Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome

We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.     

Enhanced cardiac performance following cardiopulmonary bypass

Changes in cardiac performance during coronary revascularization surgery were followed in 22 selected patients with normal or mildly impaired left ventricles; vasoactive or inotropic drugs were generally avoided. Arterial pressure, filling pressures, and cardiac output were measured; stroke volume and work were calculated before induction of anesthesia, following sternotomy, soon after discontinuation of extracorporeal circulation, and one hour postoperatively. Induction and sternotomy were associated with a depressant effect on cardiac performance. After extracorporeal circulation, however, cardiac performance recovered, cardiac output increased to 7 +/- 0.5 l/min from a preoperative control of 4.9 +/- 0.3 L/min (p less than 0.002) without an elevation of atrial pressures. This increase in cardiac output after bypass resulted from decreased afterload and increased preload secondary to hemodilution. Cardiac performance approached control values early in the postoperative period.     

Further evidence for the involvement of kinin in anaphylactic shock in the rat

1. Sodium phenylbutazone, soya bean trypsin inhibitor, or the concomitant administration of ascorbic acid and mepyramine protected rats against anaphylactic shock at 10 days after sensitization but gave no protection against anaphylaxis at 20 days.2. During anaphylactic shock in rats at 10 days after sensitization, the plasma bradykinin and bradykininogen levels, as well as those in the intestinal lumen and peritoneal cavity, were markedly raised.3. The results support the hypothesis that there are two phases in anaphylaxis in the rat-an early phase in which bradykinin is a mediator and against which phenylbutazone or soya bean trypsin inhibitor or the mixture of ascorbic acid and mepyramine, give protection, and a late phase which does not involve bradykinin.     

A reproducible canine model of nonocclusive mesenteric ischemia

A technique for producing a reliable, clinically applicable, and highly reproducible canine model of nonocclusive mesenteric ischemia was developed. Following left thoracotomy in 10 dogs, a 1 mm diameter soft polyethylene tube was inserted into the pericardial space via a small puncture site. This tube was sealed in place with cyanoacrylate tissue adhesive. A solution of 10% Dextran 40 in saline was infused into the pericardial space until a 50% reduction (as monitored by electromagnetic flowmeter) in superior mesenteric artery flow (SMAQ) was obtained. Without additional intrapericardial infusion of the Dextran solution, SMAQ was reduced 51 +/- 4% to 54 +/- 3% of control values during a 60 minute post-tamponade observation period. During the same time. Cardiac output was depressed between 40 +/- 8% and 54 +/- 3%, and right atrial pressure remained elevated between 164 +/- 15% and 171 +/- 15%. Systemic arterial pressure initially dropped 28 +/- 5% but compensated to within 11 +/- 5% of pre-tamponade level at 60 minutes. The stability of this model is well suited for evaluating new experimental diagnostic and therapeutic procedures.     

Auditory brain stem potentials in monkey (M. mulatta) and man.

Auditory brain stem potentials were mapped over the head of the rhesus monkey following monaural clicks. Latency and amplitude were dependent upon the recording site. No electrically indifferent point could be found on the head or neck. The results are interpreted as showing that waves I and V originate from single generators, whereas waves, II, III and IV originate from bilateral structures. Latency varied in a linear fashion with changes in intensity and click rate. In contrast there were variations in amplitude of the potentials independent of stimulus change. A comparison was made of auditory brain stem potentials in man, monkey, cat and rat to demonstrate the similarity of the responses across species.     

Complex of secundum atrial septal defect and congestive heart failure in infants.

Five infants with intractable congestive heart failure due to ostium secundum atrial septal defect (ASD) are presented. All survived ASD closure and are doing well. Correction of this defect in infancy should be considered when medical therapy is unsuccessful.