A 3-year survey of subaponeurotic haemorrhage (January 1991 to December 1993) in a tertiary referral centre in Hong Kong revealed that the incidence of this life-threatening condition was 6.4 per 1000 ventouse-associated deliveries, which is 60-fold more common than with other modes of childbirth. We highlight a lesser known phenomenon of marked male predominance (male to female ration 8:1). Three of 18 (17%) infants with subaponeurotic haemorrhage died. Severe subaponeurotic haemorrhage with a decrease in venous haematocrit >25% of the baseline value at birth and requiring urgent blood transfusion in the first 12 h, in association with significant birth asphyxia with arterial cord blood pH <7.20 and 1-min Apgar score < or = 3 were the most important risk factors for death. A worrying feature was the silent presentation of occult subaponeurotic haemorrhage in two of the fatal cases. Frequent monitoring of haematocrit, early and rapid restoration of blood volume and prompt commencement of cardiac inotropes are the keys to the management of this condition, which should be suspected in all ill newborn infants subjected to the ventouse applicator.
The cost of sequencing and genotyping is aggressively decreasing, enabling pervasive personalized genomic screening for drug reactions. Drug-metabolizing genes have been characterized sufficiently to enable practitioners to go beyond simplistic ethnic characterization and into the precisely targeted world of personal genomics. We examine six drug-metabolizing genes in J. Craig Venter and James Watson, two Caucasian men whose genomes were recently sequenced. Their genetic differences underscore the importance of personalized genomics over a race-based approach to medicine. To attain truly personalized medicine, the scientific community must aim to elucidate the genetic and environmental factors that contribute to drug reactions and not be satisfied with a simple race-based approach.
We report a case of misalignment of pulmonary vessels and review the clinical features of all 13 cases reported to date. All were term infants dying from severe persistent pulmonary hypertension of the newborn. We have identified a triad of features that will alert neonatal clinicians to the possibility of this diagnosis: association with other non-lethal congenital malformations; delayed onset of presentation (especially after 12h); and severe hypoxaemia refractory to conventional therapy. We recommend that any autopsy on newborn infants include a specific search for misalignment of pulmonary vessels to outline the pathophysiology and clinical significance of this disorder.
Atopic dermatitis (AD) is associated with loss or reduced expression of filaggrin (FLG). We evaluated five FLG null mutations, namely R501X, 2282del4, R2447X, S2554X, and S2889X, in 174 Chinese children with AD and 191 matched controls. 2282del4, R2447X, S2554X and S2889X mutations were not found in these patients. Heterozygous carriage of R501X was only found in four male patients, and associated with long-term disease severity. FLG mutations prevalent in Caucasian and other Asian populations are rarely found in our series.
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