• Title/Summary/Keyword: Disease diagnostics

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Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization

  • Sills, E. Scott;Obregon-Tito, Alexandra J.;Gao, Harry;McWilliams, Thomas K.;Gordon, Anthony T.;Adams, Catharine A.;Slim, Rima
    • Clinical and Experimental Reproductive Medicine
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    • v.44 no.1
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    • pp.40-46
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    • 2017
  • Objective: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. Methods: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening. Findings in NLRP7 were recorded and embryo culture and biopsy data were tabulated as a function of parental origin for any identified ploidy error. Results: The patient was found to have a pathogenic variant in NLRP7 (c.2810+2T>G) in a homozygous state. Fifteen oocytes were retrieved and 10 embryos were available after fertilization via intracytoplasmic sperm injection. Developmental arrest was noted for all 10 embryos after 144 hours in culture, thus no transfer was possible. These non-viable embryos were evaluated by karyomapping and all were diploid biparental; two were euploid and eight had various aneuploidies all of maternal origin. Conclusion: This is the first report of early human embryo development from a patient with any NLRP7 mutation. The pathogenic variant identified here resulted in global developmental arrest at or before blastocyst stage. Standard IVF should therefore be discouraged for such patients, who instead need to consider oocyte (or embryo) donation with IVF as preferred clinical methods to treat infertility.

Clinical Significant of Breathing in the oriental, western Medicine (조식(調息)의 동서의학적(東西醫學的) 임상(臨床) 의의(意義))

  • Park, Jin-Sung;Park, Young-Jae;Park, Young-Bae;Huh, Young
    • The Journal of the Society of Korean Medicine Diagnostics
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    • v.12 no.1
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    • pp.63-79
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    • 2008
  • Background: The consequences of disordered breathing patterns are not only distressing to the patient but also expensive to our health care systems if they are not diagnosed and treated. So we performed this study to investigate clinical significants trough gigong, yoga and hyperventilation in oriental medicine and westen medicine Method: Voluntary control of respiration is one of the main methods of physical and mental training such as meditation, qigong meditation or Yoga. So, this study focuses on breathing in qigong and yoga. This study appreciates a role that a control of respiration has in physical, mental aspects and searches side-effects in qigong and yoga Conclusions: A control of respiration has a function that manages Jung(精), Qi(氣), Shin(神) in Oriental Medicine. It manages Autonomic Nerve system, Endocrine system and induces natural awareness. So Briging the body and mind work through a control of breathing. Breathing pattern disorder has Damum and Qiher pattern in Oriental Medicine pattern. This disease pattern concearnes ATP metabolism. Qiher is concearned with a mitochondria disorder and Damum is concearned with a products of lactate. we guess that Lactate analysis may be utilized as a diagonostic criteria of Breathing pattern disorder. After this, It needs a study that Lactate analysis is concearned with Breathing pattern disorder as Damum pattern. Result: A control of respiration is related not only breathing but also spiritual and physical state. Joo-hwa-ip-ma as Breathing pattern disorder is smiliar to hyperventilation. HVS is patternated Damum and Qi-Weakness pattern in oriental medicine. Lactate is an important complement that diagonates HVS and will be concearned with Damum.

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Review on Phlegm in Hyungsang medicine (담음에 관한 형상의학적 고찰)

  • Kim Min Jung;Kim Kyung Chul;Lee Yang Tae
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.16 no.3
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    • pp.435-442
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    • 2002
  • Phlegm is defined as the static fluid in excess in one or more parts of the body. It is not only a pathologic product but also a pathogen itself. However, as it says Phlegm is another title for the body fluid. phlegm can be physiological. In Hyungsang medicine. since the Hyungsang which an individual shows determines his or her illness. the principle to treat phlegm also varies according to the individual's Hyungsang. Thus, the author reviewed ‘Jisan’s Special Lectures for Clinicians’ and summarized the concepts and diagnostics of phlegm, and treatment and regimens by Hyungsang medicine. The concepts of phlegm : Phlegm is not only a pathologic product of disharmony of Jung(精), Ki(氣), Shin(神) and Hyul(血) but also a driving force to mature and transform these constituents. Phlegm is another designation for the Fluid. Phlegm can act as an alternative substance or buffering agent. If we describe our body as the habitat of worms. phlegm could be the inhabitant. Diagnostics of phlegm : The infraorbital areas have a dark-gray or blackish coloring. A man who is feminine or a woman who is masculine tends to develop phlegm. One of the major signs of phlegm is pain in Chungwan(中脘). The color of the skin does not change. Treatment of phlegm by Hyungsang medicine. For the Jung type(精科) and the Hyul type(血科), phlegm treatment is to supply Jung and Blood or eliminate Damp-phlegm. The man needs tonifying herbs and the woman needs herbs which promote the flow of Ki(氣). Children and the aged are. tegardless of the nature of disease, to be warmed and supplemented. For the heavy man. treatment is to supplement Ki and eliminate Damp; for the slim man. treatment is to supplement Yin(陰) and purge Heat.

Study on the Correlation between Sasang Constitution and the Data of Pulse Diagnosis Device - A Systematic Review in Korean Articles - (사상체질과 맥진기 검사 결과와의 상관성에 대한 연구 - 국내 논문에 대한 체계적 고찰 -)

  • Lee, Hye Yoon;Jung, A Ram;Son, Han Beom;Hwang, Man Suk;Lee, Jeong Won;Kim, Gyeong Cheol;Yun, Young Ju
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.26 no.5
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    • pp.621-629
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    • 2012
  • This study aimed to examine the possibility of data from pulse diagnosis device to be used for diagnosis of Sasang constitution. Systematic searches of 5 major Korean medical database were conducted for articles published up to May 2012. Searching key word was "Sasang" or "Constitution". Studies dealt with correlation between Sasang constitution and the pulse wave data from pulse diagnosis machine were included. Totally 2886 studies are searched and 3 studies are added from references of evaluated articles. Among them, 12 studies were met our inclusion criteria (2 Xishu Mac, 2 Self-made pulse diagnosis machine, 8 3D-Mac). Three of the eight 3D-Mac studies intended to develop a formula of constitutional differential diagnosis, 2 studies compared variables by Sasang constitution in healthy group and 3 studies compared variables by Sasang constitution in healthy group and special disease group. They all reported some significant variables, however results are not consistent between studies. The accuracy of the formula of constitutional differential diagnosis using 3D-Mac pulse diagnosis devices is 46.0% by now. Improvements in measuring pulse are required to achieve more accurate result and be used for diagnosis of Sasang constitution. Compensating B.M.I. among Sasang constitutional groups and separating constitutional pulse factors from acquired characteristics are also needed in further study.

A Study about Graphic Structures of Ontology Network System with Priority Given to Symptoms of Taeyangbyung Compilation in Sanghannon (상한론(傷寒論) 태양병편(太陽病編) 중 증상명(症狀名) 중심의 온톨로지(Ontology)적 그래픽 구조 연구 1 - 태양병(太陽病) 증상-방제 연결구조 분석을 중심으로 -)

  • Hong, Dae-Ki;Park, Young-Jae;Yook, Soon-Hyung;Oh, Hwan-Sup;Park, Young-Bae
    • The Journal of the Society of Korean Medicine Diagnostics
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    • v.14 no.1
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    • pp.57-69
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    • 2010
  • Background: This is a study for building up the database foundation and about graphic structures of Ontology Network systems of Taeyangbyung compilation in Sanghannon in Traditonal Korean Medicine. Therefore, we began to this study about the systematic clinical ontology network systems with priority given to symptoms of Taeyangbyung compilation in Sanghannon. Purpose: We have two goals to carry out this study. The first, we will establish the minimum clinical grouping data sets about symptoms of Taeyangbyung compilation in Sanghannon. The second, we will find out graphic structures of ontology network system in this part, and analysis that. Methods: Through MS office Excel, Access and Netminer software, we will construct the minimum clinical grouping data sets and the graphic structures of ontology network system about symptoms of Taeyangbyung compilation in Sanghannon, and analysis that. Results: We established the minimum clinical grouping data sets about symptoms of Taeyangbyung compilation in Sanghannon through MS Excel and Access software, and constructed the ontology images to structurize our database through Netminer program, and analysis that. Conclusions: Further research about ontology network between symptoms and prescription and three Yang and three Um(Taeyang, Soyang, Yangmyung, Taeum, Soum, Gualum) Disease compilation is necessary.

A Study on Reliability and Validity of the Pyungweesan Patternization Questionnaire by the Pathogenesis Analysis (병인론적(病因論的) 분석(分析)에 의한 평위산변증설문지(平胃散辨證設問紙)의 신뢰도(信賴度) 타당도(妥當度) 연구(硏究))

  • Lim, Jun-Sung;Park, Young-Bae;Park, Young-Jae;Lee, Sang-Chul;Oh, Whan-Sup
    • The Journal of the Society of Korean Medicine Diagnostics
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    • v.11 no.2
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    • pp.59-67
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    • 2007
  • Objectives: Pathogenesis treats cause of disease. Pyungweesan is pathogenic prescription of indigestion. This study researched for developing questionnaire of prescribing pyungweesan. Methods: Korean medical doctor classified the patients into two group, pyungweesan symptom group and non pyungweesan symptom group. After that, each group responsed to the questionnaire. We tested for both the reliability and validity of the questionnaire. For validity test, we compared the sum, average and standard deviation of 20 items of pyungweesan symptom group with those of non-pyungweesan symptom group through independent sample t-test, For reliability test, we computerized crohnbach's a value of the items. Results: The developed questionnaire showed remarkable reliability. (Cronbach's ${\alpha}$ =0.854) There were a significant differences on the sum of the 20 items and each 19 item's average and standard deviation, except 1 item; Do you have an irregular discharge from the womb? Conclusions: Based on the results of the above analysis, the korean medical doctor will make an effort to apply the pyungweesan questionnaire clinically. In the future, the additional research is needed.

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Study on the method of Jeolgyeong using palpation of meridian and acupoint (경락경혈 안진법을 적용한 절경(切經) 방법론에 대한 고찰)

  • Yu, Jun-Sang
    • The Journal of the Society of Korean Medicine Diagnostics
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    • v.25 no.1
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    • pp.72-87
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    • 2021
  • Objectives This is the review on the Jeolgyeong which means diagnosis method of meridian and acupoints. Detecting method of meridian and acupoints under the disease condition using fingertips were more developed in Japan than in China and Korea. This study is the introduction to the Japanese style palpation method on meridian and acupoints. Methods Firstly the textbook 'Acupuncture medicine' published by the committee of Korean professors' association of acupuncture and moxibustion was analyzed. Especially the contents of the palpation method on meridian and acupoints were focused and summarized and secondly the book describing the palpation method on meridian and acupoints was selected, translated and summarized. Results Until now the knowledge on the acupoints reaction depending on the patient's status, the deficiency pattern and the excessive pattern was rarely described in China and Korea. On the contrary, 4 kinds of reactions in the deficiency pattern and 4 kinds of reactions in the excessive pattern were well described in Japanese literatures. Mild touching, mild pinching, rubbing, mild pressing and severe pressing were also described along the meridians. Except the bladder meridian Back Shu points, Yuan points, Luo points, Xi(cleft) points, Front Mu points were depicted as the same as those in China and Korea. For the bladder meridian lines, 4 lines were organized including 2 lines of Hua-Tuo-Jia-Ji-Xue and the middle line between 1st and 2nd bladder meridian line as well as 1st bladder meridian line and 2nd bladder meridian line. Conclusions Detecting meridians or acupoints and using them for diagnosis and treatment is a method used in China, Korea, and Japan. However, detailed descriptions of the method for detecting meridians through palpation are revealed in Japanese books. Palpation methods for diagnosing meridians using touching, pinching, rubbing, and pressing methods are expected to be standardized and systematically learned in Korea.

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Endoscopic submucosal dissection for superficial esophageal squamous cell carcinoma: long-term follow-up in a Western center

  • Andreas Probst;Alanna Ebigbo;Stefan Eser;Carola Fleischmann;Tina Schaller;Bruno Markl;Stefan Schiele;Bernd Geissler;Gernot Muller;Helmut Messmann
    • Clinical Endoscopy
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    • v.56 no.1
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    • pp.55-64
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    • 2023
  • Background/Aims: Endoscopic submucosal dissection (ESD) has been established as a treatment modality for superficial esophageal squamous cell carcinoma (ESCC). Long-term follow-up data are lacking in Western countries. The aim of this study was to analyze long-term survival in a Western center. Methods: Patients undergoing ESD for ESCC were included. The analysis was performed retrospectively using a prospectively collected database. Results: R0 resection rate was 96.7% (59/61 lesions in 58 patients). Twenty-seven patients (46.6%) fulfilled the curative resection criteria (M1/M2) (group A), 11 patients (19.0%) had M3 lesions without lymphovascular invasion (LVI) (group B), and 20 patients (34.5%) had lesions with submucosal invasion or LVI (group C). Additional treatment was recommended after non-curative resection. It was not performed in 20/31 patients (64.5%), mainly because of comorbidities (75%). Twenty-nine out of 58 (50.0%) patients died during a mean follow-up of 3.7 years. Death was related to ESCC in 17.2% (5/29) of patients. The disease-specific survival rate after curative resection was 100%. Overall survival rates after 5 years were 61.5%, 63.6% and 28.1% for groups A, B, and C, respectively. The overall survival was significantly worse after non-curative resection (p=0.038). Conclusions: Non-curative resection is frequent after ESD for ESCC in Western patients. The long-term prognosis is limited and mainly determined by comorbidity. Early diagnosis and pre-interventional assessments need to be improved.

Implementation of point-of-care platforms for rapid detection of porcine circovirus type 2

  • Chiao-Hsu Ke;Mao-Yuan Du;Wang-Ju Hsieh;Chiu-Chiao Lin;James Mingjuh Ting;Ming-Tang Chiou;Chao-Nan Lin
    • Journal of Veterinary Science
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    • v.25 no.2
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    • pp.28.1-28.11
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    • 2024
  • Background: Porcine circovirus type 2 (PCV2) infection is ubiquitous around the world. Diagnosis of the porcine circovirus-associated disease requires clinic-pathological elements together with the quantification of viral loads. Furthermore, given pig farms in regions lacking access to sufficient laboratory equipment, developing diagnostic devices with high accuracy, accessibility, and affordability is a necessity. Objectives: This study aims to investigate two newly developed diagnostic tools that may satisfy these criteria. Methods: We collected 250 specimens, including 170 PCV2-positive and 80 PCV2-negative samples. The standard diagnosis and cycle threshold (Ct) values were determined by quantitative polymerase chain reaction (qPCR). Then, two point-of-care (POC) diagnostic platforms, convective polymerase chain reaction (cPCR, qualitative assay: positive or negative results are shown) and EZtargex (quantitative assay: Ct values are shown), were examined and analyzed. Results: The sensitivity and specificity of cPCR were 88.23% and 100%, respectively; the sensitivity and specificity of EZtargex were 87.65% and 100%, respectively. These assays also showed excellent concordance compared with the qPCR assay (κ = 0.828 for cPCR and κ = 0.820 for EZtargex). The statistical analysis showed a great diagnostic power of the EZtargex assay to discriminate between samples with different levels of positivity. Conclusions: The two point-of-care diagnostic platforms are accurate, rapid, convenient and require little training for PCV2 diagnosis. These POC platforms can discriminate viral loads to predict the clinical status of the animals. The current study provided evidence that these diagnostics were applicable with high sensitivity and specificity in the diagnosis of PCV2 infection in the field.

Insights into granulosa cell tumors using spontaneous or genetically engineered mouse models

  • Kim, So-Youn
    • Clinical and Experimental Reproductive Medicine
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    • v.43 no.1
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    • pp.1-8
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    • 2016
  • Granulosa cell tumors (GCTs) are rare sex cord-stromal tumors that have been studied for decades. However, their infrequency has delayed efforts to research their etiology. Recently, mutations in human GCTs have been discovered, which has led to further research aimed at determining the molecular mechanisms underlying the disease. Mouse models have been important tools for studying GCTs, and have provided means to develop and improve diagnostics and therapeutics. Thus far, several genetically modified mouse models, along with one spontaneous mouse model, have been reported. This review summarizes the phenotypes of these mouse models and their applicability in elucidating the mechanisms of granulosa cell tumor development.