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A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy

  • Naseer, Muhammad Imran;Alwasiyah, Mohammad Khalid;Abdulkareem, Angham Abdulrahman;Bajammal, Rayan Abdullah;Trujillo, Carlos;Abu-Elmagd, Muhammad;Jafri, Mohammad Alam;Chaudhary, Adeel G.;Al-Qahtani, Mohammad H.
    • Genes and Genomics
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    • v.40 no.11
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    • pp.1149-1155
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    • 2018
  • Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

Effect of non-thermal plasma on the shear bond strength of resin cements to Polyetherketoneketone (PEKK)

  • Labriaga, Wilmart;Song, So-Yeon;Park, Jin-Hong;Ryu, Jae-Jun;Lee, Jeong-Yol;Shin, Sang-Wan
    • The Journal of Advanced Prosthodontics
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    • v.10 no.6
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    • pp.408-414
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    • 2018
  • PURPOSE. This study aimed to assess the effect of non-thermal plasma on the shear bond strength of resin cements to polyetherketoneketone (PEKK) in comparison to other surface treatment methods. MATERIALS AND METHODS. Eighty PEKK discs were subjected to different surface treatments: (1) Untreated (UT); (2) Non-thermal plasma (NTP); (3) Sandblasting with $50{\mu}m$ $Al_2O_3$ particles (SB); and (4) Sandblasting + Non-thermal plasma (SB+NTP). After each surface treatment, the contact angle was measured. Surface conditioning with Visio.Link was applied in all groups after pre-treatment. RelyX Unicem resin cement was bonded onto the PEKK specimens. After fabrication of the specimens, half of each group (n=10) was initially tested, while the other half was subjected to thermocycling ($5^{\circ}C$ to $55^{\circ}C$ at 10,000 cycles). Shear bond strength (SBS) testing was performed using a universal testing machine, and failure modes were assessed using stereomicroscopy. The SBS results were analyzed statistically using one-way ANOVA followed by Tukey's post hoc test. Independent t-test was used to examine the effect of thermocycling (P<.05). RESULTS. The highest SBS values with or without thermocycling were observed with PEKK specimens that were treated with SB+NTP followed by the SB group. The lowest SBS results were observed in the UT groups. CONCLUSION. The shear bond strength between PEKK and resin cements was improved using non-thermal plasma treatment in combination with sandblasting.

A Clinical Analysis of Hyperhidrosis Patients in Korea: A Single Center, Retrospective Study of 5 Years (다한증 환자의 사상의학적 특성에 관한 연구)

  • Oh, Hyunjoo;Park, Minyoung;Jeon, Hyeonjin;Hwang, Minwoo
    • Journal of Sasang Constitutional Medicine
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    • v.30 no.4
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    • pp.33-52
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    • 2018
  • Objectives The purpose of this study was to analyze the clinical characteristics of patients with hyperhidrosis who visited a Korean medicine hospital, and provide information on treated hyperhidrosis, based on Sasang Constitutional medicine. Methods A retrospective review was made of the electronic medical record (EMR) charts for 157 Korean patients with hyperhidrosis (90 male, 67 female), who first visited hospital from January 1, 2013 to December 31, 2017. The following information was collected: sex, age, height, weight, body mass index (BMI) and clinical data (diagnosis, area of onset, duration of illness, aggravating factors, medication, healing process, et al). Results There were many patients with hyperhidrosis, in the other of So-Yang type (57.3%), Tae-Eum type (35.0%) and So-Eum type (7.6%). The proportion of male was higher than female. The most common area of hyperhidrosis was hands and feet (44.0%), followed by generalized whole body (27.4%) and head and face (25.5%). The cure rate of hyperhidrosis was 32.2%, and effectiveness rate of that was 72.7%. In individual patients, the better the usual health condition expressed by original symptoms, the higher the possibility of treatment success, with shortened duration of treatment and reduced total drug dose. The most frequent treatment modality in patients was that consistently improved, and this duration of treatment was statistically significantly shorter than that experienced worsening of excessive sweating during treatment period (p<0.001). Conclusions This study provides some original information on the Korean patients with hyperhidrosis, and suggests the suitability of Sasang Constitutional medicine as treatment methods for hyperhidrosis.

The Geometric Albedo of (4179) Toutatis

  • Bach, Yoonsoo P.;Ishiguro, Masateru;Jin, Sunho;Yang, Hongu;Moon, Hong-Kyu;Choi, Young-Jun;JeongAhn, Youngmin;Kim, Myung-Jin;Kwak, Sungwon
    • The Bulletin of The Korean Astronomical Society
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    • v.43 no.2
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    • pp.44.4-45
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    • 2018
  • (4179) Toutatis (Toutatis hereafter) is one of the Near-Earth Asteroids which has been studied most rigorously not only via ground-based photometric, spectroscopic, polarimetric, and radar observations, but also via the in-situ observation by the Chinese Chang'e-2 spacecraft. However, one of the most fundamental physical properties, the geometric albedo, is less determined. In order to derive the reliable geometric albedo and further study the physical condition on the surface, we made photometric observations of Toutatis near the opposition (i.e., the opposite direction from the Sun). We thus observed it for four days on 2018 April 7-13 using three 1.6-m telescopes, which consist of the Korean Microlensing Telescope Network (KMTNet). Since the asteroid has a long rotational period (5.38 and 7.40 days from Chang'e-2, Zhao et al., 2015), the continuous observations with KMTNet matches the purpose of our photometric study of the asteroid. The observed data cover the phase angle (Sun-asteroid-observer's angle) of 0.65-2.79 degree. As a result, we found that the observed data exhibited the magnitude changes with an amplitude of ~0.8 mag. We calculated the time-variable geometrical cross-section using the radar shape model (Hudson & Ostro 1995), and corrected the effect from the observed data to derive the geometric albedo. In this presentation, we will present our photometric results. In addition, we will discuss about the regolith particles size together with the polarimetric properties based on the laboratory measurements of albedo-polarization maximum.

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A Study on Derivation of Contact Heat Transfer Coefficient Between Die and Aluminum Billet in High Temperature Compression Process (고온 압축 공정에서 금형과 알루미늄 빌렛의 접촉 열전달 계수 도출에 관한 연구)

  • Jeon, H.W.;Suh, C.H.;Oh, S.G.;Kwon, T.H.;Kang, G.P.;Yook, H.S.
    • Transactions of Materials Processing
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    • v.30 no.3
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    • pp.142-148
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    • 2021
  • In hot forging analysis, the interfacial heat transfer coefficient (IHTC) is a very important factor defining the heat flow between the die and the material. In particular, in the hot forging analysis of aluminum 6xxx series alloy, which are used in automobile parts, differences in load and microstructure occur due to changes in surface temperature according to the IHTC. This IHTC is not a constant value but changes depends on pressure. This study derived the IHTC under low load using aluminum 6082 alloy. An experiment was performed by fabricating a compression die, and a heat transfer analysis was performed based on the experimental data. The heat transfer analysis used DEFORM-2D, a commercial finite element analysis program. To derive the IHTC, heat transfer analysis was performed for the IHTC in the range of 10 to 50 kW/m2℃ at intervals of 10kW/m2℃. The heat transfer analysis results according to the IHTC and the actual experimental values were compared to derive the IHTC of the aluminum 6082 alloy under low load.

A comprehensive review of the Fenton-based approaches focusing on landfill leachate treatment

  • Hussain, Mujtaba;Mahtab, Mohd Salim;Farooqi, Izharul Haq
    • Advances in environmental research
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    • v.10 no.1
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    • pp.59-86
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    • 2021
  • Landfilling is the most commonly adopted method for a large quantity of waste disposal. But, the main concern related to landfills is the generation of leachate. The leachate is high strength wastewater that is usually characterized by the presence of high molecular recalcitrant organics. Several conventional methods are adopted for leachate treatment. However, these methods are only suitable for young leachate, having high biodegradability and low toxicity levels. The mature and stabilized leachate needs advanced technologies for its effective treatment. Advanced oxidation processes (AOPs) are very suitable for such complex wastewater treatment as reported in the literature. After going through the literature survey, it can be concluded that Fenton-based approaches are effective for the treatment of various high/low strength wastewaters treatment. The applications of the Fenton-based approaches are widely adopted and well recognized due to their simplicity, cost-effectiveness, and reliability for the reduction of high chemical oxygen demand (COD) as reported in several studies. Besides, the process is relatively economical due to fewer chemical, non-sophisticated instruments, and low energy requirements. In this review, the conventional and advanced Fenton's approaches are explained with their detailed reaction mechanisms and applications for landfill leachate treatment. The effect of influencing factors like pH, the dosage of chemicals, nature of reaction matrix, and reagent ratio on the treatment efficiencies are also emphasized. Furthermore, the discussion regarding the reduction of chemical oxygen demand (COD) and color, increase in biodegradability, removal of humic acids from leachate, combined processes, and the pre/post-treatment options are highlighted. The scope of future studies is summarized to attain sustainable solutions for restrictions associated with these methods for effective leachate treatment.

Do partial glenohumeral degenerative changes in patients undergoing arthroscopic rotator cuff repair influence clinical outcomes?

  • Al-Tawil, Karam;Casey, Joseph;Thayaparan, Prashant;Tavakkolizadeh, Adel;Sinha, Joydeep;Colegate-Stone, Toby
    • Clinics in Shoulder and Elbow
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    • v.25 no.2
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    • pp.112-120
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    • 2022
  • Background: The prognostic factors for patients with full-thickness rotator cuff tears (RCTs) include tear size, muscle atrophy and fatty infiltration. However, the influence of early coexisting degenerative changes on RCT outcomes is unappreciated. The purpose of this study was to calculate the impact that pre-existing partial glenohumeral cartilaginous changes have on patients undergoing arthroscopic RCT repair. Methods: A study of 54 patients undergoing arthroscopic RCT repair was undertaken. The presence of co-existing patches of glenohumeral degenerative cartilaginous changes and RCT size was recorded at surgery. Pre- and postoperative outcomes were assessed using traditional (Oxford Shoulder Score [OSS], 5-level EuroQol-5D [EQ-5D-5L] questionnaire and EuroQol visual analog scale [EQ-VAS]) and patient-centric re-formatted prisms. Outcomes were assessed as an entire dataset, and sub-group analysis was performed according to the grade of co-existing arthritis and tear size. Results: Significant improvements (p<0.05) in clinical outcomes were recognized when assessed using either the traditional or reformatted prisms (average % improvements in OSS, EQ-5D-5L and EQ-VAS were 47%, 33% and 43%, respectively; average improvements in pain, function, and psychological well-being were 48%, 33% and, 29%, respectively). Positive gain was noted in all sub-groups of arthritic grading and tear size. Conclusions: Good clinical outcomes can be achieved following RCT repair even in the presence of local partial degenerative cartilage changes and advancing tear size. These benefits are patient-centered but require RCT repairability.

Effect of rare earth dopants on the radiation shielding properties of barium tellurite glasses

  • Vani, P.;Vinitha, G.;Sayyed, M.I.;AlShammari, Maha M.;Manikandan, N.
    • Nuclear Engineering and Technology
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    • v.53 no.12
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    • pp.4106-4113
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    • 2021
  • Rare earth doped barium tellurite glasses were synthesised and explored for their radiation shielding applications. All the samples showed good thermal stability with values varying between 101 ℃ and 135 ℃ based on dopants. Structural properties showed the dominance of matrix elements compared to rare earth dopants in forming the bridging and non-bridging atoms in the network. Bandgap values varied between 3.30 and 4.05 eV which was found to be monotonic with respective rare earth dopants indicating their modification effect in the network. Various radiation shielding parameters like linear attenuation coefficient, mean free path and half value layer were calculated and each showed the effect of doping. For all samples, LAC values decreased with increase in energy and is attributed to photoelectric mechanism. Thulium doped glasses showed the highest value of 1.18 cm-1 at 0.245 MeV for 2 mol.% doping, which decreased in the order of erbium, holmium and the base barium tellurite glass, while half value layer and mean free paths showed an opposite trend with least value for 2 mol.% thulium indicating that thulium doped samples are better attenuators compared to undoped and other rare earth doped samples. Studies indicate an increased level of thulium doping in barium tellurite glasses can lead to efficient shielding materials for high energy radiation.

Fabrication of IBAD-MgO template by continuous reel-to-reel process (연속 reel-to-reel 공정을 이용한 IBAD-MgO template 제조)

  • Ko, K.P.;Ha, H.S.;Kim, H.K.;Yu, K.K.;Ko, R.K.;Moon, S.H.;Oh, S.S.;Yoo, S.I.
    • Progress in Superconductivity and Cryogenics
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    • v.9 no.1
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    • pp.18-21
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    • 2007
  • Highly textured MgO template by ion-beam-assisted deposition(IBAD) was successfully fabricated using a continuous reel-to-reel(R2R) mode. To enlarge the deposition area, the previous IBAD system was modified into the system with 14-pass and five heating zone. Every processing step was carried out using this multi-turn IBAD system. The overall process consists of R2R electropolishing of a hastelloy C276 tape, deposition of $Al_2O_3$ diffusion barrier, $Y_2O_3$ seed layer, IBAD-MgO and homoepi-MgO layer. The IBAD-MgO templates were fabricated using the IBAD system with 216 cm-length deposition zone and 32 cm diameter ion source. The texture of MgO films developed during the IBAD process was monitored by in-situ reflection high energy electron diffraction(RHEED) to optimize the IBAD process. Recently, 100 m long IBAD-MgO tape with in-plane texture of $\Delta{\phi}<10^{\circ}$ was successfully fabricated using the modified IBAD system. In this report, the detailed deposition condition of getting a long length IBAD-MgO template with a good epitaxy is described.

Three-dimensional evaluation of the mandibular condyle in adults with various skeletal patterns

  • Ahmed Maher Mohsen;Junjie Ye;Akram Al-Nasri;Catherine Chu;Wei-Bing Zhang;Lin-Wang
    • The korean journal of orthodontics
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    • v.53 no.2
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    • pp.67-76
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    • 2023
  • Objective: Morphometric and morphological evaluation of the mandibular condyle in adults and to identify its correlation with skeletal malocclusion patterns. Methods: Cone-beam computed tomography scans of 135 adult patients were used in this study and classified into groups according to four criteria: (1) sex (male and female); (2) sagittal skeletal discrepancy (Class I, Class II, and Class III); (3) vertical skeletal discrepancy (hyperdivergent, normodivergent, and hypodivergent); and age (group 1 ≤ 20 years, 21 ≤ group 2 < 30, and group 3 ≥ 30 years). The morphometrical variables were mandibular condyle height and width, and the morphological variable was the mandibular condyle shape in coronal and sagittal sections. Three-dimensional standard tessellation language files were created using itk-snap (open-source software), and measurements were performed using Meshmixer (open-source software). Results: The mandibular condyle height was significantly greater (p < 0.05) in patients with class III malocclusion than in those with class I or II malocclusion; the mandibular condyle width was not significantly different among different sexes, age groups, and sagittal and vertical malocclusions. There were no statistical associations between various mandibular condyle shapes and the sexes, age groups, and skeletal malocclusions. Conclusions: The condylar height was greatest in patients with class III malocclusion. The condylar height and width were greater among males than in females. The mandibular condyle shapes observed in sagittal and coronal sections did not affect the skeletal malocclusion patterns.