SUMMARY Mitochondrial permeability transition is a phenomenon in which the mitochondrial permeability transition pore (PTP) abruptly opens resulting in mitochondrial membrane potential (ΔΨm) dissipation, loss of ATP production, and cell death. Several genetic candidates have been proposed to form the PTP complex however the core component is unknown. We identified a necessary and conserved role for spastic paraplegia 7 (SPG7) in Ca2+ and ROS-induced PTP opening using RNAi based screening. Loss of SPG7 resulted in higher mitochondrial Ca2+, similar to cyclophilin D (CypD, PPIF) knockdown with sustained ΔΨm during both Ca2+ and ROS stress. Biochemical analyses revealed that the PTP is a hetero-oligomeric complex composed of VDAC, SPG7 and CypD. Silencing or disruption of SPG7-CypD binding prevented Ca2+ and ROS-induced ΔΨm depolarization and cell death. This study identifies a ubiquitously expressed IMM integral protein, SPG7, as a core component of the PTP at the OMM and IMM contact site.

In newborns with hemophilia, intracranial hemorrhage (ICH) is a potentially life-threatening event and in those who survive, there is a risk of long-term neurologic sequelae. A single-center retrospective chart review was performed to look at the utility of central nervous system screening of babies who were diagnosed with moderate or severe hemophilia in the first 7 days of life. Twenty of the twenty-two eligible babies had either a head ultrasound or computerized tomography of the head performed as soon as possible after the diagnosis of hemophilia was confirmed. ICH was found in 3 of the 20 newborns. All patients with ICH had instrument-assisted deliveries with extracranial signs of bleeding/trauma. On the basis of this series we found screening to be safe and effective in recognizing ICH. As a result of this approach, all ICHs were found when they were radiographically small and before the babies had neurologic symptoms.

The use of emergency medical identification (EMI) such as MedicAlert(®) has been recommended for use in a variety of medical conditions; however, there is no consensus as to what form should be used and where they should be placed. There are also no uniform guidelines to direct first responders to where they should look for EMI in an emergency. The aim of this study was to identify current paediatric haemophilia nursing practice in educating families about EMI and their perceptions of patient/family adherence to using EMI. US haemophilia nurses listed on the Center for Disease Control's website received an email invitation to participate in a 30-item questionnaire posted on Survey-Monkey. Survey responses showed a wide variety of responses concerning recommendations about the form and location of EMI, particularly in the infant population. Nurses also reported that EMI was often not worn on the body and had low overall adherence. In the infant and preschool population, this was due to safety concerns, sizing, cost and parents not seeing the need for EMI. In school age and adolescents, the barrier to wearing EMI included stigma, cost and sizing. Collaboration is needed among nursing and medical staff, first responders, emergency room staff and manufacturers of EMI to develop standardized EMI which address these issues. Standard educational guidelines are needed to teach nurses and patient/families about the forms and location of EMI. Additionally, national guidelines are needed for the identification of paediatric EMI by first responders and emergency room staff.

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