Maternal phenylketonuria.

A mother with phenylketonuria and hyperphenylalaninaemia of 960 mumol/L with four intellectually deficient offspring is described. In addition a mother with hyperphenylalaninaemia of 2100 mumol/L and two intellectually deficient microcephalic children is described. None of the affected children exhibited elevations of blood phenylalanine. In utero phenylalanine toxicity was considered a factor causing the handicaps.

Progress in chronic mesenteric arterial ischemia.

Analysis of surgical treatment for chronic mesenteric arterial occlusive lesions in 45 patients between 1964 and 1986 has shown an evolution in diagnostic criteria, indications for operation, and surgical technique. Prior to 1976, a variety of surgical procedures (diaphragmatic crus release, arterial dilation, patch angioplasty, reimplantation, endarterectomy) were employed in treatment of patients with a wide range of symptoms and variation in number of mesenteric vessels involved. Since 1976, we have selected patients with "typical" symptoms (postprandial epigastric pain, fear of eating, weight loss) and 2 or 3 vessel disease, and have avoided surgery for celiac crus lesions. Typical symptoms were seldom present in isolated celiac artery crus compression, 4 of 15 pts (23%), but were often present with 2 or 3 vessel disease, 17 of 28 pts (61%, p = 0.03). Satisfactory resolution of pain was achieved in 18 of 24 pts with 2 or 3 vessel disease. We conclude that presence of "typical" symptoms and angiographic findings of 2 or 3 vessel disease are prerequisites for effective surgical treatment. Bypass graft is our surgical technique of choice, but the extent of arterial reconstruction required to relieve symptoms remains undefined.

Antegrade aortorenal bypass graft: a new alternative.

The search for a site of origin for renal artery bypass grafting other than the inclusion aorta has resulted in a variety of recommendations, including use of the splenic, hepatic, gastroduodenal, and superior mesenteric arteries and even retrograde bypass grafts originating from the iliac artery. The present study has described our early experience with a new procedure utilizing an antegrade aortorenal bypass graft originating in the mediastinal supraceliac aorta. Eight patients underwent operation; four for renovascular hypertension and four for renal salvage plus hypertension. There were no operative deaths. All grafts (three saphenous and five polytetrafluoroethylene) functioned well, as judged by clinical response and renal scan. One graft failed at 6 weeks. Hypertension was cured in three patients and improved in four at a mean follow-up of 27 months (range 3 to 58 months). Improved hemodynamic performance of antegrade flow, avoidance of liver and biliary complications, and applicability to the right or left kidney are the advantages of this technique. When renal artery reconstruction is required and the infrarenal aorta is to be avoided, we believe this operation is a useful alternative.

Improved results of surgical treatment for esophageal and gastroesophageal junction carcinomas after preoperative combined chemotherapy and radiation.

Combined treatment with chemotherapy and radiation (chemoradiation) preceding surgical exploration for esophageal or gastroesophageal squamous cell carcinoma or adenocarcinoma was compared with surgical exploration alone to determine if there was an influence on tumor status at exploration, tumor resectability, disease recurrence, and patient survival. Preoperative chemoradiation resulted in significant tumor response as measured by decreased nodal involvement and 36% incidence of no residual tumor at resection (total response) and was reflected by an improvement in resectability. Local tumor recurrence was eliminated by preoperative chemoradiation preceding resection. Distant recurrence was not reduced and remained the major cause of death. The 2-year survival rate after tumor resection alone was 33% versus 66% after preoperative chemoradiation and resection (p = 0.13). Patient survival after resection alone was predicted by pathologic extent of local disease as measured by lymph node status. In contrast, survival after chemoradiation and resection was not predicted by pathologic extent of local disease. Surgical resection appears to have been an important component of therapy, primarily because survival was improved in patients after resection of residual local disease.

Temporal clustering of transient erythroblastopenia (cytopenia) of childhood.

A temporal cluster of four cases of transient childhood erythroblastopenia is described. In all cases there was an associated transient neutropenia and in one case a transient mild thrombocytopenia. In all cases reticulo-endothelial iron overload was a prominent feature but there was no evidence of a pre-existing chronic haemolytic state. All children made a full recovery with only supportive treatment, although in three cases blood transfusion was necessary.

Prevention of wound infection after elective colorectal resection.

Various operative wound handling techniques have been proposed to prevent wound infections after elective colorectal resection, including pelvic drains, wound wicks, topical antibiotics, and subcutaneous drains. Review of 243 consecutive elective colorectal resections performed between 1977 and 1983, in which 64 percent of the patients had significant underlying medical problems, 27 percent were over age 70, and 45 percent had concomitant abdominal procedures, revealed that consistent application of a uniform perioperative protocol emphasizing aseptic and antiseptic techniques minimizes wound and anastomotic infectious complications. Simple wound closure in this setting is sufficient to prevent incisional wound infections.

Acute lymphocytic leukemia in children presenting with bone marrow necrosis.

Bone marrow necrosis has been regarded as an indicator of very poor prognosis in malignant disease. The cause and incidence are unknown, and reports of treatment response are few. We describe four children with marrow necrosis at presentation with acute lymphocytic leukemia (ALL), all of whom entered remission with standard treatment showing complete marrow healing. The bleak outlook for patients with marrow necrosis based on early experience in adults with disseminated malignancy does not appear to apply to children with ALL. The incidence of marrow necrosis at diagnosis of childhood ALL is 1%.

Isolation of malignant cells from human bone marrow using a discontinuous Percoll gradient.

A technique for examining relatively large volumes of bone marrow for involvement by malignancy is described. The use of discontinuous Percoll gradients offers no advantage over conventional methods in the diagnosis of hematological malignancy. Its usefulness in detecting infiltration by solid tumor is uncertain. Complete exclusion of malignancy from the fraction containing hematologic stem cells in three patients raises the possibility that this technique is a useful adjunct to other methods of marrow purging before autologous marrow rescue in malignant disease.

Localization of abnormal parathyroid glands using thallium-201.

Ectopically located parathyroid adenomas may be difficult to find during initial neck exploration. They account for over 70 percent of missed adenomas found at reexploration. Preoperative localization of parathyroid adenomas would reduce unnecessary dissection and possibly reduce the number of negative results of initial neck exploration. Before reoperative parathyroid surgery is performed, some means of localization is mandatory to detect ectopic adenomas in the neck and mediastinum. Computed tomography and ultrasonography cannot effectively evaluate the mediastinum. Angiography and venous parathyroid hormone sampling are invasive, costly, and tedious to perform. We have shown that thallium-201 will accurately localize ectopic parathyroid adenomas. All 10 adenomas found in positions not immediately adjacent to the thyroid gland were detected by thallium-201 scintigraphy. One was a mediastinal adenoma resected with a median sternotomy. Our results suggest that thallium-201 scintigraphy should be the initial localization procedure of choice before all reexplorations. Its use before initial explorations, as well, will enable the surgeon to immediately direct attention to the area of the localized adenoma. If mediastinal uptake is found to be present, then median sternotomy may be performed during initial surgery provided a thorough neck exploration is performed first.