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Objectives: During cardiac magnetic resonance imaging (cMRI) exams in patients with congenital heart disease (CHD), incidental liver abnormalities are increasingly found. However, no systematic data exist on the incidence of liver lesions in patients with different CHDs. In order to gain a first overview, we retrospectively analyzed cMRI examinations from the last 10 years at our institution. Methods: CMRI examinations including T2-weighted images covering parts of the liver were performed on 899 patients with CHD at our institution between 2014 and 2024. The cMRI examinations were analyzed by a medical student, a pediatrician, a radiologist, and a pediatric cardiologist. Liver lesions were defined as atypical liver parenchyma, showing T2 hyper- or hypointensity compared to the surrounding liver tissue. Results: Liver lesions were found in 9.5% (85/899) of all cMRI studies; of these, 89% ((76/85) of cases) were unknown at time of cMRI, 96% (82/85) were T2 hyperintense, and 38% (32/85) were larger than 1 cm. The patients with liver lesions were older (29 years vs. 22 years, p < 0.0001). There were no sex differences in the incidence of liver lesions or differences in right or left ventricular function (LVEF: 57% vs. 58%, p = 0.78; RVEF: 55% vs. 54%, p = 0.35). The patients with univentricular hearts, transposition of great arteries after atrial switch operation, and atrial septal defects showed the highest incidence (18%, 17%, and 21%, respectively). However, 9% of patients with left heart-sided valve disease also showed liver lesions. Conclusions: Incidental findings of liver lesions in cMRI examinations of patients with CHD are reasonably high with almost 10%. In the growing population of adults with CHD, liver monitoring might be helpful to assure overall patient health.

The concurrent delivery of multiple infusion solutions (Y-site administration) through asingle catheter lumen in intensive care patients is often unavoidable. This may lead to physicochemical incompatibilities, significantly affecting the efficacy and safety of drug therapy. The objective of this study is to develop and formulate an infusion regimen that considers the number of access points and avoids incompatibilities for adult intensive care patients. Acomprehensive literature search was conducted following the ADKA-DIVI standard concentration list for continuous infusions. Manufacturer information and databases, such as STABILIS, Kingguide, and Trissel's TM2IV Compatibility, were used to evaluate compatibility. For frequently used combinations for which no compatibility data were available, stability data on physical compatibility were compiled. Based on this, considering 34common active ingredients and their standard concentrations, a4-lumen central venous catheter (CVC) infusion regimen was developed to help avoid incompatibilities in the adult intensive care unit.

Background and ObjectivesFailure of continuous positive airway pressure (CPAP) in preterm infants may result from respiratory exhaustion, potentially also evoked by the CPAP device’s imposed work of breathing (iWOB). This study investigated in-vitro the iWOB of 16 CPAP-devices in four simulated neonatal scenarios with focus on the impact of different mechanisms of CPAP-generation.MethodsA neonatal lung model and 3D-printed nasopharyngeal dummies (representing a 1000 g preterm and a 3000 g term infant, settings: preterm/term: Vtid 4.5/14 ml, rate 80/60 bpm) were used to evaluate common CPAP-devices under various conditions (two levels of positive end-expiratory pressure: 5, 10 cmH2O).ResultsDuring 9300 simulated breaths, iWOB differed widely across investigated devices. The lowest inspiratory iWOB were observed in Bubble CPAP, variable-flow devices and constant-flow devices with turbine (0.04/0.15–0.17 mJ/breath for preterm/term model resp. 0.07/0.24–0.33 mJ/breath). Devices with mechanical regulation and with constant resistance require higher inspiratory effort and are therefore not relevant in the low iWOB group. The highest iWOB (0.41/2.92 mJ/breath at 5 cmH2O) was found in a T-piece device. The mechanism of CPAP generation influenced iWOB levels.ConclusionsThe magnitude of iWOB varied considerably between devices. This should be considered, to optimize non-invasive respiratory support in neonates.ImpactThis bench study detected differences in the imposed work of breathing (iWOB) between 16 different CPAP devices.In addition to existing literature, the present study contributes to a more comprehensive understanding of iWOB and the influence of CPAP generation due to the large number of CPAP devices investigated.If the identified differences are confirmed in clinical practice, this could streamline decision-making in CPAP device selection.

ZusammenfassungDas Leitbild des ÖGD von 2018 betont die Bedeutung der Wissenschaftlichkeit unddie Zusammenarbeit mit wissenschaftlichen Einrichtungen. 2020 griff dasBundesministerium für Gesundheit (BMG) diesen Aspekt in einerFörderausschreibung zur Stärkung der Kooperation zwischen ÖGD undPublic-Health-Forschung auf. Im Rahmen dieser Ausschreibung entstand derForschungsverbund Infektionsschutz.Neu.Gestalten (I.N.Ge) mit vierGesundheitsämtern und einer Universität (Förderzeitraum: 09/2021–08/2024). Zielwar, die Arbeit des ÖGD in Gesundheits- und Infektionsschutz evidenzbasiert zuverbessern. Am Beispiel des Infektionsschutzes in der COVID-19-Pandemie wurdenDigitalisierung, Qualitätssicherung, Risikokommunikation und besonderePersonengruppen untersucht. Dabei kam ein partizipativer, transformativer Ansatzmit Reallaboren und -Experimenten zum Einsatz. Aus der intensiven Kooperationwurden „Lessons Learned für eine erfolgreiche Zusammenarbeit zwischen ÖGD unduniversitären Einrichtungen abgeleitet. Wichtige Faktoren sind passendeRahmenbedingungen, gezielte Ressourcenplanung und klare Rollendefinitionen.Themenfelder wurden identifiziert, welche künftige Kooperationen effektiver undnachhaltiger gestalten können. Die daraus entwickelten Handlungsempfehlungensollen u. a. die Konzeption gemeinsamer Forschungsprojekte unterstützen. I.N.Gezeigt, dass es für eine stärkere Zusammenarbeit verbesserter Rahmenbedingungenbedarf. Förderprojekte sollten flexible Kooperationsmodelle ermöglichen, diesich an spezifische Ressourcen und Kompetenzen der Partner anpassen. Einevorausschauende Ressourcenplanung ist essenziell – inklusiveStellenkalkulationen, Vertretungsregelungen und zusätzlicher Kapazitäten fürEinarbeitung oder methodische Anpassungen. Klare Rollendefinitionen undZuständigkeiten sollten bereits in der Ausschreibungsphase festgelegt werden, umTransparenz zu schaffen und die Umsetzung zu optimieren. I.N.Ge verdeutlicht,dass die Zusammenarbeit zwischen ÖGD und akademischen Einrichtungen gefördertwerden muss, um den ÖGD weiterzuentwickeln und zu stärken.

Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients. The use of nitisinone (NTBC) has revolutionised treatment and outcome of this disorder. NTBC has to be combined with a low protein diet. While NTBC modulates the disease course in HT1 patients, several issues are open. Optimal dosage, doses per day, therapeutic range of NTBC concentration, mode of protein restriction and biomarkers are not well defined. HCC and neurocognitive deficits are long-term sequelae. Early diagnosis and treatment are essential to minimise the risk for these complications. Clinical guidance for management of HT1-patients is required. Randomised clinical studies are difficult in the presence of therapeutic options. We discussed these issues in a consensus group of 10 paediatricians, 1 adult hepatologist, 1 geneticist, 2 dieticians, 2 newborn screening specialists with experience in HT1, 1 psychologist and 2 representatives of a patient group from the German-speaking countries (DACH). Recommendations were based on scientific literature and expert opinion, also taking into account recent experience with newborn screening. There was strong consensus that newborn screening using succinylacetone (SA) and early treatment are essential for a good outcome. The dose of NTBC should be as low as possible without losing metabolic control. This has to be accompanied by a low protein diet, in some patients a simplified diet without calculation of protein intake. Specific education and psychosocial support are recommended. Indications for liver transplantation were defined. Monitoring shall include clinical findings, levels of SA, tyrosine, phenylalanine and NTBC in (dried) blood.

Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long-term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly investigated. The aim of this longitudinal questionnaire-based study on 369 families living with a child with an IMD was to investigate the psychosocial and financial burden following a true-positive NBS. The reported psychosocial burden differed between children and their parents, and was associated with the child's age, diagnosis, and treatment. At younger ages, parent-reported burden was higher for the parents than for the individual child, while it increased for children and decreased for parents as the child grew older. Furthermore, psychosocial burden increased if the child required a strict dietary treatment and was at risk of metabolic decompensation. Regardless of diagnosis and treatment, the developmental delay of their child independently increased the parental psychosocial burden. Financial burden was reported by 24% of all families, and was higher in low-income families and in families whose children required dietary treatment. In conclusion, a substantial psychosocial and financial burden was revealed for children and their families after true-positive NBS. Since this burden is likely to have a negative impact on the long-term individual health benefits of NBS, this study underlines the importance of regularly assessing the psychosocial and financial needs of these families.

Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients. We performed a prospective, national, multicenter, observational study. In the studied NBS cohort (N = 33; 22 classic MSUD [cMSUD], 11 variant MSUD [vMSUD]; median age at last visit 10.4 years), 32 (97%) patients survived, 58% of them had normal cognitive functions (median IQ 87). Initial peak leucine increased linearly with age in cMSUD (median: 1712 µmol/L), but not in vMSUD. Global IQ correlated inversely with the initial peak leucine concentration (P = .04; β = -0.0081) and the frequency of decompensations (P = .02; β = -9.133). A cluster analysis identified 2 subgroups differing in their long-term metabolic control (median leucine concentration: 162 vs 278 µmol/L; P < .001). In cMSUD, lower leucine concentrations were associated with a higher IQ (95.5 vs 80; P = .008). Liver transplantation (median age 5.8 years) was not associated with better cognitive outcome. NBS is highly sensitive for cMSUD, but vMSUD might be missed (N = 2 missed by NBS). NBS and the early start of treatment improve survival and long-term outcome in individuals with cMSUD. Disease severity is an important modifier of outcome; however, the time to NBS report and the quality of long-term metabolic control had an independent impact on cognitive outcome, highlighting the importance of an early diagnosis and the quality of treatment.