Katholisches Kinderkrankenhaus Wilhelmstift

Poikiloderma with neutropenia (PN) is a rare autosomal recessive disorder characterized by poikiloderma, neutropenia, and recurrent infections. We present a patient with PN carrying a novel homozygous pathogenic variant in the USB1 gene (c.547delC, p.Leu183Trpfs82*), and reviewed 90 PN cases reported since 1991 (including one new case) in order to assess genotype-phenotype correlations. Early symptoms included erythematous rash and recurrent infections (44% and 27% at 6 months, respectively), poikiloderma (88% at 12 months), and hepatosplenomegaly or elevated liver enzymes (22% at 12 months). Photosensitivity (21%) had a median onset at 21 months. Nail dystrophy and palmoplantar hyperkeratosis emerged later (36-48 months). Growth delay occurred in 53%, and 54% showed dental anomalies such as caries, hypodontia, or peg-shaped teeth. Notably, 17% developed malignancies-four non-melanoma skin cancers and 11 hematologic malignancies (AML, MDS, or pre-MDS), highlighting a significant oncogenic risk. Genetic analysis revealed 34 different pathogenic variants in the USB1 gene. Our findings underscore the importance of early recognition and long-term cancer surveillance in PN patients and provide a foundation for further research into USB1's role and the disorder's progression.

Time in range (TIR, 70-180 mg/dL) is an established marker of glycemic control. More recently, time in tight range (TTR, 70-140 mg/dL) has been proposed as well. The aim of this study was to examine the relationship between TIR, TTR, and HbA1c in youth and young adults with type 1 diabetes (T1D) in the German/Austrian/Luxembourgian/Swiss Diabetes Prospective Follow-up (DPV) registry. Data of youth and young adults aged ≤25 years with T1D for >3 months, documented in the DPV registry between 2019 and 2022 were analyzed. The most recent available HbA1c and corresponding continuous glucose monitoring (CGM) profiles in the 12 preceding weeks with at least 80% completeness were included. Associations were investigated using correlation and adjusted regression models. 1901 individuals (median age 14.0 years [IQR 10.4-16.9]) were included in the analysis. TIR and TTR correlated strongly, r = 0.965 (95% CI [0.962, 0.968]), P < .001. TTR estimates predicted from TIR were significantly higher in the group with high coefficient of variation (CV group ≥ 36%), P < .001. Correlations between TIR or TTR and HbA1c were both strong, r = -0.764 (95% CI [-0.782, -0.745]) and r = -0.777 (95% CI [-0.795, -0.759]), both P < .001, with no significant difference (P = .312) However, adjusted regression models indicated a slightly better fit for the prediction of HbA1c from TIR compared with TTR. Based on large, real-world data from a multinational registry, TIR and TTR correlated strongly, and both showed a good prediction of HbA1c. TTR estimates predicted from TIR were significantly higher in people with high glucose variability (CV).

Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are rare, predominantly drug-induced, acute life-threatening diseases of skin and mucosae. SJS and TEN are nowadays considered as variants of one disease entity with varying degrees of severity called epidermal necrolysis (EN). EN is associated with high morbidity and mortality and constitutes a major disease burden for affected patients. The guideline "Diagnosis and treatment of epidermal necrolysis (Stevens-Johnson syndrome and toxic epidermal necrolysis)" was developed under systematic consideration of existing scientific literature and in a formal consensus process according to regulations issued by the Association of Scientific Medical Societies in Germany (AWMF) to establish an evidence-based framework to support clinical decision-making. The interdisciplinary guideline commission consisted of representatives from various specialist societies and of patient representatives. The guideline is aimed at specialists in the fields of dermatology, ophthalmology, plastic surgery, intensive care, and pediatrics in hospitals and offices, as well as other medical specialties involved in the diagnosis and treatment of EN. The guideline is also aimed at patients, their relatives, insurance funds, and policymakers. The second part is concerned with the topics of supportive therapy in the acute phase of EN and outpatient follow-up treatment.

Ulnar dimelia often presents with restricted elbow movement. To develop a treatment strategy to improve elbow mobility, a detailed understanding of the skeletal deformity is needed. We created 3-D models of the cartilage and bone in the elbows of four children with ulnar dimelia by segmentation of MRI scans. We analysed the anatomy and performed a kinematic analysis. In all four children, the distal humerus was triangular in shape and consisted of a medial epicondyle, an enlarged lateral epicondyle and an anterior epicondyle. By comparing the 3-D images with conventional radiographs, we found that the projection of the enlarged lateral epicondyle created two longitudinal lines, which is a radiographic hallmark feature of the triangular-shaped distal humerus. In addition, during elbow flexion, the radial forearm bone slides along the lateral trochlea rather than rotates. This knowledge can aid surgeons to plan treatment for improving elbow mobility in ulnar dimelia.Level of evidence: IV.

Children with Type 1 diabetes (T1D) and their parent-caregivers often experience diabetes distress due to the daily demands of diabetes management. Regular screening for diabetes distress is needed to prevent the deterioration of metabolic control and the development of mental health disorders. The aim of this analysis was to examine the psychometric properties of the German versions of the Problem Areas in Diabetes Scale for Children (PAID-C) and for caregiver burden in Parents (P-PAID-C). Data were collected from 136 children aged 7-12 years (46.7% females) and 304 parents (Mage = 42.9 (SD 6.1) years; 78% mothers) by using linguistically translated questionnaires in a multicenter study. Confirmatory factor analysis and correlational analyses were conducted. Results confirmed the two-factor model for the PAID-C and the four-factor model for the P-PAID-C with a slight modification. Cronbach's αs for children and parents were 0.88 and 0.92, respectively. The PAID-C and P-PAID-C scores had small positive associations with HbA1c (rs = .220 and .139, respectively, all p < .05) and strong inverse association with the KIDSCREEN-10 index (r = -.643 and -.520, respectively, all p < .001). P-PAID-C scores increased with increasing depressive symptoms measured in nine-item Patient Health Questionnaire among parents (rs = .534, p < .001). The scores produced by the German PAID-C and P-PAID-C were reliable and valid in measuring diabetes burdens. These German versions of PAID can be utilized to assess diabetes-specific distress and to design interventions for children and their parents experiencing high levels of diabetes distress. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Until recently, no disease-specific health-related quality of life (HRQoL) questionnaire existed for pediatric traumatic brain injuries (TBIs). In this revalidation study, the psychometric properties and the validity of the 35-item QOLIBRI-KID/ADO questionnaire in its final German version were examined in 300 children and adolescents. It is the first self-reported TBI-specific tool for measuring pediatric HRQoL in individuals aged between 8 and 17 years. The six-factor model fits the data adequately. The questionnaire’s internal consistency was excellent for the total score and satisfactory to excellent for the scale scores. Intraclass correlations indicated good test–retest reliability, and the measure’s construct validity was supported by the overlap between the QOLBRI-KID/ADO and the PedsQL, which measures generic HRQoL. The discriminant validity tests showed that older children and girls reported a significantly lower HRQoL than comparison groups, and this was also true of children who were anxious or depressed, or who suffered from post-concussion symptoms, replicating the results of the questionnaire’s first developmental study. Our results suggest that the QOLIBRI-KID/ADO is a reliable and valid multidimensional tool that can be used together with the adult version in clinical contexts and research to measure disease-specific HRQoL after pediatric TBI throughout a person’s life. This may help improve care, treatment, daily functioning, and HRQoL after TBI.

Until recently, no disease-specific health-related quality of life (HRQoL) instrument existed for pediatric traumatic brain injury (TBI). In this revalidation study, the psychometric properties and the validity of the final German version of the 35-item QOLIBRI-KID/ADO questionnaire were examined in 300 children and adolescents. It is the first self-reported TBI-specific instrument for measuring pediatric HRQoL in individuals aged 8–17 years. The six-factor model fits the data adequately. Internal consistencies were excellent for the total score and satisfactory to excellent for the scale scores. Intraclass correlations indicated good test-retest reliability. Construct validity was supported by overlaps between the QOLBRI-KID/ADO and the PedsQL, which measures generic HRQoL. Discriminant validity indicated that HRQoL was significantly lower in older children and girls, and in those with anxiety, depression, and post-concussion symptoms than in comparison groups, replicating the results of the questionnaire’s first development study. Our results suggest that the QOLIBRI-KID/ADO is a valid and reliable multidimensional instrument for assessing disease-specific HRQoL after pediatric TBI in clinical and research settings, which can additionally be used across the lifespan in combination with the adult version. This may help to improve care, treatment, daily functioning and HRQoL after TBI.

Ich gratuliere den Autoren zu den zu 100% guten Ergebnissen nach konservativer Behandlung bei spontaner Besserung und nach operativer Therapie bei ausbleibender Besserung. Das spricht für einen gut funktionierenden Behandlungsalgorithmus. Auf zwei Aspekte möchte ich jedoch hinweisen.