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Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB simplex (EBS), dystrophic EB, and junctional EB (JEB). Mutations in the plectin gene (PLEC1) cause EBS associated with muscular dystrophy, whereas JEB associated with pyloric atresia (PA) results from mutations in the alpha6 and beta4 integrin genes. In this study, we examined three EB patients associated with PA from two distinct families. Electron microscopy detected blister formation within the basal keratinocytes leading to the diagnosis of EBS. Surprisingly, immunohistochemical studies using monoclonal antibodies to a range of basement membrane proteins showed that the expression of plectin was absent or markedly attenuated. Sequence analysis demonstrated four novel PLEC1 mutations. One proband was a compound heterozygote for a nonsense mutation of Q305X and a splice-site mutation of 1344G-->A. An exon-trapping experiment suggested that the splice-site mutation induced aberrant splicing of the gene. The second proband harbored a heterozygous maternal nonsense mutation, Q2538X and homozygous nonsense mutations R1189X. Analysis of the intragenic polymorphisms of PLEC1 suggested that R1189X mutations were due to paternal segmental uniparental isodisomy. These results indicate that PLEC1 is a possible causative gene in this clinical subtype, EBS associated with PA. Furthermore, two patients out of our three cases died in infancy. In terms of clinical prognosis, this novel subtype is the lethal variant in the EBS category.

Foraminiferal tests are commonly found in tsunami deposits and provide evidence of transport of sea floor sediments, sometimes from source areas more than 100 m deep and several kilometers away. These data contribute to estimates of the physical properties of tsunami waves, such as their amplitude and period. The tractive force of tsunami waves is inversely proportional to the water depth at sediment source areas, whereas the horizontal sediment transport distance by tsunami waves is proportional to the wave period and amplitude. We derived formulas for the amplitudes and periods of tsunami waves as functions of water depth at the sediment source area and sediment transport distance based on foraminiferal assemblages in tsunami deposits. We applied these formulas to derive wave amplitudes and periods from data on tsunami deposits in previous studies. For some examples, estimated wave parameters were reasonable matches for the actual tsunamis, although other cases had improbably large values. Such inconsistencies probably reflect: (i) local amplification of tsunami waves by submarine topography, such as submarine canyons; and (ii) errors in estimated water depth at the sediment source area and sediment transport distance, which mainly derive from insufficient identification of foraminiferal tests.

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Stable carbon and oxygen isotopic compositions (δ¹³C and δ¹⁸O) of benthic foraminiferal carbonate shells have been used to reconstruct past bottom-water environments. However, the details of factors controlling the isotopic disequilibrium between the shells and the surrounding bottom seawater (so-called the "vital effect") are still ambiguous. In this study, we analyzed the isotopic composition of individual benthic foraminifera of multiple species by using a customized high-precision analytical system, and found that the magnitude of the isotopic disequilibrium between benthic foraminiferal shell and the surrounding bottom seawater (δ¹³C_DIC and δ¹⁸O_water) in different species is correlated with inter-individual isotopic variations. As a result, we can choose suitable species as bottom-water proxies by using the inter-individual isotopic variations. In addition, by using the simplified interpretation of the inter-individual and inter-species isotopic variations established in this study, we could reconstruct the δ¹³C values of dissolved inorganic carbon in bottom water by correcting foraminiferal isotopic compositions for the isotopic shift resulting from the isotopic effects (vital effect, microhabitat effect, and many other reported isotopic effects). Our findings will allow the use of isotope data for benthic foraminifera as more reliable proxies for reconstructing past bottom-water conditions and evaluating global carbon cycling

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