The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.

Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder characterized with accumulation of cholesterol in endosomes and lysosomes. The diagnosis of NP-C is difficult due to its heterogeneous group of diseases. Biochemical diagnosis of NP-C is conducted by cholesterol staining with cultured skin fibroblasts and confirmed by the analysis of genetic mutations of NPC1 or NPC2 gene. Here, we report an easier biochemical diagnostic method with blood smear by filipin staining.

[Neurological sequelae of acute encephalopathy with febrile convulsive status epilepticus].

OBJECTIVE: The clinical characteristics of neurological sequelae in patients with acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) was elucidated. METHODS: We retrospectively reviewed 8 patients, which were admitted to our hospital from 2002 to 2011. RESULTS: In the subacute phase, transient neurological symptoms, such as dystonia (n = 3), choreoathetosis (n = 2), oral tendency (n = 5) and unilateral spatial neglect (n = 6), appeared from 3 weeks after onset. Then, severe intellectual disability (n = 7), attention deficit (n = 7), disturbance of communication skill (n = 7) and emotional disturbance (n = 2), persisted from one month after onset. Although seven patients resumed ambulatory abilities, six exhibited unstable gait without ataxia or muscular weakness. The neuroradiological findings on MRI corresponded to the clinical course. In the subacute phase, reversible bilateral signal changes were noted in the subcortical white matter (n = 8), caudate nuclei (n = 2), putamen (n = 1) and thalamus (n = 1). In the chronic phase, diffuse cortical atrophy, predominantly in the fronto-temporal lobes. Diffuse cortical atrophy suggested that the persistent neurological sequelae of AEFCSE represent cortical dysfunction. Therefore, we propose that the unstable gait in our patients was gait ataxia, being related to the frontal lobe dysfunction. CONCLUSIONS: These neurological findings of AEFCSE showed characteristic temporal changes, which should be considered in the development of rehabilitation programs.

Selective blockade of P2Y12 receptors by prasugrel inhibits myocardial infarction induced by thrombotic coronary artery occlusion in rats.

We evaluated the effects of prasugrel, a third-generation thienopyridyl prodrug, on P2Y12 receptors, adenosine 5'-diphosphate (ADP)-induced platelet aggregation, and myocardial infarction (MI) in rats. Oral administration of prasugrel (0.3-3 mg/kg) resulted in the dose-related inhibition of washed platelet aggregation induced by ADP (1-10 µM). Ex vivo [H]-2-MeS-ADP binding to platelet P2Y12 receptors was also inhibited by prasugrel in a similar dose range. The antiaggregatory effects of prasugrel correlated strongly with P2Y12 blockade with correlation coefficients of 0.85-0.92, suggesting that the antiaggregatory activity of prasugrel largely reflected P2Y12 blockade achieved in vivo. We further examined the effects of the in vivo P2Y12 inhibition by prasugrel (1-10 mg/kg, po) on MI induced by thrombotic coronary artery occlusion in rats. In surviving rats, infarct size at 24 hours after photoirradiation was evaluated. In the vehicle group, necrosis area/total left ventricular area was 37.9% ± 6.8% (mean ± SE, n = 7). At all prasugrel doses tested (n = 7 for each dose), necrosis area/total left ventricular area was significantly smaller than that in the vehicle group: 14.4% ± 4.0% for 1 mg/kg (P < 0.01), 19.8% ± 4.5% for 3 mg/kg (P < 0.05), and 14.8% ± 3.6% for 10 mg/kg (P < 0.01). At the highest administered dose of prasugrel (10 mg/kg), blood pressure and heart rate were unchanged. Arrhythmia was observed in 5 of 7 animals in the vehicle group at 24 hours after irradiation; in contrast, no arrhythmia was found in the group treated with prasugrel (10 mg/kg). Taken together, these results demonstrate that prasugrel is a selective P2Y12 inhibitor in vivo, providing effective inhibition of platelet aggregation and MI in rats.

[Epilepsy in patients with cerebral palsy--analysis of frequency and clinical prognosis].

This study was designed to investigate the incidence and prognosis of epilepsy in 109 patients with cerebral palsy and to attempt to correlate these clinical data with the type of palsy. The incidence of epilepsy, the onset of age and the type of first seizure were associated with the regions affected by palsy. A good association exists between tetraplegia and age-dependent epileptic encephalopathy. In patients with cerebral cortical lesions demonstrated by radiological examination, the incidence of epilepsy was significantly increased. The prognosis of epilepsy is not related to the type of palsy. In spastic palsy, the patients with epilepsy showed more severe intellectual disabilities.

Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.

The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period.