OpenMed/multicare-articles huggingface dataset:
Difficulties in the management of an Askin tumor in a pediatric patient with cystic fibrosis: case report and literature review
Authors: Cristian Marinău, Andrei Csep, Cristian Sava, Alin Iuhas, Larisa Niulaș, Ariana Szilagyi, Ladislau Ritli, Andreea Balmoș, Claudia Jurca
Journal: Front Pediatr (2023)
Keywords: askin’s tumor, ewing’s sarcoma, cystic fibrosis, pediatric cancer, pseudomonas aeruginosa infection
MeSH terms: Case Reports

Treating Ewing's Sarcoma of the thorax (Askin's tumor) with antineoplastic therapy in a malnourished cystic fibrosis patient colonized with Pseudomonas aeruginosa and Staphylococcus aureus may carry a significant potential for complications. We present the case of a known cystic fibrosis patient, diagnosed with Askin's tumor 5 years ago. Despite facing severe neutropenia, exacerbations of cystic fibrosis with Pseudomonas aeruginosa infections, and challenges in maintaining adequate caloric intake during the oncological treatment, the patient's outcome has been favorable. Chemotherapy doses had to be adjusted, and continuous antibiotic treatment was introduced throughout the course of therapy to reduce the frequency and intensity of exacerbations. Approximately 5 years after the cancer diagnosis, with no signs of relapse, the patient was started on CFTR (Cystic fibrosis transmembrane conductance regulator) modulator treatment. This intervention has successfully corrected the weight deficit. The coincidence of Ewing's sarcoma of the chest wall and cystic fibrosis in a single patient is 2.857 × 10-5% and to the best of our knowledge, this scenario has not been documented before.
Elevated Mood Induced by Subthalamic Nucleus Deep Brain Stimulation: A Video-Recorded Case Report
Authors: Patricia B Coutinho, Kara A Johnson, Andreea L Seritan, Nicholas B Galifianakis, Robert Coleman, Doris Wang, Caroline A Racine, Jill L Ostrem, Philip A Starr, Coralie de Hemptinne
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: deep brain stimulation, elevated mood, hypomania, mania, parkinson’s disease
MeSH terms: Deep Brain Stimulation / adverse effects, Parkinson Disease / physiopathology, Parkinson Disease / therapy, Subthalamic Nucleus / physiopathology, Case Reports, Video-Audio Media, Aged, Humans, Male, Video Recording

Background:
Deep brain stimulation (DBS) can be an effective therapy to control motor signs in patients with Parkinson's disease (PD). However, subthalamic nucleus (STN) DBS can induce undesirable psychiatric adverse effects, including elevated mood.
Case report:
We reported a video case of a 73-year-old male implanted with bilateral STN DBS who experienced stimulation-induced elevated mood. A correlation between mood changes and enhanced activation of the ventromedial region in the left STN was observed.
Discussion:
This video case report illustrates STN DBS-induced elevated mood and enhances early symptom recognition for patients and diagnostic awareness for professionals.
Case report: Metastatic refractory undifferentiated small round-cell sarcoma successfully treated with surufatinib and camrelizumab
Authors: Yong Li, Jinpeng Huang, Xian Chen, Yongsong Ye, Xiaohua Du, Ioannis A Voutsadakis, Mahesh Seetharam, Haibo Zhang, Min Lu
Journal: Front Oncol (2024)
Keywords: case report, programmed death-1 inhibitor, surufatinib, target therapy, undifferentiated small round-cell sarcoma
MeSH terms: Case Reports

Background:
Undifferentiated small round-cell sarcomas (uSRCSs) are a subgroup of sarcomas that are difficult to diagnose. Some uSRCSs have specific gene re-arrangements, but others do not. Currently, there is no specific treatments for advanced uSRCSs, and its treatment is largely based on general experience with sarcomas, which includes chemotherapy, targeted therapy, and immunotherapy. In this article, we report a patient with uSRCS who responded to treatment with anti-VEGF inhibitor surufatinib and anti-PD-1 inhibitor camrelizumab after progression on first-line chemotherapy, second-line anlotinib combined with immunotherapy, and third-line chemotherapy.
Case description:
In July 2020, a 37-year-old female patient was diagnosed with advanced uSRCS. Results for the Ewing sarcoma RNA binding protein 1 and Wilms tumor suppressor (EWSR1/WT1) fusion gene were negative. The patient was also negative with BCOR (BCL6 co-repressor) and CIC (capicua transcriptional repressor) fusion gene. The next-generation sequencing results revealed point mutations on Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta (PIK3CB), Transcription Factor Binding To IGHM Enhancer 3 (TFE3), Mucin 16 (MUC16), and AXL (Axl, also called UFO, ARK, and Tyro7, is part of a family of receptor tyrosine kinases). The patient received 4 cycles of the Ifosfamide and epirubicin hydrochloride regimen, and her best objective response was stable disease. On November 3, 2020, a computed tomography (CT) scan revealed progressive disease (PD). Two cycles of camrelizumab (a programmed death-1 inhibitor) plus anlotinib (an anti- vascular endothelial growth factor drug) were administered, but PD was again observed. Thus, a regimen of gemcitabine plus docetaxel was adopted. Unfortunately, the disease progressed once again after two cycles of the treatment. On February 4, 2021, the patient began to receive targeted therapy with surufatinib combined with camrelizumab. A CT scan showed that the tumor achieved a partial response. As of April 2023, the patient had a progression-free survival time of 26 months.
Conclusions:
Surufatinib in combination with camrelizumab could be effective in the treatment of advanced uSRCSs.
Central retinal vein occlusion in patients with metastatic solid tumors on tyrosine kinase inhibitors: a report of case series and literature review
Authors: Mingyue Luo, Lu Sun, Rongping Dai, Youxin Chen, Chan Wu
Journal: Front Med (Lausanne) (2024)
Keywords: intravitreal dexamethasone implant, macular edema, metastasis, retinal vein occlusion, tyrosine kinase inhibitors
MeSH terms: Review

Background:
Central retinal vein occlusion (CRVO) is a rare adverse effect related to the use of tyrosine kinase inhibitors (TKIs) in patients with metastatic malignancies, which has only been reported in several case reports.
Case presentation:
We reported the case series of three CRVO patients on regular regimens of TKIs as part of targeted therapies for metastatic malignancies, all of whom were otherwise healthy with no or well-controlled systemic conditions. All these patients received injections of intravitreal dexamethasone implant (IDI) and achieved a fluid-free macula at the end of the visit. In addition, we reviewed the existing literature on this subject and present here an updated analysis of the related TKIs, ocular presentation, treatment, and prognosis.
Conclusion:
All patients diagnosed with CRVO on TKIs received dexamethasone implant treatment and obtained a fluid-free macula. We would like to raise awareness among our colleague oncologists about the possibility of CRVO related to TKI use and the necessity for patients to be screened regularly by a retinal specialist.
Emergency Removal of a Proximal Tracheal Foreign Body by Tracheotomy in a Dog and a Cat
Authors: Teruo Itoh, Atsuko Kojimoto, Hiroki Shii
Journal: Case Rep Vet Med (2023)
MeSH terms: Case Reports

There have been few reports of emergency cases of proximal tracheal foreign bodies in dogs and cats. Here, we report a dog and a cat that underwent an emergency tracheotomy for a foreign body in the proximal trachea. Case 1 was a dog with respiratory arrest caused by a large stone in the proximal trachea. The stone was immediately removed via tracheotomy without anesthesia. After intubation and ventilation under anesthesia, hypoxia persisted but improved after aspiration of 100 mL of bloody fluid from the lower trachea. Case 2 was a cat with dyspnea because of a proximal tracheal stone and increased radiopacity in the right lung. The stone was removed via tracheotomy after mask induction of anesthesia, followed by intubation and incision closure. Radiographs immediately after extubation showed worsened right lung atelectasis, alleviated by reintubation and positive pressure ventilation. Both patients recovered completely after surgery. An emergency tracheotomy may be indicated for a large foreign body in the proximal trachea. Additionally, concurrent conditions in the lower respiratory tract should be addressed.
Unknown and Unacknowledged Dangers to Every Medical Student: A Rare Case of Nitric Acid Burns
Authors: Kavyanjali Reddy, Pankaj Gharde, Harshal Tayade, Mihir Patil, Lucky Srivani Reddy, Dheeraj Surya
Journal: Cureus (2024)
Keywords: chemical burns, emergency medicine, medical students, nitric acid, occupational hazards, preventive measures
MeSH terms: Case Reports

This case report delves into the often overlooked and unacknowledged hazards faced by medical students, exemplified by a rare incident of nitric acid burns. A 19-year-old male medical student with no notable medical, surgical, or familial history suffered a spillage of 69% nitric acid on the anterior aspect of the right thigh while engaged in laboratory work. Swift action, including immediate wound irrigation, application of silver sulfadiazine, and subsequent hospitalization, proved crucial in mitigating the burn's severity. Though vitally stable, the patient exhibited a distinctive color change in the wound during observation. Admitted to the general surgery ward, outpatient follow-ups revealed successful wound healing within four weeks, emphasizing the importance of prompt intervention and meticulous care in addressing chemical burn injuries among medical students. This report sheds light on the often-underestimated dangers inherent in pursuing medical education.
A Case Report of Falciform Ligament Appendagitis
Authors: Marta Manso, Lisa Agostinho
Journal: Cureus (2024)
Keywords: abdominal pain, acute abdomen, appendage torsion, falciform ligament appendagitis, focal fat infarction
MeSH terms: Case Reports

Falciform ligament appendagitis is an extremely rare form of intra-abdominal focal fat infarction. It usually presents with vigorous abdominal pain and mimics other more common acute abdominal pain-associated diseases. Better recognition of this entity avoids misdiagnoses and unnecessary surgical treatment. We present the case of a 73-year-old woman admitted to the emergency department for abdominal pain, nausea, and vomiting. She had a fever and a diffuse tender abdomen with upper right quadrant pain. Laboratory investigation showed leukocytosis and high C-reactive protein. CT revealed a heterogeneous increased density of fat adjacent to the falciform ligament. Falciform ligament appendagitis was diagnosed and antibiotic and anti-inflammatory treatment resulted in complete recovery. This case highlights the need to raise awareness and better recognize falciform ligament appendagitis to avoid unnecessary surgical interventions.
Aripiprazole-Associated Rhabdomyolysis in a 17-Year-Old Male
Authors: Ayşe Kutlu, Çisel Yazan Songür, Hurşit Apa
Journal: Arch Iran Med (2023)
Keywords: aripiprazole, atypical antipsychotics, case report, rhabdomyolysis
MeSH terms: Antipsychotic Agents / adverse effects, Rhabdomyolysis / chemically induced, Rhabdomyolysis / diagnosis, Rhabdomyolysis / drug therapy, Case Reports, Adolescent, Aripiprazole / adverse effects, Child, Humans, Male, Olanzapine, Risperidone / adverse effects, Aripiprazole, Antipsychotic Agents, Olanzapine, Risperidone

Rhabdomyolysis is a rare serious side effect of antipsychotic medication use. There are cases of rhabdomyolysis due to the use of clozapine, risperidone, olanzapine, and haloperidol in the literature. In this report, we describe a rhabdomyolysis case developed on the 13th day of using 2.5 mg /day aripiprazole in a 17-year-old male patient with a diagnosis of somatic symptom disorder. This case is one of the youngest in the literature to develop rhabdomyolysis after the use of aripiprazole. Moreover, this case is distinguished from the others with its low-dose, short-term and single antipsychotic use. In the child and adolescent age group, routine blood tests should be done before starting medication. Symptoms that appear to be nonspecific and that may be overlooked or may be thought to be caused by an existing psychiatric complaint should be carefully and thoroughly considered during follow-up.
Case report: A 17-year-old male with primary pulmonary osteosarcoma
Authors: Xin Wen, Liyan Xue, Xu Jiang, Jiuming Jiang, Meng Li, Li Zhang
Journal: Front Med (Lausanne) (2024)
Keywords: computed tomography, diagnosis, imaging, positron emission tomography, primary pulmonary osteosarcoma
MeSH terms: Case Reports

Primary pulmonary osteosarcoma is one of the extraskeletal osteosarcomas originating from the lung with an extremely low incidence and highly invasive potential. Here we report a case of primary pulmonary osteosarcoma treated in our hospital with a literature review. The patient, a 17-year-old male, had a cough and hemoptysis for 20 days. Computed tomography (CT) and positron emission tomography (PET)/CT were performed in our hospital. According to pathological examination after surgery, the tumor was diagnosed as a high-grade sarcoma with remarkable osteogenesis and necrosis. Based on radiological and histological examinations, a diagnosis of primary pulmonary osteosarcoma originating was considered. The patient underwent surgery and adjuvant chemotherapy. This patient has been under consecutive follow-up for nearly 8 years, showing no signs of recurrence or distant metastasis. Primary pulmonary osteosarcoma is a rare lung malignancy that shows rapid progression, nonspecific symptoms and inapparent signs at an early stage. The diagnosis of primary pulmonary osteosarcoma highly relies on imaging and histological examinations, among which chest CT is the predominant method to check this disease.
Long term survival achieved through combination of almonertinib and pyrotinib in EGFR-mutant/HER2-amplified advanced NSCLC patient: a case report and literature review
Authors: Xin Pan, Xiao Zhou
Journal: Front Oncol (2024)
Keywords: egfr mutation, her2 amplification, nsclc, almonertinib, pyrotinib
MeSH terms: Case Reports

Backgroud:
Human epithelial growth factor receptor 2 (HER2) amplification is an important mechanism of acquired resistance to anti-epidermal growth factor receptor (EGFR) therapy in non-small cell lung cancer (NSCLC) patients. For patients with both EGFR mutation and HER2 amplification, there is currently no unified standard treatment, and further exploration is needed on how to choose the therapy.
Methods and results:
A female NSCLC patient developed bone and brain metastases 14 and 42 months after radical surgery, respectively. The second genetic sequencing detected EGFR L858R mutation and HER2 amplification, and therefore initiated treatment with almonertinib and pyrotinib. The patient achieved partial remission and did not show any further progression during the follow-up period.
Conclusion:
For NSCLC patients with both EGFR mutation and HER2 amplification, the combination of almonertinib and pyrotinib is a valuable therapy that can continuously reduce tumor burden and achieve long-term survival.
A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review
Authors: Dapeng Cai, Haohao Wu, Baogang Huang, Weiwei Xiao, Kang Du
Journal: Front Neurol (2024)
Keywords: pla2g6, cerebellar atrophy, early-onset parkinsonism, heterogeneity, hot spot mutation
MeSH terms: Case Reports

This study reported a case of early-onset parkinsonism associated with a novel variant of the PLA2G6 gene. The boy first started showing symptoms at the age of 11, with gait instability and frequent falls. As the disease progressed, his gait instability worsened, and he developed difficulties with swallowing and speaking, although there was no apparent decline in cognitive function. An MRI of the head revealed significant atrophy of the cerebellum. The initial diagnosis for the boy was early-onset parkinsonism, classified as Hoehn-Yahr grade 5.Genomic sequencing of the patient indicated that he had compound heterozygous variations in the PLA2G6 gene: c.1454G>A (p.Gly485Glu) and c.991G>T (p.Asp331Tyr). Pedigree analysis revealed that his younger brother also carried the same variant, albeit with milder symptoms. The patient's unaffected mother was found to be a carrier of the c.991G>T variant. Additionally, this study reviewed 62 unrelated families with PLA2G6 gene-related early-onset parkinsonism. The analysis showed a higher proportion of female probands, with a mean age of onset of ~23.0 years. Primary symptoms were predominantly bradykinesia and psychosis, with tremors being relatively rare. Cerebellar atrophy was observed in 41 patients (66.1%). Among the reported mutations, the most common mutation was c.991G>T, presenting in 21 families (33.9%), followed by c.2222G>A in eight families (12.9%). Other mutations were less common. Notably, the c.991G>T mutation was exclusive to Chinese families and was a prevalent mutation among this population. The initial symptoms varied significantly among patients with different mutations.
Navigating Complexity: A Case Report of Concurrent Central Cord Syndrome and Stroke in an Elderly Gentleman
Authors: Hoe Teong Kee, Mohd Hezery Bin Harun, Fadzrul Abbas Mohamed Ramlee, Teck Siang Lim, Fahrudin Che-Hamzah
Journal: Cureus (2024)
Keywords: central cord syndrome, cerebro-vascular accident (stroke), cervical spinal cord injury, neuro-imaging, spinal decompression
MeSH terms: Case Reports

Central cord syndrome (CCS) predominantly manifests in elderly individuals with pre-existing cervical spondylosis resulting from hyperextension mechanisms. However, it is not exclusive to the older population and can occur in younger individuals following traumatic cervical spine injuries or, less frequently, due to nontraumatic causes. The impact of this syndrome is more pronounced in the upper extremities, where motor function experiences greater impairment compared to sensory function. CCS presents itself along a spectrum of severity. At one end, individuals may exhibit weakness confined to the hands and forearms while preserving sensory function. At the other extreme, complete quadriparesis may occur, albeit with sacral sparing being the sole indication of an incomplete spinal cord injury. This spectrum underscores the varied and nuanced clinical presentations within CCS. Moreover, concurrent acute stroke presentations can mimic CCS symptoms, further complicating the diagnostic process. The challenge lies in differentiating these two distinct conditions, particularly in an elderly population with overlapping risk factors. This diagnostic challenge adds a layer of complexity to clinical decision-making and underscores the importance of comprehensive evaluations in patients presenting with neurological symptoms. This case report presents a 73-year-old gentleman with a history of a recent stroke and motor vehicle accidents, highlighting the diagnostic challenges and multidisciplinary management required for concurrent CCS and stroke mimicry. This report is unique, as there are no existing case report publications detailing concurrent CCS and stroke. It emphasizes the necessity for a comprehensive diagnostic approach and coordinated care in managing such intricate cases.
A case report of challenges in distinguishing gastroesophageal junction hepatoid adenocarcinoma from testicular germ cell tumor: Insights for improved diagnosis with gene expression profiling
Authors: Omid Yazdanpanah, Fa-Chyi Lee, Roozbeh Houshyar, Mahra Nourbakhsh, Nataliya Mar
Journal: SAGE Open Med Case Rep (2024)
Keywords: gastric cancer, gene expression profiling, germ cell tumor, hepatoid adenocarcinoma
MeSH terms: Case Reports

Gastroesophageal junction hepatoid adenocarcinoma is a rare form of gastroesophageal cancer. We present a case of a 38-year-old man with no significant medical history who was diagnosed with gastroesophageal junction hepatoid adenocarcinoma but initially misdiagnosed with a testicular germ cell tumor, given the elevated alpha-feto protein and poorly differentiated pathology. We will elaborate on the importance of gene expression profiling in modern oncology to better define the tumor of origin in patients with cancer of unknown primary origin, how it helped us to diagnose gastroesophageal junction hepatoid adenocarcinoma and how it can help identify potential additional therapeutic targets in some cases. Due to the rarity of this subtype of gastroesophageal junction cancer there is a lack of standard therapeutic options, and we will discuss the most commonly used treatment regimens. The patient underwent three lines of antineoplastic therapy and unfortunately passed after 51 weeks of follow-up.
Recurrent mucinous carcinoma with sarcomatoid and sarcomatous mural nodules: a case report and literature review
Authors: Simin Li, Jingyu Zhu, Na Jiang, Yanping Guo, Meng Hou, Xi Liu, Jin Yang, Xiaofeng Yang
Journal: Front Oncol (2024)
Keywords: kras, tp53, mucinous ovarian carcinoma, mutation, sarcoma-like mural nodule, sarcomatous mural nodules, undifferentiated sarcoma
MeSH terms: Case Reports

Ovarian mucinous tumors with sarcomatous mural nodules are rare. Sarcomatous nodules have a bad prognosis. Its diagnosis and treatment are controversial.It is still controversial whether malignant mural nodules represent a dedifferentiated form of mucinous tumors or collisional tumors. This is a case report of a 32-year-old female diagnosed with ovarian mucinous tumor recurred as a mucinous carcinoma combined with sarcomatoid and undifferentiated sarcoma mural nodules after surgery and chemotherapy. The primary lesion did not have a sarcomatous component after comprehensive sampling and repeated review, while the recurrent lesion had a predominantly sarcomatous component. The patient received a second operation and postoperative chemotherapy plus Anlotinib with no progression at 16 months of follow-up. Primary mucinous carcinoma and sarcomatous mural nodules revealed the same K-RAS mutation(c.35G>T, pG12V), TP53 mutation (c.817C>T, p.R273C), MLL2 mutation(c.13450C>T, p.R4484) and NF1 mutation(c.7876A>G, p.S2626G). We present a comprehensive analysis on morphologic characteristics, molecular detection results, clinical management, and prognosis of ovarian mucinous tumors with mural nodules of sarcomatoid and undifferentiated sarcoma. Mutation sharing between primary mucinous carcinoma and recurrent sarcomatous nodules supports monoclonal origin of primary and recurrent tumors, suggesting a tendency for sarcomatous differentiation during the progression of epithelial tumors. Malignant mural nodules represent dedifferentiation in mucinous ovarian tumors rather than collision of two different tumor types. Therefore, it is imperative to conduct comprehensive sampling, rigorous clinical examination, and postoperative follow-up in order to thoroughly evaluate all mural nodules of ovarian mucinous tumors due to their potential for malignancy and sarcomatous differentiation.