{"title":"Tug of war between clozapine and CYP450 inducers: A case report.","authors":"Gaurav Taneja, Luba Leontieva","doi":"10.1177/2050313X241283262","DOIUrl":"10.1177/2050313X241283262","url":null,"abstract":"<p><p>The management of schizoaffective disorder bipolar type often involves a combination of pharmacotherapy and psychotherapy. Clozapine, an effective antipsychotic for treatment-resistant schizophrenia, and oxcarbazepine, a mood stabilizer, is a commonly prescribed medication. We present a case report of a 56-year-old male with schizoaffective disorder bipolar type who experienced subtherapeutic clozapine levels despite dose adjustments, leading to deteriorating symptoms. Oxcarbazepine, a weak CYP450 inducer, likely contributed to the subtherapeutic levels. Additionally, the pharmacogenetic analysis revealed a CYP1A2 *1F/*1F genotype, indicating normal activity with a potential for decreased serum levels and adverse events in the presence of inducers. The patient was eventually stabilized on a regimen of lithium, paliperidone, and quetiapine, avoiding oxcarbazepine. This case highlights the importance of considering individual patient factors, including pharmacogenetics when managing treatment-resistant patients. Monitoring serum clozapine levels and assessing enzyme activity before initiating therapy may help optimize treatment outcomes and minimize adverse events.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241283262"},"PeriodicalIF":0.6,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11456182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Metastasizing pleomorphic adenoma of parotid gland: Case report.","authors":"Wan-Hsun Tsai, Bor-Hwang Kang","doi":"10.1177/2050313X241275339","DOIUrl":"10.1177/2050313X241275339","url":null,"abstract":"<p><p>Pleomorphic adenoma is a benign tumor and the most common salivary gland neoplasm. Metastasizing pleomorphic adenoma shares histological characteristics with pleomorphic adenoma but exhibits malignant behavior, including local lymph node involvement and/or distant metastasis. Several potential risk factors for metastasizing pleomorphic adenoma have been identified, some of which are associated with incomplete tumor clearance due to inadequate surgical techniques used in the treatment of primary pleomorphic adenoma. Here, we present a rare case of metastasizing pleomorphic adenoma originating from the parotid gland and describe its clinical features. The patient was a 75-year-old female with a surgical history of enucleation of a pleomorphic adenoma in the left parotid gland. Total parotidectomy and left neck dissection were performed for the left parotid tumor this time, and the patient attended one postoperative outpatient visit but subsequently was lost to follow-up.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241275339"},"PeriodicalIF":0.6,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"<i>PML</i> mutation and familial pediatric acute lymphoblastic leukemia: A case report.","authors":"JinFang Zhang, MingYan Zhong","doi":"10.1177/2050313X241272534","DOIUrl":"10.1177/2050313X241272534","url":null,"abstract":"<p><p>Hereditary factors contribute to the pathogenesis of pediatric leukemia. However, few studies have reported gene mutation pathopoeias. This paper reports genetic mutations associated with hereditary acute lymphoblastic leukemia. We reported a case of siblings diagnosed with acute lymphoblastic leukemia when aged 3 and 7 years, both siblings are alive after chemotherapy, and whole exome sequencing analysis was performed on the siblings and their parents. It was observed that both siblings had diheterozygous mutations in <i>PML</i> gene (<i>PML</i>, NM_033250, exon7, c.2170A<b>></b>G, p.S724G; <i>PML</i>, NM_033250, exon7, c.2195G<b>></b>T, p.G732V), and their parents had heterozygous mutations in one mutation site of <i>PML</i> gene, respectively, suggesting that the diheterozygous mutations of <i>PML</i> gene might be causal genetic genes for the occurrence of acute lymphoblastic leukemia.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241272534"},"PeriodicalIF":0.6,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Georges Yared, Kariman Ghazal, Ali Younis, Wardah Alakrah, Christopher Massaad, Khodor Al Hajj, Charlotte El Hajjar, Maroun Matar
{"title":"Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.","authors":"Georges Yared, Kariman Ghazal, Ali Younis, Wardah Alakrah, Christopher Massaad, Khodor Al Hajj, Charlotte El Hajjar, Maroun Matar","doi":"10.1177/2050313X241282215","DOIUrl":"10.1177/2050313X241282215","url":null,"abstract":"<p><p>This case report examines a newborn with bilateral postaxial polydactyly type B, delivered by a 42-year-old mother with a history of third-degree consanguinity. The mother, having had no prior live births and one abortion, presented at 39 weeks gestation. The absence of prenatal care is noted, with its potential impact on prenatal diagnosis not assessed. The newborn, a healthy girl, weighed 3400 g with an Apgar score of 9/10. Radiographic and physical examination revealed vestigial sixth digits with rudimentary phalanges, influencing the surgical approach. This report underscores the importance of genetic counseling in cases of consanguinity and illustrates the multidisciplinary strategy necessary for managing polydactyly, from surgical considerations to genetic evaluation.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241282215"},"PeriodicalIF":0.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Salma Zahraoui, Najlae Benjelloun, Mouna Salihoun, Fatiha Bouhamou, Mohammed Acharki, Ilham Serraj, Nawal Kabbaj
{"title":"Esophageal involvement in Bullous pemphigoid: Case report.","authors":"Salma Zahraoui, Najlae Benjelloun, Mouna Salihoun, Fatiha Bouhamou, Mohammed Acharki, Ilham Serraj, Nawal Kabbaj","doi":"10.1177/2050313X241279726","DOIUrl":"10.1177/2050313X241279726","url":null,"abstract":"<p><p>Bullous pemphigoid is a rare chronic autoimmune dermatologic blistering disease that usually affects elderly patients. Mucosal lesions are present in about 10%-35% of cases and affects most frequently the mucous membranes of the eye or the mouth. Esophageal involvement is possible but is rare (4% of cases). It could be asymptomatic, or presents with dysphagia, odynophagia, chest pain, or upper gastro-intestinal bleeding. We report the case of a recently diagnosed bullous pemphigoid in a 73-years-old female with normochromic normocytic anemia due to vitamin B12 deficiency who was referred to our unity for esophagogastroduodenoscopy. Our endoscopic examination revealed two bullae filled with blood at upper esophagus with linear ulcerations and membrane detachment upon withdrawal of the endoscope. Although bullous pemphigoid is mainly a skin disease, invasion of esophagus needs to be considered especially when symptoms are present or when no cause was found for blood loss or anemia.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241279726"},"PeriodicalIF":0.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ali Bani Odah, Ameer Awashra, Zaid Sawaftah, Ahmed Sawafta, Omar Sawafta, Jehad Khamaysa, Mohammed Abdalqader, Yazan Ghannam
{"title":"Diagnosing Behçet's disease in the presence of pulmonary artery aneurysm and systemic symptoms: A case report.","authors":"Ali Bani Odah, Ameer Awashra, Zaid Sawaftah, Ahmed Sawafta, Omar Sawafta, Jehad Khamaysa, Mohammed Abdalqader, Yazan Ghannam","doi":"10.1177/2050313X241282383","DOIUrl":"10.1177/2050313X241282383","url":null,"abstract":"<p><p>Behçet's disease is a chronic inflammatory disorder that often presents with a triad of uveitis, oral aphthous ulcers, and genital ulcerations, along with systemic manifestations such as vascular involvement. We report a case of a 36-year-old male with a significant smoking history who presented with recurrent hemoptysis and a progressive cough, leading to the diagnosis of Behçet's disease. Physical examination and imaging studies revealed aphthous and genital ulcerations, erythematous nodules, and a pulmonary artery aneurysm. Elevated inflammatory markers supported the diagnosis and treatment with methylprednisolone and infliximab resulted in clinical improvement. The management of pulmonary artery aneurysm in Behçet's disease includes both medical and interventional strategies, with endovascular interventions like coil embolization being crucial for managing life-threatening hemoptysis or aneurysm rupture.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241282383"},"PeriodicalIF":0.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pseudo-Meigs syndrome due to bilateral serous ovarian adenocarcinoma: A case report.","authors":"T Semina, S Kannangara, S Silva","doi":"10.1177/2050313X241280023","DOIUrl":"https://doi.org/10.1177/2050313X241280023","url":null,"abstract":"<p><p>Pseudo-Meigs syndrome is a rare entity where pleural effusion and ascites disappear after resection of a benign or malignant pelvic tumour. We report a 48-year-old woman presented with shortness of breath and abdominal distention. She had a right-sided massive pleural effusion and ascites. Pleural and ascitic fluid analysis revealed exudative effusion in the absence of pyogenic foci, tuberculosis or malignant cells. Contrast-enhanced computed tomography of the abdomen showed bilateral ovarian malignancy with peritoneal deposits and ascites which was later confirmed as serous adenocarcinoma. Surgical resection of the tumour led to the resolution of the pleural effusion and ascites suggestive of Pseudo-Meigs syndrome. The presentation due to bilateral ovarian serous adenocarcinoma has not been reported in the literature.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241280023"},"PeriodicalIF":0.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11409291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case report of cardiopulmonary exercise testing and incentive spirometry-guided breathing pattern alteration for a severely tachypnoeic kyphoscoliotic patient undergoing major thoracic surgery for suspected lung malignancy.","authors":"Alan Wai-Lun Wong, Carmen Ka-Man Lam","doi":"10.1177/2050313X241275384","DOIUrl":"https://doi.org/10.1177/2050313X241275384","url":null,"abstract":"<p><p>A case report of a severely dyspnoeic kyphoscoliotic patient intended for an elective major thoracic surgery for suspected lung malignancy. With baseline near maximal breathing frequency and shallow breaths and poor lung mechanics, the first encountered anaesthetist considered this patient too high risk for lobectomy. This case illustrated the application of cardiopulmonary exercise testing to provide an objective assessment of the patient's functional capacity, ventilatory efficiency and delineation of modifiable respiratory components that guide the formulation of individualized prehabilitation programme. It also depicted the perioperative role of an off-label use of incentive spirometry in providing visual feedbacks and led to subsequent assessment breathing pattern alternation. Patient underwent the lung resection uneventfully and returned to normal lifestyle on postoperative day 4.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241275384"},"PeriodicalIF":0.6,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11406589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A fetus with a mass in the oral cavity: A rare case of large oral immature teratoma.","authors":"Saba Anjum, Humza Faisal Siddiqui, Sidra Arshad","doi":"10.1177/2050313X241275027","DOIUrl":"https://doi.org/10.1177/2050313X241275027","url":null,"abstract":"<p><p>Oral teratoma is a congenital neoplastic lesion with an incidence of 2%-9% of all teratomas. It comprises variable amounts of all three germ cell layers. The lesion is graded on histology depending upon the presence of immature components. The most common sites of presentation are the sacrococcygeal area and head and neck with slight female predominance. Our report is based on a case that was received for histopathological evaluation. It consisted of a 20-week fetus with a huge mass protruding from oral orifice measuring 10.8 × 6.7 cm. Histological examination of the tumor revealed immature teratoma-oropharynx.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241275027"},"PeriodicalIF":0.6,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A rare clinical presentation of pedunculated superficial angiomyxoma in the anal canal: A case report.","authors":"Arjeta Podrimaj-Bytyqi, Merita Hashani","doi":"10.1177/2050313X241281263","DOIUrl":"https://doi.org/10.1177/2050313X241281263","url":null,"abstract":"<p><p>Superficial angiomyxoma is an infrequent benign soft tissue tumor, clinically presented as slow-growing, painless cutaneous, or subcutaneous mass. It is mostly described in middle aged population with preference location in trunk, head, neck, and genitalia. Herein, we report a rare growth variant of a solitary superficial angiomyxoma with uncommon site of occurrence in a 39-year-old female. Pedunculated superficial angiomyxoma originating in anal canal is extremely rare. Histological features of the lesion comprising of spindle-shaped and stellate cells dispersed in myxoid stroma and prominent thin-walled blood vessels defined the diagnosis of superficial angiomyxoma. Tumor cells with immunohistochemistry analysis showed positivity for vimentin and CD34 and negativity for S100, while Ki-67 showed a low proliferation index. The recurrence of superficial angiomyxoma is previously described, but in our case no signs of recurrence were seen in follow-up for a period of 6 months. Superficial angiomyxoma should be considered as differential diagnosis with other polypoid or nodular masses in anal canal.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241281263"},"PeriodicalIF":0.6,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142294373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}