• Title/Summary/Keyword: Molecular Characteristics

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Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

  • Seo, Go Hun;Kim, Ja Hye;Cho, Ja Hyang;Kim, Gu-Hwan;Seo, Eul-Ju;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • v.59 no.1
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    • pp.16-23
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    • 2016
  • Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

Microvascular Decompression for Familial Hemifacial Spasm : Single Institute Experience

  • Park, Jae-Han;Jo, Kyung-Il;Lee, Hyun-Seok;Lee, Jung-A;Park, Kwan
    • Journal of Korean Neurosurgical Society
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    • v.53 no.1
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    • pp.1-5
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    • 2013
  • Objective : The purpose of this study was to evaluate the characteristics and surgical outcomes of familial hemifacial spasm (HFS) and to discuss the role of genetic susceptibility. Methods : Between 2001 and 2011, 20 familial HFS patients with ten different pedigrees visited our hospital. The data from comprehensive evaluation of these patients, including clinical, radiological and electrophysiological data and surgical outcomes were reviewed to characterize familial HFS and to compare the characteristics between familial HFS and sporadic HFS. Results : According to the family tree, the inheritance pattern was difficult to define clearly using these data. Radiologic findings suggested that the vertebral artery (VA) was a more frequent offender in familial HFS than in sporadic cases (35.0% vs. 10.0%, p<0.001). Chi-square test showed that there were no correlation between VA tortuosity and underlying morbidity such as diabetes or hypertension (p=0.391). Eighteen out of 19 patients who underwent microvascular decompression showed no residual spasm. Other features of familial HFS overlap with sporadic cases. These findings suggest that certain genetic susceptibilities rather than hypertension or diabetes may influence vascular tortuosity and HFS development. Conclusion : In this study, familial HFS seems not so different from sporadic cases. Authors thought familial HFS could have heterogeneous etiology. Further study of familial HFS including clinical, anatomic, genetic, and molecular information may help identify a gene or trait that can provide insight into the mechanisms of sporadic and familial HFS.

Crosslinking Density Control and Its Carbonization Characteristics of Spherical Phenolic Resin Particles by Using Cresol as Comonomer (구형 페놀수지 입자의 크레졸을 이용한 가교조절 및 탄화물성 변화)

  • Hahn, Dongseok;Kim, Hongkyeong
    • Korean Chemical Engineering Research
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    • v.58 no.4
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    • pp.618-623
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    • 2020
  • Spherical phenolic resin beads were synthesized by suspension polymerization at 98 ℃ from phenol, ortho-cresol, formaldehyde, with triethylamine as a basic catalyst, and spherical phenol-cresol copolymer resin beads with relatively low crosslinking density as well. Phenol reacts with formaldehyde at two ortho- and one para- positions to form a crosslinked structure, but ortho-cresol instead of phenol reduces the crosslinking density during copolymerization due to the methyl group at a ortho- position. As a result, spherical phenol-cresol copolymer beads showed more shrinkage with decreasing apparent density compared to the spherical phenol beads when carbonized at 700 ℃ under nitrogen. As the molecular weight of the cresol oligomer increases, the pore radius of the carbonized copolymer beads decreases, which is consistent with the density and shrinkage results. It was confirmed that the characteristics such as density decrease, shrinkage, yield and so on during carbonization can be controlled by controlling the degree of crosslinking of the spherical phenolic resin particles with cresol.

Root Rot of Japanese Angelica Caused by Phytophthora cactorum in Nursery and Mycological Characteristics of the Isolates (두릅나무 묘목생산포의 역병 발생 및 분리균의 균학적 특성)

  • Lee, Sang-Hyun;Lee, Jae-Pil;Kim, Kyung-Hee;Shin, Hyeon-Dong
    • The Korean Journal of Mycology
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    • v.33 no.2
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    • pp.98-102
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    • 2005
  • In 2003 to 2005, the root rot of Japanese angelica (Aralia elata) was surveyed in nursery beds of Korea, where incidence of the disease often reached up to 100%. Three isolates were obtained from the infected roots, and identified as Phytophthora cactorum on the basis of cultural, morphological characteristics and molecular analysis. The isolates were characterized by having markedly papillate and broadly ovoid deciduous sporangia. The optimum temperature for mycelium growth was at $25^{\circ}C$ on V8 juice agar. Pathogenicity of the isolates was confirmed by soil mixture inoculation. Approximately 900 bp of ITS rDNA was amplified from all 3 isolates and band pattern of restriction fragments observed by Alu I, Msp I, and Taq I digestion also supported the result of the morphological identification when compared with PhytID database.

First Report of Red Thread of Kentucky Bluegrass (Poa pratensis L.) Caused by Laetisaria fuciformis on Golf Course in Korea (국내 골프코스의 켄터키블루그래스에 Laetisaria fuciformis에 의한 붉은뿔마름병(Red Thread) 발생보고)

  • Lee, Jung Han;Kim, Jeong Ho;Shim, Gyu Yul;Kwak, Youn-Sig
    • Weed & Turfgrass Science
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    • v.7 no.3
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    • pp.269-274
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    • 2018
  • In the middle of May 2018, typical red thread disease symptoms were observed on Kentucky bluegrass (Poa pratensis L.) on a golf course, which locates at Yangsan, Gyeongnam province in Korea. Irregular-shaped patched symptoms were observed in fairway of golf course. The foliar symptom was dried out and faded to straw color and tip of the grass leaves were tangled like thread. Early morning, infected and tangled leaves were covered with the pinkish gelatinous antler-like structure (sclerotinia) as a typical red thread disease symptom. Causal fungal pathogens were isolated from the symptom in Kentucky bluegrass. The fungal culture characteristic on potato dextrose agar color of colony was pale pink and conjugated hyphae, sclerotium of irregular shape was pale pink and 3~5mm diameter in size. The pathogen was identified as Laetisaria fuciformis based on morphological and culture characteristics as well as molecular characteristics. Pathogenicity test was verified on the Kentucky bluegrass by Koch's postulates. This is the first report of red thread disease occurrence in Kentucky bluegrass by L. fuciformis in Korea.

Characteristics of Wood Tar Produced as Byproduct from Two Types of The Kiln in The Manufacture of Oak Charcoal

  • Yang, Bong Suk;Yang, Jiwook;Kim, Dae-Young;Kim, Jin-Kyu;Hwang, Won-Jung;Kwon, Gu-Joong
    • Journal of the Korean Wood Science and Technology
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    • v.45 no.6
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    • pp.772-786
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    • 2017
  • This study investigated the characteristics of wood tar, produced as a byproduct during the production of charcoal using oak wood by the modified traditional kiln and mechanical steel kiln. The wood tar was analyzed with a number of techniques, including Py-GC/MS, NMR, MALDI-TOF, FT-IR, TG and DSC. The Py-GC/MS analysis indicated that modified traditional kiln generated a higher hydrocarbon ratio in the wood tar than that of mechanical steel kiln. On the other hand, mechanical steel kiln resulted in a higher proportion of phenolic and aromatic hydrocarbon components than that of modified traditional kiln. Those results were also confirmed by NMR analysis. The MALDI-TOF analysis suggested that the wood tar produced in the mechanical steel kiln had a slightly higher molecular weight than the wood tar produced in the modified traditional kiln. In addition, the FT-IR analysis showed characteristic peak of symmetrical stretching vibration of $CH_3$ from the modified traditional kiln while characteristic peaks of the C-C and C-O stretching vibration were observed from the mechanical steel kiln. Moreover, TG and DSC analysis suggested that the mechanical steel kiln is more thermally stable than that of modified traditional kiln. Those findings clearly showed that the method of making charcoal greatly affects the properties of wood tar.

The optical characteristics of $Al_{0.25}Ga_{0.75}As/In_{0.15}Ga_{0.85}As$/GaAspseudomorphic high electron mobility transistor structure grown by molecular beam epitaxy (분자선 에피탁시법으로 성장된 $Al_{0.25}Ga_{0.75}As/In_{0.15}Ga_{0.85}As$/GaAs 슈우도형 고 전자 이동도 트랜지스터 구조의 광학적 특성)

  • 이동율;이철욱;김기홍;김종수;김동렬;배인호;전헌무;김인수
    • Journal of the Korean Vacuum Society
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    • v.9 no.2
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    • pp.130-135
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    • 2000
  • We have analyzed characteristics for the structure of $Al_{0.25}/Ga_{0.75}/As/In_{0.15}/Ga_{0.85}$/AS/GaAS pseudomorphic high electron mobility transistor (PHEMT) by photoluminescence (PL) and photoreflectance (PR) measurements. By the PL measurement at 10 K, we observed el-hl transition peak at 1.322 eV and e2-hl transition peak at 1.397 eV in the InGaAs quantum well. We calculated value of 23 meV, the difference between the first energy level and the second energy level of a valence band by dependence of temperatures. Also, (e2-h2) transition signal was observed at 300 K by PR measurement. From the PR measurement, we recognized that the transition was dominated the second energy level of conduction band than the first energy level of conduction band due to band filling. The other hand, PL signal of the first energy level of conduction band was dominated because of the electron screening effect.

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Molecular Characteristics of Human Noroviruses Genogroup I and Genogroup II Detected in Acute Gastroenteritis Patients in Seoul (급성위장관염 환자에서 검출된 노로 바이러스 Genogroup-I과 Genogroup-II의 분자생물학적 특성)

  • Ham, Hee-Jin;Oh, Se-Ah;Kim, Chang-Kyu;Jang, Jung-Im;Jo, Suk-Ju;Choi, Sung-Min
    • Journal of Environmental Health Sciences
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    • v.38 no.1
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    • pp.57-65
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    • 2012
  • Objectives: For our survey of the incidence of norovirus infections and the genogroup distribution of norovirus in Seoul, Republic of Korea, we evaluated through regular surveillance the prevalence of norovirus infections in patients with acute gastroenteritis occurring in Seoul from January 2007 to July 2011. Methods: For norovirus detection, we conducted epidemiological analyses on the basis of the junction of ORF1 and ORF2 (approximately 314 bp). 11,202 fecal specimens were collected from patients in Seoul with acute gastroenteritis between January 2007 and July 2011 and then tested for the presence of NoV via reverse transcription (RT) - polymerase chain reaction (PCR). Results: 16.6% (1,861/11,202) of the fecal specimens were determined to be positive for noroviruses. The incidences of norovirus infection in Seoul in the case of acute gastroenteritis with regular surveillance were 28.0% in 2007, 14.6% in 2008, 9.1% in 2009, 14.1% in 2010, and 12.9% in 2011, which shows that noroviruses constituted a major causative agent of acute gastroenteritis. Also, the incidence of noroviral infection in patients with acute gastroenteritis increased after the large-scale new influenza in 2009. Conclusions: The genetic characteristics of norovirus and the epidemiologic patterns of a viral pathogen in acute gastroenteritis patients may provide potentially effective data for epidemiological studies in Seoul, Korea.

Quality Characteristics of Gamma-Irradiated Pork (감마선 조사 돈육의 품질특성)

  • 곽희진;이순옥;이명호
    • Journal of Applied Tourism Food and Beverage Management and Research
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    • v.13 no.2
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    • pp.149-158
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    • 2002
  • This research was conducted to investigate changes in quality characteristics of gamma-irradiated porks during storage at different temperature and periods. In The proximate composition of pork was not significantly changed by irradiation dose and storage period. The SDS electrophoresis patterns were not significantly different between nonirradiated and irradiated samples. All samples stored in at 5$^{\circ}C$ showed a prominent breakdown of molecular weights ranging from 97,000 to 116,000 Daltons after 8 weeks' storage. In heme pigment(myoglobin) content, metmyoglobin content of chicken stored at 5$^{\circ}C$ was not affected by gamma irradiation but slightly increased with the increase in storage period. All samples stored at -2$0^{\circ}C$ were not different in heme pigment content between nonirradiated and irradiated samples and slightly decreased as the freezing storage period increased. About textural property, hardness of all samples appears to be increased slightly by gamma irradiation. However, the extent of increase was so little that it could be ignored.

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Comparison of Surface Passivation Layers on InGaN/GaN MQW LEDs

  • Yang, Hyuck-Soo;Han, Sang-Youn;Hlad, M.;Gila, B.P.;Baik, K.H.;Pearton, S.J.;Jang, Soo-Hwan;Kang, B.S.;Ren, F.
    • JSTS:Journal of Semiconductor Technology and Science
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    • v.5 no.2
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    • pp.131-135
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    • 2005
  • The effect of different surface passivation films on blue or green (465-505 nm) InGaN/GaN multi-quantum well light-emitting diodes (LEDs) die were examined. $SiO_2$ or $SiN_x$ deposited by plasma enhanced chemical vapor deposition, or $Sc_2O_3$ or MgO deposited by rf plasma enhanced molecular beam epitaxy all show excellent passivation qualities. The forward current-voltage (I-V) characteristics were all independent of the passivation film used, even though the MBE-deposited films have lower interface state densities ($3-5{\times}10^{12}\;eV^{-1}\;cm^{-2}$) compared to the PECVD films (${\sim}10^{12}\;eV^{-1}\;cm^{-2}$), The reverse I-V characteristics showed more variation, hut there was no systematic difference for any of the passivation films, The results suggest that simple PECVD processes are effective for providing robust surface protection for InGaN/GaN LEDs.