Two novel mutations of Wiskott–Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling

AbstractWiskott–Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia. Herein, two novel mutations of WAS at T336C on exon 3, and at 1326–1329, a G deletion on exon 10, resulting in L101P missense mutation and frameshift mutation 444 stop, respectively, are reported. The affected patients with either mutation showed severe suppression of WAS protein (WASP) levels, T cell proliferation, and CFSE-labeled T cells division. Because WASP L101 have not shown direct nuclear Overhauser effect (NOE) contact with the WASP-interacting protein (WIP) in NMR spectroscopy, molecular modeling was performed to evaluate the molecular effect of WASP P101 to WIP peptide. It is presumed that P101 induced a conformational change in the Q99 residue of WASP and made the side chain of Q99 move away from the WIP peptide, resulting in disruption of the hydrogen bond between Q99 WASP and Y475 WIP. A possible model for the molecular pathogenesis of WAS has been proposed by analyzing the interactions of WASP and WIP using a molecular modeling study

Low Temperature Synthesis of Hexagonal Shaped α

This study demonstrates the low temperature synthesis of α-Al2O3 by solvothermal method using gibbsite alumina precursor in 1, 4-butanediol solvent according to various pH conditions. In acidic solution, an orthorhombic boehmite (AlOOH) structure was obtained after solvothermal reaction. A significant result in this study was that the solvothermally synthesized alumina in pH=9 at 300 °C for 36 h represented a rhombohedral α-Al2O3 structure hexagonal shaped with about 1.5~2.0 μm of particle size. Otherwise, the α-Al2O3 structure was rather changed to the mixture of a boehmite and α-Al2O3 structures above pH=11. In the case of α-Al2O3 synthesized at pH=9, the specific surface area was 26.18 m2/g, and the particles that were stable in acidic solution resulted in 61.80 mV of zeta potential

Dissection Manual for Open Rhinoseptoplasty in a Silicone Nose Model

Open rhinoseptoplasty has been widely performed in the field of otorhinolaryngology. However, from the perspective of beginners, rhinoseptoplasty is a hard-to-learn surgery that involves a relatively steep learning curve. Therefore, practical guidance is essential to enhance the skills needed for excellent surgical outcomes. Here, we provide a step-wise dissection manual using a commercialized silicone nose model designed for rhinoseptoplasty. The contents include general approaches with regard to transcolumellar inverted V incision, flap elevation, osteotomy, septoplasty, modification of the lower lateral cartilage for tip surgery, and dorsal augmentation using silicone implants. In addition, we introduce novel techniques such as dorsal augmentation using a ready-made mold with tissue glue applied to diced cartilage and polycaprolactone mesh for rhinoseptoplasty. The present study also provides photos of individual surgical procedures using a silicone nose model for actual guidance. The authors expect that this manual will help beginning rhinoseptoplasty surgeons improve their confidence

Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses

Standardization of Terminology in Laboratory Medicine II

Standardization of medical terminology is essential in data transmission between health care institutes and in maximizing the benefits of information technology. The purpose of this study was to standardize medical terms for laboratory observations. During the second year of the study, a standard database of concept names for laboratory terms that covered those used in tertiary health care institutes and reference laboratories was developed. The laboratory terms in the Logical Observation Identifier Names and Codes (LOINC) database were adopted and matched with the electronic data interchange (EDI) codes in Korea. A public hearing and a workshop for clinical pathologists were held to collect the opinions of experts. The Korean standard laboratory terminology database containing six axial concept names, components, property, time aspect, system (specimen), scale type, and method type, was established for 29,340 test observations. Short names and mapping tables for EDI codes and UMLS were added. Synonym tables were prepared to help match concept names to common terms used in the fields. We herein described the Korean standard laboratory terminology database for test names, result description terms, and result units encompassing most of the laboratory tests in Korea

Electrothermal soft manipulator enabling safe transport and handling of thin cell/tissue sheets and bioelectronic devices

“Living” cell sheets or bioelectronic chips have great potentials to improve the quality of diagnostics and therapies. However, handling these thin and delicate materials remains a grand challenge because the external force applied for gripping and releasing can easily deform or damage the materials. This study presents a soft manipulator that can manipulate and transport cell/tissue sheets and ultrathin wearable biosensing devices seamlessly by recapitulating how a cephalopod’s suction cup works. The soft manipulator consists of an ultrafast thermo-responsive, microchanneled hydrogel layer with tissue-like softness and an electric heater layer. The electric current to the manipulator drives microchannels of the gel to shrink/expand and results in a pressure change through the microchannels. The manipulator can lift/detach an object within 10 s and can be used repeatedly over 50 times. This soft manipulator would be highly useful for safe and reliable assembly and implantation of therapeutic cell/tissue sheets and biosensing devices