The aim of this study was to establish reference values and factors associated with serum AFP elevation in infants. Five hundred twenty-four samples collected from infants up to the age of 2 years at the University Hospital Düsseldorf (Germany) were analyzed. At birth mean serum AFP levels were 41,687 ng/ml in 256 term babies and 158,125 ng/ml in 90 premature babies born before the 37th gestational week, excluding samples from children with factors known to be associated with AFP elevation. In the first 4 weeks of life, AFP levels decreased by 50% in 5.1 days in term babies. Between day 180 and 720 of life, AFP levels up to 87 ng/ml were within the 95.5% interval (assumed logarithmic normal distribution) with a mean of 8 ng/ml without a further decline. By the age of 2 years the infants of this study had not reached adult serum AFP levels (0-6 ng/ml).

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability. Twenty-four disease experts were surveyed on CLN2 disease management and a subset met to discuss current practice. Management goals and strategies are consistent among experts globally and are guided by the principles of pediatric palliative care. Goals and interventions evolve as the disease progresses, with a shift in focus from maintenance of function early in the disease to maintenance of quality of life. A multidisciplinary approach is critical for optimal patient care. This work represents an initial step toward the development of consensus-based management guidelines for CLN2 disease.

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IntroductionElectrical velocimetry (EV) is a type of impedance cardiography, and is a non-invasive and continuously applicable method of cardiac output monitoring. Transthoracic echocardiography (TTE) is non-invasive but discontinuous.MethodsWe compared EV with TTE in pediatric intensive care patients in a prospective single-center observational study. Simultaneous, coupled, left ventricular stroke volume measurements were performed by EV using an Aesculon® monitor and TTE (either via trans-aortic valve flow velocity time integral [EVVTI], or via M-mode [EVMM]). H0: bias was less than 10% and the mean percentage error (MPE) was less than 30% in Bland–Altman analysis between EV and TTE. If appropriate, data were logarithmically transformed prior to Bland–Altman analysis.ResultsA total of 72 patients (age: 2 days to 17 years; weight: 0.8 to 86 kg) were analyzed. Patients were divided into subgroups: organ transplantation (OTX, n =28), sepsis or organ failure (SEPSIS, n =16), neurological patients (NEURO, n =9), and preterm infants (PREM, n =26); Bias/MPE for EVVTI was 7.81%/26.16%. In the EVVTI subgroup analysis for OTX, NEURO, and SEPSIS, bias and MPE were within the limits of H0, whereas the PREM subgroup had a bias/MPE of 39.00%/46.27%. Bias/MPE for EVMM was 8.07%/37.26% where the OTX and NEURO subgroups were within the range of H0, but the PREM and SEPSIS subgroups were outside the range. Mechanical ventilation, non-invasive continuous positive airway pressure ventilation, body weight, and secondary abdominal closure were factors that significantly affected comparison of the methods.ConclusionsThis study shows that EV is comparable with aortic flow-based TTE for pediatric patients.