OpenMed/multicare-articles huggingface dataset:
Case Report: Local Cytokine Release Syndrome in an Acute Lymphoblastic Leukemia Patient After Treatment With Chimeric Antigen Receptor T-Cell Therapy: A Possible Model, Literature Review and Perspective
Authors: Chengxin Luan, Junjie Zhou, Haixia Wang, Xiaoyu Ma, Zhangbiao Long, Xin Cheng, Xiaowen Chen, Zhenqi Huang, Dagan Zhang, Ruixiang Xia, Jian Ge
Journal: Front Immunol (2021)
Keywords: acute lymphoblastic leukemia, chimeric antigen receptor t therapy, local cytokine-release syndrome, possible model, systemic cytokine-release syndrome
MeSH terms: Cytokine Release Syndrome / etiology, Immunotherapy, Adoptive / adverse effects, Precursor Cell Lymphoblastic Leukemia-Lymphoma / therapy, Receptors, Chimeric Antigen / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Review, Female, Humans, Middle Aged, Receptors, Chimeric Antigen / immunology, Receptors, Chimeric Antigen

Chimeric antigen receptor T (CAR-T) cell therapy has achieved remarkable clinical efficacy in treatment of many malignancies especially for B-cell hematologic malignancies. However, the application of CAR-T cells is hampered by potentially adverse events, of which cytokine release syndrome (CRS) is one of the severest and the most studied. Local cytokine-release syndrome (L-CRS) at particular parts of the body has been reported once in a while in B-cell lymphoma or other compartmental tumors. The underlying mechanism of L-CRS is not well understood and the existing reports attempting to illustrate it only involve compartmental tumors, some of which even indicated L-CRS only happens in compartmental tumors. Acute lymphoblastic leukemia (ALL) is systemic and our center treated a B-cell ALL patient who exhibited life threatening dyspnea, L-CRS was under suspicion and the patient was successfully rescued with treatment algorithm of CRS. The case is the firstly reported L-CRS related to systemic malignancies and we tentatively propose a model to illustrate the occurrence and development of L-CRS of systemic malignancies inspired by the case and literature, with emphasis on the new recognition of L-CRS.
Torsion of an Epididymal Cyst: A Rare Finding on Scrotal Exploration for Acute Scrotum
Authors: A M Omar Mohamed Ozaal, B Pragalathan, S Lavanya, S T Sarma
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Torsion of epididymal cyst (EC) is an exceedingly rare cause of acute scrotum in both children and adults. We add our case as the ninth case to literature which was an 8-year-old child presented with features of acute scrotum with history of EC on conservative management. Doppler sonography showed perfused normal bilateral testes and a 4.1 × 1.7 cm septate cystic lesion of right epididymis. On scrotal exploration, we found a haemorrhagic cystic lesion attached to the upper pole of right testis and twisted for 540 degrees with normal testis and appendage. Cyst was excised, and histopathology revealed a haemorrhagic EC. Our case was peculiar due to, presenting as acute scrotum in a child of 1-10 years age group who was conservatively managed for right-sided EC and presence of 540 degrees torsion.
Biloma Secondary to Percutaneous Liver Biopsy Case Report
Authors: Marcos Aranda, Jacqueline Mulhall, Alexander Friedman, Joel Brockmeyer
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Biloma and biliary leak after percutaneous liver biopsy (PLB) are rare. Previous cases are largely in the setting of transplant, oncology, and cirrhotic patients. Patients can be asymptomatic, peritoneal, or present with obstructive symptoms, including bilirubinemia. A 55-year-old male referred for transaminitis attributed to nonalcoholic fatty liver disease (NAFLD) underwent an ultrasound- (US-) guided PLB. He returned the same day with abdominal pain, normal vitals, a nontender abdomen, and a leukocytosis. He was found to have a subcapsular fluid collection attributed to a hematoma. He underwent observation and was discharged. He presented 4 days later with fever, tachycardia, leukocytosis, and bilirubinemia. CT demonstrated growth of the subcapsular fluid collection. Percutaneous drainage revealed bilious fluid. He was transferred for endoscopic retrograde cholangiopancreatography (ERCP). A right biliary branch was stented, and he was discharged the following day with antibiotics. US should be utilized for percutaneous biopsies to avoid biliary complications. Typical presentations of biliary complications include abdominal pain and biliary obstruction. The differential diagnosis for perihepatic and subcapsular fluid collections after PLB should include bile. ERCP should be offered for the treatment of larger or symptomatic collections.
Survival after abdominal impalement with a diver's harpoon
Authors: Abdellatif Djelti, Hamida Jneid
Journal: Int J Surg Case Rep (2020)
Keywords: abdominal impalement, harpoon gun, hepatic injury, survival, transfixing injury
MeSH terms: Case Reports

Introduction:
Abdominal impalement by spear is fortunately exceptional. In the literature, only twenty cases have been so far reported. In most cases, transfixing wounds result in serious visceral and/or vascular lesions with a high risk of mortality. Those cases need careful planning and a preoperative order to properly control the spring harpoon during extraction. The extraction of the spear is a delicate process requiring a thorough study of each case to avoid further damage to the patient. This case is written following the SCARE scale for case report writing.
Presentation of case:
We report the case of a 39-year patient, admitted to the hospital only after 13 h after the accident. No visceral or vascular lesion was observed, except minimal liver damage to the 3rd liver segment. The liver was almost spared in only the third segment was lightly touched and regarding the vascular and visceral apparatus, no serious lesions were highlighted.
Discussion:
The marking problem we encountered with this patient was that the harpoon ended by a mobile spring beard, which led to a profound lesion and also, to a certain difficulty to get access to it. Also, because of the aorta wound, the surgical approach was chosen, allowing a good exposure of the object.
Conclusion:
When it comes to abdominal impalement, following the rules of transporting and mobilizing the patient, using the infectious risk prevention and knowing the importance of the initial assessment of damage aided by radiology, can allow better management of the situation.
A case of chronic myeloid leukaemia presenting as megakaryocytic blast crisis (AML M7)
Authors: Ponnuswamy Karkuzhali, Velusamy Shanthi, Thiruvengadam Usha
Journal: Ecancermedicalscience (2013)
Keywords: aml m7, acute megakaryocytic leukaemia, blastic crisis, chronic myeloid leukaemia
MeSH terms: Case Reports

Acute megakaryocytic leukaemia (AMeL) is a rare subtype of acute myeloid leukaemia, which can be frequently misdiagnosed as acute myelofibrosis or myelosclerosis [1]. Chronic myeloid leukaemia (CML) presenting primarily as megakaryocytic blast crisis is very rare, with very few case reports published to date [2, 3]. This case report describes a 36-year-old woman who presented with anaemia and massive splenomegaly with peripheral blood and bone marrow showing features of AMeL. Reverse transcriptase polymerase chain reaction and gel-electrophoretic study of peripheral blood leucocytes demonstrated breakpoint cluster region-Abelson oncogene translocation encoding for p210 fusion protein. Megakaryocytic blast crisis as the primary presentation of CML is very rare and requires clinical correlation and additional cytogenetic studies to determine the diagnosis.
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
Authors: Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

SOX5 encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to SOX5-involving deletions, examples of pathogenic SOX5 small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the SOX5 microdeletion syndrome. Here a novel SOX5 loss-of-function point mutation, c.13C>T (p.Arg5X), is reported, identified in the course of exome sequencing applied to the diagnosis of an unexplained adult-onset motor disorder. Aged 43 years, our female index patient demonstrated abrupt onset of mixed generalized hyperkinesia, with dystonic and choreiform movements being the most salient features. The movement disorder was accompanied by behavioral problems such as anxiety and mood instability. The mutation was found to be inherited to the patient's son who manifested abnormal behavior including diminished social functioning, paranoid ideation, and anxiety since adolescence. Our results expand the compendium of SOX5 damaging single-nucleotide variation mutations and suggest that SOX5 haploinsufficiency might not be restrictively associated with childhood-onset syndromic disease.
Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report
Authors: Qingdan Xu, Ping Sun, Chaoyi Feng, Qian Chen, Xinghuai Sun, Yuhong Chen, Guohong Tian
Journal: Front Med (Lausanne) (2022)
Keywords: leber hereditary optic neuropathy, mitochondrial dna, mitochondrial disorder, ophthalmoplegia, optic atrophy
MeSH terms: Case Reports

The T12811C mitochondrial DNA (mtDNA) mutation has been reported in Leber hereditary optic neuropathy (LHON) previously, with vision loss as the main manifestation. The involvement of other organ systems, including the central and peripheral nervous system, heart, and extraocular muscles, has not been well described. This case series report investigated four patients with T12811C mtDNA mutation, verified through a next generation sequencing. Two male patients presented with bilateral subacute visual decrease combined with involvement of multiple organ systems: leukoencephalopathy, hypertrophic cardiomyopathy, neurosensory deafness, spinal cord lesion and peripheral neuropathies. Two female patients presented with progressive ptosis and ophthalmoplegia, one of whom also manifested optic atrophy. This study found out that patients harboring T12811C mtDNA mutation manifested not only as vision loss, but also as a multi-system disorder affecting the nervous system, heart, and extraocular muscles.
Recurrent rhinosporidiosis: coblation assisted surgical resection-a novel approach in management
Authors: Iram Khan, Shweta Gogia, Alok Agarwal, Ajay Swaroop
Journal: Case Rep Otolaryngol (2014)

Recurrent rhinosporidiosis is a chronic granulomatous disease with a known tendency to reoccur. Coblation EVAC 70 is a novel surgical tool which seems to provide excellent option in management of this notorious disease. We present an interesting case and the innovative approach in its management, using Coblation system. Introduction. Rhinosporidiosis seeberi causes a chronic granulomatous disease of upper airway, usually involving the nose and nasopharynx, and has a notorious tendency to reoccur. The current line of management is surgical excision of the lesion along with cauterization of the base, which does not prevent reoccurrence of the disease. Case Presentation. A 65-year-old male resident of rural India reported a history of breathing difficulty and change in voice. Patient is a Hindu priest by profession, who according to their rituals has to take bath in local pond or river. Conclusion. Rhinosporidiosis is a difficult to treat pathology due to its tendency to reoccur. Till date the management of the disease is far from satisfactory. Coblation system which has already found its roots in otorhinolaryngology can be used as a novel tool in surgical resection of recurrent rhinosporidiosis and has added advantage of low temperature dissection along with clear surgical field due to constant suctioning.
Clinical and Radiological Follow-Up of a Pfizer-BioNTech COVID-19 Vaccine-Induced Hemichorea-Hemiballismus
Authors: Cédric Batot, Maryane Chea, Sinead Zeidan, Marie Mongin, Gabriel Pop, Julie Mazoyer, Bertrand Degos
Journal: Tremor Other Hyperkinet Mov (N Y) (2022)
Keywords: covid-19, fdg-tep, hemichorea, hemiballismus, vaccine
MeSH terms: COVID-19, Chorea / etiology, Dyskinesias / diagnostic imaging, Dyskinesias / etiology, Case Reports, Aged, 80 and over, BNT162 Vaccine, COVID-19 Vaccines / adverse effects, Fluorodeoxyglucose F18, Follow-Up Studies, Humans, Male, COVID-19 Vaccines, Fluorodeoxyglucose F18, BNT162 Vaccine

Background:
Hemichorea-hemiballismus is a rare hyperkinetic movement disorder.
Case report:
A 90-year-old male developed left hemichorea-hemiballismus after his second dose of the Pfizer-BioNTech COVID-19 vaccine. A wide range of investigations including magnetic resonance imaging did not reveal an alternative cause. [18F]-fluorodeoxyglucose-positron emission tomography (FDG-PET) showed increases in right putamen fixation compared to the left side. The patient showed significant improvement after five days of intravenous corticosteroids, with a normal FDG-PET.
Discussion:
This hemichorea-hemiballismus case shows dynamic restoration of putamen metabolism mirroring clinical evolution after administration of corticosteroids, suggesting an autoimmune COVID-19 vaccine-induced reaction.
Therapeutic Challenges for Elderly Patients with Primary Hyperparathyroidism
Authors: Kenneth Sluis, Hyon Kim, Yuling He, Beatrice Wong, Xiangbing Wang
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Primary hyperparathyroidism (PHPT) predominantly affects older adults, and parathyroidectomy can achieve definitive cure in symptomatic PHPT and asymptomatic meeting surgical criteria. As the population continues to age, the treatment of PHPT in octogenarians and nonagenarians presents a clinical conundrum. This case series presents the management of eight patients 85 years of age and older diagnosed with PHPT. A retrospective chart review of patients diagnosed with primary hyperparathyroidism were identified in a single institution. Those patients 85 years of age and older who were followed up for over one year were included in this case series. The literature on treatment options for this age group was also reviewed. Eight cases of PHPT patients aged 88 ± 2.5 years old with a follow-up average of 5.6 ± 4.4 years were reported in our case series. Six PHPT patients were medically managed and two PHPT patients underwent parathyroid resection. Most of the medically managed PHPT patients except for one had long-term stability of disease for over five years. The treatment of PHPT diagnosed in patients over 85 years of age presents a clinical challenge for which there is no clear consensus guideline. Our case series supports that medical therapy is a feasible option for PHPT patients over 85 years old.
Placenta increta in an unscarred and bicornute uterus
Authors: Namia Nazir, Daniya Khan, Farah Deeba Nasrullah, Riffat Jaleel
Journal: Pak J Med Sci (2023)
Keywords: bicornute uterus, placenta increta, unscarred uterus
MeSH terms: Case Reports

Morbidly adherent placenta is a spectrum of obstetric complication which is life threatening to both mother and fetus. Congenital uterine malformation is a rare cause of such a condition. Here we present a case report of placenta increta in bicornute, unscarred uterus. An 18 year old para1+1 presented in emergency with history of vaginal delivery of still birth baby followed by vaginal bleeding with retained placenta. Her Examination under anaesthesia and failed attempt of manual removal of the placenta performed in emergency followed by Doppler ultrasound showed a bicornuate uterus with possibility of placenta increta, later this diagnosis was confirmed on magnetic resonance imaging (MRI). Patient managed with injection methotrexate along with folinic acid followed by removal of placenta under general anesthesia, hence we preserved her fertility. The aim of this report is to emphasize the importance of this rare but a possible association of nonscar and malformed uterus with spectrum of abnormal placentation. Obstetrician should run a full set of investigations in such cases to prevent maternal and fetal mortality and morbidity.
Complete heart block in thyrotoxicosis, is it a manifestation of thyroid storm? A case report and review of the literature
Authors: Rashed Al Bannay, Aysha Husain, Saeed Khalaf
Journal: Case Rep Endocrinol (2012)

Thyrotoxicosis complicated by advance degree atrioventricular block, a rare complication of a common disease. The term apathetic thyrotoxicosis, where palpitations and cardiac involvement are the sole manifestations of disease, is well known. Thyroxin's ability to sensitize the catecholamine receptors causing tachyarrhythmias is well addressed. However, as an aetiology for advanced heart block, thyrotoxicosis is ranked as one of the rarest.
Primitive Neuroectodermal Tumor with Glioblastoma Multiforme Components in an Adult: A Collision Tumor
Authors: Victoria Forbes, James Vredenburgh
Journal: Cureus (2016)
Keywords: adult, collision tumor, craniospinal radiation, glioblastoma multiforme, platinum-based chemotherapy, primitive neuroectodermal tumor, temozolomide
MeSH terms: Case Reports

We report a rare case of a central nervous system collision tumor in a 40-year-old woman. Histopathological examination of her large temporal tumor revealed two different components making up the tumor tissue. The predominant component of the tumor was found to be a primitive neuroectodermal tumor. The other component was glioblastoma multiforme. Both of these tumors carry a poor prognosis, and primitive neuroectodermal tumors are extremely uncommon in adults. Central nervous system neoplasms with the combined features of both primitive neuroectodermal tumor and malignant glioma are very rare and represent a diagnostic and treatment predicament. The patient underwent surgical resection, radiation therapy, and chemotherapy targeting both the primitive neuroectodermal tumor and glioblastoma. Our patient has been fortunate in not showing any sign of recurrence and will celebrate the third anniversary since her diagnosis this January.
Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature
Authors: Puneet Ahluwalia, Balagopal Nair, Ginil Kumar
Journal: Case Rep Urol (2013)

Introduction. The recently recognized renal cell carcinomas associated with Xp11.2 translocations are rare tumors predominantly reported in children. Chromosome Xp11.2 translocation results in gene fusion related to transcription factor E3 (TFE3) that plays an important role in proliferation and survival. Case Report. Herein, we present two cases of a TFE3 translocation-associated RCC in young female adults, one detected incidentally and the other one presenting with gross hematuria. Tumor is characterized by immunohistochemistry and a literature review with optimal treatment regimen is presented. Discussion. Xp11.2 translocation RCCs in adult patients are associated with advanced stages, large tumors, and extracapsular disease and usually have an aggressive clinical course. Conclusion. In TFE3 RCC, the genetic background may not only contribute to tumorigenesis, but also determine the response to chemotherapy and targeted therapy. Therefore it is necessary to diagnose this tumor entity accurately. Because of the small number of TFE3 gene fusion-related renal tumors described in the literature, the exact biologic behavior and impact of current treatment modalities remain to be uncertain.
Isolated Bulbar Conjunctival Kaposi's Sarcoma as a Primary Presentation of AIDS: A Case Report
Authors: Sofia Maia, Miguel Gomes, Luís Oliveira, Paulo Torres
Journal: Case Rep Ophthalmol Med (2013)

Kaposi's sarcoma (KS) is a malignant vascular tumor, caused by the human herpesvirus 8. It is one of the commonest tumors in human immunodeficiency virus (HIV) patients and not uncommonly the first manifestation of acquired immunodeficiency syndrome (AIDS). Case. We present a case of an isolated bulbar conjunctival KS on a 43-year-old HIV positive male, with no other lesions. Excision and cryotherapy were performed, and the patient remains free of lesions to date. Conclusion. Isolated bulbar conjunctival KP is an unusual site for its initial presentation and must be kept in mind in HIV positive patients.
A Rare Case of Acute-Onset Spastic Quadriparesis Caused by a Chondroma of the Cervical Spine
Authors: Kaori Momota, Toshihiko Nishisho, Ryo Miyagi, Shunichi Toki, Kazuta Yamashita, Fumitake Tezuka, Yoichiro Takata, Toshinori Sakai, Akihiro Nagamachi, Toru Maeda, Koichi Sairyo
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Chondromas are benign cartilaginous tumors that occur very rarely in the spine. Moreover, chondromas of the extraskeletal origin are also very rare. In this case report, we describe an extremely rare case of chondroma arising from the ligamentum flavum in the cervical spine. A 67-year-old man presented to our clinic with acute-onset spastic quadriparesis. We performed emergent magnetic resonance imaging and found an epidural mass in the right ligamentum flavum at C4-C5. The acute-onset presentation was suspicious for intraligamentous hematoma in the ligamentum flavum at this level. We performed emergency decompression surgery and en bloc removal of the epidural mass with the right C4 and C5 lamina. The lesion had the appearance of cartilaginous tissue rather than hematoma. Based on the histological investigation, the final diagnosis was intraligamentous chondroma of the cervical spine. The quadriparesis improved postoperatively, as did the results of manual muscle testing in the affected area, and he was able to resume walking independently with a cane. At the one-year follow-up, the manual muscle testing results were almost normal. Surgeons should keep in mind the possibility of benign tumors including chondroma of the cervical spine when a patient presents with acute-onset quadriparesis.
A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma
Authors: Juskaran Chadha, Tanmay Sahai, Joshua Schwimmer, Dana Shani
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

We are reporting a case of a 30-year-old male with no past medical history who presented with new onset of renal failure, anemia, and splenomegaly and was diagnosed with multiple myeloma. Given the splenomegaly and the patient's Jewish heritage, blood tests were done and the patient was found to be a Gaucher disease carrier. The association of Gaucher disease and multiple myeloma has previously been reported; however, we want to describe the case of a young Gaucher disease carrier who developed multiple myeloma and provide a review of the literature.