OpenMed/multicare-articles huggingface dataset:
Immune-related adverse events with severe pain and ureteral expansion as the main manifestations: a case report of tislelizumab-induced ureteritis/cystitis and review of the literature
Authors: Qihao Zhou, Zhiquan Qin, Peiyuan Yan, Qunjiang Wang, Jing Qu, Yun Chen
Journal: Front Immunol (2023)
Keywords: case report, cystitis, immune-related adverse events, tislelizumab, ureteritis
MeSH terms: Cystitis / chemically induced, Cystitis / diagnosis, Cystitis / drug therapy, Gastrointestinal Diseases / chemically induced, Neoplasms, Urinary Tract Infections, Review, Case Reports, Adult, Antibodies, Monoclonal, Humanized / adverse effects, Humans, Inflammation / chemically induced, Male, Pain / chemically induced, tislelizumab, Antibodies, Monoclonal, Humanized

Immune checkpoint inhibitor (ICI) is an up-to-date therapy for cancer with a promising efficacy, but it may cause unique immune-related adverse events (irAEs). Although irAEs could affect any organ, irAEs-induced whole urinary tract expansion was rarely reported. Herein, we reported a 27-year-old male patient with thymic carcinoma who received the treatment of tislelizumab, paclitaxel albumin and carboplatin. He was hospitalized for severe bellyache and lumbago after 6 courses of treatment. Antibiotic and antispasmodic treatment did not relieve his symptoms. The imaging examinations reported whole urinary tract expansion and cystitis. Therefore, we proposed that the patient's pain was caused by tislelizumab-induced ureteritis/cystitis. After the discontinuation of tislelizumab and the administration of methylprednisolone, his symptoms were markedly alleviated. Herein, we reported a rare case of ICI-induced ureteritis/cystitis in the treatment of thymic cancer and reviewed other cases of immunotherapy-related cystitis and tislelizumab-related adverse events, which will provide a reference for the diagnosis and treatment of ICI-related irAEs.
Case report: Bronchoscopic intervention for rare benign airway tumors: a report of 4 cases and literature review
Authors: Zhifang Cui, Jinhong Wang, Hongwu Wang, Lei Li, Xiaohui Si, Yanbin Zhang, Heng Zou
Journal: Front Oncol (2024)
Keywords: benign airway tumors, bronchoscopic, case series, endoscopic treatment, rare tumors
MeSH terms: Case Reports

Due to their unique location, airway tumors have a significant impact on patient quality of life and survival. Current research has focused extensively on malignant airway tumors; however, benign airway tumors, especially rare ones, are less understood due to their low incidence. These tumors are often misdiagnosed and mistreated due to diagnostic challenges. Therefore, there is still a lack of consensus on the treatment of some rare benign airway tumors. Our center summarizes the diagnosis and treatment of four rare cases of benign airway stenosis in recent years, highlighting the bronchoscopic manifestations and therapeutic approaches to improve the understanding of these diseases.
Cough Causing Abdominal Pain? A Rapid POCUS Diagnosis of Rectus Sheath Hematoma
Authors: William Noel, Brian B Donahue
Journal: POCUS J (2023)
Keywords: anticoagulation, cough, rectus sheath hematoma, ultrasound case presentation
MeSH terms: Case Reports

We present a case of a 59-year-old man who arrived to the emergency department with abdominal pain and bruising after coughing. Point of care ultrasound (POCUS) was used to make the diagnosis of rectus sheath hematoma (RSH). This diagnosis was made within minutes of arrival to the ED and subsequently confirmed on computed tomography (CT) of the abdomen. As abdominal ultrasound is a technically straightforward imaging technique which includes a sensitivity that rises about 90%, its utilization to identify rectus sheath hematoma can reduce the rate of CT imaging and time to diagnosis for this pathology.
Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability
Authors: Ruolin Li, Jiayi Yang, Jinfeng Ma, Aimei Zhang, Hongfang Li
Journal: Front Genet (2024)
Keywords: amino acid substitution, case report, epilepsy, exome sequencing, intellectual disability, tremor, undecaprenyl pyrophosphate synthetase, young adult
MeSH terms: Case Reports

Introduction:
Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson's disease, dystonia, and congenital disorders of glycosylation. Additionally, cases describing genotypes and clinical features are rare.
Case presentation:
Herein, we report the case of a 23-year-old Chinese female patient who presented with tremors, intellectual disability, and epilepsy. A history of carbon monoxide exposure, brain trauma, or encephalitis was not present in this case. Trio whole-exome sequencing analysis revealed a de novo pathogenic variant of c.750del in exon 4, leading to p.Leu251* amino acid substitution. Genetic analysis failed to identify the identical mutations in the remaining family members who underwent screening. The patient was diagnosed with a rare congenital disease, "congenital glycosylation disorder, type 1aa, autosomal dominant, type 55, with seizures (MRD-55)."
Conclusion:
We provide further evidence for the role of variants in NUS1 in the development of tremors, epilepsy, and intellectual disabilities. These findings expand our understanding of the clinical phenotypes of NUS1 variants.
Refractory hypertension complicated with Turner syndrome: A case report
Authors: Sisi Hu, Jichun Liu, Haixia Tang, Xiangrong Xie, Youquan Wei
Journal: Open Life Sci (2024)
Keywords: turner syndrome, hypertension, sex chromosome disorder
MeSH terms: Case Reports

Hypertension is commonly classified into essential hypertension and secondary hypertension, although definitive classification can be challenging in some cases. Here, we discussed a patient who admitted for refractory hypertension, exhibiting various clinical manifestations including inadequate estrogen secretion, underdeveloped secondary sexual characteristics, primary amenorrhea, short stature, multiple moles, and somatic abnormalities. The patient was finally diagnosed with Turner syndrome (TS) based on clinical findings and chromosomal analysis. The genetic karyotype identified was 46,X,i(X)(q10).
A case report and literature review on tocilizumab-cured acute necrotizing encephalopathy caused by influenza A virus
Authors: YuKun Huang, Bin Zhou, ShaoXian Hong, YaLi Cai
Journal: Front Pediatr (2024)
Keywords: tolizumab, acute necrotizing encephalopathy, children, cytokine storm, influenza a virus, interleukin-6, prognosis
MeSH terms: Case Reports

Introduction:
Acute Necrotizing Encephalopathy (ANE), is a kind of severe Central Nervous System Disease. The commonest pathogen is the influenza virus. The pathogenesis of ANE is bound up to genetic susceptibility and cytokine storm. Interleukin-6 (IL-6) is deemed as the core function in cytokine storm of ANE and that plays a significant role in evaluating the severity of Influenza-Related ANE. Tocilizumab, an IL-6 antagonist, is known to be safe and effective in the treatment of ANE when used early and has an essential role in improving prognosis and preventing disability.
Case report:
This case reports a 2 year 10 month old boy who developed ANE after being infected with influenza A virus (H1N1-2019). After treatment with Tocilizumab, the child's consciousness was clear, no convulsions occurred, the movement of limbs was improved, and the lesions of encephalopathy were significantly reduced.
Conclusion:
The early use of Tocilizumab is safe and effective for the treatment of ANE caused by influenza virus.
Solitary fibrous tumor of the adrenal gland: a case report and review of the literature
Authors: Changjie Shi, Xiuquan Shi, Ding Wu, Ying Zhang, Dian Fu, Xiaofeng Xu, Wen Cheng
Journal: Front Surg (2024)
Keywords: adrenal tumor, adrenalectomy, computed tomography, diagnosis, solitary fibrous tumor
MeSH terms: Case Reports

Solitary fibrous tumor (SFT) is a rare mesenchymal tumor, probably of fibroblastic origin, mainly in the extremities and pleura. Primary SFT of the adrenal gland is clinically more rare. Here, we report the case of a 47-year-old woman who detected a left adrenal mass on physical examination, without any symptoms, and no laboratory abnormalities. A computed tomography (CT) examination of the adrenal gland suggested a round-like soft tissue density shadow in the left adrenal area. An unenhanced scan showed uneven density of the mass, with a scattered circular-like cystic low-density shadow inside, and an enhanced scan showed obvious uneven enhancement. We considered it to be adrenal pheochromocytoma. Ultimately, the patient was treated with laparoscopic left adrenalectomy. A pathological examination suggested an adrenal SFT. We reviewed previous case reports of adrenal SFTs and summarized the clinical characteristics of adrenal SFT combined with the relevant literature. For adrenal tumors with uneven low-density shadow and uneven CT enhancement features, we should consider the differential diagnosis of adrenal SFT.
Case Report: Intravesical and extravesical urachal cyst in children with lower abdominal pain and hematuria
Authors: Kaiyi Mao, Leibo Wang, Yuchen Mao, Xianhui Shang, Guangxu Zhou, Peng Zhao
Journal: Front Pediatr (2024)
Keywords: case report, children, hematuria, intravesical urachal cyst, urachal cyst
MeSH terms: Case Reports

Bladder urachal cysts in children are a rare form of urachal abnormality. In this paper, we present a case of atypical imaging that presented with lower abdominal pain accompanied by hematuria, resulting in the formation of both internal and external urachal cysts in a child. A 6-year-old male child presented with repeated abdominal pain over a span of 4 days. Color ultrasound and pelvic CT scans revealed a soft tissue lesion on the right anterior wall of the bladder with an unclear boundary from the bladder wall. Voiding Cystourethrography (VCUG) showed no significant abnormalities in the bladder, while routine urine testing was positive for hematuria. A cystoscopy was simultaneously performed with a laparoscopic resection of the urachal cyst. Intraoperative cystoscopy identified the intravesical lesion, which was precisely removed using a cystoscope-assisted laparoscopy. Postoperative pathology confirmed that both extravesical and intravesical lesions were consistent with a urachal cyst. No complications were observed after the operation, and no recurrence was noted during a six-month follow-up. Therefore, for urachal cysts at the bladder's end, the possibility of intravesical urachal cysts should not be excluded, especially in patients with microscopic hematuria. We recommend performing cystoscopy simultaneously with laparoscopic urachal cyst removal to avoid missing intravesical lesions.
Paediatric Laryngeal Synovial Sarcoma: Dilemmas and Decision-Making
Authors: Gregory Shein, Alison J Potter, Christine Loo, Robert Smee, Ian Jacobson, Antoinette Anazodo
Journal: Case Rep Otolaryngol (2024)
MeSH terms: Case Reports

Primary laryngeal synovial sarcoma is a rare head and neck cancer. We describe a case of synovial sarcoma of the larynx in a previously well 9-year-old boy with a one-month history of a progressively enlarging neck lump. He was referred to our institution after incomplete surgical excision of the then undifferentiated neck mass. A partial laryngectomy including wide local excision of the residual mass was performed. An ipsilateral level I-III neck dissection was also performed concurrently. Clear re-excision margins were achieved. The neck nodes were all negative for metastatic disease. Adjuvant local radiotherapy treatment was administered to reduce the probability of local recurrence. Four years following treatment completion, the patient remains in remission with no signs of treatment-related morbidity. A review of the published literature on laryngeal synovial sarcoma was undertaken. This case represents the youngest patient to be diagnosed with the condition. Surgical excision represents the mainstay of treatment of laryngeal synovial sarcoma. At more common sites of disease, adjuvant radiotherapy has been associated with lower rates of recurrence. However, there is the potential for significant morbidity from irradiating the neck of a paediatric patient. This case report explores the challenges in treating young patients with aggressive head and neck cancers when faced with little available evidence to guide decision-making.
Case report: Giant lymph node metastases: a new opportunity for cancer radioimmunotherapy?
Authors: Yuan Bian, Zhenhua Zhang, Xiangyu Deng, Qinglian Wen, Dan Li
Journal: Front Immunol (2024)
Keywords: case report, cervical cancer, immunotherapy, lymph node metastasis, radiotherapy
MeSH terms: Uterine Cervical Neoplasms / pathology, Uterine Cervical Neoplasms / therapy, Case Reports, Chemoradiotherapy, Combined Modality Therapy, Female, Humans, Lymphatic Metastasis / radiotherapy, Radioimmunotherapy

Background:
Despite the significant progress made in radiotherapy and chemotherapy for the treatment of cervical cancer, patients with lymph node metastasis still have a poor prognosis. It is widely accepted that lymph node metastasis plays a crucial role in the spread of cancer to other organs and is considered an independent factor in predicting a poor prognosis. However, recent research suggests that the importance of lymph nodes in tumor therapy needs to be reevaluated, as preserving the integrity of lymph nodes before immunotherapy can enhance treatment effectiveness.
Case presentation:
In this report, we present two cases of advanced cervical cancer patients with giant metastatic lymph node lesions in the neck. These patients were effectively treated with a combination of local radiotherapy and immunotherapy after conventional chemoradiotherapy had failed. The combination therapy resulted in significant clinical improvements, with patient 1 achieving over 12 months of progression-free survival (PFS) and patient 2 maintaining sustained remission for an impressive 24 months.
Conclusions:
The combination of local radiotherapy and immunotherapy shows promise as a viable treatment option for cervical cancer patients with distant lymph node metastasis, and the giant lymph node metastases may play an important role in this process, which might provide a new opportunity for cancer radioimmunotherapy.
Testicular Torsion in the Undescended Testis of a Four-Year-Old: A Delayed Diagnosis
Authors: Leena K Alshaibani, Sara K Alshaibani
Journal: Cureus (2024)
Keywords: color doppler ultrasonography, cryptorchidism, infarcted testicle, inguino-scrotal swelling, pediatrics, poor assessment / misdiagnosis, testicular torsion, undescended testicle
MeSH terms: Case Reports

In this report, we discuss the case of a four-year-old boy known to have global developmental delay (GDD) and infantile spasm. The child was brought to the emergency department (ER) with a tender inguinal swelling and fever. Notably, there was no previous indication of an undescended testicle (UDT), and the scrotum was not examined in the ER initially. The abdominal radiograph was unremarkable, and an ultrasound of the groin was requested to investigate the nature of the swelling. The ultrasound yielded a differential diagnosis of direct or indirect inguinal hernia containing intestinal loops or a necrotic lymph node. Ultimately, scrotal examination and repeated imaging confirmed the diagnosis of bilateral UDT with torsion and suspected infarction on the right side. Both UDT and testicular torsion (TT) are prevalent genitourinary disorders. However, the occurrence of torsion in an undescended testis is not commonly observed or documented, particularly within the age group presented in our case. TT is a surgical emergency, and its prognosis relies on early recognition and management in order to salvage the testis. In this case, there was a missed examination opportunity; therefore, it is imperative for emergency physicians to routinely include scrotal examination as part of the physical assessment when evaluating children with abdominal or groin pain in order to promptly identify such cases.
Case report: Overlap syndrome of neuromyelitis optica spectrum disorder with anti-Argonaute antibodies
Authors: Pei Liu, Xuemei Lin, Songdi Wu
Journal: Front Immunol (2024)
Keywords: brainstem encephalitis, aquaporin-4 antibody, argonaute antibody, longitudinally extensive myelitis, neuromyelitis optica spectrum disorder
MeSH terms: Autoantibodies / blood, Autoantibodies / immunology, Neuromyelitis Optica / diagnosis, Neuromyelitis Optica / drug therapy, Neuromyelitis Optica / immunology, Case Reports, Adult, Aquaporin 4 / immunology, Biomarkers, Female, Humans, Immunosuppressive Agents / therapeutic use, Magnetic Resonance Imaging, Middle Aged, Autoantibodies, Aquaporin 4, Biomarkers, Immunosuppressive Agents, AQP4 protein, human

Aquaporin-4 antibodies (AQP4-Abs) are a diagnostic marker for patients with a demyelinating disease called neuromyelitis optica spectrum disorder (NMOSD). Anti-Argonaute antibodies (AGO-Abs) present as potential biomarkers of the overlap syndrome between NMOSD and other autoimmune diseases. In this paper, we present the case of an adult woman with numbness, tingling, and burning sensations in her arms and subsequent bilateral internuclear ophthalmoplegia. Brain-cervical-thoracic magnetic resonance imaging (MRI) showed T2 hyperintensities in the dorsal brainstem and around the midbrain aqueduct and longitudinally transverse myelitis with homogeneous enhancement on gadolinium-enhanced MRI. The contemporaneous detection of AQP4- and AGO-Abs led to a definite diagnosis of overlap syndrome of NMOSD with AGO-Abs. The patient was treated with immunosuppressive agents, including corticosteroids and immunoglobulins, and achieved remission. This case highlights a novel phenotype of NMOSD with AGO-Abs overlap syndrome, which presents with relapsing brainstem syndrome and longitudinally extensive myelitis with acute severe neurological involvement. The promising prognosis of the disease could serve as a distinct clinical profile. Broad screening for antibodies against central nervous system autoimmune antigens is recommended in suspected patients with limited or atypical clinical manifestations.
Case report: EBV-positive epithelioid follicular dendritic cell sarcoma with CD30 expression: a highly challenging diagnosis
Authors: Ying Chen, Xin He, Xingyan Zhu, Yujuan Xu, Deyu Guo
Journal: Front Oncol (2024)
Keywords: cd30, epstein-barr virus, differential diagnosis, epithelioid, follicular dendritic cell sarcoma
MeSH terms: Case Reports

Introduction:
Follicular dendritic cell sarcoma (FDCS) is a rare tumor entity with a wide range of anatomical sites and strong heterogeneity in morphology and immunohistochemistry, making it highly susceptible to misdiagnosis. There are two types of FDCS: conventional FDCS and EBV+ inflammatory FDCS. It is currently suggested that the former has nothing to do with EBV infection. Moreover, they have distinctively different clinicopathological characteristics.
Case description:
A 69-year-old male patient was admitted to our hospital after 4 months of progressive enlargement of the neck mass. Positron emission tomography/computed tomography (PET/CT) examination showed multiple enlarged lymph nodes in the body. After cervical lymph node excision and biopsy, it was found that the tumor cells were epithelioid and diffusely expressed EBER and CD30. It was initially diagnosed as poorly differentiated cancer and lymphoma. In subsequent differential diagnosis, we found that it strongly stained CD21 and CD23, which was approved the diagnosis of EBV+ FDCS.
Conclusion:
Epithelioid FDCS is very rare. EBV-positive FDCS with abnormal expression of CD30 has not been reported. Whether EBV also plays an important role in conventional FDCS requires more cases to be verified. Our case provides valuable research clues for further understanding the pathological characteristics of this tumor entity.
Arthritis or an Adjacent Fascial Response? A Case Report of Combined Pyomyositis and Aseptic Arthritis
Authors: Noa Martonovich, Sharon Reisfeld, Yaniv Yonai, Eyal Behrbalk
Journal: Case Rep Rheumatol (2024)
MeSH terms: Case Reports

Pyomyositis, accompanied by aseptic arthritis, has been previously documented in several publications. However, none of the authors in the mentioned case reports offered a pathophysiological explanation for this unusual phenomenon or proposed a treatment protocol. We present a case of a healthy, 70-year-old male who was presented to the emergency department 4 days after tripping over a pile of wooden planks and getting stabbed by a nail to his thigh. The right thigh was swollen. Unproportional pain was produced by a light touch to the thigh. A laboratory test and a CT scan were obtained. The working diagnosis was pyomyositis of the thigh and septic arthritis of the ipsilateral knee. The patient underwent urgent debridement and irrigation of his right thigh. An arthroscopic knee lavage was performed as well. Intraoperative cultures from the thigh revealed the growth of Streptococcus pyogenes and Staphylococcus aureus. Cultures from synovial fluid were sterile; thus, septic arthritis was very unlikely. The source of the knee effusion might have been an aseptic inflammatory response due to the proximity of the thigh infection. Anatomically, the quadriceps muscle inserts on the patella, and its tendon fuses with the knee capsule, creating a direct fascial track from the thigh to the knee. The inflammatory response surrounding the infection may have followed this track, creating a domino effect, affecting adjacent capillaries within the joint capsule, and causing plasma leakage into the synovial space, leading to joint effusion. Our suggested treatment is addressing the primary infection with antibiotics and considering adding anti-inflammatory therapy, given our suspicion that this process has an inflammatory component.
Metastatic Melanoma to the Urinary Bladder: A Rare Cause of Visible Haematuria
Authors: Olawale Ogunremi, Dinelle Sirjuesingh, Aniket Deshpande
Journal: Case Rep Urol (2024)
MeSH terms: Case Reports

Bladder metastasis from cutaneous melanoma is a rare pathology. A 79-year-old woman presented to the haematuria clinic on account of painless visible haematuria. Ten years prior to this index presentation, she was diagnosed with melanoma on her right thigh following a total excision of the skin lesion. Cystoscopy showed a pigmented bladder tumour, and the histology report following a transurethral resection was consistent with metastatic melanoma, and further imaging revealed metastasis to the lungs, adrenals, and lymph nodes.