Objective: Childhood spinal tumors often present with musculoskeletal symptoms, potentially causing a misdiagnosis and delays in diagnosis and treatment. This study aims to identify, characterize, and compare children with spinal tumors who had prior musculoskeletal misdiagnoses to those without, analyzing clinical presentation, diagnostic interval, and outcome. Study design: This retrospective cohort study evaluated all children aged 0-14 years diagnosed with a spinal tumor in Denmark from 1996 to 2018. The cohort was identified through the Danish Childhood Cancer Registry, and the registry data were supplemented with data from medical records. The survival was compared using the Kaplan-Meier method. Results: Among 58 patients, 57% (33/58) recieved musculoskeletal misdiagnoses before the spinal tumor diagnosis. Misdiagnoses were mostly non-specific (64%, 21/33), involving pain and accidental lesions, while 36% (12/33) were rheumatic diagnoses. The patients with prior misdiagnosis had less aggressive tumors, fewer neurological/general symptoms, and 5.5 months median diagnostic interval versus 3 months for those without a misdiagnosis. Those with prior misdiagnoses tended to have a higher 5-year survival of 83% (95% CI 63-92%) compared to 66% (95% CI 44-82%) for those without (p=0.15) Conclusion: Less aggressive spinal tumors may manifest as gradual skeletal abnormalities and musculoskeletal symptoms without neurological/general symptoms, leading to misdiagnoses and delays.

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplasia. An association with very early onset inflammatory bowel disease (VEO-IBD) has only been reported a few times. We report a Caucasian boy with a transfusion-dependent DBA phenotype from birth and severe ulcerative pancolitis from 10 months of age. He underwent successful allogeneic hematopoietic stem cell transplantation (HSCT) at 2 years of age. On follow-up 8 years old, he had normal bone marrow function and no bowel symptoms. HSCT was curative for both DBA and VEO-IBD. The underlying course of DBA and pancolitis remains elusive.

The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the reoccurrence of several alleles in different populations.

Introduction: Children treated for cancer with a central venous catheter are often bothered by scarring. We studied whether glucocorticosteroid during patch occlusion has a beneficial effect on scar outcome in children and adolescents treated for neoplastic disease. Methods: A double-blinded placebo-controlled randomized clinical trial was performed. The main outcome was the Vancouver Scar Scale (VSS). Secondary outcomes were scar width and scar quality measured using the Patient and observer scar assessment (POSAS). The patients were divided into an intervention groups and a control group. The intervention group was randomized into two groups; Active and placebo group. The active treatment consisted of cream with glucocorticosteroid and fusidic acid. The placebo treatment consisted of cream with fusidic acid. Both groups were also treated with a silicone gel patch for three months after central venous catheter removal. The control group did not receive any specific skin care. Results: Assessment at 6 months were completed for 44 in the intervention group (21 in the active and 23 in the placebo group) and 47 in the comtrol group. The intervention group had a significantly lower VSS and a smaller scar compared to the control group (p = 0.00, p = 0.02). The POSAS by the patients and the study nurse showed no significant difference between the intervention and control groups (p = 0.84, p= 0.36). Conclusions: Silicone gel sheet alone or in combination with application of glucocorticosteroid during sheet occlusion improved scar outcome after removal of central venous catheter in children treated for neoplastic diseases.

Introduction: Several studies on late effects of childhood cancer have been conducted during the past decades. To ensure external validation of a study population, the participation rate must be high. This study investigated demographic data in late effect studies and potential factors impacting on participation rates such as cancer type, time since diagnosis and duration of clinical examinations. Procedure: By searching the databases PubMed, Embase and Web of Science and by contacting researchers and clinicians, we identified studies including an invitation to a clinical examination for late effects after childhood cancer. Studies conducted from January 2010 - March 2020 in the Nordic countries were included. Results: We found 80 published studies originating from 16 cohorts. The overall participation rates ranged between 27 and 100%. The majority of studies (eleven studies) were conducted more than ten years after the cancer diagnosis and primarily on hematologic malignancies (seven studies). The highest participation rates were seen in studies of survivors with solid tumors (92%) and the lowest in survivors with hematologic malignancies (67%) and central nervous system tumors (73%). Neither duration of the clinical examination nor time since diagnosis seemed to affect the participation rate. Conclusion: A trend of lower participation rates when recruiting survivors of hematologic malignancies and central nervous system tumors was found. We encourage future studies to describe the recruitment process more thouroughly to improve understanding of the factors influencing participation rates.