Early-onset LBSL: how severe does it get?

AIM: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is known as a relatively mild leukoencephalopathy. We investigated the occurrence of severe variants of LBSL with extensive brain magnetic resonance imaging (MRI) abnormalities. METHOD: MRIs of approximately 3,000 patients with an unknown leukoencephalopathy were retrospectively reviewed for extensive signal abnormalities of the cerebral and cerebellar white matter, posterior limb of the internal capsule, cerebellar peduncles, pyramids, and medial lemniscus. Clinical data were retrospectively collected. RESULTS: Eleven patients fulfilled the MRI criteria (six males); six had DARS2 mutations. Clinical and laboratory findings did not distinguish between patients with and without DARS2 mutations, but MRI did. Patients with DARS2 mutations more often had involvement of structures typically affected in LBSL, including decussatio of the medial lemniscus, anterior spinocerebellar tracts, and superior and inferior cerebellar peduncles. Also, involvement of the globus pallidus was associated with DARS2 mutations. Earliest disease onset was neonatal; earliest death at 20 months. INTERPRETATION: This study confirms the occurrence of early infantile, severe LBSL, extending the known phenotypic range of LBSL. Abnormality of specific brainstem tracts and cerebellar peduncles are MRI findings that point to the correct diagnosis.

Outdoor passive air monitoring of semi volatile organic compounds (SVOCs): a critical evaluation of performance and limitations of polyurethane foam (PUF) disks.

The most commonly used passive air sampler (PAS) (i.e. polyurethane foam (PUF) disk) is cheap, versatile, and capable of accumulating compounds present both in gas and particle phases. Its performance for particle associated compounds is however disputable. In this study, twelve sets of triplicate PUF-PAS were deployed outdoors for exposure periods of 1-12 weeks together with continuously operated active samplers, to characterize sampling efficiency and derive sampling rates (RS) for compounds belonging to 7 SVOC classes (including particle associated compounds). PUF-PAS efficiently and consistently sampled polychlorinated biphenyls (PCBs), organochlorine pesticides (OCPs), polycyclic aromatic hydrocarbons (PAHs), and eight novel brominated flame retardant (nBFR) compounds. Low accuracy and lack of sensitivity was observed for most polychlorinated dibenzo-p-dioxins/furans PCDD/Fs and polybrominated diphenyl ethers (PBDEs) (under the conditions of this study), with the exception of some congeners which may be used as qualitative markers for their respective classes. Application of compound specific RS was found crucial for all compounds except PCBs. Sampling efficiency of the particle associated compounds was often low.