OpenMed/multicare-articles huggingface dataset:
Sequencing of an Undifferentiated Carcinoma with Osteoclast-Like Giant Cells of the Pancreas: A Case Report
Authors: Jessica L Smith, Christina L Jacovides, Catherine M Tucker, Wei Jiang, Anthony J Prestipino, Charles J Yeo
Journal: J Pancreat Cancer (2021)
Keywords: cancer, next-generation sequencing, osteoclast-like giant cells, pancreatic adenocarcinoma, pancreatic cancer
MeSH terms: Case Reports

Background: Undifferentiated carcinoma with osteoclast-like giant cells/osteoclast-like giant cell reaction (UC-OGC) is a rare form of pancreatic cancer historically associated with a poor prognosis. Molecular tumor profiling provides new information about tumor origins and a more nuanced understanding of the potential efficacy of different chemotherapeutic agents. Presentation: A 69-year-old man presented with a 13-cm periampullary pancreatic mass. Biopsy of a neighboring lymph node was consistent with adenocarcinoma. After neoadjuvant chemoradiation, the patient underwent resection and the tumor was consistent with UC-OGC. Next-generation sequencing was performed with genomic and proteomic analyses analyzed by a molecular tumor board review. These analyses revealed genetic alterations similar to those seen in pancreatic ductal adenocarcinoma, as well as potential therapeutic targets for the patient's subsequent therapy. Conclusions: Understanding a tumor's genetic changes allows for better understanding of its biology and may improve treatment efficacy. We believe that future study in tumor profiling will improve our understanding of rare cancers such as UC-OGC and also pave the way for the use of novel therapies to specifically target mutations in a broad range of more common tumors.
New Onset On-Medication Freezing of Gait After STN-DBS in Parkinson's Disease
Authors: Shanshan Mei, Jiping Li, Erik H Middlebrooks, Leonardo Almeida, Wei Hu, Yuqing Zhang, Adolfo Ramirez-Zamora, Piu Chan
Journal: Front Neurol (2019)
Keywords: cerebellum, deep brain stimulation, fiber tracking, freezing of gait, on-state, prefrontal cortex, subthalamic nucleus
MeSH terms: Case Reports

Freezing of gait (FoG) is commonly observed in advanced Parkinson's disease (PD) and it is associated with reduced mobility, recurrent falls, injuries, and loss of independence. This phenomenon typically occurs as the effect of dopaminergic medications wears off ("off" FoG) but on rare occasions, it can also be observed during peak medication effect ("on" FoG). In this report, we present the case of a 65-year-old female with a 13-year history of akinetic-rigid idiopathic PD who developed recurrent episodes of "on" FoG after bilateral subthalamic nucleus deep brain stimulation (STN-DBS). She underwent STN-DBS for management of motor fluctuations, which resulted in a marked improvement in her motor symptoms. Within the next 6 months and after several programming sessions, the patient reported "on" FoG occurring regularly 1 h after taking levodopa and lasting a few hours. Accordingly, a repeated levodopa challenge showed that FoG resolved with either levodopa administration or STN stimulation alone, but the combination of both therapies induced recurrence of FoG in our patient. Subsequent management was complex requiring adjustments in levodopa dose and formulation along with advanced DBS programming.
Fungal Keratitis Caused by Drechslera spp. Treated with Voriconazole: A Case Report
Authors: Margarita I Echavez, Archimedes Lee D Agahan, Noel S Carino
Journal: Case Rep Ophthalmol Med (2013)

Objective. To present a case of Drechslera spp. keratitis treated with topical Voriconazole. Method. A case report. Results. A 52-year-old diabetic male presented with a one-week history of foreign body sensation of the left eye, self-medicated with Neomycin, Polymyxin B, and Dexamethasone eye drops, and was diagnosed to have bacterial conjunctivitis, which was treated with Levofloxacin drops. The patient developed a corneal opacity after 2 days and was initially seen with a visual acuity of counting fingers on the left eye, with a 3 mm central corneal ulcer with feathery borders. No hypopyon was noted. The right eye had a visual acuity of 20/20 and had unremarkable findings. Corneal scraping of the ulcer showed no organisms on Gram and Giemsa stain. Cultures were positive for Drechslera spp. and patient was started on Natamycin drops every 15 minutes, Atropine drops 3× a day, and Levofloxacin was continued every 4 hours. The ulcer increased to 4 mm, the infiltrates became deeper involving the midstroma, and there was appearance of a 2 mm hypopyon. Natamycin was shifted to Voriconazole eye drops every 15 minutes. There was note of a decrease in the size of the ulcer and clearing of the infiltrates with the new treatment regimen. Final visual acuity after 29 days of treatment was 20/40 with note of a slight corneal haze in the area of the previous ulcer. Conclusion. Voriconazole may be safe and effective in the treatment of Drechslera keratitis. There was no perforation and there was immediate decrease in the size of the ulcer. This is the first known case of Drechslera keratitis treated with Voriconazole eye drops in the Philippines.
Intrapleural injection of urokinase in the treatment of acute Haemophilus influenza empyema in children: A case report and literature review
Authors: Lin Yang, YaFei Zhu, GuangSheng Wu
Journal: Front Pediatr (2022)
Keywords: haemophilus influenzae, empyema, high-throughput, infection, urokinase
MeSH terms: Case Reports

Objective:
The purpose of this study is to analyze the clinical data of a child with acute empyema caused by Haemophilus influenzae, and to investigate the diagnosis and treatment of this disease through literature review to improve the clinical understanding of this kind of disease.
Methods:
A 6-year-old female with acute H. influenzae empyema was treated at the Department of Pediatrics of The Affiliated Hospital of Hangzhou Normal University, Hangzhou, China. The pleural puncture fluid turned out to be yellow turbid pus, and the pleural effusion was diagnosed as empyema according to the classification of pleural effusions. High-throughput sequencing revealed the presence of H. influenzae. After comprehensive treatment, including antibiotics, closed pleural drainage, and intrapleural injection of urokinase, the pleural effusion was absorbed and discharged. A systematic literature search in Pubmed, Embase, Scopus, CNKI, Wanfang, and VIP Chinese databases revealed no cases of acute empyema in children caused by H. influenza and treated with urokinase.
Results:
There was no bronchopleural fistula and tension pneumothorax during the treatment. One month after discharge, chest computed tomography (CT) revealed no pleural thickening and normal pulmonary function.
Conclusion:
Pneumonia in the child worsened after an initial improvement of symptoms, which is an issue that requires further medical attention. High-throughput sequencing of pathogens in pleural effusion can improve the detection rate. This study indicated that closed pleural drainage combined with intrapleural injection of urokinase is an effective treatment for H. influenzae empyema in children.
ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): A Report of a Chinese Family
Authors: Leweihua Lin, Huibiao Quan, Kaining Chen, Daoxiong Chen, Danhong Lin, Tuanyu Fang
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: abcc8 gene, mody, diabetes, metformin, missense mutation
MeSH terms: Diabetes Mellitus, Type 2 / genetics, Sulfonylurea Receptors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Asian People / genetics, Child, China, Family, Genetic Testing, Humans, Male, Mutation, Missense, Pedigree, ABCC8 protein, human, Sulfonylurea Receptors, Mason-Type Diabetes

Maturity-onset diabetes mellitus of the young (MODY) is a monogenic diabetes characterized by autosomal dominant inheritance. Its atypical clinical features make diagnosis difficult and it can be misdiagnosed as type 1 or type 2 diabetes. Fourteen subtypes of MODY have been diagnosed so far, of which MODY12 is caused by mutation of the ABCC8 (ATP Binding Cassette Subfamily C Member 8) gene, which is rarely reported in China. This paper reports a Chinese family of MODY12 caused by a rare missense mutation on the ABCC8 gene, which has not been reported to be associated with MODY in China or in other countries, with the aim of increasing clinicians' awareness and attention to the disease.
Diagnosis of Bilateral Tonsil Cancers via Staging PET/CT: Case Report and Review
Authors: Edward M Mannina, Sunanda M Pejavar, Christine M Glastonbury, Annemieke van Zante, Steven J Wang, Sue S Yom
Journal: Int J Otolaryngol (2011)
MeSH terms: Case Reports

Diagnostic workup of metastatic head and neck squamous cell carcinoma of unknown primary site has traditionally included CT and/or MRI imaging and endoscopic biopsies. Routine bilateral tonsillectomy is highly controversial and the role of PET/CT is evolving, both for identification of potential primary sites and the detection of distant metastases. We report a case of cervical nodal metastasis of squamous cell carcinoma from an unknown primary site, in which dual-modality PET/CT led to the unexpected diagnosis of synchronous bilateral tonsillar cancers. In addition, PET/CT correctly distinguished pulmonary sarcoidosis from metastatic disease in this patient.
An Unprecedented Case of p190 BCR-ABL Chronic Myeloid Leukemia Diagnosed during Treatment for Multiple Myeloma: A Case Report and Review of the Literature
Authors: Kosuke Miki, Naoshi Obara, Kenichi Makishima, Tatsuhiro Sakamoto, Manabu Kusakabe, Takayasu Kato, Naoki Kurita, Hidekazu Nishikii, Yasuhisa Yokoyama, Mamiko Sakata-Yanagimoto, Yuichi Hasegawa, Shigeru Chiba
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

We report the case of a 76-year-old man who was diagnosed as having chronic myeloid leukemia (CML) with p190 BCR-ABL while receiving treatment for symptomatic multiple myeloma (MM). The diagnosis of MM was based on the presence of serum M-protein, abnormal plasma cells in the bone marrow, and lytic bone lesions. The patient achieved a partial response to lenalidomide and dexamethasone treatment. However, 2 years after the diagnosis of MM, the patient developed leukocytosis with granulocytosis, anemia, and thrombocytopenia. Bone marrow examination revealed Philadelphia chromosomes and chimeric p190 BCR-ABL mRNA. Fluorescence in situ hybridization also revealed BCR-ABL-positive neutrophils in the peripheral blood, which suggested the emergence of CML with p190 BCR-ABL. The codevelopment of MM and CML is very rare, and this is the first report describing p190 BCR-ABL-type CML coexisting with MM. Moreover, we have reviewed the literature regarding the coexistence of these diseases.
Case report: Severe chronic spontaneous urticaria successfully treated with omalizumab and dupilumab
Authors: Viktoria Puxkandl, Wolfram Hoetzenecker, Sabine Altrichter
Journal: Allergol Select (2023)
Keywords: chronic spontaneous urticaria, dupilumab, mast cells, omalizumab
MeSH terms: Case Reports

Urticaria is a disease triggered by mast cells and characterized by recurrent symptoms such as wheals and/or angioedema. Most patients benefit from treatment with antihistamines (AH) or, if not effective enough, from additional therapy with omalizumab, which leads to significant symptom relief. Here we present a patient with therapy-resistant chronic spontaneous urticaria treated with AH, omalizumab, and glucocorticosteroids. The subsequent recommended therapy according to the current guideline, cyclosporine A, was contraindicated in this patient. Therefore, therapy with dupilumab was initiated, resulting in a complete control of symptoms. In this case report, we present a case of successful dual therapy with omalizumab and dupilumab.
Systemic lupus erythematosus with hepatosplenic granuloma: a rare case
Authors: Anju Bharti, Lalit Prashant Meena
Journal: Case Reports Immunol (2014)

Background. Systemic lupus erythematosus (SLE) is an autoimmune disease which is known to present with a wide variety of clinical manifestations. Case Report. A 15-year-old male presented with complaints of moderate grade fever and generalized body swelling. There was no history of cough, weight loss, joint pain, oral ulcerations, skin rash, photosensitivity, loss of hair, pain abdomen, jaundice, or any significant illness in the past. Contrast enhanced computerized tomography of the abdomen revealed hypodense lesions in both liver and spleen (without contrast enhancement), suggestive of granulomas along with few retroperitoneal and mesenteric lymph nodes. On the basis of immunological tests and renal biopsy report, SLE with hepatosplenic granulomatosis diagnosis was made. He was given pulse methylprednisolone 500 mg, for 3 days and he showed dramatic improvement clinically. Conclusion. Hepatic and splenic granulomas are not common in SLE, but this should be kept in differential diagnosis.
A case of paraneoplastic optic neuropathy and outer retinitis positive for autoantibodies against collapsin response mediator protein-5, recoverin, and α-enolase
Authors: Michiyuki Saito, Wataru Saito, Atsuhiro Kanda, Hiroshi Ohguro, Susumu Ishida
Journal: BMC Ophthalmol (2014)
MeSH terms: Autoantibodies / immunology, Nerve Tissue Proteins / immunology, Optic Nerve Diseases / immunology, Paraneoplastic Syndromes, Ocular / immunology, Phosphopyruvate Hydratase / immunology, Recoverin / immunology, Retinitis / immunology, Case Reports, Research Support, Non-U.S. Gov't, Aged, Humans, Hydrolases, Lung Neoplasms / complications, Male, Microtubule-Associated Proteins, Small Cell Lung Carcinoma / complications, Autoantibodies, Microtubule-Associated Proteins, Nerve Tissue Proteins, Recoverin, DPYSL5 protein, human, Hydrolases, Phosphopyruvate Hydratase

Background:
Specific cross-reacting autoimmunity against recoverin or collapsin response mediator protein (CRMP)-5 is known to cause cancer-associated retinopathy or paraneoplastic optic neuropathy, respectively. We report a rare case with small cell lung carcinoma developing bilateral neuroretinitis and unilateral focal outer retinitis positive for these antibodies.
Case presentation:
A 67-year-old man developed bilateral neuroretinitis and foveal exudation in the right eye. Optical coherence tomography showed a dome-shaped hyperreflective lesion extending from inner nuclear layer to the photoreceptor layer at the fovea in the right eye. Single-flash electroretinography showed normal a-waves in both eyes and slightly reduced b-wave in the left eye. Results of serological screening tests for infection were within normal limits. The patient's optic disc swelling and macular exudation rapidly improved after oral administration of prednisolone. Systemic screening detected lung small cell carcinoma and systemic chemotherapy was initiated. Immunoblot analyses using the patient's serum detected autoantibodies against recoverin, CRMP-5, and α-enolase, but not carbonic anhydrase II. Neuroretinitis once resolved after almost remission of carcinoma on imaging but it recurred following the recurrence of carcinoma.
Conclusions:
The development of neuroretinitis in this cancer patient with anti-retinal and anti-optic nerve antibodies depended largely on the cancer activity, suggesting the possible involvement of paraneoplastic mechanisms. Patients with paraneoplastic optic neuropathy and retinopathy are likely to develop autoimmune responses against several antigens, thus leading to various ophthalmic involvements.
Radicular dens invaginatus: report of a rare case
Authors: V T Beena, R Sivakumar, R Heera, R Rajeev, Kanaram Choudhary, Swagatika Panda
Journal: Case Rep Dent (2012)

Dens invaginatus is a developmental anomaly resulting from invagination of a portion of crown forming within the enamel organ during odontogenesis. The invagination ranges from a slight pitting (coronal type) to an anomaly occupying most of the crown and root (radicular type). Although a clinical examination may reveal a deep fissure or pit on the surface of an anterior tooth, radiographic examination is the most realistic way to diagnose the invagination. The objective of this case presentation is to report a rare case of radicular dens in dente, which is a rare dental anomaly.
MRI evaluation of diffuse subcutaneous neurofibroma of the lower limb in a low resource setting
Authors: Adenike Temitayo Adeniji-Sofoluwe, Olanrewaju Adebusuyi Ogunleye, Clement Abu Okolo
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

An unusual type of neurofibroma predominantly seen in children and young adults is diffuse neurofibroma. We present a 25-year-old female with recurring soft tissue masses in her right lower limb. MRI showed areas of T 1 iso-intensity and T 2 hyperintensity relative to skeletal muscle within the subcutaneous fat. These masses show marked enhancement post gadolinium administration. Histological examination of the excised mass showed diffuse neurofibroma. The rare nature of this tumour and the limited literature describing the imaging features make the diagnosis relatively difficult for a radiologist.
Recurrent Ameloblastoma: A Surgical Challenge
Authors: Chithra Aramanadka, Abhay Taranath Kamath, Adarsh Kudva
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Ameloblastoma is locally aggressive benign odontogenic tumour with increased risk of recurrence rate. The choice of treatment depends on the histologic subtype. Radical therapy is the recommended modality for solid ameloblastomas. The possibilities of recurrence even after enbloc resection are still high. The author presents two case reports of recurrent ameloblastomas postradical resection. First case describes the recurrence of ameloblastoma in the bone graft which was used for reconstruction, and the second case depicts recurrence in the infratemporal fossa. Intraoperative radiography of the frozen section of the soft tissue margin plays an important role in the holistic management of these lesions.
Laparoscopic repair of high rectovaginal fistula: is it technically feasible?
Authors: Saravanan S Kumaran, Chinnusamy Palanivelu, Alfie J Kavalakat, Ramakrishnan Parthasarathi, Murugayyan Neelayathatchi
Journal: BMC Surg (2005)
MeSH terms: Laparoscopy / methods, Rectovaginal Fistula / surgery, Case Reports, Female, Humans, Hysterectomy, Vaginal, Middle Aged, Postoperative Complications / surgery

Background:
Rectovaginal fistula (RVF) is an epithelium-lined communication between the rectum and vagina. Most RVFs are acquired, the most common cause being obstetric trauma. Most of the high RVFs are repaired by conventional open surgery. Laparoscopic repair of RVF is rare and so far only one report is available in the literature.
Methods:
We present a case of high RVF repaired by laparoscopy. 56-year-old female who had a high RVF following laparoscopic assisted vaginal hysterectomy was successfully operated laparoscopically. Here we describe the operative technique and briefly review the literature.
Results:
The postoperative period of the patient was uneventful and after a follow up of 6 months no recurrence was found.
Conclusion:
Laparoscopic repair of high RVF is feasible in selected patients but would require proper identification of tissue planes and good laparoscopic suturing technique.
Spinal meningeal melanocytoma in a 5-year-old child: a case report and review of literature
Authors: Ahmed M Salah El-Din, Hashem M Aboul-Ela, Mohamed F Alsawy, Ahmed Koheil, Ahmed H Ashry
Journal: Egypt J Neurol Psychiatr Neurosurg (2018)
Keywords: melanocytoma, melanoma, meningeal, pediatric, spinal tumors

Background:
Meningeal melanocytoma is considered a rare lesion arising from leptomeningeal melanocytes. Nearly two thirds of meningeal melanocytomas were reported in the intracranial compartment and the remaining one third in the spine. Spinal melanocytomas can be extradural or intradural, with extradural variant being more common, and the majority of cases have been single reports.
Methods:
A 5-year-old male presented with a 4-month history of non-radiating low back pain persistent at rest, with otherwise non-remarkable medical history. The patient was neurologically intact with no deficits. Preoperatively, routine laboratory investigations were non-remarkable. MRI imaging was done and showed a lesion at the level of T11 to L4, hyperintense on T1 and hypointense on T2 with homogenous contrast enhancement. Intraoperatively, the lesion was hemorrhagic, brownish, and rubbery in consistency attached to the ventral dura. Microscopic picture revealed dense cytoplasmic brown melanin pigments, with no significant mitoses or nuclear atypia. What is unique about our case is the age of the patient (5 years).
Results:
To the best of our knowledge, after reviewing the literature, this is the youngest case to be reported.
Conclusions:
SMM is an extremely rare tumor with a benign course. Complete surgical excision should be attempted. Age of presentation may be as young as in our case and the diagnosis of such a tumor should never be excluded in this early age group with persistent low back ache.
Case Report: Severe Adolescent Major Depressive Syndrome Turns Out to Be an Unusual Case of Anti-NMDA Receptor Encephalitis
Authors: Alexander Moldavski, Holger Wenz, Bettina E Lange, Cathrin Rohleder, F Markus Leweke
Journal: Front Psychiatry (2021)
Keywords: anti-neuronal autoantibodies, autoimmune encephalitis, cerebrospinal fluid, depression, isolated psychiatric presentation, young adult
MeSH terms: Case Reports

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a neuroinflammatory condition mediated by autoantibodies against the GluN1 subunit of the receptor. Clinically, it is characterized by a complex neuropsychiatric presentation with rapidly progressive psychiatric symptoms, cognitive deficits, seizures, and abnormal movements. Isolated psychiatric manifestations of anti-NMDAR encephalitis are rare and usually dominated by psychotic symptoms. We present a case of an 18-year-old female high school student-without a previous history of psychiatric disorders-with a rapid onset severe depressive syndrome. Surprisingly, we found pleocytosis and anti-NMDAR autoantibodies in the cerebrospinal fluid (CSF), despite an otherwise unremarkable diagnostic workup, including blood test, clinical examination, and cranial magnetic resonance imaging (MRI). After intravenous immunoglobulins treatment, a complete remission of the initial symptoms was observed. In a follow-up 5 years later, the young woman did not experience any relapse or sequelae. Anti-NMDAR encephalitis can present in rare cases as an organic disorder with major depressive symptoms without distinct concomitant psychotic or neurological symptoms. A clinical presentation such as a rapid onset of symptoms, distinct disturbance in the thought process, restlessness, and cognitive deficits should prompt screening for NMDAR- and other neural autoantibodies to rule out this rare but debilitating pathology.