Advances in bioscience and clinical medicine最新文献

A Study of BRCA1 Gene Exon 2 Mutation in Bangladeshi Female Breast Cancer Patients 孟加拉国女性癌症患者BRCA1基因外显子2突变的研究

Advances in bioscience and clinical medicine Pub Date : 2022-10-31 DOI: 10.7575/aiac.abcmed.v.10n.4p.1

Jayasree Basu, Zinnat Ara Yesmin, T. Hossain, Rayhan Shahrear

{"title":"A Study of BRCA1 Gene Exon 2 Mutation in Bangladeshi Female Breast Cancer Patients","authors":"Jayasree Basu, Zinnat Ara Yesmin, T. Hossain, Rayhan Shahrear","doi":"10.7575/aiac.abcmed.v.10n.4p.1","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.4p.1","url":null,"abstract":"Background: Breast cancer is the most common malignancy and leading cause of death among women in Bangladesh. Mutations in BRCA genes increase the risk for breast cancer. A large number of distinct mutations and polymorphisms in the BRCA1 gene have been reported worldwide, a frameshift mutation in BRCA1 gene exon 2 (185delAG) is one of the commonly reported mutations. Therefore, the study was planned to determine the frequencies of mutation and polymorphisms in BRCA1 gene exon 2. Materials and Methods: A cross-sectional descriptive type of study was done on 100 adult Bengali Bangladeshi female patients with ductal carcinoma of breast of age range between 25 to 70 years by ‘selection checklist.’ Genomic DNA was isolated from the peripheral blood samples. Amplification of the desired sequence of BRCA1 exon 2 was checked in gel and then digested with restriction endonuclease enzyme (Hinfl). The fragments obtained were analyzed on a gel and photographed under UV light. Sanger sequencing was done on 10 blood samples for confirmation. Sequenced data was analyzed by Geneious Software version 11. Results: The onset of cancer was predominantly below 50 years and 44% of patients did not experience menopause as they developed cancer at a younger age. Gel photographs after enzyme digestion showed wild-type bands of 149bp in all samples. The chromatogram reveals wild-type sequence of exon 2 of BRCA1 gene. Conclusions: BRCA1 mutation status helps us in the cancer risk prediction, selection of therapeutic management and genetic counseling of the patients and families. Therefore, it is necessary to study the whole BRCA1 gene in our population.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46760006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Raynaud’s Phenomenon as the Initial and Only Manifestation of Non-Hodgkin Lymphoma: A Case Report 雷诺现象是非霍奇金淋巴瘤的最初和唯一表现:1例报告

Advances in bioscience and clinical medicine Pub Date : 2022-10-31 DOI: 10.7575/aiac.abcmed.v.10n.4p.6

G. Parvathy, D.H.J.P.Uresha Lakshani, Asadullah Khan kakar, A. Maheshwari, K. Patel

引用次数: 0

A Rare and Underestimated, However, A Treatable Disease: Tarlov Cyst and Adhesive Arachnoiditis 一种罕见且被低估的可治疗疾病:塔洛夫囊肿和粘连蛛网膜炎

Advances in bioscience and clinical medicine Pub Date : 2022-10-31 DOI: 10.7575/aiac.abcmed.v.10n.4p.13

Lidia Sarnataro

{"title":"A Rare and Underestimated, However, A Treatable Disease: Tarlov Cyst and Adhesive Arachnoiditis","authors":"Lidia Sarnataro","doi":"10.7575/aiac.abcmed.v.10n.4p.13","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.4p.13","url":null,"abstract":"Tarlov cyst (TCs) is also called perineural cyst, which is a rare disease of the posterior nerve root prevalently localized in the lumbo-sacral region, however, it is also possible in every part of the spinal cord. These cysts represent a dilation of the nerve-root sheath that often communicate with subarachnoid space through a valve-like mechanism containing cerebrospinal fluid (CSF) and neural tissue. Tarlov cyst is often asymptomatic and discovered incidentally in the MRI, however, sometimes it can be symptomatic and is characterized by many symptoms, such as low back pain, sacral radiculopathy, sciatica, coccydynia or cauda equina syndrome, constipation, dyspareunia, urinary incontinence, and retention as well as blurry vision and headache. Moreover, these cysts can be a cause of CSF leak and therefore culprit of idiopathic intracranial hypotension. The etiopathogenesis is still unclear, but it is documented that a trauma, an old hemorrhage, and congenital and iatrogenic causes may be responsible for it. Association between the Tarlov cysts and the arachnoiditis have been studied in the last years. Tarlov cyst appears to be a consequence of the arachnoiditis. In general, there are four stages of arachnoiditis. In the last stage, it is possible that some patients cannot walk anymore becoming wheelchair bound. Moreover, arachnoiditis is often associated to type I ACM, syringomyelia and Ehlers-Danlos syndromes. Although Tarlov cyst has been known since 1938, the year in which Dr. Isador Max Tarlov described it first as an incidental finding in cadavers, nowadays many doctors do not really know this disease and underestimate it by thinking that it cannot be responsible for the above listed symptoms. The main aim of this work is to educate the medical community to consider Tarlov cyst in the differential diagnosis of back pain patients, and in other diseases. While the surgery represents the most effective therapy for such patients, a treatment of the arachnoiditis with the stem cells therapy should be also considered.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42139467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Stem Cells and their Extensive uses in Multiple Medical Fields and Especially in Neurological Diseases 干细胞及其在多种医学领域特别是神经系统疾病中的广泛应用

Advances in bioscience and clinical medicine Pub Date : 2022-07-31 DOI: 10.7575/aiac.abcmed.v.10n.3p.1

Lidia Sarnataro

{"title":"Stem Cells and their Extensive uses in Multiple Medical Fields and Especially in Neurological Diseases","authors":"Lidia Sarnataro","doi":"10.7575/aiac.abcmed.v.10n.3p.1","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.3p.1","url":null,"abstract":"Since they were first discovered and used in animal models in the 1950th, stem cells are assuming a key role in the research field. These types of cells are undifferentiated cells deriving from a single cell that is able of a clonal proliferation differentiating into different cells and tissues. It is possible to classify them into two main groups considering their main features. Moreover, speaking about stem cells, it is important to mention the key role of some small non-coding RNA molecules also known MiRNAs (microRNAs) in the cell cycle regulation. Generally, stem cells are very useful in cellular therapy helping the regeneration of entire organs. They also allow a deep understanding of development and pathogenesis of many diseases and are useful in drug development. In general, the aim of this article is to talk about stem cells and their uses in multiple medical fields and especially in neurological diseases. A comprehensive explanation of stem cell classification and miRNAs role in the cell cycle regulation of these cells in clinical application as well as gene alterations in some diseases is included. And finally, very interesting stem cell research will be also discussed. Unfortunately, studies on adhesive arachnoiditis, a rare neurological disease mostly associated to Tarlov cysts (TC), are still few. In addition, other associations between arachnoiditis and Chiari malformation, as well as syringomyelia and ACM, have been found. And, finally, association between idiopathic intracerebral hypertension and arachnoiditis granulations (AGs) were also demonstrated.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45443023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ring Avulsion Injuries: About Three Cases And Review of the Literature 环撕脱伤:三例及文献复习

Advances in bioscience and clinical medicine Pub Date : 2022-07-31 DOI: 10.7575/aiac.abcmed.v.10n.3p.20

Naoufal El Ghoul, R. Salah, O. Zaddoug, A. Bennis, A. Zine, M. Benchakroun, M. Tanane, S. Bouabid

引用次数: 1

Revisions of Total Hip Prostheses: About 03 Cases and Review of the Literature 全髋关节假体修复:03例及文献复习

Advances in bioscience and clinical medicine Pub Date : 2022-07-31 DOI: 10.7575/aiac.abcmed.v.10n.3p.16

Youness Mokhchani, Rachdi Abderrafia, Abdelhay Rabbah, Jalal Boukhriss, B. Chafry, M. Boussouga

引用次数: 0

A Massive Gastric Trichobezoar In a Young Female, a Case Report 1例年轻女性大量胃毛癣1例

Advances in bioscience and clinical medicine Pub Date : 2022-07-31 DOI: 10.7575/aiac.abcmed.v.10n.3p.24

Basem R. Badwan, Shadi Awad, M. Al-Share, Mohammad Abu-Jeyyab, Hanan Al-Asbahi, Michleen Al-Awabdeh, Maysaa Al-Khalaileh

引用次数: 0

Metaplastic Carcinoma of the Breast, A Case Study 乳腺Metaplastic癌一例

Advances in bioscience and clinical medicine Pub Date : 2022-04-30 DOI: 10.7575/aiac.abcmed.v.10n.2p.15

M. Al-Share, Hanan Al-Asbahi, Michleen Al-Awabdeh, Maysaa Al-Khalaileh, Mohammad Abu-Jeyyab

引用次数: 0

Rare Case of a Doubly Complicated Clavicle Fracture in a Cyclist 罕见的骑车者双重复杂锁骨骨折病例

Advances in bioscience and clinical medicine Pub Date : 2022-04-30 DOI: 10.7575/aiac.abcmed.v.10n.2p.4

R. Salah, Naoufal El Ghoul, Kamal El Mokhtari, A. Bennis, O. Zaddoug, M. Benchakroun, A. Zine, M. Tanane, S. Bouabid

引用次数: 0

Male Breast Cancer After a 20 Years of Treated Testicular Cancer, A Case Report 睾丸癌治疗20年后的男性乳腺癌一例报告

Advances in bioscience and clinical medicine Pub Date : 2022-04-30 DOI: 10.7575/aiac.abcmed.v.10n.2p.1

M. Al-Share, Mohammad Abu Jeyyab

引用次数: 0