Canavan's disease is an autosomal recessive hereditary leukodystrophy resulting from deficiency of the enzyme aspartoacylase. Two children suffering from this metabolic brain disease were examined using image-guided localized proton spectroscopy. The absolute concentrations of metabolites were determined. These data demonstrate, for the first time, that the well known increase of the N-acetylaspartic acid (NAA)/Cho ratio in this disease may be not only due to a reduction of choline-containing compounds in brain tissue but, at least in specific cases, also due to an increase of the NAA concentration, which is a result of the enzyme defect.

Aspartic Acid↗

PubMedDate not supplied

Side localization of parathyroid adenomas by simplified intraoperative venous sampling for parathyroid hormone.

Side localization of parathyroid adenomas was performed by venous sampling for intact parathyroid hormone (PTH) in 20 consecutive patients with primary hyperparathyroidism (pHPT) after induction of anesthesia. The results were thus available during surgery. Nineteen of the patients had solitary parathyroid adenoma, and one had hyperplasia. There was no complication to the procedure. A lateralizing PTH gradient for a parathyroid adenoma was obtained in 13 patients. At surgery 12 of them (92%) were proved correct; that is, the adenoma was localized on the same side. Thus the technique correctly lateralized the adenoma in 12 of 19 patients (63%). We therefore conclude that the method of intraoperative venous sampling for intact PTH is safe, and the predictive value of a lateralizing gradient is high. It could therefore be used as an adjunct to surgical skill and noninvasive localization procedures in selected cases, for instance in patients with prior neck surgery and hypercalcemic crisis.

Adenoma↗

PubMedDate not supplied

[The effect of biological and psychosocial factors on maternal distress and coping in the first months after preterm delivery of an infant weighing less than 1500 g].

PROBLEM: Several studies have shown that maternal coping after a premature birth has an influence on the psychosocial development of preterm infants. As maternal coping is so important for development of premature infants, in this prospective study the medical state of the child, previous negative experiences, personal and partnership resources and social support outside the family were examined regarding their effects on maternal distress and coping after preterm birth. SAMPLE, MATERIAL, METHODS: 63 of 68 consecutive mothers with a preterm infant weighing less than 1500 g were examined with a semistructured interview and questionnaires (F-Sozu, ADS-L, FPI-R) at the time of discharge. RESULTS: 30.2 % (n = 19) of the mothers had multiples. The mean gestational age of the infants was 28 + 4 weeks (23 + 3 to 34 + 1 weeks), the mean birthweight was 1035 g (380 -1480 g). Although many mothers had fears concerning a handicap of their child, not medical complications per se influenced the mothers perception, but the duration of the medical treatment. Previous distressing experiences through complications of previous pregnancies and deliveries, as well as handicaps, chronic disorders and behavior problems of siblings influenced the perception of the child's health negatively, if they have had an effect on the current pregnancy. The mother's mood was not associated with the perception of the child's health, but with the atmosphere of the intensive care unit, partnership resources and social support outside the family. CONCLUSIONS: As both biological and psychosocial factors had an effect on the mother's experiences, it is necessary to evaluate previous maternal experiences and coping resources and offer practical counselling for the mothers to optimize the clinical care in the future.

Adaptation, Psychological↗

PubMedDate not supplied

CA 19-9, CA 50 and elastase 1 as additional markers of cystic fibrosis.

Since reliable diagnosis of cystic fibrosis (CF) is still difficult, the occurrence of serum markers CA 19-9, CA 50 and elastase 1 was analysed. Serum levels of CA 19-9, CA 50, CA 125 and elastase 1 were estimated in 54 CF patients as well as in a control group of 66 children of similar age suffering from various other diseases and in 57 parents of CF patients. In 67% of CF patients CA 19-9 was higher than 37 U/ml, whereas 8% of the control group and only 2% of the parents showed an increased concentration. In the case of CA 50, 65% of the CF group, 21% of the control and none of the parents exhibited concentrations higher than 17 U/ml. In CF 22% showed decreased, 8% increased elastase 1 values. In the control group 2% had less than 80 ng/dl and 3% had higher elastase 1 levels than 400 ng/dl. In parents there were only increased levels in 4%. Accordingly CA 19-9 has been proven as a suitable marker and its sensitivity can be improved from 67% to 86% by additional testing of CA 50 and elastase 1. With regard to CA 125 in 11% of CF patients, 5% of control persons and 5% of parents CA 125 levels ranged above 35 U/ml. The determination of saliva CA 19-9 and CA 125 does not yield further information. Taking all previous findings into account elastase 1 is a better marker for acute pancreatitis than for pancreatic cancer and CF.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗