the course of regional metabolite concentrations during early brain development, we measured in vivo metabolites [N-acetyl-aspartate (NAA), choline-containing compounds, and myoinositol (M-Ino)] in the precentral area of the cerebrum by short echo-time single volume proton magnetic resonance spectroscopy and compared in vivo established spectroscopic data with classic chromatographic data (HPLC) on age-corresponding autopsy tissue in different regions of the brain. In autopsy tissue, regional (frontal lobe, precentral area, basal ganglia, thalamus) and age-dependent differences of the concentration of creatine, NAA, and M-Ino were determined. In vivo measurement of NAA by proton magnetic resonance spectroscopy shows a significant increase of NAA by increasing postconceptional age. M-Ino shows a weak correlation and a nonsignificant decrease with increasing postconceptional age. Choline shows no age-dependent changes. Creatine concentrations measured by HPLC in different regions of the developing brain at autopsy showed an age-dependent increase that was identical for the left and right side and similar for the precentral area and frontal lobe and more pronounced for the basal ganglia and thalamus. Comparison of the results obtained by the two methods shows agreement for the age-dependent changes and the absolute concentration of M-Ino. NAA determined in autopsy tissue by HPLC is significantly lower than that measured in vivo by proton magnetic resonance spectroscopy. A comparison of the concentrations measured by HPLC in frontal lobe, basal ganglia, and thalamus with the results obtained from the precentral area showed significant regional differences in all measured metabolites. These results define important age-dependent changes detected with both methods and further indicate limitations of both methods that have to be considered when presenting absolute concentration values.

Age Factors↗
PubMed1995

Impact of chronic cigarette smoking on body composition and fuel metabolism.

Cigarette smoking has been associated with increased upper body fat deposition, as estimated by the waist to hip ratio, which has been shown to be associated with glucose intolerance and dyslipidemia in nonsmoking subjects. Whether smoking is at the origin of central adiposity and its related metabolic disturbances is unclear. Moreover, it is controversial whether smoking influences fuel metabolism. Therefore, young healthy male volunteers smoking more than 10 cigarettes/day for more than 5 yr (n = 14) were compared with nonsmokers (n = 13) matched for age, sex, body mass index, alcohol consumption, physical activity, as well as family history for hypertension, diabetes, obesity, and coronary heart disease. After an overnight fast, blood was drawn for chemistry, body composition was assessed by dual energy x-ray absorptiometry, and fuel metabolism was determined by indirect calorimetry. Nicotine uptake was estimated by 24-h urinary excretion of cotinine. Lean and fat body mass as well as their respective segmental distribution (i.e. arms, trunk, legs, and head), total bone mineral content, resting energy expenditure, and fat, carbohydrate, and protein oxidation were similar between smokers and nonsmokers. In contrast, 24-h urinary cotinine excretion (72.0 +/- 11.4 vs. 0.8 +/- 0.2 mumol/L.24 h; P < 0.001), plasma glucose (4.62 +/- 0.09 vs. 4.25 +/- 0.1 mmol/L; P < 0.01), total cholesterol (4.87 +/- 0.15 vs. 4.27 +/- 0.16 mmol/L; P < 0.02), low density lipoprotein cholesterol (3.05 +/- 0.19 vs. 2.43 +/- 0.16 mmol/L; P < 0.02), and apolipoprotein B concentrations (1.09 +/- 0.11 vs. 0.83 +/- 0.03 mmol/L; P < 0.03) were all higher in smokers than in nonsmokers. In smokers, 24-h urinary cotinine excretion positively correlated with the waist to hip ratio (r = 0.58; P = 0.03) and negatively with hip circumference (r = 0.87; P < 0.001). Moreover, 24-h cotinine excretion positively correlated with fat oxidation (r = 0.57; P = 0.03), but was independent of the other metabolic parameters studied. These results suggest that the dyslipidemia and glucose intolerance observed in smokers are not related to either central obesity or the amount of nicotine inhaled, but, rather, are due to some other component in cigarette smoke. In contrast, in smokers, fat oxidation increases with increasing nicotine uptake, a fact that might account for the often observed weight gain after cessation of smoking, thus suggesting different mechanisms of action of tobacco consumption on cholesterol and glucose metabolism on one side and fat oxidation on the other.

Adult↗
PubMed1993

Determination of saturation factors in 31P NMR spectra of the developing human brain.

In order to assess the influence of longitudinal relaxation on previously reported variations in 31P NMR signals during brain development, we used an accelerated two-point technique to determine T1 at 2.35 Tesla in 8 min. Comparison between 10 normal neonates (age range 37-46 weeks postconception) and 10 healthy infants (age range 80-157 weeks postconception) indicated that T1 does not vary substantially during the first year of life, except in the phosphomonoester (PME) region of the spectra. T1 of total PME decreases with age which we could explain by its variable multicomponent nature: The signal from (unresolved) components at the downfield shoulder of PME (attributed mostly to phosphorylethanolamine at 6.72 ppm) with a T1 of at least 6.4 s decreases with age relative to contributions from other phosphomonoester compounds resonating predominantly at the upfield side of the peak (approximately 6.3 ppm), with T1 below 2.9 s. Because the T1 heterogeneity of PME may depend on its relative composition, quantitative 31P NMR spectroscopy may require an assessment of the influence of longitudinal relaxation on the signal amplitudes in each measurement.

Brain↗
PubMed1993

Water turnover of healthy children measured by deuterated water elimination.

For healthy children up to 15 years of age, no data exist regarding water turnover as directly measured using stable isotope techniques. Water turnover was measured in 171 healthy children (88 girls, 83 boys, age: 6 weeks-15 years) whilst living in their normal environment. Water turnover was calculated from the equilibrium of 2H2O concentration reached in the urine 2-3 h after an oral test load of 2 ml 2H2O/kg and the subsequent elimination rate of 2H2O. Daily water turnover decreased from 160 ml/kg (3 months), 100 ml/kg (12 months), 65 ml/kg (3 years) to 40 ml/kg at 15 years of age. Fluid intake was then calculated by subtracting the estimated metabolic water production from water turnover and this data was compared with recommended values. Our calculation of spontaneous daily fluid intake for these healthy children is within the recommended range during the 1st year of life, whereas for older children the recommendations exceed the spontaneous intake by a factor of 1.2-2.

Adolescent↗
PubMed1993

Fourier transform infrared spectroscopy measures 1H/2H ratios of native water with a precision comparable to that of isotope ratio mass spectrometry.

A fast and easy method is described which uses Fourier transform infrared spectroscopy (FT-IR) to measure the 1H/2H ratio of aqueous samples of less than 100 microliters with high precision (+/- 0.2-0.5% in the range of 89 to 2680 microliters/l). Using a thermostat-controlled CaF2 cell, low resolution absorption specta (8 cm-1) are measured. The integral of absorption in the range of 2600 and 2460 cm-1 (O2H vibration) is used to analyse the 2H content of the sample. For measurements at low enrichment five standards are used (SLAP: 89.00 microliters/l, GISP: 126.3 microliters/l, V-SMOW: 156.0 microliters/l, all from the International Atomic Energy Agency, Vienna, Austria, standard 1: 183.3 microliters/l, standard 2: 222.5 microliters/l, both prepared by weighing and controlled by isotope ratio mass spectrometry (IR-MS)). For measurements at high enrichment three standards are used (standard 2: 222.5 microliters/l, standard 3: 1323 microliters/l, standard 4: 2680 microliters/l, all prepared by weighing and controlled by IR-MS). Measured and reported 2H concentrations coincide very well, two samples for quality control (145 and 1612 microliters/l) were measured with a precision of 0.3 and 0.4% corresponding to +/- 0.5 and 5.9 microliters/l.

Deuterium↗
PubMed1993

Measurement of water turnover using a stable isotope technique: calculation of error propagation.

Water turnover may be determined with stable isotope techniques from the product of tracer dilution space and tracer elimination rate. Tracer concentrations must be measured in two body fluid samples which are separated by a sampling interval. The tracer concentration of the first sample may be charged with an error which may be due to analytical errors, incomplete tracer dilution or because the necessary steady-state assumption (water influx equals water efflux) is violated at the moment of tracer loading. Error propagation shows that the influence of this error on the estimation of water turnover is partially compensated for. The goodness of compensation depends on the sampling interval and on the magnitude of the error of the first sample. The error is best compensated using sampling intervals of 1.5 tracer half life.

Body Water↗
PubMed1992

Androgen receptors in prostatic tissue: evaluation of systematic errors and comparison of three procedures to correct for nonspecific binding sites in the binding assays.

In androgen receptor analysis, nonspecific binding can distort the measurement of the binding constants of the receptor ligand complex. We evaluate this influence with a one-ligand two-binding sites model. The binding constants correspond to those of androgen receptors in prostatic tissue. Three procedures which correct for the influence of nonspecific binding sites are compared: difference of bound radioligands measured in both assays (assay 1: only radioligand, assay 2: additional unlabelled ligand in excess), nonlinear regression, and difference of bound radioligands corrected by the ratio of the free radioligands. The subtraction of bound radioligands causes considerable errors in the estimation of the total concentration of receptor binding sites. Nonlinear regression yields the correct result when the influence of nonspecific binding is moderate. The corrected difference of bound ligand gives the correct results even in the range where nonlinear regression fails. We conclude that the latter method corrects for the influence of nonspecific binding as effectively as nonlinear regression and suggest that the free fraction of radioligand should be measured and not discarded, as it is common in the clinical practice.

Binding Sites↗
PubMed1991

[Short-term infusion therapy in childhood. A comparison of individually mixed with commercial infusion solutions].

Data of parenteral sodium dosage in healthy children recommended by several textbooks vary by the factor 4. Therefore, we studied the effect of low and high i.v. dosage administered in 5-5.5% glucose for 12 hrs to probands without renal disease. Group 1: n = 13; Na 2.2 +/- 0.4, K 1.7 +/- 0.2, Cl 4.2 +/- 0.6 mmol/kg/d, individually composed solutions. Group 2: n = 17; Na 5.1 +/- 1.3, K 1.6 +/- 0.5, Cl 5.8 +/- 1.5, acetate 2.4 +/- 0.6 mmol/kg/d; Ca, Mg, malate, glycerol phosphate below 0.3 mmol/kg/d; commercial ready-for-use mixtures. Compared to the control period, the excretion of Na into the urine was unchanged in group 1 during the infusion but significantly lowered in group 2. Regression analysis reveals that infusion of 2.7 mmol Na/kg/d would have given a balanced sodium balance. The real parenteral requirement, however, may be below this value, as the excretion of Na during the control period indicates that the probands in both groups were overloaded with Na before the beginning of the study. During infusion, the renal clearance of creatinine was unchanged in group 1 but significantly lowered in group 2 (131 +/- 58 vs. 94 +/- 38 ml/min/1.73 m2; p less than 0.01). We would like to recommend to elucidate the mechanism and the clinical significance of this effect before using the commercial solution in clinical routine.

Adolescent↗
PubMed1989

A case of combined Farber and Sandhoff disease.

We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots. Until the age of 2 years her motor and physical condition deteriorated distinctly, however her mental state remained unchanged. A biopsied skin nodule disclosed lysosomal inclusions within storage cells that were typical of Farber disease (curved tubular structures). However, other inclusions (e.g. zebra bodies) were also found. Biochemical findings included ceramide accumulation in skin nodules and cultured fibroblasts, impaired ceramide degradation on loading of cultured fibroblasts with radioactive sphingomyelin, profoundly decreased ceramidase activity in fibroblasts as well as total beta-hexosaminidase activity in fibroblasts and serum, absent hexosaminidase A and B bands on cellogel zymograms, increased urinary oligosaccharide excretion of the Sandhoff disease type, and a partial reduction of ceramidase and total beta-hexosaminidase activities in fibroblasts from her father. A diagnosis of combined Farber and Sandhoff disease was made. The effect of both enzyme deficiencies on the clinical manifestations in this patient and the genetic basis of this combination require further studies.

Biopsy↗