OpenMed/multicare-articles huggingface dataset:
Case report: NUP98::LEDGF fusion gene drives malignant hematological tumor with mixed immunological phenotype
Authors: Song Xue, Jia-Qi Chen, Tong Wang, Li-Na Zhang, Man Chen, Hui-Peng Sun, Xing-Yu Cao
Journal: Front Oncol (2024)
Keywords: aml, allo-hsct, nup98 rearrangement, nup98
MeSH terms: Case Reports

This is the first report of NUP98::LEDGF positive malignant hematological tumor expressing T cell and myeloid lineage antigens. Patients carrying this fusion gene have a high relapse rate and a poor prognosis, allo-HSCT may be an option to cure this disease. This patient underwent allo-HSCT, a relapse occurred three months post-transplantation. Subsequent screening at our hospital confirmed the presence of the NUP98::LEDGF fusion gene, salvage therapy was administered, followed by a successful second allo-HSCT. Furthermore, we included eight previously reported cases from the literature for analysis and discuss.
Primary catastrophic antiphospholipid syndrome in children with midbrain infarction: a case report
Authors: Qinghua Dong, Jianyun Yin, Hang Su, Qian Ni
Journal: Front Pediatr (2024)
Keywords: brain stem infarction, catastrophic antiphospholipid syndrome, chorea, pediatric, thrombosis
MeSH terms: Case Reports

Background:
Catastrophic antiphospholipid syndrome (CAPS) is a multi-system autoimmune disease characterized by extensive thrombosis. Pediatric CAPS is extremely rare and associated with a high mortality rate, especially when midbrain infarction is involved. Hence, early diagnosis and prompt initiation of appropriate treatment for CAPS complicated by midbrain infarction are of utmost importance in achieving favorable outcomes.
Case presentation:
In this report, we present the case of a 14-year-old girl who presented with neurological symptoms and digestive system infection and was initially diagnosed with an "intracranial infection". After a series of rigorous diagnostic procedures, the patient was ultimately diagnosed with primary CAPS and was immediately transferred to the intensive care unit where she was treated with anticoagulation, glucocorticoids, intravenous immunoglobulin (IVIG) therapy, and multiple plasma infusions. Twenty-seven days after admission, the patient's condition improved with standardized treatment, and she was discharged and followed up regularly.
Conclusion:
This case report provides a description of the clinical features observed in a pediatric patient with CAPS and concurrent midbrain infarction, highlighting the crucial role of early diagnosis and timely treatment in influencing patient prognosis.
Acute Viral Encephalitis Mimicking Idiopathic Intracranial Hypertension in an Immunocompetent Obese Adolescent Girl
Authors: Ramaning Loni, Abdulaziz H Khushaym, Abdulaziz B Aldoseri, Ali Alfehaid, Gabriel Fox, Shatha Hasan
Journal: Cureus (2024)
Keywords: encephalitis, headache, increased intracranial pressure, varicella infection, zoster
MeSH terms: Case Reports

Varicella zoster virus (VZV) is common worldwide and one of the main causes of infectious encephalitis. We report the case of a 13-year-old girl who presented to the emergency department with complaints of recurrent episodes of vague headaches associated with photophobia multiple times within three days before hospitalization. The patient had a history of morbid obesity without other metabolic complications as well as a history of chicken pox in childhood. Doctors subsequently diagnosed her with increased intracranial pressure owing to suspected VZV encephalitis. A lumbar puncture confirmed the presence of VZV in the cerebrospinal fluid. After admitting the diagnosis of VZV encephalitis, doctors treated the patient with intravenous acyclovir and discharged her with oral acyclovir. This case highlights the importance of considering VZV encephalitis in the differential diagnosis for patients presenting with headaches, especially in the presence of typical vesicular skin rashes. The case has an unusual complication associated with shingles, which doctors diagnosed early and treated appropriately.
Case report: Navigating treatment pathways for cardiac intimal sarcoma with PDGFRβ N666K mutation
Authors: Akihiro Nishiyama, Shigeki Sato, Hiroyuki Sakaguchi, Hiroshi Kotani, Kaname Yamashita, Koushiro Ohtsubo, Keishi Mizuguchi, Hiroko Ikeda, Kenji Iino, Hirofumi Takemura, Shinji Takeuchi
Journal: Front Oncol (2024)
Keywords: cdk4 amplification, mdm2 amplification, pdgfrβ n666k mutation, intimal sarcoma, precision oncology
MeSH terms: Case Reports

In the realm of rare cardiac tumors, intimal sarcoma presents a formidable challenge, often requiring innovative treatment approaches. This case report presents a unique instance of primary intimal sarcoma in the left atrium, underscoring the critical role of genomic profiling in guiding treatment. Initial genomic testing unveiled a somatic, active mutation in PDGFRβ (PDGFRβ N666K), accompanied by MDM2 and CDK4 amplifications. This discovery directed the treatment course toward pazopanib, a PDGFRβ inhibitor, following irradiation. The patient's response was remarkable, with the therapeutic efficacy of pazopanib lasting for 16.3 months. However, the patient experienced a recurrence in the left atrium, where subsequent genomic analysis revealed the absence of the PDGFRβ N666K mutation and a significant reduction in PDGFRβ expression. This case report illustrates the complexities and evolving nature of cardiac intimal sarcoma treatment, emphasizing the potential of PDGFRβ signaling as a strategic target and highlighting the importance of adapting treatment pathways in response to genetic shifts.
Rebuilding strength: surgical intervention and rehabilitation for bilateral spontaneous quadriceps tendon rupture-a case report
Authors: Huaize Dong, Jin Yang, Hao Yu, Jinsong Zhu, Jibin Yang
Journal: Front Surg (2024)
Keywords: bilateral, quadriceps tendon rupture, rehabilitation, spontaneous, surgical repair
MeSH terms: Case Reports

The quadriceps tendon, crucial for body movement, is among the body's strongest tendons. Factors like diabetes or hormone use can weaken it, making even minor trauma potentially causing rupture. Bilateral spontaneous quadriceps tendon rupture, where both tendons tear simultaneously, is rare. Prompt diagnosis and treatment are crucial. We present a case of a 44-year-old woman who experienced bilateral rupture after falling while doing chores. She had immediate pain and limited knee movement. Diagnosis via physical examination and CT/MRI scans confirmed the rupture. Surgical repair followed by rehabilitation led to significant pain reduction and improved function within two months. Overall, her postoperative outcome was satisfactory. This study underscores the importance of clear diagnosis, timely surgery, and thorough rehabilitation for optimal patient recovery from bilateral quadriceps tendon rupture.
An International Review of Workplace Violence Against Healthcare Providers: Sudan as a Case Study
Authors: Salah Eldin A Abdel Haleem, Haitham M El Bingawi
Journal: Cureus (2024)
Keywords: healthcare facilities, healthcare providers, khartoum, sudan, workplace violence
MeSH terms: Review

Workplace violence experienced by healthcare providers (HCPs) in Sudan has gone viral, driving many HCPs outside the country. Globally, HCPs have accepted workplace violence as a phenomenon integral to their clinical work, causing an underreporting of incidents. This study reviews the causes and explores solutions for the phenomenon. Search strategies were conducted using internet sources including PubMed, Embase, Google Scholar, and Cochrane. References to Sudan were limited to HCPs in public healthcare facilities. A descriptive analysis was conducted on the global status of workplace violence toward HCPs. Future interventions were examined and discussed considering Sudan's circumstances. Results showed the "pandemic" nature of the phenomenon. Workplace violence contributes to the deterioration of the quality and efficiency of the healthcare system with consequences for effective healthcare delivery. It is concluded that a multiapproach intervention needs to be integrated to circumvent the standing multifactorial situation. Statutory actions are needed towards the widespread violence and impunity. Workplace organizational procedures are needed to address the patient's needs that overwhelm scarce resources. Robust educational efforts are recommended by HCP training bodies, the media, and other stakeholders to improve the doctor/patient relationship.
Ruptured giant omphalocele with congenital short small intestine: a case report
Authors: Wenjing Zhang, Yang Wu, Cheng Pan, Xiangyun Zhang, Hong Yan, Li Zhang
Journal: Front Nutr (2024)
Keywords: congenital short small intestine, nutrition, omphalocele, perioperative management, vacuum-sealing drainage
MeSH terms: Case Reports

We herein present a case of a ruptured giant omphalocele with congenital short small intestine. Vacuum-sealing drainage and carboxymethylcellulose silver dressing promoted wound healing after repair, avoided abdominal compartment syndrome, and reduced the risks of multiple procedures. We review the perioperative management of omphaloceles in congenital short small intestines.
Unveiling the mystery: a rare case of localized malignant pericardial mesothelioma-case report
Authors: Yan Zhang, Mingjie Pang
Journal: Front Oncol (2024)
Keywords: 24 h pericardial effusion drainage, pet-ct examination, late gadolinium enhancement cardiac magnetic resonance, localized malignant pericardial mesothelioma, wax tissue
MeSH terms: Case Reports

Primary malignant pericardial mesothelioma (PMPM) is a rare pericardial malignant tumor. Most manifestations of PMPM are localized or diffuse masses surrounding the heart. The prognosis of diffuse PMPM is poor due to the difficulty of surgical resection. Although the edge of localized PMPM is clear and can be easily resected, the diagnosis of this disease is difficult. Timely diagnosis and proper treatment are key to a good prognosis. Here, we report a patient with localized PMPM and describe the method for the diagnosis of this disease.
Case report: Turcot syndrome type 2 in a developing country within the Caribbean
Authors: Melissa Daniel-Abdool, Brandon Griffith, Ute Bartels, Curt Bodkyn, Kevon Dindial
Journal: Front Oncol (2024)
Keywords: apc, caribbean, turcot syndrome, cancer predisposition syndromes, colorectal carcinoma, low-and-middle-income countries, medulloblastoma, pediatrics
MeSH terms: Case Reports

Medulloblastoma is the most common malignant pediatric brain tumor and has been linked to known cancer predisposition syndromes. We report a case of medulloblastoma of a 12-year-old Indo-Trinidadian female with a strong family history of colorectal carcinoma. In collaboration with the SickKids-Caribbean Initiative (SCI), her tumor was confirmed to be a WHO grade 4 medulloblastoma - Wnt subtype. Genetic testing further confirmed the presence of a pathogenic APC gene variant [c.3183_3187del (p.Gln1062*)] which led to a diagnosis of Turcot syndrome type 2. The index patient received multimodal therapy which included surgery, radiation and chemotherapy and is currently post end-of-treatment and in remission. This case report aims to highlight the complexity of diseases and the need for expertise in identifying them in low-and-middle income countries, the need for access to specialized testing and the benefits of collaborating between low-and-middle income and high-income countries when managing complex oncology patients.
An Unusual Presentation with Facial Hyperpigmentation on Escalation of the Dose of Sertraline
Authors: Omkar Dhungel, Indra Prasad Amatya, Pawan Sharma
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

Background:
Hyperpigmentation is a common side effect of different drugs with many of these having a well-explained mechanism and some even having a characteristic distribution. However, it is a rare side effect of sertraline, a selective serotonin reuptake inhibitor (SSRI), with only a few reported cases. In addition, there are no specific characteristics of the lesions or the risk factors. Case Summary. This is a case report of a 24-year-old male with panic disorder, who developed hyperpigmentation over the face after 5 days of increasing the dosage of sertraline to 100 mg/day. There were no other significant findings from the physical examination or investigations. The patient was treated as a case of sertraline-induced hyperpigmentation, and the dose was reduced to 75 mg/day and maintained at 50 mg/day after 1 week along with tablet propranolol 20 mg/day. He was also prescribed tablet tranexamic acid 500 mg/day and sunscreen with sun protection factor 50. The hyperpigmentation disappeared within 2 months, and the medication was gradually tapered after 7 months of treatment.
Conclusion:
Hyperpigmentation is a rare but distressing side effect of sertraline. It is a potentially curable side effect if recognized early. Early recognition and intervention can decrease unnecessary investigations and treatment. There are limited studies highlighting this unusual adverse effect of this commonly used SSRI. Hence, further studies are needed to better understand various aspects of this condition including the characteristics, patients at risk, and possible management. The development of diagnostic and treatment guidelines would decrease the dilemma of identification and management.
Pseudomonas guariconensis Necrotizing Fasciitis, United Kingdom
Authors: Edward J Moseley, Jian Cheng Zhang, O Martin Williams
Journal: Emerg Infect Dis (2024)
Keywords: pseudomonas guariconensis, united kingdom, antimicrobial resistance, bacteria, beta-lactamase, fasciitis, humans, integrons
MeSH terms: Fasciitis, Necrotizing / diagnosis, Fasciitis, Necrotizing / drug therapy, Fasciitis, Necrotizing / epidemiology, Pseudomonas Infections / diagnosis, Pseudomonas Infections / drug therapy, Pseudomonas Infections / epidemiology, Case Reports, Anti-Bacterial Agents / therapeutic use, Humans, Integrons, Microbial Sensitivity Tests, Pseudomonas aeruginosa / genetics, United Kingdom / epidemiology, beta-Lactamases / genetics, beta-Lactamases / metabolism, beta-Lactamases, Anti-Bacterial Agents, Pseudomonas guariconensis

We describe a case of necrotizing fasciitis in the United Kingdom in which Pseudomonas guariconensis was isolated from multiple blood culture and tissue samples. The organism carried a Verona integron-encoded metallo-β-lactamase gene and evidence of decreased susceptibility to β-lactam antimicrobial agents. Clinicians should use caution when treating infection caused by this rare pathogen.
Case Report: COVID-19 exacerbates acute lower limb ischemia in patients with popliteal artery entrapment syndrome
Authors: Li Bo, Du Xiaojiong
Journal: Front Cardiovasc Med (2024)
Keywords: covid-19, case report, non-traumatic lower limb ischemic diseases, popliteal artery entrapment syndrome (paes), young adults
MeSH terms: Case Reports

Non-traumatic lower limb ischemic diseases are extremely rare among young people. Clinically, they are mainly seen in the form of popliteal artery entrapment syndrome (PAES). In addition, with the prevalence of COVID-19 infection, more and more studies report that COVID-19 infection may lead to arteriovenous thrombosis, which could cause lower limb ischemia. This case reported that a 31-year-old male amateur football player who developed intermittent claudication after recovering from COVID-19. After 2 months of consultation, he was ultimately diagnosed with PAES. As is well known, PAES is mostly caused by long-term compression of the popliteal artery by abnormal anatomical structures, resulting in thickening of the vascular outer membrane and progression of the disease until intimal damage and thrombosis, leading to lower limb ischemia. During the progression of the disease, there may be multiple factors that accelerate its progression. Therefore, combined with the patient's clinical history and related studies on confirmed thrombosis caused by COVID-19, we can infer that COVID-19 could accelerate the occurrence of PAES.
A tumor-like renal arteriovenous malformation on 18F-PSMA-1007 PET/CT: a case report
Authors: Yaqi Feng, Wenjiang Zhao, Yawen Feng, Wenli Dai
Journal: Front Med (Lausanne) (2024)
Keywords: 18f-fdg, 18f-psma-1007, pet/ct, arteriovenous malformation, renal angiography
MeSH terms: Case Reports

Background:
Renal arteriovenous malformations (rAVMs) are congenital abnormal pathways between renal arteries and veins that are rare in the general population. It is often misdiagnosed as malignant renal tumors with abundant blood supply, and the definitive diagnosis primarily relies on angiography. Multimodality imaging, including contrast-enhanced computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET)/CT plays an important role in the differential diagnosis of renal space-occupying lesions.
Case presentation:
A 56-year-old man presented with abdominal distension, loss of appetite, and back pain without obvious cause 2 years ago, without nausea vomiting, or frequent urination. Gastroscopy and colonoscopy showed multiple polyps in the duodenum and colon. Abdomen contrast-enhanced CT revealed a mass of 1.6 × 1.4 cm in the left kidney, which was considered to be a malignant tumor. PET/CT was performed for further diagnosis; the 18F-fluorodesoxyglucose (18F-FDG) PET/CT scan showed mild uptake in the left renal mass, while no uptake of 18F- prostate-specific membrane antigen (PSMA) was observed. Following a multidisciplinary discussion, the possibility of renal AVMs was considered and subsequently confirmed by renal angiography as the diagnosis. Then, selective segmental renal artery embolization was performed for treatment.
Conclusion:
Renal AVMs are extremely rare in clinical practice. Due to limited research on the application of 18F-FDG and 18F-PSMA PET/CT to renal AVMs, its role remains largely unexplored. With the increasing popularity of PET/CT imaging, comprehensive imaging of the disease has become indispensable. We report the first case of PSMA PET/CT imaging in renal AVMs, and when PSMA expression is absent in a renal mass, the possibility of renal AVMs should be considered.
Necrotizing fasciitis and fatal septic shock associated with Streptococcus constellatus
Authors: Fareed Rajack, Shawn Medford, Tammey Naab
Journal: Autops Case Rep (2024)
Keywords: bacteremia, debridement, diabetic ketoacidosis, skin ulcer, streptococcus anginosus
MeSH terms: Case Reports

Streptococcus constellatus is usually a benign, commensal bacteria but has increased incidence in blood cultures and abscesses. This pathogenic involvement is most prevalent in individuals with underlying medical conditions, such as solid tumors and type 2 diabetes mellitus, as well as in cases of community-acquired infections. We report a 43-year-old male with a right medial thigh ulcer and necrotic scrotal skin. The wound culture from surgical debridement grew Streptococcus constellatus, and histology was consistent with stage III necrotizing fasciitis. Regardless of etiology, the mortality rate of patients with necrotizing fasciitis is greatly decreased with early intervention and thorough surgical debridement.
A case report and systematic literature review: insulin-induced type III hypersensitivity reaction
Authors: Rebecca R Meredith, Pooja Patel, Polly Huang, Chinelo Pamela Onyenekwu, Herleen Rai, Jody Tversky, Santiago Alvarez-Arango
Journal: Front Allergy (2024)
Keywords: igg-mediated hypersensitivity reactions, immune complex-mediated hypersensitivity, insulin allergy, insulin autoantibody, insulin hypersensitivity, insulin resistance, type iii hypersensitivity reaction
MeSH terms: Case Reports

Insulin-induced type III hypersensitivity reactions (HSRs) are exceedingly rare and pose complex diagnostic and management challenges. We describe a case of a 43-year-old woman with type 1 diabetes mellitus (DM), severe insulin resistance, and subcutaneous nodules at injection sites, accompanied by elevated anti-insulin IgG autoantibodies. Treatment involved therapeutic plasma exchange (TPE) and intravenous immunoglobulin (IVIg) as bridge therapy, followed by long-term immunosuppression, which reduced autoantibody levels and improved insulin tolerance. Given the limited treatment guidelines, we conducted a comprehensive literature review, identifying 16 similar cases. Most patients were females with a median age of 36.5 years; 63% had type 1 DM, and 44% had concurrent insulin resistance (56% with elevated autoantibodies). Treatment approaches varied, with glucocorticoids used in 67% of cases. Patients with type 1 DM were less responsive to steroids than those with type 2 DM, and had a more severe course. Of those patients with severe disease necessitating immunosuppression, 66% had poor responses or experienced relapses. The underlying mechanism of insulin-induced type III HSRs remains poorly understood. Immunosuppressive therapy reduces anti-insulin IgG autoantibodies, leading to short-term clinical improvement and improved insulin resistance, emphasizing their crucial role in the condition. However, the long-term efficacy of immunosuppression remains uncertain and necessitates continuous evaluation and further research.
Favorable response to PD-1 inhibitor plus chemotherapy as first-line treatment for metastatic gastric mixed neuroendocrine-non-neuroendocrine tumor: a case report
Authors: Lingnan Zheng, Lingqi Sun, Ji Ma
Journal: Front Pharmacol (2024)
Keywords: pd-l1, chemotherapy, gastric minen, immune checkpoint inhibitors, immunotherapy
MeSH terms: Case Reports

Gastric mixed neuroendocrine-non-neuroendocrine tumor (MiNEN), a rare malignancy, currently has no standard treatment. Here, we report a patient with pathologically confirmed gastric MiNEN following radical surgery with rapid postoperative distant tumor recurrence. Immunofluorescence results suggested intensive lymphocyte infiltration in the tumor. The programmed death receptor ligand 1 (PD-L1) immunohistochemistry 22C3 pharmDx assay showed tumor proportion score was 5% and combined positive score was 10. After 6 cycles of treatment with etoposide and cisplatin in combination with toripalimab, efficacy was assessed as a complete response. Our report shows that for gastric MiNEN patients with high expression of PD-L1, chemotherapy combined with immune checkpoint inhibitors may achieve more significant efficacy.