• Title/Summary/Keyword: Syndrome Identification

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CaPSPI(Diagnostic System for Climacteric and Postmenopausal Syndrome Pattern Identification) 업그레이드를 위한 검진용 치료용 진단 결과 분석에 대한 통계 연구 (A Statistical Study on the Result Analysis of CaPSPI, a Diagnostic System for Climacteric and Postmenopausal Syndrome Pattern Identification)

  • 김태희;이인선;김종원;전수형;지규용;강창완
    • 대한한방부인과학회지
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    • 제35권3호
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    • pp.105-121
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    • 2022
  • Objectives: It is a statistical analysis study to examine the results of CaPSPI (Diagnostic System for Climacteric and Postmenopausal Syndrome Pattern Identification), developed for objective defecation of climacteric and postmenopausal syndrome. Methods: Total 341 people's questionnaire responses were statistically analyzed. 275 people involved in developing CaPSPI 2018 (E) and 146 people involved in 2019-2020 study of research1,3). Results: The frequency of diagnosis for examination was the highest at liver depression, 93.8% for 320 times, the lowest at heartheat, 62.8% for 214 times. The frequency of treatment for examination was the highest at liver depression, 54.3% for 185 times, and the lowest at dual deficiency of heart-spleen, 16.7% for 57 times. The diagnosis ratio was the lowest at dual deficiency of heart-spleen, 19.72%, and the highest at liver depression, 57.81%. As a result of comparing these diagnoses with the Kupperman's index, all showed significant differences. As a result of comparing these disease elements, all showed significant differences. The correlation between diagnosis and dialectic elements was found to have similar results with the korean medical pathology, and in 7 dialectics except for heartheat, the treatment version was more severe or progressing to perjury than for examination. Conclusions: The CaPSPI shows the characteristics of korean medicine well, and it is needed to utilize the high correlative disease elements to upgrade the system.

대사증후군의 관련 인자별 유병률 (Prevalence by Factors associated with Metsbolic Syndrome)

  • 이태용;윤달식;이준기;박옥자;박현정;김인삼
    • 한국건강관리협회지
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    • 제4권1호
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    • pp.85-94
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    • 2006
  • Background Cardiovascular disease is becoming an important national health issue since its recent increase in incidence and mortality. The study was conducted to find out the prevalence of metabolic syndrome according to the clinical identification criteria by NCEP-ATP3 and Asia-Pacific criteria. Meterials & Methods: The subjects were 759 people -male 375 and female 384 after twenties age - who had undergone medical examinations at Korea Association of Health, Daejeon- Chungnam Branch. The prevalence of metabolic syndrome was assessed as defined by the NCEP ATP3, while abdominal obesity was assessed according to the Asia-Pacific guidelines. Anthropometric variables and cardiovascular risk factors were measured, and Associated factors with metabolic syndroms was analyzed by logistic regression analysis. Results The prevalence of metabotic syndrome was 24.O% for male and 27.1% for female The high blood pressure was the highest prevalent risk factors of metabolic syndrome. In the age group of thirties, the prevalence of metabolic syndrome was higher in men than in women, however it was significantly higher in women than in men in fifties and six ties. The metabolic syndrome was more prevalent in aged people over 50 years. and .significantly associated with BMI index(odds ratio 2.58 in male, 9.87 in female)Conclusions The prevalence of metabolic syndrome is over 20%.Early detection and intervention of risk factors by health examination and promotion are needed for prevention of metabolic syndrome.

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Sepsis and Acute Respiratory Distress Syndrome: Recent Update

  • Kim, Won-Young;Hong, Sang-Bum
    • Tuberculosis and Respiratory Diseases
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    • 제79권2호
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    • pp.53-57
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    • 2016
  • Severe sepsis or septic shock is characterized by an excessive inflammatory response to infectious pathogens. Acute respiratory distress syndrome (ARDS) is a devastating complication of severe sepsis, from which patients have high mortality. Advances in treatment modalities including lung protective ventilation, prone positioning, use of neuromuscular blockade, and extracorporeal membrane oxygenation, have improved the outcome over recent decades, nevertheless, the mortality rate still remains high. Timely treatment of underlying sepsis and early identification of patients at risk of ARDS can help to decrease its development. In addition, further studies are needed regarding pathogenesis and novel therapies in order to show promising future treatments of sepsis-induced ARDS.

FRMD7-associated Infantile Nystagmus Syndrome

  • Choi, Kwang-Dong;Choi, Jae-Hwan
    • Journal of Interdisciplinary Genomics
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    • 제2권2호
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    • pp.13-17
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    • 2020
  • Infantile nystagmus syndrome (INS) is a genetically heterogeneous disorder. To date, more than 100 genes have been reported to cause INS and there is significant overlap in phenotypic characteristics. The most common form of X-linked INS is attributed to FRMD7 at Xq26. Recent advances in molecular genetics have facilitated the identification of pathogenic variants of FRMD7 and the investigation for underlying mechanisms of FRMD7-associated INS. This review summarizes genetic and clinical features of FRMD7-associated INS, and introduces updates on the pathogenesis of FRMD7 mutation.

Tumour Lysis Syndrome: Implications for Cancer Therapy

  • Mika, Denish;Ahmad, Sabrina;Guruvayoorappan, C.
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권8호
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    • pp.3555-3560
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    • 2012
  • The tumour lysis syndrome (TLS) is a group of metabolic abnormalities caused by rapid and unexpected release of cellular components into the circulation as a result of massive destruction of rapidly proliferating malignant cells. It usually develops in patients with hematologic malignancies like acute lymphoid leukemia, non-Hodgkin and Burkitt's lymphoma after initiation of chemotherapy or may, rarely, occur spontaneously. Though TLS is seldom observed in relation to solid tumours, there have been reports of connections with examples such as lung, liver, breast, gastric carcinomas. The clinical manifestations of TLS include hyperuricemia, hyperkalemia, hyperphosphatemia and hypocalcemia. These indications if untreated lead to life-threatening complications such as acute renal failure, cardiac arrhythmias, seizures, and eventually death due to multiorgan failure. Therefore early detection of TLS is of vital importance. This can be accomplished by identification of high risk patients, implementation of suitable prophylactic measures andmonitoring of the electrolyte levels in patients undergoing chemotherapy.

기관지 폐포 세정액의 세포학적 소견 (Cytologic Findings of Bronchoalveolar Lavage)

  • 권건영;조승제;박관규;장은숙
    • 대한세포병리학회지
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    • 제1권2호
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    • pp.129-138
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    • 1990
  • Bronchoalveolar lavage (BAL) has emerged as a useful technique for the study of pulmonary interstitial disorders. Several types of Information are provided by the evaluation of lavage fluid identification of cellular constituents helps to separate inflammatory process. Recently we have studied cellular constituents of BAL from three cases with histologically confirmed pulmonary sarcoidosis, idiopathic pulmonary fibrosis and hypereosinophilic syndrome. Pulmonary sarcoidosis showed a marked increase in lymphocytes, idiopathic pulmonary fibrosis revealed a predominance of neutrophils, and hypereosinophilic syndrome presented a marked increase in eosinophils in the lavage fluids.

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Identification of Large Deletion of Mitochondrial DNA in Kearns-Sayre Syndrome (KSS)

  • Kim, Sang-Ho
    • Journal of Life Science
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    • 제9권1호
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    • pp.1-4
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    • 1999
  • Large-scale deletions of mitochondrial DNA(mtDNA) have been documented in patients with mitochondrial myopathies and seem to be especially frequent in patients with Kearns-Sayre syndrome (KSS). About one third of all patients shows a 4,977 bp deletion, known as the "common deletion", that removes a segment of DNA that includes several genes encoding for respiratory chain subunits. In this disorder, the population of deleted mtDNA molecules coexists with population of normal, wild-type full length mtDNAs, a situation known as heteroplasmy. We have performed polymerase chain reaction (PCR) on paraffin-embedded muscle tissues from two korean KSS patients. The PCR analysis revealed the existence of two amplified fragments, the deleted fragments, the deleted fragment of 123 bp characteristic for common deletion and the wild-type fragment of 152 bp.of 152 bp.

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Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

  • Bae, Soyoung;Yang, Aram;Ahn, Ja-Hye;Kim, Jinsup;Park, Hyun Kyung
    • Journal of Genetic Medicine
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    • 제18권1호
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    • pp.60-63
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    • 2021
  • Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

횡문근육종의 골전이가 동반된 워너증후군 1례 (A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma)

  • 송준환;선동신;김호;이윤희;홍용희;이동환
    • Journal of Genetic Medicine
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    • 제6권1호
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    • pp.91-94
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    • 2009
  • 저자들은 출생당시 특이소견 없었고, 유전질환의 가족력이 없는 20세 남자 환자에서 우측하지에 골전이가 동반된 횡문근 육종을 발견하고, 저신장, 탈모, 백내장, 치열이상, 골다공증, 갑상선기능저하증, 작은 손과 발, 사지는 가늘고 체간이 두터우며, 신체에 비해 큰 머리등 특이한 외모를 가진 워너증후군으로 진단한 1례를 경험하였기에 문헌 고찰과 함께 보고하고자 한다.

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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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    • 제59권1호
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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.