Background
Mutations in PARK2 result in autosomal recessive young onset Parkinson’s disease (YOPD). Although there have been a number of reports on the clinical characteristics of PARK2-related PD, there is limited information available on the associated neuropathologic changes.
Design
We describe the clinical and pathological characteristics of a Peruvian family with YOPD. The proband and one unaffected sibling were screened for PARK2 dosage and point mutations. One affected sibling had detailed neuropathologic examination.
Setting
Instituto Nacional de Ciencias Neurologicas (INCN) in Lima, Peru
Results
The proband and two of her four siblings developed YOPD and both parents were unaffected. The clinical course has been characterized by akinetic-rigid parkinsonism predominantly affecting the lower limbs and dyskinesias. Analysis of PARK2 showed that the proband is compound heterozygous for a novel acceptor splice site mutation in intron 5 (IVS5-1G>A) and an exon 7 deletion. Neuropathologic assessment of an affected sibling revealed severe neuronal loss in the substantia nigra (SN) and loss of tyrosine hydroxylase immunopositive fibers in the striatum. No Lewy body pathology was observed using standard histology or immunohistochemistry for α-synuclein.
Conclusions
Consistent with most neuropathologic reports of patients with PARK2 mutations, we did not observe Lewy body inclusions, despite marked SN degeneration and severe dopaminergic denervation of the striatum. These data describe a novel splice site mutation and further extend the clinicopathological characterization of PARK2-associated PD.
In this paper, an efficient computational tool to predict the evolution of the key variables in the fruit refrigeration process is presented. This computational model is intended to be used in real time quality control.The tool is based on detailed mathematical models proposed in the literature which accounts for the main phenomena occurring during refrigeration. Since integration using standard numerical schemes leads to a computational cost unaffordable in real time environments, a reduced order model (ROM; able to combine a high accuracy with a low computational cost) is derived.In the derivation of this model, the role of the presence of quite disparate time scales is considered. In this respect, two alternative ROMs are considered: a general model (aiming at describing the evolution at arbitrary time scales) and a model assuming a strong coupling between the state variables (as expected in the long term behavior of the system).
PRACTICAL APPLICATIONSThe modeling reduction methodology proposed in this work for the fruit refrigeration process, either during storage or transport, will enable the use of computer-aided process engineering tools for reducing the computational load required to perform predictions. With such tools, optimal operation policies to maximize fruit quality, extend the storage time and/or minimize costs can be efficiently obtained. Also, in the event of unexpected disturbances, they will allow us to recompute in real time the operation policy, and in this way ensure a minimum quality lost.
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