• Title/Summary/Keyword: genetic alteration

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Correlation of Hormone Receptor and HER-2/neu Expression with Clinicopathologic Parameters in Primary Breast Tumors

  • Shaikh, Fouzia;Jamal, Qamar;Baig, Saeeda;Hadi, Naila Irum;Majeed, Noman
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.7
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    • pp.3363-3367
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    • 2016
  • Background: Breast cancer (BC) is a major health issue worldwide as well as in Pakistan. All women belonging to any race, ethnicity or lineage are in danger of developing breast cancer. Significant factors influencing the development of breast malignancies are the genetic background, environmental conditions, reproductive parameters, the consequences of female hormones both intrinsic and extrinsic, alteration of immune status, and biologic determinants. Materials and Methods: Overall 150 biopsy proven patients were included in the study. Samples were submitted for histopathology and determination of estrogen and progesterone receptor expression and HER-2/neu status. Associations with other characteristics like age, tumor stage, node involvement, histological grade were also studied. Results: Mean age at presentation was 46.7 years. The majority had invasive ductal carcinoma, 100 (84.7%), and were in stage pT3, 54 (45.7%). Important relationships (P<0.05) were found among ER, PR positivity, and Her 2 neu overexpression. However, no noteworthy link was identified amongst ER, PR, Her 2 neu and tumor grade, stage, age, lymph node involvement except for the menopausal status. Conclusions: In summary, breast cancer patients featured an advanced stage of disease, more lymph node involvement, and moderately high grade tumors and with more estrogen, progesterone receptor and HER-2 positive tumors.

Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation

  • Rho, Eun Sam;Kim, Earl;Koh, Hong;Yoo, Han-Wook;Lee, Beom Hee;Kim, Gu-Hwan
    • Clinical and Experimental Pediatrics
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    • v.56 no.5
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    • pp.227-230
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    • 2013
  • Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease inhibitor, Kazal type 1 (SPINK1), cationic trypsinogen (PRSS1), and cystic fibrosis-transmembrane conductance regulator (CFTR ) genes, or with structural disorders in the pancreaticobiliary ductal system, such as pancreatic divisum or anomalous pancreaticobiliary ductal union (APBDU). However, it is unusual to observe both genetic alteration and structural anomaly. Here, we report 2 cases with both APBDU and a mutation in the SPINK1 genes, and we discuss the implications of these findings in clinical practice.

Fragile-X Mental Retardation: Molecular Diagnosis in Argentine Patients

  • Florencia, Giliberto;Irene, Szijan;Veronica, Ferreiro
    • BMB Reports
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    • v.39 no.6
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    • pp.766-773
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    • 2006
  • Fragile-X-syndrome (FXS) is the most common type of inherited cognitive impairment. The underlying molecular alteration consists of a CGG-repeat amplification within the FMR-1 gene. The phenotype is only apparent once a threshold in the number of repeats has been exceeded (full mutation). The aim of this study was to characterize the FMR-1 CGG-repeat status in Argentine patients exhibiting mental retardation. A total of 330 blood samples from patients were analyzed by PCR and Southern blot analysis. Initially, DNA from 78 affected individuals were studied by PCR. Since this method is unable to detect high molecular weight alleles, however, we undertook a second approach using the Southern blotting technique to analyze the CGG repeat number and methylation status. Southern blot analysis showed an altered pattern in 14 out of 240 (6%) unrelated patients, with half of them presenting a mosaic pattern. Eight out of 17 families (47%) showed a (suggest deleting highlight). The characteristic FXS pattern was identified in 8/17 families (47%), and in 4 of these families 25% of the individuals presented with a mosaic model. The expansion from pre-mutation to full mutation was shown to occur both at the pre and post zygotic levels. The detection of FXS mutations has allowed us to offer more informed genetic counseling, prenatal diagnosis and reliable patient follow-up.

Bleeding & Infection Control by the Circumferential Suture & Drainage on Active Bleeding Extraction Socket under Sedation And Local Anesthesia in a Multiple Medically Compromised Patient with Anticoagulation Drug (항응고제 투여중인 다발성 전신질환자에서 과도한 발치창 출혈부의 진정요법과 국소마취 시행하에 창상주위 봉합과 배농술 통한 출혈과 감염조절)

  • Yoo, Jae-Ha;Kim, Jong-Bae
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.11 no.2
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    • pp.177-182
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    • 2011
  • There are five principal causes for excessive bleeding in the immediate postextraction phase ; (1) Vascular wall alteration (wound infection, scurvy, chemicals, allergy) (2) Disorders of platelet function (genetic defect, drug-aspirin, autoimmune disease) (3) Thrombocytopenic purpuras (radiation, leukemia), (4) Inherited disorders of coagulation (hemophilia, Christmas disease, vitamin deficiency, anticoagulation drug-heparin, coumarin, aspirin, plavix). If the hemorrhage from postextraction wound is unusually aggressive, and then dehydration and airway problem are occurred, the socket must be packed with gelatine sponge(Gelfoam) that was moistened with thrombin and wound closure & pressure dressing are applied. The thrombin clots fibrinogen to produce rapid hemostasis. Gelatine sponges moistened with thrombin provide effective coagulation of hemorrhage from small veins and capillaries. But, in dental alveoli, gelatine sponges may absorb oral microorganisms and cause alveolar osteitis (infection). This is a case report of bleeding and infection control by the circumferential suture and iodoform gauze drainage on infected active bleeding extraction socket under sedation and local anesthesia in a 71-years-old male patient with anticoagulation drug.

Patterns of Aquaporin 7 Expression in Normal Follicles and Follicular Cyst Follicles of Hanwoo (한우의 정상 난포와 난포낭종 난포에서 Aquaporin7 발현 양상)

  • Kim, Chang-Woon;Han, Sunkyu;Choe, Changyong
    • Journal of Embryo Transfer
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    • v.30 no.1
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    • pp.17-21
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    • 2015
  • Alteration in ion channel or transporter expression levels affects cell volume which is produced by movement of water and ion across the plasma membrane. In particular, aquaporin (AQP) channels among ion channels play a crucial role in movement of water across the cell membrane. This study was performed to identify whether AQP expression is changed in bovine follicular cystic follicles using microarray, RT-PCR and Western blotting analyses. In microarray data, AQP4 expression was decreased, whereas AQP7 was increased in cystic follicles. Additional experiments were focused on the AQP7 expression increased in cystic follicles. The microarray data was confirmed by semi-quantitative polymerase chain reaction (PCR) and Western blot analysis. AQP7 mRNA and protein expressions were significantly increased in the cystic follicles (p<0.05). Application of estrogen ($10{\mu}g/ml$) to bovine ovarian cells showed a trend of increase in AQP7 expression. From these results, we suggest that the increase in AQP7 expression in cystic follicles may play an important role in movement of water in bovine ovary. In addition, AQP7, a aquaglyceroporin permeating water and glycerol, could be a good target in development of methods for the cryopreservation of bovine ovary.

Perspective on the Role of Mitochondrial Dynamics in the Nervous System Development (미토콘드리아의 구조적 역동성의 신경계 발생 과정 기능 고찰)

  • Cho, Bong-Ki;Sun, Woong
    • Development and Reproduction
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    • v.13 no.1
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    • pp.13-23
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    • 2009
  • Recent advances in cell biological and genetic researches have revealed that mitochondrial morphology is highly dynamic and regulated by multiple molecular factors including dynamin-related proteins (DRPs). Considering that the mitochondria play critical roles in the cellular metabolism via ATP synthesis, calcium homeostasis in cooperation with endoplasmic reticulum, and apoptosis, the failure of mitochondrial dynamics is infrequently related to the failure in the normal growth and cellular integrity. In this respect, alteration of mitochondrial dynamics may greatly affect the development of nervous system. In this short review, we discussed molecules involved in the control of mitochondrial dynamics, and provide some perspectives on their significance in the neuronal development.

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Lung Cancer Staging and Associated Genetic and Epigenetic Events

  • Kim, Dohun;Lee, You-Soub;Kim, Duk-Hwan;Bae, Suk-Chul
    • Molecules and Cells
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    • v.43 no.1
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    • pp.1-9
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    • 2020
  • The first step in treating lung cancer is to establish the stage of the disease, which in turn determines the treatment options and prognosis of the patient. Many factors are involved in lung cancer staging, but all involve anatomical information. However, new approaches, mainly those based on the molecular biology of cancer, have recently changed the paradigm for lung cancer treatment and have not yet been incorporated into staging. In a group of patients of the same stage who receive the same treatment, some may experience unexpected recurrence or metastasis, largely because current staging methods do not reflect the findings of molecular biological studies. In this review, we provide a brief summary of the latest research on lung cancer staging and the molecular events associated with carcinogenesis. We hope that this paper will serve as a bridge between clinicians and basic researchers and aid in our understanding of lung cancer.

Epigenetics: general characteristics and implications for oral health

  • Seo, Ji-Yun;Park, Yoon-Jung;Yi, Young-Ah;Hwang, Ji-Yun;Lee, In-Bog;Cho, Byeong-Hoon;Son, Ho-Hyun;Seo, Deog-Gyu
    • Restorative Dentistry and Endodontics
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    • v.40 no.1
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    • pp.14-22
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    • 2015
  • Genetic information such as DNA sequences has been limited to fully explain mechanisms of gene regulation and disease process. Epigenetic mechanisms, which include DNA methylation, histone modification and non-coding RNAs, can regulate gene expression and affect progression of disease. Although studies focused on epigenetics are being actively investigated in the field of medicine and biology, epigenetics in dental research is at the early stages. However, studies on epigenetics in dentistry deserve attention because epigenetic mechanisms play important roles in gene expression during tooth development and may affect oral diseases. In addition, understanding of epigenetic alteration is important for developing new therapeutic methods. This review article aims to outline the general features of epigenetic mechanisms and describe its future implications in the field of dentistry.

Immunohistochemical study of p53 and mdm-2 in Squamous Cell Carcinoma and Leukoplakia of Head and Neck. (두경부 편평상피세포암과 백반증에서 p53과 mdm-2의 면역조직화학적 연구)

  • 김용주;정환우;황찬승;양훈식
    • Korean Journal of Bronchoesophagology
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    • v.4 no.1
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    • pp.73-78
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    • 1998
  • The mutation of p53 is the most common genetic alteration found in human cancers and has oncogenic properties. mdm-2 is a recently discoverd that controls the p53 activity by binding of its protein, so negative feedback loop has been suggested in which p53 induces mdm-2 expression. The purpose of this study was to analyze the expression of p53 in leukoplakias, mdm-2 in squamous cell carcinomas, and relationship between p53 and mdm-2 expression in leukoplakias and squamous cell carcinomas. The results were as follows : 1) The p53 was expressed 33.4% in leukoplakias 2) The mdm-2 was expressed 8.3% in leukoplakias and 22.7% in squamous cell carcinomas. 3) The expression rate of p53 was higher in specimens negative for mdm-2 than in specimens positive for mdm-2, but there was not significant relationship between p53 and mdm-2 expression. In conclusion p53 was thought to participate in early phase of oncogenesis, and mdm-2 was thought to have a role as a oncogene in squamous cell carcinoma of head and neck. Though there was not significant relationship between p53 and mdm-2 expression, mdm-2 was thought to inhibit p53 activity.

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Intergenerics Nuclear Transfer Technology for Conservation of Endangered Species

  • Lee, B.C.;S.K. Kang;J.K. Cho;B. Bavister;W.S. Hwang
    • Proceedings of the Korean Society of Embryo Transfer Conference
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    • 2002.11a
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    • pp.56-62
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    • 2002
  • The International Union for Conservation of Nature and Natural Resources (IUCN) considers the western/lowland bongo Tragelaphus eurycerus eurycerus to be a threatened species, and the eastern/mountain bongo Tragelaphus eurycerus isaaci an endangered species[1]. Although extinction is considered by many biologists to be a natural process during evolution, the exponential growth of the human population has drastically and prematurely reduced the numbers and genetic diversity of many species[2]. Species have evolved to adapt to a specific habitat or environment that meet their survival needs. Alteration or destruction of their habitat results in a species becoming incapable of adapting and hence becoming threatened with extinction. A widespread scientific and public consensus has emerged suggesting that governments should assign high priority to the maintenance of biological diversity via habitat preservation and management far species conservation[3]. Unfortunately, the loss of biological diversity far surpasses the available conservation resources and species are lost forever on a daily basis[4]. Notwithstanding the focus on habitat preservation and wildlife management, conservation biologists have also become increasingly interested in using the technologies of reproductive and developmental biology to help manage or rescue endangered species[5].

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