Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation.

Hereditary spinocerebellar ataxia (SCA) is a group of clinically and genetically heterogeneous inherited disorders characterized by slowly progressive cerebellar ataxia. We ascertained a Japanese pedigree with autosomal dominant SCA comprising four family members, including two patients. We identified a GGCCTG repeat expansion of intron 1 in the NOP56 gene by Southern blotting, resulting in a molecular diagnosis of SCA36. RNA sequencing using peripheral blood revealed that the expression of genes involved in ribosomal organization and translation was decreased in patients carrying the GGCCTG repeat expansion. Genes involved in pathways associated with ribosomal organization and translation were enriched and differentially expressed in the patients. We propose a novel hypothesis that the GGCCTG repeat expansion contributes to the pathogenesis of SCA36 by causing a global disruption of translation resulting from ribosomal dysfunction.

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A.

Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2:c.1805T>G (p.Leu602Arg), which is predicted to be functionally deleterious; therefore, this variant is likely responsible for EA2 in this pedigree.

A case of a pilocytic astrocytoma with histological features of anaplasia and unprecedent genetic alterations.

We report a case of pediatric glioma with uncommon imaging, morphological, and genetic features. A one-year-old boy incidentally presented with a tumor in the fourth ventricle. The tumor was completely resected surgically and investigated pathologically. The mostly circumscribed tumor had piloid features but primitive and anaplastic histology, such as increasing cellularity and mitosis. The Ki-67 staining index was 25% at the hotspot. KIAA1549::BRAF fusion and KIAA1549 partial deletions were detected by direct PCR, supported by Sanger sequencing. To the best of our knowledge, this is the first report of a glioma with both deletion of KIAA1549 p.P1771_P1899 and fusion of KIAA1549::BRAF. The tumor could not be classified using DNA methylome analysis. The present tumor fell into the category of pilocytic astrocytoma with histological features of anaplasia (aPA). Further studies are needed to establish pediatric aPA.

Value of fat-suppressed T2-weighted imaging for predicting short-term pain relief after sclerotherapy for venous malformations in the extremities.

PURPOSE: This study aimed to evaluate the value of fat-suppressed T2-weighted imaging (FS-T2WI) for predicting short-term pain relief after polidocanol sclerotherapy for painful venous malformations (VMs) in the extremities. MATERIALS AND METHODS: This retrospective study included patients with painful VMs in the extremities between October 2014 and September 2021, had their first sclerotherapy without history of surgical therapy, and underwent magnetic resonance imaging before sclerotherapy. Pain relief was assessed 2 months after 3% polidocanol sclerotherapy and was categorized as follows: progression, no change, partial relief, or free of pain. The associations between pain relief and imaging features on FS-T2WI were analyzed. RESULTS: The study included 51 patients. The no change, partial relief, and free of pain groups included 6 (11.8%), 25 (49.0%), and 20 (39.2%) patients, respectively. No patient experienced progressive pain. The lesion diameter was ≤ 50 mm in 13 (65.0%) patients in the free of pain group, whereas it was > 50 mm in all patients in the no change group (p = 0.019). The lesions showed well-defined margin in 15 (75.0%) patients in the free of pain group, whereas they showed ill-defined margin in 5 (83.3%) patients in the no change group (p = 0.034). The most common morphological type was cavitary in the free of pain group (14 [70.0%] patients), whereas there was no patient with cavitary type lesion in the no change group (p = 0.003). Drainage vein was demonstrated in 6 (100%), 22 (88.0%), and 11 (55.0%) patients in the no change, partial relief, and free of pain group, respectively (p = 0.011). CONCLUSION: A lesion size of 50 mm or less, a well-defined margin, a cavitary type, and no drainage vein on FS-T2WI were significant features for predicting short-term pain relief after polidocanol sclerotherapy for painful VMs in the extremities.

A Japanese family with dystonia due to a pathogenic variant in SGCE.

Dystonia (DYT) is a heterogeneous neurological disorder, and there are many types of DYT depending on the responsible genes. DYT11 is an autosomal dominant DYT caused by functional variants in the SGCE gene. We examined a Japanese patient with myoclonic dystonia. By using exome analysis, we identified a rare variant in the SGCE gene, NM_003919.3: c.304C > T [Arg102*], in this patient. Therefore, this patient has been molecularly diagnosed with DYT11. By Sanger sequencing, we confirmed that this variant was paternally inherited in this patient. By allele-specific PCR, we confirmed that the maternally inherited normal allele of SGCE was silenced, and only the paternally inherited variant allele was expressed in this patient. Despite the pathogenicity, identical variants have been recurrently reported in eight independent families from different ethnicities, suggesting recurrent mutations at this mutational hotspot in SGCE.

Identifying marine debris source position using adjoint marginal sensitivity method and stranded beach litter data in Singapore.

Movement of marine debris is transboundary and complex, travelling vast distances and accumulating on shorelines. These marine debris wash ashore as stranded beach litter. The objective of this work is to identify release sources of marine debris accumulated along the Singapore coastlines collected by applying a time-backward adjoint marginal sensitivity method and citizen science data of stranded beach litter by a voluntary beach clean-up group. A popular tourist hotspot on the opposite shore was estimated as a possible release source contributing to the marine debris accumulation. This analytical result was validated by population density, industry types, rainfall, and inference from product packaging labels. The use of the citizen science data also illustrated potential as a data source for baseline monitoring and long-term cross-border research that influence policymaking. Future research can be conducted in an expanded domain, considering monsoon effects and instantaneous release events.

Fate of river-derived microplastics from the South China Sea: Sources to surrounding seas, shores, and abysses.

Microplastics (MPs) in the ocean have been widely recognized as causing global marine environmental problems. To gain a quantitative and comprehensive understanding of oceanic MP contamination, detailed numerical Lagrangian particle tracking experiments were conducted to evaluate the regional oceanic transport and dispersal of MPs in the South China Sea (SCS) derived from three major rivers, Pearl (China), Mekong (Vietnam), and Pasig (the Philippines), which are known to discharge large amounts of plastic waste into the SCS. As previous field surveys have suggested, MP contamination spreads from the surface to the deeper ocean in the water column, we thus considered three types of MPs: (1) positively buoyant (light) MPs, (2) positively buoyant (light) MPs with random walk diffusion, and (3) full 3-D tracking of non-buoyant MPs that are passively transported by ambient currents. Transport patterns of these MPs from the three rivers clearly showed the intra-annual variability associated with seasonally varying circulations driven by the Asian monsoons in the SCS. Many MPs floating during the prevailing southwest monsoon are transported to the northwest Pacific Ocean and the East China Sea through the Luzon Strait and the Taiwan Strait to form MP hotspots. Non-buoyant MPs are broadly transported from the surface layer to depths of approximately 100 m or deeper, where in situ observations are rare. In addition, the buoyant MPs drifting on the continental shelf originating from southern China tend to be pushed toward the shore and beached by northward wind-induced currents more pronouncedly than the non-buoyant MPs. Therefore, the river-derived MPs to the SCS were found to serve as sources to adjacent basins and oceans, to be distributed not only in the upper layer but also in the abyssal ocean (non-buoyant MPs), and to be transported to the shores (buoyant MPs).

Relationship between Transient Cortical Blindness and Contrast Medium Leakage That Occurs after Endovascular Treatment of Posterior Circulation Aneurysms.

Objective: The mechanism of transient cortical blindness after endovascular treatment-a rare phenomenon-has not been elucidated; however, it is assumed to be related to contrast medium leakage (CML). We investigated the relationship between postoperative CML and cortical blindness in patients who underwent endovascular treatment for vascular lesions of posterior circulation. Methods: This retrospective cohort study included 28 patients who underwent endovascular treatment for posterior circulation aneurysms at our hospital between January 2014 and December 2018. Cerebral CT was performed immediately after endovascular treatment and 24 h later. CT images were retrospectively evaluated with special interest in the presence and distribution of leakage of the contrast medium (CM). Patients were classified into the following three groups based on CT findings: Group A, no CML (11 patients); Group B, unilateral CML (5 patients); and Group C, bilateral CML (9 patients). Results: The posterior circulation aneurysms were located in the basilar artery in 13 (52.0%) cases, in the posterior cerebral artery in 1 (4.0%) case, and in the vertebral artery in 11 (44.0%) cases. There was no difference regarding the adjunctive technique used for endovascular treatment between the groups. Patients in Group C used a significantly larger amount of CM than those in the other two groups. A longer operation time was associated with a larger amount of CM used during treatment. VerifyNow assay revealed that the P2Y12 reaction unit was significantly lower in Groups B and C. Cortical blindness was transiently observed in 2 of 9 patients (22.2%) in Group C, both of which showed CML surrounding the bilateral parieto-occipital sulcus. Conclusion: Both patients with cortical blindness showed bilateral CML, both of which showed CML surrounding the bilateral parieto-occipital sulcus. The CM-induced blood-brain barrier disruption may be the cause of cortical blindness.

A storm-induced flood and associated nearshore dispersal of the river-derived suspended 137Cs.

Accidental leakage of radionuclides from the Fukushima Nuclear Power Plant (FNPP1) took place in the aftermath of the catastrophic tsunamis associated with the Great East Japan Earthquake that occurred on March 11, 2011. Significant amount of radionuclides released into the atmosphere were reportedly transported and deposited on land located near FNPP1. The Niida River, Fukushima, Japan, has been recognized as a terrestrial source of highly contaminated suspended radiocesium adhering to sediment particles in the ocean through the river mouth as a result of hydrological processes. Remaining scientific questions include the oceanic dispersal and inventories of the sediments and suspended radiocesium in the ocean floor derived from the Niida River. Complementing limited in situ data, we developed a quadruple nested 3D ocean circulation and sediment transport model in an extremely high-resolution configuration to quantify the transport processes of the suspended radiocesium. Particularly, we investigated the storm and subsequent floods associated with Typhoon 201326 (Wipha) that passed off the Fukushima coast in October 2013, and subsequently promoted precipitation to a considerable extent and associated riverine freshwater discharge along with sediment outfluxes to the ocean. Using in situ bed sediment core data obtained from regions near the river mouth, we conducted a quantitative assessment of the accumulation and erosion of the sediments and explored the resultant suspended radiocesium distribution around the river mouth and nearshore areas along the Fukushima coast. We identified three major accumulative areas, near the river mouth within an area < 1 km, around the breakwaters in the north of the river mouth, and along the southern coastal area, while offshore and northward transports were minor. The present study clearly exhibits substantial retention of the land-derived radiocesium adsorbed to the sediments in the coastal areas, leading to possible long-term influences on the surrounding marine environment.

A modeling study on the oceanic dispersion and sedimentation of radionuclides off the coast of Fukushima.

We developed a three-dimensional prognostic oceanic dispersion model that accounted for the phase transfer of radionuclides between seawater, suspended particles, and seabed sediments with multiscale grain sizes. A detailed hindcast of 137Cs in the seabed sediment off the Fukushima coast was conducted to investigate the transfer mechanism of dissolved 137Cs derived from the Fukushima Daiichi Nuclear Power Plant (FNPP1) accident toward the seabed sediment. Extensive model-data comparison demonstrated that the model could satisfactorily reproduce the oceanic structure and 137Cs concentrations in the seawater and seabed sediment. The model successfully reproduced the major features of the observed spatial variation of the 137Cs activities in the sediment, which represented more than 90% of the sedimentary radiocesium existing in the coastal area off Fukushima several months after the accident. Shear stress associated with the resuspension of the seabed sediment was induced by waves near the shore and by current velocity offshore of the study area. The adsorption of 137Cs on the seabed sediment differed depending on the particle size, with adsorption on clay being the most substantial. The distribution of 137Cs in the sediment off the Fukushima coast was formed mainly owing to adsorption from the dissolved phase by June 2011, when the impact of the direct oceanic 137Cs release from FNPP1 was remarkable. After June 2011, seabed sediment became a source of 137Cs released to the seawater owing to resuspension with and desorption from the sediment.

Intracranial solitary fibrous tumor/hemangiopericytoma mimicking cystic meningioma: A case report and literature review.

Intracranial solitary fibrous tumor/hemangiopericytoma (SFT/HPC) is a relatively rare type of tumor that originates from meningeal mesenchyme. A 30-year-old man presented leaning his body to the left and with weakness of his left lower limb. Computed tomography revealed a heterogeneous mass with multiple cystic components and hyperostosis of the right cranial convexity. Magnetic resonance imaging showed the mass was broadly attached to the dura matter with dural tail sign. In addition, the lesion had extensive cystic degeneration and a solid compartment showing low apparent diffusion coefficient values. The patient underwent gross total resection of the intracranial lesion and presented no recurrence within a 12-month follow-up period. Histopathology confirmed SFT/HPC (World Health Organization grade Ⅱ). Although there have been several useful techniques reported to differentiate SFT/HPC from meningioma, in this case the atypical findings for SFT/HPC made it difficult. We report the imaging findings of this case and some literature reviews.

Entropy Based Student's t-Process Dynamical Model.

Volatility, which represents the magnitude of fluctuating asset prices or returns, is used in the problems of finance to design optimal asset allocations and to calculate the price of derivatives. Since volatility is unobservable, it is identified and estimated by latent variable models known as volatility fluctuation models. Almost all conventional volatility fluctuation models are linear time-series models and thus are difficult to capture nonlinear and/or non-Gaussian properties of volatility dynamics. In this study, we propose an entropy based Student's t-process Dynamical model (ETPDM) as a volatility fluctuation model combined with both nonlinear dynamics and non-Gaussian noise. The ETPDM estimates its latent variables and intrinsic parameters by a robust particle filtering based on a generalized H-theorem for a relative entropy. To test the performance of the ETPDM, we implement numerical experiments for financial time-series and confirm the robustness for a small number of particles by comparing with the conventional particle filtering.

Identification of coral spawn source areas around Sekisei Lagoon for recovery and poleward habitat migration by using a particle-tracking model.

A massive coral bleaching event occurred in 2016 in the interior of Japan's largest coral lagoon, the Sekisei Lagoon, located in the Kuroshio upstream region in southwestern Japan. Recovery of the coral lagoon will require the influx of coral spawn and larvae; therefore, it is important to identify and conserve source sites. A surface-particle-tracking simulation of coral spawn and larvae was used to identify source areas of coral spawn outside of the Sekisei Lagoon for potential recovery of the interior lagoon. The northern coastal zone of Iriomote Island, including Hatoma Island, was identified as a major source area. Hatoma Island was also identified as a key source for the Kuroshio downstream region and for aiding the poleward migration of coral habitat under ongoing global climate change, making it one of the most important source areas in the Nansei Archipelago.

Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.

Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by episodic involuntary movement attacks triggered by sudden movements, acceleration, or intention to move. We ascertained two Japanese familial cases with PKD. The proband is a 22-year-old woman who had noted sudden brief (<30 s) of involuntary movements provoked by kinesigenic trigger such as starting to run, getting on a train, picking up a telephone receiver and so on at the age of 14. Interictal brain single photon emission computed tomography (SPECT) showed hyperperfusion in the left thalamus. A 46-year-old woman, the mother of the proband was also suffering from brief attacks triggered by starting to run in her high school days. On neurological examination, both showed no abnormality. Whole exome sequencing combined with rigorous filtering revealed two heterozygous nonsynonymous variants (NM_001447: c.8976G > C [p.Gln2992His] in FAT2 and NM_015678: c.8596C > T [p.Arg2866Trp] in NBEA). Real time quantitative PCR analysis of Nbea mRNA levels in the developing rat brain revealed peak at postnatal day 28 and decline at postnatal day 56. This result might match the most common clinical course of PKD from the point of view of the most common age at remission. NBEA has been reported to be responsible for neurodevelopmental disease accompanied by epilepsy. We concluded the variant in NBEA most likely to be responsible for our familial cases of PKD.

Bilateral parkinsonism in a patient with infarcts involving the unilateral basal ganglia.

We describe a 61-year-old woman with bilateral parkinsonism caused by unilateral infarction limited to the territory of the lenticulostriate arteries. Although dopamine transporter imaging with single-photon emission computed tomography (DaTSPECT) demonstrated reduced putaminal tracer binding concordant with the size and location of the vascular lesion, the specific binding ratio was within the normal range. Five months after onset, the patient was free from parkinsonism without the use of any antiparkinsonian agents. When patients show bilateral parkinsonism, it is important to consider infarction of the lenticulostriate arteries. Additionally, DaTSPECT might be useful for predicting the prognosis of parkinsonism caused by infarction.

Follow-up non-contrast MRA after treatment of intracranial aneurysms using microcoils with prominent metallic artifact: a comparative study of TOF-MRA and Silent MRA.

PURPOSE: Some of the detachable microcoils are associated with the prominent metallic artifact. We have applied Silent MRA to reduce the artifact. In this study, we present a retrospective study in which Silent MRA is used for cases showing prominent metallic artifact on conventional TOF-MRA due to a detachable bare platinum microcoil (Barricade coil). MATERIALS AND METHODS: Fifteen patients, who had undergone endosaccular embolization using Barricade coil and other detachable microcoils up to 3 days previously, were scanned with TOF-MRA and silent MRA at the same time. The treatment DSA and follow-up MRA images were graded by two experienced neuroradiologists, focusing on the visibility of residual aneurysm and parent arterial lumen. RESULTS: DSA images showed residual aneurysm (RA) in four, residual neck (RN) in six, and complete occlusion (CO) in five patients. TOF-MRA images showed RN in five, CO in four, mild defect (MD) in one, severe defect (SD) in three, and complete defect in two. In contrast, on Silent MRA, the grades were RA in two, RN in five, CO in five, and MD in three. CONCLUSION: Barricade coils are associated with prominent metallic artifact on TOF-MRA. Silent MRA is useful for follow-up MRA after embolization using Barricade coils. The metallic artifacts were compared between TOF-MRA and Silent MRA in patients treated by using Barricade coils. Barricade coils are associated with more metallic artifact on TOF-MRA than Silent MRA. Silent MRA is useful for follow-up MRA after embolization using Barricade coils.

Sagittal diffusion-weighted imaging in preventing the false-negative diagnosis of acute brainstem infarction: Confirmation of the benefit by anatomical characterization of false-negative lesions.

BACKGROUND: In some cases of acute brainstem infarction (BI), standard axial diffusion-weighted imaging (DWI) does not show a lesion, leading to false-negative (FN) diagnoses. It is important to recognize acute BI accurately and promptly to initiate therapy as soon as possible. METHODS: Of the 171 patients with acute cerebral infarctions in our institution who were examined, 16 were diagnosed with true-positive BI (TP-BI) and six with FN-BI. We evaluated the effectiveness of sagittal DWI in accurately diagnosing acute BI and sought to find the cause of its effectiveness by the anatomical characterization of FN-BIs. RESULTS: Considering the direction of the brainstem perforating arteries, we supposed that sagittal DWI might more effectively detect BIs than axial DWI. We found that sagittal DWI detected all FN-BIs more clearly than axial DWI. The mean time between the onset of symptoms and initial DWI was significantly longer in the TP group (17.6 ± 5.5 h) than in the FN group (5.0 ± 1.2 h; P < 0.0001). The lesion volumes were much smaller in FN-BIs (259 ± 82 mm3) than in TP-BIs (2779 ± 767 mm3; P = 0.0007). FN-BIs had a significant inverse correlation with the ventrodorsal length of infarcts (FN 3.5 ± 1.1 mm, TP 11.4 ± 3.6 mm; P < 0.0004) and no correlation with other size parameters such as rostrocaudal thickness and lateral width. CONCLUSION: Anatomical characterization clearly confirmed that the addition of sagittal DWI to the initial axial DWI in suspected cases of BI ensures its accurate diagnosis and improves the patient's prognosis.

On relaxation of the influences of treated sewage effluent on an adjacent seaweed farm in a tidal strait.

An Eulerian passive tracer model coupled with a quadruple-nested 3D circulation model was used to assess the coastal dispersal of treated wastewater effluent from a sewage treatment plant and the associated impacts on an adjacent seaweed farm using three different operational scenarios. When the discharged volume and source effluent fluxes were decreased by ~16.7%, the accumulated effluent in the farm was reduced by ~25.4%. A tracer flux budget analysis revealed the apparent predominance of the transient component that accounts for the nonlinear interactions primarily from tidal currents and eddies. The transient flux promoted the effluent influx to impede effluent accumulation in the farm, whereas the mean flux contributed to the outgoing flux. A source flux reduction caused a remarkable decrease in the transient flux and thus an even greater effluent accumulation reduction. In turn, a modified source density scenario without total effluent volume change did not work as expected.

Reversible Conduction Failure in Anti-lactosylceramide-antibody-positive Combined Central and Peripheral Demyelination.

We describe a 60-year-old woman with combined central and peripheral demyelination who presented with obstinate constipation, weakness in the lower limbs, and a bilateral sensory disturbance below her chest followed by girdle sensation in the right region of the abdomen, which was responsive to steroid therapy and plasmapheresis. Serum anti-lactosylceramide antibody was positive without anti-neurofascin 155 antibody or anti-galactocerebroside antibody positivity. Two months later, the patient had a first relapse that was responsive to steroid treatment. A nerve conduction study confirmed reversible conduction failure (RCF) in both episodes. Our case is unique in that she had an RCF episode as well as some similarities to encephalomyeloradiculoneuropathy.

Fractional generalized Cauchy process.

This paper presents a fractional generalized Cauchy process (FGCP) with an additive and a multiplicative Gaussian white noise for describing subordinated anomalous fluctuations. The FGCP displays intermittent dynamics on random time durations, whose analytical representation is given by the Ito[over ̂] stochastic integral. The associated probability density function is given by a generalized Cauchy distribution at the stationary state. A fractional Feynman-Kac formula is utilized to show that weak ergodicity breaking of the FGCP depends on the existence of the subordinator and/or the divergence of variance.