Larotrectinib treatment for infantile fibrosarcoma in newborns: a case report and literature review.

Infantile fibrosarcoma (IFS) is a rare tumor in childhood characterized by a single, localized, painless mass that grows rapidly but has a relatively indolent biological behavior and a favorable prognosis. Eighty-five percent of infantile fibrosarcomas are associated with t (12;15) (p13;25) chromosomal translocation resulting in ETV6-NTRK3 gene fusion, which provides the target for targeted therapy. Here, we report a case of IFS in a newborn with a mass in the left lower extremity confirmed by imaging, histopathological examination, tissue FISH testing, and high-throughput sequencing to detect gene rearrangement. Based on gene fusion targeted drug testing results, the patient was treated with standard doses of larotrectinib, resulting in significant mass shrinkage with no adverse effects, demonstrating the treatment effect of targeted therapy. This case provides a reference for using larotrectinib in newborns with IFS.

Neuroinflammation in Bilirubin Neurotoxicity.

Bilirubin neurotoxicity is a serious consequence of hyperbilirubinemia, which is the most common disease of the neonatal period. Clinically, bilirubin neurotoxicity can result in motor deficit, auditory dysfunction, cerebral palsy, seizure and neurodevelopmental diseases, amongst others. Bilirubin neurotoxicity is one of the major worldwide causes of neonatal brain injury, especially in poorer developing countries. However, the mechanisms of bilirubin neurotoxicity are still unclear. After the failure of attempts targeting neurons in many neurodegenerative disorders, neuroinflammation has become a significant target of research. Here, recent advances concerning neuroinflammation in bilirubin neurotoxicity are reported with a focus on the clinical characteristics of bilirubin neurotoxicity, including age-dependency, region-specificity and its yin-yang properties. Effects of neuroinflammation on blood brain interfaces and treatments targeting neuroinflammation in bilirubin neurotoxicity are also reviewed, which may promote the precision of future treatment of bilirubin neurotoxicity.

A clinical prediction rule for acute bilirubin encephalopathy in neonates with extreme hyperbilirubinemia: A retrospective cohort study.

To establish a clinical prediction rule for acute bilirubin encephalopathy (ABE) in term/near-term neonates with extreme hyperbilirubinemia.A retrospective cohort study was conducted between January 2015 and December 2018. Six hundred seventy-three out of 26,369 consecutive neonates with extreme hyperbilirubinemia were enrolled in this study. Data included demographic characteristics, total serum bilirubin (TSB), albumin, bilirubin/albumin ratio (B/A), direct antiglobulin test, glucose-6-phosphate deficiency, asphyxia, sepsis, acidosis. ABE was defined as a bilirubin induced neurological dysfunction score of 4 to 9. We used stepwise logistic regression to select predictors of ABE and devised a prediction score.Of the 673 eligible infants, 10.8% suffered from ABE. Our prediction score consisted of 3 variables: TSB (as a continuous variable; odds ratio [OR] 1.16; 95% confidence interval [CI], 1.02-1.31; logistic coefficient 0.15), B/A (as a continuous variable; OR 1.88; 95% CI, 1.19-2.97; logistic coefficient 0.67), and sepsis (OR 3.78; 95% CI, 1.40-10.21; logistic coefficient 1.19). Multiplying the logistic coefficients by 10 and subtracting 75, resulted in the following equation for the score: Score = 12 × (if sepsis) + 1.5 × (TSB) + 7 × (B/A) - 75. The model performed well with an area under the curve of 0.871.The risk of ABE can be quantified according to TSB, B/A, and sepsis in term/near-term neonates with extreme hyperbilirubinemia.

Atypical purpura location in a pediatric patient with Henoch-Schönlein purpura: A case report.

RATIONALE: The presence of purpura is a compulsory criteria for the diagnosis of Henoch-Schönlein purpura (HSP). Typical purpura of HSP is distributed symmetrically over the extensor surfaces of the lower limbs, buttocks, and forearms with the occasional involvement of trunk and face in children. It occurs only involving the bottom of the feet has never been reported. PATIENT CONCERNS: A 7-year-old girl was admitted to the hospital with abdominal pain, vomiting, and fever. DIAGNOSES: Combining clinical manifestations with results of radiologic examinations, acute appendicitis was suspected and a laparotomy was considered. Purpura was found on the bottom of her feet when she was in the operating room and HSP was diagnosed. INTERVENTIONS: The patient was treated with glucocorticosteroids, antibiotics, cimetidine, and restriction of feeding. OUTCOMES: The abdominal pain and purpura resolved at discharge and there were no recurrences in the subsequent 3-, 6-, and 12-month follow-ups. LESSONS: Careful examination of skin including the bottom of the feet can help to direct the diagnostic workup for children with abdominal pain.

Intravenous thrombolysis in Sneddon's syndrome.

Sneddon's syndrome (SS) is an uncommon disorder, characterized by the association of ischemic stroke and widespread livedo reticularis. The treatment options for SS to prevent stroke recurrence and future disability include antiplatelet therapy, anticoagulation, or immunosuppression. We describe a patient with SS who presented with an acute ischemic stroke, and was treated with intravenous recombinant tissue-plasminogen activator with significant neurologic improvement. To our knowledge this is the first report of the use of thrombolysis in SS patients with acute ischemic stroke. It suggests that thrombolytic therapy might be safe and effective in these patients.