OpenMed/multicare-articles huggingface dataset:
Pembrolizumab in a Patient With Heavily Pre-Treated Squamous Cell Thymic Carcinoma and Cardiac Impairment: A Case Report and Literature Review
Authors: Alessandro Cafaro, Alberto Bongiovanni, Valentina Di Iorio, Devil Oboldi, Carla Masini, Toni Ibrahim
Journal: Front Oncol (2020)
Keywords: pd-1, pd-l1, cardiotoxicity, case report, immune checkpoint inhibitors, pembrolizumab, squamous cell, thymic cancer
MeSH terms: Case Reports

Immunotherapy directed at the programmed cell death-1 receptor (PD-1) or its ligand PD-L1 has proven effective in solid malignancies such as melanoma, non-small cell lung cancer (NSCLC), urothelial cancer, renal cell carcinoma, and head and neck cancer. Compared with cytotoxic chemotherapy, radiotherapy, or molecular targeted agents, immunotherapy is an innovative strategy for treating malignancies, with durable clinical responses and manageable adverse events. Thymic carcinomas are extremely rare, constituting only 0.06% of all malignancies, are much more aggressive tumours than thymomas and have a worse prognosis. Nowadays, first line platinum-based chemotherapy for metastatic tumours are the cornerstone of treatment. However, the results of further therapeutic lines for metastatic or relapsed thymic carcinoma are unsatisfactory, with no regimen showing a consistent benefit. Moreover, the rarity of these tumours makes it difficult to carry out clinical trials. Herein we report a remarkable result of 1 year stable disease with good quality of life and no side effects obtained from the use of immunotherapy with pembrolizumab in a case of heavily pre-treated squamous cell thymic carcinoma and cardiac impairment. We also include a literature review of clinical trials on PD-1/PD-L1 inhibitors for the treatment of thymic epithelial cancers, taking a close look at cardiac toxicity.
Argatroban for an alternative anticoagulant in HIT during ECMO
Authors: Alain Rougé, Felix Pelen, Michel Durand, Carole Schwebel
Journal: J Intensive Care (2017)
Keywords: argatroban, extracorporeal membrane oxygenation, heparin-induced thrombocytopenia
MeSH terms: Case Reports

Background:
Extracorporeal membrane oxygenation (ECMO) have become more frequently used in daily ICU practice, heparin-induced thrombocytopenia (HIT) is a rare but life-threatening complication while on extracorporeal membrane oxygenation (ECMO). HIT confirmation directly impacts on anticoagulant strategy requiring no delay unfractionated heparin discontinuation to be replaced by alternative systemic anticoagulant treatment.
Case presentation:
We report two clinical cases of HIT occurring during ECMO in various settings with subsequent recovery with argatroban and provide literature review to help physicians treat HIT during ECMO in clinical daily practice.
Conclusions:
HIT during ECMO is uncommon, and despite the absence of recommendation, argatroban seems to be an appropriate and safe therapeutic option. Finally, there are not enough arguments favouring routine circuit change in the event of HIT during ECMO.
Intraosseous cavernous hemangioma: a rare presentation in maxilla
Authors: Burak Kaya, Servet Elçin Işılgan, Cem Cerkez, Volkan Otrakçı, Savaş Serel
Journal: Eplasty (2014)
Keywords: medpor, cavernous hemangioma, intraosseous, maxilla, orbital protrusion
MeSH terms: Case Reports

Objective:
Hemangiomas are benign vascular lesions mostly arising from soft tissues. However, intraosseous hemangioma is a rare entity, comprising only 1% of benign bone tumors. We describe here the presentation, diagnosis, and treatment of a 42-year-old woman with a painless hard swelling-diagnosed to be intraosseous hemangioma via orbital magnetic resonance imaging-localized on the left infraorbital margin.
Methods:
After en bloc excision of the mass with safety margins through a subciliary incision, the defect was reconstructed via Medpor, which was fixed to the drilled bones with polypropylene sutures.
Results:
Histopathological diagnosis of the specimen revealed intraosseous cavernous hemangioma. There seems to be no recurrence or any cosmetic deformity 3 months postoperatively.
Conclusion:
Total surgical excision is the preferred method of treatment for intraosseous hemangiomas with reconstruction. In this patient, we used Medpor for reconstruction of orbital floor, the infraorbital orbital rim and anterior wall of maxillary sinus. We think that Medpor is a good option since a natural smooth malar contour and adequate orbital rim can be achieved and there is no any other scar.
Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome
Authors: Haruki Matsumoto, Yuya Fujita, Masahiko Fukatsu, Takayuki Ikezoe, Kohei Yokose, Tomoyuki Asano, Naomi Tsuchida, Ayaka Maeda, Shuhei Yoshida, Honami Hashimoto, Jumpei Temmoku, Naoki Matsuoka, Makiko Yashiro-Furuya, Shuzo Sato, Mai Murakami, Hidenori Sato, Chiharu Sakuma, Kazumasa Kawashima, Norshalena Shakespear, Yuri Uchiyama, Hiroshi Watanabe, Yohei Kirino, Naomichi Matsumoto, Kiyoshi Migita
Journal: Front Immunol (2022)
Keywords: uba1, vexas syndrome, auricular chondritis, multiple myeloma, plasma cell dyscrasia
MeSH terms: Bone Diseases, Multiple Myeloma / complications, Multiple Myeloma / diagnosis, Multiple Myeloma / drug therapy, Myelodysplastic Syndromes / complications, Polychondritis, Relapsing / complications, Polychondritis, Relapsing / diagnosis, Polychondritis, Relapsing / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Aged, 80 and over, Humans, Inflammation / complications, Male, Prednisolone, Prednisolone

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants, which are sometimes associated with hematological disorders, including myelodysplastic syndrome (MDS). VEXAS syndrome often overlaps with rheumatic diseases, including relapsing polychondritis. Here, we describe a case of VEXAS syndrome with auricular chondritis and exceptional multiple myeloma (MM). An 83-year-old man was diagnosed with MM, which was treated once by lenalidomide hydrate obtaining a partial response, but the patient did not desire further aggressive therapy. Although the treatment was effective, progressive macrocytic anemia and inflammation of both the ears emerged over the following 2 months. The histological examination of the auricle skin revealed that the perichondrial area was infiltrated by inflammatory cells, leading to the diagnosis of auricular chondritis. He was treated with oral prednisolone 40 mg/day, and his symptoms rapidly resolved. The re-evaluation of the histopathological bone marrow findings revealed vacuoles in the myeloid precursor cells without myelodysplasia-related changes. Sanger sequencing of UBA1 was performed using genomic DNA from peripheral blood leukocytes and revealed a somatic variant (c.122T>C:p.Met41Thr) consistent with VEXAS syndrome. This demonstrates that patients with chondritis can have complications with MM despite the absence of underlying MDS. A strong association exists between UBA1 variants and the risk of MDS; however, it remains elusive whether somatic UBA1 variants contribute to the development of plasma cell dyscrasia without MDS. Hence, we discuss the possible relationship between auricular chondritis and MM on a background of VEXAS syndrome.
Emergence of primary NNRTI resistance mutations without antiretroviral selective pressure in a HAART-treated child
Authors: Elizabeth S Machado, Adriana O Afonso, Dwight V Nissley, Philippe Lemey, Silvia M Cunha, Ricardo H Oliveira, Marcelo A Soares
Journal: PLoS One (2009)
MeSH terms: Antiretroviral Therapy, Highly Active, Drug Resistance, Multiple, Viral / genetics, HIV Infections / virology, HIV-1 / genetics, Infectious Disease Transmission, Vertical, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adult, Didanosine / administration & dosage, Didanosine / pharmacology, Didanosine / therapeutic use, Female, HIV Infections / congenital, HIV Infections / drug therapy, HIV Infections / transmission, HIV-1 / drug effects, HIV-1 / isolation & purification, Humans, Infant, Newborn, Lamivudine / administration & dosage, Lamivudine / pharmacology, Lamivudine / therapeutic use, Mutation, Missense, Nelfinavir / administration & dosage, Nelfinavir / pharmacology, Nelfinavir / therapeutic use, Phylogeny, Point Mutation, Pregnancy, Pregnancy Complications, Infectious / virology, Selection, Genetic, Zidovudine / administration & dosage, Zidovudine / pharmacology, Zidovudine / therapeutic use, Lamivudine, Zidovudine, Nelfinavir, Didanosine

Objective:
The use of antiretrovirals (ARV) during pregnancy has drastically reduced the rate of the human immunodeficiency virus perinatal transmission (MTCT). As a consequence of widespread ARV use, transmission of drug resistant strains from mothers to their babies is increasing. Ultra-sensitive PCR techniques have permitted the quantification of minority viral populations, but little is known about the transmission of drug-resistant HIV-1 minority population in the setting of MTCT.
Methodology/principal findings:
We describe the case of a female child born to an HIV-infected mother, which had not taken any ARV during the pregnancy. The child's first genotype demonstrated a minor non-nucleoside reverse transcriptase inhibitor (K101E), and during her treatment with reverse transcriptase and protease inhibitors full resistance to non-nucleoside reverse transcriptase inhibitors (NNRTI) emerged (G190A). Phenotypic/genotypic analysis of variant quasispecies through yeast TyHRT assay was conducted to characterize minority resistant viral strains circulating in both mother and child. Maximum likelihood and Bayesian MCMC phylogenetic analyses were performed with samples from the pair to assess genetic relatedness among minor viral strains. The analysis showed that the child received a minor NNRTI resistant variant, containing the mutation K101E that was present in less than 1% of the mother's quasispecies. Phylogenetic analyses have suggested common ancestry between the mother's virus strain carrying K101E with the viral sequences from the child.
Conclusion:
This is the first documentation of MTCT of a minority resistant strain of HIV-1. The transmission of minor resistant variants carries the threat of emergence of multi-drug primary mutations without identified specific selective pressures.
Case report on the successful removal of an organic penetrating object into the orbit
Authors: Leyla Rezae, Farid Najafi, Mehdi Moradinazar, Tooraj Ahmadijouybari
Journal: J Inj Violence Res (2014)
MeSH terms: Eye Foreign Bodies / diagnosis, Eye Foreign Bodies / etiology, Eye Foreign Bodies / physiopathology, Eye Foreign Bodies / surgery, Eye Injuries, Penetrating / diagnosis, Eye Injuries, Penetrating / etiology, Eye Injuries, Penetrating / physiopathology, Eye Injuries, Penetrating / surgery, Ophthalmologic Surgical Procedures / methods, Orbit / diagnostic imaging, Orbit / injuries, Orbit / surgery, Case Reports, Accidental Falls, Child, Humans, Male, Postoperative Care / methods, Tomography, X-Ray Computed, Treatment Outcome

The penetration of objects into the orbit can lead to blindness and even to the death of the patient. The penetration of organic objects longer than 7 cm into the eye is a rare phenomenon. In this study, we report a case in which a 6-year-old boy fell on a pencil which penetrated the upper side of his right eye orbit. Because of the agitation of the child and the lack of access, it was not possible to perform a brain or orbital computed tomography (CT) scan, but an X-ray showed that the object had gone directly into the retro-orbital space. As the result of a clinical diagnosis, it was possible to ascertain that the globe was severely hypertonic. Throughout this process the child was extremely agitated. After consultation with the neurosurgery service, the patient was rushed to the operation room. After anesthesia and superanasal peritomy, the pencil was removed slowly from the orbit. Neurology and CT scans after surgery didn't show any ocular or brain symptoms. Once the patient's general condition had improved sufficiently and his visual acuity had returned to 10/10, he was discharged from the hospital. This case shows that even without specialized tests, such as CT scans, an organ can be saved.
Case Report: Pharmacogenetics Applied to Precision Psychiatry Could Explain the Outcome of a Patient With a New CYP2D6 Genotype
Authors: Elena Marcos-Vadillo, Lorena Carrascal-Laso, Ignacio Ramos-Gallego, Andrea Gaedigk, Belén García-Berrocal, Eduardo Mayor-Toranzo, Alfonso Sevillano-Jiménez, Almudena Sánchez, María Isidoro-García, Manuel Franco-Martín
Journal: Front Psychiatry (2022)
Keywords: antipsychotic agents, cytochrome p450 enzyme system, pharmacogenetics, precision medicine, psychotic disorders
MeSH terms: Case Reports

Precision medicine applied to psychiatry provides new insight into the promising field of precision psychiatry. Psychotic disorders are heterogeneous, complex, chronic, and severe mental disorders. Not only does the prognosis and the course of the disease vary among patients suffering from psychotic disorders, but the treatment response varies as well. Although antipsychotic drugs are the cornerstone of the treatment of schizophrenia, many patients only partially respond to these drugs. Furthermore, patients often experience adverse events which can lead to poor treatment adherence. Interindividual variability in drug response could be related to age, gender, ethnicity, lifestyle factors, pharmacological interactions, obesity, and genetics, all of which influence the process of drug metabolism. Commonly prescribed antipsychotics are metabolized by cytochrome P450 (CYP450) enzymes, and CYP450 genes are highly polymorphic. Pharmacogenetic testing is increasingly being used to predict a patient's drug response and could help to find the most appropriate therapy for an individual patient. In this report, we describe a psychotic patient who did not receive adequate clinical follow-up and subsequently presented adverse events, which could be explained by his pharmacogenetic profile and the drug interactions resulting from the polypharmacy prescribed.
Primary B cell lymphoma of the tongue: a case report
Authors: Mounir Hmidi, Nabil Touiheme, Ali Elboukhari, Mounir Kettani, Charafeddine Elmejareb, Abdelhamid Messary
Journal: Pan Afr Med J (2012)
Keywords: lymphoma, extranodal lymphoma, non-hodgkin, tongue
MeSH terms: Lymphoma, B-Cell / diagnosis, Lymphoma, B-Cell / therapy, Tongue Neoplasms / diagnosis, Tongue Neoplasms / therapy, Case Reports, Aged, Humans, Male

Malignant lymphoma of the oral cavity is rare and of the tongue even rarer. Location of oral lymphomas is more frequent in masticatory mucosa than in movable mucosa; the lingual and buccal mucosa is rarely involved; whereas the gingival vestibule and Waldeyer's ring seem to be the most frequent site of occurrence. We describe a 78 year old male who presented with a mass lesion primarily involving the base of tongue and was diagnosed as diffuse large B cell lymphoma. The patient was treated with CHOP chemotherapy and radiotherapy. The lesion was completely disappeared). He has currently remained disease free for 16 months. Although oral lymphoma of tongue is very uncommon, it should always be considered in differential diagnosis of various benign and malignant lesions in this region. A proper clinical evaluation, histopathologic as well as immunohistochemical evaluation of biopsy specimen may aid in the diagnosis and thus, help in proper management.
Fabricating a soft liner-retained implant-supported palatal lift prosthesis for an edentulous patient: a case report
Authors: Omid Savabi, Ebrahim Ataei, Niloufar Khodaeian
Journal: Case Rep Dent (2012)
MeSH terms: Case Reports

This case report describes fabrication of a palatal lift prosthesis for a quadriplegic edentulous 30-year-old male with past head traumatic injury. We constructed an implant supported bar and used a soft-lining material for the maxillary palatal lift prosthesis to minimize the possibility of implant overloading and also provide a less complex and less expensive procedure for this patient.
Case Report: Recurrent Malignant Struma Ovarii With Hyperthyroidism and Metastases, A Rare Case Report and Review of the Literature
Authors: Ruyi Zhang, Xin Tian, Ying Luo, Haiwei Dong, Weijun Tian, Yujie Zhang, Dong Li, Haoran Sun, Zhaowei Meng
Journal: Pathol Oncol Res (2022)
Keywords: ca125, case report, hyperthyroidism, struma ovarii, surgery, thyroglobulin
MeSH terms: Dermoid Cyst, Hyperthyroidism, Ovarian Neoplasms / pathology, Struma Ovarii / diagnosis, Struma Ovarii / pathology, Struma Ovarii / surgery, Case Reports, Review, Adult, Female, Humans, Teratoma, Teratoma, Ovarian

Background: SO (Struma ovarii) is a rare form of ovarian teratoma which originates from ovarian dermoid cysts. Due to the rarity of this disease, relevant studies might not be sufficiently documented, especially cases with hyperthyroidism and multiple metastases. Case Presentation: A 40-year-old female patient was admitted to our hospital due to management of early pregnancy along with a recurrent abdominal and pelvic mass. Contrast-enhanced CT images showed an irregular mass (10.7 × 8.6 × 12.8 cm) located in the right side from the hypogastrium to the pelvic cavity and another mass (3.8 × 3.7 cm) in the liver. Laboratory examination showed that CA125 (Carbohydrate Antigen-125) was 118.10 U/mL, Tg (thyroglobulin) was >300 ng/ml, FT4 (free thyroxine) was 22.11 pmol/L, and TSH (thyroid-stimulating hormone) was <0.004 mIU/L. She subsequently underwent liver mass dissection, omentectomy, tumor dissection, peritoneal nodule resection, as well as rectal anterior wall nodule resection. The patient was diagnosed with malignant SO (papillary type) along with multiple metastases. Also, we conducted a literature review based on 290 SO cases from 257 articles. Conclusion: This study showed that malignant SO might be prone to relapse and metastasize (a metastatic rate of 52.94%) and therefore aggressive management might need to be recommended for malignant SO. Also, laparotomy might need to be recommended for large tumors that cannot be resected by laparoscopic surgery since these tumors might be prone to rupture and thus produce peritoneal implants. Furthermore, Graves' disease might need to be considered in the differential diagnosis.
Management of Refractory Orofacial Dyskinesia Caused by Anti- N-methyl-d-aspartate Receptor Encephalitis Using Botulinum Toxin
Authors: Feixia Zheng, Xiuyun Ye, Xulai Shi, Neha Devi Poonit, Zhongdong Lin
Journal: Front Neurol (2018)
Keywords: anti-n-methyl-d-aspartate receptor encephalitis, botulinum toxin, dyskinesia, pediatrics, rituximab, stereotypic movement disorder, vecuronium
MeSH terms: Case Reports

The use of botulinum neurotoxin serotype A (BoNT-A) injections for the treatment of orofacial dyskinesia secondary to anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid. The orofacial dyskinesia worsened despite the aggressive use of first-line immunotherapy and second-line immunotherapy (rituximab), and resulted in a potentially fatal self-inflicted oral injury. We urgently attempted symptomatic management using BoNT-A injections in the masseter, and induced muscle paralysis using vecuronium. The patient's severe orofacial dyskinesia was controlled. We observed the effects of the BoNT-A injections and a tapering off of the effects of vecuronium 10 days after the treatment. The movement disorder had improved significantly 4 weeks after the first administration of rituximab. The injection of BoNT-A into the masseter may be an effective treatment for medically refractory orofacial dyskinesia in pediatric patients with anti-NMDAR encephalitis. We propose that the use of BoNT-A injections should be considered early to avoid self-inflicted oral injury due to severe refractory orofacial dyskinesia in patients with anti-NMDAR encephalitis.
Roof-dependent atrial flutter with epicardial conduction pathway masked by left atrium posterior wall debulking ablation
Authors: Masayuki Ishimura, Kayo Yamamoto, Masashi Yamamoto, Toshiharu Himi, Yoshio Kobayashi
Journal: Ann Noninvasive Electrocardiol (2023)
Keywords: atrial fibrillation, ethanol infusion, posterior wall isolation, roof-dependent atrial flutter, septo-pulmonary bundle, vein of marshall
MeSH terms: Atrial Fibrillation / surgery, Atrial Flutter / surgery, Catheter Ablation, Pulmonary Veins, Case Reports, Aged, Cytoreduction Surgical Procedures, Electrocardiography, Heart Atria / diagnostic imaging, Heart Atria / surgery, Humans, Treatment Outcome

Roof-dependent atrial flutter (AFL) is a major tachyarrhythmia rotating in the left atrium (LA). Here, we describe a case of roof-dependent AFL during atrial fibrillation ablation. LA posterior wall (LAPW) debulking ablation was performed before the induction. Atrial tachycardia (AT) was induced by burst pacing, and the 3D mappings showed a focal pattern from the LA inferior area. The post-pacing interval from the roof and bottom line corresponded to the AT cycle length. The LAPW debulking ablation masked roof-dependent AFL due to the lack of endocardium potentials in the LAPW. We report that roof-dependent AFL connected by epicardium fibers.
Systemic paracoccidioidomycosis in a patient with enzymatic myeloperoxidase deficiency and acute lymphoblastic leukemia: case report
Authors: Sebastián Hoyos, Cristián Camilo Agudelo, Diana Mercedes Lozano, Luis Eduardo Buitrago
Journal: Bull Natl Res Cent (2022)
Keywords: acute lymphoblastic leukemia lymphoblastic, case report, enzymatic deficiency, myeloperoxidase deficiency, paracoccidioidomycosis
MeSH terms: Case Reports

Background:
Paracoccidioidomycosis is a systemic fungal infection that is potentially fatal, and the most prevalent of its kind in Latin America. The predisposition to infection appears to be related to abnormalities in cellular immunity, given its low prevalence in endemic regions. The role of myeloperoxidase deficiency has not been elucidated.
Case presentation:
We present a case of 48-year-old female patient with acute lymphoblastic leukemia, stem cell transplant candidate, who developed a fever with lymphadenopathy and lung nodules, consistent with paracoccidioidomycosis infection, in whom a myeloperoxidase deficiency was later discovered. The treatment of the hematologic malignancy had a good impact solving the enzymatic deficiency and antifungal therapy achieve controlling the infection.
Conclusions:
This case lays out the possible association between acute leukemia, an alteration in neutrophil function (needed to fight fungal infections) and an infection due to Paracoccidioides brasiliensis.
Use of the Tei Index in the Conservative Management of TRAP Sequence Pregnancies Diagnosed during the Periviable Period: A Case Series
Authors: Kristina Martimucci, Theresa Kuhn, Robyn Bilinski, Jesus Alvarez-Perez
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Twin Reverse Arterial Perfusion (TRAP) Sequence is a rare complication of monochorionic pregnancies. Without intervention, the viable pump twin in a case of TRAP Sequence may develop high output cardiac failure leading to an intrauterine fetal demise. We present 3 cases of TRAP Sequence pregnancy diagnosed during the second or third trimesters of pregnancy. There are minimal sonographic tools for the guidance of a fetal therapeutic interventional procedure during the second trimester or timing of delivery during the third trimester to reduce morbidity and mortality of a viable fetus. Tei index may be a useful sonographic tool in the management of TRAP Sequence during the second or third trimester of pregnancy.