ABSTRACT
A critical aspect of blood transfusion is the timely provision of high quality blood products. This task remains a significant challenge for many blood services and blood systems reflecting the difficulty of balancing the recruitment of sufficient donors, the optimal utilization of the donor's gift, the increasing safety related restrictions on blood donation, a growing menu of specialized blood products and an ever-growing imperative to increase the efficiency of blood product provision from a cost perspective. As our industry now faces questions about our standard practices including whether or not the age of blood has a negative impact on recipients, it is timely to take a look at our collective inventory management practices. This International Forum represents an effort to get a snap shot of inventory management practices around the world, and to understand the range of different products provided for patients. In addition to sharing current inventory management practices, this Forum is intended to foster an exchange of ideas around where we see our field moving with respect to various issues including specialty products, new technologies, and reducing recipient risk from blood transfusion products.
Subject(s)
Blood Banks/organization & administration , Inventories, Hospital/organization & administration , Adult , Americas , Asia , Blood Banks/statistics & numerical data , Blood Preservation/methods , Blood Preservation/standards , Blood Preservation/statistics & numerical data , Blood Transfusion/standards , Blood Transfusion/statistics & numerical data , Child , Cryopreservation , Erythrocyte Aging , Europe , Humans , Infant, Newborn , Medical Records , Surveys and Questionnaires , Time FactorsABSTRACT
Lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and ataxia, usually presenting in the second decade of life and inexorably progressing until death. Neuropathological hallmarks are Lafora bodies, intracytoplasmic inclusions that can be found in neurons and in other tissues. LD gene (EPM2A), mapping on chromosome 6, encodes for a tyrosine phosphatase protein called laforin. However, up to 20% cases of LD are not genetically linked to chromosome 6. We report two sisters affected from bioptically diagnosed LD but without evidence of EPM2A mutation. Although familial cases of LD are already reported in literature, our observation leads to some considerations on clinical-electrophysiological evolution as well as to remark the genetic heterogeneity of this condition. In addition, we report the good effect of the Levetiracetam for the treatment of myoclonus in these patients, also demonstrated by the electrophysiological findings.
Subject(s)
Carrier Proteins/genetics , Electroencephalography , Electromyography , Genetic Heterogeneity , Lafora Disease/genetics , Point Mutation , Adult , Biopsy , Cerebral Cortex/physiopathology , Chromosomes, Human, Pair 6 , Dominance, Cerebral/physiology , Evoked Potentials/physiology , Female , Genetic Carrier Screening , Humans , Lafora Disease/diagnosis , Lafora Disease/pathology , Lafora Disease/physiopathology , Protein Tyrosine Phosphatases/genetics , Protein Tyrosine Phosphatases, Non-Receptor , Skin/pathology , Ubiquitin-Protein LigasesABSTRACT
Epileptic seizures occur more frequently in multiple sclerosis (MS) patients than in the general population. We evaluated clinical, electroencephalographic (EEG) and magnetic resonance imaging (MRI) findings, as well as EEG-MRI correlations and the response to antiepileptic drugs (AEDs) in 270 consecutive patients with definite MS referred to our Department from 1995 to 2002. Thirteen (4.8%) subjects experienced epileptic seizures. In four cases, seizures manifested within 1-2 years ("early-onset"), and in six cases within 8-23 years ("late-onset") of MS diagnosis. Seizures were usually partial with secondary generalization. Thus, acute symptomatic seizures occurred in three cases. Epilepsy usually appeared late in the course of disease, although a single episode or a cluster of seizures can represent the onset symptom or a relapse of MS. Prognosis of epilepsy during the course of MS is usually good but the choice of AEDs remains a matter of debate.
