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Biomedical subjects

N Marlow

Publications and source records attributed to N Marlow.

70 records · Page 4Linked to original sources

Omenn's disease.

The importance of accurate pathological diagnosis is emphasised in the case of a newborn infant who presented with alopecia, a generalised erythrodermatous skin eruption, and hepatosplenomegaly. She subsequently developed generalised lymphadenopathy and recurrent septicaemia and died aged 2 months. The histological findings of widespread lymphocytic, histiocytic, and eosinophilic tissue infiltration, associated with thymic hypoplasia, were consistent with autosomal recessive Omenn's disease.

Alopecia↗

Five year outcome of preterm sextuplets related to size at birth.

Preterm sextuplets were studied to examine whether growth retardation affects long term outcome. All were growing normally at 5 years. Intelligence quotients (IQ) ranged from 105-116 and motor impairment scores from 1.0-7.0. No neurological or behavioural abnormalities were found. The largest sextuplet has maintained her position for growth and IQ. No relation between test scores and birth weight or perinatal variables was found in the remaining siblings.

Birth Weight↗

Alfentanil pharmacokinetics in preterm infants.

The pharmacokinetics of alfentanil were studied during the first four days after birth in 22 ventilated preterm infants who were all receiving muscle relaxants. Five minutes after a single dose of 20 micrograms/kg alfentanil median serum concentration was 66 ng/ml (range: 20-606). The median clearance was 0.87 ml/kg/min (range: 0.4-9.62) and median elimination half life 321 mins (64-1251). There were wide differences in the manner in which individual infants handled the drug and transient depression of blood pressure and heart rate was observed. These data were used to calculate an infusion dosage. In four infants 20 micrograms/kg alfentanil given by infusion over 30 minutes followed by 5 micrograms/kg/hour produced steady state median alfentanil concentrations of 54.5 ng/ml (range: 7-73 ng/ml) with no evidence of drug accumulation.

Alfentanil↗

Laterality and prematurity.

Lateral preferences were determined by postal questionnaire for 240 children, without major neurological impairment, who were born at less than 31 weeks' gestation to examine the association between neonatal brain injuries and later lateral preference. Left hand preference was reported in 64 (26.7%) children at a median age of 52 months (range: 24-104 months). Left foot preference was shown by 70 (29.2%) and left eye preference by 86 (35.8%). Significantly more preterm children were left handed compared with parents or siblings in whom expected frequencies of left handedness were found. All index children had serial neonatal cerebral ultrasound examinations, of which 95 were abnormal. Left preference occurred at similar frequencies in those with normal neonatal scans (26.9%), bilateral lesions (28.3%), left sided lesions (23.8%), and right lesions (23.8%). Lateral preference appears to be unaffected by the side or extent of neonatal brain injury in children without major impairments.

Brain↗

Motor skills in extremely low birthweight children at the age of 6 years.

Fifty three children aged 6 years old who had weighed less than 1251 g at birth without cerebral palsy and receiving mainstream education, were entered into a controlled study of motor skills. The index and control children were matched by age, sex, and school. The index group were considered by their teachers to have similar academic performances to their index group were considered by their teachers to have similar academic performances to their controls, although two index cases were receiving remedial teaching. On the test of motor impairment extremely low birthweight children had significantly more motor difficulties than controls. In addition, the index group had more minor neurological signs, lower intelligence quotients, and more adverse behavioural traits. The higher motor impairment scores among index children were independent of differences in intelligence quotient between the two groups. There was no association between impairment score and the presence or degree of periventricular haemorrhage or periventricular leucomalacia on neonatal cerebral ultrasound. Children with Apgar scores at five minutes of less than 7 had significantly higher impairment scores compared with those whose scores were 7 or more. Three perinatal factors (Apgar score at five minutes, neonatal septicaemia, and abnormal movements) explained 32% of the variance in impairment score at the age of 6 years. In children who do not have cerebral palsy perinatal factors may still be important in the development of motor skills. The presence of subtle neuromotor impairments at 6 years of age has implications for schooling that need further evaluation.

Child↗

Clinical factors associated with adverse outcome for babies weighing 2000 g or less at birth.

Using clinical factors, the probabilities of survival with and without major handicap were separately calculated by multiple logistic regression for 988 children who weighed 2000 g or less at birth and who were born in the period 1976-1980. For survivors weighing 501-1250 g in whom incidence of serious handicap was 21%, neonatal fits and the need for mechanical ventilation carried significantly increased risks of later serious handicaps. In contrast, for survivors weighing 1251-2000 g in whom the incidence of serious handicap was 6%, significant factors were spontaneous, uncomplicated preterm delivery, recurrent apnoea, and abnormal neonatal neurological findings. The probability of dying was assessed in two ways--firstly, using seven clinical factors available on admission to the neonatal unit, and secondly, using 10 perinatal and neonatal factors. Handicapped survivors had a perinatal risk between that of those babies who survived and that of those who died. Of the handicapped survivors, those with spastic diplegia and hemiplegia had been extremely low risk babies (medians 1.4% and 1.6%, respectively), whereas those with other impairments had much higher risks (range 17.5-38.1%). We postulate that certain impairments arise independently of clinical events, although most occur in children who had complicated perinatal courses.

Developmental Disabilities↗

Neurodevelopmental outcome of babies weighing less than 2001 g at birth: influence of perinatal transfer and mechanical ventilation.

From 1976 to 1980, 1034 children who had weighed less than 2001 g at birth were cared for at the North Western regional neonatal intensive care unit. Of these, 315 babies were neonatal referrals and 91 were born in the unit after antenatal transfer from their district hospital. Significantly fewer of the babies referred as neonates survived (n = 167, 53%) compared with 67 of the antenatal referrals (74%), and 490 of those born in the unit (78%). They also had a higher incidence of major handicaps (24 of 167, 14%) compared with six of 67 (9%) of the antenatal referrals and 35 of 490 (7%) of those born in the unit. To control for selection bias among neonatal referrals, the outcome of ventilated neonatal referrals was compared with that of ventilated babies born in the unit. The two groups were comparable for the incidence of a wide range of neonatal complications. No differences in rates of survival or handicap were found. We conclude that sick babies transferred after birth to regional neonatal intensive care units have similar short and long term outcomes to sick babies born in regional units.

Blindness↗

Neurodevelopmental outcome in babies weighing less than 2001 g at birth.

From 1976 to 1980, 1034 infants with birth weights of 500-2000 g were cared for in the neonatal medical unit; 724 were discharged. Twenty (2.8%) subsequently died and 654 (90.3%) were followed up at a median age of 3 years 3 months. Fifty five (7.6%) survivors had major neurodevelopmental handicaps not attributable to congenital anomalies. Increasing prevalence of major handicap was found with decreasing birth weight and gestation. Children with birth weights of less than 1251 g had a higher incidence of all major disabilities. Handicapped children with a birth weight less than 1251 g were more likely to have blindness, deafness, multiple disabilities, and more severe cerebral palsy. There were 146 (20.2%) children with minor disabilities: neurological impairments (n = 11), borderline results on psychometric testing (n = 18), visual impairments (n = 52), hearing impairments (n = 40), and speech impairments (n = 71). Children weighing less than 1251 g at birth had a higher incidence of minor visual and hearing impairments. In 389 children the mean Griffiths quotient was 101.6 (SD 17.2) (range 50-147), and 158 children had a mean Wechsler preschool and primary intelligence quotient of 101.8 (13.2) (range 56-127): these quotients did not vary with birth weight or gestation but did vary with socioeconomic group, schooling, and family structure. During the study period an improving prognosis in terms of both survival and handicap was observed in children weighing less than 1251 g at birth.

Blindness↗

Cardiac tamponade following varicella.

An 18-month-old girl presented with cardiac tamponade five weeks after varicella. An emergency pericardiocentesis was performed and, subsequently, an anterior pericardiectomy. She eventually made a complete recovery following corticosteroid treatment.

Cardiac Tamponade↗

Mitral valve disease in Marfan's syndrome.

Cardiovascular disease in Marfan's syndrome presenting in childhood affects the mitral valve more often than the aortic valve or the aorta, as in adults. Early evaluation of the cardiovascular system is necessary for any child in whom Marfan's syndrome is suspected.

Female↗

Glutaric aciduria type 1: biochemical investigations and postmortem findings.

Glutaric aciduria type 1 (GA1; deficiency of glutaryl - CoA dehydrogenase) was diagnosed in a 6.5-month-old female infant. Despite a good biochemical response to dietary reduction of lysine and tryptophan, there was no clinical response to diet nor to riboflavin therapy and her neurological condition deteriorated progressively until her death at 10.5 months. At postmortem examination only mild neuropathological abnormalities were found in contrast to previous reports of this condition. High levels of glutarate were found in liver, skeletal muscle, heart muscle and aqueous humor. Eye fluid which is readily available, may be a useful material for the postmortem diagnosis of this, and other organic acidurias when urine is not available.

Brain↗

Congenital ring constrictions with entrapment neuropathies.

An eight year old boy with multiple simple congenital ring constrictions is described with peripheral nerve palsies caused by entrapment in the constrictions. It is suggested that ring constrictions should be considered in the differential diagnosis of entrapment neuropathy.

Child↗