OpenMed/multicare-articles huggingface dataset:
Case report and literature review: Orally ingested toothpick perforating the lower rectum
Authors: Xingliang Zhang, Mei Xing, Shaoyang Lei, Wentao Li, Zijin Li, Yibing Xie, Chenyu Zhu, Shuqian Zhang
Journal: Front Surg (2024)
Keywords: computed tomography, foreign bodies, gastrointestinal perforation, rectum perforation, toothpick
MeSH terms: Case Reports

Introduction:
Most foreign bodies (FBs) can spontaneously pass through the gastrointestinal tract. Sharp FBs are believed to be able to puncture any part of the gastrointestinal tract, causing perforation and potentially secondary damage to adjacent organs.
Case description:
A 44-year-old man complained of having persistent dull pain in the perianal region. He was diagnosed with a toothpick impacted into the wall of the lower rectum after accepting a digital rectal examination of the lower rectum and a pelvic computed tomography (CT). The surgeon extracted the FB using vascular forceps guided by the operator's index finger. The patient was discharged after intravenous ceftriaxone was given for 6 days. A follow-up pelvic CT performed 2 weeks after surgery revealed that the perirectal fat and muscles had already normalized.
Conclusion:
A systematic review of relevant literature from the past decade was performed to summarize the imaging features of an orally ingested toothpick perforating the gastrointestinal tract. The location of abdominal pain is an important clue for the diagnosis of toothpick perforation, and a CT examination is recommended as the first option for the detection of an ingested toothpick. Determining the location of the toothpick perforation and assessing the severity of local inflammation are important bases for the selection of treatment.
Hemoptysis and Unilateral Pulmonary Infiltrates due to Severe Acute Mitral Regurgitation from Papillary Muscle Rupture
Authors: Joanna Wieckowska, Nicholas Diloreto, Shannon Hood, Isabella Chojnacki, Dalia Zakri
Journal: Case Rep Pulmonol (2024)
MeSH terms: Case Reports

Acute mitral regurgitation typically presents with dyspnea, chest pain, and hemodynamic instability. It is an uncommon cause of hemoptysis. We present a case of a patient presenting with dyspnea and hemoptysis without hemodynamic instability along with right-sided infiltrate on chest radiography a few days after an acute inferolateral STEMI who was found to have posterior papillary muscle rupture resulting in acute mitral regurgitation. Our case illustrates that the aforementioned symptoms and signs should raise concern for acute mitral regurgitation and prompt cardiac evaluation in the appropriate clinical setting as they may mimic acute pulmonary processes and delay critical diagnosis and treatment.
Case report: Target and immunotherapy of a lung adenocarcinoma with enteric differentiation, EGFR mutation, and high microsatellite instability
Authors: Meiling Yang, Pengli Yu, Zhiyi He, Jingmin Deng
Journal: Front Immunol (2024)
Keywords: egfr, msi-h, immune checkpoint inhibitor, pmmr, pulmonary enteric adenocarcinoma
MeSH terms: Adenocarcinoma of Lung / drug therapy, Adenocarcinoma of Lung / genetics, Adenocarcinoma / drug therapy, Adenocarcinoma / genetics, Adenocarcinoma / pathology, Carcinoma, Non-Small-Cell Lung / drug therapy, Lung Neoplasms / drug therapy, Lung Neoplasms / genetics, Lung Neoplasms / pathology, Case Reports, Aged, ErbB Receptors / genetics, Humans, Immunotherapy, Male, Microsatellite Instability, Mutation, Protein Kinase Inhibitors / therapeutic use, ErbB Receptors, Protein Kinase Inhibitors, EGFR protein, human

Background:
Pulmonary enteric adenocarcinoma (PEAC) is a rare histological subtype of non-small-cell lung cancer (NSCLC) with a predominant (>50%) enteric differentiation component. The frequency of high microsatellite instability (MSI-H) is very low in lung cancer. EGFR tyrosine kinase inhibitors and immunotherapy are standard treatment for NSCLC patients, but their effectiveness in lung adenocarcinoma with pulmonary enteric differentiation is unknown.
Case presentation:
This report describes a 66-year-old man who was initially diagnosed with metastatic lung adenocarcinoma with EGFR mutation based on pleural fluid. A lung biopsy was obtained after 17 months of first-line icotinib treatment. Histological analysis of biopsy samples and endoscopic examination resulted in a diagnosis of adenocarcinoma with enteric differentiation. Next-generation sequencing of 1,021 genes showed EGFR E19del, T790M, and MSI-H, while immunohistochemical assay showed proficient expression of mismatch repair (MMR) proteins. Consequently, the patient was treated with osimertinib and had a progression-free survival (PFS) of 3 months. His treatment was changed to chemotherapy with/without bevacizumab for 6.5 months. Then, the patient was treated with one cycle of camrelizumab monotherapy and camrelizumab plus chemotherapy, respectively. The tumor continued to grow, and the patient suffered pneumonia, pulmonary fungal infections, and increased hemoptysis. He received gefitinib and everolimus and died 2 months later and had an overall survival of 30 months.
Conclusion:
In summary, our case describes a rare pulmonary enteric adenocarcinoma with an EGFR-activating mutation and MSI-H, responding to an EGFR tyrosine kinase inhibitor and poorly benefiting from an immune checkpoint inhibitor.
Sulfasalazine-Induced Epstein-Barr Virus-Positive Mucocutaneous Ulcer
Authors: Cedric Stabel, F J Sherida H Woei-A-Jin, Thomas Tousseyn, Maria Garmyn
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

Epstein-Barr virus (EBV) may cause a wide spectrum of symptomatology in humans ranging from asymptomatic upper respiratory tract infection to infectious mononucleosis and in more severe cases lymphoproliferative disorders or hemophagocytic lymphohistiocytosis. Its neoplastic potential is higher in immunocompromised individuals. We describe a case of EBV-positive mucocutaneous ulcer, a more indolent clinical entity on the spectrum of EBV-driven lymphoproliferative disorders, and are one of the first to put sulfasalazine, an immunomodulatory agent, forward as the possible culprit.
First Description of the Clinical Activity of Avapritinib in Sporadic Mesenteric Desmoid Tumor
Authors: Rebecca Ganzon, Wei Chen, Gabriel Tinoco
Journal: Case Rep Oncol Med (2024)
Keywords: gist, avapritinib, desmoid tumor
MeSH terms: Case Reports

Desmoid tumors (DTs) are rare and locally aggressive with a high rate of local recurrence even with optimal surgical resection. Systemic treatments are often utilized for desmoid cases with high risk of surgical morbidity or for local and symptomatic control of recurrent disease. However, the systemic treatment options for DTs are limited with limited responses. Avapritinib is a tyrosine kinase inhibitor (TKI) approved in 2020 for adults with unresectable or metastatic gastrointestinal (GI) stromal tumors (GISTs) harboring a platelet-derived growth factor receptor alpha (PDGFRA) Exon 18 mutation, including D842V mutations. In this case report, we describe a 55-year-old man with a history of D842V-mutant gastric GIST who presented several years after complete resection of the GIST with an enlarging soft tissue mass in the small intestine. After a nondiagnostic biopsy, the patient was started on avapritinib due to concerns for recurrent D842V-mutant GIST. The tumor had a partial response to treatment by RECIST 1.1 criteria, and the patient underwent surgical resection. The final pathology report revealed a sporadic DT. To our knowledge, this is the first known description of the activity of avapritinib in the treatment of a sporadic mesenteric DT, which is relevant given the limited treatment options for patients with this diagnosis. This clinical finding may be worth exploring in a dedicated clinical trial.
Case Report: Acute myocarditis in a patient with Duchenne muscular dystrophy
Authors: Xinyuan Zhang, Yingkun Guo, Huayan Xu
Journal: Front Cardiovasc Med (2024)
Keywords: duchenne muscular dystrophy, acute myocarditis, cardiac magnetic resonance, cardiac troponin i, case report
MeSH terms: Case Reports

Background:
Cardiovascular complications are the leading cause of death among individuals with Duchenne muscular dystrophy (DMD). However, due to the difficulty in evaluating individuals with inactive DMD, acute myocardial injury may be overlooked.
Case presentation:
An 11-year-old boy with DMD presented to the emergency department with a 5-day history of persistent nasal congestion, runny nose, and cough. He was regularly taking prednisolone acetate, angiotensin-converting enzyme (ACE) inhibitors, and β-blockers for suspected DMD-associated cardiomyopathy. Upon presentation, a substantially elevated cardiac troponin I (cTnI) level of 19.8 μg/L and abnormal electrocardiogram (ECG) results were detected. Further cardiac magnetic resonance imaging (CMR) showed myocardial inflammation with localized T2 hyperintensity from the basal to middle lateral and inferior walls, as well as late gadolinium enhancement (LGE) from the basal to apical inferior lateral walls, supporting a diagnosis of acute myocarditis. Subsequently, the patient showed clinical improvement in response to combination treatment with intravenous immunoglobulin, oral prednisolone acetate, potassium chloride sustained-release tablets, anti-heart failure medication, and broad-spectrum antibiotics.
Conclusions:
We report a rare case of acute myocarditis in a patient with DMD, potentially due to upper respiratory tract infection. This case highlights the importance of early myocarditis recognition and treatment in patients with DMD.
An unusual cause of significantly elevated blood alpha-fetoprotein levels: a case report and literature review
Authors: Yue Zheng, Jianping Yao, Jin Liu, Feimin Zhao
Journal: Front Oncol (2024)
Keywords: alpha-fetoprotein, clinical application, gastric cancer, gastric hepatoid adenocarcinoma, metastasis
MeSH terms: Case Reports

Alpha-fetoprotein (AFP) serves as a crucial diagnostic marker for primary hepatocellular carcinoma (HCC) and germ cell tumors (GCTs), with rare instances of significantly elevated levels in other diseases. In this study, we present a case of an elderly patient who was diagnosed with AFP-producing gastric cancer (AFPGC) following an elevated AFP result during physical examination. In investigating liver cancer at an early stage, the diagnosis was missed because of failure in detecting the lesion, resulting in delayed treatment initiation. AFPGC is a rare aggressive tumor that demands heightened awareness among clinicians to foster early detection, diagnosis, and treatment for improved prognosis.
Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome
Authors: Mingping Lan, Yanjuan Wang, Sixiu Li, Lili Zhao, Ping Liu, Wenguang Hu
Journal: Front Neurol (2023)
Keywords: setd1a gene, case report, infantile epileptic spasms syndrome, review, whole exome sequencing
MeSH terms: Case Reports

Infantile epileptic spasms syndrome (IESS) is one of the most common epileptic encephalopathies of infancy, with typical clinical features defined by a triad of epileptic spasms, hypsarrhythmia, and developmental delay. Genetic factors are important causes of IESS. The SETD1A (SET Domain Containing 1A) gene encodes a histone lysine methyltransferase that activates gene transcription through histone H3 lysine K4 methylation. Mutations in the SETD1A gene have been associated with schizophrenia, and some have been reported to cause seizures. Herein, we report a case of IESS caused by a SETD1A gene mutation. Video electroencephalography showed hypsarrhythmia. No specific findings were obtained after brain MRI and metabolic work-up. The seizures disappeared after treatment with adrenocorticotropic hormone, vitamin B6, and valproic acid during hospitalization. Genetic testing revealed that the child had a variant (NM_014712.3:c.3005_3,006 delAG, p.Glu1002Glyfs*20) in exon 12 of the SETD1A gene, representing a de novo mutation. There have been no previous reports on the SETD1A gene causing infantile spasms. We also summarize the existing literature on SETD1A gene-related epilepsy to provide a reference for clinical diagnosis and treatment.
A Rare Case of Adult Poorly Differentiated Chordoma of the Skull Base With Rapid Progression and Systemic Metastasis: A Review of the Literature
Authors: Keisuke Harada, Naoki Shinojima, Haruaki Yamamoto, Mai Itoyama, Daichi Uchida, Yuji Dekita, Satoru Miyamaru, Hiroyuki Uetani, Yorihisa Orita, Yoshiki Mikami, Kisato Nosaka, Toshinori Hirai, Akitake Mukasa
Journal: Cureus (2024)
Keywords: adult, ki-67 labeling index, poorly differentiated chordoma, rapid progression, skull base, systemic metastasis
MeSH terms: Case Reports

Chordoma is a rare tumor that arises from chordal tissue during fetal life. Recently, the concept of poorly differentiated chordoma, a subtype of chordoma characterized by loss of SMARCB1/INI1 with a poorer prognosis than conventional chordomas, was established. It predominantly occurs in children and is rare in adults. Here, we report a rare adult case of poorly differentiated chordoma of the skull base with a unique course that rapidly systemically metastasized and had the shortest survival time of any adult chordoma reported to date. The patient was a 32-year-old male with a chief complaint of diplopia. MRI showed a widespread neoplastic lesion with the clivus as the main locus. Endoscopic extended transsphenoidal tumor resection was performed. Pathological findings showed that the tumor was malignant, and immunohistochemistry revealed a Ki-67 labeling index of 80%, diffusely positive brachyury, and loss of INI1 expression. The final diagnosis was poorly differentiated chordoma. Postoperatively, the residual tumor in the right cavernous sinus showed rapid growth. The patient was promptly treated with gamma knife three fractions. The residual tumor regressed, but the tumor developed systemic metastasis in a short period, and the patient died seven months after diagnosis. This report of a rapidly progressing and fatal adult poorly differentiated chordoma shows the highest Ki-67 labeling index reported to date. Prompt multidisciplinary treatment should be considered when the Ki-67 labeling index is high.
Reviving Consciousness: A Neurophysiotherapy Triumph in Decompressive Craniotomy Recovery
Authors: Anandi R Dave, Nikita H Seth, Snehal Samal
Journal: Cureus (2024)
Keywords: decompressive craniotomy, hemmorhagic stroke, multimodal stimulation, neurophysiotherapy rehabilitation, postoperative cognitive dysfunction
MeSH terms: Case Reports

This case report presents a 54-year-old male with a history of type-2 diabetes mellitus who experienced sudden unconsciousness and vomiting, leading to aspiration and subsequent diagnosis of a hemorrhagic stroke. The patient underwent an immediate decompressive craniotomy, revealing a sizable intraparenchymal hematoma in the right basal ganglia and corona radiata. Postoperatively, the patient exhibited left-sided weakness, hyporeflexia, and cognitive impairment. A comprehensive neurophysiotherapy intervention addressed impaired mobility, strength, balance, coordination, respiratory complications, pain management, and other associated challenges. The rehabilitation protocol involved diverse strategies such as passive and active exercises, sensory stimulation, and the application of neurophysiotherapeutic approaches. The patient's progress was assessed using various outcome measures. Neurophysiotherapy plays a crucial role in the recovery of decompressive craniotomy.
Efgartigimod-associated Kaposi's varicelliform eruption and herpetic conjunctivitis in a patient with seropositive ocular myasthenia gravis: a case report and review
Authors: Lingzhi Ge, Yanyan Li, Ying Sun, Wenfang Chen, Xiaoli Ni, Fangli Wei, Zhen Mu
Journal: Front Immunol (2024)
Keywords: kaposi’s varicelliform eruption, efgartigimod, herpes simplex virus, herpetic conjunctivitis, myasthenia gravis, neonatal fc receptor antagonist
MeSH terms: Kaposi Varicelliform Eruption / drug therapy, Myasthenia Gravis / chemically induced, Myasthenia Gravis / diagnosis, Myasthenia Gravis / drug therapy, Myasthenia Gravis / immunology, Case Reports, Review, Conjunctivitis, Viral / diagnosis, Conjunctivitis, Viral / drug therapy, Herpes Simplex / diagnosis, Herpes Simplex / drug therapy, Herpes Simplex / immunology, Humans, Male, Middle Aged

Background:
Efgartigimod (Efgartigimod alpha fcab, Vyvgart™) is a pioneering neonatal Fc receptor (FcRn) antagonist for the treatment of severe autoimmune diseases mediated by pathogenic immunoglobulin G (IgG) autoantibodies, including myasthenia gravis (MG). It is a well-tolerated drug with minor side effects, such as headache and upper respiratory (lung) and urinary tract infections. Here, we present a case of Kaposi's varicelliform eruption (KVE) and herpetic conjunctivitis related to efgartigimod in a 60-year-old patient with ocular MG (OMG).
Case description:
A 60-year-old Chinese male suffered from acetylcholine receptor antibody positive (AChR Ab+) OMG for 8 years. During this period, he underwent first-line treatment with systemic corticosteroids, cyclosporine, cyclophosphamide, and so on, but had poor symptom improvement. On the recommendation of his attending neurologist, he received one cycle of intravenous efgartigimod (10mg/kg, once weekly for 4 weeks). The patient experienced fever, widespread painful blisters, and edema on the face on the third day after his last intravenous infusion. The patient also complained of increased secretions and a foreign body sensation in both eyes. Laboratory tests confirmed infection with herpes simplex virus (HSV). A diagnosis of efgartigimod-associated KVE and herpetic conjunctivitis was made. After intravenous administration (5mg/kg, 3 times a day, every 8 hours) for 10 days, the patient was cured without residual complications.
Conclusions:
This case is the first report of a patient with KVE and herpetic conjunctivitis related to efgartigimod in PubMed. This is rare and unusual. Clinicians should be alert to the rare symptoms related to efgartigimod.
Giant mucinous cystadenocarcinoma of ovary in a young woman: a case report and review of literature
Authors: SiHong Zhu, MeiZhen Yao, LingNa Xiong, BuZhen Tan
Journal: Front Oncol (2024)
Keywords: case report, gynecology, mucinous cystadenocarcinoma, ovarian epithelial tumor, young woman
MeSH terms: Case Reports

In April 2023, we successfully treated a 21-year-old patient afflicted with a rare giant cystadenocarcinoma, an extraordinarily large mucinous ovarian tumor that weighed nearly 25 kg. The preoperative dimensions of the tumor measured 40 × 30 × 34 cm, with the tumor's weight nearing 25 kg. Despite its uncommon nature, we elected to perform a right adnexectomy, greater omentectomy, and peritoneal biopsy during the surgical intervention due to the patient's youth and the family's expressed desire to preserve fertility. In the subsequent August follow-up, CT scans revealed the complete resolution of the tumor, accompanied by the normalization of tumor markers, indicating a favorable outcome.
Case Report: Successful treatment with methotrexate in a 10-year-old boy with co-occurrence of generalized psoriasis and vitiligo
Authors: Pui-Ying Leong, Tsu-Man Chiu, James Cheng-Chung Wei, An-Ping Huo
Journal: Front Immunol (2023)
Keywords: jak, biologics, methotrexate, psoriasis, vitiligo
MeSH terms: Biological Products, Janus Kinase Inhibitors, Psoriasis / complications, Psoriasis / diagnosis, Psoriasis / drug therapy, Vitiligo / complications, Vitiligo / diagnosis, Vitiligo / drug therapy, Case Reports, Child, Humans, Male, Methotrexate / therapeutic use, Methotrexate, Janus Kinase Inhibitors, Biological Products

The co-occurrence of psoriasis (PsO) and vitiligo is rare in Asian countries, especially in children. This case report presents the first-ever occurrence of PsO combined with vitiligo in an Asian boy under 6 years of age, in whom symptom improvement was observed after the use of methotrexate (MTX) as the sole treatment. Although previous studies have indicated that there is a close correlation between the two diseases, methotrexate (MTX), which is a commonly used treatment for PsO, is not a standard treatment for vitiligo. Even with advanced progress in biologics and Janus kinase inhibitor (JAKi), the biologics and JAKi used in vitiligo are still inconsistent. In our case report, the successful use of MTX indicated that there are shared immune pathways between PsO and vitiligo. Further exploration is needed to optimize the treatment options for this co-occurrence of PsO and vitiligo.
The first reported case of intravascular ultrasound-guided reverse overlapping stenting of a long calcified lesion using ultra-low contrast and metallic roadmaps: case report
Authors: Massoud A Leesar, Shao-Liang Chen
Journal: Eur Heart J Case Rep (2023)
Keywords: calcified lesion, case report, ivus, metallic roadmaps, reverse overlapping stenting, ultra-low contrast
MeSH terms: Case Reports

Background:
Percutaneous coronary intervention (PCI) of a long calcified coronary lesion in patients with chronic kidney disease (CKD) is challenging and can lead to stent under-expansion and contrast-induced acute kidney injury (CI-AKI). We described the first case of intravascular ultrasound (IVUS)-guided reverse overlapping stenting of long calcified left anterior descending (LAD) coronary lesion using ultra-low contrast and the metallic roadmaps to prevent CI-AKI after PCI.
Case summary:
A 77-year-old man with a history of hypertension, type 2 diabetes, and CKD was admitted with angina class 4 and ruled in for non-ST-elevation myocardial infarction. His ejection fraction was 40%. He was referred for cardiac catheterization and PCI. Coronary angiography showed a long calcified stenosis of the LAD. IVUS catheter was advanced at least 10 mm distal to the lesion or stent edge. IVUS images were obtained with automated pullback (1 mm/s) using a commercially available IVUS system with a 60-MHz mechanical transducer (Boston Scientific, Natick, Massachusetts). IVUS showed calcified plaque fractures after balloon angioplasty and intracoronary lithotripsy. The first stent was deployed proximally using the guidewire in the diagonal branch as a metallic roadmap, and the second stent was deployed distally overlapping at the distal edge of the first stent as a roadmap with no contrast injection. Percutaneous coronary intervention was completed successfully using only 12 mL contrast. Glomerular filtration rate remained stable after PCI. Glomerular filtration rate and ejection fraction improved at 12-month follow-up.
Discussion:
We described the first case of the reverse overlapping stenting technique guided by IVUS with no contrast in a patient with CKD and a long calcified LAD lesion. Conventionally, in long lesions, the first stent is deployed distally and the second stent proximally, which requires contrast injection for stent deployment. We demonstrated that the above technique resulted in preventing CI-AKI and improving creatinine as well as ejection fraction at follow-up.