Menkes Kinky Hair Disease Presenting with Pseudoperiodic Tonic Spasms during the Clinical Course

A case of Menkes kinky hair disease presenting with pseudoperiodic tonic spasms during the clinical course is described. The reported case had been treated by parenteral copper administration since 10 days of age. Although he gradually appeared to deteriorated mentally and developmentally and developed West syndrome at eight months of age, he had no convulsive seizures until four years of age. At four years of age, tonic spasms, which tended to be i.e. pseudoperiodic appeared. He had two types of tonic spasms, flexor spasms and extensor spasms. An ictal EEG also revealed different patterns, including diffuse desynchronization superimposed over the low voltage fast activities of during the flexor spasms and fast activities appeared only during extensor spasms. Both of these ictal events were dominantly in the left hemisphere on a EEG and each of the tonic spasms was easily controlled with phenytoin. The possibility must be entertained that the presented tonic spasms may have been partial seizures

Effects of valproic acid on the cell cycle and apoptosis through acetylation of histone and tubulin in a scirrhous gastric cancer cell line

Background. Management of peritoneal dissemination is the most critical problem in gastric cancer. This study was performed to investigate the inhibitory effects of valproic acid (VPA) on a highly peritoneal-seeding cell line of human scirrhous gastric cancer, OCUM-2MD3, and to explore the mechanism and the potential of VPA. Methods. The effects of VPA on the growth of OCUM-2MD3 cells were assessed by MTT assay. In addition, paclitaxel (PTX) was combined with VPA to evaluate their synergistic effects. HDAC1 and HDAC2 expression were evaluated by western blotting in OCUM-2MD3 cells and other gastric cancer cell lines (TMK-1, MKN-28). The acetylation status of histone H3 and α-tubulin after exposure to VPA were analyzed by western blotting. The activities of cell cycle regulatory proteins and apoptosis-modulating proteins were also examined by western blotting. The effects of VPA in vivo were evaluated in a xenograft model, and apoptotic activity was assessed by TUNEL assay. Results. OCUM-2MD3 cells showed high levels of HDAC1 and HDAC2 expression compared with TMK-1 and MKN-28. The concentration of VPA required for significant inhibition of cell viability (P < 0.05) was 5 mM at 24 h and 0.5 mM at 48 h and 72 h. The inhibition of VPA with PTX showed dose-dependent and combinatorial effects. VPA increased acetyl-histone H3, acetyl α-tubulin, and p21WAF1 levels accompanied by upregulation of p27, caspase 3, and caspase 9, and downregulation of bcl-2, cyclin D1, and survivin. In the xenograft model experiment, the mean tumor volume of the VPA-treated group was significantly reduced by 36.4%, compared with that of the control group at 4 weeks after treatment (P < 0.01). The apoptotic index was significantly higher in the VPA-treated group (42.3% ± 3.5%) than in the control group (7.7% ± 2.5%) (P < 0.001). Conclusions. VPA induced dynamic modulation of histone H3 and α-tubulin acetylation in relation with the anticancer effect and the enhancement of PTX in the OCUM-2MD3 cell line. Therefore, VPA in combination with PTX is expected to be a promising therapy for peritoneal dissemination of scirrhous gastric cancer. © 2010 Yagi et al; licensee BioMed Central Ltd

Single Photon Emission Computed Tomography of Neonatal Periventricular Leukomalacia

We describe herein single photon emission computed tomography (SPECT) with 99mTc HM-PAO of a patient with neonatal cystic periventricular leukomalacia (PVL). The patient, who was a low birth weight infant of 27 weeks gestation weighing 1,290 g, had suffered from respiratory distress syndrome. Following surfactant replacement therapy, mechanical ventilation were carried out six days after birth. Serial cranial ultrasonography (US) showed periventricular high-echoic lesions followed by cyst formation at three weeks of age. Although cystic PVL was markedly observed on both cranial US and MRI, a SPECT study initially revealed no abnormal distribution of rCBF. A chronological SPECT study at nine months of age revealed decreased rCBF of 10% in the left hemisphere as compared to the contralateral side. At the time decreased rCBF was observed on SPECT, periventricular cyst formation tended to disappear on simultaneous MRI. It is known that PVL is an infarction which affects all the cellular elements of the white matter and may lead to abnormal myelination. SPECT studies may also useful to clarify the cerebral function in neonatal PVL

Dosimetric impact of stopping power for human bone porosity with dual-energy computed tomography in scanned carbon-ion therapy treatment planning

Yagi M., Wakisaka Y., Takeno J., et al. Dosimetric impact of stopping power for human bone porosity with dual-energy computed tomography in scanned carbon-ion therapy treatment planning. Scientific Reports 14, 17440 (2024); https://doi.org/10.1038/s41598-024-68312-y.Few reports have documented how the accuracy of stopping power ratio (SPR) prediction for porous bone tissue affects the dose distribution of scanned carbon-ion beam therapy. The estimated SPR based on single-energy computed tomography (SECT) and dual-energy CT (DECT) were compared for the femur of a Rando phantom which simulates the porosity of human bone, NEOBONE which is the hydroxyapatite synthetic bone substitute, and soft tissue samples. Dose differences between SECT and DECT were evaluated for a scanned carbon-ion therapy treatment plan for the Rando phantom. The difference in the water equivalent length was measured to extract the SPR of the examined samples. The differences for SPR estimated from the DECT-SPR conversion were small with − 1.8% and − 3.3% for the Rando phantom femur and NEOBONE, respectively, whereas the differences for SECT-SPR were between 7.6 and 70.7%, illustrating a 1.5-mm shift of the range and a dose difference of 13.3% at maximum point in the evaluation of the dose distribution. This study demonstrated that the DECT-SPR conversion method better estimated the SPR of the porosity of bone tissues than SECT-SPR followed by the accurate range of the carbon-ion beams on carbon-ion dose calculations

A Case of Congenital Cytomegalovirus Infection Presenting with Lissencephaly

We report here a case of congenital cytomegalovirus infection presenting with lissencephaly-pachygyria and the evaluation of neuroradiological studies of this case including ultrasonography, cranial computed tomography and magnetic resonance imaging. We propose that congenital cytomegalovirus infection during the early gestational period is one of the important causes of lissencephaly-pachygyria. Therefore, virological and immunological studies should be performed during the early neonatal period

Evaluation of Source Generators in Partial Seizures : Availability of Neuroradiological Images Superimposed on the Dipole Tracing

To clarify the anatomical localization of epileptic foci in childhood partial seizures, the source generators of interictal focal spikes were analyzed using a dipole tracing method and the effectiveness of a composite image diagnostic technique using neuroradiological images obtained by magnetic resonance imaging and single photon emission computed tomography was evaluated. The localization of electric source generators approximately reflects the abnormal lesions on neuroradiological images. However, the source generators tended to be located in the deep and/or peripheral parts of the abnormal regions. Even though systemic shifts in the position of optimal dipoles from their true positions is a limitation that must be taken into consideration, composite image diagnostic technique may be useful for evaluating the epileptogenic regions in partial seizures, and particularly, in children where noninvasive methods are preferable

Complete Resolution of Pseudomalignant Erosion in a Reflux Gastroesophageal Polyp with Proton Pump Inhibitor

Pseudomalignant erosion is a diagnostic pitfall for pathologists in the differential diagnosis of malignant neoplasms. Here, we present a challenging case of a biopsy specimen from the eroded head of a polyp at the esophagogastric junction. A malignant neoplasm could not be ruled out due to the presence of bizarre stromal cells. A second biopsy performed after the administration of a proton pump inhibitor (PPI) for 4 weeks revealed endoscopic resolution of the polyp along with the complete histological resolution of the bizarre stromal cells and led to the diagnosis of pseudomalignant erosion in a reflux gastroesophageal polyp. In conclusion, histological and endoscopic response to PPI therapy is an important clue for the correct diagnosis of reflux gastroesophageal polyps with pseudomalignant erosion

Spike Code Flow in Cultured Neuronal Networks

We observed spike trains produced by one-shot electrical stimulation with 8 × 8 multielectrodes in cultured neuronal networks. Each electrode accepted spikes from several neurons. We extracted the short codes from spike trains and obtained a code spectrum with a nominal time accuracy of 1%. We then constructed code flow maps as movies of the electrode array to observe the code flow of “1101” and “1011,” which are typical pseudorandom sequence such as that we often encountered in a literature and our experiments. They seemed to flow from one electrode to the neighboring one and maintained their shape to some extent. To quantify the flow, we calculated the “maximum cross-correlations” among neighboring electrodes, to find the direction of maximum flow of the codes with lengths less than 8. Normalized maximum cross-correlations were almost constant irrespective of code. Furthermore, if the spike trains were shuffled in interval orders or in electrodes, they became significantly small. Thus, the analysis suggested that local codes of approximately constant shape propagated and conveyed information across the network. Hence, the codes can serve as visible and trackable marks of propagating spike waves as well as evaluating information flow in the neuronal network

Development and characterization of a dedicated dose monitor for ultrahigh-dose-rate scanned carbon-ion beams

Yagi M., Shimizu S., Hamatani N., et al. Development and characterization of a dedicated dose monitor for ultrahigh-dose-rate scanned carbon-ion beams. Scientific Reports 14, 11574 (2024); https://doi.org/10.1038/s41598-024-62148-2.The current monochromatic beam mode (i.e., uHDR irradiation mode) of the scanned carbon-ion beam lacks a dedicated dose monitor, making the beam control challenging. We developed and characterized a dedicated dose monitor for uHDR-scanned carbon-ion beams. Furthermore, a simple measurable dose rate (dose rate per spot (DRspot)) was suggested by using the developed dose monitor and experimentally validating quantities relevant to the uHDR scanned carbon-ion beam. A large plane-parallel ionization chamber (IC) with a smaller electrode spacing was used to reduce uHDR recombination effects, and a dedicated operational amplifier was manufactured for the uHDR-scanned carbon-ion beam. The dose linearity of the IC was within ± 1% in the range of 1.8–12.3 Gy. The spatial inhomogeneity of the dose response of the IC was ± 0.38% inside the ± 40-mm detector area, and a systematic deviation of approximately 2% was measured at the edge of the detector. uHDR irradiation with beam scanning was tested and verified for different doses at the corresponding dose rates (in terms of both the average dose rate and DRspot). We confirmed that the dose monitor can highlight the characteristics (i.e., dose, dose rate, and dose profile) of uHDR-scanned carbon-ion beams at several dose levels in the monochromatic beam mode