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↗

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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↗

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[Acute generalized exanthematous pustulosis induced by carbimazole (Neomercazole): first reported case and value of patch tests].

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Aged, 80 and over↗

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[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↗

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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↗

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[Evaluation of the delayed skin reaction in chronically ill children].

The evaluation of delayed cutaneous hypersensitivity by using a standardized test system offers an assessment of cell-mediated immunity. The number and diameter of positive responses induced by seven antigens result in a score. The study included 21 healthy children, 20 children with bacterial infections as well as 20 patients with chronic renal insufficiency. In addition, 16 children with cystic fibrosis were also studied. No differences in the skin reactions was found in children with bacterial infections, showing a score of 13 +/- 6 mm. But children with cystic fibrosis or with renal insufficiency exhibited a severe impaired cell-mediated immunity. To what extent the alteration of cell-mediated immunity affects the course of the various diseases, has to be investigated by further prospective studies.

Adolescent↗

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A staged protocol for the treatment of persistent pulmonary hypertension of the newborn.

The purpose of this report is to propose a staged therapeutic protocol for the treatment of persistent pulmonary hypertension of the newborn (PPHN) based on retrospective clinical experience. We analysed the clinical course of 19 term and near-term neonates with severe PPHN treated between 1991 and 1993, before the introduction of inhalational nitric oxide (NO) therapy. Basic therapy consisted of continuous sedation, and analgesia, circulatory support with dobutamine, dopamine and substitution of 5% albumin or packed red blood cells, mechanical hyperventilation, alkalisation with sodium bicarbonate and surfactant instillation. Consecutive therapy included the administration of norepinephrine, high frequency oscillatory ventilation (HFOV), Prostacyclin (PGI2) and extracorporeal membrane oxygenator (ECMO) therapy with entry criteria for each stage of treatment. From our observations we suggest that firstly, an early increase in systemic mean arterial pressure due to norepinephrine and secondly, HFOV trials are beneficial in patients with PPHN. The staged protocol shall be applicable in most neonatal intensive care units in which inhalational NO and ECMO therapies are not available and includes our present entry criteria for both therapies.

Birth Weight↗

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Artificial abdominal hernia for the treatment of hepatomegaly in a neonate with stage 4S neuroblastoma.

Surgical widening of the abdomen by a silastic pouch has been used very rarely in the management of critically ill infants with hepatomegaly due to neuroblastoma stage 4S. A female newborn baby was referred on the second day of life because of local compressive effects of a massive hepatomegaly, which lead to multiorgan failure. An artificial abdominal hernia was created on the third day of life using a silastic pouch. During the operation oxygenation and ventilation improved and urinary output returned. After chemotherapeutic reduction of hepatic metastases and primary tumor the pouch was successfully removed on day 57 without local complications. The child has survived for more than 1 year and is in complete remission. An artificial abdominal hernia should be considered more often in the critically ill neonate with stage 4S neuroblastoma and massive hepatomegaly.

Decompression↗

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Vulvar cicatricial pemphigoid of childhood.

We report a 9-year-old girl with a vulvar autoimmune bullous dermatosis. A diagnosis of localized bullous pemphigoid or cicatricial pemphigoid was made on the basis of immunohistologic data. Since the lesions were unresponsive to topical corticosteroids but healed completely on dapsone at a dosage of 1.5 mg/kg/day, we favor the diagnosis of vulvar cicatricial pemphigoid. Only two such cases have been reported thus far. The diagnostic criteria and therapeutic modalities are discussed.

Child↗

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Milia-like idiopathic calcinosis cutis.

Milia-like idiopathic calcinosis cutis is a rare entity. Only 17 cases have been reported so far. Two-thirds of these have been associated with Down syndrome. We report the fifth case occurring in a child without Down syndrome. Milia-like idiopathic calcinosis cutis has long been regarded as a peculiar subtype of idiopathic calcinosis cutis. The pathogenesis of the disorder remains unclear.

Adolescent↗