Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease

The genetic defect in the p67phox-deficient form of chronic granulomatous disease (CGD) follows an autosomal recessive pattern of inheritance. When genomic DNA from normal individuals is digested with HindIII and probed with p67phox cDNA an allelic restriction fragment length polymorphism (RFLP) of 4.0 kb or 2.3 kb is detected. We cloned and characterized the p67phox gene using the cDNA and sequenced the exon/intron boundaries, mapping 16 exons on the 40-kb gene. The polymorphic region was then sequenced to identify the inheritance pattern of amniocentesis-derived fetal cells by genomic amplification. The proband, a 9-year-old female patient with p67phox-deficient CGD, and her phenotypically normal mother are homozygous for the RFLP marker, whereas the father and two brothers are heterozygous. The fetus was shown to be heterozygous as well, showing it had inherited at least one normal p67phox gene from the father and that it was predicted to have a normal phenotype. Cord blood samples at birth showed normal oxidative function. Amplification allows rapid detection of the inheritance pattern for fetal diagnosis in informative families. We report the genomic structure of p67phox and an amplification-based method for detection of the marker on chromosome 1q25, used here for prenatal diagnosis of CGD.     

PRE-HOSPITAL EMERGENCY CARE: EVALUATION OF AN AUSTRALIAN SYSTEM

The efficacy of the Sydney ambulance paramedic service in dealing with out-of-hospital cardiac and other emergencies was examined. The outcome of 182 cases (from a total of 1,799 casualty calls) treated by a paramedic service was compared with the outcome of 104 similar cases (from a total of 2,376 calls) treated by a general duties service. There were 33 cases of cardiac arrest in the general duties group; resuscitation was attempted in 12 and none survived. There were 49 cases of cardiac arrest in the paramedic group; resuscitation was attempted in 21 cases and 4 survived. There were 35 cases of suspected myocardial infarction in the general duties group; 7 died compared with 58 cases and 4 deaths, in the paramedic group (mortality 20%, cf. 7%; difference not significant). The increased cost of a paramedic call, less than half of an entire hospital day, appears justified by better results.     

Childhood Pityriasis Rosea

Abstract: Pityriasis rosea (PR) is an acute, self‐limiting papulosquamous disorder of unknown etiology. Published studies of childhood PR are scarce and most are reviews. The aim of this study was to determine the demographic and clinical features of childhood PR.     

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

Review of 20 patients with glucocorticoid deficiency (three cases also with salt loss) associated with absent tear secretion (19 cases) and achalasia of the cardia (15 cases) revealed neurological abnormalities in 17 including hyper-reflexia, muscle weakness, dysarthria, and ataxia together with impaired intelligence and abnormal autonomic function, particularly postural hypotension. These findings indicate that significant neurological problems are common in this multisystem disorder.