Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in ...Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed.
Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations.
It is often hard to reach a definitive diagnosis of congenital alacrima because of the difficultly in proving the lack of lacrimal tissue. We report here the distinct tear protein profile in presumed ...congenital alacrima.
A 13-year-old girl with presumed congenital alacrima and 15 healthy volunteers aged 23-35 years were included in this study. Tears were collected using Schirmer strips, and tear protein analyses were performed. Tear samples were collected from the patient with alacrima before and after surgical punctal occlusion of both the upper and lower puncta, and tear protein extract was fractionated using HPLC. Lactoferrin and albumin concentrations in the tears were separately determined using ELISA.
The chromatogram in the patient greatly differed from that in normal subjects with low concentrations of secretory IgA, lipocalin-1, and lysozyme. ELISA results indicated that the tear fluid in the patient contained a high concentration of albumin but a minimal concentration of lactoferrin. Punctal occlusion improved the ocular surface findings, but major lacrimal protein concentrations remained low and tear albumin concentrations further increased.
The tear protein profile of a patient with presumed congenital alacrima greatly differed from that of normal subjects. Tear protein analysis may be useful in making a diagnosis of congenital alacrima and in assessing the efficacy and mechanism of punctal occlusion.
We have studied the formation of Pd42.5Cu30Ni7.5P20 metallic glass droplets and wires in the gas atomization process. We demonstrate that the sizes of droplets and wires can be distinguished by the ...Ohnesorge number (Oh), which is the proportion of the spinnability to the capillary instability, and the diameter distributions follow a log-normal distribution function, implying cascade fragmentation. For droplets, the number significantly increases at Oh < 1 but the diameter gradually decreases. For wires, the number greatly increases at Oh > 1 while the diameter steadies below 400 nm. Further, the wire diameter is quadrupled at Oh = 16 due to the high viscosity which suppresses both capillary breakup and ligament elongation.
Red blood cell (RBC) deformability has become one of the important factors to assess blood and cardiovascular diseases. The interest on blood studies have promoted a development of various ...microfluidic devices that treat and analyse blood cells. Recent years, besides the RBC deformability assessment, these devices are often applied to cancer cell detection and isolation from the whole blood. The devices for cancer cell isolation rely mainly on size and deformability of the cells. However, the examination of deformability of the RBCs mixed with cancer cells is lacking. This study aims at determining the deformation index (DI) of the RBCs in contact with cancer cells using a hyperbolic microchannel which generates a strong extensional flow. The DIs of human healthy RBCs and human RBCs in contact with a tumor cell line (HCT-15, colon carcinoma) were compared by analyzing the flowing RBCs images captured by a high speed camera. The results reveal that the RBCs that were in contact with HCT-15 cells have lower deformability than the normal RBCs.
Abstract During early development, centrally projecting dorsal root ganglion (DRG) neurons extend their axons toward the dorsal spinal cord. We previously reported that this projection is achieved by ...dorsal spinal cord-derived chemoattraction. However, the molecular nature of the chemotrophic cue is not yet fully understood. To identify novel genes differentially expressed in the dorsal spinal cord in the embryonic day 10.5 mouse, we used the Kazusa cDNA array system comprising approximately 1700 mouse KIAA/FLJ (mKIAA/mFLJ) cDNA clones and laser capture microdissection (LCM) in combination with PCR-based cDNA amplification. We observed that a certain population of genes showed significantly increased expression in the dorsal spinal cord. In situ hybridization analysis verified the expression of mRNAs of 6 genes ( Hip1r , Nav2 , Fstl5 , Cacna1h , Bcr , and Bmper ) in the cells that constitute the dorsal spinal cord. The dorsal spinal cord-specific genes identified in this study provide a basis for studying the molecular nature of the neural development including the axonal guidance of DRG neurons. These results also demonstrate that the combined use of LCM coupled with the Kazusa cDNA array technology will be useful for the identification of large proteins expressed in the restricted small regions of embryos.
Abstract This study aims model the distribution of meiofauna indicators in relation to environmental variables from the Santos Basin continental margin, SE Brazil, using machine learning techniques, ...to provide baseline information and foster future monitoring programs. A total of 100 sampling stations were distributed in eight transects and 11 isobaths (25 to 2,400 m) perpendicular to the coast. In each station, three replicates were sampled for meiofauna and 38 environmental parameters. A total of 28 meiofauna taxa were found, with a mean richness varying from 3 to 15 taxa per station. Meiofauna mean density varied between 55 and 2,001 ind. 10 cm-2. Density of meiofauna and its most frequent taxa (Nematoda, Copepoda, Kinorhyncha, and Polychaeta), and taxa richness were used as descriptors for the models. Meiofauna and nematode density showed the highest training and testing accuracies, with R² values above 0.74. Based on the distribution of meiofauna descriptors and their responses to environmental conditions, we suggest a mosaic of six benthic zones. The La Plata Plume zone and the Cabo Frio Upwelling zone are two of the most diverse and productive zones in the continental shelf, wich are separated by the less productive Central Continental Shelf zone. A fourth zone, with very low meiofauna densities, corresponds to the carbonated sediments of the shelf-break. The Upper and Mid-Slope is a narrow zone along the entire basin, with intermediate densities and small amounts of high-quality organic carbon. The largest, impoverished zone, the Lower Slope and Plateau comprises the deepest areas and the São Paulo Plateau. The study showed that, although some zones can be recognized by most meiofauna descriptors, others are better characterized by specific ones, implying that meiofauna indicators should be monitored concomitantly. We recommend the optimization of sampling design based on our model to reduce costs and increase our understanding of the system.
Members of the CED-3/interleukin-1β-converting enzyme (ICE) protease family have been implicated in cell death in both invertebrates and vertebrates. In this report, we show that peptide inhibitors ...of ICE arrest the programmed cell death of motoneurons in vitro as a result of trophic factor deprivation and in vivo during the period of naturally occurring cell death. In addition, interdigital cells that die during development are also rescued in animals treated with ICE inhibitors. Taken together, these results provide the first evidence that ICE or an ICE-like protease plays a regulatory role not only in vertebrate motoneuron death but also in the developmentally regulated deaths of other cells in vivo.
Imaging of the hypocentral faults of the Niigata–Chuetsu earthquake sequence was performed by double-difference tomography using data obtained by a temporary aftershock observation network densely ...deployed in the hypocentral region. Two parallel “unfavorly oriented” fault planes steeply inclined to the WNW are revealed, that of the main shock and that of the largest aftershock, as well as a zone of velocity change between the high-velocity footwall and the low-velocity hanging wall for both P- and S-waves. This suggests that the main shock and the largest aftershock are caused by the reactivation of normal faults in the Miocene under the current compressional stress regime. Parts of the fault planes are also found to be located within the low-velocity zone. This low-velocity zone continues to the lower crust, which is imaged by an inversion from the regional data, and would correspond with highly fractured zone around the fault plane with high fluid pressure, which reactivated the “unfavorly oriented” fault and triggered the present earthquake. Large coseismic slip area appears to extend to the northeastern portion with relatively high velocity. This suggests that the asperity (large coseismic slip area) of the main shock possibly correspond with a higher velocity region along the fault plane.
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