{"title":"A Novel Pathogenic Variant of COL4A1 Gene in a Patient with Neuropathy: A Case Report","authors":"Sajad Rafiee Komachali, Khalil Khashei Varnamkhasti, S. Mousavi, Farzaneh Salimi, Mansoor Salehi","doi":"10.7575/aiac.abcmed.v.10n.2p.7","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.2p.7","url":null,"abstract":"Background: Neuropathies a result of damage to the peripheral nerves are a heterogeneous group of diseases which may occur due to underlying genetic abnormalities. Exciting capabilities of the whole exome sequencing to detect disorders at the level of genome, especially in heterogeneous disorder groups, made it easy to determine which of the genetic variation disease causing in an individual patient. This paper reports a novel COL4A1 gene variation that was found in a case with para-clinical diagnosis of neuropathy, following molecular analysis. Case presentation: We report a 54 year-old man from the Al-Zahra Hospital, Isfahan University of Medical Sciences admitted to genome genetic center with para-clinical diagnosis of neuropathy based on electromyography. Further molecular analysis of patient genomic DNA using whole exome sequencing, revealed a heterozygous COL4A1 pathogenic variant NM_001303110: c.A1G: p.M1V. The result verified by Sanger Sequencing.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71367673","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}
Badr Chalouah, B. Mohamed, E. Kamal, Bennis Azzelarab, Z. Omar, Zine Ali, Tanane Mansour, B. Salim
{"title":"20 Years’ Experience in Treating Kienbock’s Disease: About 15 Cases and Review of Literature","authors":"Badr Chalouah, B. Mohamed, E. Kamal, Bennis Azzelarab, Z. Omar, Zine Ali, Tanane Mansour, B. Salim","doi":"10.7575/aiac.abcmed.v.10n.2p.10","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.2p.10","url":null,"abstract":"Kienböck’s disease is a rare condition. It affects young adults who are mostly manual workers. Radiology allows diagnosis and classification of the disease using the Lichtman classification which will guide the therapeutic strategy. The aim of the present work is to review the clinical data, recent advances in assessment methods (MRI and arthroscopy) and our therapeutic results compared to the literature. Material and methods: This is a retrospective study of fifteen cases of Kienböck’s disease, collected in the Traumatology-Orthopaedics Department I of the Mohamed V Military Hospital in Rabat, Morocco, over a 20 years period, from 2001 to 2020. This study included 10 men and 5 women, with an average age of 29 years. All of our patients underwent plain radiographs that allowed diagnosis and staging. Only 6 patients benefited from MR imaging and none of them had cartilage arthroscopic assessment. Radial shortening osteotomy were performed for 14 patients and lunate decompression by forage for one patient with good results in 53% and 14% of poor results. Discussion: Comparing the results of our study with those of the literature, we found concordance regarding clinical, radiological and therapeutic methods. However, this study has shown insufficient use of MRI for viability evaluation of the lunate and cartilage arthroscopic assessment, due in first place to their high cost for developing countries as ours. Thus, treatment choices weren’t accurate enough, which explains our 47% poor to fair results. Conclusion: Kienböck’s disease is a rare condition that should be early diagnosed with accurate staging using recent advances in assessment methods which allows proper treatment choices to prevent its evolution toward total destruction of the wrist. However, patient’s desires and needs, surgeon’s experience and capabilities of their facilities precondition the final decision.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45485890","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}
{"title":"Evaluation of Salivary Level of Resistin in Patients with Chronic Periodontitis","authors":"Solmaz Pourzare Mehrbani, Farzaneh Pakdel, Masoumeh Faramarzi, P. Motahari, Parisa Khalifeh, Leili Aghebati Maleki","doi":"10.7575/aiac.abcmed.v.10n.1p.12","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.12","url":null,"abstract":"In periodontology, clinical criteria are usually not sufficient to distinguish the presence of active disease, monitoring response to treatment, or assess disease progression. Studies have shown that resistin is involved in the etiology of periodontitis. The purpose of this paper was to assess the salivary resistin levels in patients with chronic periodontitis (CP). In this case-control study the saliva samples were collected from 45 patients with CP and 45 age- and sex-matched healthy individuals. Salivary resistin was determined by ELISA method. The results were analyzed by Mann-Whitney test. The software used in this study was SPSS 17. P value less than 0.05 was considered significant. In this study, the mean salivary resistin level was 0.769 (+0.396) ng/ml in the patients group and 0.145 (+0.068) ng/ml in the healthy group, with a significant difference (P 0.05). The results of this research showed that the salivary levels of resistin in patients with CP are higher than in healthy individuals and salivary resistin can be considered as a marker in the pathogenesis, early diagnosis and determination of the inflammatory status of CP.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45811496","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}
{"title":"Biomarkers for early diagnosis and management of cardiovascular diseases","authors":"Ravi Adusumalli","doi":"10.7575/aiac.abcmed.v.10n.1p.16","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.16","url":null,"abstract":"In the last two decades, there has been a significant increase in interest in cardiovascular biomarkers for early diagnosis, primary disease control, and management. This has been fueled by the importation of advanced gene technology for the identification of novel biomarkers, as well as a better understanding of disease pathophysiology. This article provides a thorough examination of available biomarkers as well as their evaluation. A growing number of biomarkers are being used to assess the risk of cardiovascular disease (CVD) and to improve primary prevention. However, clinicians face a difficult task in evaluating and identifying appropriate biomarkers and when they should be used. Since the turn of the century, researchers have been examining the capabilities and limitations of novel biomarkers in the management of CVD. These studies show that much work remains to be done in order to identify novel biomarkers that are more precise and cost-effective for use in early heart disease prevention.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41326372","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}
C. Gholipouri, H. Soleimanpour, Sahar Rafraf, N. Gilani, Saina Gholipouri, K. Shahsavarinia
{"title":"Outcome and Complications of Rectal Tube Placement in Intestinal Obstruction Due to Sigmoid Volvulus","authors":"C. Gholipouri, H. Soleimanpour, Sahar Rafraf, N. Gilani, Saina Gholipouri, K. Shahsavarinia","doi":"10.7575/aiac.abcmed.v.10n.1p.7","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.7","url":null,"abstract":"Background: The most common site of colon volvulus is in the sigmoid colon and then in the cecum and transverse colon. The aim of this study was to evaluate the results of the rectal tube placement as an initial treatment for devaluation of sigmoid volvulus. Materials and Methods: In this cross-sectional study, 60 patients with sigmoid volvulus admitted to the emergency department of Imam Reza and Sina Teaching Hospitals due to intestinal obstruction were undergone blind rectal tube placement. After discharge, patients were followed up in two 1 month and 6 months intervals, so the rate of recovery, relapse, or mortality of the patient (in case of the patient’s death) were investigated. Results: Of the 60 patients reported, 41 patients (68.3%) were male, 54 patients (90%) the operation was successful and the patient was devaluated, but in the remaining 6 patients (10%) the operation was not successful and the patient immediately underwent an operation. The number of attempts to devaluation of patients with the rectal tube was once in 50 patients (83.3%), twice in 2 cases (3.3%) and three times in 8 cases (13.3%). The rate of hospitalization after surgery (in patients who had undergone surgery) was 6.44 ± 0.9 days. The overall rate of hospitalization in patients with sigmoid volvulus with initial treatment by rectal tube placement to devaluation was 5.78 ± 0.96 day. Conclusion: We suggested that rectal tube placement is less costly and available procedure in the treatment of patients with sigmoid volvulus.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41819734","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}
{"title":"The Heart was Hungrier than the Brain: Hypoglycemia-induced Ventricular Tachycardia in a Conscious Diabetic Patient","authors":"Navgeet Mathur, M. Mathur, A. Verma","doi":"10.7575/aiac.abcmed.v.10n.1p.30","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.30","url":null,"abstract":"This case report is about a 58 years old male diabetic patient presented multiple times at outdoor (OPD) for routine follow up of diabetes always in asymptomatic, fully conscious, and oriented condition, and on multiple occasion of his OPD visit, he was found to have ventricle tachycardia (VT) on ECG with concurrent hypoglycemia (blood sugar 60 mg/dl). No antiarrhythmic treatment was needed because ventricle tachycardia subsided immediately after correction of hypoglycemia on each and every time he is having it, thus favoring hypoglycemic etiology of VT. Every time patient was having documented hypoglycemia, his heart always showed concurrent VT but the brain never showed altered consciousness or disorientation. It seems like his heart was more hungry than his brain. After an extensive search, no similar case report was found having only isolated VT at each and every episode of documented hypoglycemia. Glucose is the main fuel for the human brain. Higher mental functions were well tolerant to hypoglycemia but his heart used to respond quickly in form of VT.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48668595","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}
Hui Xie, Li Li, S. Richard, Zhigang Lan, Yuekang Zhang
{"title":"Cerebellopontine angle metastatic melanoma mimicking schwannoma in a sexagenarian: Case report","authors":"Hui Xie, Li Li, S. Richard, Zhigang Lan, Yuekang Zhang","doi":"10.7575/aiac.abcmed.v.10n.1p.33","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.33","url":null,"abstract":"Introduction: Metastasis of melanomas to the cerebellopontine angle (CPA) are very rare. Dissemination via blood, cerebrospinal fluid and/or leptomeninges may be the principal pathway for metastatic spread of malignant melanomas to the CPA. Case presentation: A 68-years old man presented with two years history of hearing lost in the right ear with associated dizziness and headaches. A skin lesion was seen on the patient’s right forearm. MRI revealed a nodular abnormal signal intensity at the right CPA which was resected and pathology revealed metastatic melanoma. Conclusion: Aggressive treatment regime comprising of a combination of surgery, chemotherapy and radiotherapy is very efficacious in prolonging the survival of patients with metastatic melanomas to the brain especially the metastasis to the CPA.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43635345","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}
{"title":"Comparison of the Effectiveness of Fernald’s Sensory Method and Educational Games on Writing Disorder in Elementary School Students","authors":"Parviz Karimi Thani, N. Koohzad, Farideh Ahmadi","doi":"10.7575/aiac.abcmed.v.10n.1p.1","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.1","url":null,"abstract":"The present study used a quasi-experimental research method with pretest-posttest research with a control group to show the effectiveness of Fernald’s multisensory method and educational games on writing disorder in elementary school students. The statistical population of this study consisted of all students with writing problems in Shabestar in the 98-99 academic year who were studying. 30 people were selected as the sample (the first 10 people in the experimental group of Fernald’s multisensory method, the second 10 people in the experimental group of educational games and the third 10 people in the control group) who were randomly selected from among students with writing difficulties in three (First experimental group, second experimental group and control group) were included. Data collection tools included Fernald’s multisensory method and educational games and the Colorado Learning Disabilities Questionnaire. Covariance analysis method was used to analyze the research hypotheses using SPSS.23 software. According to the results of analysis of covariance, Fernald’s multisensory educational method has the greatest effect on students’ writing disorder.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48193228","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}
{"title":"Magnification in Dental Ergonomics – A Comprehensive Review","authors":"Harpreet Kaur, Vandana A. Pant, Vandana Gupta","doi":"10.7575/aiac.abcmed.v.10n.1p.21","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.21","url":null,"abstract":"Work related health hazard in dental professionals is increasing rapidly nowadays in all specialty of dentistry. Among various known disorders, musculoskeletal disorder is the most prevailing among dentists all over the world and more so in developing countries. Prolonged inappropriate postures can lead to cervical and spinal pain resulting in reduced efficiency of the clinician. Various guidelines and measurers have been introduced time to time to improve the working pattern but still it hasn’t been tackled appropriately. To overcome the problem of musculoskeletal disorder, fruitful application of ergonomics in the form of various magnifying loupes should be introduced aiming to reduce the illness and injury of muscles and increased satisfaction and better efficacy amongst dental clinicians.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43614107","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}
{"title":"Index Finger Pollicization for Hypoplasia of the Thumb","authors":"M. Benchakroun, R. Salah, S. Bouabid","doi":"10.7575/aiac.abcmed.v.10n.1p.26","DOIUrl":"https://doi.org/10.7575/aiac.abcmed.v.10n.1p.26","url":null,"abstract":"Pollicization of the index finger has been the subject of several publications; it occupies an interesting place in the restoration of the handgrip. Although it is still suffering from some technical insufficiencies, we were able to achieve a pollicization of the index finger on a 54 years old woman. The results were very satisfactory. We report in this work the surgical technique used, with an update on the various existing techniques.","PeriodicalId":92322,"journal":{"name":"Advances in bioscience and clinical medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45424468","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}