• Title/Summary/Keyword: Clinical laboratory data

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Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

  • Cho, Anna;Kim, Soo Yeon;Lee, Jin Sook;Lim, Byung Chan;Kim, Hunmin;Hwang, Hee;Chae, Jong-Hee
    • Journal of Genetic Medicine
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    • v.17 no.2
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    • pp.73-78
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    • 2020
  • Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

Efficiency of occlusal and interproximal adjustments in CAD-CAM manufactured single implant crowns - cast-free vs 3D printed cast-based

  • Graf, Tobias;Guth, Jan-Frederik;Diegritz, Christian;Liebermann, Anja;Schweiger, Josef;Schubert, Oliver
    • The Journal of Advanced Prosthodontics
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    • v.13 no.6
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    • pp.351-360
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    • 2021
  • PURPOSE. The aim of this study was to evaluate the efficiency of occlusal and interproximal adjustments of single implant crowns (SIC), comparing a digital cast-free approach (CF) and a protocol using 3D printed casts (PC). MATERIALS AND METHODS. A titanium implant was inserted at position of lower right first molar in a typodont. The implant position was scanned using an intraoral scanner and SICs were fabricated accordingly. Ten crowns (CF; n = 10) were subject to a digital cast-free workflow without any labside occlusal and interproximal modifications. Ten other identical crowns (PC) were adjusted to 3D printed casts before delivery. All crowns were then adapted to the testing model, simulating chair-side adjustments during clinical placement. Adjustment time, quantity of adjustments, and contact relationship were assessed. Data were analyzed using SPSS software (P < .05). RESULTS. Median and interquartile range (IQR) of clinical adjustment time was 02:44 (IQR 00:45) minutes in group CF and 01:46 (IQR 00:21) minutes in group PC. Laboratory and clinical adjustment time in group PC was 04:25 (IQR 00:59) minutes in total. Mean and standard deviation (±SD) of root mean squared error (RMSE) of quantity of clinical adjustments was 45 ± 7 ㎛ in group CF and 34 ± 6 ㎛ in group PC. RMSE of total adjustments was 61 ± 11 ㎛ in group PC. Quality of occlusal contacts was better in group CF. CONCLUSION. Time effort for clinical adjustments was higher in the cast-free protocol, whereas quantity of modifications was lower, and the occlusal contact relationship was found more favourable.

HLA-B27 DNA Typing using Group Specific Polymerase Chain Reaction (중합효소연쇄반응을 이용한 HLA-B27 유전자분석)

  • Kyung Ok Lee;Sung Hoi Hong;Moom Ju Oh;Kyung In Kim;Min Jung Kim
    • Biomedical Science Letters
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    • v.2 no.2
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    • pp.223-229
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    • 1996
  • HLA-B27 gene, one of the HLA-class I molecule, is strongly associated with ankylosing spondylitis. It has been most frequently used as a disease-correlated HLA gene by clinicians. In most laboratories, conventional HLA-B27 typing is still performed by cell cytotoxicity tests or fluorescence serology with specific antibodies. In this study, DNA typing method for HLA-B27 was developed by using group specific Polymerase Chain Reaction (PCR). Four HLA-B27 cell lines (HOM-2, JESTHOM, WT24 and BTB) and fifty six B27 Korean individuals defined by serology were used. The results of control cell and B-27 positive individual samples were correlated well with the data which was performed by serological method. All of B27 positive PCR products gave positive signals on Southern blot hybridization with B27 specific probe. This study shows that the HLA-B27 DNA typing is a relatively simple, fast and practical tool for the determination of the HLA-B27 gene in routine clinical laboratory work.

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Predictive Value for Vesicoureteral Reflux in Children with Urinary Tract Infection (요로감염 환아에서 방광요관 역류를 예측할 수 있는 인자에 대한 연구)

  • Lee, Seung-Hyun;Noh, Sung-Hoon;Oh, Jeung-Eun;Kim, Min-Sun;Lee, Dae-Yeol
    • Childhood Kidney Diseases
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    • v.12 no.1
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    • pp.62-69
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    • 2008
  • Purpose: The most concerning issue in children with urinary tract infection(UTI) is the probability of underlying genitourinary anomalies and vesicoureteral reflux (VUR), which is frequently associated with renal scarring and eventually end-stage renal disease. Therefore, voiding cystourethrography(VCUG) is usually recommended at the earliest convenient time for children with UTI. However, VCUG is an invasive procedure that requires catheterization and exposure to X-ray. In this study, we aimed to determine the predictability of clinical, laboratory and imaging parameters for VUR in children with UTI. Methods: Data of children with bacteriologically proven UTI who underwent VCUG were evaluated retrospectively for clinical(age, gender, fever), laboratory(leukocytosis, ESR, CRP, pyuria, blood urea nitrogen, serum creatinine) and imaging(renal ultrasound and DMSA renal scan) findings. First, children with UTI were divided into two groups according to the presence of VUR as non-VUR group and with VUR group, and clinical, laboratory variables were compared between these groups. Second, patients who had VUR were reclassified as low-grade VUR(grade I-II) group and high-grade(grade III-V) VUR group according to grading of VUR, and clinical, laboratory and imaging variables were compared between these groups. Results: Among 410 children with UTI, 137 had VUR and 78 high-grade VUR. Fever, leukocytosis, ESR, CRP, pyuria were associated with VUR. In addition, abnormal findings of ultrasonography and DMSA renal scan were closely related to VUR. However, these clinical and laboratory variable in patients with high grade VUR were not different significantly, compared to those with low-grade VUR group. Conclusion: Fever, leukocytosis, ESR, CRP seems to be potentially useful predictors of VUR in pediatric patients with UTI. In addition, renal ultrasonography and DMSA renal scan findings supported the presence of VUR. Further study of these findings could limit unnecessary VCUG in patients with UTI.

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Development of Automatic Data Transmitting System of Arterial Blood Gas Results via Local Area Network( LAN) (LAN을 이용한 혈액가스 검사결과 전송시스템)

  • 김남현;김원기
    • Journal of Biomedical Engineering Research
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    • v.14 no.4
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    • pp.327-332
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    • 1993
  • Automatic transmission of data from the blood analyzer to the request site is one of the most important part in hospital computerization. We have developed a system that transmits data from the arterial blood gas analyzer to the request site automatically In this system HOST computer, FILE server,'LAN(Local Area Network) , 3270 Emulator and bfulti-port card are integrated with 3 blood gas analyzers(NOVA Inc., USA) which are connected to a single multi-port card in a personal computer. When specimen are collected from tramp)inly sites, they are transferee to the laboratory In the Yonsei Cardiovascular Center After analysis, the result is transmitted to the personal computer via serial commnunication between machine and multi-port card using interrupt method. Then, the patient's information (Name, Patient ID No., etc.) is obtained from the HOST computer througth the emulator. The combined data (patient information & lab data) is transmitted to each request site via LAN automatically These results are stored in the File Server for one year and they can be reviewed anytime. Also, it could be used for the various statistics and the flow chart for clinical research. Additionally, we found thal this system reduces the personal labor.

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Comparison of Appropriate Piperacillin/Tazobactam Doses in Korean Obese Patients with Cancer Based on Different Body Size Descriptor Equations in a Tertiary Care Hospital (국내 3차 병원의 비만 암환자에서 각각 다른 체중 측정 공식들을 적용한 piperacillin/tazobactam의 용량 적절성 비교 연구)

  • Kim, Ji Hyun;Yang, Young-Mo;Yoon, Hyonok;Choi, Eun Joo
    • Korean Journal of Clinical Pharmacy
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    • v.27 no.2
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    • pp.83-91
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    • 2017
  • Background: Piperacillin/tazobactam (TZP) is an antibiotic against a broad spectrum of gram-positive, gram-negative, and aerobic and anaerobic strains of bacteria. Due to changes in its pharmacokinetic and pharmacodynamic parameters by TZP-treated patients' renal functions and obesity, it is important to administrate and monitor TZP based on their renal functions and Body Mass Index (BMI) levels. The purpose of this study was to determine the appropriateness of administration doses of TZP based on renal functions of obese cancer patients in a tertiary hospital. Methods: This study was retrospectively conducted with obese cancer patients with $BMI{\geq}30kg/m^2$ in a tertiary hospital, Korea from September 2004 to August 2014. Data were collected through Electronic Medical Record (EMR) which contained laboratory data and TZP dosing of each patient. Results: Among 7,058 patients during the study period, 102 prescriptions were selected based on inclusion and exclusion criteria and classified by their renal functions. Although TZP should be used based on patients' renal functions to adjust its dose, its initial dose and dosing interval were consistently used without considering patients' renal functions on a regular basis. Especially, in the comparison with FDA dosing standard of TZP, approximately twice patients with $20mL/min{\leq}CrCl{\leq}40mL/min$ received domestically 4.5 g instead of 2.25 g as the TZP starting dose. Conclusion: The appropriate doses of TZP were administered to almost all of obese cancer patients; however, the recommended TZP dose was different between Korea and other countries by twice the amount. Further related studies are necessary to clearly determine the results, to optimize TZP treatment for obese patients with cancer in clinical practice, and to design and develop new TZP formulations for them in pharmaceutical industry.

Clinical Examination and Control Measures in a Commercial Pig Farm Persistently Infected with Porcine Epidemic Diarrhea(PED) Virus (돼지유행성설사병 지속감염 양돈장의 임상검사 및 방제대책)

  • Park, Choi-Kyu;Lee, Chang-Hee
    • Journal of Veterinary Clinics
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    • v.26 no.5
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    • pp.463-466
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    • 2009
  • A swine farm located in the Kyungpook province (designated as farm D that have been suffering from PED for several years was selected to study the etiology and the outbreak pattern of PED by clinical and laboratory examinations. Clinical examination indicated that sows exhibited signs of mastitis resulting in an inadequate transfer of lactogenic immunity against PEDV to newborn piglets. Furthermore, serological tests revealed that all sow groups and their piglets had low levels of anti-PEDV antibody. These data suggest that improper vaccination program has been indeed performed in this farm. Remarkably, despite no symptoms of PED in weaners, the presence of PEDV was identified by RT-PCR from fecal samples of weaning piglets, indicating persistent PEDV circulation in the herd. Based on these results, the following basic control schemes were executed for the control of PEDV circulation in the farm; a) A quick removal of affected pigs and disinfection of affected sheds. b) restructuring of vaccination program and employment of consultant. c) prompt treatment of mastitis and removal of poor lactogenic sows, and d) enhancement of biosecurity of farrowing house by acquisition of additional space. We evaluated risk factors and implementation of control measures in two months and were unable to found any case related to PEDV infection. Taken together, our data indicate that the method described above is effective for the control of PED outbreak in farm persistently suffering from PEDV infection.

Celiac Disease in South Jordan

  • Altamimi, Eyad
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.20 no.4
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    • pp.222-226
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    • 2017
  • Purpose: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. Methods: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. Results: Thirty-five children were diagnosed with celiac disease during the study period. Mean age${\pm}$standard deviation was $6.7{\pm}3.8$ years (range, 2.0-14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was $16.3{\pm}18.7$ months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. Conclusion: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.

10-year Analysis of Inherited Metabolic Diseases Diagnosed with Tandem Mass Spectrometry (탠덤 매스 검사(Tandem Mass Spectrometry)를 이용한 선천성 대사이상 선별검사 10년간의 분석)

  • Lee, Bomi;Lee, Jiyun;Lee, Jeongho;Kim, Suk Young;Kim, Jong Won;Min, Won-Ki;Song, Woon Heung;Song, Jung Han;Woo, Hang Jae;Yoon, Hye Ran;Lee, Yong-Wha;Choi, Koue Young;Choi, Tae Youn;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.77-84
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    • 2017
  • Purpose: From the early 1990's, use of Tandem mass spectrometry in neonatal screening test, made early stage detection of disorders that was not detectable by the previous methods of inspection. This research aims to evaluate the frequency of positive results in national neonatal screening test by Tandem mass spectrometry and its usefulness. Methods: A designated organization for inherited metabolic disorder executed neonatal screening test on newborns using Tandem mass spectrometry from January 2006 to December 2015, followed by the investigation of these data by the Planned Population Federation of Korea (PPFK), and this research analyzed those inspected data from the PPFK. Results: Among total childbirth of 4,590,606, from January 2006 to December 2015, 3,445,238 were selected for MS/MS and conduction rate was 75.1%. 261 out of the selected 3,445,238 were confirmed patients and for last decade, detection rate of total metabolic disorder was 1/13,205. In 261 confirmed patients, 120 had an amino acid metabolic disorder and its detection rate was 1/28,710 and 110 had an organic acid metabolic disorder and detection rate was 1/31,320. Also, 31 had a fatty acid metabolic disorder and detection rate was 1/13,205. Conclusion: Inherited metabolic disorder is very rare. Until now, it was difficult to precisely grasp an understanding on the national incidence of inherited metabolic disorder, due to lack of overall data and inconsistent and incomplete long-term result analysis. However, this research attempted to comprehensively approach the domestic incidence, by analyzing previous 10 years of data.

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A gene expression database for the molecular pharmacology of cancer

  • Scherf, Uwe;Ross, Douglas-T.;Waltham, Mark;Smith, Lawrence-H.;Lee, Jae-K.;Tanbe, Lorraine;Kohn, Kurt-W.;Reinhold, William-C.;Mayers, Timothy-G.;Andrews, Darren-T.;Scudiero, Dominic-A.;Eisen, Michael-B.;Sausville, Edward-A.;Pommier, Yves;Botstein, David;Brown, Patrick-O.;Weinstein, John-N.
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2001.08a
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    • pp.129-137
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    • 2001
  • We used cDNA microarrays to assess gene expression profiles in 60 human cancer used in a drug discovery screen by the National Cancer Institute. Using these data, we linked bioinformatics and chemoinformatics by correlating gene expression and drug activity pattens in the NCI60 lines. Clustering the cell lines on the basis of gene expression yielded relationships very different from those obtained by clustering the cell lines on the basis of their response to drugs. Gene-drug relationships for the clinical agents 5-fluorouracil and L-asparaginase exemplify how variations in the transcript levels of particular genes relate to mechanisms of drug sensitivity and resistance. This is the first study to intergrate large databases on gene expression and molecular pharmacology.

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