Long-term follow-up of an individual with vitamin B6-dependent seizures

We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.</p

Evoked potentials in patients with Angelman syndrome

Evoked potentials were studied in four cases with Angelman syndrome. Chromosome 15ql1-13 deletion was proved in two cases and paternal uniparental disomy was proved in the rest. Prolonged photo-evoked eyelid microvibration latencies were noted in all four， while visual evoked potential latencies remained within normal limits in three of four. Interpeak latencies of wave I to wave V in auditory brainstem response were prolonged in two of four. Short latency somatosensory evoked potential was examined in two cases and prolonged interpeak latency of wave P3 to wave N1 was noted in one case. Brink reflex was examined in one case and prolonged R2 latency was noted. These findings suggest that the brainstem is disturbed in cases with Angelman syndrome

Long-term follow-up of an individual with vitamin B6-dependent seizures

We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period. At the age of 12 years 1 month, 2 months after withdrawal of vitamin B6, visual seizures began to occur frequently. Myoclonic seizures and occasional generalized convulsive seizures were also observed. At the same time, photoparoxysmal response and spontaneous diffuse spike–wave bursts were seen on her EEG. Myoclonic seizures were provoked by intermittent photic stimulation during the EEG. It is distinctive that visual seizures were one of the main seizure types in this patient, that her clinical course was relatively benign, and that she has normal intellectual outcome.</p

Inhibitory Function and Working Memory in Attention Deficit/Hyperactivity Disorder and Pervasive Developmental Disorders:Does a Continuous Cognitive Gradient Explain ADHD and PDD Traits?

To clarify the relationship between attention deficit/hyperactivity disorder (AD/HD) and pervasive developmental disorders (PDD), we investigated the common features and differences of these disorders in neuropsychological profiles. The subjects were 4 groups of Japanese boys aged 6 to 15 years, categorized by diagnosis:AD/HD (n＝20), PDD with comorbid AD/HD (PDD＋:n＝16), PDD without comorbid AD/HD (PDD－:n＝8), and typically developing (n＝60). We evaluated executive function (EF) through verbal and visuospatial memory tasks, the Go/NoGo task, and the color-word matching Stroop task. We performed a categorical analysis to estimate the effects of the 3 disorders on EF and a dimensional analysis to estimate the effects of symptom scales on EF. We found that the AD/HD and PDD＋ subjects had negative effects on verbal working memory and intra-individual response variability. The severity of these impairments was positively correlated with the inattentiveness score. The subjects with a PDD＋ or PDD－ diagnosis had poorer scores on interference control;the severity of this impairment was correlated with the PDD symptom score. Impairments in visuospatial working memory were detected in the AD/HD and PDD－ groups but not in the PDD＋ group. Impairments in inhibition of the pre-potent response were noted in all 3 categories. AD/HD and PDD share neuropsychological features, though each disorder has a specific impairment pattern. Our findings partially support the idea that AD/HD and PDD are on a spectrum

Effect of partial pancreatectomy on β-cell mass in the remnant pancreas of Wistar fatty rats

Wistar fatty rat, which has been established by transferring the fa gene of Zucker fatty rat to the Wistar Kyoto rat, has many features in common with human NIDDM. It exhibits hyperglycemic obesity with hyperinsulinemia and insulin resistance. It is unclear, however, whether a defect in the β-cell proliferation is related to the onset of diabetes mellitus together with insulin resistance in this model rat. To determine this, we compared non-fasting plasma glucose levels, insulin content and β-cell mass in the remnant pancreas of Wistar fatty rats with those in their diabetic-resistant lean counterparts after a 70% partial pancreatectomy. We also examined whether such a defect, if present, could be improved by either phlorizin or nicotinamide. We further investigated if there were any differences in these parameters between the phenotypically identical but genotypically different Wistar lean rats with a gene type of homogeneous Fa/Fa and that of heterogeneous Fa/fa. Male rats, 6 weeks of age, were allocated at random into two groups : 70% pancreatectomy (Px) and sham-pancreatectomy (sham). A sustained hyperglycemia was evident in the Px Wistar fatty rats after surgery, which was accompanied by a reduction of insulin content and β-cell mass in the remnant pancreas. The changes in insulin content and β-cell mass were unaffected by restoration of normoglycemia, induced by phlorizin injection. The administration of nicotinamide partially ameliorated the sustained hyperglycemia by a slight but not significant increase in β-cell mass. No discernible difference in the above parameters was observed between the Wistar lean rats with Fa/Fa and those with Fa/fa. These findings suggest that Wistar fatty rats have a poor capacity for proliferation of pancreatic β-cells, which causes the onset of overt diabetes along with insulin resistance due to extreme obesity

Numerical Analysis of a Hygrothermal Environment During Hot and Humid Seasons Considering Room Hygroscopicity and Air Conditioner Driving Mode

6th International Building Physics Conference, IBPC 2015This study aims to investigate the hygrothermal environment by estimating the room air conditioner (RAC) heat load in a room with hygroscopic materials. The sensible and latent heat capacity and the water retention quantity in the RAC indoor unit are tested in cooling and dehumidification operation modes. Then, a model is developed to predict their values and investigate room temperature and humidity. The RAC model numerical analysis estimates the heat load by taking into account indoor hygroscopicity. In particular, the water is retained from several hundred grams to approximately 1 kg in the indoor unit. The RAC model is implemented considering the heat exchanger temperature distribution. In the weak cooling dehumidification mode, the room relative humidity is maintained between larger than 5% and 8% of the target value with and without hygroscopicity, respectively. Hygroscopicity does not affect the heat load in the bedroom during night time

Preparation and Characterization of a Polyclonal Antibody against Brominated Protein

(Di)bromotyrosine is formed by the specific reaction of eosinophil peroxidase and can be used as an eosinophil activation marker. In the present study, an antibody for (di)bromotyrosine in proteins was prepared to investigate the pathogenesis of eosinophil-related diseases such as allergic responses. A rabbit polyclonal antibody was raised against brominated keyhole limpet hemocyanin. The specificity of the antiserum was investigated with an enzyme-linked immunosorbent assay (ELISA). The antiserum recognized brominated bovine serum albumin (BSA) and dibromotyrosine-conjugated BSA. The antiserum also reacted with chlorinated BSA and di-iodotyrosine-conjugated BSA. Moreover, the specificity of the antiserum was investigated using competitive ELISA. Dibromotyrosine and di-iodotyrosine inhibited the recognition of brominated BSA by the antiserum. However, the recognition of brominated BSA by the antiserum was not inhibited by bromotyrosine, chlorotyrosine, iodotyrosine, nitrotyrosine, aminotyrosine, phosphotyrosine, or tyrosine. These results suggested that the epitope of the antiserum is dihalogenated tyrosine. Immunohistochemically, the antiserum stained brominated rat eosinophils but not chlorinated or nitrated eosinophils. In conclusion, an antiserum for dihalogenated protein was prepared. It is expected that the antiserum will be useful for the analysis of the pathogenesis of allergic diseases such as asthma and atopic dermatitis

Loss of Parp-1 affects gene expression profile in a genome-wide manner in ES cells and liver cells

BACKGROUND: Many lines of evidence suggest that poly(ADP-ribose) polymerase-1 (Parp-1) is involved in transcriptional regulation of various genes as a coactivator or a corepressor by modulating chromatin structure. However, the impact of Parp-1-deficiency on the regulation of genome-wide gene expression has not been fully studied yet. RESULTS: We employed a microarray analysis covering 12,488 genes and ESTs using mouse Parp-1-deficient (Parp-1(-/-)) embryonic stem (ES) cell lines and the livers of Parp-1(-/- )mice and their wild-type (Parp-1(+/+)) counterparts. Here, we demonstrate that of the 9,907 genes analyzed, in Parp-1(-/- )ES cells, 9.6% showed altered gene expression. Of these, 6.3% and 3.3% of the genes were down- or up-regulated by 2-fold or greater, respectively, compared with Parp-1(+/+ )ES cells (p < 0.05). In the livers of Parp-1(-/- )mice, of the 12,353 genes that were analyzed, 2.0% or 1.3% were down- and up-regulated, respectively (p < 0.05). Notably, the number of down-regulated genes was higher in both ES cells and livers, than that of the up-regulated genes. The genes that showed altered expression in ES cells or in the livers are ascribed to various cellular processes, including metabolism, signal transduction, cell cycle control and transcription. We also observed expression of the genes involved in the pathway of extraembryonic tissue development is augmented in Parp-1(-/- )ES cells, including H19. After withdrawal of leukemia inhibitory factor, expression of H19 as well as other trophoblast marker genes were further up-regulated in Parp-1(-/- )ES cells compared to Parp-1(+/+ )ES cells. CONCLUSION: These results suggest that Parp-1 is required to maintain transcriptional regulation of a wide variety of genes on a genome-wide scale. The gene expression profiles in Parp-1-deficient cells may be useful to delineate the functional role of Parp-1 in epigenetic regulation of the genomes involved in various biological phenomena

Dynamics of rheumatoid joint

In the present communication the recent works done by the Rheumatism Research Group of Department of Orthopedic Surgery, Okayama University, are described. The principal findings may briefly be summarized as follows. 1. Pathohistological pictures of the synovial membrane are classified into six types. Among them, Fibrinoid type and Follicular-Fibrosis type are the representative ones of chronic rheumatoid arthritis. 2. For the evaluation of the systemic as well as the local activities in rheumatoid arthritis and for judging the therapeutic effect, some indices have been established. 3. Injection of steroid hormones into the local joints fails to give satisfactory results in advanced, chronic rheumatoid arthritis. In such instances the flushing of the joint with physiological saline solution is effective. 4. In the case of chronic rheumatoid arthritis where the inflammation of hand and phalangeal joints is marked, RA-test gives rapid and more intense reaction, and most of such cases are of Follicular-Fibrosis type. 5. When lymph follicles appearing in the synovial membrane are stained when methyl green pyronine, the arrangement of lymphoid cells and plasma cells becomes distinctly clear. By micro-autoradiographic observations it can be seen that ³H-thymindine injected into the joint cavity is mostly ingested by the lymphoid cells in lymph follicles. 6. In the observation by the fluorescent antibody method multinuclear leucocytes found in the joint fluid and in the peripheral blood react with 19S and 7S-gamma-globulins. 7. When the serum and the joint fluid of the patient with rheumatoid arthritis are fractionated, they separate into three peaks at 19S, 7S, and 4S. Both S. S. C. A.-test and L. F. T. tests reveal the peak at 19S. The serum of chronic hepatitis positive to RA-test and the serum of rheumatoid arthritis are found to react immunologically the same to anti-&#946;2 M globulin sheep serum. 8. When the reticulo-endothelial system of rat is blocked by 900,000 molecules of poly-vinyl-pyrroridon, the ability of antibody production is diminished. 9. Chemical synovectomy of injecting osmic acid is effective to FibrinoidCoating type. Its action mechanism lies in the complete cleaning of the surface of synovial membrane. 10. By radiating synovectomy with 193Au a fairly good result can be expected. 198Au is ingested by those cells in the surface layer of the synovial membrane and also by histiocytes in the synovial membrane. When 5 mc of 198Au are injected into the knee joint, a marked necrosis of the synovial membrane occurs. When 198Au is added to the ascites cells of rabbit during the tissue culture, in the concentration of over 14 &#956;C degeneration of these cells can be recognized. 11. From the examination results of prognosis on those 25 cases with 41 rheumatoid knee joints after surgical synovectomy, it is considered that this method is indicated for Follicular-Fibrosis type. Ones with rheumatoid knee joint of Fibrinoid-Coating type gold sol treatment should be resorted to. In the cases of hand joints, surgical synovectemy is to be recommended at a relatively early stage.</p