OpenMed/multicare-articles huggingface dataset:
Primary Leiomyosarcoma of the Colon: A Report of Two Cases, Review of the Literature, and Association with Immunosuppression for IBD and Rheumatoid Arthritis
Authors: Jessica S Crystal, Kristin Korderas, David Schwartzberg, Steven C Tizio, Min Zheng, Glenn Parker
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Primary leiomyosarcomas (LMS) of the colon are rare and aggressive neoplasms and have been infrequently reported in the literature. These tumors are more aggressive and have poorer prognoses than adenocarcinoma of the colon and are often mistaken as such on initial evaluation. While the former has a clear association with inflammatory bowel disease (IBD), this correlation is not known to exist with LMS and IBD. Nor is there a known link between LMS and the immunosuppression for IBD, despite the known association between malignancy and immunosuppression for other diseases. Due to the low prevalence of this disease entity, there is limited knowledge and literature on the approach to diagnosing and treating these neoplasms, especially in the setting of the aforementioned comorbidities. Here, we describe two cases of this rare entity, presenting in two different circumstances: one in the setting of immunosuppression for IBD and arthritis, with a synchronous urothelial carcinoma, and the second appearing as the source of an acute abdomen. Both diagnoses were established following pathologic analysis.
Case Report: EGFR-Positive Early-Stage Lung Adenocarcinoma Transforming to Squamous Cell Carcinoma After TKI Treatment
Authors: Jiatao Liao, Yuan Li, Chang Liu, Qianqian Long, Jialei Wang
Journal: Front Oncol (2021)
Keywords: egfr amplification, egfr mutation, histological transformation, lung adenocarcinoma, resistance to gefitinib, targeted therapy
MeSH terms: Case Reports

The histological transformation from epidermal growth factor receptor (EGFR)-mutated adenocarcinoma (ADC) to squamous cell carcinoma (SCC) after tyrosine kinase inhibitor (TKI) treatment is rare. We present a case of a patient who transitioned from early-stage primary lung ADC with partial squamous differentiation, EGFR mutation and amplification, to adrenal gland metastasis as SCC with EGFR amplification disappearance 115-months after surgery, during which gefitinib and local radiotherapy were utilized for the metastasis in the right femoral head and mediastinal lymph nodes. This case might indicate a possible mechanism of EGFR inhibition resistance with SCC transition and EGFR amplification loss from the initially well-responding ADC, especially those with SCC or partial squamous differentiation. The optimal post-progression therapy for ADC-SCC patients is challenging and further studies are needed.
Heart Dissemination: A Clinical Case of Melanoma
Authors: Diogo André, Teresa André, Fabiana Gouveia, Rafael Nascimento, António Chaves, Maria Braza O
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Introduction. Primitive malignant heart tumours are rare, specific cases. The presence of cardiac metastases, often in the pericardium, besides indicating disseminated oncological disease, represents a diagnostic challenge since they tend to be asymptomatic. Malignant cutaneous melanoma (MCM) is the neoplasm that most often affects the heart. Patients and Methods. The authors describe a case report of a 59-year-old female patient with a history of non-insulin-treated diabetes mellitus, arterial hypertension, dyslipidemia, and remitting cutaneous malignant melanoma who underwent skin excision, lymphadenectomy, and adjuvant chemotherapy in 1996. In April 2014, she resorted to emergency service due to epigastric pain and progressive tiredness. Due to the persistence of the complaints, abdominal ultrasound was performed, which showed a large pericardial effusion, corroborated later by teleradiography and echocardiography. The patient underwent pericardiocentesis, which isolated neoplastic cells. A computed tomography study of the chest, abdomen, and pelvis revealed bilateral and pericardial pleural effusion, as well as alterations suggestive of pericardial and pulmonary metastasis. Later, fine-needle aspiration puncture of the left posterior cervical nodule confirmed histologically malignant melanoma metastasis. Discussion. Given the natural history of melanoma that when metastasized has an overall survival of 15-20% for 5 years, its metastatic spread may occur several years after its surgical excision. Thus, patients with a history of melanoma and heart failure who develop new cardiac symptoms of unknown aetiology should undergo imaging studies such as echocardiography, computed tomography, and magnetic resonance imaging.
Oral Rehabilitation with Zygomatic Implants in a Patient with Cleft Palate
Authors: Guilherme José Pimentel Lopes de Oliveira, Mariana Schaffer Brackmann, Larissa Carvalho Trojan, Paulo Domingos Ribeiro Júnior, Luis Eduardo Marques Padovan
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Edentulous patients with an atrophic maxilla associated with lip-palate fissures have unpredictable results after undergoing grafting procedures. In situations where the atrophic maxilla does not adequately allow reconstruction, the use of zygomatic implants has been indicated, and probably these implants can be indicated for the rehabilitation of patients with lip-palate fissures. This case report describes the oral rehabilitation treatment of a patient with a lip-palate cleft treated with zygomatic implants and implant-supported fixed prosthesis with two years of follow-up. A 65-year-old female patient had a lip-palate cleft and previously underwent surgery to close the cleft. The patient had a severely atrophic maxilla and had difficulty adapting to a removable total prosthesis. Due to the small amount of bone remaining and extensive fibrous tissue in the palate region, a rehabilitation with conventional implants associated with zygomatic implants was chosen. Two zygomatic implants and a conventional implant were placed on the right side, and a zygomatic implant and conventional implant were placed on the left side; these implants were later activated by a protocol-type prosthesis. The zygomatic implants provided an adequate aesthetic and functional outcome of the prosthesis in a patient with cleft palate.
Percutaneous Balloon Pericardiotomy (PBP) Revisited: A Case Report and Review of Literature
Authors: Raed Aqel, Muawiyah Elqadi, Ahmad Hammouri, Mohammad S Alqadi
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Background:
A Percutaneous Balloon Pericardiotomy (PBP) procedure is a reemerging nonsurgical technique that helps in preventing the reaccumulation of pericardial effusion. It is done percutaneously without general anaesthesia. It has been proved to be effective in alleviating and preventing recurrent pericardial effusion. Case Presentation. We reported a 52-year-old male with stage IV adenocarcinoma causing recurrent pericardial effusion. The patient experienced a worsening shortness of breath. A surgical pericardial window was denied by the surgery team secondary to severe respiratory distress; subsequently, the patient underwent Percutaneous Balloon Pericardiotomy.
Conclusion:
Percutaneous Balloon Pericardiotomy is efficacious and safe when done by well-trained physicians. We think it should be considered as a preferred treatment modality in most sicker patients with recurrent pericardial effusion.
Case Report: Prurigo nodularis-like linear IgA/IgG bullous dermatosis: a case report and literature review
Authors: Yuxi Zhou, Xingli Zhou, Xun Feng, Dengmei Xia, Hua Qian, Hongjie Liu, Xiaoguang Li, Wei Li
Journal: Front Immunol (2023)
Keywords: autoantibody, differential diagnosis, heterogenous, linear iga/igg bullous dermatosis, prurigo nodularis
MeSH terms: Linear IgA Bullous Dermatosis / diagnosis, Linear IgA Bullous Dermatosis / drug therapy, Prurigo / diagnosis, Prurigo / drug therapy, Skin Diseases, Vesiculobullous / diagnosis, Skin Diseases, Vesiculobullous / drug therapy, Review, Case Reports, Autoantibodies, Humans, Immunoglobulin A, Immunoglobulin G, Autoantibodies, Immunoglobulin A, Immunoglobulin G

Linear IgA/IgG bullous dermatosis (LAGBD) is a rare autoimmune subepidermal bullous disorder characterized by linear deposition of concurrent IgA and IgG autoantibodies along the basement membrane zone (BMZ). The clinical features of LAGBD can be diverse, including tense blisters, erosions, erythema, crusting and mucosa involvement, while papules or nodules are generally absent. In this study, we present a unique case of LAGBD, which showed prurigo nodularis-like clinical appearance on physical examination, linear deposition of IgG and C3 along the basement membrane zone (BMZ) in direct immunofluorescence (DIF), IgA autoantibodies against the 97-kDa and 120-kDa of BP180 and IgG autoantibodies against the 97-kDa of BP180 by immunoblotting (IB), while BP180 NC16a domain, BP230, and laminin 332 were negative by enzyme-linked immunosorbent assay (ELISA). After administration of minocycline, the skin lesions improved. We performed a literature review of LAGBD cases with heterogeneous autoantibodies and found clinical presentations of most cases resemble bullous pemphigoid (BP) and linear IgA bullous disease (LABD), which is consistent with previous reported findings. We aim to increase our understanding of this disorder and to enhance the importance of applying immunoblot analyses and other serological detection tools in clinic for precise diagnosis as well as accurate treatment strategy of various autoimmune bullous dermatoses.
Sigmoid Diverticulitis and Perforation Secondary to Biliary Stent Migration
Authors: Margaret Riccardi, Kaitlin Deters, Furrukh Jabbar
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Introduction:
Biliary stent migration occurs in 5-10% of patients. Generally, this is a benign process and stents pass or are retrieved endoscopically. In rare instances, intestinal perforation has occurred.
Presentation of case:
A 79-year-old female presented with a one-day history of abdominal pain. She had undergone an ERCP four weeks previously for primary choledocholithiasis during which time a sphincterotomy and sphincteroplasty were performed, and stents were placed in the common bile duct. CT scan of the abdomen and pelvis demonstrated a biliary stent that had migrated into the sigmoid colon, appearing to perforate the colon with free air throughout the abdomen. Patient was taken for diagnostic laparoscopy and noted to have biliary stent perforating the sigmoid colon. Procedure was converted to open, and Hartmann's procedure was performed with end colostomy.
Conclusion:
Generally, biliary stent migration is a benign process, but in rare instances, intestinal perforation has occurred. Sites of perforation include the duodenum, distal small bowel, and colon. Perforation is more common with an additional pathology present such as hernias or diverticular disease. Migration and perforation also appear more common with straight biliary stents. In patients with known diverticular disease and straight biliary stents, considerations should be made for early stent removal.
A Case of Exertional Heat Stroke Complicated by Hypoxic Hepatitis
Authors: Bertram K Woitok, Shawki Bahmad, Gregor Lindner
Journal: Case Rep Emerg Med (2020)
MeSH terms: Case Reports

Background:
Exertional heat stroke is a life-threatening condition often complicated by multiorgan failure. We hereby present a case of a 25-year-old male presenting with syncope after a 10 km run in 28°C outside temperature who developed acute liver failure. Case Presentation. Initial temperature was found to be 41.1°C, and cooling measures were rapidly applied. He suffered from acute renal failure and rhabdomyolysis and proceeded to acute liver failure (ASAT 6100 U/l and ALAT 6561 U/l) due to hypoxic hepatitis on day 3. He did not meet criteria for emergency liver transplantation and recovered on supportive care.
Conclusions:
Acute liver failure due to heat stroke is a life-threatening condition with often delayed onset, which nevertheless resolves on supportive care in the majority of cases; thus, a delayed referral to transplant seems to be reasonable.
Case Report: Infective Endocarditis Caused by Aspergillus flavus in a Hemodialysis Patient
Authors: Tingting Dai, Qinghua Hu, Zhongshang Xie, Chunhui Li
Journal: Front Med (Lausanne) (2021)
Keywords: aspergillus flavus, catheter infection, endocarditis, hemodialysis, valve replacement
MeSH terms: Case Reports

Fungal endocarditis (FE) is a rare but fatal disease. The incidence of infective endocarditis (IE) in hemodialysis patients with catheters is thought to be obviously higher than that in the general population. We reported a case of IE caused by Aspergillus flavus (A. flavus) in a 36-year-old woman on hemodialysis. Because the blood cultures were persistently negative, so we used mNGS (Metagenomic next generation sequencing) for early clinical diagnosis. After treatment with voriconazole, the patient's condition improved rapidly. She continued oral voriconazole treatment 1 year after discharge and is in good condition. The diagnosis and treatment strategies of FE in hemodialysis patients were discussed.
First Report of a Case of Pneumococcal Meningitis Which Did Not Respond to the Ceftriaxone Therapy despite the Isolated Organism Being Sensitive to This Antibiotic In Vitro
Authors: Maryam Mojtabavi, Hamid Reza Naderi, Ashraf Tavanaee Sani, Mahmood Bagheri, Kiarash Ghazvini
Journal: Case Rep Pulmonol (2011)
MeSH terms: Case Reports

A 60-year-old man presented with pneumococcal meningitis which did not respond to the ceftriaxone therapy, in spite of in-vitro susceptibility (minimal inhibitory concentration of 0.016 μg/dLit) of the isolated organism to this antibacterial agent, although ceftriaxone is still the drug of choice for such pneumococcal meningitis. Review of published articles revealed no report of clinical resistance in organisms which were susceptible to the same antimicrobial agent in vitro. This alarming emergence of isolates with in vivo resistance should be considered and even could lead to a shift in the empirical antibiotic therapy for pneumococcal infections.
Psychiatric and Behavioral Complications of GPi DBS in an Adolescent with Myoclonus Dystonia
Authors: Graciela Kriegel, Melanie I Stuckey
Journal: Case Rep Psychiatry (2019)
MeSH terms: Case Reports

Myoclonus dystonia is a rare movement disorder that often causes significant disability. Deep brain stimulation of the internal pallidum (GPi DBS) is a recommended treatment for those who do not respond to pharmacotherapy or who have intolerable side effects. This paper reports on the case of a 17-year-old male who was admitted to a tertiary level mental healthcare facility for treatment of psychiatric and behavioral symptoms thought to be related to GPi DBS. Prior to GPi DBS insertion, the patient was diagnosed with anxiety and mild obsessive compulsive disorder (OCD). Following insertion, his OCD became severe and he developed depression, Tourette syndrome, and stuttering. His first admission to a psychiatric unit was for management of a manic episode following treatment for depression with fluoxetine, and he began to exhibit severe aggressive behavior. GPi DBS was turned off, but there were neither changes in dystonic movements nor improvement in aggressive behavior or psychiatric symptoms, though stuttering improved. The patient was transferred to a secure treatment centre where he was able to gain control over his behaviors with intense dialectical behavior therapy, but the aggressive behavior and safety concerns continue to persist today.
A rare case of a intraosseous arteriovenous malformation of the temporomandibular joint and mandible - Case report and literature review
Authors: Kristian K Blackhall, Eugenie Ling, Jayanth Kunjur
Journal: Int J Surg Case Rep (2020)
Keywords: arteriovenous malformation, case report, maxillofacial, temporomandibular joint replacement
MeSH terms: Case Reports

Introduction:
This case report looks at a 47 year-old patient, presenting with a rapid onset mass of the left face. This report examines the case, the investigations undertaken, its management and undertakes a literature review of this uncommon condition and rare presentation.
Presentation of case:
This patient had experienced functional deterioration, restriction and an evident swelling of the left face. Having identified the mass to arise from the mandibular condyle, an incisional biopsy was undertaken. The histology was suggestive of an arteriovenous malformation. Surgery was undertaken to excise the entire left mandibular condyle along with the lesion and then replace the temporomandibular joint with a custom made prosthesis.
Discussion:
Arteriovenous malformations, or Haemiangiomas, can arise in any part of the body and can often grow over time. Although benign, lesions can be locally invasive and distort anatomy, resulting in functional issues. Their risk for hemorrhage and potentially significant blood losses is also a risk factor in their presence. Rarely arteriovenous malformations can occur in hard tissue, as in this case distorting and obliterating the temporomandibular joint. One's only recourse is to remove and eliminate the lesion, however in cases such as this significant morbidity could ensue due to functional deficit. Hence consideration must be given to reconstruction.
Conclusion:
Having excised the mass and reconstructed the temporomandibular joint with a titanium prosthesis, the patient experienced a good recovery with a return to normality.
Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation
Authors: Tatyana Gavrilova
Journal: Case Reports Immunol (2019)
MeSH terms: Case Reports

Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient's presentation.
A rare association of congenital diaphragmatic hernia with lower esophageal atresia and perforation
Authors: Narendra Kumar Are, K Nagarjuna, Lavanya Kannaiyan
Journal: Int J Pediatr (2010)
MeSH terms: Case Reports

Congenital diaphragmatic hernia is known to be associated with esophageal atresia, which is a rare association. We report a rare occurrence of congenital diaphragmatic hernia and lower esophageal atresia.
Concurrent Hairy Cell Leukemia and Metastatic Merkel Cell Carcinoma
Authors: Ajay Prakash, Alhossain A Khalafallah
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Hairy cell leukemia (HCL) and Merkel cell carcinoma (MCC) are two rare malignancies with distinct cells of origin. HCL is a lymphoid malignancy of mature B cells, and MCC derives from neuroendocrine cell origin. HCL has a favorable prognosis with most patients achieving long-term remission and potential cure. In contrast, MCC is an aggressive malignancy affecting the skin and can metastasize quickly with a dismal prognosis. Immunocompromised patients, such as those with AIDS, posttransplant, and the elderly, have higher incidences than the general population, suggesting a possible immune mechanism. We report a case where a patient presented with HCL and metastatic MCC synchronously. This is the first reported case of these two rare malignancies occurring concurrently at initial presentation and may represent a role of immunosuppression in the pathogenesis of MCC.
Prolonged Response Induced by Single Agent Vemurafenib in a BRAF V600E Spinal Ganglioglioma: A Case Report and Review of the Literature
Authors: Louis Garnier, François Ducray, Clotilde Verlut, Marcella-Ionela Mihai, Françoise Cattin, Antoine Petit, Elsa Curtit
Journal: Front Oncol (2019)
Keywords: braf, central nervous system tumor, ganglioglioma, safety, spinal cord, tumor regression, vemurafenib
MeSH terms: Case Reports

Spinal ganglioglioma is a rare low-grade, slow-growing tumor of the central nervous system affecting mostly children and young adults. After surgery, some patients show tumor recurrence and/or malignant transformation. Gangliogliomas harbor molecular deficiencies such as mutations in the B-rapidly accelerated fibrosarcoma (BRAF) gene, resulting in activation of a downstream signaling pathway and cancer development. Vemurafenib is a BRAF inhibitor used to treat patients with BRAF V600E-mutated cancer. Although a few studies have reported the clinical responses in gangliogliomas, the sequence and duration of treatment have not been established. We describe a case of an adult with a progressive BRAF V600E mutant spinal cord ganglioglioma 9 years after surgery who was treated with vemurafenib. This treatment resulted in a partial response within 2 months, which was sustained for more than a year. The patient then decided to stop treatment because of side effects. Despite this decision, the tumor showed no sign of progression 21 months after treatment discontinuation. This is the first reported case of a response to vemurafenib in an adult with progressive spinal cord BRAF V600E-mutated ganglioglioma which was sustained after treatment discontinuation.
Delayed Hypoparathyroidism following Thyroidectomy, a Diagnostic Conundrum: A Report of Three Cases from Sri Lanka
Authors: Piyumi Sachindra Alwis Wijewickrama, Henry N Rajaratnam
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Introduction:
Hypoparathyroidism, which is a common complication following total thyroidectomy can be transient in majority and permanent in 1.5% of the patients and usually occurs secondary to an inadvertent removal of parathyroid glands, mechanical or thermal injury or disruption of the vasculature. In some patients, it is observed that symptoms of hypocalcemia can occur for the first time several years after the surgery, which is known as "delayed hypoparathyroidism." We report three cases of delayed hypoparathyroidism from Sri Lanka, presenting several years after total thyroidectomy. Case Presentation. Case 1- a 60-year-old Sri Lankan woman who presented with symptomatic hypocalcemia for the first time, 30 years after total thyroidectomy for follicular thyroid carcinoma. Case 2- a 53-year-old Sri Lankan woman presenting with neuropsychiatric manifestations of hypocalcemia for the first time, 12 years after total thyroidectomy for papillary thyroid carcinoma. Case 3- a 49-year-old Sri Lankan woman developing symptoms of hypocalcemia for the first time, 11 years after completion of thyroidectomy for papillary thyroid carcinoma. All these patients were detected to have low parathyroid hormone levels, without an alternative etiology for hypoparathyroidism, hence leading to a diagnosis of delayed post-thyroidectomy hypoparathyroidism.
Conclusion:
Delayed hypoparathyroidism is a rare phenomenon, which is secondary to progressive atrophy of parathyroid glands and slowly progressive hypovascularization of parathyroids due to scar tissue retraction following thyroidectomy. The nonspecific nature of hypocalcemic symptoms and lack of continuous follow-up for a long time after thyroidectomy could contribute to a further delay in diagnosis. However, it is an important diagnosis to consider in any patient with a history of neck surgery presenting with hypocalcemia, irrespective of the time duration of surgery, as timely diagnosis and treatment can prevent long-term complications of hypocalcemia and improve the quality of life.