Point Mutation of Hoxd12 in Mice

Purpose: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is coordinated by a control mechanism involving multiple genes during limb morphogenesis. In this study, mutant phenotypes were produced by treatment of mice with chemical mutagen, N-ethyl-N-nitrosourea (ENU). We analyzed mutant mice exhibiting the specific microdactyly phenotype and examined the genes affected. Materials and Methods: We focused on phenotype characteristics including size, bone formation, and digit morphology of ENU-induced microdactyly mice. The expressions of several molecules were analyzed by genome-wide screening and quantitative real-time PCR to define the affected genes. Results: We report on limb phenotypes of an ENU-induced A-to-C mutation in the Hoxd12 gene, resulting in alanine-to-serine conversion. Microdactyly mice exhibited growth defects in the zeugopod and autopod, shortening of digits, a missing tip of digit I, limb growth affected, and dramatic increases in the expressions of Fgf4 and Lmx1b. However, the expression level of Shh was not changed Hoxd12 point mutated mice. Conclusion: These results suggest that point mutation rather than the entire deletion of Hoxd12, such as in knockout and transgenic mice, causes the abnormal limb phenotype in microdactyly mice. The precise nature of the spectrum of differences requires further investigation.link_to_subscribed_fulltex

Does the Kyphotic Change Decrease the Risk of Fall?

ObjectivesFalls are a major problem in the elderly. Age-related degeneration of the human balance system increases the risk of falls. Kyphosis is a common condition of curvature of the upper spine in the elderly and its development occurs through degenerative change. However, relatively little is known about the effect of kyphotic changes on balance in the elderly. The aim of this study is to investigate the influence of kyphosis on the balance strategy through use of the motor control test (MCT) in computerized dynamic posturography.MethodsFifty healthy subjects who were not affected by other medical disorders that could affect gait or balance were enrolled in the study. By simulation of kyphotic condition through change of the angles of the line connecting the shoulder to the hip and the ankle axis by approximately 30°, the latency and amplitude of the MCT were measured in upright and kyphotic condition.ResultsIn the kyphotic condition, latency was shortened in backward movement. In forward movement, latency was shortened only in large stimulation. The amplitude in forward movement was decreased in kyphotic condition. However, the change of amplitude was not significant in large intensity backward movement in the same condition.ConclusionKyphotic condition decreases the latency of MCT, especially in backward movement. These findings imply that kyphotic condition may serve as a protective factor against falls

Two-gap and paramagnetic pair-breaking effects on upper critical field of SmFeAsO0.85_{0.85} and SmFeAsO0.8_{0.8}F0.2_{0.2} single crystals

We investigated the temperature dependence of the upper critical field [$H_{c2}(T)$] of fluorine-free SmFeAsO$_{0.85}$ and fluorine-doped SmFeAsO$_{0.8}$F$_{0.2}$ single crystals by measuring the resistive transition in low static magnetic fields and in pulsed fields up to 60 T. Both crystals show that $H_{c2}(T)$'s along the c axis [$H_{c2}^c(T)$] and in an $ab$-planar direction [$H_{c2}^{ab}(T)$] exhibit a linear and a sublinear increase, respectively, with decreasing temperature below the superconducting transition. $H_{c2}(T)$'s in both directions deviate from the conventional one-gap Werthamer-Helfand-Hohenberg theoretical prediction at low temperatures. A two-gap nature and the paramagnetic pair-breaking effect are shown to be responsible for the temperature-dependent behavior of $H_{c2}^c$ and $H_{c2}^{ab}$, respectively.Comment: 21 pages, 8 figure

Hepatocellular carcinoma with characteristic mucin production: a case report

We present a unique case of hepatocellular carcinoma with mucin-producing gland formation. A 53-year-old man with hepatitis B infection presented with weight loss for the past month. Computed tomography demonstrated a 10 × 9.8 cm mass in the right hepatic lobe accompanied by cirrhotic changes in the hepatic parenchyma. Right hepatectomy was performed, and the tumor cut surface showed a poorly-circumscribed, white to pink tumor with numerous nodules and extensive necrosis. Microscopically, the tumor was composed of thick trabeculae and large, irregularly-shaped islands, both of which were filled with pleomorphic eosinophilic hepatoid cells or gland-forming columnar cells with mucin production. Those cells were immunoreactive for cytokeratin 19 in both the trabeculae and the glands. In some tumor cells, limited immunoreactivity for cytokeratin 7, epithelial membrane antigen and carcinoembryonic antigen was noted. The cells forming thick trabeculae were focally positive for hepatocyte paraffin 1 and alpha-fetoprotein. We suggest that this tumor shows bidirectional differentiation into hepatocytes and cholangiocytes, supporting the concepts that human hepatocarcinogenesis can be based on transformation of progenitor cells which can imply divergent differentiation

Transition from Pemphigus Foliaceus to Pemphigus Vulgaris: Case Report with Literature Review

The transition between the main subtypes of pemphigus, pemphigus vulgaris (PV), and pemphigus foliaceus (PF) has rarely been reported. Moreover, the development of PV in a patient with PF is much more unusual than that of PF in a patient with PV. We report a 48-year-old man who presented with cutaneous lesions showing the typical clinical and histological features of PF. Five years later, his skin lesions became extensive and he developed oral erosions. His condition did not respond well to steroids and azathioprine. Histological examination of a vesicle disclosed suprabasal acantholysis in contrast to the subcorneal acantholysis discovered upon initial histological evaluation. Indirect immunofluorescence revealed IgG antikeratinocyte cell surface antibodies at a titer of 1:640. The titer was 1:160 at initial diagnosis. Upon immunoblotting, the patient's serum reacted with 130 kiloDalton (kDa) and 160 kDa proteins, suggesting desmoglein (Dsg) 3 and 1, respectively. We herein report an unusual case of PV that developed from PF during the disease's flare-up