Dmitrovskiy A, S. M, K. A., Ospanbekova N, K. K., M. S.
{"title":"Case of Anthrax Abdominal Form in Kazakhstan","authors":"Dmitrovskiy A, S. M, K. A., Ospanbekova N, K. K., M. S.","doi":"10.47829/acmcr.2021.71801","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71801","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"32 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":"133858876","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}
Faizmahdavi H, Omarmeli V, Lewandrowski KU, Sharafshah A, Assefi M
{"title":"A New Mutation in Fgfr1 Gene (P.M771i) With No Pathogenic Effect On Hearing Loss Found by Whole Exome Sequencing in an Iranian Family","authors":"Faizmahdavi H, Omarmeli V, Lewandrowski KU, Sharafshah A, Assefi M","doi":"10.47829/acmcr.2023.102001","DOIUrl":"https://doi.org/10.47829/acmcr.2023.102001","url":null,"abstract":"Objectives: Hearing loss, the second most frequent sensorineural impairment, could be associated with missense mutations in several genes involved in the development of hearing parts. The receptor tyrosine kinase fibroblast growth factor receptor 1 (FGFR1) is known to be expressed in the inner ear and plays an important role in the formation of auditory-sensory epithelium. There have been some reports of FGFR1 gene mutations causing hearing loss. Using Whole Exome Sequencing (WES), we identified a novel mutation in the FGFR1 gene in a 30-year-old Iranian woman. 1.2. Material and Methods: Whole Exome Sequencing (WES) was performed on a 30-year-old woman, followed by sanger sequencing to check for the new mutation in her parents. PolyPhen-2 and Mupro in silico studies were performed to identify probable changes in wild-type and mutant structures.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"78 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":"129536808","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}
Masatsgu Yano, D. Sumitani, M. Shishida, T. Oshiro, M. Ochi, Yuzo Okamoto, H. Nakayama, H. Ohdan
{"title":"A Case of Methotrexate-Associated Lymphoproliferative Disorder After Resection of an Accidentally Detected Enlarged Thyroid Tumor","authors":"Masatsgu Yano, D. Sumitani, M. Shishida, T. Oshiro, M. Ochi, Yuzo Okamoto, H. Nakayama, H. Ohdan","doi":"10.47829/acmcr.2021.71601","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71601","url":null,"abstract":"A Case of Methotrexate-Associated Lymphoproliferative Disorder After Resection of an Accidentally Detected Enlarged Thyroid Tumor Masatsgu Yano1*, Daisuke Sumitani1, Masayuki Shishida1, Takafumi Oshiro1, Makoto Ochi1, Yuzo Okamoto1, Hirofumi Nakayama2 and Hideki Ohdan3 1Department of Surgery, JR Hiroshima Hospital, Hiroshima, Japan 2 Department of Pathology and Laboratory Medicine, JR Hiroshima Hospital, Hiroshima, Japan 3 Department of Gastroenterological and Transplant Surgery, Applied Life Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"174 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":"123207383","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}
Kim Sk, F. T, Kim Sr, F. Y, Kobayashi H, H. T, O. T, N. A, Yuasa K, Takami M, Kim Ki, O. A, N. K, S. Y, Ogawa S, T. Y
{"title":"Non-Structural 5A Resistance-Associated Substitutions and Interleukin28B in HCV Genotype 3b Decompensated Cirrhosis Patients with Sofosbuvir Plus Velpatasvir","authors":"Kim Sk, F. T, Kim Sr, F. Y, Kobayashi H, H. T, O. T, N. A, Yuasa K, Takami M, Kim Ki, O. A, N. K, S. Y, Ogawa S, T. Y","doi":"10.47829/acmcr.2021.71202","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71202","url":null,"abstract":"Non-Structural 5A Resistance-Associated Substitutions and Interleukin28B in HCV Genotype 3b Decompensated Cirrhosis Patients with Sofosbuvir Plus Velpatasvir Kim SK1, Fujii T1*, Kim SR1, Fujii Y1, Kobayashi H2, Hayakumo T1, Okuda T1, Nakai A1, Yuasa K1, Takami M1, Kim KI3, Ohtani A3, Nakao K3, Saijo Y3, Ogawa S4, and Tanaka Y4,5 1*Department of Gastroenterology, Kobe Asahi Hospital, Kobe, 653-0801, Japan 2 Department of Radiology, Kobe Asahi Hospital, Kobe, 653-0801, Japan 3 Department of Pharmacy, Kobe Asahi Hospital, Kobe, 653-0801, Japan 4Department of Virology and Liver Unit, Nagoya City University Graduate School of Medical Sciences, Nagoya, 467-8601, Japan 5Department of Gastroenterology and Hepatology, Faculty of Life Sciences, Kumamoto University, Kumamoto, 860-8556, Japan","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"22 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":"116818032","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}
Mattia C, Tosto M, Lo Bianco M, Presti S, Sciuto L, Sciacca P, Betta P
{"title":"Use of the EIS (Electrical Impedance Segmentography System) in Less-Invasive Surfactant Administration (LISA) in New-Borns Suffering from Respiratory Failure","authors":"Mattia C, Tosto M, Lo Bianco M, Presti S, Sciuto L, Sciacca P, Betta P","doi":"10.47829/acmcr.2023.101275","DOIUrl":"https://doi.org/10.47829/acmcr.2023.101275","url":null,"abstract":"","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"35 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":"130632554","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":"Chronic Graft Versus Host Disease: An Update on the Clinical Characterization and Diagnostic Assessment of Cutaneous and Articular Sclerotic Forms","authors":"Hidalgo Calleja C, Román Curto C, L. L","doi":"10.47829/acmcr.2021.71101","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71101","url":null,"abstract":"Chronic Graft Versus Host Disease: An Update on the Clinical Characterization and Diagnostic Assessment of Cutaneous and Articular Sclerotic Forms Hidalgo Calleja C, Román Curto C and López-Corral L Department of Rheumatology, Complejo AsistencialUniversitario de Salamanca-IBSAL, Spain Department of Dermatology, Complejo AsistencialUniversitario de SalamancaIBSAL, Spain Department of Haematology, Complejo Asistencial Universitario de SalamancaIBSAL. Centro de Investigación del Cáncer-IBMCC, Spain","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"2 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":"128597832","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}
Herlea V, P. A, Dumitru A, Ciongariu Am, Pechianu C, Stoica L, Boros M, H. D., Popescu I
{"title":"Mesenchymal Hamartoma of the Liver and Spleen-A Rare Pseudotumour in Adults","authors":"Herlea V, P. A, Dumitru A, Ciongariu Am, Pechianu C, Stoica L, Boros M, H. D., Popescu I","doi":"10.47829/acmcr.2021.8401","DOIUrl":"https://doi.org/10.47829/acmcr.2021.8401","url":null,"abstract":"Herlea V1,4*, Procop A1, Dumitru A5,6, Ciongariu AM5, Pechianu C1,4, Stoica L2, Boros M3, Hrehoret D2 and Popescu I2,4 1*Department of Pathology, Fundeni Clinical Institute, Bucharest, Romania 2Department of Surgery, Fundeni Clinical Institute, Bucharest, Romania 3Department of Radiology, Fundeni Clinical Institute, Bucharest, Romania 4Titu Maiorescu, University, Faculty of Medicine, Bucharest, Romania 5Emergency University Hospital, Bucharest, Romania 6Carol Davila, University of Medicine and Pharmacy, Bucharest, Romania","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"33 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":"114357685","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}
Barzaghi F, Oggionni E, Piluso M, D. F, Parachini L, Nadalin M, Pagani S, Scarpazza P
{"title":"Severe Acute Global Respiratory Failure Treated with Non Invasive Ventilation: Role of Presepsin as an Early Marker of Sepsis","authors":"Barzaghi F, Oggionni E, Piluso M, D. F, Parachini L, Nadalin M, Pagani S, Scarpazza P","doi":"10.47829/acmcr.2021.8302","DOIUrl":"https://doi.org/10.47829/acmcr.2021.8302","url":null,"abstract":"In polypathological patients an early diagnosis of respiratory failure is often difficult. Frequently, polypathology does not allow intubation and intensive care unit (ICU) treatment with invasive mechanical ventilation (IMV). Non-invasive ventilation (NIV) and admission to respiratory intermediate care unit (RICU) may be the only option in these cases. Presepsin, a new predictive marker of systemic infection, appears particularly usefull for early diagnosis, treatment and prognosis of sepsis. 1.2. Case A 73-year-old man with a previous history of ischemic heart disease undergoing coronary artery bypass grafting (CABG), residual constrictive pericarditis, previous multiple hospitalizations for heart failure (CHF), autoimmune hemolytic anemia on chronic steroid therapy and cognitive impairment arrived to the Emergency Department (ED) in acute global respiratory failure with severe acidosis; he was normothermic, radiological imaging showed aspecific diffuse parenchymal thickening and traditional inflammatory markers (white blood cell - WBC - count and serum level of C-reactive protein - CPR - and procalcitonin - PCT) were in normal range, but blood tests revealed a marked elevation in the value of presepsin. Intensivist’s evaluation concluded for a do-not intubate (DNI) status and the patient was admitted to RICU. The combined treatment with NIV, broad-spectrum antibiotics and dopamine resulted in a progressive improvement of the clinical, laboratoristic and radiological parameters and the subsequent discharge of the patient to home in satisfactory general condition. 1.3. Conclusions Elevated presepsin level was found to be an early predictor of severe sepsis, ofter preceding other laboratory or clinical signs of infection. NIV in RICU and medical therapy allowed the successful treatment of a severe global respiratory failure in a DNI patient.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"20 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":"125625590","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":"Value Your Training and Don’t Lead Me into Temptation – Pitfalls in Neuroprognostication After Cardiac Arrest","authors":"D. Christian, Degen Barbara, Zuercher Patrick","doi":"10.47829/acmcr.2021.71301","DOIUrl":"https://doi.org/10.47829/acmcr.2021.71301","url":null,"abstract":"Value Your Training and Don’t Lead Me into Temptation – Pitfalls in Neuroprognostication After Cardiac Arrest Degen Christian1,2, Degen Barbara3, Zuercher Patrick1* 1Department of Intensive Care Medicine, Inselspital, Bern University Hospital, University of Bern, Switzerland 2Department of Intensive Care Medicine, Cantonal Hospital Aarau, Aarau, Switzerland 3Department of Palliative Care Medicine, University Hospital of Basel, Basel, Switzerland","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"35 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":"124329853","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}
J. Hanáček, I. Urbánková, H. Heřman, P. Křepelka, M. Kouba
{"title":"Young Women with Relapse of Acute Lymphoblastic Leukemia Mimicking the Myomatous Uterus","authors":"J. Hanáček, I. Urbánková, H. Heřman, P. Křepelka, M. Kouba","doi":"10.47829/acmcr.2022.8703","DOIUrl":"https://doi.org/10.47829/acmcr.2022.8703","url":null,"abstract":"Case presenation of a rare clinical manifestation of a relapse of acute lymphoblastic leukemia in a young woman manifested by growing uterus mimicking a myomatous uterus. We present a case of a rare clinical manifestation of a relapse of acute lymphoblastic leukemia ( ALL) in a young woman who desired for pregnancy. ALL relapse manifested by growing uterus mimicking a myomatous uterus.","PeriodicalId":380321,"journal":{"name":"Annals of Clinical and Medical Case Reports","volume":"49 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120890844","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}