Search

Introduction: Spinocerebellar ataxia (SCA) type 34, a form of autosomal dominantly inherited ataxia, has recently been associated with mutations in the ELOVL4 gene. However, a genetic study of the prevalence of SCA34 in an ataxia cohort has never been reported., Methods: We performed a mutation screening of ELOVL4 in a cohort of 153 undiagnosed index ataxia patients, selected after excluding for common SCA types, in a series of 506 Japanese index ataxia patients., Results: Heterozygous mutation c.698C > T (p.T233M) was detected in an index patient with multisystem neurodegeneration including ataxia and erythrokeratodermia skin lesions, an archetypal skin phenotype in SCA34. The patient's father also presented with ataxia but not skin lesions. Although this mutation has been recently reported in a single English-Canadian patient, the present study confirms its cosegregation with the ataxia phenotype in the Japanese kindred. Brain magnetic resonance imaging (MRI) of the patient and his father revealed marked pontine and cerebellar atrophy as well as the hot cross bun sign, that is common in cerebellar type of multiple system atrophy and was also described in SCA34 patients harboring two other mutations: p.L168F and p.W246G., Conclusion: This represents the first genetic study of the prevalence of SCA34 in an ataxia cohort and demonstrates its low prevalence (0.2%) in ataxia patients. The broad SCA34 clinical spectrum suggests variable multisystem neurodegeneration. Clinicians should be aware of this rare disease entity, particularly if erythrokeratodermia or the hot cross bun sign in MRI are present in undiagnosed degenerative ataxia patients., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Stomach contents of 437 age-0 year Pacific bluefin tuna Thunnus orientalis (20·3-59·4 cm fork length, L(F)) caught in the Tsushima Current and the Kuroshio regions around Japan were examined to investigate their ontogenetic diet shift. Prey compositions were diverse and different between regions. Although the seasonal growth patterns were different between regions, ontogenetic diet shifts shared a common pattern. In the Tsushima Current region (Sea of Japan), small T. orientalis (20-25 cm L(F)) preyed upon small squid (juvenile Enoploteuthis chunii), and larger ones (25-35 cm L(F)) gradually shifted their diet to mesopelagic fish (Maurolicus japonicus). In the Kuroshio region (Pacific Ocean), small T. orientalis (20-25 cm L(F)) preyed upon small zooplankton (mostly crustacean larvae), and larger ones (25-40 cm L(F)) shifted to epipelagic fishes (Etrumeus teres, Sardinops melanostictus and Engraulis japonicus). The observed data suggest that T. orientalis switch to a diet more based on fish prey items, which have more body mass and greater swimming ability than small squid and zooplankton, after they reach a L(F) of 25 cm., (© 2012 The Authors. Journal of Fish Biology © 2012 The Fisheries Society of the British Isles.)

Brooding of egg masses by a squid in Japan is described. Brooding females were photographed in situ, and the females, their eggs, and their hatchlings were collected. The squid had all undergone gelatinous degeneration and swam slowly and continuously by undulating the fins and expelling water sporadically through the funnel. Eggs were held together by a dark, viscous material that formed a single-layer, sheet-like mass, from which hatchlings were seen to emerge. The annual appearance of brooding females in surface waters during spring suggests that they transport their egg masses from deep water to the surface before the eggs hatch. Genetic analyses identified the squid as Gonatus madokai (family Gonatidae), now the second gonatid and third squid known to brood.

Twelve species of deep-sea fishes collected in 2005 from the western North Pacific, off-Tohoku, Japan were analyzed for organohalogen compounds. Among the compounds analyzed, concentrations of DDTs and PCBs (up to 23,000 and 12,400 ng/g lipid wt, respectively) were the highest. The present study is the foremost to report the occurrence of brominated flame retardants such as PBDEs and HBCDs in deep-sea organisms from the North Pacific region. Significant positive correlations found between delta(15)N ( per thousand) and PCBs, DDTs and PBDEs suggest the high biomagnification potential of these contaminants in food web. The large variation in delta(13)C (per thousand) values observed between the species indicate multiple sources of carbon in the food web and specific accumulation of hydrophobic organohalogen compounds in benthic dwelling carnivore species like snubnosed eel. The results obtained in this study highlight the usefulness of deep-sea fishes as sentinel species to monitor the deep-sea environment., (Copyright 2009 Elsevier Ltd. All rights reserved.)

The giant squid, Architeuthis, is renowned as the largest invertebrate in the world and has featured as an ominous sea monster in novels and movies. Considerable efforts to view this elusive creature in its deep-sea habitat have been singularly unsuccessful. Our digital camera and depth recorder system recently photographed an Architeuthis attacking bait at 900 m off Ogasawara Islands in the North Pacific. Here, we show the first wild images of a giant squid in its natural environment. Recovery of a severed tentacle confirmed both identification and scale of the squid (greater than 8 m). Architeuthis appears to be a much more active predator than previously suspected, using its elongate feeding tentacles to strike and tangle prey.

Organochlorine (OCs) and butyltin (BTs) residues were determined in deep-sea organisms collected from the western North Pacific, off-Tohoku, Japan. Among OCs, concentrations of polychlorinated biphenyls (PCBs) and DDTs (DDTs and its metabolites) were the highest in deep-sea organisms (maximum concentrations of 6,700 and 13,000 ng/g lipid wt, respectively). Chlordane compounds (CHLs) were the next most abundant OCs, and hexachlorocyclohexanes (HCHs) and hexachlorobenzene (HCB) were the lowest. BTs were also detected at maximum concentrations of 570 ng/g wet wt. Concentrations of PCBs, CHLs and BTs in deep-sea organisms collected from the western North Pacific, off-Tohoku, were generally lower than those in deep-sea and shallow water organisms from Japanese coastal waters. On the other hand, considerable variations in the concentrations of OCs were found among deep-sea organisms analyzed. Several carnivorous fishes such as snubnosed eel, lanternshark and grenadiers accumulated some OCs such as PCBs, DDTs and CHLs at high concentrations of up to a few microg/g levels. In addition, the residue pattern of OCs and BTs in fishes showed a specific trend according to the sampling depth; higher concentrations of PCBs, DDTs and CHLs and lower concentrations of HCHs, HCB and BTs were found in fishes collected from greater depth (approximately 1,000 m) compared to those from shallower waters. This trend is consistent with the results of our earlier study on mesopelagic myctophid fishes. Results of this study suggest vertical transport of hydrophobic OCs such as PCBs, DDTs and CHLs and its accumulation in benthic deep-sea organisms.

Objectives: To develop a health/medical data interchange model for efficient electronic exchange of data among health-checkup facilities., Results: A Health-checkup Data Markup Language (HDML) was developed on the basis of the Standard Generalized Markup Language (SGML), and a feasibility study carried out, involving data exchange between two health checkup facilities. The structure of HDML is described., Results: The transfer of numerical lab data, summary findings and health status assessment was successful., Conclusions: HDML is an improvement to laboratory data exchange. Further work has to address the exchange of qualitative and textual data.

The cortex and medulla areas, sectioned frontally, of 50 kidneys from 25 dissecting cadavers were measured to determine the correlation between differences in sex, laterality, and age. The average parenchyma (cortex + medulla) area was 33.45 +/- 9.16 cm2 and was larger in men than women; there was no significant laterality, but the parenchyma area was negatively correlated with age. The average cortex area was 20.39 +/- 5.80 cm2 and was also larger in men than women; laterality was not significant, and the cortex area was negatively correlated with age. The average medulla area was 13.05 +/- 4.40 cm2, and no significant difference in sex or laterality was found. The medulla area was negatively correlated with age. Additionally, the average number of renal pyramids (medulla) was 6.24 +/- 1.45 on these sections. Difference in the average areas of cortex and medulla was significant. The medulla was exceptionally larger in two cases (4%). The ratio between the average area of the cortex and medulla (C/M ratio) was 1.67 +/- 0.56. No sex difference or laterality was found, nor was there a correlation between the C/M ratio and age or kidney size. The sectioned area of cortex was approximately 1.5 to 2 times larger than medulla. These results suggest that senile atrophy may occur at the same rate in the renal cortex as in the medulla.