Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the ACAN gene coding for the proteoglycan aggrecan, a main component of the cartilage matrix, were associated with idiopathic short stature. To ascertain the prevalence of ACAN mutations and broaden the phenotypic spectrum in patients with idiopathic short stature we performed sequence analyses in 428 families. We identified heterozygous nonsense mutations in four and potentially disease-causing missense variants in two families (1.4%). These patients presented with a mean of −3.2 SDS and some suggestive clinical characteristics. The results suggest heterozygous mutations in ACAN as a common cause of isolated as well as inherited idiopathic short stature.

The majority of patients with epilepsy maintain seizure control during pregnancy. The apparently higher risk of seizures among women treated with oxcarbazepine and the more frequent increases in drug load in the oxcarbazepine and lamotrigine cohorts prompts further studies on relationships with pharmacokinetic changes. Risks associated with status epilepticus appear to be lower than previously reported.

Background: Turner syndrome (TS) is an X-chromosomal disease affecting one in 2,500-3,000 female newborns. Girls and women with TS show multiple cardiovascular risk factors that all have an impact on arteriosclerosis and thus arterial stiffness. An accurate and non-invasive screening of arterial stiffness is essential to improve the overall outcome in these patients.Methods: Thirty-five TS patients and 19 healthy, age-matched controls were prospectively recruited for this study. Arterial stiffness was measured at the abdominal aorta in subxiphoid view using two-dimensional speckle tracking (2DST). Acquisition was performed at a frame rate of 60-90 fps. Mean peak circumferential strain (AAO-S, %) was measured offline for respective layers (inner layer = AAO-SENDO, %; middle layer = AAO-SMESO, %; outer layer = AAO-SEPI, %).Results: Compared with the control group, patients with TS showed significantly lower peak circumferential strain values in each layer [AAO-SENDO (mean ± SD): 10.98%±4.73% vs.

The rate of SARS-CoV-2 infections in children remains unclear due to many asymptomatic cases. We present a study of cross-sectional seroprevalence surveys of anti-SARS-CoV-2 IgG in 10,358 children recruited in paediatric hospitals across Germany from June 2020 to May 2021. Seropositivity increased from 2.0% (95% CI 1.6, 2.5) to 10.8% (95% CI 8.7, 12.9) in March 2021 with little change up to May 2021. Rates increased by migrant background (2.8%, 4.4% and 7.8% for no, one and two parents born outside Germany). Children under three were initially 3.6 (95% CI 2.3, 5.7) times more likely to be seropositive with levels equalising later. The ratio of seropositive cases per recalled infection decreased from 8.6 to 2.8. Since seropositivity exceeds the rate of recalled infections considerably, serologic testing may provide a more valid estimate of infections, which is required to assess both the spread and the risk for severe outcomes of SARS-CoV-2 infections.

Background: Turner syndrome (TS), a relatively rare chromosomal disease, is associated with multiple cardiovascular risk factors that possibly lead to increased left ventricular afterload and functional impairment.The aim of this study was to investigate whether alterations in myocardial work and work efficiency can be found in TS patients through left ventricular pressure-strain loop analysis (PSL).Methods: Thirty-eight patients with TS and 19 healthy, age-matched controls were recruited for this study. Global peak systolic strain (GLPS) and PSL of the left ventricle was assessed in study participants. TS patients whose history included coarctation of the aorta or prior cardiac surgery were excluded from GLPS and PSL analyses (n=5).Results: Median age was 16.00 years in the TS group and 16.35 years in the control group (P=0.236).GLPS did not show significant differences between both groups (P=0.524). TS patients demonstrated, compared to controls, a significantly higher global myocardial work index (BSA) (mean ± SD: 1,497±505 vs. 1,214±245 mmHg*%/m 2 ; P=0.027). Heart rate was significantly increased in TS patients, compared to controls (mean ± SD: 90.08±14.79 vs. 73.95±15.05 bpm; P<0.001), and correlated significantly with global myocardial work index [body surface area (BSA)] within the TS cohort (r=0.558, P=0.001).Conclusions: TS patients showed signs of increased myocardial workload that were only detectable through the novel PSL analysis method and not through GLPS. Moreover, elevated resting heart rate was linked with increased myocardial workload in TS patients. Further studies will have to investigate whether TS patients may develop advanced left ventricular systolic dysfunction later in life.