I. Nițu, I. Burcea, Daniela Greere, A. Croitoru, C. Poiană
Introduction: Carcinoid Heart Disease (CHD) is a rare cardiac manifestation occurring in patients with advanced Neuroendocrine Tumours (NET) and the carcinoid syndrome, usually involving the right-sided heart valves and eventually leading to right heart failure. The additional burden of cardiac dysfunction heralds a steep decline in quality of life and survival, the prompt recognition of this disease being therefore of the utmost importance. Case summary: We present the case of a 57 year old female patient diagnosed in 2016 with carcinoid tumor of the proxymal ileum (Grade 2 NET ki 67 8%) and liver metastasis. She underwent surgery with both tumor and secondary determinations resection, followed by chemotherapy in the same year. The patient comes to our clinic in February 2019, complaining in the last 5 months of abdominal pain associated with flushing of the face, simetric peripheral edema, progressive limitation in effort, appearance of dyspnea on moderate exertion and dry caugh. The transthoracic echocardiography detected severe dilation of the right chambers, systolic dysfunction of the right ventricle, tricuspid disease with severe regurgitation and mild stenosis.
{"title":"Patient with Carcinoid Syndrome and Severe Cardiac Disease with Both Tricuspid an Pulmonary Lesions","authors":"I. Nițu, I. Burcea, Daniela Greere, A. Croitoru, C. Poiană","doi":"10.26502/acmcr.96550518","DOIUrl":"https://doi.org/10.26502/acmcr.96550518","url":null,"abstract":"Introduction: Carcinoid Heart Disease (CHD) is a rare cardiac manifestation occurring in patients with advanced Neuroendocrine Tumours (NET) and the carcinoid syndrome, usually involving the right-sided heart valves and eventually leading to right heart failure. The additional burden of cardiac dysfunction heralds a steep decline in quality of life and survival, the prompt recognition of this disease being therefore of the utmost importance. Case summary: We present the case of a 57 year old female patient diagnosed in 2016 with carcinoid tumor of the proxymal ileum (Grade 2 NET ki 67 8%) and liver metastasis. She underwent surgery with both tumor and secondary determinations resection, followed by chemotherapy in the same year. The patient comes to our clinic in February 2019, complaining in the last 5 months of abdominal pain associated with flushing of the face, simetric peripheral edema, progressive limitation in effort, appearance of dyspnea on moderate exertion and dry caugh. The transthoracic echocardiography detected severe dilation of the right chambers, systolic dysfunction of the right ventricle, tricuspid disease with severe regurgitation and mild stenosis.","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":"69343387","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}
Irfan Jan Khan, Murad Alahmad, Fahad Aurif, Najeeb Hussain Mir
Introduction: Cholelithiasis is very common, but giant gallstones gallstones bigger than 5 cm in diameter, are very rare. It is very challenging to remove them laparoscopically, especially in emergency situations. Case Report: A 69-year-old female complained of right upper abdominal pain with vomiting for 1 day. Abdominal ultrasound indicated acute cholecystitis and a single, extremely large gallstone (9cm). Emergency laparoscopic cholecystectomy was performed successfully. Discussion: Gallstone over 5 cm in diameter is very rare. Laparoscopic Cholecystectomy (LC) is very difficult for these cases, especially in the emergency situations. Laparoscopic cholecystectomy can, however, be safely performed in experienced hands. To the best of our knowledge, this is one of the biggest gallstones managed laparoscopically. Conclusion: Although the presence of giant gallstones poses technical challenges, laparoscopic cholecystectomy can be safely performed in the experienced hands. However, if the anatomy cannot be delineated clearly, open surgery remains the safe option. Arch Clin Med Case Rep 2022; 6 (1): 40-44 DOI: 10.26502/acmcr.96550447 Archives of Clinical and Medical Case Reports 41
导语:胆石症很常见，但巨大的胆结石直径大于5厘米的胆结石非常罕见。在腹腔镜下切除它们是非常具有挑战性的，尤其是在紧急情况下。病例报告:一名69岁女性，主诉右上腹部疼痛伴呕吐1天。腹部超声提示急性胆囊炎和单个特大胆结石(9cm)。急诊腹腔镜胆囊切除术成功。讨论:胆结石直径超过5厘米是非常罕见的。腹腔镜胆囊切除术(LC)是非常困难的，特别是在紧急情况下。然而，腹腔镜胆囊切除术可以安全地在有经验的人手中进行。据我们所知，这是腹腔镜下最大的胆结石之一。结论:虽然巨大胆结石的存在带来了技术上的挑战，但在经验丰富的人手中，腹腔镜胆囊切除术是可以安全进行的。然而，如果解剖结构不能清晰地描绘，开放手术仍然是安全的选择。Arch clinin Med Case Rep 2022;6 (1): 40-44 DOI: 10.26502/acmcr.96550447临床和医学病例报告档案
{"title":"Laparoscopic Cholecystectomy for a giant Gallstone","authors":"Irfan Jan Khan, Murad Alahmad, Fahad Aurif, Najeeb Hussain Mir","doi":"10.26502/acmcr.96550447","DOIUrl":"https://doi.org/10.26502/acmcr.96550447","url":null,"abstract":"Introduction: Cholelithiasis is very common, but giant gallstones gallstones bigger than 5 cm in diameter, are very rare. It is very challenging to remove them laparoscopically, especially in emergency situations. Case Report: A 69-year-old female complained of right upper abdominal pain with vomiting for 1 day. Abdominal ultrasound indicated acute cholecystitis and a single, extremely large gallstone (9cm). Emergency laparoscopic cholecystectomy was performed successfully. Discussion: Gallstone over 5 cm in diameter is very rare. Laparoscopic Cholecystectomy (LC) is very difficult for these cases, especially in the emergency situations. Laparoscopic cholecystectomy can, however, be safely performed in experienced hands. To the best of our knowledge, this is one of the biggest gallstones managed laparoscopically. Conclusion: Although the presence of giant gallstones poses technical challenges, laparoscopic cholecystectomy can be safely performed in the experienced hands. However, if the anatomy cannot be delineated clearly, open surgery remains the safe option. Arch Clin Med Case Rep 2022; 6 (1): 40-44 DOI: 10.26502/acmcr.96550447 Archives of Clinical and Medical Case Reports 41","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":"69343522","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}
Presenting Chronic Anemia: A Case Report. Abstract Background: Hemolymphangioma is a rare disease with congenital malformation of both vascular and lymphatic vessels characterized by cystic dilation. It mostly occurs in cutaneous localizations like head, neck during childhood. Only few cases of hemolymphangioma occur in the small intestine, pancreas, esophagus have been reported. Hemolymphangioma is usually asymptomatic symptoms can be chronic anemia due to gastrointestinal bleeding. They constitute an unusual manifestation and there is a low incidence of this type of tumor. Case Presentation: We report the case of a 42-year-old male, with a 7- month history of chronic anemia requiring blood transfusion. Hemoglobin and Hematocrit count were low, therefore further examinations were required to rule out bleeding sources or other causes of anemia. Double balloon enteroscopy showed a 20×20 mm lesion taking up 30% of the circumference in the proximal jejunum, with raised whitish edges, the center with a vascular appearance, and bleeding spots. Histological sections of the lesion revealed in the lamina propria and submucosal layer of the jejunum several markedly dilated thin-walled lymphatic spaces lined with single layers of flat endothelial cells. The final pathologic diagnosis was submucosal hemolymphangioma. Histological examination confirmed the diagnosis of submucosal hemolymphangioma. Conclusion: The clinical symptoms of hemolymphangioma range from abdominal pain, anemia due to chronic blood loss in gastrointestinal tract, and obstruction to perforation. This case makes the point that hemolymphangioma should be concerned in the differential diagnosis of chronic anemia and other tumors in abdominal cavity with multiple diagnostic methods to confirm the presence of the condition.
{"title":"Jejunum Hemolymphangioma Presenting as Chronic Anemia: A Case Report","authors":"Jiao Liu, Meng Zhang, Yesheng Li, Yi Chen, Yong-Han Hong, Yangqing Huang","doi":"10.26502/acmcr.96550448","DOIUrl":"https://doi.org/10.26502/acmcr.96550448","url":null,"abstract":"Presenting Chronic Anemia: A Case Report. Abstract Background: Hemolymphangioma is a rare disease with congenital malformation of both vascular and lymphatic vessels characterized by cystic dilation. It mostly occurs in cutaneous localizations like head, neck during childhood. Only few cases of hemolymphangioma occur in the small intestine, pancreas, esophagus have been reported. Hemolymphangioma is usually asymptomatic symptoms can be chronic anemia due to gastrointestinal bleeding. They constitute an unusual manifestation and there is a low incidence of this type of tumor. Case Presentation: We report the case of a 42-year-old male, with a 7- month history of chronic anemia requiring blood transfusion. Hemoglobin and Hematocrit count were low, therefore further examinations were required to rule out bleeding sources or other causes of anemia. Double balloon enteroscopy showed a 20×20 mm lesion taking up 30% of the circumference in the proximal jejunum, with raised whitish edges, the center with a vascular appearance, and bleeding spots. Histological sections of the lesion revealed in the lamina propria and submucosal layer of the jejunum several markedly dilated thin-walled lymphatic spaces lined with single layers of flat endothelial cells. The final pathologic diagnosis was submucosal hemolymphangioma. Histological examination confirmed the diagnosis of submucosal hemolymphangioma. Conclusion: The clinical symptoms of hemolymphangioma range from abdominal pain, anemia due to chronic blood loss in gastrointestinal tract, and obstruction to perforation. This case makes the point that hemolymphangioma should be concerned in the differential diagnosis of chronic anemia and other tumors in abdominal cavity with multiple diagnostic methods to confirm the presence of the condition.","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":"69343528","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}
Sondus Alsharidah, S. Ousia, E. Abdelhafez, B. Antoun, Dala AlShemmeri, Hassan M Khalil, M. Askar
Urgent Appendectomy Performed Along with Hematopoietic Cell Transplantation (HCT) for a Patient with Severe Aplastic Anaemia – A Case Report. Abstract A 14-year-old male was waiting for hematopoietic cell transplantation for severe aplastic anaemia. The night prior to the transplant he unexpectedly developed acute appendicitis. A couple of hours earlier to the emergency laparoscopic appendectomy, he had peripheral blood stem cell (PBSC) transplant with no complications.
{"title":"Urgent Appendectomy Performed Along with Hematopoietic Cell Transplantation (HCT) for a Patient with Severe Aplastic Anaemia – A Case Report","authors":"Sondus Alsharidah, S. Ousia, E. Abdelhafez, B. Antoun, Dala AlShemmeri, Hassan M Khalil, M. Askar","doi":"10.26502/acmcr.96550481","DOIUrl":"https://doi.org/10.26502/acmcr.96550481","url":null,"abstract":"Urgent Appendectomy Performed Along with Hematopoietic Cell Transplantation (HCT) for a Patient with Severe Aplastic Anaemia – A Case Report. Abstract A 14-year-old male was waiting for hematopoietic cell transplantation for severe aplastic anaemia. The night prior to the transplant he unexpectedly developed acute appendicitis. A couple of hours earlier to the emergency laparoscopic appendectomy, he had peripheral blood stem cell (PBSC) transplant with no complications.","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":"69343819","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}
Seungmin Ham, Craig B. Harrison, P. Temple‐Smith, G. Southwick
Affiliation: #Authors equally contributed to this work as last authors 1Department of Obstetrics and Gynaecology, Monash University, Melbourne, Victoria, 3168, Australia 2Department of Physiology, Monash University, Melbourne, Victoria, 3168, Australia 3Hudson Institute of Medical Research, Melbourne, Victoria, 3168, Australia 4Melbourne Institute of Plastic Surgery, Malvern, Victoria 3144, Australia
{"title":"Implications of High Levels of Activin B in Human Keloid: A Case Report","authors":"Seungmin Ham, Craig B. Harrison, P. Temple‐Smith, G. Southwick","doi":"10.26502/acmcr.96550523","DOIUrl":"https://doi.org/10.26502/acmcr.96550523","url":null,"abstract":"Affiliation: #Authors equally contributed to this work as last authors 1Department of Obstetrics and Gynaecology, Monash University, Melbourne, Victoria, 3168, Australia 2Department of Physiology, Monash University, Melbourne, Victoria, 3168, Australia 3Hudson Institute of Medical Research, Melbourne, Victoria, 3168, Australia 4Melbourne Institute of Plastic Surgery, Malvern, Victoria 3144, Australia","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":"69343863","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}
Katja Schumacher, Sabine Meier, M. Borger, M. Kostelka, M. Vollroth
of a Large Aortopulmonary Window in a Very Low Weight and Preterm Born Infant. 370-373. Abstract Background Aortopulmonary window represents 0.2-0.3% of all congenital cardiac malformations. Usually, aortopulmonary window results in left-to-right shunt. Thus, progressive pulmonary hypertension and its consequences are associated with this anomaly. Commonly, it is located in the ascending aorta. Case Presentation We are describing a premature low-birth-weight infant who was diagnosed with large aortopulmonary window between the pulmonary artery bifurcation and the ascending aorta extending to the aortic arch. Surgery was successfully performed at the age of 4 weeks due to progressive congestive heart failure. This report highlights the importance of early surgical repair in patients with complex aortopulmonary window configuration.
{"title":"Atypical Presentation of a Large Aortopulmonary Window in a Very Low Weight and Preterm Born Infant","authors":"Katja Schumacher, Sabine Meier, M. Borger, M. Kostelka, M. Vollroth","doi":"10.26502/acmcr.96550486","DOIUrl":"https://doi.org/10.26502/acmcr.96550486","url":null,"abstract":"of a Large Aortopulmonary Window in a Very Low Weight and Preterm Born Infant. 370-373. Abstract Background Aortopulmonary window represents 0.2-0.3% of all congenital cardiac malformations. Usually, aortopulmonary window results in left-to-right shunt. Thus, progressive pulmonary hypertension and its consequences are associated with this anomaly. Commonly, it is located in the ascending aorta. Case Presentation We are describing a premature low-birth-weight infant who was diagnosed with large aortopulmonary window between the pulmonary artery bifurcation and the ascending aorta extending to the aortic arch. Surgery was successfully performed at the age of 4 weeks due to progressive congestive heart failure. This report highlights the importance of early surgical repair in patients with complex aortopulmonary window configuration.","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":"69343435","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}
Relation between mRNA Covid-19 vaccine and acute pericarditis has been advocated. However, we have with no further information about the mid-term evolution of this complication. Here we present the possibility of a rapid evolution towards a constrictive pericarditis. Physicians should know this possibility and closely follow-up these patients.
{"title":"Subacute Constrictive Pericarditis after mRNA Covid-19 Vaccination","authors":"I. Hysi, O. Rebet, B. Vaquette, O. Fabre","doi":"10.26502/acmcr.96550465","DOIUrl":"https://doi.org/10.26502/acmcr.96550465","url":null,"abstract":"Relation between mRNA Covid-19 vaccine and acute pericarditis has been advocated. However, we have with no further information about the mid-term evolution of this complication. Here we present the possibility of a rapid evolution towards a constrictive pericarditis. Physicians should know this possibility and closely follow-up these patients.","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":"69343741","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}
Fabiana Carbone, G. Santangelo, M. Scudo, A. Fracassi, G. Gentile, V. Di Donato, I. Palaia, L. Spiniello, G. Perniola
Background: Gestational trophoblastic disease (GTD) is a rare developmental form of proliferative trophoblastic tissue. Scarse literature exists regarding the optimal management of patients with advanced GTD. We report a case of high risk GTD treated with poly-chemotherapy prior to uterine suction curettage. Case: A 29-year-old woman presented high risk GTD. She was treated with three cycles of poly-chemotherapy in another hospital and then she was referred to our emergency room for the surgical management. Conclusion: This case highlights the possibility of conservative treatment of GTD.
{"title":"High Risk Molar Pregnancy Treated by Chemotherapy and Surgery: A Case Report","authors":"Fabiana Carbone, G. Santangelo, M. Scudo, A. Fracassi, G. Gentile, V. Di Donato, I. Palaia, L. Spiniello, G. Perniola","doi":"10.26502/acmcr.96550515","DOIUrl":"https://doi.org/10.26502/acmcr.96550515","url":null,"abstract":"Background: Gestational trophoblastic disease (GTD) is a rare developmental form of proliferative trophoblastic tissue. Scarse literature exists regarding the optimal management of patients with advanced GTD. We report a case of high risk GTD treated with poly-chemotherapy prior to uterine suction curettage. Case: A 29-year-old woman presented high risk GTD. She was treated with three cycles of poly-chemotherapy in another hospital and then she was referred to our emergency room for the surgical management. Conclusion: This case highlights the possibility of conservative treatment of GTD.","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":"69343791","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}
Gabriele Iraci Sareri, D. Cataldo, V. Mancini, L. Nigi, F. Dotta
B-cell Abstract Diabetic mastopathy is a rare condition representing less than 1% of all benign breast lesions, occurring preferentially in pre-menopausal women affected by long-standing type 1 diabetes, especially in presence of microvascular diabetic complications. Its exact etiopathogenesis is still unclear, however an autoimmune background is highly hypothesized. In some cases, diabetic mastopathy strongly mimicks breast cancer. To date, no widely accepted diagnostic guidelines have been established for this pathological condition, however core-needle biopsy represents the gold standard for diagnosis. Surgical excision is the primary treatment option, taking into consideration the potential development of diabetic mastopathy into a breast cancer. We here describe for the first time the coexistence of diabetic mastopathy with a neuroendocrine tumor in a long-standing type 1 diabetic woman. This association apparently seems “incidental”, however it would be interesting to verify whether other cases will be reported in order to clarify the possible relationship between these two pathological conditions.
{"title":"Diabetic Mastopathy Coexisting with Appendix Neuroendocrine Tumor in A Type 1 Diabetic Woman: A Case Report","authors":"Gabriele Iraci Sareri, D. Cataldo, V. Mancini, L. Nigi, F. Dotta","doi":"10.26502/acmcr.96550516","DOIUrl":"https://doi.org/10.26502/acmcr.96550516","url":null,"abstract":"B-cell Abstract Diabetic mastopathy is a rare condition representing less than 1% of all benign breast lesions, occurring preferentially in pre-menopausal women affected by long-standing type 1 diabetes, especially in presence of microvascular diabetic complications. Its exact etiopathogenesis is still unclear, however an autoimmune background is highly hypothesized. In some cases, diabetic mastopathy strongly mimicks breast cancer. To date, no widely accepted diagnostic guidelines have been established for this pathological condition, however core-needle biopsy represents the gold standard for diagnosis. Surgical excision is the primary treatment option, taking into consideration the potential development of diabetic mastopathy into a breast cancer. We here describe for the first time the coexistence of diabetic mastopathy with a neuroendocrine tumor in a long-standing type 1 diabetic woman. This association apparently seems “incidental”, however it would be interesting to verify whether other cases will be reported in order to clarify the possible relationship between these two pathological conditions.","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":"69343833","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}
Carme Gomila Sintes, S. Bernal, E. Rojas, Pilar Leoz Alegretti, Matias Nicolas Flores Orella, A. B. Betbesé Roig
G6PD deficiency is an X-linked, hereditary genetic disorder. G6DP gene is located on the long arm of this chromosome (Xq28). The most common clinical manifestations are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent (infec-tion, ingestion of fava beans (favism) or exposure to an oxidative drug). Favism is most frequently diagnosed in children below 5 years of age, whereas its diagnose in adulthood is relatively uncommon, even more in the elderly. We outline a case of an elderly male who required admission to the Intensive Care Unit because of a severe hemolysis and acute kidney injury after fava beans ingestion. Intensive Unit; LDH: Lactate dehydrogenase; GCS: scale; AKI: Acute kidney injury; DNA: Deoxyribonucleic acid; PCR: Polymerase chain reaction; HGVS: Human Genome Variation Society; NADP: nicotinamide-adenine dinucleotide phosphate.
{"title":"Favism in the Elderly","authors":"Carme Gomila Sintes, S. Bernal, E. Rojas, Pilar Leoz Alegretti, Matias Nicolas Flores Orella, A. B. Betbesé Roig","doi":"10.26502/acmcr.96550521","DOIUrl":"https://doi.org/10.26502/acmcr.96550521","url":null,"abstract":"G6PD deficiency is an X-linked, hereditary genetic disorder. G6DP gene is located on the long arm of this chromosome (Xq28). The most common clinical manifestations are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent (infec-tion, ingestion of fava beans (favism) or exposure to an oxidative drug). Favism is most frequently diagnosed in children below 5 years of age, whereas its diagnose in adulthood is relatively uncommon, even more in the elderly. We outline a case of an elderly male who required admission to the Intensive Care Unit because of a severe hemolysis and acute kidney injury after fava beans ingestion. Intensive Unit; LDH: Lactate dehydrogenase; GCS: scale; AKI: Acute kidney injury; DNA: Deoxyribonucleic acid; PCR: Polymerase chain reaction; HGVS: Human Genome Variation Society; NADP: nicotinamide-adenine dinucleotide phosphate.","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":"69343851","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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