OpenMed/multicare-articles huggingface dataset:
A Case of a Large Malignant Pericardial Effusion on Computed Tomography Without Electrocardiographic Gating
Authors: Rui Flores, Fernando Mané, Inês Conde, Vítor Hugo Pereira, Pedro Azevedo
Journal: Cureus (2023)
Keywords: computed tomography, emergency echocardiography, pericardial effusion, positron emission tomography computed tomography, pulmonary adenocarcinoma
MeSH terms: Case Reports

A 67-year-old female was admitted due to dyspnea. A computed tomography (CT) disclosed a suspicious pulmonary mass and a pericardial effusion. A transthoracic echocardiogram confirmed a large-volume circumferential pericardial effusion. A pericardiocentesis was performed, and the cytological and histochemical studies later confirmed the diagnosis of pulmonary adenocarcinoma. This case report highlights the casualty of having found a cardiac tamponade through a CT not synchronized with an electrocardiogram.
Cutaneous Breast Cancer Metastasis Is Effectively Treated With Intralesional Interleukin-2 and Imiquimod: A Case Report and Brief Literature Review
Authors: Ashley Drohan, Dejan Vidovic, Penelope Jane Barnes, Carman Anthony Giacomantonio, Lucy Kathryn Helyer
Journal: Front Oncol (2022)
Keywords: il2, cutaneous breast cancer, cutaneous breast cancer metastasis, imiquimod, interleukin-2 (il-2), intralesional, intralesional immunotherapy, intratumoral
MeSH terms: Case Reports

Breast cancer is the most common non-cutaneous cancer affecting women worldwide and is a major cause of cancer-related morbidity and mortality in females. While many women are diagnosed with early-stage disease, a subset of women may present with isolated cutaneous metastases or recurrent locoregional cutaneous metastatic disease. There is a paucity of evidence for effective treatments for cutaneous breast cancer metastases. Herein, we present a case of hormone receptor negative, HER2 positive cutaneous breast cancer metastasis treated with intralesional IL-2 and topical imiquimod, which was well tolerated with only minor low grade side effects. We also present a brief literature review of immunotherapy for cutaneous breast cancer metastasis to frame the discussion around using minimally invasive local therapies for this disease. Together, this limited data suggests that intralesional IL-2 and imiquimod may be considered as a safe option when treating a patient with cutaneous breast cancer metastases.
A Case of Post-COVID-19 Fibrosis Mimicking Thoracic Manifestation of Ankylosing Spondylitis
Authors: Emrah Doğan, Sabri Serhan Olcay, Tuba Çınar Olcay, Utku Tapan, Ozge Tapan, Fatih Alaşan
Journal: Acta Med Litu (2022)
Keywords: ankylosing spondylitis, apical fibrobullous disease, computed tomography, post-covid fibrosis
MeSH terms: Case Reports

The most common thoracic manifestation form of ankylosing spondylitis is apical fibrocystic changes. It is also known as apical fibrobullous disease (AFBD). The patient was diagnosed with ankylosing spondylitis before 9 years. He suffered COVID-19 infection and passed an intensive care period. However, post-covid fibrosis (PCF) atypically affected dominantly apical zones. If we had no sequential CT evaluations, our case could be easily confused with AFBD. On CT taken before COVID-19, the lung apex was normal. Thus, it was confirmed that there was no rheumatologic thoracic manifestation in the patient before suffering from COVID-19 pneumonia. PCF created similar changes as AFBD. Our case is the first reported paper on this topic.
Complete Response to Sorafenib Rechallenge in a Patient with Metastatic Renal Cell Carcinoma
Authors: Ryo Kasahara, Noboru Nakaigawa, Kazuki Kobayashi
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

A 79-year-old Japanese man underwent a medical examination for hoarseness. Computed tomography revealed a left renal tumor, and radical nephrectomy was performed. The tumor was a clear cell carcinoma. Fourteen months after the operation, the tumor had metastasized to the spleen, right lung, and retroperitoneal lymph nodes. We initiated molecular targeted therapy sequentially with sorafenib, sunitinib, and axitinib and then conducted a rechallenge with sorafenib. His metastatic lesions had completely vanished 5 months after initiation of the rechallenge. Ten months after the rechallenge, lumbar vertebral body metastasis appeared. However, we consider that the sorafenib rechallenge was effective because of the very slow growth of the metastatic lesion, with no other metastasis for 30 months, at the time of writing this report. Approximately 7 years after the first local recurrence, he remained alive, with relatively normal daily functioning.
Severe acute polyradiculoneuritis revealing systemic lupus erythematosus: a case report
Authors: Assma Boudanga, Mohamed Chraa, Oussama Cherkaoui Rhazouani, Najib Kissani
Journal: Pan Afr Med J (2023)
Keywords: acute polyradiculoneuropathy, guillain-barré, case report, peripheral neuropathy, systemic lupus erythematosus
MeSH terms: Guillain-Barre Syndrome / diagnosis, Guillain-Barre Syndrome / etiology, Guillain-Barre Syndrome / therapy, Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / diagnosis, Lupus Erythematosus, Systemic / pathology, Case Reports, Adult, Cyclophosphamide, Female, Humans, Prognosis, Cyclophosphamide

Systemic Lupus Erythematosus (SLE) is a common disease with extremely heterogeneous neurological manifestations in its clinical expression. However, few cases have been reported in the last 50 years when the initial manifestation of SLE is Guillain-Barré syndrome (GBS). Our work highlights the importance of evoking SLE as a potential etiology in a patient presenting with acute polyradiculoneuritis. We report the case of a 41-year-old woman who presented with dyspnoea with a purely proxo-distal motor deficit in all four limbs with dermatological lesions such as generalized myxedema and alopecia. The clinical electrical and biological presentation confirms acute polyradiculoneuritis revealing systemic lupus erythematosus. The outcome was marked by clinical improvement, despite the severity of the clinical picture, after treatment with corticosteroid and cyclophosphamide boluses. In conclusion, neurological manifestations in lupus disease are common, whereas the form of acute polyradiculoneuropathy is very rare with a committed vital prognosis. Early diagnosis and management are essential.
Solitary Abdominal Wall Lymph Node Recurrence in Prostate Cancer Patient with Dramatic Prostate-Specific Antigen Decrease following Metastasectomy
Authors: Andrew Williams, Amr A Elbakry, Tyler Trump, Ion Prisneac, Matthew Smolkin, David Zekan, Mohamad W Salkini
Journal: Case Rep Urol (2023)
MeSH terms: Case Reports

Prostate cancer patients routinely undergo surveillance for recurrence using prostate-specific antigen (PSA). While PSA's benefit in screening is controversial, its use for detecting recurrence in patients with history of prostate cancer is pivotal. Rising PSAs with the newly advanced prostate-specific membrane antigen positron emission tomography (PSMA PET) can help localize the location of recurrences for better excision and management. Here, we present a 55-year-old with prostate cancer, with initially undetectable postprostatectomy PSA levels, who later presented with a PSA of 3.47 ng/mL. PSMA PET showed isolated uptake in an abdominal wall mass. Pelvic lymphadenectomy and abdominal wall mass excision were performed, confirming a single metastasis in an abdominal wall lymph node. Metastasectomy led to a dramatic drop in PSA to 0.10 ng/mL both postoperatively and on long-term follow-up. Our case illustrates the potential benefit of metastasis-directed therapy in delayed oligometastasis following definitive management of prostate cancer.
Long-Term Sequelae in Young Convalescent COVID-19 Patients
Authors: Ayumi Nakamura, Thomas J Farrer, Andy Liu
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

As of March 2022, over 78 million cases of COVID-19 and 900,000 deaths have been reported in the United States. The consequences in the acute phase due to the SARS-COV-2 infection are well defined. Beyond the direct effects of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) involving the lung parenchyma, the post-viral complications within the central nervous system are still largely unknown, and a comprehensive evaluation regarding the long-term neuropsychological sequelae from this disease is not well characterized. An increasing number of patients previously diagnosed with COVID-19 have now presented with ongoing symptoms of inattention, executive function, and memory difficulties. These symptoms are collectively and commonly known by the public as 'brain fog', with many expressing concerns over their inability to engage in the workplace due to these symptoms. Here, we describe three patients who were seen in the Memory Disorders Clinic at Duke University to characterize the long-term neuropsychological symptoms, neuropsychological test results and brain MRI findings after infection with SARS-CoV-2 in a cohort of patients under the age of 60.
Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
Authors: Margarita Sharova, Mikhail Skoblov, Elena Dadali, Nina Demina, Olga Shchagina, Fedor Konovalov, Maria Ampleeva, Inna Sharkova, Sergey Kutsev
Journal: Front Neurol (2022)
Keywords: micu1, rna analysis, mitochondrial ca2+ complex, molecular mechanism of inherited disease, myopathy with extrapyramidal signs
MeSH terms: Case Reports

We present a patient with unusual episodes of muscular weakness due to homozygous deletion of exon 2 in the MICU1 gene. Forty-three patients from 33 families were previously described with homozygous and compound heterozygous, predominantly loss of function (LoF) variants in the MICU1 gene that lead to autosomal recessive myopathy with extrapyramidal signs. Most described patients developed muscle weakness and elevated CK levels, and half of the patients had progressive extrapyramidal signs and learning disabilities. Our patient had a few severe acute episodes of muscle weakness with minimal myopathy features between episodes and a strongly elevated Creatinine Kinase (CK). Whole exome sequencing (WES) was performed and the homozygous deletion of exon 2 was suspected. To validate the diagnosis, we performed an RNA analysis of all family members. To investigate the possible impact of this deletion on the phenotype, we predicted a new Kozak sequence in exon 4 that could lead to the formation of a truncated MICU1 protein that could partly interact with MCU protein in a mitochondrial Ca2+ complex. We suspect that this unusual phenotype of the proband with MICU1-related myopathy could be explained by the presence of the truncated but partly functional protein. This work helps to define the clinical polymorphism of MICU1 deficiency better.
Primary Gliosarcoma of the Cerebellum in a Young Pregnant Woman: Management Challenges and Immunohistochemical Features
Authors: Marco Meloni, Salvatore Serra, Giulia Bellisano, Nikolaos Syrmos, Sanjeeva Jeyaretna, Mario Ganau
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Background:
Gliosarcoma (GS) represents a rare, high-grade (WHO Grade IV), central nervous system neoplasm, characterized by a very poor prognosis. Similar to other high-grade gliomas, GS affects mainly adults in the 5th-7th decade of life and presents a higher incidence in males. The most reported locations of GS are the temporal lobe and the frontal lobe, while only eight cases of GS originating from the posterior cranial fossa are reported in the literature.
Case description:
We report the first case occurring during pregnancy in a 33-year-old patient. Diagnosis was obtained on the 15th week of gestation when patient presented with signs and symptoms of life-threatening raised intracranial pressure. Surgical excision was followed by early recurrence and eventually disease progression because the patient refused adjuvant treatment to save her fetus.
Conclusions:
GS should be considered in the differential diagnosis of posterior cranial fossa tumors with radiological features of meningioma or glioblastoma, even in young patients. To this regard, sarcomas, solitary fibrous tumors, and even metastases should be considered, especially in light of the tendency of GS to give rise to extracranial localizations. Whenever an aggressive management with radical excision and adjuvant treatment is not safely achievable, disease progression is likely to be unavoidable.
Post-traumatic tremor in child after mild head trauma
Authors: Ploutarchos Karydakis, Dimitrios Giakoumettis, Ioannis Nikas, Dimitrios Panagopoulos, George Sfakianos, Marios Themistocleous
Journal: Pan Afr Med J (2018)
MeSH terms: Craniocerebral Trauma / complications, Dystonia / etiology, Tremor / etiology, Case Reports, Accidental Falls, Child, Preschool, Female, Humans, Trauma Severity Indices

Despite the fact that movement disorders can be noted after severe traumatic brain injury (TBI), there are very few cases in the literature regarding children with a mild head injury. In addition, their pathophysiological mechanism, radiological features, and treatment options have not been well described yet. Hereby, we report a case of a 3-year-old girl who suffered a head injury after a two-meter fall, resulting in generalized body tremor and dystonia.
Enhanced S-cone function with preserved rod function: a new clinical phenotype
Authors: Michael Kinori, Eran Pras, Andrew Kolker, Gili Ferman-Attar, Iris Moroz, Joseph Moisseiev, Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Dror Sharon, Ygal Rotenstreich
Journal: Mol Vis (2011)
MeSH terms: Arabs, Phenotype, Retinal Cone Photoreceptor Cells / pathology, Retinal Rod Photoreceptor Cells / physiology, Vision Disorders / physiopathology, Case Reports, Adult, Consanguinity, DNA Mutational Analysis, Electroretinography, Eye Proteins / genetics, Fluorescein Angiography, Humans, Israel / epidemiology, Male, Middle Aged, Retinal Cone Photoreceptor Cells / physiology, Siblings, Tomography, Optical Coherence, Vision Disorders / diagnosis, Vision Disorders / ethnology, Vision Disorders / genetics, Eye Proteins

Purpose:
To describe the clinical findings and genetic analysis in two brothers having a novel retinal disease characterized by an enhanced S-cone phenotype with normal rod function.
Methods:
Both patients underwent complete ophthalmologic examinations, including fundus photography, electroretinography (ERG), fluorescein angiography and optical coherence tomography (OCT). Mutation analysis of the following candidate genes was performed: nuclear receptor subfamily 2 group E member 3 (NR2E3), neural retina leucine zipper (NRL), nuclear receptor subfamily 1 group D member 1 (NR1D1), and thyroid hormone receptor beta (THRB).
Results:
Spectral photopic ERG responses demonstrated enhanced S-cone function in both patients. Their scotopic b-wave ERG amplitude responses, however, were within normal limits. Their scotopic a-wave amplitude responses were within the lower limit of normal. The a- and b-wave latencies were normal for one sibling and on the upper limit of normal for the other. Peripheral retinal findings were normal. OCT showed flattening of the macular curvature and thinning of the photoreceptor layer. Mutation analysis of NR2E3, NRL, NR1D1, and THRB genes was negative.
Conclusions:
We describe what appears to be a previously unidentified familial retinal phenotype with enhanced S-cone function and well preserved rod system function in contrast to the severely reduced rod function seen in the enhanced S-cone syndrome (ESCS). Genetic analysis of candidate genes did not reveal the cause of disease. We postulate that the disease might be caused by mutation of another, as yet unidentified gene, which encodes a protein that functions as a negative inhibitor of rod and S-cone development.
Primary signet ring cell carcinoma of the lung with cerebellar metastasis showing full response to Cisplatin and docetaxel therapy
Authors: Onur Kocas, Fatih Selcukbiricik, Ahmet Bilici, Metin Kanıtez, Serdar Yildiz, Suna Avci, Canan Tanik
Journal: Case Rep Oncol Med (2014)

Introduction. Primary signet ring cell carcinoma (SRCC) of the lung is a very rare disease. We describe a new case of primary SRCC of the lung with cerebellar metastasis, which responded well to the therapeutic approach with cisplatin and docetaxel. Case Report. A 41-year-old female patient (nonsmoker) was consulted to our oncology outpatient clinic after cerebellar metastasectomy. The histopathological diagnosis was SRCC metastasis. The primary tumor was unknown. The PET-CT imaging showed a hypermetabolic mass in the right middle lobe of the lung and hypermetabolic mediastinal lymph node stations. Oesophagogastroduodenoscopy and colonoscopy showed no evidence of gastrointestinal system tumor. The clinical diagnosis of primary SRCC of the lung was made and the administration of six rounds of cisplatin and docetaxel treatment was planned. After the chemotherapy the PET-CT scan to evaluate the therapy response showed full metabolic regression of the primary tumor and the mediastinal lymph nodes. There was no evidence of new metastasis. Conclusion. Primary SRCC of the lung is a very rare disease with poor prognosis. There are not many cases in literature and no standardized chemotherapy protocols. Cisplatin and docetaxel may be a good treatment option.
Umbilical Artery Thrombosis with Associated Acute and Severe Fetal Growth Restriction and Transient Severe Protein S Deficiency: Report of a Case with Prenatal Ultrasound Diagnosis Allowing for Timely Intervention and Good Outcome
Authors: Ali Alhousseini, Sunil Jaiman, Edgar Hernandez-Andrade, Salam Zeineddine, Faisal Qureshi, Suzanne M Jacques
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
Thrombosis of one of the umbilical arteries can be associated with adverse pregnancy outcomes such as stillbirth and severe intrauterine growth restriction (IUGR).
Case:
A 21-year-old gravida 1 patient, with a history of 3-vessel cord at 20 weeks, presented at 29 weeks with a single umbilical artery. The estimated fetal weight measurements at 26 weeks, 29 weeks, and 31 weeks were at the 27th percentile, the 26th percentile, and less than the 5th percentile, respectively. At 33 weeks, amniotic fluid index became abnormal at 2.3 cm and fetal heart tracing revealed spontaneous prolonged decelerations, and a cesarean delivery was performed. Placental pathology showed thrombosis of one of the umbilical arteries. At birth, a transient protein S deficiency was detected (activity 13%) and resolved at two months of age (activity 66%). The baby had an uneventful clinical course since birth.
Conclusion:
The recognition of reduction of umbilical arteries from two to one allowed for timely intervention with good outcome in this case. Thrombosis of umbilical vessels may be associated with a deficiency in coagulation proteins such as protein S.
Desmoplastic Infantile Ganglioglioma: cytologic findings and differential diagnosis on aspiration material
Authors: Oluwole Fadare, M Rajan Mariappan, Denise Hileeto, Arthur W Zieske, Jung H Kim, Idris Tolgay Ocal
Journal: Cytojournal (2005)

BACKGROUND: Desmoplastic infantile ganglioglioma (DIG) is a rare WHO Grade I tumor of infancy that is characterized by large volume, superficial location, invariable supratentoriality, fronto-parietal lobe predilection and morphologically, by an admixture of astroglial and neuroepithelial elements in a desmoplastic milieu. With over 50 cases described, the histologic and radiographic spectrum of DIG has been well-characterized. The superficial location of DIGs may render them greatly amenable to preoperative assessment utilizing aspiration cytology; however, the cytologic features of this rare tumor have only been reported once previously. CASE PRESENTATION: We present herein cytomorphologic findings from the intraoperative aspiration of a typical case of DIG diagnosed in a 1-year-old male. As evaluated on a single liquid-based preparation, the specimen showed low cellularity and was comprised predominantly of a population of dispersed (occasionally clustered) large neuronal cells with eccentrically located hyperchromatic nuclei (which were occasionally binucleated) and abundant unipolar cytoplasm. Rare smaller astroglial cells were intermixed. Despite the tumor's characteristic desmoplastic histologic appearance, no stromal fragments were identified on the aspiration material. CONCLUSIONS: A differential diagnosis is presented and analyzed in detail and it is concluded that when these large neuronal cells are encountered in an aspirate of a brain mass in a child, a combination of clinical, radiologic and immunohistochemical parameters can eliminate most of the differential possibilities.
Successful cardiopulmonary resuscitation following minimally invasive pectus excavatum repair: A case report
Authors: Kyle J Glithero, John J Tackett, Kenneth DeMason, Cathy A Burnweit
Journal: Int J Surg Case Rep (2019)
Keywords: cardiac arrest, cardiopulmonary resuscitation, case report, minimally invasive pectus excavatum repair, nuss procedure, pectus excavatum

Introduction:
Pectus excavatum is the most common congenital chest wall deformity. The minimally invasive repair of pectus excavatum (MIRPE) is the most commonly practiced method of surgical treatment and there is concern that the pectus bar will prevent effective CPR. There are no recorded cases of successful cardiopulmonary resuscitation with pectus bars in place.
Presentation of case:
A 17-year-old male with pectus excavatum underwent MIRPE. Two years later, he experienced out-of-hospital cardiac arrest and underwent successful cardiopulmonary resuscitation (CPR) in the field with a pectus bar in place.
Discussion:
Successful CPR is possible after MIRPE. Clear identification of patients who have undergone MIRPE and education of CPR providers in providing effective chest compressions and defibrillation for this patient population is necessary.
Conclusion:
This is the first documented case of successful CPR in a patient with a pectus bar in place who experienced out-of-hospital cardiac arrest.
Kounis syndrome induced by oral intake of aspirin: case report and literature review
Authors: Abdelkader Jalil El Hangouche, Ouiame Lamliki, Latifa Oukerraj, Taoufiq Dakka, Nawal Doghmi, Jamila Zarzur, Mohammed Cherti
Journal: Pan Afr Med J (2018)
Keywords: kounis, aspirin allergy, coronary spasm, myocardial infarction, samter´s triad, zavras syndrome
MeSH terms: Aspirin / adverse effects, Drug Hypersensitivity / physiopathology, Kounis Syndrome / diagnosis, Case Reports, Review, Aspirin / administration & dosage, Asthma / chemically induced, Asthma / immunology, Drug Hypersensitivity / etiology, Drug Hypersensitivity / immunology, Female, Humans, Kounis Syndrome / physiopathology, Mast Cells / immunology, Middle Aged, Myocardial Infarction / chemically induced, Myocardial Infarction / immunology, Nasal Polyps / immunology, Aspirin

The Kounis-Zavras syndrome is defined as the coincidental occurrence of acute coronary events and hypersensitivity reactions following an allergic reaction including a mast-cell degranulation of vasospastic mediators. This report describes a case of Kounis-Zavras syndrome in the setting of aspirin-induced asthma also known as Samter-Beer triad combining nasal polyps, asthma, and aspirin allergy leading to vasospasm and myocardial infarction. All physicians should be aware of The Kounis syndrome and always keep that unique clinical entity in mind to recognize it promptly and direct the therapy at suppressing the allergic reaction.