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Atypical Presentation of Crohn’s Disease: Diagnostic Challenges in a Clinical Case
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作者 Catarina Pinto Silva Rita Sevivas +5 位作者 Flávia Ramos Dany Cruz Cristina Marques Beatriz Rosa Márcia Ribeiro Carlos S. Oliveira 《Case Reports in Clinical Medicine》 2025年第1期10-14,共5页
Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosi... Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosis. This report highlights an unusual presentation of CD to emphasize the need for comprehensive diagnostic strategies. Case Report: A 25-year-old male presented with peripheral edema, anorexia, and abdominal distension but lacked classic gastrointestinal (GI) symptoms. Laboratory findings included microcytic anemia and hypoalbuminemia, while imaging revealed ascites and bowel wall thickening. Elevated fecal calprotectin and positive Anti-Saccharomyces cerevisiae antibodies (ASCA) supported the diagnosis. Endoscopy confirmed ileocolic Crohn’s Disease (L3 + L4). Infliximab therapy resulted in marked clinical improvement. Discussion: This case underscores the complexity of atypical CD presentations. Early use of serological markers, imaging, and endoscopy guided the diagnosis. Recognition of CD’s diverse manifestations is critical for timely intervention. Conclusion: Atypical CD presentations require heightened clinical suspicion and a multidisciplinary approach to reduce diagnostic delays and improve patient outcomes. 展开更多
关键词 Crohn’s Disease atypical presentation Diagnostic Challenges Inflammatory Markers INFLIXIMAB IMAGING
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Atypical Presentations of COVID-19
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作者 Deepthi Jayasekara Suranjith L. Seneviratne +1 位作者 Arindra Jayasekara Ishan De Zoysa 《Advances in Infectious Diseases》 2020年第3期136-142,共7页
Coronavirus disease 2019 (COVID-19), caused by SARS-CoV-2, emerged in Wuhan, China in December 2019. It has now spread to all parts of the world and as of 26<sup>th</sup> July 2020, more than 16 million ca... Coronavirus disease 2019 (COVID-19), caused by SARS-CoV-2, emerged in Wuhan, China in December 2019. It has now spread to all parts of the world and as of 26<sup>th</sup> July 2020, more than 16 million cases and over 600,000 deaths have been reported. The commonest presentation is respiratory in nature with non-productive cough, fever and shortness of breath. Some COVID-19 patients have had atypical or unusual presentations involving the neurological, metabolic, gastrointestinal, renal, haematological, cutaneous and cardiovascular systems. In this mini-review, we have outlined the main atypical or unusual clinical presentations of COVID-19. 展开更多
关键词 COVID-19 SARS-CoV-2 atypical presentation
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Atypical Presentation of Prostatic Cancer with Left Axillary and Supraclavicular Lymphadenopathy
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作者 Mohamed Izeldeen Ibrahim Abdulgadir Elsunny Hamadelnil +6 位作者 Mutaz Mohamed Rehab Osman Abdelrhman Tamir A. Mahmmoud Ahmed M. Elnour Hala Yagoub Lyla M. Alagab Ahmed Gaper Hamad 《Open Journal of Urology》 2022年第4期228-236,共9页
Introduction: The burden of prostatic cancer is rising in Sudan. Usually, they present late in their disease with urinary tract obstruction, hematuria, bony pain, or cachexia because there is no screening program. Her... Introduction: The burden of prostatic cancer is rising in Sudan. Usually, they present late in their disease with urinary tract obstruction, hematuria, bony pain, or cachexia because there is no screening program. Here we present a patient with prostatic cancer who presented with left axillary mass as his main concern. Case Description: 82-year-old Sudanese male presented with a left axillary and left supraclavicular lymphadenopathy of a few months’ duration. He underwent a decisional biopsy which showed metastatic adenocarcinoma. Upper and lower GI endoscopy were performed but the latter was complicated by a sigmoid perforation with peritonitis. During laparatomy, multiple enlarged pelvic lymphnodes were encountered and a biopsy result suggested a metastatic prostatic neoplasm. Later, prostatic biopsy confirmed the diagnosis. The patient was treated with bilateral orchidectomy. Clinical discussion: Lymphatic metastasis to axillary lymph nodes is a very rare manifestation of prostate cancer and only a few cases have been reported in the literature. It can cause diagnostic difficulty since prostate cancer typically metastasis to the pelvic lymph node and very rarely involves he supradiaphragmatic lymph node. Conclusion: Metastatic prostatic carcinoma should be considered among the causes of supra-diaphragmatic lymph adenopathy. Careful physical and imaging examinations combined with PSA and pathological analysis are essential in the diagnosis of advanced prostate cancer with unusual presentation. 展开更多
关键词 Prostatic Cancer ADENOCARCINOMA Axillary Metastasis Supraclavicular Metastasis atypical presentation
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A Case Report on Atypical Presentation of Cerebral Venous Sinus Thrombosis, a Young Adult with Recurrent Fall: A Clinical Quandary
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作者 Aishwarya Nandy Sayani Banerjee Rajesh Gupta 《Open Journal of Emergency Medicine》 2021年第4期171-178,共8页
Cerebral Venous Sinus Thrombosis (CVST) is blood clot in draining veins and venous sinuses of brain, causing hindrance in the blood drainage system in brain, disturbing the internal homeostasis of brain, resulting in ... Cerebral Venous Sinus Thrombosis (CVST) is blood clot in draining veins and venous sinuses of brain, causing hindrance in the blood drainage system in brain, disturbing the internal homeostasis of brain, resulting in local oedema, ischemia, venous haemorrhage, damage to brain parenchyma and blood brain barrier. In our case report, we discussed a rare presentation of CVST, a 16-year-old young boy who presented in emergency with history recurrent fall, weakness, tingling numbness. What makes it challenging to diagnose in his unusual presentation without common symptoms and on examination no positive neurological finding. This case brings focus on the importance of knowledge about CVST among emergency physicians. CSVT is considered more commonly as a differential diagnosis of stroke in young age group owning to genetic predisposition, hot humid climate of the state leading to severe dehydration, dietary factors leading to vitamin B12 deficiency & hyper-homocysteinemia etc. Moreover, present COVID-19, inducing a hypercoagulable state among affected individuals gave CVST a new momentous among emergency physicians. An early diagnosis can be very fruitful as it might prevent long term disability and reduce mortality significantly. 展开更多
关键词 Cerebral Venous Sinus Thrombosis Acute Neurological Emergency atypical presentation
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Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter)karyotype:A case report and review of literature
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作者 Imad Fadl-Elmula Sara Y Abdel-Raheem Rayan Khalid 《World Journal of Clinical Pediatrics》 2025年第4期516-522,共7页
BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causi... BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causing gene was identified as a mutation in the MECP2 gene,which is found in approximately 80%of patients diagnosed with Rett syndrome.Although chromosomal changes resulting in del(15)(q11q13)are usually associated with Angelman and Prader-Willi syndrome,very few cases,if any,of Rett syndrome with terminal 15q22-qter deletion have been published in English literature.CASE SUMMARY In this study,we report an unusual and rare clinical presentation of Rett syndrome in a 12-year-old Sudanese girl.The patient was brought in by her parents,complaining of gradual onset of abnormal walking,abnormal hand movement,loss of speech,and mental retardation for ten years.There was no reported history of convulsions or loss of consciousness.Clinical examination revealed microcephaly with no other apparent dysmorphic features,intact cranial nerves,and abnormal gait.She showed repetitive and stereotyped behaviors,including hand flapping,stimming,and chest pounding,which were concomitant with autism spectrum disorder.Magnetic resonance imaging and electroencephalography investigations were normal,and cytogenetic analysis showed 46,XX,del(15)(q22qter).Further molecular analysis using whole sequencing of MECP2 revealed an alteration cytosine>thymine at nucleotide 401,leading to phenylalanine replacing a serine at amino acid position 134.CONCLUSION This case,the first reported instance of Rett syndrome in Sudan,is of significant interest.The patient carries both the MECP2 gene mutation and the chromosome 15q22-qter deletion,which may explain the autistic behavior with atypical presentation of Rett syndrome.This report expands the genetic diversity of Rett syndrome,demonstrating how co-occurring 15q22-qter deletions can reshape MECP2-associated phenotypes in Rett syndrome. 展开更多
关键词 Rett syndrome Autism spectrum disorder Methyl-CpG-binding protein two gene mutation Chromosome 15 deletion atypical presentation Chromosomal analysis Case report
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An Incidental Finding and Unusual Presentation of Atypical Coccidioidomycosis in a 72-Year-Old Man: A Case Report
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作者 Alise Haddad Ethan Dimock +3 位作者 Joseph Hanna Rafi Haddad Michel Hanna Stephen Galens 《Case Reports in Clinical Medicine》 2023年第9期357-361,共5页
This case report presents an unusual and challenging diagnostic scenario involving a 72-year-old man who recently returned from a trip to Maui, Hawaii. While in Maui, the patient presented with a fever and fatigue tha... This case report presents an unusual and challenging diagnostic scenario involving a 72-year-old man who recently returned from a trip to Maui, Hawaii. While in Maui, the patient presented with a fever and fatigue that resolved spontaneously. However, he had an observable rash on his head and was given a steroid injection to resolve the rash. Later on his trip, the patient experienced a dry, nonproductive cough which resolved with a five-day course of prednisone. While visiting Michigan, the patient began to experience neck pain and visited Troy Beaumont Hospital for further treatment. Meningitis tests were negative. Vancomycin was given due to the detection of gram positive coccidioidomycosis in the culture, but this was later proven to be a contaminant. Coccidiomycosis does not initially have specific symptoms. Despite negative coccidioidomycosis antigen tests, the patient exhibited features more consistent with blastomycosis and cryptococcus, highlighting the complexities of diagnosing fungal infections with atypical presentations. The case emphasizes the importance of considering alternative fungal pathogens native to endemic regions and pursuing comprehensive diagnostic measures to establish an accurate diagnosis. Lastly, the discussion about recommendations for antifungal therapy and preventative measures for individuals at risk of respiratory fungal infections is critically important for the advancement of early detection of fungal infections. 展开更多
关键词 COCCIDIOIDOMYCOSIS BLASTOMYCOSIS CRYPTOCOCCUS Fungal Infections Diagnostic Challenges atypical presentation
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Abdominal aortic thrombosis as initial presentation of COVID-19 infection: A case report
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作者 William Zachary Webster Amrit Sraow Karla Cruz Morel 《World Journal of Clinical Infectious Diseases》 2020年第3期42-46,共5页
BACKGROUND The hypercoagulable state associated with coronavirus disease 2019(COVID-19)has been shown to complicate the course of this viral illness with both venous and arterial clots.Often presenting after hospitali... BACKGROUND The hypercoagulable state associated with coronavirus disease 2019(COVID-19)has been shown to complicate the course of this viral illness with both venous and arterial clots.Often presenting after hospitalization and known COVID-19 diagnosis,the etiology of thrombosis has been attributed to the hyperinflammatory state and endothelial dysfunction associated with COVID-19.This report portrays a patient who experienced an aortic thrombosis resulting in back and leg pain with subsequent loss of motor function of his legs as his initial presentation of COVID-19.CASE SUMMARY Patient is a 60-year-old Caucasian male with no medical history who presented with sudden onset pain in his lower back and lower extremities.He went on to experience complete motor loss of the lower extremities two hours after admission.Chest pain and shortness of breath developed one day later but were not present at time of presentation.Computed tomography angiography of the chest,abdomen,and pelvis revealed occlusion by thrombosis of the abdominal aorta in addition to multifocal pulmonary ground-glass opacities prompting COVID-19 PCR,which was positive.He was taken to surgery for attempted thrombectomy and the thrombus was retrieved starting from the right common femoral artery,but a second thrombus had immediately reformed in place of the prior thrombectomy site resulting in conclusion of the procedure.He was continued on unfractionated heparin and received a dose of tocilizumab 400 mg,but rapidly developed hemodynamic compromise and expired from cardiac arrest.CONCLUSION This presentation emphasizes the importance of evaluating patients for COVID-19 who experience unusual thromboses without superior explanation. 展开更多
关键词 COVID-19 Aortic thrombosis Arterial thrombosis atypical COVID-19 presentation COVID-19 complication Case report
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Beyond the Usual Suspects (Aortic Dissection in Patients with Chronic Kidney Disease)
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作者 Marwa Morgom Shazad Anjum +2 位作者 Sujood Musa Awadelseed Hanan Nayef Alajard Yageen Ismail Bakhiet 《International Journal of Clinical Medicine》 CAS 2024年第9期436-442,共7页
A comprehensive differential diagnosis is essential in the emergency department, even when patient presentations are atypical. Timely recognition of life-threatening conditions, such as aortic dissection, hinges on th... A comprehensive differential diagnosis is essential in the emergency department, even when patient presentations are atypical. Timely recognition of life-threatening conditions, such as aortic dissection, hinges on this critical diagnostic approach. 展开更多
关键词 Chest Discomfort atypical presentation of Aortic Dissection Differential Diagnosis Acute Type A Aortic Dissection Aortic Dissection Diagnosis
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Heavily calcified gastrointestinal stromal tumors:Pathophysiology and implications of a rare clinicopathologic entity 被引量:2
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作者 Massimiliano Salati Giulia Orsi +3 位作者 Luca Reggiani Bonetti Fabrizio Di Benedetto Giuseppe Longo Stefano Cascinu 《World Journal of Gastrointestinal Oncology》 SCIE CAS 2017年第3期135-141,共7页
Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, and are characterized by a broad spectrum of clinical, histological and molecular features at presentatio... Gastrointestinal stromal tumors(GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract, and are characterized by a broad spectrum of clinical, histological and molecular features at presentation. Although focal and scattered calcifications are not uncommon within the primary tumor mass, heavy calcification within a GIST is rarely described in the literature and the clinical-biological meaning of this feature remains unclear. Cases with such an atypical presentation are challenging and may be associated with diagnostic pitfalls. Herein, we report a gastric GIST with the unusual presentation of prominent calcifications that was identified incidentally on imaging during a post-trauma diagnostic work-up. The patient underwent laparoscopic surgery with a radical resection of the mass, which was subsequently characterized by histological analysis as spindle-shaped tumor cells, positive for CD117/c-KIT, CD34 and DOG1, and with calcified areas. Given the intermediate risk of recurrence, no adjuvant therapy was recommended andthe patient underwent regular follow-up for 22 mo, with no evidence of relapse. Our case can be considered of interest because of the rarity of clinical presentation and the uniquely large size of the GIST at diagnosis(longest diameter exceeding 9 cm). In closing, we discuss the pathophysiology and clinical implications of calcifications in GISTs by reviewing the most up-to-date relevant literature. 展开更多
关键词 Gastrointestinal stromal tumor CALCIFICATION STOMACH atypical presentation Computed tomography
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Leukemoid reaction in a patient with COVID-19 infection: A case report
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作者 Prabhat Agrawal Ashish Gautam +2 位作者 Anjana Pandey Harendra Kumar Nikhil Pursnani 《Journal of Acute Disease》 2022年第3期120-122,共3页
Rationale:COVID-19 usually presents with flu-like symptoms and signs,but some rare presentations like leukemoid symptoms cannot be ignored.Patient’s concerns:A 37-year-old female presented to the outpatient departmen... Rationale:COVID-19 usually presents with flu-like symptoms and signs,but some rare presentations like leukemoid symptoms cannot be ignored.Patient’s concerns:A 37-year-old female presented to the outpatient department with flu-like symptoms.Diagnosis:The RT-PCR test for SARS-CoV-2 infection was positive,while complete blood cell and peripheral blood smear showed leukemoid reaction.Intervention:Paracetamol and fexofenadine for flu-like symptoms and leukemoid presentation.Outcomes:On the 10th day,the patient was asymptomatic and RT-PCR was negative.So the patient was discharged and leukemoid presentation subsided after clearance of viral disease.Lessons:COVID-19 has a myriad of presentations,and unusual symptoms/signs especially in this pandemic could be induced by COVID-19 infection. 展开更多
关键词 COVID-19 Leukemoid reaction atypical presentation Abnormal total leucocyte count LEUKOCYTOSIS
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Disseminated soft tissue diffuse large B-cell lymphoma involving multiple abdominal wall muscles:A case report
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作者 Chang-Hoon Lee So-Yeon Jeon +1 位作者 Ho-Young Yhim Jae-Yong Kwak 《World Journal of Clinical Cases》 SCIE 2021年第28期8557-8562,共6页
BACKGROUND Diffuse large B-cell lymphoma(DLBCL)is the most common subtype of non�Hodgkin lymphoma,and patients with DLBCL typically present rapidly growing masses.Lymphoma involving muscle is rare and accounts for onl... BACKGROUND Diffuse large B-cell lymphoma(DLBCL)is the most common subtype of non�Hodgkin lymphoma,and patients with DLBCL typically present rapidly growing masses.Lymphoma involving muscle is rare and accounts for only 5%;furthermore,multiple muscles and soft tissue involvement of DLBCL is unusual.Due to unusual clinical manifestation,accurate diagnosis could be delayed.CASE SUMMARY A 61-year-old man complained of swelling,pain and erythematous changes in the lower abdomen.Initially,soft tissue infection was suspected,however,skin lesion did not respond to antibiotics.18Fluoro-2-deoxy-D-glucose(18F-FDG)positron emission tomography-computed tomography demonstrated FDG uptake not only in the skin and subcutaneous tissue of the abdomen but also in the abdominal wall muscles,peritoneum,perineum,penis and testis.DLBCL was confirmed by biopsy of the abdominal wall muscle and subcutaneous tissue.After intensive treatment including chemotherapy with rituximab,cyclophosphamide,doxorubicin,vincristine and prednisolone,central nervous system prophylaxis(intrathecal injection of methotrexate,cytarabine and hydrocortisone)and orchiectomy,he underwent peripheral blood stem cell mobilization for an autologous hematopoietic stem cell transplantation.Despite intensive treatment,the disease progressed rapidly and the patient showed poor outcome(overall survival,9 mo;disease free survival,3 mo).CONCLUSION The first clinical manifestation of soft tissue DLBCL involving multiple muscles was similar to the infection of the soft tissue. 展开更多
关键词 Primary extranodal diffuse large B-cell lymphoma Soft tissue lymphoma Disseminated muscles and soft tissue invasion atypical presentation of diffuse large B�cell lymphoma Central nervous system relapse Case report
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COVID-19 presenting with persistent hiccup and myocardial infarction in a peritoneal dialysis patient:A case report
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作者 Dimitra Bacharaki Panagiotis Giannakopoulos +5 位作者 Konstantinos Markakis Christos Papas Aikaterini Theodorou Vasiliki Zoi Georgios Tsivgoulis Sophia Lionaki 《World Journal of Virology》 2022年第4期198-203,共6页
BACKGROUND Persistent hiccups,lasting more than 48 h,have been described as an atypical presentation of coronavirus disease 19(COVID-19)in the general population.To the best of our knowledge,this is the first report o... BACKGROUND Persistent hiccups,lasting more than 48 h,have been described as an atypical presentation of coronavirus disease 19(COVID-19)in the general population.To the best of our knowledge,this is the first report of persistent hiccups and non-ST elevation myocardial injury(NSTEMI)as an atypical presentation of COVID-19 in a peritoneal dialysis(PD)patient.CASE SUMMARY A 70-year old man,who had been on PD for 3 years with a history of ischemic heart failure and reduced ejection fraction,presented for a scheduled radionuclide myocardial scan.Upon arrival,he complained of anorexia,nausea for 5 d,and unremitting hiccups for the previous 48 h.Clinical and laboratory examinations revealed an NSTEMI plus a positive nasopharyngeal reverse transcriptase polymerase chain reaction testing for severe acute respiratory syndrome coronavirus 2.COVID-19 lung involvement was mild and was resolved without specific treatment.Myocardial injury was managed by coronary catheterization and stenting,while hiccups responded only to baclofen per os.CONCLUSION Persistent hiccups and NSTEMI can be atypical presentations of COVID-19 in peritoneal dialysis patients,which may be due to involvement of the central nervous system and myocardial injuries. 展开更多
关键词 COVID-19 Peritoneal dialysis atypical presentation HICCUP Myocardial infarction BACLOFEN Case report
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Co-Occurrence of COVID-19 Infection and Intracerebral Hemorrhage in an Older Adult: A Case Report
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作者 Malarkodi Suppamutharwyam Tiong Ing Khieng 《Case Reports in Clinical Medicine》 2022年第4期106-115,共10页
Coronavirus disease 2019 (COVID-19) often has multifaceted presentations, even in young adults, which poses a significant challenge to clinicians who are caring for older adults. Older patients often present with subt... Coronavirus disease 2019 (COVID-19) often has multifaceted presentations, even in young adults, which poses a significant challenge to clinicians who are caring for older adults. Older patients often present with subtle atypical manifestations, and failure to recognize these may lead to a cascade of negative events. Age-related immune system changes, comorbidities, and atypical presentations often make early diagnosis of COVID-19 difficult. Here, we report a case of an 82-year-old moderately frail male patient who presented with generalized body weakness and tested positive for COVID-19. On the second day of admission, he developed unilateral body weakness and aphasia, and computed tomography of the brain revealed acute right frontal spontaneous intracerebral hemorrhage with no vascular anomaly. He did not have any traditional risk factors for intracerebral hemorrhage and was not on any anticoagulants. The course of this case illustrates the delicate balance between the atypical presentations of COVID-19, the importance of a comprehensive geriatric assessment, and the management of older adults during the COVID-19 pandemic. 展开更多
关键词 Advance Care Planning atypical presentation Comprehensive Geriatric Assessment COVID-19 Intracerebral Hemorrhage
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