Weyers'' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

We describe a two generation family with variable ulnar and radial ray reduction and midline craniofacial abnormalities. The features suggest a diagnosis of Weyers' ulnar ray/oligodactyly syndrome originally described in two isolated cases. Syndromes of ulnar ray reduction are briefly reviewed and the relationship between limb bud and midline development discussed.     

Hyaline membrane disease treated with bovine surfactant

Six preterm infants with severe hyaline membrane disease requiring ventilation were treated, at a median age of 15.5 hours, with a single intratracheal bolus of a bovine surfactant suspension. Arterial oxygenation increased dramatically, and chest radiograms showed improvement after two to four hours. However, a variable degree of deterioration occurred within 24 hours. All of the infants required oxygen therapy for several weeks, and one developed severe bronchopulmonary dysplasia.     

Comparison of IgG subclasses in foetal serum, maternal serum at delivery and milk in IgA-deficient and control women

Immunoglobulin G subclass concentrations were measured in paired foetal (cord) and maternal serum specimens at delivery from 27 IgA-deficient (serum IgA < 0.01 g/l) and 15 control women. IgA-deficient women had significantly higher serum IgGl and IgG3 concentrations than control women but 2 of the group had concomitant IgG2/IgG4 deficiency and a further 12 had low IgG4 concentrations (serum IgG4 < 0.025 g/l). Foetal serum also had significantly higher IgGl concentrations than control foetal serum but lower IgG2 and IgG4 levels. Concentrations of IgG subclasses and IgM were measured in breast milk collected on the fifth day postpartum from 19 of these IgA-deficient and 18 control women. Between-group differences in IgG subclass levels resembled those in serum. Compared with serum, proportionally less IgG3 was present in milk in both groups although the contribution of IgG3 to total IgG was not less than that of IgG4. Slightly higher IgM was found in milk from the IgA-deficient mothers.     

A controlled study of children born at gestation 28 weeks or less: psychological characteristics at seven to ten years of age

Forty seven children aged between seven and ten years who were born at 28 weeks gestation or less were followed up and assessed using psychometric tests, questionnaires and a parental interview. Birth and post-birth medical details were also collected. A control group of 47 normal gestation/birth weight children, matched with the children in the low gestation (LG) cohort on nine other criteria, were assessed using the same procedures. Children in the LG cohort were of average intelligence and attainment, but differed from the control group in that they had significantly lower scores on the WISC-R (VIQ, PIQ and FSIQ, Freedom from Distractibility), information processing, visual motor memory, speech and auditory discrimination, mathematics, spelling and restlessness. Handedness was related to birth weight. In addition to birth weight, centile score (weight in relation to gestation) was found to predict later FSIQ, VIQ and reading, spelling and mathematics. Neurological factors such as the absence of suspected intracranial haemorrhage or seizures were predictors of PIQ and Freedom from Distractibility, respectively. Although children in the LG cohort scored significantly lower than control children on various cognitive tests, only two had Full Scale IQs below 70 and most functioned at least at the normal range of intelligence.     

Anaesthesia for urological surgery

A wide variety of patients present for urological surgery, from young fit patients to the elderly with multiple co-morbidities. Urological surgery ranges from minor, minimally invasive procedures to major surgery with significant physiological disturbance. It presents several specific challenges to anaesthetists. In day-case urology, a rapid turnover of patients, many of whom are elderly with significant co-morbidity, is required. General anaesthesia, with the patient breathing spontaneously through a laryngeal mask, is often used. Transurethral resection of prostate (TURP) has a specific complication, TURP syndrome, which occurs when excess irrigation fluid is absorbed, causing hypervolaemia and hyponatraemia. Spinal anaesthesia is often chosen because it allows early identification of the neurological deterioration seen in this condition. For major urological procedures careful preoperative assessment is essential as the incidence of cardiorespiratory co-morbidity is high. This assessment, in conjunction with the nature of the surgery, will guide preoperative investigations. Cardiopulmonary exercise testing has been shown to identify high-risk patients and may be helpful. General anaesthesia, with intermittent positive pressure ventilation, and an epidural is the technique of choice. There is a risk of major blood loss, so blood must be cross-matched and available. Large-bore access and invasive monitoring are needed. A careful assessment and appropriate management of fluid balance, using a goal-directed system, is important. Temperature should be monitored and normothermia maintained. Meticulous patient positioning and protection of pressure areas is essential to prevent nerve damage and compartment syndrome in prolonged procedures. Postoperative high-dependency care is beneficial.     

Problems of detecting mosaicism in skin. A case of trisomy 8 mosaicism illustrating the advantages of in situ tissue culture

A case of mosaic trisomy 8 is described and the accuracy of flask culture and in situ culture techniques in detecting chromosomal mosaicism in tissues discussed. The advantages of the in situ method are illustrated and the importance of mixed colonies in defining mosaicism highlighted. The implications for prenatal diagnosis of mosaicism are pointed out.     

Glucagon for hypoglycaemia in infants small for gestational age.

Twenty five infants who were small for gestational age received glucagon (0.5 mg/day by continuous infusion) in the treatment of hypoglycaemia. Twenty responded within three hours with a rise in blood glucose concentration to above 4 mmol/l. Five subjects subsequently required hydrocortisone to maintain glucose concentrations. Rebound hypoglycaemia occurred in nine infants after rapid discontinuation of glucagon or interruption of the intravenous infusions. Response was poor after maternal beta blockade.     

Pharyngeal dermoid leading to respiratory failure in a neonate

Difficulty in resuscitating a neonate using bag and mask ventilation was followed by later episodes of apnoea and cyanosis. Intubation relieved the respiratory failure and revealed a large fleshy polyp obstructing the posterior pharynx. Computerised tomography showed there was no superior extension of the lesion and the polyp was removed completely on operation. Histological examination showed this lesion to be a dermoid or Hairy Polyp.Abbreviation IPPV intermittent positive pressure ventilation     

Surgical treatment of necrotizing enterocolitis: a population-based study in the Grampian region, Scotland

Ninety-two cases of necrotizing enterocolitis (NEC) were diagnosed in the Grampian Region of Scotland between 1978 and 1984, for a regional incidence of 2.2/1,000 live births. Twenty-seven cases (29.3%) required surgery, 19 acutely and eight for delayed stricture. Acute operative mortality was 10.5%. Disease-related mortality was 3.3%, and overall mortality was 8.7%. Follow-up ranged from 15 to 77 months for surgical patients, with only three of 23 survivors having increased bowel frequency.