OpenMed/multicare-articles huggingface dataset:
Case report: A case with atypical presentation oftesticular choriocarcinoma
Authors: Bin Zhong, Tao Zhang, Yi Dong, Wei Yin, Jian-Xin Zhang, Wei-Dong Jin
Journal: Front Oncol (2024)
Keywords: case report, missing diagnosis, preoperative test, retroperitoneal mass, testicular choriocarcinoma
MeSH terms: Case Reports

Testicular choriocarcinoma is a relatively rare malignancy with a highly aggressive nature. Timely diagnosis and treatment can help prolong the survival of patients and even cure them. This case reports a 29-year-old male who presented to the clinic for a month with epigastric pain. On examination, a massive mass of approximately 9*10 cm could be palpated in the upper abdomen. When asked about his previous history, the patient only described a history of a right inguinal hernia that had been repaired 12 years earlier. The admission diagnosis was considered the retroperitoneal tumor, which was found to have metastasized to the liver and lungs after the completion of relevant tests. We then performed a CT-guided lune puncture biopsy on day 8 of admission. The biopsy pathology suggested metastatic cancer was considered. As the symptoms of tumor compression gradually worsened, we performed surgical treatment (retroperitoneal tumor resection + partial duodenal resection + enteroanastomosis) on day 13 of admission. The postoperative pathology was choriocarcinoma. We subsequently conducted a detailed inquiry with the patient's family about his medical history and found a history of inguinal testicle. Through testicular ultrasound examination, it was preliminarily determined to be testicular choriocarcinoma (not yet pathologically confirmed). We wanted to start salvage chemotherapy as soon as possible after surgery. However, the patient's postoperative condition was poor, with rapid progression of hepatopulmonary metastases and gradually increased thyrotoxicosis, and we started salvage chemotherapy (EP regimen: etoposide and cisplatin) on postoperative day 12. However, the patient was forced to stop due to a severe chemotherapy reaction and died of respiratory and cardiac arrest in the hospital. For male patients with retroperitoneal mass, the possibility of germ-cell neoplasm should first be excluded. By inquiring in detail about a history of cryptorchidism and in the initial days of hospitalization, testicular exploration, ultrasounds, and serum tumor markers (AFP, β-HCG) tests can be conducted to rule out the possibility of germ-cell neoplasm, thereby preventing misdiagnosis and treatment delays. If the clinical diagnosis is metastatic germ-cell tumor with severe symptoms of metastatic disease, surgery should never be used as the initial treatment.
Pulmonary Langerhans Cell Histiocytosis: An Unusual Differential for a Solitary Lung Nodule
Authors: Tessabella M Magliochetti Cammarata, Sushan Gupta, Sai Sri Harsha Rallabhandi, Vishesh Paul
Journal: Case Rep Pulmonol (2024)
MeSH terms: Case Reports

Background:
Pulmonary Langerhans cell histiocytosis (LCH) commonly presents as bilateral reticulonodular and cystic lung changes on chest imaging. Isolated lung nodule presentation is rare. Case Presentation. Our patient was an elderly male and an active smoker, who was referred to the pulmonology clinic for an incidental 19 mm lung nodule seen on a chest CT scan. A CT-guided transthoracic needle biopsy was performed to rule out malignancy. The biopsy sample showed marked inflammatory infiltrate with abundant eosinophils and epithelioid histiocyte-like cells suggestive of Langerhans cell histiocytosis. Antibodies against CD1a and Langerhans were positive which confirmed the diagnosis. During follow-ups, the patient had reduced smoking, and the lung nodule had decreased in size to 14 mm.
Conclusion:
An isolated lung nodule in a patient with a smoking history always warrants a malignancy workup. Characteristic pathological findings with immunostaining are necessary to differentiate pulmonary LCH in these cases. Failure to perform immunostaining in such cases may lead to missing this vital diagnosis.
Case report: Fatal Borna virus encephalitis manifesting with basal brain and brainstem symptoms
Authors: Athanasios Lourbopoulos, Lea Schnurbus, Ricarda Guenther, Susanne Steinlein, Viktoria Ruf, Jochen Herms, Klaus Jahn, Volker Huge
Journal: Front Neurol (2024)
Keywords: borna virus-1, basal brain dysfunction, brainstem dysfunction, diagnostic algorithm, fatal encephalitis, meningoencephalitis, viral infection
MeSH terms: Case Reports

Background:
Since the first report of fatal Borna virus-1 (BoDV-1) encephalitis in 2018, cases gradually increased. There is a lack of diagnostic algorithm, and there is no effective treatment so far.
Case presentation:
We report an acute BoDV-1 encephalitis in a 77-year-old female with flu-like onset, rapid progression to word-finding difficulties, personality changes, global disorientation, diffuse cognitive slowness, and gait ataxia and further deterioration with fever, meningism, severe hyponatremia, epileptic seizures, cognitive decline, and focal cortical and cerebellar symptoms/signs. The extensive diagnostic workup (cerebrovascular fluid, serum, and MRI) for (meningo-)encephalitis was negative for known causes. Our empirical common antiviral, antimicrobial, and immunosuppressive treatment efforts failed. The patient fell into coma 5 days after admission, lost all brainstem reflexes on day 18, remained fully dependent on invasive mechanical ventilation thereafter and died on day 42. Brain and spinal cord autopsy confirmed an extensive, diffuse, and severe non-purulent, lymphocytic sclerosing panencephalomyelitis due to BoDV-1, affecting neocortical, subcortical, cerebellar, neurohypophysis, and spinal cord areas. Along with our case, we critically reviewed all reported BoDV-1 encephalitis cases.
Conclusion:
The diagnosis of acute BoDV-1 encephalitis is challenging and delayed, while it progresses to fatal. In this study, we list all tried and failed treatments so far for future reference and propose a diagnostic algorithm for prompt suspicion and diagnosis.
Flow diversion of cerebral aneurysms in Type I osteogenesis imperfecta: A case report of the first two treatments in humans
Authors: David A Zarrin, Jessica K Campos, Benjamen M Meyer, Alexander S Himstead, Fahad Laghari, Jonathan C Collard de Beaufort, Kiarash Golshani, Narlin B Beaty, Matthew T Bender, Geoffrey P Colby, Alexander L Coon
Journal: SAGE Open Med Case Rep (2024)
Keywords: cerebral aneurysm, flow diversion, osteogenesis imperfecta
MeSH terms: Case Reports

Osteogenesis imperfecta (OI) predisposes individuals to easy bone fracture, vessel fragility, and platelet dysfunction. We report the first known case of neurointerventional treatment with flow diversion of intracranial aneurysms in a patient with OI. A 62 year-old female with known OI Type I, history of >40 lifetime bone fractures and hypertension, underwent workup for transient ischemic attacks revealing a 4-mm right A1 segment aneurysm in 2016. Perioperative dual antiplatelet therapy was aspirin 81 mg and clopidogrel 37.5 mg daily. Tri-axial access was utilized to deploy a 3.5 × 16-mm Pipeline Flex device without complication. Two-month follow-up revealed Raymond I (O'Kelly Marotta I) obliteration of the aneurysm. Five-year follow-up revealed a de novo left-sided 3-mm A1-A2 junction aneurysm. A 4 × 12-mm Surpass Evolve was placed without complication. Six-month follow-up revealed Raymond I (O'Kelly Marotta I) obliteration of the second aneurysm. The patient remained asymptomatic at all follow-up visits.
Case report: A new treatment for restless leg syndrome: three cases
Authors: Ying Li, Wenjing Zhang, Hui Wang, Weiwei Zhang
Journal: Front Neurosci (2024)
Keywords: kidney failure, restless leg syndrome, sleep monitoring report, stellate ganglion block, sympathetic nerve
MeSH terms: Case Reports

Restless legs syndrome is a movement disorder that seriously affects the quality of life of patients. It is characterized by marked discomfort mainly occurring in the deep tissues of the lower extremities, including deep muscle or bone chafing, as well as crawling sensations or pulling sensations. These sensations often cause patients to awaken after falling asleep and to feel the urge to walk around, which seriously affects their sleep quality. Patients with restless leg syndrome exhibit significantly enhanced sympathetic nerve activity and immune disorders, while stellate ganglion blockage can block sympathetic nerves and regulate immune cells and cytokines to maintain immune system homeostasis. We report three patients with restless legs syndrome complicated with severe nephrotic syndrome. After treatment with stellate ganglion block, the symptoms in the restless legs were relieved within 1 month, and the quality of sleep was significantly improved. Our findings suggest that stellate ganglion block has broad promise in the management of restless legs syndrome patients with severe comorbidities.
A challenging diagnosis of plasmablastic lymphoma: importance of integrating morpholgy immunohistochemistry and flow cytometry findings (case report)
Authors: Zahra Kmira, Gereisha Ahmed, Cherif Wided, Moatamri Wided, Nfikha Zeineb, Abdessaied Nihed, Ben Youssef Yosra, Haifa Regaieg, Brahem Nejia, Khelif Abderrahim
Journal: Pan Afr Med J (2023)
Keywords: plasmablastic lymphoma, case report, flow cytometry, immunohistochemistry
MeSH terms: Multiple Myeloma / diagnosis, Plasmablastic Lymphoma / diagnosis, Plasmablastic Lymphoma / pathology, Case Reports, Adult, Flow Cytometry, Humans, Immunohistochemistry, Prognosis

Plasmablastic lymphoma (PBL) is a rare clinicopathological entity that still raises many diagnostic and management difficulties, particularly due to the overlap between plasmablastic lymphomas and myeloma features. We report a clinical presentation of PBL affecting bone marrow in a 43-year-old patient who was admitted for B symptoms, hepatosplenomegaly, and bicytopenia investigation. Based on these findings, acute leukemia was suspected. Bone marrow morphology immunohistochemistry and flow cytometry contributed to establishing the diagnosis of medullary PBL. The patient deteriorated and died due to septic shock. This pathology requires collaboration between clinicians, pathologists, and biologists to confirm the diagnosis early. Nevertheless, a delayed diagnosis may contribute to worsening the prognosis particularly due to advanced stage consultation. Our reported case illustrates a rare clinical presentation affecting bone marrow. In our context, a confrontation between flow cytometry and immunohistochemistry was of interest as it helped to detect the immunological features of this neoplasm.
Case report: Episodic psychosis caused by a novel SCP2 splicing mutation
Authors: Haiyan Tang, Yingying Luo, Zhenchu Tang, Jianguang Tang, Jia Fang
Journal: Front Neurol (2023)
Keywords: scp2 mutation, scpx deficiency, episodic psychosis, peroxisomal beta-oxidation, splicing mutation
MeSH terms: Case Reports

SCPx deficiency is a rare disorder of peroxisomal beta-oxidation dysfunction, and it has only been documented in two patients thus far. In the previously reported patients, both patients were primarily presented with slowly progressive dystonia or ataxia, and they both displayed symmetrical lesions in the thalamus and brainstem on magnetic resonance imaging. This study presents the third patient exhibiting a similar neuroimaging abnormality but a notably different clinical phenotype characterized by episodic psychosis. Through whole-exome sequencing, we identified a homozygous splicing mutation in SCP2 (c.674 + 1G > C), and further RNA sequencing revealed exon 8 skipping in the mature transcripts of SCP2. This study significantly expands our understanding of the genotypic and phenotypic spectrum associated with SCP2-related metabolic encephalopathy.
Mitral Valve Echodensities in a Young-Adult Female with Relapsing Polychondritis, Transiently Positive Lupus Anticoagulant, and Systemic Embolism
Authors: Michael C Sauer, Vikram Sharma, Jennifer L M Strouse, Ramzi El Accaoui, Christopher J Benson
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Background:
Valvular strands seen on echocardiography carry a wide differential diagnosis and may not always have a clear etiology despite taking clinical context into account. The decision of whether to provide anticoagulation for these lesions can be challenging. Case Presentation. A young adult female with an extensive rheumatologic history involving relapsing polychondritis and positive lupus anticoagulant presents to the emergency department with a discolored and painful right toe, as well as right auricular pain and swelling. Initial work-up revealed a possible splenic infarct, vasculitis of the right lower extremity, and mitral valve echodensities on echocardiography, without evidence of infective endocarditis. Due to concern that nonbacterial thrombotic endocarditis may be the cause of the patient's thromboembolic event, her valvular lesions were treated with low molecular weight heparin while awaiting serial imaging. When follow-up echocardiography showed no change in the size of her mitral valve lesions, which would be most consistent with Lambl's excrescences, the care team still faced a decision about which long-term anticoagulation to prescribe. This patient of childbearing age wished to avoid the teratogenicity and long-term monitoring associated with warfarin therapy. Although warfarin was the preferred agent for the patient's rheumatologic comorbidities, she elected to receive enoxaparin therapy for long-term thromboembolism prophylaxis.
Conclusions:
Even when accounting for clinical context, valvular lesions seen on echocardiography often have uncertain etiology and may require time and serial imaging to determine which treatment to pursue. When long-term anticoagulation is provided for females of childbearing age, shared decision-making with consideration of the patient's personal priorities and comorbidities is essential.
Case Report: Technical description and clinical evaluation of three cases of unilateral biportal endoscopic decompression for symptomatic spinal epidural lipomatosis
Authors: Zhengqiang Liu, Huili Cai, Hongwei Zhao, Lei Tang, Siyu Jia, Zhenyu Zhou, Can Zhuo, Haidan Chen
Journal: Front Surg (2024)
Keywords: sel grading, percutaneous biportal endoscopic surgery, spinal decompression, spinal epidural lipomatosis, unilateral biportal endoscopy
MeSH terms: Case Reports

Objective:
To investigate the clinical characteristics and outcomes of three patients with symptomatic Spinal epidural lipomatosis (SEL) treated using Unilateral Biportal Endoscopic (UBE) surgery.
Methods:
This report retrospectively analyzed the clinical data of three patients with SEL admitted to our hospital. The analysis covers onset characteristics, clinical manifestations, and the most recent radiologic grading system of neural compression (Manjila classification). Furthermore, it details the decompression accomplished through the application of a minimally invasive UBE surgical technique, specifically targeting the removal of proliferated fat responsible for nerve and spinal cord compression.
Results:
This technique was performed successfully in 3 patients with SEL. Radiating pain was reduced, and the functional disability and radiologic compression were improved in all three patients. Postoperative spinal instability and surgical complications related to the procedure were not observed.
Conclusions:
For SEL, timely diagnosis and appropriate intervention can prevent the progression of neurological disability. UBE is a minimally invasive muscle-preserving technique that achieves neural decompression directly by the removal of excessive intraspinal adipose tissue buildup.
Beyond the curriculum: A gay medical student's perceptions of health sciences education and healthcare access in KwaZulu-Natal
Authors: Sthembiso P Mkhize, Sanele Buthelezi, Attah M Mkhize, Lwandile Tokwe
Journal: Health SA (2024)
Keywords: lgbtiqa+, health sciences education, healthcare services, heteronormativity, inclusion

Background:
The prevailing social constructs of cis-heteronormativity and endosexism have structurally marginalised sexual and gender minorities, leading to their limited representation and inclusion in mainstream health systems and health sciences education.
Aim:
The study aimed to explore a gay medical student's perceptions of the health sciences curriculum and their experiences in accessing and utilising healthcare services offered both by the university and externally.
Setting:
At a university in KwaZulu-Natal, South Africa.
Methods:
This study originates from a larger qualitative study conducted in 2018, involving 12 Lesbian, Gay, Bisexual, Transgender (LGBT)-identifying participants who were selected using purposive and snowball sampling techniques. The larger study used a case study approach to explore how healthcare services meet the sexual health needs of LGBT youth. Among the 12 sampled participants, one participant self-identified as 'gay' and was pursuing a Bachelor of Medicine and Bachelor of Surgery. This participant was specifically selected for analysis in this study because of their knowledge of health sciences education and pursuit of a career in healthcare.
Results:
Three themes were identified in the participant's interview, including: (1) navigating healthcare services as a young gay man, (2) silenced voices: the impact of the limited Lesbian, Gay, Bisexual, Transgender, Intersex, Queer, Asexual and + (LGBTIQA+) health education, and (3) challenging the silenced voices.
Conclusion:
There is a need for a well-planned curriculum that includes LGBTIQA+ issues to equip healthcare professionals with the knowledge to provide high-quality care to all patients, regardless of their sex, gender, or sexuality.
Contribution:
The study provides solid proposals for developing an inclusive healthcare curriculum that considers identities beyond binary going forward.
Resolution of Sonographic Appendicitis in Pediatrics: a Point of Care Ultrasound Case-Series
Authors: Eric Scheier, Benjamin Taragin
Journal: POCUS J (2024)
Keywords: appendicitis, pocus, pediatric, ultrasound
MeSH terms: Case Reports

Studies of pediatric appendicitis treated conservatively show a considerable rate of recurrence. Point of care ultrasound (POCUS) imaging at our facility is routinely performed for abdominal pain and may be more likely than radiology-performed ultrasound to encounter cases that then self-resolve. We present a case series collected from a POCUS quality assurance review from 2019 through 2022. Five children were identified with sonographic appendicitis on review of stored POCUS images, and subsequent improvement of pain. A pediatric radiologist reviewed blinded images and agreed with the POCUS interpretation in all five cases. No child in this series received antibiotics. The national patient database was used to ensure that the patients in this series did not present elsewhere with appendicitis. We suggest that these cases represent early appendicitis that self-resolved. Patients should be aware that POCUS showed signs of appendicitis, and should seek medical attention for recurrence of symptoms.
Dysglycemia With Impaired Insulin Secretion After Resection of a High-Molecular-Weight IGF-II-Producing Tumor
Authors: Yasuho Shimada, Koh Yamashita, Izumi Fukuda, Toru Aizawa
Journal: JCEM Case Rep (2022)
Keywords: high-molecular-weight insulin-like growth factor-ii, insulin, β-cell function
MeSH terms: Case Reports

Analysis of insulin and related glucoregulatory hormone secretion following high-molecular-weight insulin-like growth factor II (HMW-IGF-II)-releasing tumor excision has never been reported. In a man with chronic hypoglycemia-plasma glucose (PG), 2.1 mmol/L with undetectable serum insulin, less than 7.2 pmol/L on admission-the cause of the hypoglycemia was HMW-IGF-II in the serum secreted by an intrathoracic benign pleural solitary fibrous tumor (size: 15 × 17 × 12 cm). Removal of the tumor nullified serum HMW-IGF-II and hypoglycemia. Postoperative glucose metabolism was evaluated day 272 by 75 g oral glucose tolerance test (OGTT) and on days 5, 202, and 990 by fasted sampling. Glycated hemoglobin A1c (HbA1c) was 37 to 41 mmol/mol, fasting PG was 5.3 to 5.4 mmol/L, and 2-hour PG at 75 g OGTT was 6.9 mmol/L, indicating that he was at the prediabetes stage. Homeostasis Model Assessment 2 of Insulin Resistance and Homeostasis Model Assessment 2 of β-Cell levels were within the normal range but the Stumvoll first phase was lowered. Insulin sensitivity and secretion were compared to age-, sex-, and body mass index-matched controls with normal glucose metabolism. Long-term HMW-IGF-II exposure of pancreatic islet β cells caused the functional impairment, that is, suppressed glucose-stimulated insulin secretion (GSIS), leading to nondiabetic hyperglycemia. This fact suggests long-term HMW-IGF-II exposure of the islet β cell specifically dampens GSIS.
Transnasal Endoscopic Treatment of Tension Pneumocephalus Caused by Posttraumatic or Iatrogenic Ethmoidal Damage
Authors: Goran Latif Omer, Riccardo Maurizi, Beatrice Francavilla, Kareem Rekawt Hama Rashid, Gianluca Velletrani, Hasan Mustafa Salah, Giulia Marzocchella, Mohammed Ibrahim Mohialdeen Gubari, Stefano Di Girolamo
Journal: Case Rep Otolaryngol (2023)
MeSH terms: Case Reports

Background:
Tension pneumocephalus is a neurosurgical emergency caused by progressive accumulation of air in the intracranial spaces mediated by a valve mechanism. Tension pneumocephalus usually presents with headaches, reduced consciousness, and even death. One of the most common causes is an ethmoidal defect resulted by nasal surgery or facial traumas.
Methods:
A literature review about tension pneumocephalus resulting from ethmoidal damages was performed. Surgery strategies included decompression by frontal burr holes and multilayer repair of the ethmoidal defect. In this paper, an endoscopic technique that exploits the ethmoidal defect to decompress the intracranial spaces and to resolve tension pneumocephalus with fewer complications and shorter hospitalization in comparison to frontal craniotomy is proposed.
Conclusion:
The proposed endonasal endoscopic technique could be effectively used as a first-line treatment for symptomatic tension pneumocephalus caused by posttraumatic or iatrogenic ethmoidal defect.
Case report: A case report and literature review of complete trisomy 9
Authors: Chenxia Xu, Miaoyuan Li, Jianming Peng, Yanfang Zhang, Haijun Li, Guobing Zheng, Degang Wang
Journal: Front Genet (2023)
Keywords: aneuploid, chromosomal disorder, complete trisomy 9, genetic counseling, prenatal diagnosis
MeSH terms: Case Reports

Complete trisomy 9 is a rare and lethal chromosomal anomaly characterized by multisystem dysmorphism and central nervous system (CNS) malformations. This study presents a case of complete trisomy 9 with an unusual phenotypic association and investigates the genetic pathways involved in this chromosomal abnormality. Trisomy 9 leads to a wide range of organ abnormalities, and this research contributes to a better understanding of the phenotype associated with this rare aneuploidy. The literature on the phenotypes of fetuses with various systems affected by complete trisomy 9 was reviewed and summarized. Correct diagnosis and appropriate counseling based on the characteristics of previous reports of fetuses with trisomy 9 is essential in maternity care and clinical management. To provide guidance and help for clinical diagnosis, this study aimed to explore the clinical and genetic characteristics of trisomy 9 syndrome to improve clinicians' understanding of the disease.