Laboratories should spot haemoglobin variants.
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Biomedical subjects
Publications and source records attributed to A Gunneberg.
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OBJECTIVES: To assess whether attendance at the site after an incident in a sewer was associated with symptoms in emergency personnel and whether the prevalence of symptoms was associated with estimated levels of exposure to any chemical hazard. METHODS: Symptoms experienced by people attending an incident involving two dead sewer workers suggested the presence of a chemical hazard, before environmental sampling confirmed any toxic agent. Self reported symptoms, estimated exposures, and biomarkers of exposure for likely agents from all 254 people who attended the incident and a referent occupational group matching the 83 emergency personnel who went to the Accident and Emergency department (A and E) in the first 48 hours were recorded. The prevalence of symptoms and concentrations of creatine phosphokinase in serum of the 83 early patients at A and E were compared with their referent occupational group. In all workers who attended the incident, the trends in symptom prevalences and concentrations of creatine phosphokinase in serum were examined by distance from the site and predefined exposure category. RESULTS: Among all workers who attended the incident, symptoms of shortness of breath and sore throat were significantly associated with indirect estimates of exposure but not associated with concentrations of creatine phosphokinase. Freon was detected in two blood samples. The early patients at A and E reported more symptoms than their matched reference group and their median concentrations of creatine phosphokinase were higher. CONCLUSIONS: The association between symptoms and concentrations of creatine phosphokinase with attendance at the site indicated the presence of a continuing hazard at the site and led to extra precautions being taken. Comparison values from the referent occupational group prevented unnecessary medical follow up.
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OBJECTIVES: To evaluate the effectiveness of a programme for antenatal screening for Down's syndrome using alpha fetoprotein and total human chorionic gonadotrophin as maternal serum markers. SETTING: A district general hospital providing a screening service to a local purchasing authority and (under contract) to another purchasing authority in the same region. METHODS: Patients were counselled and screened between 15 and 20 weeks gestation and Down's risk estimates calculated using the maternal serum marker results as modifiers of the age related risk. Outcome was determined in collaboration with the Regional Cytogenetics Unit. OUTCOME MEASURES: Detection rate for Down's syndrome, false positive rate, uptake of screening, and uptake of amniocentesis. RESULTS: In two years 22816 women were screened (approximately 84% of population); 32 Down's pregnancies were identified, 19 (59.4%) had a reported risk of > or = 1:250 and 20 (62.5%) a reported risk of > or = 1:300. Of those screened before 17 weeks, 16/20 (80%) had a reported risk of > or = 1: 300 compared with 4/12 (33%) of those screened later (P = 0.008); 4.64% of patients screened had reported risks > or = 1: 250 and 5.87% reported risks of > or = 1:300. Amniocentesis uptake was 70% in patients with reported risks of > or = 1:300. CONCLUSIONS: Overall the screening programme was effective but screening before 17 weeks was very much more effective than screening later.
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Allele-specific oligonucleotides are used widely for the detection of single point mutations in genes. A modification of this assay based on competition has been developed for detection of the Z mutation of alpha 1-antitrypsin (alpha 1-AT). The normal alpha 1-AT allele is referred to as M, and the Z mutation arises from a single base substitution. Amplified DNA products corresponding to homozygous M, heterozygous MZ, and homozygous Z obtained by the polymerase chain reaction were incubated with a twofold molar excess of unlabeled oligonucleotide prior to hybridization with a radiolabeled oligonucleotide. Thus, initial incubation with unlabeled M-specific oligonucleotide was followed by hybridization with radiolabeled Z-specific oligonucleotide, and vice versa. This assay increased the specificity of single-point mutation detection three- to four-fold. Furthermore, specific hybridization was obtained at a lower temperature as a consequence of improving the signal-to-noise ratio.
A recent case report suggested that hydroxychloroquine had a steroid sparing effect in a patient with severe chronic asthma. We have studied the effect of hydroxychloroquine in a group of nine steroid dependent adult asthmatic patients using a randomised double blind crossover comparison of hydroxychloroquine and placebo. Each patient received hydroxychloroquine (400 mg/day) or placebo for 2 month periods. The effect of hydroxychloroquine or placebo on asthma control was assessed by change in steroid dosage, visual analogue symptom scores, response to beta 2 agonist and peak expiratory flow rate (PFR) measurement. The dose of prednisolone required during hydroxychloroquine treatment did not differ from that during placebo treatment or in pre-trial period. There was no significant change in symptom scores of PFR measurement. In this study an 8 week treatment with hydroxychloroquine was of no benefit to patients with chronic steroid dependent asthma.
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