Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in SAMHD1 as the cause of AGS at the AGS5 locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.

Aim: Continuous pain occurs routinely, even after invasive procedures, or inflammation and surgery, but clinical practices associated with assessments of continuous pain remain unknown.Methods: A prospective cohort study in 243 neonatal intensive care units (NICUs) from 18 European countries recorded the frequency of pain assessments, use of mechanical ventilation, sedation, analgesia or neuromuscular blockade for each neonate for up to 28 days after NICU admission.

Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD.

Aim: To assess whether axillary temperature measurements reliably reflect oral/rectal temperature measurements. Methods: This observational study compared paired axillary‐rectal and axillary‐oral temperatures in a general paediatric ward with the participation of 225 children aged ≤4 y and 112 children aged between 4 and 14 y. Results: Changes in oral/rectal and axillary temperatures correlated significantly (p < 0.0001). However, axillary temperature measurements were significantly lower than both oral (mean ‐0.56°C, SD 0.76°C) and rectal measurements (0.38°C; SD 0.76°C). Ninety‐five percent of axillary measurements fell within a 2.5–3°C range around respective paired oral/rectal measurements. The mean difference increased with increasing temperature, and was 0.4°C at low body temperatures, and over 1°C with a fever of 39°C. Neither seasonal fluctuations nor the amount of clothing worn influenced this difference. Conclusion: Axillary temperatures in young children do not reliably reflect oral/rectal temperatures and should therefore be interpreted with caution.

A questionnaire study was carried out in a group of survivors of childhood cancer to assess their quality of life. The questionnaire was sent to 30 survivors who had completed treatment with megatherapy followed by autologous bone marrow rescue at St Bartholomew's Hospital, London. Of the 28 respondents (93%), in 27 (96%) the quality of life was judged to be good, with 11 of these 27 (40%) having no disability whatsoever and a further 9 (33%) reporting only minimal disability. The other 7 patients had moderate to severe disabilities, with pain and depression remaining ongoing problems, and some adolescents felt that they were unable to cope with everyday life alongside their peers. Nine parents and 14 of the children themselves expressed anxiety about the previous illness. The study shows that, by using a postal method, a satisfactory assessment of quality of life in survivors of childhood cancer can be made.

Contributing factors for the high rates of OL and UL prescribing include failure by prescribers to follow recommendations detailed in the product literature and a lack of licensed paediatric medicines.

Radiotherapy is known to have acute and long term deleterious effects on lung tissue. However, pulmonary irradiation is an established treatment in advanced childhood tumours with pulmonary metastases not responsive to chemotherapy. In this study eight patients with Wilms' tumours and lung metastases treated with whole lung irradiation (1200-1837 cGy) and chemotherapy were reassessed clinically, radiologically and with lung function tests 6-26 years after radiotherapy. One patient was breathless after mild exertion, four after strenuous exercise and three were asymptomatic. Clinically all had small chests and four of five females had underdeveloped breasts. A chest radiograph showed clear lung fields in all cases. Lung volumes, especially total lung capacity (TLC) and vital capacity (VC), were decreased when compared with predicted values for age and height. However, gas transfer per unit lung volume (KCO) was normal. This study suggests that pulmonary irradiation in childhood results primarily in underdevelopment of the thorax and that diffuse interstitial lung fibrosis is not a significant feature at this dose level.

Although hypertension is a complication of acute lymphoblastic leukemia (ALL), its true incidence in this disease is unknown. In this study the blood pressure profiles in all children newly diagnosed with ALL were reviewed over an 18-month period. Fourteen (46%) from a total of 30 patients were found to be hypertensive at presentation (n = 8) or during induction chemotherapy (n = 6). A patient with significant hypertension developed generalized convulsions; the rest were asymptomatic. Six patients were managed with antihypertensive drugs. Four patients with hypertension had renal enlargement on the initial ultrasound scan, which returned to normal when hematologic remission was achieved. One patient without hypertension had bilateral renal enlargement, but this persisted despite achieving remission. All patients with hypertension were normotensive at follow-up 2 to 18 months after induction chemotherapy. The presence of hypertension before therapy and its association with renal enlargement suggest that the leukemic process is an important etiologic factor. In all cases therapy aggravated or unmasked the elevation in blood pressure. Considering the high incidence of susceptible patients, increased awareness and prompt management may avoid possible life-threatening complications.