• 제목/요약/키워드: MFS

검색결과 167건 처리시간 0.019초

A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome

  • Park, Min Ji;Lee, Dong Hun;Shin, Young Lim;Hong, Yong Hee
    • Journal of Genetic Medicine
    • /
    • 제13권1호
    • /
    • pp.41-45
    • /
    • 2016
  • Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

Enhanced Production of Itaconic Acid through Development of Transformed Fungal Strains of Aspergillus terreus

  • Shin, Woo-Shik;Park, Boonyoung;Lee, Dohoon;Oh, Min-Kyu;Chun, Gie-Taek;Kim, Sangyong
    • Journal of Microbiology and Biotechnology
    • /
    • 제27권2호
    • /
    • pp.306-315
    • /
    • 2017
  • Metabolic engineering with a high-yielding mutant, A. terreus AN37, was performed to enhance the production of itaconic acid (IA). Reportedly, the gene cluster for IA biosynthesis is composed of four genes: reg (regulator), mtt (mitochondrial transporter), cad (cis-aconitate decarboxylase), and mfs (membrane transporter). By overexpressing each gene of the IA gene cluster in A. terreus AN37 transformed by the restriction enzyme-mediated integration method, several transformants showing high productivity of IA were successfully obtained. One of the AN37/cad transformants could produce a very high amount of IA (75 g/l) in shake-flask cultivations, showing an average of 5% higher IA titer compared with the high-yielding control strain. Notably, in the case of the mfs transformants, a maximal increase of 18.3% in IA production was observed relative to the control strain under the identical fermentation conditions. Meanwhile, the overexpression of reg and mtt genes showed no significant improvements in IA production. In summary, the overexpressed cis-aconitate decarboxylase (CAD) and putative membrane transporter (MFS) appeared to have positive influences on the enhanced IA productivity of the respective transformant. The maximal increases of 13.6~18.3% in IA productivity of the transformed strains should be noted, since the parallel mother strain used in this study is indeed a very high-performance mutant that has been obtained through intensive rational screening programs in our laboratory.

슬래그 원료를 사용해서 제조된 유리섬유의 점탄성 특성 (Visco-Elastic Properties of Glass Fiber Manufactured by Slag Material)

  • 이지선;김선욱;라용호;이영진;임태영;황종희;전대우;김진호
    • 한국전기전자재료학회논문지
    • /
    • 제32권6호
    • /
    • pp.477-482
    • /
    • 2019
  • This study investigated the influence of the viscoelastic property of slag when producing glass fiber, MFS631 with 60% of manganese slag, 30% of steel slag, and 10% of silica stone. To fabricate the MFS631 glass bulk, slag materials were placed in an alumina crucible, melted at $1,550^{\circ}C$ for 2 h, and then annealed at $600^{\circ}C$ for 2 h. It was found that glass is non-crystalline through X-ray diffraction analysis. MFS631 fiber was produced at speed in the range of 100~300 rpm at $1,150^{\circ}C$. The loss modulus (G") and storage modulus (G') of the produced glass fiber were evaluated at high temperatures. G' and G" of MFS631 were greater than $893^{\circ}C$, and the modulus value was 136,860 pa. This is similar to the results of a general E-glass fiber graph. Therefore, it was concluded that its spinnability is similar to that of E-glass fiber; therefore, it can be commercialized.

Shape and anatomical relationship of the mental foramen to the mandibular premolars in an Indian sub-population: a retrospective CBCT analysis

  • Komal Sheth;Kulvinder Singh Banga;Ajinkya M. Pawar;James L. Gutmann;Hyeon-Cheol Kim
    • Restorative Dentistry and Endodontics
    • /
    • 제47권1호
    • /
    • pp.1.1-1.13
    • /
    • 2022
  • Objectives: This study assessed the shape and anatomical relationship of the mental foramen (MF) to mandibular posterior teeth in an Indian sub-population. Materials and Methods: In total, 475 existing cone-beam computed tomography records exhibiting 950 MFs and including the bilateral presence of mandibular premolars and first molars were assessed. Images were evaluated 3-dimensionally to ascertain the position, shape, and anatomical proximity of MFs to mandibular teeth. The position and shape of MFs were measured and calculated. The Pythagorean theorem was used to calculate the distance between the root apex of the mandibular teeth and the MF. Results: MFs exhibited a predominantly round shape (left: 67% and right: 65%) followed by oval (left: 30% and right: 31%) in both males and females and in different age groups. The root apices of mandibular second premolars (left: 71% and right: 62%) were closest to the MF, followed by distal to the first premolars and mesial to the second premolars. The mean vertical distance between the MF and the nearest tooth apex calculated on sagittal sections was 2.20 mm on the right side and 2.32 mm on the left side; no significant difference was found according to sex or age. The distance between the apices of the teeth and the MF was ≥ 4 mm (left; 4.09 ± 1.27 mm and right; 4.01 ± 1.15 mm). Conclusions: These findings highlight the need for clinicians to be aware of the location of the MF in treatment planning and while performing non-surgical and surgical endodontic procedures.

A Regression of Miller Fisher Syndrome using Photic Feedback: Possibility of a New Complementary Therapy

  • Kamei, Tsutomu;Toriumi, Yoshitaka;Kumano, Hiroaki;Yasushi, Mitsuo
    • Journal of Photoscience
    • /
    • 제9권2호
    • /
    • pp.530-533
    • /
    • 2002
  • We present a case of The Miller Fisher Syndrome (MFS), showing a remission during a recently developed noninvasive therapy. Two weeks after an appearance of cough and fever, a 35 years old Japanese male developed diplopia, ataxia and numbness of his fingers and toes. He was diagnosed as MFS, and a fixed dose of prednisolone acetate (60mg/day) was administered for 3 months, but little improvement was observed. In addition to this administration, we tried 20 minutes of Photic Feedback (PFB) treatment daily for 40 days. The PFB system detects brain waves from the subject's forehead, and extracts alpha waves by the band-pass filter with a center frequency set at 10.0Hz. It also simultaneously modulates the augmentation of a red light-emitting diode, corresponding with the amplitudes of the extracted alpha waves. In this treatment, this adjusted photic stimulation was given to the subject's closed eyes, resulting in the effective alpha enhancement by photic driving response. The numbness increased during each of PFB treatment, but the symptoms started to improve gradually after 10 days. Other symptoms disappeared after 40 days. CD20 levels increased with this treatment. This case suggests that the PFB treatment may speed the natural remission of MFS. This treatment may be worth considering in patients who suffer polyneuropathy.

  • PDF

후향적 자료분석을 통한 낙상위험 사정도구의 타당도 비교: 종합병원 입원 환자를 중심으로 (Validation of Fall Risk Assessment Scales among Hospitalized Patients in South Korea using Retrospective Data Analysis)

  • 강영옥;송라윤
    • 성인간호학회지
    • /
    • 제27권1호
    • /
    • pp.29-38
    • /
    • 2015
  • Purpose: The purpose of the study was to validate fall risk assessment scales among hospitalized adult patients in South Korea using the electronic medical records by comparing sensitivity, specificity, positive predictive values, and negative predictive values of Morse Fall Scale (MFS), Bobath Memorial Hospital Fall Risk Assessment Scale (BMFRAS), and Johns Hopkins Hospital Fall Risk Assessment tool (JHFRAT). Methods: A total of 120 patients who experienced fall episodes during their hospitalization from June 2010 to December 2013 was categorized into the fall group. Another 120 patients, who didn't experience fall episodes with age, sex, clinical departments, and the type of wards matched with the fall group, were categorized to the comparison group. Data were analyzed for the comparisons of sensitivity, specificity, positive and negative predictive values, and the area under the curve of the three tools. Results: MFS at a cut-off score of 48 had .806 for ROC curves, 76.7% for sensitivity, 77.5% for specificity, 77.3% for positive predictive value, and 76.9% for negative predictive value, which were the highest values among the three fall assessment scales. Conclusion: The MFS with the highest score and the highest discrimination was evaluated to be suitable and reasonable for predicting falls of inpatients in med-surg units of university hospitals.

적층과 절삭을 복합적으로 수행하는 새로운 개념의 판재 적층식 쾌속 시작 시스템의 개발(II) - 공정계획 시스템 - (Development of New Rapid Prototyping System Performing both Deposition and Machining (II))

  • 허정훈;이건우
    • 대한기계학회논문집A
    • /
    • 제24권9호
    • /
    • pp.2235-2245
    • /
    • 2000
  • The necessity of using rapid prototyping(RP) for short-run manufacturing is continuously driving a development of a cost-effective technique that will produce completely-finished quality parts in a very short time. To meet these demands, the improvements in production speed, accuracy, materials, aid cost are crucial. Thus, a new hybrid-RP system performing both deposition and machining in a station is proposed. For the new hybrid RP process to maintain the same degree of process automation as in currently available processes like SLA or FDNI, a sophisticated process planning system is developed. In the process planner, CAD models(STEP AP203) are partitioned into 3D manufacturable volumes called 'Ueposition feature segment"(DFS) after machining features called "machining feature segmenf'(MFS) are extracted from the initial CAD model. Once MFS and DFS are identified, the process planner arranges them into a chain of processes and automatically generates machining information for each DFS and MFS. The goal of this paper is to present a framework for a process planning system for hybrid RP processes and to outline the geometric algorithms involved in developing such an environment.

종합병원 입원 환자의 낙상 위험 요인 및 낙상 위험도 평가 (Fall Risk Factors and Fall Risk Assessment of Inpatients)

  • 김윤숙;최스미
    • 성인간호학회지
    • /
    • 제25권1호
    • /
    • pp.74-82
    • /
    • 2013
  • Purpose: The purpose of this study was to identify the fall risk factors and to evaluate the effectiveness of the Morse Fall Scale(MFS) as an assessment tool among hospitalized inpatients. Methods: The medical records of a total of 294 patients who admitted to hospital from January 1 to December 31, 2010 were reviewed. One hundred forth seven patients who had experienced fall were matched with 147 patients who have never experienced fall. The fall information was obtained from electronic medical records and fall reports. Results: There were significant differences in visual disturbances, pain, emotional disturbances, sleep disorder, urination problems and elimination disorder at admission between fallers and non-fallers. Patients who had higher MFS scores at admission were more likely to fall as compared to the patients with lower MFS scores. When falls did occur, these occurred within five days following admission, in the patient room, among patients with alert mental status, and among patients who were ambulant with some assistance. Conclusion: The findings of this study support the need of using risk assessment tool for predicting risk for falls. This finding can be used as a useful resource to develop nursing intervention strategies for fall prevention at the hospital.

Speaker Verification with the Constraint of Limited Data

  • Kumari, Thyamagondlu Renukamurthy Jayanthi;Jayanna, Haradagere Siddaramaiah
    • Journal of Information Processing Systems
    • /
    • 제14권4호
    • /
    • pp.807-823
    • /
    • 2018
  • Speaker verification system performance depends on the utterance of each speaker. To verify the speaker, important information has to be captured from the utterance. Nowadays under the constraints of limited data, speaker verification has become a challenging task. The testing and training data are in terms of few seconds in limited data. The feature vectors extracted from single frame size and rate (SFSR) analysis is not sufficient for training and testing speakers in speaker verification. This leads to poor speaker modeling during training and may not provide good decision during testing. The problem is to be resolved by increasing feature vectors of training and testing data to the same duration. For that we are using multiple frame size (MFS), multiple frame rate (MFR), and multiple frame size and rate (MFSR) analysis techniques for speaker verification under limited data condition. These analysis techniques relatively extract more feature vector during training and testing and develop improved modeling and testing for limited data. To demonstrate this we have used mel-frequency cepstral coefficients (MFCC) and linear prediction cepstral coefficients (LPCC) as feature. Gaussian mixture model (GMM) and GMM-universal background model (GMM-UBM) are used for modeling the speaker. The database used is NIST-2003. The experimental results indicate that, improved performance of MFS, MFR, and MFSR analysis radically better compared with SFSR analysis. The experimental results show that LPCC based MFSR analysis perform better compared to other analysis techniques and feature extraction techniques.

Miller Fisher 증후군1예에서 일련의 신경생리학적 소견 (Serial Electrophysiological Studies in Miller Fisher Syndrome)

  • 전동철;박춘강;이규용;이영주;김주한
    • Annals of Clinical Neurophysiology
    • /
    • 제3권2호
    • /
    • pp.156-159
    • /
    • 2001
  • Miller Fisher syndrome(MFS) has been the focus of conflicting opinions regarding the peripheral versus the central nature of the site of major neural injury. We present our electrophysiological findings in one case of MFS to help clarify the pattern of peripheral nerve injury in this syndrome. A 45-year-old man visited our hospital due to sudden diplopia. Initial examination revealed internuclear opthalmoplegia. The next day, his symptoms rapidly aggravated to complete external ophthalmoplegia, ataxia, and areflexia with hand and foot numbness. Serial electrophysiological studies were performed. The results of brainstem evoked potential(BAEP) and blink reflex were normal in the serial studies. Motor and sensory nerve conduction study(NCS) were normal findings in second hospital day, but ulnar sensory nerve shows no sensory nerve action potential(SNAP) and sural sensory conduction velocity was delayed in 7th hospital day. Our patient's clinical presentation began to improve on 15th hospital day, and his electrophysiologic study showed improvement on 29th hospital day. We believe that all the manifestations of MFS can be explained by the involvement of peripheral nerves without brainstem or cerebellar lesion with the serial electrophysiological studies.

  • PDF