VACTERL with hydrocephalus: family with X-linked VACTERL-H.

We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/3), and cardiac abnormalities (1/3). X-linked inheritance seems certain in this family. These abnormalities are characteristic of the rare X-linked VACTERL-H syndrome. In addition, one maternal female cousin had a severe tracheo-esophageal fistula. This may represent partial manifestation in a female carrier. Chromosomes were apparently normal (46XY) with no spontaneous or excess induced breakages in one of the affected offspring and his mother. In the absence of a genetic marker, diagnostic ultrasonography is the investigation of choice for early in utero detection of this syndrome. A confident ultrasonographic diagnosis was possible by 20 weeks in the 2 cases examined.

Thallium-201 myocardial SPECT in myocardial bridging.

Myocardial bridging is an uncommon condition where a major coronary artery is bridged by a band of muscle and narrows during systole, particularly during rapid heart rates. We present a patient with typical angina and angiographically proven 60% systolic bridging of the left anterior descending artery distal to the first perforator. Postexercise SPECT 201TI scanning demonstrated a severe reduction of perfusion to the septum and a moderate reduction of perfusion to the anterior wall of the left ventricle. Redistribution images demonstrated good reversibility of the perfusion defects indicating reversible myocardial ischemia. This case provides additional supportive evidence that myocardial bridging may cause myocardial ischemia.

Gallium-67 scintigraphy in borderline lepromatous leprosy.

A middle aged woman with a pyrexia of unknown origin was shown to have borderline lepromatous leprosy. Early gallium-67 scintigraphy demonstrated increased uptake in the subcutaneous tissues of the face and thighs. As a result of these findings skin biopsy was obtained from the right thigh which gave a diagnosis of borderline lepromatous leprosy. The authors have been unable to find other reports of gallium-67 scintigraphy in leprosy but the pattern of gallium-67 distribution should suggest the diagnosis.

A clinical comparison of Technegas and xenon-133 in 50 patients with suspected pulmonary embolus.

A comparison of "Technegas" and xenon-133 was performed in 50 patients presenting with a clinical diagnosis of pulmonary embolus. All patients underwent studies with xenon inhalation, Technegas inhalation, and macroaggregated albumin perfusion. Technegas is a new ultrafine ventilatory agent with a particle size of 50 to 200A produced from technetium pertechnetate and graphite in an argon environment. Although particulate in nature, Technegas is transported and diffuses like a gaseous agent. Its production results in a high specific activity yield with high efficiency. There is no significant deposition in the central airways, and good peripheral visualization of the lung is obtained. The study was designed to assess whether Technegas could be used as a ventilatory agent to obtain high-quality diagnostic images. All studies were reported as in normal clinical practice, and no statistical analysis was performed. The aim of the study was simply to see what role Technegas had in a busy clinical department and how well it reflected ventilation by comparison with xenon. Patient compliance with Technegas was 100 percent and for xenon was 94 percent. Technegas enables one to obtain high-quality ventilatory images and has an important role to play in the assessment of pulmonary ventilation.

Lung ventilation studies with technetium-99m Pseudogas.

Technetium-99m Pseudogas is an ultrafine near monodisperse aerosol of 0.12-microgram diam particle size. This report describes initial clinical experiences with 27 patients referred for investigation of suspected pulmonary embolism, and in whom Pseudogas ventilation images were compared with a high quality commercial aerosol. An additional group of ten patients with severe COPD was examined in a comparative trial of Pseudogas with 81mKr. Pseudogas was better than a conventional aerosol in reaching a diagnosis of pulmonary embolism using a simple blinded comparison with coded images. In addition, bronchial deposition was minimal unless COPD was severe. Moderately well patients had no difficulty inhaling the necessary activity in one or two breaths, and even severely ill and frail aged persons could accomplish the passive breathing maneuver in less than a minute. Clearance of Pseudogas was directly to the systemic circulation with a half-time of 10 min in normal subjects extending up to 100 min in patients with airways disease.

Identification of factors affecting technetium 99m leucocyte labelling by phagocytic engulfment and development of an optimal technique.

Human autologous leucocytes can be simply and reproducibly labelled by phagocytic engulfment of technetium 99m stannous colloid with high leucocyte-labelling efficiency (LLE), similar human biodistribution to indium-111-oxine labelled leucocytes and good cell viability. A mean particle size of 2.1 microns is optimal for phagocytosis and the most important parameter in maintaining reproducibly high neutrophil uptake. It is more critical than hitherto appreciated. When such variables as type of colloid, purity of starting materials, speed of mixer rotation when preparing colloid and labelling leucocytes, heparin concentration, freshness of colloid preparation, type of sterilising membrane filter used and incubation time of cells with colloid are rigidly controlled, consistent labelling efficiencies in excess of 90% can be obtained with neutrophil predominance. The lyophilised kit tested produced suboptimal results.