OpenMed/multicare-articles huggingface dataset:
A case of cellular variants of Sclerosing epithelioid fibrosarcoma resembling Plasmacytoma/Myeloma: Diagnostic difficulty in the fine needle aspiration
Authors: Nahoko Nagano, Noriyoshi Ishikawa, Mamiko Nagase, Asuka Araki, Teruaki Iwahashi, Riruke Maruyama
Journal: Int J Surg Case Rep (2020)
Keywords: case report, ewsr1, fine needle aspiration biopsy, low-grade fibromyxoid sarcoma, muc4, sclerosing epithelioid sarcoma
MeSH terms: Case Reports

Introduction:
Sclerosing epithelioid sarcoma (SEF) is a rare fibroblastic sarcoma. It is classically composed of cords of epithelioid cells embedded in a hyalinized stroma; however, cases of cellular variants also exist. A cellular variants of SEF can mimic Plasmacytoma/Myeloma (PM) and myoepithelioma. Hence, accurate diagnosis of SEF is important for cytologists and pathologists.
Presentation of case:
We present the case of a 75-year-old female patient diagnosed with a cellular variant of SEF occurring in the erector spinal muscle. Immunostaining of MUC4 and fluorescence in situ hybridization of EWSR1 (break-apart signal) were used for diagnosis.
Conclusion:
The cellular variants of SEF presented diagnostic difficulties in fine needle aspiration. Moreover, it could not be distinguished from PM.
Herniation of the Anterior Wall of the Stomach into a Congenital Postdiaphragmatic Space: An Unusual Complication following Laparoscopic Nissen Fundoplication
Authors: A Eisawi, A Al-Temimi, Mohamed Dirie, S Bukhari, M Siddiqui
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Postoperative herniation of the stomach into potential spaces is a rare but serious complication of Nissen fundoplication. We report a 55-year-old female who presented with persistent vomiting shortly following laparoscopic Nissen fundoplication. At laparotomy, the anterior wall of the stomach was noted to be herniating into a congenital space behind the diaphragm. Anterior gastropexy was performed following the reduction of the herniating gastric segment. A high index of suspicion followed by aggressive and timely intervention is necessary to diagnose and manage postoperative gastric herniation and reduce the subsequent morbidity and mortality.
Orbital and Pulmonary Actinomycosis: The First Case Report and Literature Review
Authors: Paruspak Payoong, Natcha Saetiew, Opass Putcharoen, Chusana Suankratay
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Orbital actinomycosis is a very rare clinical manifestation of orbital infection caused by Actinomyces species, anaerobic Gram-positive filamentous bacteria. We report herein a case of a 58-year-old man who presented with chronic progressive course of total ophthalmoparesis in association with productive cough, leading to the diagnosis after extensive investigation. In addition, all reported cases of orbital actinomycosis in the literature are reviewed.
Chondroblastic osteosarcoma of the distal tibia: a rare case report
Authors: Aymen Ben Fredj, Lassaad Hassini, Aymen Fekih, Mohamed Allagui, Issam Aloui, Abderrazek Abid
Journal: Pan Afr Med J (2017)
Keywords: osteosarcoma, chondroblastic, tibia
MeSH terms: Bone Neoplasms / pathology, Osteosarcoma / pathology, Tibia / pathology, Case Reports, Adolescent, Biopsy, Bone Neoplasms / diagnosis, Bone Neoplasms / therapy, Follow-Up Studies, Humans, Male, Neoadjuvant Therapy / methods, Osteosarcoma / diagnosis, Osteosarcoma / therapy

Chondroblastic osteosarcoma, representing about 25% of osteosarcoma, is a fatal primary malignancy of the skeleton if not diagnosed and treated appropriately. It most commonly occurs in the long bones of the extremities near the metaphyseal growth plates. In this report, we describe the occurrence of chondroblastic osteosarcoma involving the left distal tibia in a 14-year-old male. The diagnosis was confirmed by the histological examination of a surgical biopsy. The patient was treated by both surgery and neoadjuvant chemotherapy. No recurrence was noted at 3 years of follow-up. To our knowledge, only two cases describing chondroblastic osteosarcoma of the distal tibia had been reported through English medical literature. Therefore, the aim of our article is to make the clinician aware of this rare clinical presentation and also to provide a comprehensive review of the literature related to this uncommon malignant tumour.
Severe life threatening maxillofacial infection in pregnancy presented as Ludwig's angina
Authors: Shelly Abramowicz, Jacques S Abramowicz, M Franklin Dolwick
Journal: Infect Dis Obstet Gynecol (2006)
MeSH terms: Ludwig's Angina / diagnosis, Pregnancy Complications, Infectious / diagnosis, Submandibular Gland Diseases / diagnosis, Case Reports, Adult, Anti-Bacterial Agents / therapeutic use, Drainage, Female, Humans, Ludwig's Angina / drug therapy, Ludwig's Angina / physiopathology, Ludwig's Angina / surgery, Pregnancy, Pregnancy Complications, Infectious / drug therapy, Pregnancy Complications, Infectious / physiopathology, Pregnancy Complications, Infectious / surgery, Submandibular Gland Diseases / drug therapy, Submandibular Gland Diseases / physiopathology, Submandibular Gland Diseases / surgery, Tooth Extraction, Tracheostomy, Anti-Bacterial Agents

Background:
Ludwig's angina is a rapidly spreading cellulitis that may produce upper airway obstruction often leading to death. There is very little published information regarding this condition in the pregnant patient.
Case:
A 24-year old black female was admitted at 26 weeks gestation with tooth pain, submandibular swelling, severe trismus, and dysphagea, consistent with Ludwig's angina. Her treatment included emergent tracheostomy, incision and drainage of associated spaces, teeth extraction, and antibiotic therapy.
Conclusions:
During a life threatening infectious situation such as the one described, risks of maternal and fetal morbidity include both septicemia and asphyxia. Furthermore, the healthcare provider must consider the risks that the condition and the possible treatments may cause the mother and her unborn child.
Intravenous Iodinated Contrast Induced Thyrotoxic Periodic Paralysis: A Case Report
Authors: S Alrushaid, T Alessa
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Thyrotoxic periodic paralysis (TPP) is an entity that has been described in the literature as a transient, symmetrical, flaccid paralysis, mainly affecting the lower limbs of patients with a current or previous history of hyperthyroidism. In most cases, Graves' disease is the cause of hyperthyroidism. Contrast and iodine-induced TPP have been described in the literature, but only one case of intravenous contrast induced TPP has been reported. We report a case of TPP following administration of intravenous contrast for a computed tomography scan of the neck prior to lymph node excision. A 35-year-old Kuwaiti male with known Graves' disease in remission until two months of his presentation, reported to the emergency room one early morning in December 2020. He sustained a fall from the stairs due to bilateral lower limb weakness, mostly proximal. The upper limbs were spared, and the patient did not experience any numbness or headache. His potassium was found to be 2.1 mmol/L and an electrocardiogram showed U waves and ST segment changes. He was initiated on 20 mEq of intravenous potassium chloride in 500 mL sodium chloride over one hour, following which his potassium approached normal and his weakness resolved. He was last known to be euthyroid in November 2019 but noted in October 2020 to be in the hyperthyroid state when thyroid function testing showed a thyroid-stimulating hormone of <0.005 (0.27-4.2 uIu/mL) and free thyroxine (T4) of 27.6 (7.8- pmol/L). In patients with known hyperthyroidism, more caution is required when iodine-containing substances are administered without proper evaluation of thyroid function.
Oral phenytoin toxicity causing sinus arrest: a case report
Authors: Ravi K Thimmisetty, Janardhana Rao Gorthi, Mahmoud Abu Hazeem
Journal: Case Rep Cardiol (2014)

We present a case of sinus node arrest leading to symptomatic junctional bradycardia from oral phenytoin toxicity, which is a rare presentation. Our patient had no prior cardiac history and was on phenytoin therapy for seizure disorder. Although bradycardia is more commonly associated with intravenous phenytoin and there were few case reports of bradycardia with oral phenytoin reported, the literature is limited. In this case report, we also reviewed the pathophysiology of phenytoin-induced cardiac toxicity.
Case report: COVID-19-associated mucormycosis co-infection with Lomentospora prolificans: The first case and review on multiple fungal co-infections during COVID-19 pandemic
Authors: Mahzad Erami, Hossein Mirhendi, Mansooreh Momen-Heravi, Alireza Sharif, Seyed Jamal Hashemi Hezaveh, Amir Hassan Matini, Amir Hossein Ahsaniarani, Shima Aboutalebian
Journal: Front Med (Lausanne) (2023)
Keywords: covid-19, lomentospora prolificans, antifungal susceptibility testing, mucormycosis, multiple co-infection
MeSH terms: Case Reports

Along with the pandemic COVID-19 spreads, new clinical challenges have emerged in the health care settings, among which there is a high risk of secondary invasive fungal infections with significant mortality. Here, we report a case of invasive fungal rhino orbital sinusitis due to the simultaneous co-infection by Rhizopus oryzae and Lomentospora prolificans, both identified by sequencing, in a 70-year-old Afghanistanian female with COVID-19. The patient was subjected to surgical debridement as well as taking liposomal amphotericin B, voriconazole, and on discharge, her condition was good. As far as we know, this is the first case of co-infection of COVID-19-associated mucormycosis (CAM) and Lomentospora prolificans infection. Multiple fungal co-infections in COVID-19 patients are reviewed.
Case Report: Abscopal Effect of Microwave Ablation in a Patient With Advanced Squamous NSCLC and Resistance to Immunotherapy
Authors: Chuchu Shao, Menghang Yang, Yingying Pan, Dacheng Xie, Bin Chen, Shengxiang Ren, Caicun Zhou
Journal: Front Immunol (2021)
Keywords: ablation, abscopal effect, immunotherapy, lung cancer, oligo-progression
MeSH terms: Ablation Techniques, Carcinoma, Non-Small-Cell Lung / therapy, Drug Resistance, Neoplasm, Immune Checkpoint Inhibitors / therapeutic use, Immunotherapy, Lung Neoplasms / therapy, Microwaves / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Aged, Carcinoma, Non-Small-Cell Lung / immunology, Carcinoma, Non-Small-Cell Lung / secondary, Humans, Immune Checkpoint Inhibitors / adverse effects, Lung Neoplasms / immunology, Lung Neoplasms / pathology, Male, Treatment Outcome, Immune Checkpoint Inhibitors

Currently, immunotherapy has been a backbone in the treatment of advanced non-small cell lung cancer (NSCLC) without driver gene mutations. However, only a small proportion of NSCLC patients respond to immune checkpoint inhibitors, and majority of patients with initial response will develop acquired resistance at 5 years, which usually manifests as oligo-progression or oligo-metastases. Evidence from multiple clinical trials indicates that local consolidative therapies could improve the prognosis of oligometastatic NSCLC patients. Herein, we reported a case of advanced squamous lung cancer which showed a durable abscopal effect from microwave ablation after acquired resistance of immunotherapy.
Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis
Authors: Zhi Zhang, Banghui Xiao
Journal: Front Neurol (2023)
Keywords: scn4a gene, hyperthyroidism, hypokalemic periodic paralysis, therapy, thyrotoxic periodic paralysis
MeSH terms: Case Reports

Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to thyrotoxicosis, Sjogren syndrome, primary aldosteronism, etc. HPP may be the only presentation in Andersen-Tawil syndrome in which the majority of cases are caused by pathogenic variants in the KCNJ2 gene. We present a case of a 29-year-old male with hypokalemic periodic paralysis. The patient began to experience recurrent weakness of the extremities at the age of 26, which was effectively treated with potassium supplementation. He had recently developed dry mouth, palpitations, weight loss, and even dyspnea, with a serum potassium level as low as 1.59 mmol/L. The results of auxiliary examinations showed Graves' disease, and genetic testing indicated a missense variant, NM_000334.4 (SCN4A):c.3404G>A (p.R1135H). He did not experience periodic paralysis during follow-up after lifestyle guidance and treatment of thyrotoxicosis with radioactive iodine. It is a rare case of SCN4A p.R1135H gene variant combined with hyperthyroidism resulting in HPP with respiratory muscle paralysis to raise awareness of the disease and avoid misdiagnosis and missed diagnosis.
Successful Treatment of Hemophagocytic Lymphohistiocytosis Associated with Lupus Nephritis by Using Mycophenolate Mofetil
Authors: Takashi Nawata, Makoto Kubo, Kosaku Shiragami, Yukinori Nakamura, Masafumi Yano
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

An estimated 0.9% to 2.4% of patients with systemic lupus erythematosus (SLE) also have hemophagocytic lymphohistiocytosis (HLH). HLH associated with autoimmune diseases is often refractory to corticosteroid treatment; thus, additional immunosuppressive drugs, such as cyclosporine, cyclophosphamide, or tacrolimus, are required. Here, we describe the case of a 44-year-old Japanese woman who developed HLH associated with lupus nephritis. Initially, her HLH was refractory to treatment with a corticosteroid, tacrolimus, and mizoribine. However, alternative treatment with a corticosteroid, mycophenolate mofetil, and tacrolimus improved both her HLH and lupus nephritis. This case suggests the possibility of mycophenolate mofetil as a key drug for treating HLH associated with SLE.
Bilateral serous retinal detachment accompanied by a rare intraretinal fluid configuration in preeclampsia and PRES Syndrome
Authors: Sibel Inan, Onur Polat, Ersan Cetinkaya, Umit Ubeyt Inan
Journal: Rom J Ophthalmol (2019)
Keywords: posterior reversible encephalopathy syndrome, preeclampsia, serous retinal detachment
MeSH terms: Brain / pathology, Brain Diseases / complications, Pre-Eclampsia / diagnosis, Retinal Detachment / diagnosis, Retinal Pigment Epithelium / pathology, Visual Acuity, Case Reports, Brain Diseases / diagnosis, Female, Fluorescein Angiography, Fundus Oculi, Humans, Magnetic Resonance Imaging, Pregnancy, Retinal Detachment / complications, Syndrome, Tomography, Optical Coherence / methods, Young Adult

Purpose: To present the association between posterior reversible encephalopathy (PRES) syndrome due to preeclampsia and bilateral serous retinal detachment (SRD) accompanied by intraretinal fluid configuration. Methods: A 24-year-old woman, at 28 weeks of gestation presented with blurred vision bilaterally related to bilateral SRD involving the center of the macula accompanied by intraretinal fluid. The patient was diagnosed as pre-eclampsia accompanied by PRES syndrome. The patient approved and underwent delivery the same day. On day 9, ophthalmologic examination revealed complete resolution of SRD and normal visual acuity bilaterally and cranial MRI showed complete resolution of the vasogenic edema with medical treatment. Conclusion: SRD and accompanying retinal edema must be considered among etiological factors leading to sudden vision loss in patients with preeclampsia and PRES syndrome. Abbreviations: PRES = Posterior reversible encephalopathy, SRD = Serous retinal detachment, SD-OCT = Spectral-domain optical coherence tomography, RPE = Retinal pigment epithelium, CSC = Central serous chorioretinopathy, ONL = Outer nuclear layer, INL = Inner nuclear layer, IPL = Inner plexiform layer, RNFL = retinal nerve fiber layer.
Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys
Authors: Marlena Ewertowska, Elżbieta Grześk, Anna Urbańczyk, Anna Dąbrowska, Katarzyna Bąbol-Pokora, Monika Łęcka, Sylwia Kołtan
Journal: Allergy Asthma Clin Immunol (2020)
Keywords: apds, genetic testing, growth hormone, hyper igm, pi3kδ, primary immunodeficiency
MeSH terms: Case Reports

Background:
Activated PI3K delta syndrome (APDS) belongs to the heterogeneous group of primary immunodeficiency disorders (PIDs). Progress in next-generation sequencing (NGS) enabled identification of gain-of-function mutations in phosphoinositide 3-kinase (PI3K) genes. Depending on the type of causative mutation, APDS is classified into two types: APDS 1 and APDS 2. To date, less than 100 cases of APDS have been reported. Clinical symptoms of APDS result from impaired immune regulation and are clinically manifested by recurrent infections, allergies, lymphoproliferation and autoimmunity. They show similarity to other PIDs. Therefore, many patients were diagnosed incorrectly. The availability of genetic testing has allowed establishing the correct diagnosis in increasing number of patients suffering from APDS.
Case presentations:
The first male patient presented in infancy with recurrent infections. Subsequently he was found to suffer from hepatosplenomegaly, early portal hypertension, massive lymphoproliferation and hypogammaglobulinemia. The common E1021K mutation in the PI3KCD gene was identified. The patient underwent successful hematopoietic stem cell transplantation with resolution of most symptoms. The second patient suffered from persistent growth retardation since early life, facial dysmorphism and recurrent respiratory infections from early childhood. He was found to have systemic lympho-proliferation, panhypoglobulinemia and impaired antibody responses to vaccines. The introduction of NGS in Poland enabled rapid identification of a mutation in the PI3KR1 gene. Growth hormone administration seemed to have worsened the lymphoproliferation.
Conclusions:
Patients with suspected common variable immunodeficiency (CVID) and additional symptoms, such as allergy, facial dysmorphia, short stature, enhanced lymphoproliferation and lack of adequate response to human immunoglobulin replacement therapy, should be considered for NGS-based genetic testing. It may substantially shorten the time needed to establish the correct diagnosis, direct appropriate treatment and avoid potentially harmful therapies. To date, few cases of APDS have been described. It is important to report each of them to establish clinical indices and laboratory biomarkers of APDS 1 and APDS 2, to develop the standards of care in these conditions.
Posterior tibial nerve schwannoma in a multiple myeloma patient: A case report
Authors: Michael Daniel, David Waters, Chaoyang Chen, Nicole Brouyette
Journal: SAGE Open Med Case Rep (2019)
Keywords: surgery, neurology, orthopedics/rehabilitation/occupational therapy
MeSH terms: Case Reports

We report the case of a 61-year-old man with sharp pain, tender mass at the left lower one-third posterior tibial region. The patient has a 10-year history of multiple myeloma and related chemotherapy. A positron emission tomography computed tomography and magnetic resonance imaging indicated the suspect of a posterior tibial nerve tumor. En bloc resection of the tumor was performed under guidance of nerve stimulator without resecting nerve trunk. Active nerve was reserved without any neuropathic pain. Histology revealed the presence of a peripheral schwannoma. In conclusion, the tibial nerve schwannoma appeared to be a whole nerve mass, but meticulous dissection showed that this tibial nerve schwannoma was a well-encapsulated tumor and can be separated from the nerve trunk with active nerve fibers reserved. Removal of the tumor made patient free of pain and asymptomatic after surgery. The level of clinical evidence is 4.
Type IV Sacrococcygeal Teratoma Associated with Urogenital Sinus: Difficulties in the Prenatal Differential Diagnosis
Authors: Zeki Sahinoglu, Aysenur Cerrah Celayir, Mehmet Resit Asoglu, Nahit Özcan
Journal: J Neonatal Surg (2013)
Keywords: cloacal anomaly, fetal mri, fetal ultrasonography, sacrococcygeal teratoma, urogenital sinus
MeSH terms: Case Reports

Sacrococcygeal teratoma (SCT) is being more often detected due to availability of prenatal ultrasonography. Type IV SCT could be misdiagnosed as cloacal abnormalities due to the pelvic midline cystic mass associated with renal malformations and obstructive uropathy during the pregnancy. We discuss difficulties in the prenatal differential diagnosis of SCT and urogenital sinus in a 26-year-old pregnant woman, admitted to our prenatal diagnosis centre for a detailed US for a pre-sacral mass.
A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
Authors: Marzieh Rahbaran, Maryam Hassani Doabsari, Simindokht Salavitabar, Neda Mokhberian, Ziba Morovvati, Saeid Morovvati
Journal: Cell Mol Biol Lett (2019)
Keywords: dysplasia, eda, ectodermal, gene, hypohidrotic
MeSH terms: Ectodermal Dysplasia 1, Anhidrotic / genetics, Ectodysplasins / genetics, Frameshift Mutation, Case Reports, Child, Female, Humans, Male, Pedigree, Ectodysplasins

Purpose:
Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A (EDA) mutation that is expected to be involved in pathogenesis of HED.
Methods:
Hypohidrotic ectodermal dysplasia genes, including EDA, EDAR and EDARADD, were analyzed using next-generation sequencing (NGS). The detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing.
Results:
The patient presented with adontia, absence of gum development, hyperthermia and hypohidrosis. Our genetic analysis of the patient revealed a novel frameshift hemizygous mutation (c.898_924 + 8del35ins4CTTA) on the EDA gene. The patient's mother showed a mild HED phenotype. Direct sequencing of the EDA gene in the region where her son had the mutation showed the same mutation in a heterozygous state.
Conclusion:
We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient's symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved.
Chest Pain from Pneumopericardium with Gastropericardial Fistula
Authors: Abdullah Rathur, Hussein Al-Mohamad, Jeffrey Steinhoff, Ronald Walsh
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Introduction:
Gastropericardial fistula, a connection between the upper gastrointestinal tract and pericardium, is a rare clinical finding most commonly associated with postsurgical complications, as well as direct tissue invasion from gastric cancer. Case Report. We report a case of a 58-year-old Caucasian woman with metastatic colon cancer treated with FOLFOX, a combination chemotherapy regimen, and bevacizumab who presented with chest pain. She was ruled out for acute coronary syndrome, aortic dissection, or pulmonary embolism. A computed tomography (CT) scan of her chest showed pneumopericardium. A barium swallow ruled out esophageal ulceration, and esophagogastroduodenoscopy (EGD) showed a large penetrating gastric ulcer with no evidence of gastric dysplasia or malignancy or evidence of Helicobacter pylori (H. pylori). The patient underwent median sternotomy with gastric ulcer resection and repair, as well as pericardial washout and pericardial chest tube placement. After an uncomplicated course, she was safely discharged home.
Conclusion:
Given that gastrointestinal ulceration and perforation are known phenomena in patients taking vascular endothelial growth factor (VEGF) inhibitors, surveillance endoscopy may be beneficial to discover them before they result in potentially fatal complications such as gastropericardial fistulas.