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Biomedical subjects

F Rey

Publications and source records attributed to F Rey.

At least 145 records · Page 8Linked to original sources
PubMed1981

[EEG sleep activity in a phenylketonuric child of the 'new variant' type, before and after treatment with 5-HTP and L-DOPA (author's transl)].

The EEG during the sleep of a 'new variant' (having a dihyropteridine reductase deficiency) phenylketonuric child, aged 11 months, has been studied under low phenylalanine and following a substitute treatment with 5-HTP and L-DOPA. Prior to treatment, a paroxystic type of activity composed of spikes and/or polyspikes associated with sharp theta waves was chiefly observed during paradoxical sleep (PS). After a 10 day treatment with 5-HTP and L-DOPA, the EEG was not modified. However, after 6 months of this therapy, the paroxysms disappeared as well as the spindles; the quiet sleep trace was disorganized. The EEG modifications observed could be due to an evolution of the illness, if the substitute treatment was begun too late to go into effect.

Electroencephalography↗
PubMed1981

[Assessment of external cardiac massage efficiency or Kouwenhoven revisited (author's transl)].

The external cardiac massage mechanism is commonly related to the ventricles compression between the vertebral block and the sternum. This over-simple explanation must be reconsidered. Following recent data, the intra thoracic pressure changes take probably a major part in it efficiency. Six patients have been studied by hemodynamic intra aortic measurements and Doppler carotidian velocimetry. Intra thoracic pressure have been recorded by an oesophageal catheter. Results are in agreement with the prominent part of the intra thoracic pressure variations. Various external cardiac methods are investigated following this monitoring. Some aspects of the classical management of the cardiac arrest have to be discussed.

Heart Massage↗
PubMed1980

In vivo studies of the tryptophan-5-hydroxylase system. Quantitation of serotonin and tryptamine using gas chromatography-mass fragmentography.

An in vivo determination of tryptophan-5-hydroxylase (E.C. 1.14.16.4) activity is described. Subjects were loaded with deuterated L-tryptophan-d5 (50 mg/kg body weight) and the deuterated serotonin-d4 in urine was analysed using mass fragmentography. Four control subjects were dosed orally and two of them also intravenously with 50 mg/kg of L-tryptophan-d5. One patient with atypical phenylketonuria (PKU) due to a tetrahydrobiopterin (BH4) deficiency was dosed without and during BH4 treatment. Without BH4, the patient showed only minor formation of deuterated serotonin. After BH4 administration (2.5 mg/kg body weight) the serotonin formation increased about four-fold but was not normalized. Serotonin in urine and blood was analysed as the pentafluoropropionyl (PFP) derivative using gas chromatography-mass fragmentography. Deuterated serotonin was used as internal standard. The analysis of tryptamine can be performed with the same procedure.

Biopterins↗
PubMed1980

Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.

A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the case from that of malignant hyperphenylalaninaemia.

Biopterins↗
PubMed1980

Excretion of pterins in phenylketonuria and phenylketonuria variants.

Total urinary biopterin (B), neopterin (Ne) and monapterin (M) were measured in 25 healthy newborns, children and adults, in 49 patients with phenylketonuria (PKU) assumed to be deficient in phenylalanine-4-hydroxylase (PH), in 7 patients with dihydrobiopterin synthetase (DHBS) deficiency and in 4 patients with dihydropteridine reductase (DHPR) deficiency. Excretion of Ne based on creatinine (Ne/C) was 6.6 times higher in healthy newborns than in adults, suggesting a slow maturation of DHBS activity. Newborns excreted more Ne than B and adults more B than Ne (32 and 72% B of the sum of B + Ne, respectively). In all cases, excretion of M was 4-15% of that of Ne. PH deficient patients excreted more B and Ne than healthy controls and again, newborns more than older children. In individual patients, excretion of pterins correlated with phenylalanine (Phe) concentration in plasma; plasma Phe of different patients did not correlate well with excretion of pterins. In PKU variants with deficiency of tetrahydrobiopterin (BH4), extreme pterin patterns were observed: in DHBS- and DHPR-deficient patients, less than 3.5 and more than 81% B were found, respectively. All 30 samples from these patients investigated could be distinguished from those of PH-deficient patients and controls by a two-dimensional plot of % B versus B/C. Thus it seems likely that PKU variants due to BH4 deficiency could be detected early and differentiated by measurement of urinary B, Ne and C. This was exemplified already in one case. - In urine of patients with DHBS deficiency, high concentrations of 3'-hydroxysepiapterin were found in addition to Ne.

Adolescent↗
PubMed1980

[Perfusion study of intestinal sugar absorption after extensive intestinal resection (author's transl)].

Small bowel adaptation after extensive intestinal resection has been studied in 5 children. A segmental perfusion technique was used to evaluate the kinetics of glucose absorption and sucrose hydrolysis. The activity of 6 brush border hydrolases and the mean villus height were measured in intestinal biopsies. Glucose absorption was greater than in 3 control children of the same age and was almost complete. Sucrose hydrolysis was increased in the same proportion and the maximum capacity of the segment was 2 mmol/min/20 cm as compared to 1.2 mmol/min/20 cm in the control group. Absorption of the released monosaccharides was complete for glucose and as high as in controls for fructose. Brush border hydrolase activities were identical to those of controls whereas the mean villus height was increased (438 micrometer as compared to 342 micrometer) although the difference was not significant. These results demonstrate the functional adaptation of the remaining small bowel and confirm that it is due to compensatory hyperplasia.

Carbohydrate Metabolism↗
PubMed1979

["Transitory" phenylketonuria. A permanent deficit].

Three cases are reported with hyperphenylalaninaemia greater than 1.8 micrometer/ml-1 in the neonatal period, becoming tolerant of a normal regime (3 g protein per kg) without plasma levels of phenylalanine exceeding 0.2 to 0.3 micrometer/ml-1. Atypical kinetics (zero order) of phenylalanine clearance after intravenous perfusion were shown in the three cases at the age of one year and the persistence of the disorder was again demonstrated at the age of five years in two cases by the study of an oral load of phenylalanine. Examination of the parents showed normal fasting levels of phenylalanine and a normal phenylalanine/tyrosine ratio. The observations draw together several previous publications from diverse authors and a new defined entity, "transitory" phenylketonuria, is proposed. It does not always appear to be a homogenous condition, as a partial defect in biopterin synthesis has been shown in the one case. In retrospect no anomaly of this kind was discovered in the other two cases where the mechanism was not elucidated.

Biopterins↗