Iman S Abumansour, Mohammed H Almatrafi, Mahmoud N Almutadares, Asim A. Khogeer
DYRK1A disorder is among the most frequent monogenic forms of intellectual disability (ID). The majority of cases have been reported to be due to de novo pathogenic variants in DYRK1A gene. This report describes the second case of inherited DYRK1A syndrome that had created issues around variant classification due to its inheritance from an apparently healthy mosaic mother
{"title":"A Case Report of Inherited DYRK1A Neurodevelopmental Syndrome","authors":"Iman S Abumansour, Mohammed H Almatrafi, Mahmoud N Almutadares, Asim A. Khogeer","doi":"10.26502/acmcr.96550569","DOIUrl":"https://doi.org/10.26502/acmcr.96550569","url":null,"abstract":"DYRK1A disorder is among the most frequent monogenic forms of intellectual disability (ID). The majority of cases have been reported to be due to de novo pathogenic variants in DYRK1A gene. This report describes the second case of inherited DYRK1A syndrome that had created issues around variant classification due to its inheritance from an apparently healthy mosaic mother","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69344340","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":"Hyperpigmentation after Full Thickness Skin Grafts–A Case Report","authors":"Staubach R, K. P, Glosse H, L. S","doi":"10.26502/acmcr.96550618","DOIUrl":"https://doi.org/10.26502/acmcr.96550618","url":null,"abstract":",","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69344373","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}
The cause was a dislocated, fractured rib, which had led to a small defect of the diaphragm (Figure 3) with subsequent injury to the intestinal wall. After colon segment resection with attachment of an anastomosis anus praeters and transabdominal over-stitching of the diaphragmatic defect, thoracotomy was performed with extensive lavage of the right half of the thoracic in fecal pleural empyema. Postoperatively, the patient stabilized under intermittent noninvasive ventilation and daily flushing of the chest drains. In the course of both drains were removed. After almost complete convalescence, however, there was a sudden onset of respiratory insufficiency most likely in fulminant pulmonary artery embolism from which the patient died under resuscitation.
{"title":"Unexpectedly Complicative Course of a Rib Series Fracture in Patient with Chilaiditi Syndrome","authors":"Woebker G, Beck P, Kamper L, Ekamp H, Giebel F, Zirngibl H, Ganzera S","doi":"10.26502/acmcr.96550581","DOIUrl":"https://doi.org/10.26502/acmcr.96550581","url":null,"abstract":"The cause was a dislocated, fractured rib, which had led to a small defect of the diaphragm (Figure 3) with subsequent injury to the intestinal wall. After colon segment resection with attachment of an anastomosis anus praeters and transabdominal over-stitching of the diaphragmatic defect, thoracotomy was performed with extensive lavage of the right half of the thoracic in fecal pleural empyema. Postoperatively, the patient stabilized under intermittent noninvasive ventilation and daily flushing of the chest drains. In the course of both drains were removed. After almost complete convalescence, however, there was a sudden onset of respiratory insufficiency most likely in fulminant pulmonary artery embolism from which the patient died under resuscitation.","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69343934","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}
Brugada syndrome (BrS) is an inherited cardiac ion channelopathy, which can induce malignant arrhythmias and sudden cardiac death (SCD). The BrS ECG is characterized by an abnormal ST-segment elevation of at least 2 mm (0.2 mV) in leads V1-3, including three types. Type-1 manifests a coved pattern, which obtained the most diagnostic significance [1-3]. Brugada phenocopy (BrP) is referred to as a clinical situation that has an identical ECG pattern to congenital BrS but is induced by various other clinical factors. In this report, we describe the case of severe heart failure, in which the Type-1 Brugada pattern was recorded.
{"title":"Type 1 Brugada Phenocopy in a Patient with Stubborn Congestive Heart Failure","authors":"Chao Liu, Changjin Li, Haoyu Gu, Song-qun Huang, Jiang Cao, Zhifu Guo","doi":"10.26502/acmcr.96550590","DOIUrl":"https://doi.org/10.26502/acmcr.96550590","url":null,"abstract":"Brugada syndrome (BrS) is an inherited cardiac ion channelopathy, which can induce malignant arrhythmias and sudden cardiac death (SCD). The BrS ECG is characterized by an abnormal ST-segment elevation of at least 2 mm (0.2 mV) in leads V1-3, including three types. Type-1 manifests a coved pattern, which obtained the most diagnostic significance [1-3]. Brugada phenocopy (BrP) is referred to as a clinical situation that has an identical ECG pattern to congenital BrS but is induced by various other clinical factors. In this report, we describe the case of severe heart failure, in which the Type-1 Brugada pattern was recorded.","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69344004","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}
Plasmacytoid urothelial carcinoma is a rare and aggressive variant of bladder cancer that is characterized by infiltrating neoplastic cells that closely resemble plasma cells. It may mimic plasmacytoma, lymphoma, and carcinomas such as lobular carcinoma of breast and poorly differentiated carcinomas of gastrointestinal tract secondarily involving the bladder. There is limited data regarding the comparative immunophenotypes of these morphologically similar tumors. The surgical pathology and consultation files at three institutions were searched for plasmacytoid urothelial carcinoma, lobular breast carcinoma and diffuse or signet ring type gastrointestinal carcinoma from 1998 to 2010. H&E slides of 31 cases were reviewed to confirm diagnoses. A focused immunohistochemical panel including antibodies against E-Cadherin, P63, P53, CD138, MUM-1, estrogen receptor (ER), progesterone receptor (PR), GCDFP-15, CA 125, cytokeratin 7 (CK 7), cytokeratin
{"title":"The Role of Immunohistochemistry in the Distinction of Invasive Plasmacytoid Urothelial Carcinoma from its Histologic Mimics","authors":"McKenney Jk, Sangoi Ar, G. N","doi":"10.26502/acmcr.96550592","DOIUrl":"https://doi.org/10.26502/acmcr.96550592","url":null,"abstract":"Plasmacytoid urothelial carcinoma is a rare and aggressive variant of bladder cancer that is characterized by infiltrating neoplastic cells that closely resemble plasma cells. It may mimic plasmacytoma, lymphoma, and carcinomas such as lobular carcinoma of breast and poorly differentiated carcinomas of gastrointestinal tract secondarily involving the bladder. There is limited data regarding the comparative immunophenotypes of these morphologically similar tumors. The surgical pathology and consultation files at three institutions were searched for plasmacytoid urothelial carcinoma, lobular breast carcinoma and diffuse or signet ring type gastrointestinal carcinoma from 1998 to 2010. H&E slides of 31 cases were reviewed to confirm diagnoses. A focused immunohistochemical panel including antibodies against E-Cadherin, P63, P53, CD138, MUM-1, estrogen receptor (ER), progesterone receptor (PR), GCDFP-15, CA 125, cytokeratin 7 (CK 7), cytokeratin","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69344012","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}
R. Kaddoum, S. Siddik-Sayyid, Jowana Ramadan, Amro Khalili
Affiliation: 1Roland Kaddoum, MD, Associate Professor of Anesthesiology, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon 2Sahar Siddik-Sayyid, MD, FRCA, Professor of Anesthesiology, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon 3Jowana Ramadan, MD, Anesthesiology Resident, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon 4Amro Khalili, MD, EDAIC, Instructor of Clinical Anesthesiology, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon
{"title":"An Old Technique for Epidural Intravascular Test Dose in Parturients: Fentanyl Injection","authors":"R. Kaddoum, S. Siddik-Sayyid, Jowana Ramadan, Amro Khalili","doi":"10.26502/acmcr.96550622","DOIUrl":"https://doi.org/10.26502/acmcr.96550622","url":null,"abstract":"Affiliation: 1Roland Kaddoum, MD, Associate Professor of Anesthesiology, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon 2Sahar Siddik-Sayyid, MD, FRCA, Professor of Anesthesiology, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon 3Jowana Ramadan, MD, Anesthesiology Resident, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon 4Amro Khalili, MD, EDAIC, Instructor of Clinical Anesthesiology, Department of Anesthesiology and Pain Medicine, American University of Beirut Medical Center, Beirut, Lebanon","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69344424","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}
Kiarash Pour Modjib, Christian G Sebesta, Christian Sebesta
Itself, that causes severe lung damage. Thus, it was hypothesized that the use of anti TNFα antibodies could be beneficial in SARS-CoV-2 infection [1]. TNFα has various biological effects such as amplification of proinflammatory and chemotactic mediators, migration of neutrophils and up-regulation of adhesion molecules. Therefore, besides direct cytopathic effect of SARSCoV-2, suppressing of host inflammatory response could serve as another treatment option [2].
{"title":"Covid-19 Infection in Patients with Crohn's Disease on Intensified Adalimumab Treatment with Gastrointestinal Symptoms","authors":"Kiarash Pour Modjib, Christian G Sebesta, Christian Sebesta","doi":"10.26502/acmcr.96550631","DOIUrl":"https://doi.org/10.26502/acmcr.96550631","url":null,"abstract":"Itself, that causes severe lung damage. Thus, it was hypothesized that the use of anti TNFα antibodies could be beneficial in SARS-CoV-2 infection [1]. TNFα has various biological effects such as amplification of proinflammatory and chemotactic mediators, migration of neutrophils and up-regulation of adhesion molecules. Therefore, besides direct cytopathic effect of SARSCoV-2, suppressing of host inflammatory response could serve as another treatment option [2].","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69344556","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}
Steger M, Migueres N, Khayath N, Marcot C, Matau C, Arboit F, Ohana M, De Blay F
Bronchial thermoplasty (BT) is a bronchoscopic treatment for patients with severe asthma that remains uncontrolled despite optimal medical therapy. Several adverse effects and acute radiological abnormalities have been described, but excavated pneumopathy has never been reported as a complication of BT. We describe the development of excavated pneumopathy after the last BT procedure. A 60-year-old woman with severe uncontrolled asthma, despite maximal medical treatment, underwent BT. After the third procedure, she developed an exacerbation of asthma with respiratory deterioration after a reduction in systemic corticosteroid treatment. Chest computer tomography revealed nodular excavated opacities in contact with the bronchial tree, limited to the upper lobes and the lingula. This case suggested that intense thermal stimulation of the bronchial mucosa may lead to tissue fragility and alveolar lung lesions
{"title":"A Case of Excavated Pneumopathy after Bronchial Thermoplasty","authors":"Steger M, Migueres N, Khayath N, Marcot C, Matau C, Arboit F, Ohana M, De Blay F","doi":"10.26502/acmcr.96550536","DOIUrl":"https://doi.org/10.26502/acmcr.96550536","url":null,"abstract":"Bronchial thermoplasty (BT) is a bronchoscopic treatment for patients with severe asthma that remains uncontrolled despite optimal medical therapy. Several adverse effects and acute radiological abnormalities have been described, but excavated pneumopathy has never been reported as a complication of BT. We describe the development of excavated pneumopathy after the last BT procedure. A 60-year-old woman with severe uncontrolled asthma, despite maximal medical treatment, underwent BT. After the third procedure, she developed an exacerbation of asthma with respiratory deterioration after a reduction in systemic corticosteroid treatment. Chest computer tomography revealed nodular excavated opacities in contact with the bronchial tree, limited to the upper lobes and the lingula. This case suggested that intense thermal stimulation of the bronchial mucosa may lead to tissue fragility and alveolar lung lesions","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42360752","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}
Fibromyalgia (FM) is a common cause of central chronic widespread musculoskeletal pain, often accompanied by fatigue, cognitive disturbance, psychiatric symptoms, and multiple somatic symptoms. Its pathogenesis is still unknown and the treatment unsatisfactory. We reported a case of a young adult female affected by deep endometriosis, who developed FM symptoms soon after the interruption of the continuous contraceptive treatment and that recovered after that contraceptive treatment was restarted. To date, a relation between FM and female hormonal cycle has been demonstrated by few studies and evidences are inconclusive. This case report highlights the need of further investigation into the pathogenetic pathway of FM and the possible role of contraceptive treatment in improving patients’ quality of life.
{"title":"Can Hormonal Contraceptive Therapy be a useful treatment in Fibromyalgia? A Case Report","authors":"A. Musto, M. Camici","doi":"10.26502/acmcr.96550484","DOIUrl":"https://doi.org/10.26502/acmcr.96550484","url":null,"abstract":"Fibromyalgia (FM) is a common cause of central chronic widespread musculoskeletal pain, often accompanied by fatigue, cognitive disturbance, psychiatric symptoms, and multiple somatic symptoms. Its pathogenesis is still unknown and the treatment unsatisfactory. We reported a case of a young adult female affected by deep endometriosis, who developed FM symptoms soon after the interruption of the continuous contraceptive treatment and that recovered after that contraceptive treatment was restarted. To date, a relation between FM and female hormonal cycle has been demonstrated by few studies and evidences are inconclusive. This case report highlights the need of further investigation into the pathogenetic pathway of FM and the possible role of contraceptive treatment in improving patients’ quality of life.","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69343370","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}
Background: Although the precise pathophysiology of Hidradenitis Suppurativa (HS) is yet to be elucidated, involvement of various cytokines has been proposed. Accordingly, the use of biologics has been introduced in the armamentarium and adalimumab is currently the only registered biologic for this indiciation. However, case series for IL-12/23 and IL 23-inhibitors are emerging. In case of therapeutic failure or loss of response to a biological, therapy is often blindly adapted, whereas Therapeutic Drug Monitoring (TDM) might assist in a personalized approach to optimize treatment. TDM has shown to be effective in other inflammatory diseases with overlapping pathogenesis. Methods: We present a case of HS with waning response to first adalimumab and then guselkumab for both of which TDM was performed. Research of the literature was conducted. Results: Our patient showed a waning clinical response that was paralleled by a drop in the Trough Levels (TL), first of adalimumab, then of guselkumab. Literature search showed only scarce data on TDM in HS patients. Conclusion: Future research is warranted to determine optimal serum TL for therapeutic efficacy of the biologicals in the treatment of HS. Arch Clin Med Case Rep 2022; 6 (1): 11-16 DOI: 10.26502/acmcr.96550443 Archives of Clinical and Medical Case Reports 12
背景:虽然化脓性汗腺炎(HS)的确切病理生理尚未阐明，但已提出多种细胞因子的参与。因此，生物制剂的使用已被引入医疗器械，阿达木单抗是目前唯一注册用于该适应症的生物制剂。然而，IL-12/23和IL- 23抑制剂的病例系列正在出现。在治疗失败或对生物药物失去反应的情况下，治疗通常是盲目适应的，而治疗药物监测(TDM)可能有助于个性化的方法来优化治疗。TDM已被证明对其他具有重叠发病机制的炎症性疾病有效。方法:我们提出了一个HS病例，先是阿达木单抗，然后是guselkumab，对这两种药物都进行了TDM。对文献进行了研究。结果:我们的患者表现出逐渐减弱的临床反应，与此同时，阿达木单抗的谷底水平(TL)下降，然后是古塞库单抗。文献检索显示，HS患者TDM的资料很少。结论:该生物制剂治疗HS的最佳血清TL有待进一步研究。Arch clinin Med Case Rep 2022;6 (1): 11-16 DOI: 10.26502/acmcr.96550443临床和医学病例报告档案
{"title":"Guiding the Treatment of Hidradenitis Suppurativa: A Role for Therapeutic Drug Monitoring","authors":"Charlotte Vanhoutte, T. Hillary, A. Laethem","doi":"10.26502/acmcr.96550443","DOIUrl":"https://doi.org/10.26502/acmcr.96550443","url":null,"abstract":"Background: Although the precise pathophysiology of Hidradenitis Suppurativa (HS) is yet to be elucidated, involvement of various cytokines has been proposed. Accordingly, the use of biologics has been introduced in the armamentarium and adalimumab is currently the only registered biologic for this indiciation. However, case series for IL-12/23 and IL 23-inhibitors are emerging. In case of therapeutic failure or loss of response to a biological, therapy is often blindly adapted, whereas Therapeutic Drug Monitoring (TDM) might assist in a personalized approach to optimize treatment. TDM has shown to be effective in other inflammatory diseases with overlapping pathogenesis. Methods: We present a case of HS with waning response to first adalimumab and then guselkumab for both of which TDM was performed. Research of the literature was conducted. Results: Our patient showed a waning clinical response that was paralleled by a drop in the Trough Levels (TL), first of adalimumab, then of guselkumab. Literature search showed only scarce data on TDM in HS patients. Conclusion: Future research is warranted to determine optimal serum TL for therapeutic efficacy of the biologicals in the treatment of HS. Arch Clin Med Case Rep 2022; 6 (1): 11-16 DOI: 10.26502/acmcr.96550443 Archives of Clinical and Medical Case Reports 12","PeriodicalId":72280,"journal":{"name":"Archives of clinical and medical case reports","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69343471","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}
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