Ectopic ACTH/CRH co-secreting tumors are extremely rare in children and adolescents. The diagnosis of this condition is frequently missed and is sometimes confused with CD due to the effect of CRH on the pituitary.

We investigated a Q fever outbreak with human patients showing high fever, respiratory tract symptoms, headache and retrosternal pain in southern Hungary in the spring and summer of 2013. Seventy human cases were confirmed by analysing their serum and blood samples with micro-immunofluorescence test and real-time PCR. The source of infection was a merino sheep flock of 450 ewes, in which 44.6% (25/56) seropositivity was detected by enzyme-linked immunosorbent assay. Coxiella burnetii DNA was detected by real-time PCR in the milk of four of 20 individuals and in two thirds (41/65) of the manure samples. The multispacer sequence typing examination of C. burnetii DNA revealed sequence type 18 in one human sample and two manure samples from the sheep flock. The multilocus variable-number tandem repeat analysis pattern of the sheep and human strains were also almost identical,

Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype.

BackgroundThe use of e-cigarettes has increased during the past few years. Exposure to e-cigarette liquids, whether intentional or accidental, may lead to adverse events our aim was to assess factors associated with e-cigarette exposures across European Union Member States (EU MS).MethodsA retrospective analysis of exposures associated with e-cigarettes reported to national poison centers was performed covering incidents from 2012 to March 2015 from 10 EU MS. De-identified and anonymous raw data was acquired.ResultsIn total, 277 incidents were reported. Unintentional exposure was the most frequently cited type of exposure (71.3%), while e-cigarette refill vials were responsible for the majority of the reported incidents (87.3%). Two-thirds of all exposures (67.5%) occurred as ingestion of e-liquids, which was more frequent among children (≤ 5 years, 6–18 years) compared to adults (87.0% vs. 59.3% vs. 57.6%, p < 0.001 respectively), exposure via the respiratory (5.4% vs. 22.2% vs. 22.2%, p < 0.001) were more frequent among paediatric patients while ocular routes (2.2% vs. 3.7% vs. 11.4%, p = 0.021) were more frequent among adults. Logistic regression analyses indicated that paediatric incidents (≤ 5 years) were more likely to be through ingestion (adjusted Odds Ratio [aOR] = 4.36, 95% Confidence Interval [C.I.]: 1.87–10.18), but less likely to have a reported clinical effect (aOR = 0.41, 95% C.I.: 0.21–0.82).ConclusionsOur study highlighted parameters related to e-cigarette exposure incidents in 10 EU MS, the results of which indicate that consideration should be given to the design features which may mitigate risks, thereby protecting users, non-users and especially children.