Micro determination of plasma and erythrocyte copper by atomic absorption spectrophotometry.

The free and total plasma copper and total erythrocyte copper levels have been determined by simple, yet sensitive and highly specific methods, using atomic absorption spectrophotometry. For total copper determination, the copper was split from its protein combination in plasma or red cells by the action of hydrochloric acid at room temperature. The liberated copper was chelated by ammonium pyrrolidine dithiocarbamate and extracted into n-butyl acetate by shaking and the organic extract was aspirated into the atomic absorption spectrophotometer flame. The entire procedure was carried out in polypropylene centrifuge tubes, capped during shaking. For the free plasma copper measurement the hydrochloric acid step was omitted. Removal of the plasma or erythrocyte proteins was found to be unnecessary, and, in addition, the presence of trichloracetic acid caused an appreciable lowering of absorption. Using a double-beam atomic absorption spectrophotometer and scale expansion x 10, micro methods have been derived for determining the total copper of plasma or erythrocytes with 0.1 ml of sample, and the free copper of plasma with 0.5 ml. The macro plasma copper method requires 2 ml of plasma and is suitable for use with single-beam atomic absorption spectrophotometers. With blood from 50 blood donors, normal ranges of plasma and erythrocyte copper have been determined.

The use of the World Health Organization's oral rehydration solution in patients on home parenteral nutrition.

Patients on home parenteral nutrition who have continuing excess fluid and electrolyte loss from the bowel can have difficulty in managing their fluid and electrolyte state because of the variability of such losses. Recently we have used the World Health Organization's oral rehydration solution to replace such losses in two patients with good effect.

Congenital granular-cell myoblastoma.

The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis.

Unilateral enlargement of the testis in childhood: does it need exploration?

Unilateral testicular enlargement in the pubertal boy is not an indication for exploration and biopsy, if the clinical features and investigations show no evidence of malignancy. In the prepubertal boy, unilateral testicular enlargement is not necessarily an indication for exploration if there are no clinical or investigational grounds for suspicion of neoplasia. Close follow-up is essential.

The use of microsurgery in the treatment of the undescended testis.

An experimental method of orchidopexy for high inguinal or abdominal testes, in the dog, using microsurgical anastomosis of the testicular vessels to vessels of the thigh or inferior epigastric vessels, is described. Experimental results suggest that this is a feasible method of treatment of such testes. A clinical trial of the method has commenced.

Importance of early diagnosis and gonadectomy in 46, XY females.

Gonadal neoplasms developed in three 46, XY females aged 3 yr and 10 mo, 15 yr, and 19 yr. One patient died from metastatic neoplasia. Early diagnosis of 46, XY gonadal dysgenesis is essential, and should be considered in female infants and children with any features of Turner's syndrome, ambiguous genitalia, phallic hypertrophy, excessive height, large hands and feet, failure of development of secondary sexual characteristics, primary amenorrhea, abdominal mass, or unexplained hypertension. Any female with gonadal dysgenesis and a Y chromosome in her karyotype should have prophylactic gonadectomy as soon as possible. The absence of Sertoli cells in these patients, causing lack of androgen binding protein with deficient local concentration of androgens and consequent failure of maturation of spermatogonia, may lead to unregulated proliferation of germ cells, and hence explain the frequency of gonadal neoplasia in the 46, XY female.

Results of the use of autotransplantation of the intraabdominal testis using microsurgical vascular anastomosis.

This study indicates that where facilities are available, the use of autotransplantation of the intraabdominal testis with microsurgical anastomosis to vessels of the groin is an acceptable, and possibly the best, alternative to orchidectomy for the intraabdominal testis. It is certainly justifiable in the case of the bilateral intraabdominal testis but in the case of the unilateral intraabdominal testis with a normally descended and apparently normal testis in the opposite hemiscrotum, the incresed incidence of neoplasia in intraabdominal testes should be taken into account in the decision on the method of treatment.

Germ cells and ova in dysgenetic gonads of a 46-XY female dizygotic twin.

The frequency of germ cell neoplasms in girls with 46-XY gonadal dysgenesis suggests that germ cells may persist in the dysgenetic gonads for many years. A phenotypic female infant with a karyotype of 46-XY in blood, skin, and gonads had a few ova in primordial follicles and numerous germ cells in her dysgenetic gonads at the age of 3 months. At 3 years and 10 months of age her gonads contained no primordial follicle and the only remaining germ cells were in a gonadoblastoma. We propose that germ cells are lost from dysgenetic gonads much more rapidly than from normal gonads, but that the rate of loss in patients with a karyotype of 46-XY may be less than the rate of loss in patients with a karyotype of 45-XO.

Fatal air embolism following endoscopy of a hepatic portoenterostomy.

The case reported is that of a 10-year-old girl born with congenital biliary atresia who had undergone a Kasai procedure in the first year of life. She presented with ascending cholangitis, and investigations revealed a stricture of her portoenterostomy with an intrahepatic stone above the stricture. At laparotomy there were numerous adhesions and dilated varices, so the descending loop of the Kasai was exteriorized to enable a subsequent percutaneous endoscopic manipulation of the stone. During manipulation of the stricture via a pediatric endoscope in the jejunal loop the patient collapsed and died. Post mortem revealed a massive air embolism and varices of the jejunal loop.

Detection of gonadal carcinoma in situ in childhood and implications for management.

Cells with the characteristic features of carcinoma in situ (CIS) were detected in histological sections of the gonads of three of seven children with clinical syndromes associated with a high risk of gonadal neoplasia. It is suggested that early detection of these cells may be useful in resolving problems of management, including gonadectomy and decisions about sex of rearing. Early detection of CIS cells may have a place in the management of the undescended testis.

Acute appendicitis in children: when does ultrasound help?

Fifty-six patients with possible appendicitis were evaluated clinically and by ultrasound. Ultrasound examination visualized the appendix in 18 of the patients evaluated and showed another pathology in six others. It was useful when the clinical picture was not clear (25 patients) as it showed an inflamed appendix in 10 patients. This was of particular value when there was another critical illness making clinical evaluation difficult (three patients), and for the diagnosis of other unsuspected pathological conditions (six patients). It did not affect the line of management when the clinical picture was clear enough to diagnose or exclude acute appendicitis.

Effect on the fetus of infusing a commercial amino acid preparation into a pregnant sheep.

The common clinical practice of intravenous feeding of the pregnant woman poses the question of the effect on the fetus of such infusions. We have used the sheep as a model to study the change in fetal amino acid levels after a maternal infusion of Synthamin 13. The maternal plasma aminogram largely reflects the amino acid pattern in the infusate. However, in the fetal circulation only the branched chain amino acids (leucine, isoleucine and valine), phenylalanine and alanine rose significantly after infusion. Only leucine and isoleucine were observed to spill into the fetal urine. The results suggest that the ovine placenta selectively modifies the amino acid profile presented to the fetus when the maternal plasma aminogram is distorted. However, the fetus is not totally protected from changes in phenylalanine, which in high concentrations, is detrimental to normal development.

Changes in plasma amino acids in the developing chick.

We have sampled arterial blood from chicken embryos during development and measured the changes in plasma amino acids from mid-gestation to hatching. During gestation, several amino acids rise to a peak concentration at 16 days and fall prior to hatching. After hatching, most amino acids fall, although the plasma concentrations of aspartate, glutamate and taurine rise significantly.

In utero repair of diaphragmatic hernia.

This report describes the first in utero repair of diaphragmatic hernia in Australia. The patient was a 32 year old woman with major infertility problems who was diagnosed at 15 weeks gestation as having an infant with diaphragmatic hernia. After extensive consideration and counselling the parents requested in utero repair. This was performed at 28 weeks gestation and was technically successful, but the infant was found to be dead after uterine closure. The mother has subsequently been delivered of normal twins at term by Caesarean section. In utero repair of diaphragmatic hernia requires a high degree of team work, is technically demanding and has major ethical implications. It should be restricted to nationally designated units.

Intravenous solutions in parenteral nutrition.

A review of the theoretical basis on which amino acid intravenous solutions are formulated leads to the conclusion that the first class protein model is not ideal for the very small premature infant. Comparison of the serum and urine amino acid levels in a controlled trial between intravenous feeding with "Vamin" and intragastric milk feeding, and further comparison of these values with the cord blood values of premature infants supports the conclusion that the first class protein model is not ideal. The balance studies also support the view that the urinary output of amino acids, as well as the serum levels, should be taken into account in determining the ideal amino acid input.