Antenatal intestinal vascular accident with subsequent small bowel atresia: case report.

A woman was referred at 25 weeks' gestation with decreased fetal movements. Ultrasound revealed a large solid fetal abdominal mass and gross fetal ascites. Amniocentesis and viral titers were normal. On subsequent ultrasound examinations, the mass and ascites slowly disappeared, but a small bowel obstruction developed. Spontaneous labor occurred at 35 weeks and the child was born with a distended abdomen. At laparotomy there was type 3 jejunal atresia, indicating that the fetal mass and ascites were secondary to this antenatal small bowel ischemia.

'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.

The first case of amyloidosis is reported in which spontaneous massive hepatic haemorrhage necessitated emergency liver transplantation. Liver transplantation, as a treatment for a failing liver due to amyloidosis has not been previously reported. At transplantation, the liver tissue was uncharacteristically friable, although the subsequent vascular and biliary anastomoses were uncomplicated. Histological examination of the liver showed a surprisingly modest amount of amyloid, which was shown immunohistochemically to be derived from lysozyme, and a striking absence of reticulin staining. Both the patient's father and paternal grandfather had died from spontaneous hepatic haemorrhage, and histological review of their liver tissue showed similarly modest deposition of lysozyme-derived amyloid associated with loss of reticulin staining. In each case the quantity of amyloid was far less than would be expected to interfere with the mechanical integrity of the liver. This is the only report of hepatic disintegration associated with absence of reticulin staining, and it is probable that the mechanism represents a novel secondary effect of the amyloid deposits in the livers of this family.

Severe urethral obstruction diagnosed at 14 weeks' gestation: variability of outcome with and without drainage.

We present 3 case reports to illustrate the variability of outcome of severe fetal posterior urethral obstruction. Two of the described cases support the view that early in-utero decompression of an obstructed fetal urinary system into the amniotic cavity, in the selected patient, will allow adequate lung development and will prevent the development of severe renal dysplasia. It will not prevent the abdominal wall deformity of the prune belly syndrome. The evidence suggests that to allow maximum time for lung development and to prevent increasing renal dysplasia, drainage should be performed before 18 weeks of gestation. To obtain maximum effect, this drainage should continue until at least 32-33 weeks' gestation, so that the possible respiratory problems of prematurity would not be severe enough to compound the degree of lung hypoplasia which might be present. Case 3 supports our view that an endoscopic approach to in-utero drainage of the urinary tract has the advantage of achieving drainage with minimal risk to both mother and fetus.

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.

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.

Renal cancer staging: comparison of contrast-enhanced CT and gadolinium-enhanced fat-suppressed spin-echo and gradient-echo MR imaging.

Fifty-three consecutive patients with 61 solid or complex non-fat-containing renal masses compatible with renal cancer were examined with contrast-enhanced computed tomography (CT) and magnetic resonance (MR) imaging with pre- and postcontrast FLASH (fast low-angle shot) and fat-suppressed spin-echo sequences. CT and MR imaging were performed within a 1-month interval. CT and MR images were prospectively interpreted. Tumor detection and staging were determined in all patients. CT and MR imaging enabled detection of 54 and 58 of 61 renal tumors, respectively. CT and MR imaging showed 34 and 35 of 38 histologically proved renal tumors, respectively, in 31 patients. Tumor size on CT and MR images demonstrated good correlation and correlated well with the size of pathologic specimens of 34 of 38 resected tumors detected with CT and MR imaging (r = .99). Of the 31 tumors in 31 patients who underwent surgical resection, 24 were correctly staged with CT and 29 with MR imaging. CT and MR imaging both enabled correct staging of four of five additional tumors with biopsy proof of tumor stage. A moderate difference in staging was observed between CT and MR imaging (P = .05). CT showed 13 and MR imaging 15 of 15 tumor thrombi. CT and MR imaging both showed 11 of 11 cases of adenopathy. The results suggest that MR imaging is moderately better than CT for the detection and staging of renal cancer.

Renal lesions: controlled comparison between CT and 1.5-T MR imaging with nonenhanced and gadolinium-enhanced fat-suppressed spin-echo and breath-hold FLASH techniques.

Nonenhanced and gadolinium-enhanced fat-suppressed spin-echo and breath-hold fast low-angle shot (FLASH) magnetic resonance (MR) imaging techniques were compared with iodine contrast material-enhanced computed tomography (CT) for the detection and characterization of renal masses. MR studies included T1-weighted fat-suppressed spin-echo (T1FS) and FLASH images followed by rapid injection of gadopentetate dimeglumine and a repeated FLASH image obtained at 1 second, a T1FS image at 30 seconds, and a FLASH image at 10 minutes. Of 38 patients, 17 had renal cysts, 18 had solid tumors, two had cortical scarring, and one had a hypertrophied column of Bertin. With contrast-enhanced T1FS, contrast-enhanced FLASH, and CT images, 114, 110, and 109 lesions, respectively, were detected. With MR imaging and CT, cysts smaller than 5 mm in diameter and solid tumors as small as 1 cm in diameter were detected. With combined contrast-enhanced FLASH and T1FS images, 112 lesions were correctly characterized as cystic or solid; with nonenhanced T1FS images, 110; with nonenhanced FLASH images, 107; and with nonenhanced CT, 103.

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.

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.

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.

Failure of IGF-1 to affect protein turnover in muscle from growth-retarded neonatal rats.

To investigate the response of the growth retarded neonatal rat to insulin-like growth factor-I (IGF-I) we have measured the effect of IGF-I on in vitro muscle protein synthesis and degradation rates in growth retarded and control neonatal rat pups. The growth retarded pups were growth retarded in utero by ligation of the uterine blood supply at day 17 of gestation. Basal levels of muscle protein synthesis in vitro were significantly lower in growth retarded pups compared with controls. Protein degradation rate were not different in muscles taken from the two groups. IGF-I stimulated protein synthesis in muscle from control pups by 12% and 15% at 20 ng/ml and 200ng/ml respectively. Net protein degradation was inhibited by 20% in the presence of 20ng/ml IGF-I. IGF-I had no effect on net protein synthesis or degradation in muscle from growth retarded pups. Neither Multiplication Stimulating Activity (at 20ng/ml or 200ng/ml) nor insulin (at 40ng/ml or 800ng/ml) was able to increase synthesis or decrease degradation of protein. Specific receptors for IGF-I are present on muscle membranes from both groups. Unlabelled IGF-I was more effective than MSA or insulin in competing with 125I-IGF-I for binding to the receptor. The relative affinities are consistent with type I IGF receptors. The affinity of these receptors for IGF-I was similar (Kd approximately 5nM) in both groups and the receptor concentration in both cases was approximately 250 fmol/mg protein. The refractility of tissue from growth retarded pups to IGF-I may be partially responsible for the lack of catch up growth in growth retarded neonates.

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.

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.

Management of blunt injury to the lower urinary tract.

Rupture of the bladder and of the urethra are serious injuries, which, if not recognized or treated adequately, can cause considerable morbidity, even death. The possibility of such injuries should be considered in patients who have lower abdominal trauma, especially in association with a fractured pelvis. Retrograde urethrography should be done when urethral injury is likely. A properly performed cystogram is reliable in diagnosing bladder rupture, which, with the possible exception of small extraperitoneal tears, should be treated by surgical exploration. Treatment of urethral injury remains controversial and the choice of primary repair or primary suprapubic cystostomy will depend on the philosophy and experience of the surgeon. Posterior urethral injury is associated with a high rate of stricture, incontinence and impotence. Suprapubic cystostomy and delayed treatment of any resulting stricture yields excellent long-term results and should be the treatment of choice when the patient is seriously ill or the surgeon inexperienced in urethral surgery.

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.

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.