Hemophilia and non-accidental head trauma in two siblings: lessons and legal implications.

Non-accidental head trauma (NAHT) is a common cause of traumatic brain injury in childhood, origin of profound and disabling neurological sequalae, and in the most disgraceful cases, ultimately death.Subdural hematoma (SDH) is the most common intracranial finding in NAHT. On the other hand, congenital bleeding disorders are a minor but a significant cause of ICH in the neonate and toddler. Not uncommonly, intracranial bleeding is the first sign of a severe inherited coagulation disorder. In the presence of an unexpected intracranial bleeding after a minor trauma or without a clear history of the related events, physicians and caregivers may be confronted to the dilemma of a possible child abuse. It must be bear in mind that physical abuse and bleeding disorders can co-exist in the same child.We report here the case of two siblings in whom a diagnosis of hemophilia coexisted with the presumption of a non-accidental head trauma. Child abuses were inflicted in both children with a spare time of 2 years. A diagnosis of mild hemophilia was prompted in the first sibling after initial NAHT, while inflicted trauma was evident in the second sibling after neuroimaging findings and concomitant lesions. Lessons from this case in co-existing bleeding disorders and inflicted trauma and legal implications derived will be discussed thereafter.The possibility of a bleeding disorder should be considered in all children presenting with unexplained bleeding at a critical site in the setting of suspected physical maltreatment, particularly intracranial hemorrhage (ICH).

Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.

BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most frequent cancer in childhood. Although intensive chemotherapy has improved survival in those patients, important side effects, including hyperbilirubinemia, are frequent. Gilbert syndrome (GS) is a frequent condition that causes a reduction in glucuronidation and intermittent hyperbilirubinemia episodes. This could provoke a greater exposure to some cytotoxic agents used in ALL, increasing the risk of toxicity. On the other hand, unexplained hyperbilirubinemia could lead to unnecessary modifications or even treatment withdrawals, which could increase the risk of relapse, but data regarding this in ALL pediatric population are scarce. METHODS: Retrospective study to analyze toxicity, outcome and treatment modifications related to GS in children diagnosed with ALL. RESULTS: A total of 23 of 159 patients were diagnosed with GS. They had statistically higher hyperbilirubinemias during all treatment phases (P < 0.0001) and a slower methotrexate clearance when it was administered during a 24-hr infusion at high doses (patients with GS: 74 hr ± 19 vs. patients without GS: 64 hr ± 8; P < .002). However, no relevant toxicity or delays in treatment were found in them. Finally, changes in treatment due to hyperbilirubinemia were only done in 5 patients with GS. CONCLUSIONS: Differences in outcome were not found in patients with GS. Universal screening for GS appears to be not necessary in pediatric patients with ALL. However, when hyperbilirubinemia is observed, it must be rule out in order to avoid unnecessary changes in treatment.

Multiplex real-time PCR for prompt diagnosis of an outbreak of human parainfluenza 3 virus in children with acute leukemia.

INTRODUCTION: Human parainfluenza virus type 3 (HPIV-3) causes significant morbimortality in immunocompromised patients. Outbreaks of severe pneumonitis have been previously described in this setting. MATERIALS AND METHODS: Retrospective observational study in children diagnosed with acute leukemia and a documented HPIV-3 infection in the context of a nosocomial outbreak occurred in a single center. RESULT: During summer 2012, an HPIV-3 infection was detected in six hospitalized children with acute leukemia. All the patients had respiratory symptoms and one of them suffered from parotitis. CONCLUSION: Early diagnoses using multiplex real-time polymerase chain reaction (PCR) let us control this outbreak. A phylogenetic analysis confirmed person-to-person transmission of a single HPIV-3 variant.

Attempt to normalize simulated exhaled nitric oxide according to ventilatory settings.

BACKGROUND: Simulated exhaled nitric oxide (eNO) depends on ventilatory settings used in different experimental conditions. OBJECTIVES: To normalize the simulated minute exhaled nitric oxide according to different ventilatory settings. WORKING HYPOTHESIS: Different ventilatory settings influence the concentrations of exhaled nitric oxide and these results can be normalized. METHODOLOGY AND STUDY DESIGN: We used a rubber lung model (50 ml) with an orifice through which a 3 mm endotracheal tube was introduced. The NO, which simulated that of endogenous production, was delivered through the base of the lung using a unidirectional rotameter and obtaining a concentration of around 25 ppb. The sample of gas was recorded through a 6 F arterial catheter introduced into the endotracheal tube to its tip. The ventilator used was a Babylog 8000. Air delivered was compressed and filtered and had an NO content of under 0.3 ppb. The NO level assessed was the plateau value given by the software of the Sievers NOA apparatus. Each experiment involved sampling during 1 min, three times. Normalization was done using a multiple cubic regression formula. RESULTS: An increase in respiratory frequency or in peak of inspiratory pressure were accompanied by a decrease in eNO (ppb). Minute volume was adjusted for the percentage of leakage given by the ventilator. Normalization was obtained analyzing 518 respirations with different ventilatory settings. The coefficient of variation fell from 15.5% to 0.27%. Validation of the normalization formula was performed in other three groups (320, 372, and 372 respirations) with different simulated NO concentrations (25, 16, and 50 ppb), resulting in reduction of the coefficient of variation from 42.7% to 9.3%, from 42.3% to 10.6% and from 45.2% to 9.6%, respectively. CONCLUSIONS: Normalization of simulated minute eNO according to ventilatory settings is possible using the equipment and experimental set-up reported. Extrapolation to patients is not possible without constraints.