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Rare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women. Since therapeutic options for Fabry disease exist, early diagnosis is important. An artificial intelligence (AI)-based diagnosis support algorithm for rare diseases has been developed in preliminary studies. Our aim was to extend and train the questionnaire-based AI, capable of distinguishing patients with from those without rare diseases, to achieve satisfactory sensitivity for the detection of a single rare disease, Fabry disease, taking into account gender differences in disease perception. We collected 33 complete datasets from patients with confirmed Fabry disease. These records contained answered AI questionnaires, general information on disease progression, demographic information and quality of life (QoL) measures. The AI was trained to distinguish patients with Fabry disease from patients with relevant differential diagnoses. Its performance was assayed using stratified eleven-fold cross-validation and ROC curve calculation. Variables influencing the performance of the AI were examined with linear regression and calculation of the coefficient of determination. We were able to show that a relatively small sample is sufficient to achieve a sensitivity of 88.12% for the presence of Fabry disease, taking into account gender-specific differences in the disease perception during the pre-diagnostic phase. No confounders of the tool's performance could be found in the data collected concerning the patients' quality of life and diagnostic history. This study illustrates on the example of Fabry disease that differences between female and male Fabry patients, not only in the expression of symptoms, but also with regard to disease perception, might be relevant influencing variables for improving the performance of AI-based diagnostic support tools for rare diseases.

Background Global climate change causes rising of the average temperature as well as an increased number of days with extreme heat, even in the temperate climate of Germany. Children are a particularly vulnerable group according to heat stress and consequentially water loss. Even small changes in the water balance can lead to functional impairments. Therefore, quantification of exact water loss as well as the knowledge of hydration status changes in children under heat stress are important and can contribute to renewing water intake recommendations in accordance with climate change. This may promote approaching public health issues. Methods In this study water loss, hydration status data and voluntary water intake of children are collected. Therefore, 3–6 years old children from a German kindergarten are recruited. Weight, urine osmolality and saliva osmolarity are measured twice a day on two different testing days with different temperatures (day 1: hot summer day with heat peak; day 2: fall-like day with neutral temperatures). In-between the tests on each day, the children are exposed to these climate scenarios by playing outside for 2 h just like the usual daily routine. The drinking amount as well as the activity during the observational time is recorded. Additionally, the collected data is compared to previously published data on computed estimation of body core temperature changes and water loss in heat on a theoretically modelled 3-year-old child. Discussion The weight difference before and after exposure (in dependence of the water intake), provides information about the water loss (thermoregulation) in the observation period. The comparison of newly collected data with modelled water loss can elaborate variations in climate and physiological responses and provide information about, whether the model calculation can be transferred to German conditions. Furthermore, hydration status changes, as reflected by the urine osmolality, are expected to be different between the two test days depending on the extent to which the higher water loss through sweating is compensated by different water intake through voluntary drinking. By means of the collected data, drinking recommendations for children may be aligned and specified in accordance to different climate scenarios. Trial registration number German Clinical Trials Register (Deutsches Register Klinischer Studien), DRKS00033942,19th August 2024.

The majority of congenital cytomegalovirus (cCMV) infections are asymptomatic at birth and therefore not diagnosed. Approximately 10-15% of these infants develop late-onset hearing loss and other developmental disorders. Implementation of a universal screening approach at birth may allow early initiation of symptomatic interventions due to a closer follow-up of infants at risk and offers the opportunity to consider treatment of late-onset disease. Real-time PCR assays for the detection of CMV DNA in buccal swab samples demonstrated feasibility and good clinical sensitivity in comparison to a rapid culture screening assay. Because most cCMV infections remain asymptomatic, a universal screening assay that stratifies CMV infected infants according to low and high risk of late-onset cCMV disease could limit the parental anxiety and reduce follow-up costs. We therefore developed and characterized a screening algorithm based on a highly-sensitive quantitative real-time PCR assay that is compatible with centralized testing of samples from universal screening and allows to determine CMV DNA load of saliva samples either as International Units (IU)/ml saliva or IU/105 cell equivalents. 18 of 34 saliva samples of newborns that tested positively by the screening algorithm were confirmed by detection of CMV DNA in blood and/or urine samples obtained during the first weeks of life. All screening samples that could not be confirmed had viral loads of <2.3x105 IU/ml saliva (median: 6.8x103) or 1.3x105 IU/105 cell equivalents (median: 4.0x102). The viral load of screening samples with confirmed cCMV infection ranged from 7.5x102 to 8.2x109 IU/ml saliva (median: 9.3x107) or 1.5x102 to 5.6x1010 IU/105 cell equivalents (median: 3.5x106). Clinical follow-up of these newborns with confirmed cCMV infection should reveal whether the risk of late-onset cCMV disease correlates with CMV DNA load in early life saliva samples and whether a cut-off can be defined identifying cCMV infected infants with or without risk for late-onset cCMV disease.

During the omicron wave of the COVID-19 pandemic and with SARS-CoV-2 vaccines becoming available, seroprevalence rates rose in children and adolescents. This study investigated the impact of both SARS-CoV-2 infections and vaccinations on the incidence of acute and prolonged symptoms in real-world conditions during the transition from the pandemic to the endemic phase. Participants from a pediatric population based seroprevalence study (CorKID study) were followed up at least two and for almost four years by survey of health status features and symptoms suggestive of post-COVID syndrome (PCS). In a subgroup (n = 259) SARS-CoV-2 antibody serology was further investigated. 789 participants of the original CorKID study cohort (n = 2.121; 37.2%) were included. 67.9% reported at least one SARS-CoV2 infection. 46.6% had received one or more SARS-CoV-2 vaccinations. In the vast majority of serologically tested participants antibodies again SARS-CoV-2 spike (98.9%) or nucleocapsid (93.3%) antigen were detected following infection and/or vaccination. At least 30% experienced one unrecognized SARS-CoV-2 infection. The overall health status was comparable between children, irrespective of SARS-CoV-2 infections and similar to pre-pandemic assessment. However, a subset of young adolescents exhibited a decline in physical performance compared to pre-pandemic conditions. After infection, PCS-like symptoms persisted in 7% of the respondents for more than three months and up to four years. SARS-CoV-2 vaccinated participants (47%) reported 12% less acute flu-like infections other than SARS-CoV-2. Nearly all participants developed SARS-CoV-2 antibodies in this longitudinal study through either vaccination or infection during the Omicron wave. About 7% of participants suffered from PCS symptoms, predominately fatigue and exhaustion. Furthermore, participants who received vaccinations against SARS-CoV-2 reported a lower frequency of acute infections during follow-up.

Early infant feeding and swallowing are complex motor processes involving numerous muscles in coordination, e.g. the orofacial muscles as well as the muscles of the pharynx, larynx and esophagus. The newborn’s reflexive drinking develops into the ability to ingest pureed complementary food as infancy progresses. Finally, in the last part of the first year of life, a differentiated eating, chewing and swallowing process develops allowing the voluntary intake of different foods of the family diet. The dietary schedule for the first year of life, which describes the recommended nutrition of infants in Germany, corresponds to these milestones in eating development. Disturbances in gross motor development, sensory processing issues, and organic and behavioral problems are known to interfere with the development of eating skills. Swallowing disorders (dysphagia) in children can have a detrimental effect on food intake and pose a serious risk to growth and development. Their prevention treatment requires a multidisciplinary approach with the aim of enabling the child to eat independently in the long term.

High-resolution optical coherence tomography (OCT) allows the detection of macular pathology and involvement of the optic nerve in a wide spectrum of diseases. For the differentiation of diseased and healthy status, normal values of retinal layer segmentation are critical. Yet, normative values mostly cover adult populations with only sparse data for paediatric cohorts. We present data of retinal layer characteristics via OCT in a healthy paediatric cohort. This prospective cross-sectional study screened 75 healthy children (male = 42, female = 33, range 4-17 years) without visual problems. OCT was performed with a peripapillary ring and macula scan protocol to determine paediatric normative values for routine parameters (peripapillary retinal nerve fibre layer thickness (pRNFL), total macular volume (TMV), macular retinal thickness (RT)). The macula scan (6mm grid) was segmented using the device-inherent automated segmentation software (Heidelberg Eye Explorer) for retinal layers: RNFL, ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL) in 9 segments each and mean of the 9 segments. We obtained OCT data of 72 children with mean age 12.49 years (standard deviation, SD, 2.18; minimum 3.93). Mean global pRNFL was 102.20 [mu]m (SD 8.24), mean TMV 8.81 mm.sup.3 (0.30) and mean RT (all segments) 318.22 [mu]m (10.19). Segmented macular retinal layer thicknesses (mean of all segments) were: RNFL 27.67 [mu]m (2.14), GCL 41.94 [mu]m (2.50), IPL 34.97 [mu]m (2.10), INL 35.18 [mu]m (2.15), OPL 29.06 [mu]m (2.24), ONL 68.35 [mu]m (6.20). The OCT is a useful non-invasive imaging technique for the examination of the retina in children with short duration, high imaging resolution and no known adverse effects. Normative values may serve as a comparator for different neuropaediatric disorders and are first presented with this study using an up-to-date and standardized OCT imaging technique.

Background The COVID-19 pandemic contact restrictions considerably changed maternal visiting contacts during the time in which breastfeeding is initiated. We wanted to know how maternity ward staff and mothers rated the conditions of starting breastfeeding under contact restrictions. Methods In the Breastfeeding in North Rhine-Westphalia (SINA) study, Germany, 2021/22, chief physicians as well as ward staff from 41 (out of 131) maternity hospitals (82 members of the healthcare sector in total) were surveyed by telephone concerning structural and practical conditions for breastfeeding support before and during the pandemic; 192 (out of 426 eligible) mothers answered an online-questionnaire about their breastfeeding experiences at 2 weeks and 2 months after birth. Results In almost all of the hospitals, visits were restricted due to the pandemic, with the exception of the primary support person. After more than one year of pandemic experience, the ward staff were convinced that the restrictions were mostly positive for the mothers (97.6%) and for the ward staff themselves (78.0%). A total of 80.5% of the ward staff would maintain the restrictions beyond the pandemic. The mothers themselves mostly rated the restrictions in the hospital as being just right; moreover, many mothers voluntarily maintained the restrictions at home, at least in part. Conclusions The unprecedented visiting restrictions in hospitals during the pandemic were like an “experiment” born out of necessity. Restricting visiting arrangements may be an underestimated beneficial component for the development of the mother-infant dyad in perinatal breastfeeding care, particularly in healthcare systems where almost all births occur in the maternity hospital. Trial registration German Clinical Trials Register (DRKS) (DRKS00027975).

Background Erucic acid is a long‐chain monounsaturated fatty acid that enters the food chain mainly via rapeseed oil. In 2016, the European Food Safety Authority (EFSA) issued a tolerable daily intake (TDI) of 7 mg/kg bodyweight per day, based on animal models in which a high intake of erucic acid leads to reversible myocardial lipidosis. Since erucic acid is also found in breast milk, maternal dietary exposure should be kept as low as possible. Objective Due to a lack of data on individual food sources and consumption quantities of erucic acid in breastfeeding women, a pilot study was conducted to assess dietary intake. Methods A validated semiquantitative Food Frequency Questionnaire (FFQ), including specific questions on the main food sources of erucic acid, was administered to 89 breastfeeding women at 1, 4, and 12 weeks postpartum (pp). Erucic acid concentrations were mainly derived from food analyses from Germany. Results Median erucic acid exposure was largely constant throughout the breastfeeding period (1, 4, and 12 weeks pp: 0.79, 0.47, 0.60 mg/kg BW/d, respectively), but interindividual variations were large. The major food sources of erucic acid were pastries with 28% (assuming rapeseed oil as an ingredient), followed by rapeseed oil used in the household (22%), mustard (24%), and salmon (16%). In various scenarios of erucic acid intake, even individuals with high consumption remained far below the TDI (7 mg/BW/d). Maternal predictors of the use of rapeseed oil in the household could not be identified. Conclusion The erucic acid exposure of breastfeeding mothers with the usual diet in Germany is likely far below the EFSA TDI. Trial Registration German Clinical Trials Registry: DRKS00023072

Purpose The transition to a planetary health diet goes along with the increase of plant-based alternatives to milk available on the market. Therefore, it is necessary to assess the consequences of replacing milk with plant-based drinks on the nutrient intake of young children on a balanced diet. Methods An internet search was conducted on plant-based drinks available on the German market. Scenarios of nutrient intake were calculated in which fluid cow’s milk was replaced by plant-based drinks in the menus of the Optimized Mixed Diet (OMD), the guideline balanced diet for children in Germany. Results Six different drinks made from legumes (soy), cereals (oats) and nuts (almonds) in three characteristic product types (basic, no fortification / basic + fortification / special products for children) were analyzed. The replacement had hardly any effect on the intake of energy and protein. However, the consequences for micronutrients were remarkable. By replacing milk with non-fortified plant-based drinks (around 80% of products on the market) the daily intake of calcium, vitamin B2, B12, and iodine was reduced to around 50%; with the fortified products, only the intake of iodine was reduced. With the children’s products, the supply of the micronutrients examined was maintained within the OMD. Conclusions The lack in important nutritional components (calcium, B12, B2, and iodine) as a consequence of replacement of cow’s milk with most of the plant-based drinks on the current market on nutrient intake of young children can hardly be foreseen by parents. Even minor-looking changes to a balanced diet require an expert opinion of advisors. Trial registration Number and date of registration for prospectively registered trials.

Background To investigate age-related severity, patterns of retinal structural damage, and functional visual recovery in pediatric and adult cohorts of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) optic neuritis (ON). Methods All MOGAD patients from the 5 participating centers were included. Patients with initial manifestation <18 years were included in the pediatric (MOGAD ped ) cohort and patients with ≥18 years in the adult (MOGAD adult ) cohort. For patients with MOGAD ON, examinations at least ≥6 months after ON onset were included in the analyses. Using spectral domain optical coherence tomography (SD-OCT), we acquired peripapillary retinal nerve fiber layer thickness (pRNFL) and volumes of combined ganglion cell and inner plexiform layer (GCIPL). High- and 2.5% low-contrast visual acuity (HCVA, LCVA) and visual-evoked potentials (VEP) were obtained. Results Twenty MOGAD ped (10.3±3.7 years, 30 MOGAD ON eyes) and 39 MOGAD adult (34.9±11.6 years, 42 MOGAD ON eyes) patients were included. The average number of ON episodes per ON eye was similar in both groups (1.8±1.3 and 2.0±1.7). In both pediatric and adult MOGAD, ON led to pronounced neuroaxonal retinal atrophy (pRNFL: 63.1±18.7 and 64.3±22.9 μm; GCIPL: 0.42±0.09 and 0.44±0.13 mm 3 , respectively) and moderate delay of the VEP latencies (117.9±10.7 and 118.0±14.5 ms). In contrast, visual acuity was substantially better in children (HCVA: 51.4±9.3 vs. 35.0±20.6 raw letters, p =0.001; LCVA: 22.8±14.6 vs. 13.5±16.4, p =0.028). Complete visual recovery (HCVA-logMAR 0.0) occurred in 73.3% of MOGAD ped and 31% MOGAD adults ON eyes, while 3.3% and 31% demonstrated moderate to severe (logMAR > 0.5) visual impairment. Independent of retinal atrophy, age at ON onset significantly correlated with visual outcome. Conclusion Pediatric MOGAD ON showed better visual recovery than adult MOGAD ON despite profound and almost identical neuroaxonal retinal atrophy. Age-related cortical neuroplasticity may account for the substantial discrepancy between structural changes and functional outcomes.