[Auto-injection with epinephrine in the finger of a 5-year-old child]. / Auto-injectie met epinefrine in de vinger bij een 5-jarig kind.

A 5-year-old boy with food allergies complicated by anaphylactic reactions with dyspnoea and angioedema had been prescribed an autoinjector with epinephrine (0.15 mg) so that his parents could treat him at home if necessary. The patient accidentally injected himself in a finger, which likely makes him the youngest patient to receive an epinephrine auto-injection reported to date. Treatment consisted of phentolamine (0.15 mg in 0.5 ml normal saline) injected subcutaneously at the site of accidental injection; the dose and volume were not adapted according to the age and body weight of the patient as only a local effect was intended. Finger circulation was restored within 20 minutes. Headache, nausea and vomiting were observed after 30 minutes and were most likely a systemic side effect of phentolamine. No other complications occurred. The patient recovered fully and was discharged the following morning. Intramuscular epinephrine autoinjection is standard therapy for severe anaphylactic reactions. The epinephrine autoinjector was introduced in 1980. As allergy and anaphylaxis become more common, increasing numbers of autoinjectors are prescribed, and it is likely that the number of accidental digital autoinjections will also increase. These digits are then at risk of ischaemic necrosis. There is no consensus on therapeutic strategies in such cases. Phentolamine administration appears to be an effective intervention. However, several recent studies have shown that epinephrine may be used safely in hand surgery, which suggests that accidental digital epinephrine autoinjection may not always require immediate treatment.

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood.

We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in differential diagnosis of this rare clinical entity.

[A twelve-year old girl with diabetes mellitus type 2]. / En 12-jarig meisje met diabetes mellitus type 2.

A 12-year-old very obese girl was referred for hyperglycaemia. She had no complaints apart from a recent vaginal candidiasis. Non-insulin-dependent diabetes mellitus (type 2 diabetes) was diagnosed. She was started on a hypocaloric diet and on an oral hypoglycaemic agent (metformin 500 mg/day). This case illustrates the importance of awareness of the existence of type 2 diabetes in childhood and adolescence.

DNA repair of UV photoproducts and mutagenesis in human mitochondrial DNA.

The induction and repair of DNA photolesions and mutations in the mitochondrial (mt) DNA of human cells in culture were analysed after cell exposure to UV-C light. The level of induction of cyclobutane pyrimidine dimers (CPD) in mitochondrial and nuclear DNA was comparable, while a higher frequency of pyrimidine (6-4) pyrimidone photoproducts (6-4 PP) was detected in mitochondrial than in nuclear DNA. Besides the known defect in CPD removal, mitochondria were shown to be deficient also in the excision of 6-4 PP. The effects of repair-defective conditions for the two major UV photolesions on mutagenesis was assessed by analysing the frequency and spectrum of spontaneous and UV-induced mutations by restriction site mutation (RSM) method in a restriction endonuclease site, NciI (5'CCCGG3') located within the coding sequence of the mitochondrial gene for tRNALeu. The spontaneous mutation frequency and spectrum at the NciI site of mitochondrial DNA was very similar to the RSM background mutation frequency (approximately 10(-5)) and type (predominantly GC>AT transitions at G1 of the NciI site). Conversely, an approximately tenfold increase over background mutation frequency was recorded after cell exposure to 20 J/m2. In this case, the majority of mutations were C>T transitions preferentially located on the non-transcribed DNA strand at C1 and C2 of the NciI site. This mutation spectrum is expected by UV mutagenesis. This is the first evidence of induction of mutations in mitochondrial DNA by treatment of human cells with a carcinogen.

[Pneumothorax in premature neonates with hyaline membrane disease: risk factors and consequences]. / Pneumothorax bij preterme neonaten met hyaliene membranenziekte: risicofactoren en gevolgen.

OBJECTIVE: Analysis of risk factors and consequences of a pneumothorax in ventilated preterm neonates with hyaline membrane disease (HMD). PATIENTS AND METHODS: In 88 neonates with HMD (gestational age 29.7 +/- 2.5 weeks, birth weight 1370 +/- 510 gram) clinical parameters as grade of HMD, ventilator settings, the administration of sedative and/or paralysing drugs, and the occurrence of patent ductus arteriosus (PDA) had been studied retrospectively to assess possible risk factors for a pneumothorax. The effects of a pneumothorax on neuromotor development and the occurrence of bronchopulmonary dysplasia (BPD) were also studied. Newborns with signs of infection were excluded. RESULTS: A pneumothorax occurred in 25 of the 88 (28%) ventilated infants with HMD. The other 63 newborns formed the control group. The grade of HMD was similar for both groups. The ventilator settings (max. frequency, max. inspiratory pressure and max. inspiratory time) before the occurrence of a pneumothorax or up to the third day of life were not significantly different between the groups. Interstitial emphysema occurred more often in the pneumothorax group (32% re 2%, P < 0.01). Eleven of the 25 (44%) with a pneumothorax died compared to 8 of the 63 (13%) infants without a pneumothorax (p < 0.05). Neuro-development differed not significantly between both groups. BPD was seen more frequently after pneumothorax than in the control group 79% re 47% (p < 0.05, Chi2-test). CONCLUSIONS: A pneumothorax results in an increased mortality and incidence of BPD. Interstitial emphysema occurred more often in the pneumothorax group. None of the other variables studies could be assigned as a risk factor for a pneumothorax.