Surgical Treatment of Ischial Ulcers Associated with Deposition of ß2-Microglobulin in Two Cases of Dialysis-related Amyloidosis.

The accumulation of ß2-microglobulin due to long-term hemodialysis is known as dialysis-related amyloidosis, a rare phenomenon that manifests as a subcutaneous mass. Subcutaneous ß2-microglobulin amyloidomas are predominantly located on the buttocks. Owing to the load-bearing properties of this location and proximity to the anus, amyloidomas on the buttocks may be prone to pressure ulcers and infection. This report presents two cases of long-term hemodialysis patients who required surgical treatment for infected ulcers caused by buttock amyloidomas. In the first case, treatment failed after the amyloidoma was excised and covered with a single-stage skin flap. In the second case, successful treatment was accomplished by reducing the volume of the amyloidoma, followed by a pause to allow for granulation growth and a two-stage skin graft. Amyloids of this nature are known to be cytotoxic; thus, a robust wound preparation technique should be used until the excision site is fully covered with granulation tissue before wound closure is initiated at the time of surgery. In addition, buttock amyloidomas often extend subcutaneously through the hip joint, and repeated infections may lead to more severe outcomes, such as hip joint infections. The number of dialysis-related amyloidosis patients has been increasing in recent years; thus, we report these case studies to improve patient outcomes in similar cases.

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants have been reported to date. Here, through comprehensive genomic analysis, a novel BCL11B truncation variant, NM_138576.4(BCL11B_v001): c.2439_2452dup [p.(His818Argfs*31)], was identified in a Japanese male patient with developmental delay, distinctive features, and early craniosynostosis.

Silver Nanoscale Hexagonal Column Chips for Detecting Cell-free DNA and Circulating Nucleosomes in Cancer Patients.

Blood tests, which are commonly used for cancer screening, generally have low sensitivity. Here, we developed a novel rapid and simple method to generate silver nanoscale hexagonal columns (NHCs) for use in surface-enhanced Raman scattering (SERS). We reported that the intensity of SERS spectra of clinical serum samples obtained from gastrointestinal cancer patients is was significantly higher than that of SERS spectra of clinical serum samples obtained from non-cancer patients. We estimated the combined constituents on silver NHCs by using a field emission-type scanning electron microscope, Raman microscopes, and a 3D laser scanning confocal microscope. We obtained the Raman scattering spectra of samples of physically fractured cells and clinical serum. No spectra were obtained for chemically lysed cultured cells and DNA, RNA, and protein extracted from cultured cells. We believe that our method, which uses SERS with silver NHCs to detect circulating nucleosomes bound by methylated cell-free DNA, may be successfully implemented in blood tests for cancer screening.

Use of surface-enhanced Raman scattering for detection of cancer-related serum-constituents in gastrointestinal cancer patients.

Laser-mediated surface-enhanced Raman scattering (SERS) has industrial and biological applications. We have developed a rapid and simple method for generating silver nanoscale hexagonal columns (NHCs) on the surface of a phosphor bronze chip for measurement of SERS spectra. This was used to detect SERS spectra from blood samples obtained from patients with gastric cancer, colorectal cancer, or benign diseases (n=12 each) using a low intensity helium-neon red laser beam with a 632.8-nm wavelength; the intensity of the SERS spectra was compared among the patient groups. The peak heights of SERS spectra from patients with benign diseases were significantly lower than those from patients with gastric or colorectal cancer, whereas those from patients with gastric cancer and colorectal cancer did not differ significantly. Thus, SERS using NHC chips holds promise for the easier and faster detection of cancer-related serum-constituents as biomarkers. FROM THE CLINICAL EDITOR: In this study, laser-mediated surface-enhanced Raman scattering (SERS) was utilized as a sensitive detection method of cancer-related serum-constituents in gastric and colorectal cancer, via the use of silver nanoscale hexagonal columns on the surface of a phosphor bronze chip for measurement of SERS spectra, paving the way to the development of a rapid and high throughput tool for cancer screening and therapy monitoring.

Direct conversion of silver complexes to nanoscale hexagonal columns on a copper alloy for plasmonic applications.

We introduced a novel method for the rapid synthesis of silver nanohexagonal thin columns from an aqueous mixture of sodium thiosulfate (Na2S2O3) and silver chloride (AgCl) simply added to a phosphor bronze substrate. The reaction is based on galvanic displacement and the products are potentially useful for plasmonic applications.