Effective radiation dose of skeletal surveys performed for suspected physical abuse.

BACKGROUND: A skeletal survey is an important diagnostic tool for patients presenting with suspected physical abuse. A relatively recent change in guidelines for skeletal surveys by the Royal College of Radiologists (RCR) in 2017 has led to more initial and follow-up images for these patients, which would be expected to have led to an increase in effective radiation dose. OBJECTIVE: To estimate the effective dose following the change in guidelines and to ascertain the difference between doses before and after the change in guidelines. MATERIALS AND METHODS: Data were collected retrospectively on children younger than 3 years old referred for skeletal surveys for suspected physical abuse at a tertiary paediatric centre. A Monte Carlo radiation patient dose simulation software, PCXMC v 2.0.1, was used to estimate the effective dose, expressed in millisieverts (mSv). RESULTS: Sixty-eight children underwent skeletal surveys for suspected physical abuse. The total estimated effective dose for skeletal surveys with the previous RCR guidelines was found to be 0.19 mSv. For initial skeletal surveys with the current RCR guidelines, the estimated effective radiation dose was 0.19 mSv. Eighteen children had both initial and follow-up skeletal surveys as indicated by the current RCR guidelines, with an estimated effective total radiation dose of 0.26 mSv. CONCLUSION: Skeletal surveys deliver a relatively low estimated effective radiation dose equivalent to 1 month of United Kingdom background radiation, with no significant change in dose following the change in guidelines. Therefore, the benefits of having a skeletal survey outweigh the main radiation risk. However, accurate data regarding the radiation dose are important for clinicians consenting parents/guardians for imaging in suspected physical abuse.

IgG4-related hypophysitis in adolescence.

OBJECTIVES: IgG4-related hypophysitis is a novel clinical disease entity, which is typically seen in the sixth decade of life and is typically complicated by hypopituitarism. We describe an adolescent female with IgG4-related hypophysitis with normal pituitary function and summarize the relevant literature. CASE PRESENTATION: A 11.8-year-old girl presented with headache and left VI cranial nerve palsy. MRI brain identified an enlarged pituitary gland. Endocrine investigations revealed normal pituitary function. She underwent a transsphenoidal biopsy of the pituitary gland, and histological examination confirmed the diagnosis of IgG4-related hypophysitis. Serum IgG4 concentrations were normal and no evidence of other organ involvement was found. Although the patient tested strongly positive for TB on an interferon gamma release assay, pituitary biopsy was negative for granuloma formation and acid-fast bacilli (Ziehl-Neelson staining). IgG4-related hypophysitis was treated with oral prednisolone and mycophenolate-mofetil with a good response. CONCLUSIONS: We describe to the best of our knowledge, the youngest patient in the published literature with IgG4-related hypophysitis presenting without pituitary insufficiency. A literature review identified only five cases of IgG4-related hypophysitis in adolescence. Serum IgG4 concentrations were normal in all, except one of the adolescent patients reported so far, and appear unhelpful in diagnosis in this age group.

Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years.

CONTEXT: Mitochondrial dysfunction is increasingly implicated in pathogenesis of adult metabolic disease. Rare mitochondrial (mt) DNA mutations impair glucose homeostasis, but the contribution of common variants is unclear. In small studies, variation within the OriB origin of replication (at mt16189 in particular) has been associated with both early growth and adult metabolic phenotypes and may contribute to life-course relationships between the two. OBJECTIVE: The aim was to study a large well-characterized cohort to determine whether previously reported small-scale associations between OriB sequence variation and early growth and adult metabolic phenotypes are robust. DESIGN/SETTING/PARTICIPANTS: This was a genetic association study of 5470 individuals from the population-based Northern Finland Birth Cohort of 1966, followed prospectively from pregnancy to age 31 yr. MAIN OUTCOME MEASURES: We measured indices of early growth (including birth weight, placental weight, and ponderal index) and adult metabolic homeostasis (including body mass index, fasting glucose and insulin, indices of insulin action and secretion) and their relationship to variation in the OriB region. RESULTS: Previously reported associations could not be confirmed. There were no significant (P < 0.01, uncorrected) associations between OriB sequence variation and measures of early growth including birth weight (P = 0.52, comparing individuals with mt16189T to those with a homopolymeric C-tract) and placental weight (P = 0.49). There were no significant associations with adult metabolic phenotypes including fasting glucose (P = 0.07), fasting insulin (P = 0.42), and homeostatic model assessment-derived measures of insulin sensitivity or secretion (P = 0.45 and P = 0.56, respectively). CONCLUSION: Despite substantial power to detect previously reported effects, mtDNA variations around OriB are not major contributors to variation in early growth and metabolic phenotypes during early adulthood.