Omarmel V, Sharafshah A, Lewandrowski Kai-Uwe, Assefi M
{"title":"A New De Novo Mutation in Htra1 Gene Associated With Painful Ataxia, Developmental Delay, and Autistic Behaviors Symptoms in An Iranian Boy Through Whole Exome Sequencing Followed by Homology Modeling","authors":"Omarmel V, Sharafshah A, Lewandrowski Kai-Uwe, Assefi M","doi":"10.47829/acmcr.2023.101905","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101905","url":null,"abstract":"1.1. Introduction: Due to the insufficiency of understanding about Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in general clinical studies, the process of diagnosis for most CADASIL patients is complex and often prolonged. The disease’s symptomatic heterogeneity, which happens frequently even among family members, increases the complexity of diagnosis. 1.2. Methods: In vitro analysis was carried out by Whole Exome Sequencing (WES) for a 2-year-old boy. He had ataxia, developmental delay, delayed speech and language development, and autistic behaviors. Mutational confirmations were also done on both of his parents to find the genotypes. Also, bioinformatics predictions were performed by SWISS-MODEL, ProSA, Molprobity, and superimposition through MatchMaker in Chimera ver. 1.16.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127418238","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 Use of Essential Oils - Alpha and Β-Pinene in the Treatment of Covid-19","authors":"A. A, A. J","doi":"10.47829/acmcr.2021.7903","DOIUrl":"https://doi.org/10.47829/acmcr.2021.7903","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"55 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127708174","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 Physics of Darwinian Evolution","authors":"Kleinman A","doi":"10.47829/acmcr.2023.102308","DOIUrl":"https://doi.org/10.47829/acmcr.2023.102308","url":null,"abstract":"This paper describes the physical (thermodynamic) laws that govern Darwinian Evolution. When one understands how to apply these laws of physics, it becomes clear how clinical, experimental, and empirical examples of Darwinian Evolution behave the way they do. In particular, this paper shows which thermodynamic laws need to be applied to model and describe the evolution of antimicrobial drug resistance and the diversification of cancer cells.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130019339","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}
Inam M, Ullah S, Khan I, Zaman R, Ali MA, Shabir M
{"title":"Frequency of Pin Tract Infection Among Patients with Tibia Fracture Treated with AO External Fixator","authors":"Inam M, Ullah S, Khan I, Zaman R, Ali MA, Shabir M","doi":"10.47829/acmcr.2023.101901","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101901","url":null,"abstract":"110 patients were enrolled with mean age of 36.7±11.5 years. There were 56.4% males and 43.6% female patients. Mean duration of injury was 14.6±7.6 hours. Hypertension was present in 30.9% patients. Diabetes was present in 16.4% patients. Smoking was present in 36.4% patients. Obesity was present in 41.6% patients. Pin tract infection was present in 16.4% patients.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130352677","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":"Metastatic Adrenocortical Carcinoma Presenting as Intracavitary Mass in Right Atrium: A Case Report","authors":"N. A, Sadiq R, Zafar S","doi":"10.47829/acmcr.2022.81103","DOIUrl":"https://doi.org/10.47829/acmcr.2022.81103","url":null,"abstract":"1.1. Background: Adrenocortical carcinomas grow rapidly and tend to metastasize to liver and lungs and invade kidney, renal vein and Inferior vena cava (IVC). Cardiac metastases of the tumor is rare, less than 20 cases have been described and most of them occurred via direct extension through inferior vena cava into right atrium [1]. Endocardial Metastases from adrenocortical carcinoma presenting as an intracavitary growth in right atrium of heart without associated IVC involvement is very rare. 1.2. Case Presentation: We describe a case of 20 years old young male who presented to emergency with gradual worsening of dyspnea and facial swelling for last 6 months. Echocardiography showed a large Right atrial mass filling the whole chamber, attached to IAS (interatrial septum) via thin stalk suggestive of right atrial myxoma. Patient underwent resection of myxoma and histopathology proved it to be metastatic adrenocortical neoplasm. Whole body contrast enhanced CT scan showed primary large soft tissue mass lesion in right suprarenal location with metastatic bilateral lung metastases. On biochemical investigation associated hypercortisolemia was found. 1.3. Conclusion: Usually renal cell carcinomas spread intraluminally via inferior vena cava into the right atrium (reported in 1 % of tumors). Intracavitary presentation of metastatic adrenocortical carcinoma is very rare, and index case report was a similar presentation of a young male that underwent resection of intracavitary growth of right atrium (suspected as Myxoma), that came out to be metastatic adrenocortical carcinoma. In patients with advanced local or metastatic adrenocortical carcinomas, not amenable to surgical resection, cytotoxic chemotherapy may be attempted.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"31 9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131991331","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}
Arthur dos Santos Sena, Adolpho de Barros e Silva de Oliveira, Maria Carolina Santos Malafaia Ferreira, Duílio Cabral da Costa Neto, César Freire de Melo Vasconcelos, Wolfgang William Schmidt Aguiar
{"title":"Thymectomy in Red Cell Aplasia - A Case Report","authors":"Arthur dos Santos Sena, Adolpho de Barros e Silva de Oliveira, Maria Carolina Santos Malafaia Ferreira, Duílio Cabral da Costa Neto, César Freire de Melo Vasconcelos, Wolfgang William Schmidt Aguiar","doi":"10.47829/acmcr.2023.102102","DOIUrl":"https://doi.org/10.47829/acmcr.2023.102102","url":null,"abstract":"1.1. Background: Pure Red Cell Aplasia (PRCA) is a very rare syndrome responsible for severe anemia due to absence or significant reduction of erythroid precursors in the bone marrow. It’s etiology is variable, ranging from a congenital disease to an acquired one. Secondary acquired PRCA may be associated with several conditions, including Thymic Tumors. 1.2. Case Presentation: A 42-year-old male presented to the Internal Medicine department with constitutional symptoms: non-intentional weight-loss, palpitations, somnolence. Clinical investigation showed a severe normocytic normochromic anemia, with significant reticulocytopenia. Due to clinical status, several blood transfusions were needed. Further investigation with bone marrow biopsy showed intact precursors for platelets and leukocytes, with absence of erythroid precursors; the primary diagnostic hypothesis was Pure Red Cell Aplasia, with no etiology well defined, however. In order to rule out other conditions, imaging scans were performed; the chest CT showed a large mediastinal expansive formation, compatible with Thymoma. Patient was submitted to Thymectomy by the Thoracic Surgery team, with posterior improvement of clinical and hemodynamic status. Even so, for definitive remission of the PRCA, a bone marrow transplant was needed. The patient was successfully treated and remains healthy so far.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"52 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134225848","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":"Frequency of Acute Compartment Syndrome in Closed Fractures of the Limbs","authors":"Inam M, Hasbiallah Khan I, Shabir M, Ali MA","doi":"10.47829/acmcr.2023.102203","DOIUrl":"https://doi.org/10.47829/acmcr.2023.102203","url":null,"abstract":"Acute compartment syndrome is a surgical emergency requiring in time management otherwise complications which may lead sever discomfort or to loss of limb can occur. In a study it has been found that acute compartment syndrome is present in 87 (7.73 %) of all tibial diaphyseal fractures with no significant difference in incidence of acute compartment syndrome in type of fractures. Result of this study can be used to find the magnitude of this emergency condition in patient with fracture and the pre planning for such condition","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133843289","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}
Omarmeli V, Assefi M, Sharafshah A, Darabi P, Lewandrowski KU
{"title":"Genetic Work-Up for the Rare New Mutations Causing Musculoskeletal and Spine Pain","authors":"Omarmeli V, Assefi M, Sharafshah A, Darabi P, Lewandrowski KU","doi":"10.47829/acmcr.2023.101903","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101903","url":null,"abstract":"1.1. Background: Spine pain is widespread due to degenerative disc disease and facet arthropathy. Most patients improve with supportive conservative care measures, including non-steroidal anti-inflammatories, physical therapy, short episodes of rest, and activity modification. Medical and interventional pain management is reserved for those patients who do not improve within 4 to 6 weeks of standard spine care managed within the primary care setting, after which patients are typically referred to a specialist. Genetic conditions are rarely considered early in the differential diagnosis and may be easily missed in non-responsive patients. 1.2. Methods: We briefly de-scribe two illustrative cases of patients with a history of chronic musculoskeletal and spinal pain, whose delayed diagnosis led to improper utilization of medical resources until they were diagnosed correctly and targeted personalized care for their painful syndromes could be instituted.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"107 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125141978","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}
Mansouri N, Omarmeli V, Sharafshah A, Assefi M, Tomlinson T, Lester K, Browning Z, Lewandrowski KU
{"title":"Investigation of Methylation Levels in COMT Gene Promoter among Smokers and Opium Addicted Individuals Undergoing Methadone Treatment","authors":"Mansouri N, Omarmeli V, Sharafshah A, Assefi M, Tomlinson T, Lester K, Browning Z, Lewandrowski KU","doi":"10.47829/acmcr.2023.101904","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101904","url":null,"abstract":"1.1. Background: Previous studies have demonstrated that the COMT gene is associated with alcohol, nicotine, and illicit substances. The aim of the present study was to examine the methylation status of a remarkable region in the COMT gene promoter in methadone-treated smokers and addicts. Methods: All male samples, including 30 smokers, 30 opium addicts receiving methadone treatment, and 30 healthy individuals, had their DNAs extracted from their whole blood and processed with a sodium bisulfite kit. 61 CpG dinucleotides were included in the study region and were sequenced.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134144918","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}
Mansouri N, Omarmeli V, Sharafshah A, Assefi M, Lewandrowski KU
{"title":"Investigation of Methylation Levels in OPRK1 Gene Promoter among Smokers and Opium-Addicts underwent Methadone Maintenance Treatment","authors":"Mansouri N, Omarmeli V, Sharafshah A, Assefi M, Lewandrowski KU","doi":"10.47829/acmcr.2023.101902","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101902","url":null,"abstract":"1.1. Background: Previous studies reported the association of the OPRK1 gene with illicit substances, nicotine, and alcohol. The present study aimed to look at the methylation levels of OPRK1 gene promoter among smokers and addicts who underwent methadone maintenance treatment (MMT). 1.2. Methods: DNAs were extracted from the whole blood of all male samples including 30 smokers, 30 opium-addicted individuals undergoing methadone treatment, and 30 healthy people, and they were treated with a sodium bisulfite kit. The studied region included 53 CpG dinucleotides investigated by sequencing technique. 1.3. Results: Results of methylation levels in addicted individuals who underwent MMT compared with healthy people showed no difference. Also, there was no change in any CpG sites of OPRK1 gene promoter in both smokers and compared healthy controls","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132952318","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}