OpenMed/multicare-articles huggingface dataset:
"Spice" (Synthetic Marijuana) Induced Acute Myocardial Infarction: A Case Series
Authors: E Ul Haq, A Shafiq, A A Khan, A A Awan, S Ezad, W J Minteer, B Omar
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Marijuana is the most widely abused "recreational" substance in the United States, with highest prevalence in young adults. It is reported to cause ischemic strokes, hepatitis, anxiety, and psychosis. Although it is associated with dose dependent tachycardia and can lead to coronary vasospasm, it has not been directly related to acute myocardial infarction (AMI). Marijuana induced coronary vasospasm can result in endothelial denudation at the site of a vulnerable atherosclerotic plaque in response to hemodynamic stressors, potentially causing an AMI. Spice refers to herbal mixture with composition and effects similar to that of marijuana and therefore is referred to as "synthetic marijuana." Herein, we report 3 cases of spice induced ST-segment elevation myocardial infarction. All patients were relatively young and had few or absolutely no risk factors for cardiovascular disease. All patients underwent emergent coronary angiography, with two needing stent placement and the third requiring only aspiration thrombectomy. Our case series emphasizes the importance of suspecting and investigating synthetic marijuana use in low risk young adults presenting with AMI.
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy
Authors: Peggy S Eis, Christopher D Bruno, Todd A Richmond, Igor J Koralnik, Barbara A Hanson, Eugene O Major, Christina R Chow, Houria Hendel-Chavez, Bruno Stankoff, Jacques Gasnault, Yassine Taoufik, Eli Hatchwell
Journal: Front Neurol (2020)
Keywords: jc virus, pml, genetic risk, immunodeficiency, multiple sclerosis, natalizumab, progressive multifocal leukoencephalopathy, serious adverse event

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disorder of the brain caused by reactivation of the JC virus (JCV), a polyomavirus that infects at least 60% of the population but is asymptomatic or results in benign symptoms in most people. PML occurs as a secondary disease in a variety of disorders or as a serious adverse event from immunosuppressant agents, but is mainly found in three groups: HIV-infected patients, patients with hematological malignancies, or multiple sclerosis (MS) patients on the immunosuppressant therapy natalizumab. It is severely debilitating and is deadly in ~50% HIV cases, ~90% of hematological malignancy cases, and ~24% of MS-natalizumab cases. A PML risk prediction test would have clinical utility in all at risk patient groups but would be particularly beneficial in patients considering therapy with immunosuppressant agents known to cause PML, such as natalizumab, rituximab, and others. While a JC antibody test is currently used in the clinical decision process for natalizumab, it is suboptimal because of its low specificity and requirement to periodically retest patients for seroconversion or to assess if a patient's JCV index has increased. Whereas a high specificity genetic risk prediction test comprising host genetic risk variants (i.e., germline variants occurring at higher frequency in PML patients compared to the general population) could be administered one time to provide clinicians with additional risk prediction information that is independent of JCV serostatus. Prior PML case reports support the hypothesis that PML risk is greater in patients with a genetically caused immunodeficiency disorder. To identify germline PML risk variants, we performed exome sequencing on 185 PML cases (70 in a discovery cohort and 115 in a replication cohort) and used the gnomAD variant database for interpretation. Our study yielded 19 rare variants (maximum allele frequency of 0.02 in gnomAD ethnically matched populations) that impact 17 immune function genes (10 are known to cause inborn errors of immunity). Modeling of these variants in a PML genetic risk test for MS patients considering natalizumab treatment indicates that at least a quarter of PML cases may be preventable.
Prediction of the final size for COVID-19 epidemic using machine learning: A case study of Egypt
Authors: Lamiaa A Amar, Ashraf A Taha, Marwa Y Mohamed
Journal: Infect Dis Model (2020)
Keywords: covid-19, epidemic model, regression analysis model

COVID-19 is spreading within the sort of an enormous epidemic for the globe. This epidemic infects a lot of individuals in Egypt. The World Health Organization states that COVID-19 could be spread from one person to another at a very fast speed through contact and respiratory spray. On these days, Egypt and all countries worldwide should rise to an effective step to investigate this disease and eliminate the effects of this epidemic. In this paper displayed, the real database of COVID-19 for Egypt has been analysed from February 15, 2020, to June 15, 2020, and predicted with the number of patients that will be infected with COVID-19, and estimated the epidemic final size. Several regression analysis models have been applied for data analysis of COVID-19 of Egypt. In this study, we've been applied seven regression analysis-based models that are exponential polynomial, quadratic, third-degree, fourth-degree, fifth-degree, sixth-degree, and logit growth respectively for the COVID-19 dataset. Thus, the exponential, fourth-degree, fifth-degree, and sixth-degree polynomial regression models are excellent models specially fourth-degree model that will help the government preparing their procedures for one month. In addition, we have applied the well-known logit growth regression model and we obtained the following epidemiological insights: Firstly, the epidemic peak could possibly reach at 22-June 2020 and final time of epidemic at 8-September 2020. Secondly, the final total size for cases 1.6676E+05 cases. The action from government of interevent over a relatively long interval is necessary to minimize the final epidemic size.
Review of Two Siblings with Werner's Syndrome: A Case Report
Authors: Murat Sert, Koray Fakioglu, Tamer Tetiker
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

We report the clinical course of two siblings with Werner's syndrome (WS) who were diagnosed and followed at our clinics for 12 years. Initial diagnosis of the first sibling (sister) was at age 20, the second (brother) at 16. At the initial diagnosis, the sister had amenorrhea, muscle atrophy at arms and legs, diabetes mellitus (DM), short stature, bilateral cataracts, genital hypoplasia, osteoporosis, and gray hair. During 12 years follow-up period, high-pitched voice, hepatosteatosis, renal parenchymal disease, and urethral obstruction developed. Regarding the brother, DM, cataracts and genital hypoplasia were observed at the initial diagnosis. During the 12 years follow-up period, gray hair, high-pitched voice, steatohepatosis, and osteoporosis developed.
Case report: Osteosarcomatous differentiation in the lung metastasis of a malignant phyllodes tumor
Authors: Ruijing Liu, Jingli Xue, Wen Liu, Beibei Jiang, Fuyun Shi, Zhenzheng Wang, Peifeng Li
Journal: Front Med (Lausanne) (2023)
Keywords: cancer stem cells, case report, liposarcomatous differentiation, malignant phyllodes tumor, osteosarcomatous differentiation, tumor metastasis
MeSH terms: Case Reports

Malignant phyllodes tumor is a rare breast tumor, with distant metastases and heterologous differentiation in a few cases. We report a case of malignant phyllodes tumor with liposarcomatous differentiation in the primary tumor and osteosarcomatous differentiation in the lung metastatic tumor. A middle-aged female presented with a well-defined mass in the upper lobe of the right lung measuring 5.0 × 5.0 × 3.0 cm. The patient had a history of malignant phyllodes tumor in the breast. The patient underwent a right superior lobectomy. Histologically, the primary tumor was a typical malignant phyllodes tumor with pleomorphic liposarcomatous differentiation, while the lung metastasis showed osteosarcomatous differentiation without original biphasic features. The phyllodes tumor and heterologous components showed CD10 and p53 expression, and were negative for ER, PR, and CD34. Exome sequencing revealed TP53, TERT, EGFR, RARA, RB1, and GNAS mutations in all three components. Although the lung metastasis were morphologically different from the primary breast tumor, their common origin was demonstrated through immunohistochemical and molecular characterization. Cancer stem cells give rise to tumor heterogeneous cells, and heterologous components in malignant phyllodes tumors may indicate unfavorable prognosis and a greater risk of early recurrence and metastasis.
Management of an oral ingestion of transdermal fentanyl patches: a case report and literature review
Authors: Andrew C Faust, Ralph Terpolilli, Darrel W Hughes
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Purpose. Fentanyl is available as a transdermal system for the treatment of chronic pain in opioid-tolerant patients; however, it carries a black box warning due to both the potency of the product and the potential for abuse. In this report, we describe a case of transbuccal and gastrointestinal ingestion of fentanyl patches and the management of such ingestion. Summary. A 32-year-old man was brought to the emergency department (ED) via emergency medical services for toxic ingestion and suicide attempt. The patient chewed and ingested two illegally purchased transdermal fentanyl patches. In the ED, the patient was obtunded, dizzy and drowsy. Initial vital signs showed the patient to be afebrile and normotensive with a heart rate of 63, respiratory rate of 16, and oxygen saturation of 100% on 2 liters nasal cannula after administration of 2 milligrams of intravenous naloxone. The patient was treated with whole bowel irrigation and continuous intravenous naloxone infusion for approximately 48 hours without complications. Conclusion. Despite numerous case reports describing oral ingestion of fentanyl patches, information on the management of such intoxication is lacking. We report successful management of such a case utilizing whole bowel irrigation along with intravenous push and continuous infusion naloxone.
Removal of maxillary sinus metallic foreign body like a hand sewing needle by magnetic iron
Authors: Linqin Shao, Xiurong Qin, Yingwei Ma
Journal: Int J Clin Pediatr Dent (2014)
Keywords: foreign body, maxillary sinus, spiral cone-beam computed tomography
MeSH terms: Case Reports

Metallic foreign bodies are rarely found in the maxillary sinus, and usually they have a dental origin. Two main surgical app-roaches are currently used for the removal of foreign bodies in the maxillary sinus: the bone flap and the endoscopic sinus tech-niques. However, the treatment is not only surgical removal. We are reporting one case of foreign body like a hand sewing needle entered into the maxillary sinus through an unusual route- carious deciduous molar tooth. It was diagnosed by three-dimensional images from cone-beam computed tomography (CBCT) and removed by a simple procedure, with magnetic iron, thereby avoiding the risk of damage to a large portion of the alveolar bone near the maxillary sinus. How to cite this article: Shao L, Qin X, Ma Y. Removal of Maxillary Sinus Metallic Foreign Body Like a Hand Sewing Needle by Magnetic Iron. Int J Clin Pediatr Dent 2014;7(1):61-64.
Diagnosis and treatment of isolated rib Langerhans cell histiocytosis in an adult: A case report
Authors: Yaxin Guo, QiFeng Huang
Journal: Front Surg (2023)
Keywords: langerhans cell histiocytosis, pet/ct, spect, rib, surgery
MeSH terms: Case Reports

Langerhans cell histiocytosis (LCH) was first proposed in 1987 to define the disorder characterized by the proliferation of abnormal Langerhans cells. It is more likely to occur in children younger than 15 years of age. Single-site and single-system LCH of rib is rare in adults. We present a rare case of isolated rib LCH in a 61-year-old male patient and expound the diagnosis and treatment of the disease. A 61-year-old male patient who presented with a 15-day history of dull pain in the left chest was admitted to our hospital. PET/CT image showed obvious osteolytic bone destruction and abnormal fluorodeoxy-glucose (FDG) uptake (maximum standardized uptake value: 14.5) in the right fifth rib with local soft tissue mass formation. The patient was eventually confirmed the diagnosis of LCH by immunohistochemistry stain and treated with rib surgery. A thorough review of the literature regarding diagnosis and treatment of LCH is presented in this study.
Delayed Nephropleural Fistula After Percutaneous Nephrolithotomy
Authors: Kamaljot S Kaler, Daniel Cwikla, Ralph V Clayman
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Pleural effusions due to pleural injury following supracostal percutaneous nephrolithotomy (PCNL) occur in upwards of 15% of patients; however, these effusions are invariably diagnosed immediately postoperative or during the hospital stay. Herein, we report our initial experience with a delayed nephropleural fistula. A 52-year-old female underwent an uneventful supracostal right PCNL staghorn stone procedure and was discharged on postoperative day 1. She presented to the emergency department 8 days after her original procedure and one day after ureteral stent removal in the office, with right pleural effusion, concomitant contralateral renal colic secondary to migration of a left pelvic stone into her left proximal ureter, and acute renal failure/oliguria. She was treated with right chest tube drainage, bilateral nephrostomy tube placement, and subsequent left holmium laser ureterolithotripsy.
Management of the Vertical Dimension in the Camouflage Treatment of an Adult Skeletal Class III Malocclusion
Authors: Manuel Gustavo Chávez Sevillano, Gina Judith Flores Diaz, Luciane Macedo de Menezes, Livia Kelly Ferraz Nunes, José Augusto Mendes Miguel, Cátia Cardoso Abdo Quintão
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Treating skeletal class III malocclusions is one of the biggest challenges in Orthodontics. Given the complexity of these cases, orthognathic surgery is often the best treatment option. However, many patients refuse this treatment due to its risks, morbidity, and costs involved. Alternatively, dental compensation can be planned for some of these skeletal problems. This case report presents a dentoalveolar compensation in the orthodontic treatment of a 20-year-old female patient with class III malocclusion, concave profile, anterior crossbite, mandibular prognathism, maxillary retrusion, and a vertical deficiency in the posterior region. Treatment planning involved a multiloop edgewise archwire (MEAW) associated with intermaxillary elastics with counterclockwise rotation of the occlusal plane in the posterior region of the maxilla aiming at obtaining an increased posterior vertical dimension. After 24 months of treatment, the severe anterior crossbite was corrected, and the skeletal class III relationship was camouflaged. At the end of the orthodontic treatment, it was possible to observe an improved facial profile, a nice smile, and a functional occlusion. The results remained stable at a three-year follow-up. The MEAW, associated with the use of elastics, seems to be an effective treatment option for class III camouflage with reduced posterior vertical dimension with no need for additional anchoring devices but requiring adequate bending of wires and patient compliance.
Why It Is Not Always Anxiety: A Tough Diagnosis of Stiff Person Syndrome
Authors: Carmen Elena Cervantes, Hsien Lee Lau, Tina Ataian Binazir, Keith O O'Brien, Jonathan S Cross
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Anxiety disorder is a commonly used diagnosis that may mask underlying conditions. Stiff person syndrome (SPS) is a rare neuroimmunological disorder characterized by progressive rigidity and painful muscle spasms affecting axial and lower extremity musculature. These episodes can be triggered by sudden movement, noise, or emotional stress, which may present as a psychiatric condition. We report the case of a 30-year-old female who presented with recurrent panic attacks with multiple prior hospital admissions for anxiety, rigidity, and difficulty in walking. Previous electroencephalogram (EEG) and brain and cervical spine magnetic resonance imaging (MRI) were unremarkable. She was empirically treated with diazepam and beta-blockers for SPS, which was confirmed by positive glutamic acid decarboxylase (GAD) antibodies. The patient's symptoms became refractory to benzodiazepines and required steroids with intravenous immunoglobulin (IVIG). Her rigidity subsequently responded to plasmapheresis. In SPS, antibodies in the cerebrospinal fluid (CSF) most commonly target the GAD antigen on gamma-aminobutyric acid (GABA) neurons. The goal of treatment is to ameliorate symptoms and improve quality of life. Our case of SPS was masked as generalized anxiety disorder for at least six years since onset of symptoms. The criteria for both diagnoses may overlap as seen in this patient.
Trabectedin Drug Holiday and Rechallenge in Soft Tissue Sarcomas: Report of 4 Cases and Literature Review
Authors: Francesco Pierantoni, Marco Maruzzo, Antonella Brunello, Benedetta Chiusole, Grazia Pusole, Elisabetta Bezzon, Umberto Basso, Vittorina Zagonel
Journal: Front Oncol (2019)
Keywords: trabectedin, drug holiday, maintenance therapy, re-challenge, soft-tissue sarcoma
MeSH terms: Case Reports

Soft tissue sarcomas are rare neoplasms, with a high mortality rate. Few drugs are available for the treatment of patients affected by metastatic sarcomas, who still have a 5-years survival rate lower than 20%. However, some of the more recent therapies can obtain long lasting responses in a portion of patients, such as Trabectedin. We analyzed four such cases treated at our Institute after progression to an anthracycline based regimen. In each case a therapeutic pause was proposed after at least 6 months of therapy with Trabectedin and in three out of four patients a re-challenge was proposed at progression, achieving again disease control or response. In two cases oligo-progressive sites were treated with localized therapies as stereotactic radiotherapy, delaying the systemic treatment re-start. In this article the reports of the patients involved are presented with a concise review of the relevant literature. Our findings support the favorable safety profile of Trabectedin and the feasibility of drug holidays, which should be at least discussed with the patient.
Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results
Authors: Mingkun Shao, Yaoyao Wan, Weipeng Cao, Juan Yang, Di Cui, Minhui Ma, Wanqin Hu
Journal: Front Med (Lausanne) (2023)
Keywords: gap-polymerase chain reaction, large fragment deletion, long-read sequencing (lrs), multiplex ligation-dependent probe amplification (mlpa), thalassemia, β-globin gene (hbb)
MeSH terms: Case Reports

Background:
Thalassemia is a common inherited hemoglobin disorder caused by a deficiency of one or more globin subunits. Substitution variants and deletions in the HBB gene are the major causes of β-thalassemia, of which large fragment deletions are rare and difficult to be detected by conventional polymerase chain reaction (PCR)-based methods.
Case report:
In this study, we reported a 26-year-old Han Chinese man, whose routine blood parameters were found to be abnormal. Hemoglobin testing was performed on the proband and his family members, of whom only the proband's mother had normal parameters. The comprehensive analysis of thalassemia alleles (CATSA, a long-read sequencing-based approach) was performed to identify the causative variants. We finally found a novel 10.8-kb deletion including the β-globin (HBB) gene (Chr11:5216601-5227407, GRch38/hg38) of the proband and his father and brother, which were consistent with their hemoglobin testing results. The copy number and exact breakpoints of the deletion were confirmed by multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (Gap-PCR) as well as Sanger sequencing, respectively.
Conclusion:
With this novel large deletion found in the HBB gene in China, we expand the genotype spectrum of β-thalassemia and show the advantages of long-read sequencing (LRS) for comprehensive and precise detection of thalassemia variants.
Improving Data Quality in Clinical Research Informatics Tools
Authors: Ahmed AbuHalimeh
Journal: Front Big Data (2022)
Keywords: clinical research data, data quality, informatics, management of clinical data, research informatics
MeSH terms: Review

Maintaining data quality is a fundamental requirement for any successful and long-term data management. Providing high-quality, reliable, and statistically sound data is a primary goal for clinical research informatics. In addition, effective data governance and management are essential to ensuring accurate data counts, reports, and validation. As a crucial step of the clinical research process, it is important to establish and maintain organization-wide standards for data quality management to ensure consistency across all systems designed primarily for cohort identification, allowing users to perform an enterprise-wide search on a clinical research data repository to determine the existence of a set of patients meeting certain inclusion or exclusion criteria. Some of the clinical research tools are referred to as de-identified data tools. Assessing and improving the quality of data used by clinical research informatics tools are both important and difficult tasks. For an increasing number of users who rely on information as one of their most important assets, enforcing high data quality levels represents a strategic investment to preserve the value of the data. In clinical research informatics, better data quality translates into better research results and better patient care. However, achieving high-quality data standards is a major task because of the variety of ways that errors might be introduced in a system and the difficulty of correcting them systematically. Problems with data quality tend to fall into two categories. The first category is related to inconsistency among data resources such as format, syntax, and semantic inconsistencies. The second category is related to poor ETL and data mapping processes. In this paper, we describe a real-life case study on assessing and improving the data quality at one of healthcare organizations. This paper compares between the results obtained from two de-identified data systems i2b2, and Epic Slicedicer, and discuss the data quality dimensions' specific to the clinical research informatics context, and the possible data quality issues between the de-identified systems. This work in paper aims to propose steps/rules for maintaining the data quality among different systems to help data managers, information systems teams, and informaticists at any health care organization to monitor and sustain data quality as part of their business intelligence, data governance, and data democratization processes.