A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene

Dystrophic epidermolysis bullosa (DEB) is a subepidermal bulla, characterized by severe itching, lichenoid or nodular prurigo-like lesions, skin erosion, scars, milia, and nail dystrophy, resulting from COL7A1 mutation. Herein, we report a case of dominant DEB with a G2043R mutation in COL7A1

A Biomechanical Approach to Investigate the Applicability of the Lake-Thomas Theory in Porcine Aorta

Robot-assisted surgeries are procedures where a physician performs surgical maneuvers by operating a robot. One of the main limitations is the difficulty in transferring the surgeon’s multiple skills onto the robotic system. Such skills include the ability to estimate the maximum applicable force before damaging the tissue. To implement this skill onto a robotic system, a mathematical model for tissue damage must be developed. The objective of this study is to measure the fracture characteristic in porcine aorta, to then investigate whether an existing fracture model can be applied onto biological tissues. Due to the similarity in the mechanical response between biological tissues and polymeric materials, the model chosen for this study was the Lake-Thomas model. This is the first paper with the aim of validating this model with biological tissues. Two main findings are reported in this investigation. We found that porcine thoracic aorta tears in a specific way which is directly correlated to the tensile direction. The second finding is that an anisotropic linear relationship exists between the critical tearing energy and the elastic modulus, and the elastic modulus to the -0.5th power. These results are discussed based on the elastin and collagen fibers, as well as established mathematical equations describing polymer mechanic

Exchange Anisotropy in Single Crystals of Cu-Mn Alloys

Low-temperature magnetic measurements have been carried out on the field-cooled single crystals of Cu-Mn alloys containing 14 to 23 at.% Mn. Torque measurements indicate that the easy direction of induced unidirectional anisotropy (exchange anisotropy) occurs in the direction of the field applied during cooling and that the constant of unidirectional anisotropy (e.g., 1.1×10^4 erg/cm^3 for 17.8 at.% Mn) is independent of the crystallographic direction of the field during cooling. The experimental result is interpreted on the basis of the nucleation and growth process of mutually-interacting ferromagnetic and antiferromagnetic domains. It has also been found that a small uniaxial anisotropy is additionally induced. The field-cooled specimen is almost free from the rotational hysteresis, this being in marked contrast to the large rotational hysteresis in the specimen cooled in zero field

Direct observation of miniband-edge singularities in the optical spectra of GaAs/AlAs superlattices.

Band-edge optical transitions in GaAs/AlAs superlattices with different miniband widths are investigated by low-temperature-photocurrent, photoluminescence-excitation, and reflectance spectroscopy. Direct spectroscopic evidence is given for excitonic effects at saddle-type critical points which are related to ${\mathit{M}}_{1}$ Van Hove singularities at the upper miniband edges, for both heavy-hole and light-hole excitons. Excellent agreement is obtained between the observed transition energies and the miniband widths deduced from Kronig-Penney model calculations

A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination

We report three boys (4, 6 and 8 years old) in a Japanese family with X-linked (XL) recessive severe mental retardation (MR), rigidospastic diplegia, mild athetotic movement of the upper limbs, delayed myelination and poor weight gain. Neurological manifestations were non-progressive. No deterioration of development, convulsion, cerebellar signs, dysarthria, pseudobulbar signs, or minor anomalies including facial dysmorphism or macro-orchidism were found. Ocular fundus was normal. The patients' mothers and one grandmother were clinically normal. Blood chemistry was within normal limits. Serum anti-human T-cell leukemia virus-I antibody titer was negative. Levels of plasma amino acids and serum very long chain fatty acids, and lysozomal enzyme activities from leukocytes were normal. Brain magnetic resonance imaging scans showed delayed myelination. Fragile X (FRAXA), fragile XE (FRAXE), proteolipid protein and L1 cell adhesion molecule (L1CAM) genes were normal. These findings were not consistent with previously reported 13 XLMR syndromes with paralysis. We conclude that this condition is a distinct and previously undescribed XLMR syndrome

Ability of minimally invasive surgery to decrease incisional surgical site infection occurrence in patients with colorectal cancer and other gastroenterological malignancies

BackgroundSurgical site infection (SSI) is one of the most important complications of surgery for gastroenterological malignancies because it leads to a prolonged postoperative hospital stay and increased inpatient costs. Furthermore, SSI can delay the initiation of postoperative treatments, including adjuvant chemotherapy, negatively affecting patient prognosis. Identifying the risk factors for SSI is important to improving intra- and postoperative wound management for at-risk patients.MethodsPatients with gastroenterological malignancies who underwent surgery at our institution were retrospectively reviewed and categorized according to the presence or absence of incisional SSI. Clinicopathological characteristics such as age, sex, body mass index, malignancy location, postoperative blood examination results, operation time, and blood loss volume were compared between groups. The same analysis was repeated of only patients with colorectal malignancies.ResultsA total of 528 patients (330 men, 198 women; mean age, 68 ± 11 years at surgery) were enrolled. The number of patients with diseases of the esophagus, stomach, small intestine, colon and rectum, liver, gallbladder, and pancreas were 25, 150, seven, 255, 51, five, and 35, respectively. Open surgery was performed in 303 patients vs. laparoscopic surgery in 225 patients. An incisional SSI occurred in 46 patients (8.7%). Multivariate logistic regression analysis showed that postoperative hyperglycemia (serum glucose level ≥140 mg/dl within 24 h after surgery), colorectal malignancy, and open surgery were independent risk factors for incisional SSI. In a subgroup analysis of patients with colorectal malignancy, incisional SSI occurred in 27 (11%) patients. Open surgery was significantly correlated with the occurrence of incisional SSI (P = 0.024).ConclusionsPostoperative hyperglycemia and open surgery were significant risk factors for SSI in patients with gastroenterological malignancies. Minimally invasive surgery could reduce the occurrence of incisional SSI

Label-Free Electrical Detection Using Carbon Nanotube-Based Biosensors

Label-free detections of biomolecules have attracted great attention in a lot of life science fields such as genomics, clinical diagnosis and practical pharmacy. In this article, we reviewed amperometric and potentiometric biosensors based on carbon nanotubes (CNTs). In amperometric detections, CNT-modified electrodes were used as working electrodes to significantly enhance electroactive surface area. In contrast, the potentiometric biosensors were based on aptamer-modified CNT field-effect transistors (CNTFETs). Since aptamers are artificial oligonucleotides and thus are smaller than the Debye length, proteins can be detected with high sensitivity. In this review, we discussed on the technology, characteristics and developments for commercialization in label-free CNT-based biosensors

Breast cancer cell lines carry cell line-specific genomic alterations that are distinct from aberrations in breast cancer tissues: Comparison of the CGH profiles between cancer cell lines and primary cancer tissues

<p>Abstract</p> <p>Background</p> <p>Cell lines are commonly used in various kinds of biomedical research in the world. However, it remains uncertain whether genomic alterations existing in primary tumor tissues are represented in cell lines and whether cell lines carry cell line-specific genomic alterations. This study was performed to answer these questions.</p> <p>Methods</p> <p>Array-based comparative genomic hybridization (CGH) was employed with 4030 bacterial artificial chromosomes (BACs) that cover the genome at 1.0 megabase resolution to analyze DNA copy number aberrations (DCNAs) in 35 primary breast tumors and 24 breast cancer cell lines. DCNAs were compared between these two groups. A tissue microdissection technique was applied to primary tumor tissues to reduce the contamination of samples by normal tissue components.</p> <p>Results</p> <p>The average number of BAC clones with DCNAs was 1832 (45.3% of spotted clones) and 971 (24.9%) for cell lines and primary tumor tissues, respectively. Gains of 1q and 8q and losses of 8p, 11q, 16q and 17p were detected in >50% of primary cancer tissues. These aberrations were also frequently detected in cell lines. In addition to these alterations, the cell lines showed recurrent genomic alterations including gains of 5p14-15, 20q11 and 20q13 and losses of 4p13-p16, 18q12, 18q21, Xq21.1 and Xq26-q28 that were barely detected in tumor tissue specimens. These are considered to be cell line-specific DCNAs. The frequency of the HER2 amplification was high in both cell lines and tumor tissues, but it was statistically different between cell lines and primary tumors (P = 0.012); 41.3 ± 29.9% for the cell lines and 15.9 ± 18.6% for the tissue specimens.</p> <p>Conclusions</p> <p>Established cell lines carry cell lines-specific DCNAs together with recurrent aberrations detected in primary tumor tissues. It must therefore be emphasized that cell lines do not always represent the genotypes of parental tumor tissues.</p