• 제목/요약/키워드: Clinical phenotype

검색결과 279건 처리시간 0.027초

Latent Autoimmune Diabetes in Adults: A Review on Clinical Implications and Management

  • Pieralice, Silvia;Pozzilli, Paolo
    • Diabetes and Metabolism Journal
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    • 제42권6호
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    • pp.451-464
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    • 2018
  • Latent autoimmune diabetes in adults (LADA) is a heterogeneous disease characterized by a less intensive autoimmune process and a broad clinical phenotype compared to classical type 1 diabetes mellitus (T1DM), sharing features with both type 2 diabetes mellitus (T2DM) and T1DM. Since patients affected by LADA are initially insulin independent and recognizable only by testing for islet-cell autoantibodies, it could be difficult to identify LADA in clinical setting and a high misdiagnosis rate still remains among patients with T2DM. Ideally, islet-cell autoantibodies screening should be performed in subjects with newly diagnosed T2DM, ensuring a closer monitoring of those resulted positive and avoiding treatment of hyperglycaemia which might increase the rate of ${\beta}-cells$ loss. Thus, since the autoimmune process in LADA seems to be slower than in classical T1DM, there is a wider window for new therapeutic interventions that may slow down ${\beta}-cell$ failure. This review summarizes the current understanding of LADA, by evaluating data from most recent studies, the actual gaps in diagnosis and management. Finally, we critically highlight and discuss novel findings and future perspectives on the therapeutic approach in LADA.

Growth, Clonability, and Radiation Resistance of Esophageal Carcinoma-derived Stem-like Cells

  • Li, Jian-Cheng;Liu, Di;Yang, Yan;Wang, Xiao-Ying;Pan, Ding-Long;Qiu, Zi-Dan;Su, Ying;Pan, Jian-Ji
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권8호
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    • pp.4891-4896
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    • 2013
  • Objective: To separate/enrich tumor stem-like cells from the human esophageal carcinoma cell line OE-19 by using serum-free suspension culture and to identify their biological characteristics and radiation resistance. Methods: OE-19 cells were cultivated using adherent and suspension culture methods. The tumor stem-like phenotype of CD44 expression was detected using flow cytometry. We examined growth characteristics, cloning capacity in soft agar, and radiation resistance of 2 groups of cells. Results: Suspended cells in serum-free medium formed spheres that were enriched for CD44 expression. CD44 was expressed in 62.5% of suspended cells, but only in 11.7% of adherent cells. The suspended cells had greater capacity for proliferation and colony formation in soft agar than the adherent cells. When the suspended and adherent cells were irradiated at 5 Gy, 10 Gy, or 15 Gy, the proportion of CD44+ suspended cells strongly and weakly positive for CD44 was 77.8%, 66.5%, 57.5%; and 21.7%, 31.6%, 41.4%, respectively. In contrast, the proportion of CD44+ adherent cells strongly positive for CD44 was 18.9%, 14.%, and 9.95%, respectively. When the irradiation dose was increased to 30 Gy, the survival of the suspended and adherent cells was significantly reduced, and viable CD44+ cells were not detected. Conclusion: Suspended cell spheres generated from OE-19 esophageal carcinoma cells in serum-free stem medium are enriched in tumor stem-like cells. CD44 may be a marker for these cells.

한국인 묘성증후군 20명 환자에서의 5p 결실 양상 분석 (The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome)

  • 박상진;김숙령;백금녀;윤준노;정은정;권지은;김현주
    • Journal of Genetic Medicine
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    • 제4권2호
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    • pp.133-141
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    • 2007
  • 목 적:임상증상으로 정신지체, 발육부진, 소두증 등으로 묘성 증후군(Cri du Chat syndrome, CdCs)으로 의뢰된 20명 환자와 부모를 포함한 분자 및 세포유전학적 결과를 분석하므로, 유전형과 표현형과의 상관관계를 고찰하고자 하였다. 방 법:환자와 부모에 대해 분자세포유전학적(FISH, CGH array)및 세포유전학적 분석을 시행하였고, 이와 함께 임상양상에 대한 비교분석을 시행하였다. 결 과:20명 환자에 대한 5p 결실 양상에 대한 분석 결과 del(5)(p14)이 9명(45%)로 가장 많았으며, del(5)(p13)이 7명(35%), del(5)(p15.1)(15%)이 3명, del(5)(p15.2)이 1명(5%) 순의 결실 양상을 확인하였다. 또한 4명(20%)에서는 5p 결실 외에 다른 염색체(6, 8, 18, 22번)의 결실과 중복이 있음이 확인 되었고, 이중 3명의 환자는 부모 중 한 사람의 균형적 전자에서 기원한 불균형 전자 유형이었다(기원은 부계 2명, 모계 1명). 그리고 5p 결실 부위와 다른 염색체 이상 공존 여부에 따라 매우 다양한 임상적 양상을 나타내었다. 결 론:이와 같이 묘성증후군 환자와 부모를 포함하는 5번 염색체 단완의 결실양상에 대한 분자 세포 유전학 분석에 의한 정확한 결실 부위의 확인과 다른 염색체 이상의 결손과 증폭의 공존 여부를 확인함으로써 유전형과 임상적 표현형과의 상관관계를 이해하는데 유용할 것이라 생각된다. 나아가 묘성 증후군 환자와 가족에 대한 효과적인 유전상담에 도움이 될 것이라 사료된다.

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VITEK 2 시스템과 Multiplex Real-time PCR을 이용한 반코마이신 내성 장알균(VRE)과 내성관련 유전자 검출 (Detection of Vancomycin-Resistant Enterococci and Related Genes Using VITEK 2 System and Multiplex Real-time PCR Assay)

  • 정민경;유영빈;김상하;김성현;김영권
    • 대한임상검사과학회지
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    • 제49권4호
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    • pp.401-406
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    • 2017
  • 이 연구에서 VITEK 2 시스템을 사용하여 $6{\mu}g/mL$ vancomycin이 첨가된 Enterococcosel (EV6 agar에서 배양한 327개의 검체 중 74개의 분리균(22.6%)으로 확인하였다. E. faecium은 55주(74.3%), E. gallinarum 16주(21.6%), E. casseliflavus 2주(2.7%) 및 E. avium 1주(1.4%)로 확인되었다. E. faecium의 55가지 표현형 중 vanA가 42주(76.4%), vanB가 9주(16.4%), vanC 표현형이 4주(7.3%)로 나타났다. E. gallinarum 16주와 E. casseliflavus 2주 모두 vanC 표현형을 보였으며 E. avium 1주는 vanB 표현형을 나타내었다. EV4에서만 증식된 E. faecium 1주는 VITEK2 시스템을 이용한 항균제 감수성 검사 결과 vancomycin과 teicoplanin에 모두 감수성이었고 vancomycin 내성 표현형 유전자는 PCR에 의해 검출되지 않았다. 총 327 검체를 $6{\mu}g/mL$ vancomycin (EV6 broth)을 첨가 한 Enterococoscosel broth에서 배양하여 120 균주(36.7%)가 분리되었다. 120균주에서 다중 중합 효소 연쇄반응에 의한 반코마이신 내성 유전형 실험을 실시한 결과, vanA가 51주(42.5%), vanA와 vanC가 5주(4.2%), vanC가 18주(15%), 나머지 46주(38.3%)에서는 vancomycin 내성 유전형 유전자는 검출되지 않았다.

천골미골부에 발생한 연골양 척삭종의 세침흡인 세포학적 소견 - 1예 보고 - (Fine Needle Aspiration Cytology of Sacrococcygeal Chondroid Chordoma - A Case Report -)

  • 김영실;김경미;김진아;이은정;이안희;심상인
    • 대한세포병리학회지
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    • 제8권2호
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    • pp.199-203
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    • 1997
  • Chordoma is an uncommon neoplasm that accounts for approximately 1% to 4% of all primary bone neoplasms and thought to originate from remnants of the fetal notochordal elements. It usually occurs in adults and has a predilection for the sacrococcygeal and spheno-occipital areas. Chondroid chordoma, first described by Heffelfinger et al, is a rare variant of chordoma; it contains both chordomatous and chondromatous features, and has a considerably better prognosis than either chordoma or chondrosarcoma. The cytologic findings of fine needle aspiration of sacrococcygeal chondroid chordoma in a 57-year-old man are presented. Aspiration cytology showed many sheets and cords of neoplastic cells in a thick amorphous blue-purple mucinous background. The cells had small too medium sized round nuclei with coarse granular chromatin and abundant eosinophilic or bubbly cytoplasm. Some cells had pleomorphic and hyperchomatic nuclei with prominent nucleoli. Cytologic findings were compared to histologic findings. Histologically, areas of chondroid differentiation were noted which were absent in the cytologic smear. Immunohistochemically, both the chondroid and chordoid areas had an epithelial phenotype and stained for cytokeratin, epithelial membrane antigen and S-100 protein. This is the first case of cytologic findings of chondroid chordoma to our knowledge in literature.

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Patterns of Nerve Conduction Abnormalities in Patients with Type 2 Diabetes Mellitus According to the Clinical Phenotype Determined by the Current Perception Threshold

  • Park, Joong Hyun;Won, Jong Chul
    • Diabetes and Metabolism Journal
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    • 제42권6호
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    • pp.519-528
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    • 2018
  • Background: Clinical manifestations of diabetic peripheral neuropathy (DPN) vary along the course of nerve damage. Nerve conduction studies (NCS) have been suggested as a way to confirm diagnoses of DPN, but the results have limited utility for evaluating clinical phenotypes. The current perception threshold (CPT) is a complementary method for diagnosing DPN and assessing DPN symptoms. We compared NCS variables according to clinical phenotypes determined by CPT measurements. Methods: We retrospectively enrolled patients with type 2 diabetes mellitus who underwent both NCS and CPT tests using a neurometer. CPT grades were used to determine the clinical phenotypes of DPN: normoesthesia (0 to 1.66), hyperesthesia (1.67 to 6.62), and hypoesthesia/anesthesia (6.63 to 12.0). The Michigan Neuropathy Screening Instrument (MNSI) was used to determine a subjective symptom score. DPN was diagnosed based on both patient symptoms (MNSI score ${\geq}3$) and abnormal NCS results. Results: A total of 202 patients (117 men and 85 women) were included in the final analysis. The average age was 62.6 years, and 71 patients (35.1%) were diagnosed with DPN. The CPT variables correlated with MNSI scores and NCS variables in patients with diabetes. Linear regression analyses indicated that hypoesthesia was associated with significantly lower summed velocities and sural amplitudes and velocities, and higher summed latencies, than normoesthesia. Sural amplitude was significantly lower in patients with hyperesthesia than in patients with normoesthesia. Conclusion: NCS variables differed among patients with diabetes according to clinical phenotypes based on CPT and decreased sural nerve velocities was associated with hyperesthesia.

Effect of Epidermal Growth Factor with Collagen Matrix on Increasing Gingival Thickness: A Pilot Preclinical Investigation

  • Hyun-Chang Lim;Yeek Herr;Jong-Hyuk Chung;Seung-Yun Shin;Seung-Il Shin;Ji-Youn Hong
    • Journal of Korean Dental Science
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    • 제16권2호
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    • pp.172-181
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    • 2023
  • Purpose: To investigate the effect of epidermal growth factor (EGF) with collagen matrix (CM) for increasing gingival thickness. Materials and Methods: In five mongrel dogs, bilateral gingival defects were surgically made on the maxillary canines. After two months, either a subepithelial connective tissue graft (group SCTG) or CM with EGF (0.1 ug/ml, group EGF) was grafted, and the flap was coronally positioned to cover the graft materials. The animals were sacrificed after three months. Intraoral scanning was performed for soft tissue analysis. Histologic and histomorphometric analyses were performed. Result: Two animals exhibited wound dehiscence during the healing phase, leaving three for analysis. No statistically significant difference was found in soft tissue changes (P>0.05). The level of gingival margin (GM) increased in both groups (1.02±0.74 mm in group SCTG vs. 1.24±0.83 mm in group EGF). Linear increases at the GM pre-augmentation in the soft tissue profile were 1.08±0.58 mm in group SCTG and 0.96±0.73 mm in group EGF. Histomorphometric parameters (keratinized tissue height, tissue thickness, and rete peg density) were not significantly different between the groups (P>0.05). Conclusion: EGF loaded onto CM led to comparable gingival phenotype enhancement to SCTG.

SARS-CoV-2의 진단기술 (Diagnostic Techniques for SARS-CoV-2 Detection)

  • 김종식;강나경;박선미;이은주;정경태
    • 생명과학회지
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    • 제30권8호
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    • pp.731-741
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    • 2020
  • 코로나바이러스감염증-19(COVID-19)는 SARS-CoV-2에 의해 발병된다. 지금까지 인간에게 감염되는 7 가지 종류의 코로나 바이러스가 보고되었다. 그 중, HCoV-229E, HCoV-OC43, HCoV-NL63, 그리고 HCoV-HKU1 등 4종류의 코로나바이러스는 감기와 같은 단순 호흡기 질환을 유발한다고 보고되었다. 반면, SARS-CoV는 2002년에, MERS-CoV는 2012년에 각각 대유행을 일으킨 바 있다. 가장 최근에는 2019년 12월 중국 우한에서 처음 보고된 SARS-CoV-2가 전세계적인 대유행의 원인이 되고 있다. 이러한 SARS-CoV-2를 진단하고, 치료하고, 예방하기 위해서는 신속 정확한 진단키트, 치료제, 그리고 안전한 백신의 개발의 필수적으로 요구된다. 이러한 강력한 도구들을 개발하기 위해서는 SARS-CoV-2의 표현형, 유전자형, 그리고 생활주기 등의 연구가 선행되어야 한다. SARS-CoV-2의 진단기술은 현재 크게 두가지의 큰 분야인 분자진단과 면역혈청학적 진단으로 구분할 수 있다. 분자진단의 경우 SARS-CoV-2의 유전체를 대상으로 하며, 면역혈청학적 진단은 SARS-CoV-2의 항원 단백질 혹은 SARS-CoV-2에 대한 항체를 대상으로 한다. 본 총설에서는 SARS-CoV-2의 표현형, 유전체 구조, 그리고 유전자 발현에 대해서 정리하고, SARS-CoV-2에 대한 다양한 진단 기술 등에 대한 기초지식을 제공하고자 한다.

Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

  • Lee, Young Ah;Chun, Peter;Hwang, Eun Ha;Mun, Sang Wook;Lee, Yeoun Joo;Park, Jae Hong
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제19권4호
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    • pp.236-242
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    • 2016
  • Purpose: The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods: The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results: Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion: Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD.

Resistance to Macrolide, Lincosamide and Streptogramin Antibiotics in Staphylococci Isolated in Istanbul, Turkey

  • Aktas, Zerrin;Aridogan, Aslihan;Kayacan, Cigdem Bal;Aydin, Derya
    • Journal of Microbiology
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    • 제45권4호
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    • pp.286-290
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    • 2007
  • The purpose of this study was to investigate the prevalence and genetic mechanisms of erythromycin resistance in staphylococci. A total of 102 erythromycin resistant non-duplicate clinical isolates of staphylococci [78. coagulase negative stapylococci (CNS), 24 Staphylococcus aureus] were collected between October 2003 and August 2004 in Istanbul Faculty of Medicine in Turkey. The majority of the isolates were from blood and urine specimens. Antimicrobial susceptibilities were determined by the agar dilution procedure and the resistance phenotypes by the double disk induction test. A multiplex PCR was performed, using primers specific for erm(A), erm(B), erm(C), and msrA genes.. Among the 78 CNS isolates, 57.8% expressed the $MLS_{B}-constitutive$, 20.6% the $MLS_{B}-inducible$, and 21.6% the $MS_B$ phenotypes. By PCR, 78.2% of these isolates harbored the erm(C) gene, 8.9% erm(A), 6.4% erm(B), and 11.5% msrA genes. In S. aureus, the constitutive $MLS_B$ (58.3 %) was more common than the inducible phenotype (20.8%). erm(A) was detected in 50% and erm(C) in 62.5% of the isolates, while 37.5% contained both erm(A) and erm(C). erm(C)-associated macrolide resistance was the most prevalent in CNS, while ermC) and erm(A, C) was the most prevalent in S. aureus.