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Background: The persistence of diagnostic errors, despite advances in medical knowledge and diagnostics, highlights the importance of understanding atypical disease presentations and their contribution to mortality and morbidity. Artificial intelligence (AI), particularly generative pre-trained transformers like GPT-4, holds promise for improving diagnostic accuracy, but requires further exploration in handling atypical presentations. Objective: This study aimed to assess the diagnostic accuracy of ChatGPT in generating differential diagnoses for atypical presentations of common diseases, with a focus on the model's reliance on patient history during the diagnostic process. Methods: We used 25 clinical vignettes from the Journal of Generalist Medicine characterizing atypical manifestations of common diseases. Two general medicine physicians categorized the cases based on atypicality. ChatGPT was then used to generate differential diagnoses based on the clinical information provided. The concordance between AI-generated and final diagnoses was measured, with a focus on the top-ranked disease (top 1) and the top 5 differential diagnoses (top 5). Results: ChatGPT's diagnostic accuracy decreased with an increase in atypical presentation. For category 1 (C1) cases, the concordance rates were 17% (n=1) for the top 1 and 67% (n=4) for the top 5. Categories 3 (C3) and 4 (C4) showed a 0% concordance for top 1 and markedly lower rates for the top 5, indicating difficulties in handling highly atypical cases. The χ2 test revealed no significant difference in the top 1 differential diagnosis accuracy between less atypical (C1+C2) and more atypical (C3+C4) groups (χ²1=2.07; n=25; P=.13). However, a significant difference was found in the top 5 analyses, with less atypical cases showing higher accuracy (χ²1=4.01; n=25; P=.048). Conclusions: ChatGPT-4 demonstrates potential as an auxiliary tool for diagnosing typical and mildly atypical presentations of common diseases. However, its performance declines with greater atypicality. The study findings underscore the need for AI systems to encompass a broader range of linguistic capabilities, cultural understanding, and diverse clinical scenarios to improve diagnostic utility in real-world settings.
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Inteligência Artificial , Humanos , Diagnóstico Diferencial , Erros de Diagnóstico/estatística & dados numéricos , Erros de Diagnóstico/prevenção & controleRESUMO
Background and Purpose: For the management of central nervous system (CNS) vasculitis, it is crucial to differentiate between primary and secondary CNS vasculitis and to understand the respective etiologies. We assessed the etiology, characteristics, and outcomes of patients with CNS vasculitis. Methods: A single-center retrospective chart review was conducted at the University of Utah, Department of Neurology, between February 2011 and October 2022. Results: The median age of the 44 included patients at diagnosis was 54 years; 25.0% were men. Compared to primary CNS vasculitis, secondary CNS vasculitis exhibits higher fever incidence (observed in infectious and connective tissue disorder [CTD]-associated vasculitis), low glucose levels (mostly in infectious vasculitis) and unique cerebrospinal fluid oligoclonal bands (observed in infectious and CTD-associated vasculitis). Patients with inflammatory cerebral amyloid angiopathy (CAA) were older and more commonly had microhemorrhage than primary angiitis of the CNS (PACNS). All patients with CTD-associated vasculitis had a known history of CTD at presentation. Brain biopsies were performed on 10 of 17 PACNS patients and 4 of 8 inflammatory CAA patients, confirming vasculitis in 7 and 4 patients, respectively. Intravenous methylprednisolone was the predominant induction therapy (63.6%), and cyclophosphamide was the most used adjunctive therapy. Cyclophosphamide, rituximab, azathioprine, and mycophenolate mofetil were utilized as maintenance therapy, often with concurrent prednisone. Patients with inflammatory CAA had a higher tendency for relapse rates than PACNS. Conclusions: This study highlights the variations in patients' characteristics, symptoms, and treatment for CNS vasculitis. Understanding these differences can lead to more efficient diagnostic and management strategies.
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BACKGROUND: The diagnosis and treatment of autoimmune optic neuritis (ON) has improved with the accessibility and reliability of aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) antibody testing, yet autoantibody-negative ON remains common. This study describes the demographic, clinical, and outcome data in patients with isolated ON across the pediatric and adult cohort. METHODS: A retrospective chart review of University of Utah Health patients with the International Classification of Diseases (ICD) code of ICD-9 377.30 (ON unspecified), ICD-9 377.39 (other ON), or ICD-10 H46 (ON) and at least 2 ophthalmologic evaluations were conducted between February 2011 and July 2023. Only isolated cases of ON without other brain or spinal demyelinating lesions were evaluated. Differences in demographic and clinical characteristics between AQP4, MOG, and Other-ON were determined. RESULTS: Of the 98 patients (15 children and 83 adults), 9 (9.2%) were positive for AQP4-IgG and 35 (35.7%) tested positive for MOG-IgG. Fifty-four were classified into Other-ON, of which 7 (13.0%) had recurrence or new demyelinating lesions during a median follow-up of 12.5 months-2 were ultimately diagnosed with recurrent isolated ON (RION), 1 with chronic relapsing inflammatory ON (CRION), 2 with multiple sclerosis, 1 with collapsin response-mediator protein (CRMP)-5-ON, and 1 with seronegative neuromyelitis optica spectrum disorder. Four patients were treated with long-term immunosuppressive therapy. No patients with RION or CRION had preceding infections; they had first recurrences of ON within 2 months. At presentation, AQP4-ON (75%) and MOG-ON (48.8%) had more severe vision loss (visual acuity <20/200) than Other-ON (23.2%, P = 0.01). At the 1-month follow-up, 93.0% of patients with MOG-ON and 89.3% of patients with Other-ON demonstrated a visual acuity ≥20/40, compared with only 50% of patients with AQP4-ON (P < 0.01). By the last follow-up, 37.5% of the AQP4-ON still exhibited visual acuity <20/40, including 25% who experienced severe vision loss (visual acuity <20/200). By contrast, over 95% of patients with MOG-ON and Other-ON maintained a visual acuity of ≥20/40. In our cohort, over a quarter of pediatric cases presented with simultaneous bilateral ON, 40% had a preceding infection, and 44.4% initially presented with a visual acuity <20/200. Two pediatric cases had recurrence, and both were MOG-ON. By their last follow-up, all pediatric cases had achieved a visual acuity of 20/40 or better. In addition, pediatric cases were more likely to exhibit disc edema compared with adult cases (100% vs 64%, P < 0.01). CONCLUSIONS: Despite recent advances in identification and availability of testing for AQP4-IgG and MOG-IgG, over half of patients who presented with isolated ON remained with an "idiopathic" diagnostic label. As more than 1 in 10 patients with AQP4-IgG and MOG-IgG negative ON experienced recurrence or develop new demyelinating lesions, clinicians should provide anticipatory guidance and closely monitor for potential long-term outcomes. In addition, it is crucial to re-evaluate the diagnosis in cases of poor recovery, ON recurrence, and the emergence of new neurological symptoms, as ON can often be the initial presentation of other conditions.
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PURPOSE: Diffuse gliomas are managed with radiation and temozolomide; however, this therapy often results in hematologic toxicities. Patients undergoing chemoradiation also risk contracting Pneumocystis jirovecii pneumonia (PJP), and frequently receive prophylaxis against PJP during treatment. Independent of chemoradiation, some PJP prophylaxis drugs have the potential to cause myelosuppression, which could require cessation of chemotherapy. Here, we evaluate differences in the frequency of hematologic toxicities during chemoradiation when patients receive PJP prophylaxis. METHODS: This retrospective chart review evaluated patients with primary brain tumors treated with radiation and concurrent temozolomide. Analyses were performed to assess the effect of the type of PJP prophylaxis on risk for neutropenia, lymphopenia, or thrombocytopenia and the severity of these adverse effects as defined using the Common Terminology Criteria for Adverse Events. RESULTS: Of the 217 patients included in this analysis, 144 received trimethoprim-sulfamethoxazole (TMP/SMX) and 69 received pentamidine. Of the patients who received TMP/SMX, 15.3% developed an absolute neutrophil count < 1500 cells/µL compared with 7.2% of patients receiving pentamidine (p = 0.10). Platelet count < 100,000/µL occurred in 18.1% of patients who received TMP/SMX and 20.3% of patients who received pentamidine (p = 0.70). No significant differences in lymphocyte counts between therapies were seen. Severity of hematologic toxicities were similar between PJP prophylaxis groups. CONCLUSION: These findings suggest that the type of PJP prophylaxis does not significantly affect the risk for hematologic toxicity in brain tumor patients receiving radiation and temozolomide. Additional studies are merited to evaluate the higher rate of neutropenia in patients on TMP/SMX observed in this study.
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Neoplasias Encefálicas , Neutropenia , Pneumocystis carinii , Pneumonia por Pneumocystis , Humanos , Pneumonia por Pneumocystis/etiologia , Pneumonia por Pneumocystis/prevenção & controle , Combinação Trimetoprima e Sulfametoxazol/efeitos adversos , Pentamidina/farmacologia , Pentamidina/uso terapêutico , Estudos Retrospectivos , Temozolomida/efeitos adversos , Neutropenia/induzido quimicamente , Neutropenia/prevenção & controle , Neoplasias Encefálicas/radioterapiaRESUMO
Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism that manifests as painless flaccid paralysis. An East Asian man in his late 20s presented to the emergency department with an acute onset of quadriparesis associated with hypertonia and hyperreflexia. His initial symptoms and signs suggested involvement of the brain and spinal cord; however, MRI of the neuroaxis was normal. His serum potassium concentration was low, and thyroid test results were consistent with hyperthyroidism. The patient was diagnosed with TPP associated with Graves' disease and was treated with potassium supplementation, propranolol and methimazole. Motor strength improved to his baseline level of power; bulk was normal, and tone was increased. Although flaccid paralysis is a typical presentation of TPP, brisk reflexes and muscle spasticity cannot rule out this condition. This case highlights the importance of considering TPP as a possible diagnosis in patients presenting with acute quadriparesis.
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Doença de Graves , Hipertireoidismo , Paralisia Periódica Hipopotassêmica , Tireotoxicose , Humanos , Masculino , Doença de Graves/complicações , Hipertireoidismo/complicações , Paralisia Periódica Hipopotassêmica/diagnóstico , Paralisia Periódica Hipopotassêmica/tratamento farmacológico , Paralisia Periódica Hipopotassêmica/etiologia , Paralisia/complicações , Potássio , Quadriplegia/complicações , Reflexo Anormal , Tireotoxicose/complicações , Tireotoxicose/diagnóstico , Tireotoxicose/tratamento farmacológico , AdultoRESUMO
A woman in her 20s presented with ascending weakness and paraesthesia along with flu-like symptoms. Neurological examination revealed right facial numbness along V2 distribution and flaccidity in her lower extremities, with a motor power of 0/5 throughout. The T4 sensory level and bilaterally positive Babinski sign were noted. Brain MRI revealed multiple bilateral T2/fluid attenuated inversion recovery hyperintense lesions with central enhancement involving the right trigeminal nerve. Full spine MRI demonstrated long-segment thoracic cord demyelination extending from T1 to T11 and nerve root enhancement. An extensive workup for infectious and autoimmune aetiologies was conducted, which revealed a positive COVID-19 result. The patient was diagnosed with encephalomyeloradiculitis secondary to COVID-19 infection. Encephalomyeloradiculitis is a rare neurological condition associated with various underlying conditions. Understanding the causes and differentiating these conditions is essential for appropriate treatment.
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COVID-19 , Feminino , Humanos , COVID-19/complicações , Medula Espinal , Imageamento por Ressonância MagnéticaRESUMO
BACKGROUND: The gamification of learning increases student enjoyment, and motivation and engagement in learning tasks. This study investigated the effects of gamification using decision-making cards (DMCs) on diagnostic decision-making and cost using case scenarios. METHOD: Thirty medical students in clinical clerkship participated and were randomly assigned to 14 small groups of 2-3 medical students each. Decision-making was gamified using DMCs with a clinical information heading and medical cost on the front, and clinical information details on the back. First, each team was provided with brief clinical information on case scenarios. Subsequently, DMCs depending on the case were distributed to each team, and team members chose cards one at a time until they reached a diagnosis of the case. The total medical cost was then scored based on the number and contents of cards drawn. Four case scenarios were conducted. The quantitative outcomes including confidence in effective clinical decision-making, motivation to learn diagnostic decision-making, and awareness of medical costs were measured before and after our gamification by self-evaluation using a 7-point Likert scale. The qualitative component consisted of a content analysis on the benefits of learning clinical reasoning using DMCs. RESULT: Confidence in effective clinical decision-making, motivation to learn diagnostic decision-making, and awareness of medical cost were significantly higher after the gamification. Furthermore, comparing the clinical case scenario tackled last with the one tackled first, the average medical cost of all cards drawn by students decreased significantly from 11,921 to 8,895 Japanese yen. In the content analysis, seven advantage categories of DMCs corresponding to clinical reasoning components were extracted (information gathering, hypothesis generation, problem representation, differential diagnosis, leading or working diagnosis, diagnostic justification, and management and treatment). CONCLUSION: Teaching medical students clinical reasoning using DMCs can improve clinical decision-making confidence and learning motivation, and reduces medical cost in clinical case scenarios. In addition, it can help students to acquire practical knowledge, deepens their understanding of clinical reasoning, and identifies several important clinical reasoning skills including diagnostic decision-making and awareness of medical costs. Gamification using DMCs can be an effective teaching method for improving medical students' diagnostic decision-making and reducing costs.
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Estudantes de Medicina , Humanos , Gamificação , Resolução de Problemas , Tomada de Decisão Clínica , Tomada de DecisõesRESUMO
Introduction: Guillain-Barré syndrome is an immune-mediated inflammatory polyneuritis characterised by rapidly progressive flaccid paralysis. Guillain-Barré syndrome may present with posterior reversible encephalopathy syndrome or reversible cerebral vasoconstriction syndrome in rare cases. Case description: A woman in her 60s with a history of follicular lymphoma presented with a one-week history of difficulty walking and thunderclap headaches. The patient was diagnosed with Guillain-Barré syndrome based on neurological examination, cerebrospinal fluid analysis and nerve conduction findings. Further diagnosis of posterior reversible encephalopathy and reversible cerebral vasoconstriction syndromes was based on imaging findings and headache history. The patient was treated with intravenous immunoglobulin and amlodipine, and symptoms improved. Discussion: We reviewed the literature on Guillain-Barré syndrome associated with posterior reversible encephalopathy and/or reversible cerebral vasoconstriction syndrome. The underlying pathophysiology may involve dysautonomia resulting in unstable blood pressure, and hyponatraemia causing endothelial dysfunction. The SNOOP mnemonic highlights the 'red flags'. This SNOOP mnemonic suggests the possibility of secondary headaches that require imaging studies. In this case, the patient exhibited three SNOOP symptoms: S (history of malignancy: follicular lymphoma), O (sudden-onset headache) and O (over 50 years old). Conclusion: This case highlights the importance of considering coexisting central neurological disorders in patients with Guillain-Barré syndrome. LEARNING POINTS: Guillain-Barré syndrome (GBS) alone rarely causes headaches; therefore, when GBS patients complain of severe headaches, especially when the headache is associated with 'red flags', other complications and differential diagnosis should be considered.Posterior reversible encephalopathy syndrome (PRES) and reversible cerebral vasoconstriction syndrome (RCVS) can be triggered by GBS.Hyponatraemia, age over 50 years and female gender may be risk factors for developing PRES and RCVS in GBS patients.
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Paraneoplastic neurological syndrome (PNS) mostly presents its symptoms prior to cancer treatment. We present a case of anti-Sry-like high mobility group box 1 (SOX-1) antibody-positive PNS diagnosed during the treatment of small-cell lung cancer (SCLC). A 65-year-old woman with a history of smoking and SCLC (T3N1M0) was hospitalized to receive chemo-radiation therapy. On day 14, the course was complicated by left mastitis associated with febrile neutropenia. Drainage was performed for the left mastitis, and cefepime was initiated. The fever subsided within a few days, but the patient became agitated accompanied by logorrhea. With the exception of mental status, her neurological examination was unremarkable. Due to mildly impaired renal function, cefepime encephalopathy was considered in the differential diagnosis, but the agitation grew worse despite cefepime discontinuation. Further evaluations, including brain magnetic resonance imaging without contrast and cerebrospinal fluid analysis, were unremarkable. Acyclovir and steroid pulse therapy were initiated empirically for herpes simplex virus (HSV) and PNS, respectively. On day 22, acyclovir was discontinued because the HSV polymerase chain reaction test result was negative. On day 26, the serum anti-SOX-1 antibody test was reported to be positive. Other paraneoplastic syndrome-associated antibodies, including anti-amphiphysin, CV2, PNMA2, Ri, Yo, Hu, recoverin, titin, zic 4, GAD 65, Tr, and N-methyl-D-aspartate receptor antibodies, were negative. The agitation improved gradually following the continuation of chemotherapy and steroid treatment. The patient was discharged on day 55 in stable condition. Although PNS mostly presents prior to cancer treatment, it is important to recognize that it may develop during the course of cancer treatment. Evaluation and empirical treatment for PNS should be considered in patients who develop encephalopathy during cancer treatment, as early treatment can lead to a better outcome.
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ATX-FGF14 (formerly spinocerebellar ataxia 27, OMIM #193003) is an autosomal dominant condition caused by a pathogenic variant in the fibroblast growth factor 14 (FGF14, OMIM #601515) gene located on chromosome 13. The phenotypic expression can vary in patients with the same genotype, often delaying diagnosis, especially in probands without known affected relatives and/or with limited available family history. We describe 2 cases of ATX-FGF14 in 1 family with a focus on the importance of differentiating episodic manifestations of neurogenetic conditions from inflammatory/autoimmune neurologic conditions. A 68-year-old male patient (case 1) presented with episodic dysarthria, dizziness, imbalance, and encephalopathy, creating suspicion for a possible autoimmune etiology. At the first evaluation, the patient reported no significant family history. Four years later, on revisiting the family history, he noted that his 49-year-old niece (case 2) had also developed neurologic symptoms of an unclear etiology. On evaluation, she had tremor and ataxia. Both patients also had coexistent evidence of systemic autoimmunity that likely contributed to the initial suspicion of neurologic autoimmunity, and neither had cerebellar or brainstem volume loss. Ultimately, their genetic testing revealed a pathogenic structural variant in the FGF14 gene, consistent with ATX-FGF14. These 2 cases highlight the importance of a detailed interval family history at each visit, especially in undiagnosed adult patients, as well as the importance of objectively analyzing the impact of immunotherapy diagnostic treatment trials to avoid unnecessary immunomodulatory medications.
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Degenerações Espinocerebelares , Masculino , Adulto , Feminino , Humanos , Idoso , Pessoa de Meia-Idade , Ataxia/genética , Cerebelo/metabolismo , Fatores de Crescimento de Fibroblastos/genética , Fatores de Crescimento de Fibroblastos/metabolismoRESUMO
The study evaluated the effectiveness of near-peer teaching in medical English education and found that it led to higher levels of motivation, curiosity, initiative, self-efficacy, learning goals, and psychological safety among participants compared to traditional teacher-centered approaches. The study also observed behavioral changes and active engagement in English learning among participants. We hope that our activity will inspire other educators to adopt similar approaches in their medical English classes and promote more effective language learning among health professionals.
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Objective: To assess the demographics, neurologic manifestations, comorbidities, and treatment of patients with seronegative primary Sjögren's syndrome (pSS). Patients and methods: We conducted a retrospective chart review on patients with seronegative pSS evaluated by a neurologist at the University of Utah Health between January 2010 and October 2018. The diagnosis was based on characteristic symptoms, positive minor salivary gland biopsy according to the American-European Consensus Group 2002 criteria, and seronegative antibody status. Results: Of 45 patients who met the study criteria, 42 (93.3%) were Caucasian, and 38 (84.4%) were female. The patients' mean age at diagnosis was 47.8 ± 12.6 (range 13-71) years. Paresthesia, numbness and dizziness, and headache were noted in 40 (88.9%), 39 (86.7%), and 36 patients (80.0%), respectively. Thirty-four patients underwent brain magnetic resonance imaging. Of these, 18 (52.9%) showed scattered nonspecific periventricular and subcortical cerebral white matter T2/fluid-attenuated inversion recovery hyperintense foci. Twenty-nine patients (64.4%) presented to the neurology clinic prior to pSS diagnosis, and the median delay in diagnosis from the first neurology clinic visit was 5 (interquartile ranges 2.0-20.5) months. Migraine and depression were the most common comorbidities in 31 patients (68.9%). Thirty-six patients received at least one immunotherapy, and 39 were on at least one medication for neuropathic pain. Conclusion: Patients often display various nonspecific neurological symptoms. Clinicians should express a high degree of skepticism regarding seronegative pSS and consider minor salivary gland biopsy to avoid delaying diagnosis, as undertreatment can affect patients' quality of life.
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Dissecção Aórtica , Doenças das Artérias Carótidas , Displasia Fibromuscular , Arterite de Células Gigantes , Humanos , Artéria Carótida Interna/diagnóstico por imagem , Displasia Fibromuscular/diagnóstico , Displasia Fibromuscular/diagnóstico por imagem , Arterite de Células Gigantes/diagnóstico , Artéria VertebralRESUMO
The Japanese Fellowship Program at the U.S. Naval Hospital Yokosuka has served as a liaison with Japanese hospitals during the transfer of acutely ill U.S. Navy patients since 1952. The SARS-CoV-2 pandemic has complicated this process and prompted the creation of a new framework that involves the Public Health Center. We present two international transfer cases of patients with positive SARS-CoV-2. The creation of a framework enabled a safe and smooth transfer process of patients with a favorable outcome. This report can help guide future cases of international transfer, especially for patients who need infectious disease surveillance. To our knowledge, we describe the first report of an international transfer of patients with positive SARS-CoV-2 test using a framework.
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Despite advancements in the pedagogy of medical education in various fields, Japan has no standardized medical English education. The U.S. Medical Licensing Examination (USMLE) Study Group of Tokushima is an extracurricular activity in which medical students and recent graduates meet every 1-2 months. The aim is to stimulate students' curiosityâ ;â cultivate their initiative, self-efficacy, and English learning goalsâ ;â and motivate them to be self-regulated learners. Accordingly, we conducted near-peer teaching style lectures that focused on sharing medical English-related experiences, so students could have regular opportunities to visualize the benefits of learning medical English. Following the activities, we observed increased motivation and self-study among students, resulting in a high USMLE passing rate. Furthermore, five members started their training at American hospitals and pursued careers in English-speaking environments. Thus, near-peer teaching style leads to shared medical English-related experiences that help students to visualize English-related opportunities. This education style taught by similar generations aids in setting a specific goal by providing access to role models, cultivating their initiative and self-efficacy, motivating them to learn English, and producing positive outcomes.Modifying the curriculum to actively create opportunities for students to visualize themselves in an international environment can motivate them to continue learning English. J. Med. Invest. 69 : 332-334, August, 2022.
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Educação Médica , Estudantes de Medicina , Currículo , Humanos , Japão , Aprendizagem , EnsinoRESUMO
The mRNA-1273 SARS-CoV-2 vaccine received emergency use authorization in December 2021. We present a case of myasthenia gravis (MG) which became clinically apparent following vaccination against SARS-CoV-2. A 30-year-old man developed acute onset diplopia, 2 days after receiving his first mRNA-1273 vaccination against SARS-CoV-2. He reported blurred vision with horizontally displaced images, which worsened with increased eye strain. Diplopia resolved when one eye was covered. He also had fatigable arm weakness, but denied dysphagia, dysarthria, dysphonia or dyspnoea. On examination, he had left-sided ptosis and esotropia at rest which worsened with sustained upward gaze and prolonged focus. He also had fatigable weakness of neck flexion and extension (4+/5), and generalized, fatigable weakness (4/5). His single-breath count was 38. Cranial nerves, sensory examination and deep tendon reflexes were normal. A 2-min ice-pack test and neostigmine test temporarily improved his diplopia and ptosis. The acetylcholine receptor (AChR) antibody was borderline high and muscle-specific tyrosine kinase (MuSK) antibody was negative. Chest CT and brain MRI with contrast were unremarkable. The patient was diagnosed with MG and oral pyridostigmine and prednisone therapy were initiated. We present a case of newly diagnosed MG after administration of mRNA-1273 vaccination against SARS-CoV-2. Although there has been long-standing discussion regarding the potential for vaccines to exacerbate autoimmune conditions, data remain sparse and consensus has not been reached. Consequently, this case is important to make providers aware of potential side effects of a novel vaccine, and may also help guide the selection of vaccination candidates and monitoring parameters. LEARNING POINTS: We present a case of newly diagnosed myasthenia gravis after administration of the mRNA-1273 SARS-CoV-2 vaccine.mRNA-1273 vaccination against SARS-CoV-2 may exacerbate subclinical cases of myasthenia gravis.Recognition of new vaccine side effects may guide the selection of vulnerable patients.
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The clinical manifestations of Takayasu arteritis (TA) greatly vary, and this ultimately leads to a delay in diagnosis. We describe a case of TA presenting with two coexisting rare symptoms of linear neck pain and prolonged cough. A 28-year-old Japanese female with a six-month history of ulcerative colitis presented with recurrent left neck pain, cough, and fever. The neck pain and fever started five months ago. Her symptoms briefly improved with nonsteroidal anti-inflammatory drug therapy, but eventually recurred one month prior to her latest presentation to the hospital, which was accompanied by a dry cough. Physical examination revealed a blood pressure discrepancy, with systolic blood pressure being >10 mmHg lower in her left arm than in her right arm, a bilateral carotid bruit, a weak left radial pulse and radio-radial delay without coolness in the upper extremities, and linear pulsatile tenderness in her left neck along the common carotid artery. No supraclavicular or infraclavicular bruit was noted. The erythrocyte sedimentation rate was elevated at 66 mm/hour. After obtaining the images from a contrast-enhanced computed tomography, she was diagnosed with TA. All her symptoms improved with prednisone therapy. Notably, neck pain and cough are both late-stage symptoms of TA, which are seen in 9.7% and 1.5% of patients, respectively. Although her unspecific symptoms could have been easily misdiagnosed, the recurring exacerbation of symptoms warranted careful attention to a focused physical examination. In conclusion, neck pain and cough are both uncommon presentations of TA, which may lead to physicians underdiagnosing it. It is important to recognize neck pain and cough as presenting complaints in patients with TA.
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BACKGROUND AND OBJECTIVES: The relationship between autologous hematopoietic stem cell transplant (aHSCT) for multiple myeloma (MM) and anti-GABAA receptor (GABAAR) encephalitis is unknown. We aimed to describe the clinical features, diagnostic process, and outcome of 3 cases of anti-GABAAR encephalitis in patients with a history of prior aHSCT for MM. METHODS: A case series of 3 patients. Anti-GABAAR antibody was tested at the University of Pennsylvania Laboratory. RESULTS: The patients were all male, aged 52 (case 1), 61 (case 2), and 62 (case 3) years at encephalitis symptom onset. The duration between completion of aHSCT and the onset of encephalitis was 43, 18, and 9 months, respectively. All 3 patients presented with new seizures and altered cognitive function. Other symptoms included headache and visual obscurations in cases 1 and 2 and intractable vertigo and mania in case 3. Brain MRI demonstrated nonenhancing multifocal T2-weighted/fluid-attenuated inversion recovery cortical and subcortical hyperintensities in all 3 patients. Cases 2 and 3 underwent brain biopsy before initiating immunomodulatory therapy, which demonstrated nonspecific encephalitis with astrogliosis in the white matter; these 2 patients were started on immunotherapy for the treatment of anti-GABAAR encephalitis after 22 days and 3 months, respectively, from the first presentation. Case 1 was started on empiric immunotherapy within 8 days of presentation without requiring brain biopsy, given characteristic MRI imaging. CSF analysis demonstrated the presence of anti-GABAAR antibodies in all 3 cases. Cases 1 and 3 also tested positive for anti-GABAAR antibodies in the serum (serum test was not performed in case 2). Cases 1 and 2 recovered to work full-time within 1 year. Case 3 reported occasional myoclonic-like movement. DISCUSSION: We highlight the importance of considering anti-GABAAR encephalitis in patients with seizures, multifocal nonenhancing brain lesions, and a history of aHSCT for MM. Awareness in recovered post-aHSCT patients with MM may be crucial because prompt recognition can avoid brain biopsy and delays in treatment. The rapid initiation of immunotherapy while awaiting autoantibody results will likely improve functional outcomes.
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Encefalite , Transplante de Células-Tronco Hematopoéticas , Mieloma Múltiplo , Autoanticorpos , Encefalite/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Masculino , Mieloma Múltiplo/terapia , Receptores de GABA-A , Convulsões/etiologiaRESUMO
A history of laparoscopic cholecystectomy and mobile echogenic foci identified on abdominal ultrasound may distinguish dropped gallstones complicated by abscess from other conditions that exhibit similar findings.