Desmin mutations cause familial and sporadic cardiomyopathies. In addition to perturbing the contractile apparatus, both desmin deficiency and mutated desmin negatively impact mitochondria. Impaired myocardial metabolism secondary to mitochondrial defects could conceivably exacerbate cardiac contractile dysfunction. We performed metabolic myocardial phenotyping in left ventricular cardiac muscle tissue in desmin knock-out mice. Our analyses revealed decreased mitochondrial number, ultrastructural mitochondrial defects, and impaired mitochondria-related metabolic pathways including fatty acid transport, activation, and catabolism. Glucose transporter 1 and hexokinase-1 expression and hexokinase activity were increased. While mitochondrial creatine kinase expression was reduced, fetal creatine kinase expression was increased. Proteomic analysis revealed reduced expression of proteins involved in electron transport mainly of complexes I and II, oxidative phosphorylation, citrate cycle, beta-oxidation including auxiliary pathways, amino acid catabolism, and redox reactions and oxidative stress. Thus, desmin deficiency elicits a secondary cardiac mitochondriopathy with severely impaired oxidative phosphorylation and fatty and amino acid metabolism. Increased glucose utilization and fetal creatine kinase upregulation likely portray attempts to maintain myocardial energy supply. It may be prudent to avoid medications worsening mitochondrial function and other metabolic stressors. Therapeutic interventions for mitochondriopathies might also improve the metabolic condition in desmin deficient hearts.

Introduction: L-Arginine (Arg) is a semi-essential amino acid. Constitutive and inducible nitric oxide synthase (NOS) isoforms convert Arg to nitric oxide (NO), a potent vaso- and bronchodilator with multiple biological functions. Atopic dermatitis (AD) and bronchial asthma (BA) are atopic diseases affecting many children globally. Several studies analyzed NO in airways, yet the systemic synthesis of NO in AD and BA in children with BA, AD or both is elusive. Methods: In a multicenter study, blood and urine were obtained from 130 of 302 participating children for the measurement of metabolites of the Arg/NO pathway (BA 31.5%; AD 5.4%; AD + BA 36.1%; attention deficit hyperactivity disorder (ADHD) 12.3%). In plasma and urine amino acids Arg and homoarginine (hArg), both substrates of NOS, asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA), both inhibitors of NOS, dimethylamine (DMA), and nitrite and nitrate, were measured by gas chromatography–mass spectrometry. Malondialdehyde (MDA) was measured in plasma and urine samples to evaluate possible effects of oxidative stress. Results: There were no differences in the Arg/NO pathway between the groups of children with different atopic diseases. In comparison to children with ADHD, children with AD, BA or AD and BA had higher plasma nitrite (p < 0.001) and nitrate (p < 0.001) concentrations, suggesting higher systemic NO synthesis in AD and BA. Urinary excretion of DMA was also higher (p = 0.028) in AD and BA compared to patients with ADHD, suggesting elevated ADMA metabolization. Discussion/Conclusion: The Arg/NO pathway is activated in atopic diseases independent of severity. Systemic NO synthesis is increased in children with an atopic disease. Plasma and urinary MDA levels did not differ between the groups, suggesting no effect of oxidative stress on the Arg/NO pathway in atopic diseases.

Patients with phenylketonuria (PKU) present signs of impaired executive functioning and bone health in adolescence and adulthood, depending in part on the success of therapy in childhood. Therefore, nine children with well-treated PKU (4–7 years old, 22.2% ♀, seven with a full set of data, two included into partial analysis) and 18 age-, gender- and season-matched controls were analyzed for differences in executive functioning and bone parameters in plasma. Plasma was analyzed with commercially available kits. Cognitive performance in tonic alertness, visuo-spatial working memory, inhibitory control and task switching was assessed by a task battery presented on a touch screen. Regarding cognition, only the performance in incongruent conditions in inhibitory control was significantly better in children with PKU than in controls. No further differences in cognitive tests were detected. Furthermore, no significant difference in the bone turnover markers osteocalcin, undercarboxylated osteocalcin and CTX were detected between children with PKU and controls, while children with PKU had a significantly higher vitamin D concentration (69.44 ± 12.83 nmol/L vs. 41.87 ± 15.99 nmol/L, p < 0.001) and trended towards lower parathyroid hormone concentrations than controls (48.27 ± 15.16 pg/mL vs. 70.61 ± 30.53 pg/mL, p = 0.066). In this small group of well-treated preschoolers with PKU, no impairments in cognitive performance and bone turnover were observed, while vitamin D supplementation of amino acid supplements seems to be sufficient to achieve good vitamin D status.

New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many cases, there is a strong suspicion that the cause must lie in unexplored gene areas, such as deep-intronic or other non-coding regions. In order to find these changes, next-generation sequencing (NGS) methods are constantly evolving, making it possible to sequence entire genomes to reveal these previously uninvestigated regions. Here, we present a young woman who was strongly suspected of having a so far genetically unsolved sarcoglycanopathy based on her clinical history and muscle biopsy. Using short read whole genome sequencing (WGS), a homozygous inversion on chromosome 13 involving SGCG and LINC00621 was detected. The breakpoint in intron 2 of SGCG led to the absence of γ-sarcoglycan, resulting in the manifestation of autosomal recessive limb-girdle muscular dystrophy 5 (LGMDR5) in the young woman.

Background: Effective promotion and support of breastfeeding requires reliable data on breastfeeding duration, particularly of exclusive breastfeeding (EBF). Maternal retrospective recall of breastfeeding duration is often used to assess breastfeeding rates and trends in a certain population, but recall accuracy is limited by potential recall bias or imprecision of memory. Objective of this study was to examine mothers’ ability to accurately recall their breastfeeding duration at 12 months postpartum after individual recall periods of 6, 8 or 10 months. Methods: This assessment has been embedded into the web-based nationwide prospective survey on breastfeeding and infant nutrition SuSe-II 2017–19 in Germany. A set of 2–3 simple recall questions on duration of EBF (as defined by World Health Organization) and any breastfeeding (ABF) has been compared to prospective maternal reports of breastfeeding at 2, 4 and 6 months as reference. Results: Data pairs of recalled duration and reference duration were provided by 572 mothers for EBF and 163 mothers for ABF. On average, duration of EBF and ABF differs statistically significantly between methods, but deviations are small (2–3 weeks), and tend to increase with longer recall period. For both, EBF and ABF, at a tolerance level of ±2 weeks, the recall overestimates breastfeeding duration in about 50% of recall-reference pairs, while underestimation is scarce (about 10%) and about 40% of data pairs are accurate. In scenarios with a deviation tolerance of 1, 2, or 4 weeks, around 20%, 40% or 70% of recalls would be classified as accurate. Conclusions: Asking about duration of EBF and ABF at 12 months postpartum with a simple set of questions in a large sample of mothers was found to be suitable for assessing ABF and EBF duration within the first 6 months. Specific scenarios of tolerance levels suggest a deviation between recall and reference breastfeeding duration of ±2 weeks as feasible compromise between high accuracy and high proportion of acceptable recalls. Trial registration: German Clinical Trials Register (DRKS) (ID: DRKS00014601).

Zusammenfassung: Einleitung: Von Armut betroffene Familien in Deutschland erhalten im Rahmen der Sozialgesetzgebung (SGB) existenzsichernde Leistungen. Das Bürgergeld umfasst auch Regelsätze für Kinder und Jugendliche, gestaffelt in 3 Altersgruppen. Der Bedarf für Ernährung ist die größte Kategorie des Regelsatzes. Die Optimierte Mischkost (OMK) ist ein praxisnahes Konzept einer gesunden Ernährung für Kinder und Jugendliche im Alter von 1–18 Jahren. Herkömmliche Lebensmittel und selbsthergestellte Speisen werden bevorzugt. Ziel des Projektes war es, die Lebensmittelkosten der OMK anhand des zugrunde liegenden 7‑Tage-Speiseplans zu berechnen. Methodik: Es wurden die niedrigsten Regalpreise der 87 Lebensmittel der OMK im Lebensmitteleinzelhandel (1 Supermarkt, 1 Discounter; November 2022, Bochum) erfasst. Der Ernährungsregelsatz wurde mit den Lebensmittelkosten pro Monat nach den SGB-Altersgruppen sowie nach den Altersgruppen der Deutschen Gesellschaft für Ernährung (DGE) verglichen. Weiterhin wurden die Beiträge der Lebensmittelgruppen zu den Gesamtkosten und der Gesamtenergiezufuhr der OMK aufgeschlüsselt. Ergebnisse: Die Kosten der OMK wurden mit dem Ernährungsregelsatz des Bürgergeldes für die 3 SGB-Altersgruppen zu 101–109 % gedeckt, für die enger gefassten DGE-Altersgruppen war der Betrag mit wenigen Ausnahmen ebenfalls ausreichend. Hauptsächliche Kostenträger der OMK waren Gemüse/Rohkost, hauptsächliche Energielieferanten waren Brot/Getreideprodukte. Diskussion: Mit dem Bürgergeld kann der ernährungsphysiologische Bedarf von Kindern und Jugendlichen gedeckt werden, unter der Voraussetzung der Selbstherstellung der Speisen und der Verwendung preiswerter Lebensmittel. Es bleibt zu diskutieren, inwieweit auch mit der Ernährung verbundene Bedürfnisse der sozialen Teilhabe erfüllt werden können.