Biomedical subjects
Publications and source records attributed to N McIntosh.
We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome.
We report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities. Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may, in some cases, be an autosomal recessive trait.
The Ebstein anomaly is a rare congenital heart disease involving the position and structure of the tricuspid valve. Although most cases are sporadic, familial occurrence has been documented. We report on 2 sisters, born to consanguineous parents, who were diagnosed prenatally with severe Ebstein anomaly.
A premature baby born up to four months early is a fragile patient dependent on intensive care. The body systems are physiologically immature and so tolerate stress badly. The tendency of these infants to rapidly deteriorate, has led us to use a cotside computer monitoring system which displays physiological trends. Information from standard neonatal monitors is accessed by individual cotside PC's linked to a central network server and Doctors terminal. Trend graphs can be easily manipulated, displaying from 7 minutes to 3 days of physiological information on a single screen. Pathology may be observed in real time as it occurs. The system has 3 main areas of use, (a) as a real time clinical aid to patient management, e.g. apnoea of the newborn; (b) as a research tool, demonstrating the effects of procedures on physiology; (c) for educating members of staff about how physiological events develop. Data is saved for the whole of each neonates intensive care stay. Assessment of staff and parent attitudes by questionnaire have been favourable.
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In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.
The effects of the Angelchik prosthesis on esophageal and gastric function were investigated in 17 patients (11 men and six women; median age, 57 years; age range, 36 to 88 years) who underwent surgery for treatment of gastroesophageal reflux disease. All patients demonstrated unequivocal reflux, either at endoscopy or 24-hour pH testing. There was a significant increase in lower esophageal sphincter pressure after surgery, and no patient demonstrated abnormal reflux on pH testing. Gastric emptying of liquids and solids was not altered by surgery. Six months after surgery, all symptoms except dysphagia had significantly improved. Thirty-three months after surgery, six patients described symptoms as severe as or worse than those before surgery. Four patients had the prosthesis removed, two because of dysphagia alone, one because of reflux and dysphagia, and one because of flatulence and bloating. The patients who required removal of the prosthesis because of dysphagia had gross delay of esophageal emptying. We conclude that the Angelchik prosthesis is an effective antireflux device, but it interferes with esophageal function in some patients, requiring removal of the prosthesis. We think the rate of removal of the prosthesis is too high for its routine use in the treatment of gastroesophageal reflux disease.
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The aim of this study was to assess a newly developed computerized tomography (CT)-based splenic injury index in predicting the outcome of splenic injury. Twelve patients with isolated splenic injuries were studied. Splenic parenchymal injury was graded from 1 to 4 based on CT. The splenic injury index was obtained by multiplying the parenchymal score by the volume haemoperitoneum, which was measured on the CT scanner. The 12 patients with CT-proven splenic injuries had a mean injury index of 193.5 +/- 191 (mean +/- s.d.). The 3 patients who failed conservative management had a mean index of 475 +/- 50, compared with an index of 99.5 +/- 100 in the nine managed non-operatively (P less than 0.001). This new CT-based splenic injury index allows morphological assessment of splenic injury and may predict the outcome of splenic trauma.
The temperature changes associated with total care nursing procedures were studied on 249 occasions during the first week of life in 25 preterm infants weighing less than 1500 g, 16 of whom weighed less than 1100 g. Large drops in both central and peripheral temperature occurred, with widening of the central-peripheral temperature gap. Recovery of the temperature after the total care procedure took up to two hours. These routine nursing procedures are carried out every four to six hours. They cause an important alteration in the environmental temperature with consequent thermal stress to the infants that may influence ultimate outcome.
Serial measurements of urinary arginine vasopressin (AVP) were made in six severely birth asphyxiated newborn infants. In five infants serial plasma concentrations were also evaluated. There was a strong negative correlation between plasma AVP and plasma osmolality in these infants (r = -0.52, P = 0.0012). In neither the individual babies nor the group as a whole was there a significant correlation between plasma AVP and the urinary excretion of AVP even if the latter was standardised for creatinine content. Normal development at follow up was only observed in two asphyxiated infants who had consistently low urinary arginine vasopressin levels in the first days of life. Infants with consistently high urinary vasopressin concentrations either died or were severely abnormal in their subsequent development.
Day to day reproducibility of the response to programmed ventricular stimulation has not been evaluated in survivors of acute myocardial infarction. Programmed ventricular stimulation was performed prospectively on 2 consecutive days in 56 patients on an average of 12 +/- 5 days (range 7 to 29) after an acute myocardial infarction. No patient had a history of documented or suspected sustained ventricular tachycardia or fibrillation occurring greater than 48 h after infarction. During initial programmed ventricular stimulation, 21 patients had induction of sustained ventricular tachycardia or fibrillation (Group I), and 35 patients had induction of either nonsustained ventricular tachycardia or no ventricular tachycardia (Group II). Repeat programmed ventricular stimulation in Group I patients induced sustained ventricular tachycardia or fibrillation in 16 of 21 patients (reproducibility 76%); the maximal induced response in the other 5 patients was nonsustained ventricular tachycardia in 2 patients and fewer than six repetitive ventricular responses in 3 patients. The day to day reproducibility was significantly higher for inducible sustained ventricular tachycardia of cycle length greater than or equal to 240 ms compared with rapid sustained ventricular tachycardia of cycle length less than 240 ms (100% versus 44%, p less than 0.009) or ventricular fibrillation (100% versus 43%, p less than 0.009). Repeat programmed ventricular stimulation in Group II patients did not induce sustained ventricular arrhythmias in 31 of 35 patients (reproducibility 89%). Thus, in survivors of acute myocardial infarction, inducible slow sustained ventricular tachycardia was a highly reproducible finding, whereas inducibility of rapid sustained ventricular tachycardia and ventricular fibrillation showed a significant day to day variability.(ABSTRACT TRUNCATED AT 250 WORDS)
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Metabolic balances were carried out in nine preterm very-low-birth-weight (VLBW) infants, five of whom were fed on expressed breast milk and four on a preterm formula. In 39 stool samples from these infants, there was a very close relationship between the fecal fat and the fecal water (r = -0.95; p less than 0.001), independent of the type of feed. This relationship was present over a very wide range of fat and water contents. Validation experiments confirmed the reproducibility and reliability of this relationship. The correlation is clinically and experimentally so close that measurement of stool water by freeze-drying a sample is an accurate indirect measure of fecal fat in VLBW infants when the daily stool weight was known.
Eleven very low birthweight babies being ventilated for respiratory problems during the first week of life developed air leaks on 22 occasions. On 16 out of 19 occasions the infants showed increases in urinary excretion of vasopressin after these events and on 10 occasions out of 13 there was a rise in the plasma arginine vasopressin concentration. The peripheral signs of the syndrome of inappropriate antidiuretic hormone release were seen on only one occasion in response to the sometimes high vasopressin concentrations.
Sixty eight neonates requiring total or supplemental parenteral nutrition in the first week of life were randomly allocated either Vamin 9 glucose (n = 34) or MB233G (n = 34) in a double blind trial. Twenty infants were withdrawn: four because they died before 5 days of age and 16 because the amino acids were required for less than the five days of the trial. The solutions were isocaloric (1.6 MJ/l, 380 kcal/l) and with the same nitrogen content (2.79 g/l) and were infused at rates and volumes determined by clinical staff on the basis on the infants, clinical condition and serum electrolyte biochemistry. There was an excess of deaths in the group treated with Vamin 9 glucose particularly related to babies weighing greater than or equal to 1000 g. Infants less than 1000 g receiving the Vamin 9 glucose preparation required amino acids for twice as long. There was no significant difference between the weight losses or head circumference during the study period. Plasma aminograms in the group receiving Vamin 9 glucose showed concentrations of phenylalanine, tyrosine, proline, serine, and aspartic acid to be significantly higher than the reference range. Multiple regression analysis suggested that phenylalanine was the primary abnormality. The intravenous amino acid preparation MB233G maintained the plasma aminogram of newborn infants within the reference range of normal newborn infants.
Aldosterone is important in the regulation of sodium conservation by both kidney and colon. In the very preterm neonate marked urinary salt wasting occurs because of immature renal tubular function, but little is known of the ontogeny of colonic transport processes. Using an in vivo rectal dialysis technique, we have shown that in the human infant the colon has well developed salt conserving mechanisms from early in the last trimester of gestation and that aldosterone is an important regulatory hormone. Sodium transport mechanisms in the colon appear to develop before those in the kidney and it is possible that the colon is the major organ of sodium conservation in the preterm neonate.