OpenMed/multicare-articles huggingface dataset:
A Rare and Complex Case of Non-suicidal Self-Mutilation in a Patient With Schizophrenia
Authors: Ashna Khanna, Davin Agustines
Journal: Cureus (2023)
Keywords: auto-amputation, command auditory hallucinations, digital gangrene, drug and substance abuse, major self-mutilation, poverty, schizophrenia and other psychotic disorders
MeSH terms: Case Reports

The literature describing acts of non-suicidal self-mutilation (NSSM) in the adult population is limited. Of the cases that document NSSM, a disproportionate number of these individuals have a history of psychiatric illnesses. Although the motivation to perform NSSM varies across patients, the literature suggests that past self-injurious behaviors, extreme religious delusions, and command hallucinations are the most significant risk factors. The primary forms of NSSM include ocular, genital, and limb mutilation. Limb mutilation is the least common of the three and typically occurs proximal to the wrist or hand. Here, we present a rare case involving a 42-year-old man with schizophrenia who was hospitalized due to osteomyelitis of his autoamputated digits. This case is unique in involving multiple digits of the hand and using a rare amputation method. We aim to compare this case with the existing body of work on NSSM and identify factors that may predispose patients to act on these extreme impulses. We also highlight a novel interventional program that reduces psychiatric and medical comorbidities.
Dual intersection syndrome of the forearm: a case report
Authors: Bouchra Zhari, Meryem Edderai, Hassan Boumdine, Touriya Amil, Hassan En-nouali
Journal: Pan Afr Med J (2015)
Keywords: intersection syndrome, inflammatory tendinopathy of the wrist, peritenosynovitis, wrist pain
MeSH terms: Forearm / pathology, Magnetic Resonance Imaging / methods, Tenosynovitis / diagnosis, Wrist Joint / pathology, Case Reports, Humans, Male, Middle Aged, Pain / etiology, Syndrome, Tenosynovitis / pathology

The intersection syndrome, described since the 19(th) century, is an uncommon disorder associated with rubbing at the crossing point between the first dorsal compartment muscles and the radial wrist extensor muscles. Imaging modalities used to diagnosis this syndrome includes ultrasonography and magnetic resonance imaging. We reported a case of a 60-year-old man presented to our formation with painful swelling on the dorsum of the wrist and forearm. An MRI and an ultrasound were performed, and objectified a dual cross syndrome of the forearm.
Combination photodynamic therapy and bevacizumab for choroidal neovascularization associated with toxoplasmosis
Authors: Pukhraj Rishi, Anusha Venkataraman, Ekta Rishi
Journal: Indian J Ophthalmol (2011)
MeSH terms: Angiogenesis Inhibitors / administration & dosage, Antibodies, Monoclonal / administration & dosage, Choroidal Neovascularization / etiology, Choroiditis / parasitology, Photochemotherapy, Retinitis / parasitology, Toxoplasmosis, Ocular / complications, Case Reports, Adolescent, Antibodies, Monoclonal, Humanized, Bevacizumab, Choroidal Neovascularization / drug therapy, Choroiditis / complications, Drug Therapy, Combination, Female, Follow-Up Studies, Humans, Intravitreal Injections, Retinitis / complications, Angiogenesis Inhibitors, Antibodies, Monoclonal, Antibodies, Monoclonal, Humanized, Bevacizumab

A 14-year-old girl presenting with visual loss in both eyes was diagnosed to have healed toxoplasma retinochoroiditis in the right eye with active choroidal neovascularization (CNV) secondary to toxoplasmosis in the left. She underwent combination photodynamic therapy (PDT) and intravitreal bevacizumab as primary treatment. PDT was performed as per the 'Treatment of Age-related Macular Degeneration by Photodynamic therapy' study protocol and was followed by intravitreal bevacizumab after 2 days. CNV regressed at 8 weeks of follow-up and remained stable at 8 months of follow-up. The initial visual acuity improved from 20/120 to 20/30. Combination therapy with PDT and intravitreal bevacizumab appears to be effective in the treatment of CNV secondary to toxoplasma retinochoroiditis.
Case report: Immunovirotherapy as a novel add-on treatment in a patient with thoracic NUT carcinoma
Authors: Linus D Kloker, Branko Calukovic, Katrin Benzler, Alexander Golf, Sebastian Böhm, Sven Günther, Marius Horger, Simone Haas, Susanne Berchtold, Julia Beil, Mary E Carter, Tina Ganzenmueller, Stephan Singer, Abbas Agaimy, Robert Stöhr, Arndt Hartmann, Thomas Duell, Sandra Mairhofer, Fabian Fohrer, Niels Reinmuth, Lars Zender, Ulrich M Lauer
Journal: Front Oncol (2022)
Keywords: brd3, nut carcinoma, nutm1, t-vec, chemotherapy, immunotherapy, virotherapy
MeSH terms: Case Reports

NUT carcinoma (NC) is a rare and extremely aggressive form of cancer, usually presenting with intrathoracic or neck manifestations in adolescents and young adults. With no established standard therapy regimen and a median overall survival of only 6.5 months, there is a huge need for innovative treatment options. As NC is genetically driven by a single aberrant fusion oncoprotein, it is generally characterized by a low tumor mutational burden, thus making it immunologically cold and insusceptible to conventional immunotherapy. Recently, we have demonstrated that oncolytic viruses (OVs) are able to specifically infect and lyse NC cells, thereby turning an immunologically cold tumor microenvironment into a hot one. Here, we report an intensive multimodal treatment approach employing for the first time an OV (talimogene laherparepvec (T-VEC); IMLYGIC®) together with the immune checkpoint inhibitor pembrolizumab as an add-on to a basic NC therapy (cytostatic chemotherapy, radiation therapy, epigenetic therapy) in a patient suffering from a large thoracic NC tumor which exhibits an aberrant, unique BRD3:NUTM1 fusion. This case demonstrates for the first time the feasibility of this innovative add-on immunovirotherapy regimen with a profound, repetitive and durable replication of T-VEC that is instrumental in achieving tumor stabilization and improvement in the patient´s quality of life. Further, a previously unknown BRD3:NUTM1 fusion gene was discovered that lacks the extraterminal domain of BRD3.
Gastrointestinal Stromal Tumor Recurrence Presenting as a Small Bowel Obstruction: A Case Report
Authors: Dana A Neama, Sarah J Al Araibi, Amer E Alderazi, Sayed Ali I Almahari, Abdulrahman M Alawadhi
Journal: Cureus (2023)
Keywords: abdominal mass, gastrointestinal stromal tumor, gist, small bowel obstruction, tki, tyrosine kinase inhibitor
MeSH terms: Case Reports

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the alimentary tract in adults. The most common site is the stomach, followed by the small intestine. The clinical presentation varies from an incidental finding in asymptomatic patients to a large palpable mass causing complications such as bowel obstruction or viscus perforation. The best imaging modality is a CT scan of the abdomen. Treatment is determined by the size and location of the GISTs. Surgical intervention is considered for resectable tumors, while tyrosine kinase inhibitor therapy is considered for irresectable, metastatic, or recurrent GISTs. In this case report, we present a 30-year-old female who is a known case of gastric GIST and liver metastases. She presented to the emergency department with intestinal obstruction secondary to a recurrent GIST abdominal mass and underwent emergency laparotomy for mass resection. Following surgery, the patient developed aspiration pneumonia, which was treated with proper antibiotics. She was discharged in stable clinical condition with a recommendation to start alternative tyrosine kinase therapy. GISTs are difficult to diagnose preoperatively, as most patients are asymptomatic, and they may present with complications, as in our case, a small bowel obstruction. A proper imaging modality will guide the physician toward the diagnosis, but the final diagnosis will be achieved by biopsy. The diagnosis may be challenging, as small bowel obstruction has many causes, although GISTs should be kept in mind as one of the deferential diagnoses.
Unusual Presentations of Birth Related Cervical Spinal Cord Injury
Authors: Chien-Chung Lee, I-Jun Chou, Yi-Jung Chang, Ming-Chou Chiang
Journal: Front Pediatr (2020)
Keywords: birth injury, hoarseness, neonatology, spinal cord injury, swallowing dysfunction
MeSH terms: Case Reports

Neonatal spinal cord injury is a rare complication of birth trauma by difficult delivery. The typical manifestations are often catastrophic, include decreased or absent movement, loss of reflexes, apnea or periodic breathing, and a lack of response to painful stimulation. The outcome is usually fatal or severe, with long-term sequelae of respiratory insufficiency, limb weakness, or even paralysis of the limbs. We described a male neonate with a C2 spinal cord injury who was born smoothly by vaginal delivery and was unnoticed initially due to unusual subtle symptoms. He presented with a hoarse voice, swallowing dysfunction, decreased movement of upper limbs, and hypercapnia. After receiving corticosteroid therapy and rehabilitation, he recovered much except that he still needed ventilator support at night.
Case Report: Parasomnia Overlap Disorder Induced by Obstructive Sleep Hypopnea Apnea Syndrome: A Case Report and Literature Review
Authors: Yun Sun, Jie Li, Xinjun Zhang, Qingyan Jiao, Shutong Yang, Lijie Ji
Journal: Front Neurosci (2020)
Keywords: rem sleep behavior disorder, dreams, nightmare, obstructive sleep apnea hypopnea syndrome, parasomnia overlap disorder, sleep terrors

Obstructive sleep apnea hypopnea syndrome (OSAHS) and parasomnia overlap disorder (POD) are types of sleep disorders. When the symptoms of both conditions coexist, the POD symptoms are most likely caused by OSAHS. In these cases, the symptoms of POD will be relieved when OSAHS is effectively treated. We refer to these cases as symptomatic POD (related to OSAHS), which differs in pathophysiology, complications, and treatment from idiopathic POD. It is important to note that the treatment for idiopathic POD may aggravate the symptoms of OSAHS. In this case, we used video polysomnography (v-PSG) on a POD patient with suspected OSAHS to distinguish idiopathic POD from symptomatic POD, to inform the appropriate treatment course. The video results and clinical features lead us to diagnose symptomatic POD, and we treated the patient with auto-set continuous positive airway pressure to address their OSAHS. This course of treatment resolved all POD-related symptoms. Here, we discuss this case and review the relevant literature. This report highlights the importance of the use of v-PSG in the clinical diagnosis, differential diagnosis, and subsequent treatment of POD.
Adult neuroblastoma complicated by increased intracranial pressure: a case report and review of the literature
Authors: Patrick L Stevens, Douglas B Johnson, Mary Ann Thompson, Vicki L Keedy, Haydar A Frangoul, Kristen M Snyder
Journal: Case Rep Oncol Med (2014)

Neuroblastoma is the third most commonly occurring malignancy of the pediatric population, although it is extremely rare in the adult population. In adults, neuroblastoma is often metastatic and portends an extremely poor overall survival. Our case report documents metastatic neuroblastoma occurring in a healthy 29-year-old woman whose course was complicated by an unusual presentation of elevated intracranial pressures. The patient was treated with systemic chemotherapy, I(131) metaiodobenzylguanidine (MIBG) radiotherapy, and autologous stem cell transplant (SCT). Unfortunately the patient's response to therapy was limited and she subsequently died. We aim to review neuroblastoma in the context of increased intracranial pressure and the limited data of neuroblastoma occurring in the adult population, along with proposed treatment options.
Successful Chimeric Antigen Receptor (CAR) T-Cell Treatment in Aggressive Lymphoma Despite Coronavirus Disease 2019 (CoVID-19) and Prolonged Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Replication - Case Report
Authors: Verena Nilius-Eliliwi, Thomas Mika, Alexander Baraniskin, Max Wünnenberg, Marina Maslova, Christian Boy, Susanne Klein-Scory, Roland Schroers, Deepak Vangala
Journal: Front Oncol (2021)
Keywords: covid-19, sars-cov-2, chimeric antigen receptor t-cells, diffuse large b-cell lymphoma, pneumonia
MeSH terms: Case Reports

In patients with compromised immune function, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and coronavirus disease 2019 (CoVID-19) impose particular challenges. Especially in hematological malignancies, including lymphoma, the demands by this novel virus disease are further enhanced during sophisticated treatments, such as chimeric antigen receptor (CAR) T-cell therapy. Here, we present the first case of a patient with refractory diffuse-large B-cell lymphoma, who underwent CAR T-cell treatment in the context of SARS-CoV-2. Irrespective of prolonged and active SARS-CoV-2 infection, T cells were successfully isolated by apheresis and processed to anti-CD19 CAR T cells (axicabtagene-ciloleucel). In light of the aggressive lymphoma course, lymphodepleting chemotherapy and CAR-T cells were administered in early recovery after oxygen-dependent CoVID-19 pneumonia. Except for moderate cytokine release, this cellular immunotherapy was well tolerated. Notably, there is no deterioration of the SARS-CoV-2 infection; however, complete lymphoma response and full clinical recovery were observed. In conclusion, CAR T-cell treatment in aggressive lymphoma in the setting of SARS-CoV-2 infection is feasible and may offer significant therapeutic activity in refractory disease.
A case series of gastrointestinal tuberculosis in renal transplant patients
Authors: Pedro Azevedo, Cristina Freitas, Hugo Silva, Pedro Aguiar, Pedro Farrajota, Manuela Almeida, Sofia Pedroso, La Salete Martins, Leonídio Dias, José Ramón Vizcaíno, António Castro Henriques, António Cabrita
Journal: Case Rep Nephrol (2013)

Tuberculosis is a disease relatively frequent in renal transplant patients, presenting a wide variety of clinical manifestations, often involving various organs and potentially fatal. Gastrointestinal tuberculosis, although rare in the general population, is about 50 times more frequent in renal transplant patients. Intestinal tuberculosis has a very difficult investigational approach, requiring a high clinical suspicion for its diagnosis. Therapeutic options may be a problem in the context of an immunosuppressed patient, requiring adjustment of maintenance therapy. The authors report two cases of isolated gastro-intestinal tuberculosis in renal transplant recipients that illustrates the difficulty of making this diagnosis and a brief review of the literature on its clinical presentation, diagnosis, and therapeutic approach.
Intubation with Airtraq laryngoscope in a morbidly obese patient
Authors: Pratik Tantia, Sunny Malik, Shahin Jamil, Rajiv Samal
Journal: Saudi J Anaesth (2011)
Keywords: airtraq™ optical laryngoscope, difficult intubation, morbidly obese
MeSH terms: Case Reports

In the present study, we report a case of successful endotracheal intubation using Airtraq(™) Laryngoscope (AQL) in a morbidly obese patient. A 35-year-old woman, morbidly obese (weight, 105 kg; height, 160 cm; BMI, 41 kg/m(2)), known hypertensive and diabetic, was admitted in the operating room for total abdominal hysterectomy under general anesthesia. The preoperative airway assessment anticipated both difficult bag-mask ventilation and intubation. Tracheal intubation using AQL was attempted after induction with propofol and relaxation with succinylcholine. Successful tracheal intubation was accomplished within 12 seconds of insertion of AQL into the oral cavity. The minimal hemodynamic response during this maneuver was advantageous in our patient.
Angioedema, an unusual reaction to hair dye
Authors: Reginald Mzudumile Ngwanya, Zandile Spengane, Nonhlanhla Khumalo
Journal: Pan Afr Med J (2018)
Keywords: angioedema, facial swelling, henna, paraphenyldiamine, patch test
MeSH terms: Angioedema / chemically induced, Hair Dyes / adverse effects, Phenylenediamines / adverse effects, Case Reports, Adult, Angioedema / diagnosis, Angioedema / drug therapy, Coloring Agents / adverse effects, Female, Glucocorticoids / administration & dosage, Humans, Naphthoquinones / adverse effects, Patch Tests, Coloring Agents, Glucocorticoids, Hair Dyes, Naphthoquinones, Phenylenediamines, lawsone

Angioedema is a type-1 hypersensitivity reaction that can be life threatening. It affects the skin airways and the gastrointestinal tract. Henna is a green powder used to dye skin and nails. We report a 29 year old patient who presented with angioedema Her patch test was positive to paraphenynlenediamine. She was discharged after successful treatment with intravenous steroids and later topical steroids.
Cutaneous and Skeletal Simultaneous Locations as a Rare Clinical Presentation of Tuberculosis
Authors: Aida Pereira, Ana Miranda, Frederico E Santo, Pedro Fernandes
Journal: Case Rep Infect Dis (2015)

Tuberculosis is a resurgent disease in most regions of the world, infecting one-third of the world's population and having a multisystemic involvement. Incidence of extra-pulmonary tuberculosis has increased in the last few decades as a result of the Human Immunodeficiency Virus (HIV) infection. The authors report a clinical case of the rare concomitant cutaneous and skeletal tuberculosis in an immunocompetent patient transferred from endemic area.
Extensive Mycobacterium abscessus Pneumonia in an Immunocompetent Infant with No Underlying Lung Pathology
Authors: Morouge M Alramadhan, James R Murphy, Michael L Chang
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Pulmonary infection due to Mycobacterium abscessus occurs in patients with cystic fibrosis, but rarely in immunocompetent children without underlying lung pathology. Treatment is complicated by frequent resistance to many antibiotics. We present a case report of a 4-month-old female infant with 2 months of cough, difficulty feeding, and failure to thrive, with extensive culture-confirmed M. abscessus pulmonary infection without identified immunodeficiency or underlying lung pathology following multidisciplinary evaluation. We describe our complete evaluation including immunodeficiency evaluation incorporating whole-exome sequencing, describe our antibiotic selection and treatment duration given complicated susceptibility pattern of the M. abscessus isolate, and review literature for nontuberculous mycobacterial pulmonary disease in immunocompetent children. A complete multidisciplinary evaluation for underlying lung disease and primary and acquired immunodeficiency should be undertaken in pediatric patients with M. abscessus pneumonia. Confirming macrolide susceptibility through erm(41) gene evaluation is clinically important for isolates with complicated susceptibility pattern.
Hemiataxia: A Novel Presentation of Anti-NMDA Receptor Antibody Mediated Encephalitis in an Adolescent
Authors: Greg D Phillips, Gillian N Jones, Maureen Callaghan, Marc P DiFazio
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

Anti-NMDA receptor antibody associated encephalitis as a cause of new-onset neuropsychiatric manifestations in children and adults can represent a significant diagnostic challenge for clinicians. Clinical signs often include encephalopathy, new-onset psychosis, and movement phenomenon. Although orofacial dyskinesias were initially identified as a characteristic movement phenomenon in this type of encephalitis, an expanded range of abnormalities has recently been reported, including isolated ataxia. We report a case of isolated hemiataxia in a young adult with mild initial psychiatric manifestations. A personal and family history of preceding neuropsychiatric symptoms produced diagnostic confusion and resulted in a significant diagnostic and therapeutic delay. Our case confirms the unilateral movement manifestations that have been emphasized in recent reports. Additionally, it confirms the need for involvement of neurologic as well as psychiatric services in the evaluation of such cases and emphasizes the importance of the neurologic examination in presentations with an initial psychiatric predominance.
Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1
Authors: Cleandra Gregório, Clévia Rosset, Laura da Silva Alves, Cristina Brinkmann Oliveira Netto, Simone Marcia Dos Santos Machado, Vivian Pierri Bersch, Alessandro Bersch Osvaldt, Patricia Ashton-Prolla
Journal: Front Genet (2020)
Keywords: cftr pathogenic variant, gist, nf1 pathogenic variant, neurofibromatosis type 1, pancreas divisum, periampullary tumors, synchronous neoplasms

Introduction:
In this study, we describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in NF1 and CFTR genes.
Case report:
A 62-year-old female NF1 patient presented with weakness, choluria, nausea, and diffuse abdominal pain to an emergency room service. Magnetic resonance imaging revealed an abdominal mass involving the periampullary region and pancreas divisum. After surgical resection, three synchronous neoplasms were detected including two ampullary tumors (adenocarcinoma of the major ampulla and a neuroendocrine tumor of the minor ampulla) and a gastrointestinal stromal tumor (GIST). Germline multigene panel testing (MGPT) identified two pathogenic heterozygous germline variants: NF1 c.838del and CFTR c.1210-34TG[12]T[5].
Conclusion:
This is the first report of a Neurofibromatosis type 1 patient with pancreas divisum and multiple periampullary tumors harboring pathogenic germline variants in NF1 and CFTR genes. The identification of two germline variants and a developmental anomaly in this patient may explain the unusual and more severe findings and underscores the importance of comprehensive molecular analyses in patients with complex phenotypes.
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
Authors: Preneet Cheema Brar, Elena Dingle, John Pappas, Manish Raisingani
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).