OpenMed/multicare-articles huggingface dataset:
Primary omentum extraskeletal osteosarcoma in a dog: case report
Authors: Caroline Tessmer Elias Soares, Fernanda Peres Medeiros, Raul Martins
Journal: Braz J Vet Med (2023)
Keywords: dog, extraskeletal osteosarcoma, ultrasound
MeSH terms: Case Reports

A rescued male mixed-breed dog, approximately nine years old, was evaluated due to progressive weight loss and an enlarged abdomen. An ultrasound revealed a large, indeterminate mass with mineral-like margins visible on the radiographs. The animal underwent an exploratory laparotomy, and the mass was excised. Histopathological analysis revealed characteristics consistent with a primary omentum extraskeletal osteosarcoma. This rare neoplasm, originating from mesenchymal cell proliferation and bone matrix production, is highly malignant. It often results in death due to metastasis and local recurrence or necessitates euthanasia post-diagnosis in certain cases.
Treatment for a primary multidrug-resistant B-cell acute lymphoblastic leukemia patient carrying a SSBP2-CSF1R fusion gene: a case report
Authors: Huan Wang, Yujiao Wang, Liangchun Hao, Xuan Liu, Jihong Zhang, Pin Yao, Danping Liu, Runan Wang
Journal: Front Oncol (2023)
Keywords: mrd, philadelphia chromosome-like acute lymphoblastic leukemia, ssbp2-csf1r fusion, children, multidrug resistance
MeSH terms: Case Reports

SSBP2-CSF1R is an important biomarker for clinical diagnosis and prognosis of Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL). This case report presents a pediatric Ph-like ALL patient carrying the SSBP2-CSF1R fusion gene. The patient was resistant to most conventional chemotherapy regimens and to dasatinib, an inhibitor that has been reported to have a therapeutic effect on SSBP2-CSF1R fusion Ph-like ALL, as she remained minimal residual disease (MRD) positive (detection by flow cytometry) and SSBP2-CSF1R fusion gene (detection by RT-PCR) positive after five rounds of such regimens. We thus conducted a large-scale in vitro screening to assess the sensitivity of the patient's leukemic cells to anti-cancer drugs. Based on the susceptibility results, we chose to combine cytarabine, homoharringtonine, dexamethasone, fludarabine, vindesine, and epirubicin for treatment. Clinical results showed that after a course of treatment, both MRD and SSBP2-CSF1R fusion gene turned negative, and there was no recurrence during an 18-month follow-up. In conclusion, our study suggests that the SSBP2-CSF1R fusion gene may be an important biomarker of primary drug resistance in Ph-like ALL, and indicate that the combination of cytarabine, homoharringtonine, dexamethasone, fludarabine, vindesine, and epirubicin can achieve optimal therapeutic results in this category of patients.
Case report: Rapidly progressive neurocognitive disorder with a fatal outcome in a patient with PU.1 mutated agammaglobulinemia
Authors: Rada Miskovic, Jelena Ljubicic, Branka Bonaci-Nikolic, Ana Petkovic, Vladana Markovic, Ivan Rankovic, Jelena Djordjevic, Ana Stankovic, Kristel Klaassen, Sonja Pavlovic, Maja Stojanovic
Journal: Front Immunol (2024)
Keywords: alzheimer’s disease, pu1, spi1, agammaglobulinemia, exome sequencing, neurocognitive disorders
MeSH terms: Agammaglobulinemia / complications, Agammaglobulinemia / diagnosis, Agammaglobulinemia / genetics, Alzheimer Disease / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Female, Humans, Oncogenes, Positron Emission Tomography Computed Tomography

Introduction:
PU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene. This gene codes for PU.1 pioneer transcription factor important for the maturation of monocytes, B lymphocytes, and conventional dendritic cells. Only six cases with PU.MA, presenting with chronic sinopulmonary and systemic enteroviral infections, have been previously described. Accumulating literature evidence suggests a possible relationship between SPI1 mutation, microglial phagocytic dysfunction, and the development of Alzheimer's disease (AD).
Case description:
We present a Caucasian female patient born from a non-consanguineous marriage, who was diagnosed with agammaglobulinemia at the age of 15 years when the immunoglobulin replacement therapy was started. During the following seventeen years, she was treated for recurrent respiratory and intestinal infections. At the age of 33 years, the diagnosis of celiac-like disease was established. Five years later progressive cognitive deterioration, unstable gait, speech disturbances, and behavioral changes developed. Comprehensive microbiological investigations were negative, excluding possible infective etiology. Brain MRI, 18FDG-PET-CT, and neuropsychological testing were suggestive for a diagnosis of a frontal variant of AD. Clinical exome sequencing revealed the presence of a novel frameshift heterozygous variant c.441dup in exon 4 of the SPI1 gene. Despite intensive therapy, the patient passed away a few months after the onset of the first neurological symptoms.
Conclusion:
We describe the first case of PU.MA patient presenting with a rapidly progressive neurocognitive deterioration. The possible role of microglial dysfunction in patients with SPI1 mutation could explain their susceptibility to neurodegenerative diseases thus highlighting the importance of genetic testing in patients with inborn errors of immunity. Since PU.MA represents a newly described form of agammaglobulinemia, our case expands the spectrum of manifestations associated with SPI1 mutation.
Case report: Rapidly progressive desmoid tumor after surgery for esophagogastric junction cancer and slowly progressive primary desmoid tumor: a report of two cases and literature review
Authors: Chuan-Ying Li, Yan-Peng Gao, Ming-Hao Jia, Yuan Zhou, Jia-You Xu
Journal: Front Oncol (2024)
Keywords: case report, desmoid tumor, mesentery, soft tissue tumors, surgical treatment
MeSH terms: Case Reports

Background:
Desmoid tumor (DT) is a rare locally aggressive but non-metastatic mesenchymal soft tissue neoplasm that predominantly occurs in the abdominal wall, abdominal cavity, and extremities. Its occurrence in the mesentery is relatively uncommon.
Case reports:
This article reports two cases of desmoid tumor treated at the Department of Gastrointestinal Surgery, Weifang People's Hospital. The first case was a 59-year-old male patient who had previously undergone surgery for esophagogastric junction cancer. Postoperatively, he developed an intra-abdominal mass that rapidly increased in size within three months. The second case was a 60-year-old male patient who incidentally discovered a mass in the left lower abdomen. Both patients underwent surgical treatment, and the postoperative pathological diagnosis was mesenteric desmoid tumor.
Conclusion:
The treatment of desmoid tumor remains challenging. Simple surgical resection often yields unsatisfactory outcomes, and the efficacy of adjuvant radiotherapy and chemotherapy is also limited. Further research and clinical practice are necessary to improve diagnostic and therapeutic strategies, aiming to enhance patient survival and quality of life.
Case Report: A new variant of the forehead flap for subtotal nose reconstruction in a single stage: the dragonfly flap
Authors: Tito Brambullo, Arianna Franchi, Giuseppe Masciopinto, Alberto De Lazzari, Vincenzo Vindigni, Franco Bassetto
Journal: Front Surg (2024)
Keywords: forehead flap, nasal reconstruction, rhinoplasty, skin cancer, surgical technique
MeSH terms: Case Reports

Background:
The forehead flap is probably the most used method for nose reconstruction after cancer resection. During the past century, this technique has been continuously refined to achieve better functional and aesthetic outcomes. Different variations have been described, with the original technique being modified based on tissue loss, the layer to be replaced, and the management of the donor area.
Methods:
We propose a new and innovative version of the forehead flap in which both the forehead skin and the frontal muscle are harvested simultaneously using the same vascular pedicle. Partially separating the two layers allows muscle tissue to replace the inner layer and cover the nasal septum framework, while the skin will replace the outer layer. The nostrils are reconstructed simultaneously using bilateral hinge-over lining skin flaps harvested from the nasal folds.
Results:
Step by step, a schematic illustration of the technique is given, followed by a complete report on a successful total nose reconstruction case.
Conclusions:
Despite the increasing number of techniques which have been introduced to achieve full reconstruction of the nose, including microsurgical tissue transfer, the simultaneous replacement of both the inner and outer layers continues to be an issue for the plastic surgeon. In this article, we suggest a solution for total nose reconstruction in a single-stage procedure.
Putative Mechanism of Action of Trazodone-Related Oromandibular Dyskinesia
Authors: Alan L Schneider
Journal: Case Rep Psychiatry (2024)
MeSH terms: Case Reports

This is a case report of three cases of trazodone-induced buccal-lingual dyskinesias. Each case demonstrated the distinct pattern of the development of this dyskinesia after trazodone exposure for several months. All cases showed abrupt cessation of the movement disorder when the drug was discontinued. One of the three cases demonstrated a highly unusual presentation of an on/off pattern of buccal dyskinesia directly related to repetitive exposure and termination of the drug trazodone. Two of the three cases had no prior exposure to any dopamine blocking agents. One of the three had a distant exposure to a dopamine antagonist. As opposed to other antidepressants, trazodone has a mechanism of action which can account for both the development and treatment of dyskinetic movements. Its metabolite, M/chlorophenylpiperazine (M-CPP) is a 5HT2C agonist capable of causing abnormal oral-facial movements in rodent models. The presence of oromandibular dyskinetic movements can occur spontaneously with age, with trazodone being a potential predisposing factor. This article will discuss proposed mechanisms for trazodone's action with an emphasis on case reports of dystonic movements.
Case report: A case study of neoadjuvant immunochemotherapy for locally advanced esophageal squamous carcinoma
Authors: Xiong Liu, Maoqi Wang, Deyuan Meng, Yuntao Tang, Qingtong Shi
Journal: Front Oncol (2024)
Keywords: chemotherapy, esophageal cancer, immunotherapy, neoadjuvant therapy, surgery
MeSH terms: Case Reports

In locally advanced esophageal cancer, the controversy over the two traditional treatment modalities, neoadjuvant radiotherapy and neoadjuvant chemotherapy, has been unending and also challenged by the addition of neoadjuvant immunotherapy. Neoadjuvant immunotherapy has led to an increasing diversity of neoadjuvant combination treatment modalities, among which neoadjuvant immunochemotherapy has emerged, with current clinical studies initially demonstrating its efficacy and safety. We report a case of a patient with locally advanced esophageal cancer who underwent two cycles of neoadjuvant immunochemotherapy and successful surgery and achieved a pathological complete response (pCR). A 73-year-old elderly female patient presented with progressive dysphagia for more than 1 month with an Eastern Cooperative Oncology Group (ECOG) score of 1. After completing gastroscopy + pathological biopsy, chest enhanced CT, barium esophageal meal, PET-CT, and other related examinations, the clinical diagnosis was thoracic segmental esophageal poorly differentiated squamous carcinoma cT2N2M0 stage III. After a multidisciplinary discussion of the comprehensive treatment plan, two cycles of neoadjuvant therapy were given on February 16, 2023, and March 9, 2023, and the treatment plan was as follows: cisplatin 30 mg d1-3 + albumin paclitaxel 200 mg d1 and 100 mg d8 + sintilimab 200 mg d4, q3w. After the neoadjuvant therapy, the patient underwent an imaging examination. The chest enhanced CT suggested that the lesion range was significantly reduced compared with the previous scan, and mediastinal lymph nodes were partially reduced. Then, thoracoscopic radical esophageal cancer surgery was performed on April 23, 2023. pCR was achieved by pathological evaluation, and the postoperative diagnosis was thoracic segmental esophageal hypofractionated squamous carcinoma ypT0N0M0. Two cycles of adjuvant immunochemotherapy were performed after surgery on May 30, 2023, and June 21, 2023, and the regimen was as follows: cisplatin 30 mg d1-3 + albumin paclitaxel 200 mg d1 and 100 mg d8 + sindilizumab 200 mg d4, q3w. As of the latest review on March 20, 2024, the patient was not seen to have any significant postoperative complications and remains in a state of complete response (CR). Neoadjuvant immunochemotherapy has positive significance for the treatment of patients with locally advanced esophageal cancer. Whether neoadjuvant immunochemotherapy can replace neoadjuvant synchronous radiotherapy is a future direction of research, which needs to be further verified by more reliable clinical trials.
A rare case of Richter transformation with breast involvement: A case report and literature review
Authors: Wenhui Wang, Hao Chen, Wendong Ju, Weihong Yang, Gaoming Ding, Li Wang
Journal: Open Life Sci (2024)
Keywords: richter transformation, breast tumor, chronic lymphocytic leukemia, small lymphocytic lymphoma, zanubrutinib
MeSH terms: Case Reports

Richter transformation (RT) represents the development of intrusive lymphoma in individuals previously or concurrently diagnosed with chronic lymphocytic leukemia (CLL) and is characterized by lymph node enlargement. However, cases involving extra-nodal organ involvement as the first symptom are rare. There are no reports of RT with breast lesions as the first symptom. Nonspecific and atypical clinical manifestations represent key challenges in the accurate diagnosis and appropriate treatment of RT. This case report describes an elderly female patient who presented with breast lesions as the first RT symptom. The patient was admitted with a painless mass in the left breast. Examination revealed multiple lymphadenopathies and abnormally high white blood cell levels. The patient was diagnosed with CLL after hematological tests, assessments of bone marrow morphology, and tissue biopsy. Mammography and B-ultrasonography showed solid space-occupying lesions (BI-RADS category 5) in the left breast. Initially, the patient declined a breast biopsy and was therefore prescribed ibrupotinib treatment, which showed limited efficacy. A needle biopsy of the affected breast indicated the presence of diffuse large B-cell lymphoma. Based on auxiliary and pathological examinations and medical history, the final diagnosis was RT with breast involvement. Zanubrutinib with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone treatment provided initial control; however, the treatment strategy required adjustment because of the patient's fluctuating condition. The current status of the patient is marked as stable, showing an overall achievement of partial alleviation. The patient is in the process of receiving follow-up treatment. We also performed a comprehensive literature review on RT, with particular emphasis on its biological paradigm, prognosis implications, existing therapeutic approaches, and emerging directions in treatment modalities.
Case report and literature analysis: solitary HCC- recurrence in the right maxillary sinus after curative resection
Authors: Tinotenda Blessing Madzikatire, Yunfeng Shan
Journal: Front Oncol (2024)
Keywords: hepatocellular carcinoma, maxillary sinus mass, metastasis, recurrence, solitary
MeSH terms: Case Reports

Background:
The primary treatment for eligible patients with hepatocellular carcinoma (HCC) is curative liver resection, offering a 5-year overall survival (OS) of 60%-80%. Despite this, the recurrence rate within five years post-resection remains notably high, ranging from 40% to 50%. Instances of recurrence in the maxillary sinus following liver resection are exceedingly uncommon. This report details a unique case of solitary maxillary sinus recurrence after the curative resection of HCC, which underwent maxillary tumor resection, along with a comprehensive review of pertinent literature. No similar cases have been documented previously.
Case presentation:
In 2014, an 85-year-old male patient was diagnosed with HCC and subsequently underwent left hepatectomy. Following the resection, the patient underwent a 9-year follow-up period without any evidence of intra or extrahepatic recurrence. In 2023, a computed tomography (CT) scan revealed a 1.4 cm by 1.1 cm mass in the maxillary sinus, without discernible invasion of the alveolar sinus, nasal cavity, orbital cavity, or infratemporal space. We proceeded with the resection of the maxillary sinus mass. Patho-histochemical analysis indicated that the tumor cells in the maxillary sinus were metastatic HCC cells. As of now, the patient remains in good condition with no signs of tumor recurrence.
Conclusion:
For patients presenting with solitary maxillary sinus metastasis, optimal liver function, and a favorable performance score, tumor resection may be the preferred treatment option. However, given the rarity of such cases, larger prospective trials are essential to determine an optimal treatment strategy that offers therapeutic benefits.
Recurrent Spontaneous Pneumothorax Secondary to Marijuana and Tobacco Abuse
Authors: Naisargee N Solanki, Charlotte A Thill, Mahmoud Chaker, Angelo A Messina Alvarez, Nouraldeen Manasrah, Ahmed Jamal Chaudhary
Journal: Cureus (2024)
Keywords: marijuana abuse, marijuana and pneumothorax, primary spontaneous pneumothorax, recurrent pneumothorax, smoking and pneumothorax, smoking and postoperative outcomes, tension pneumothorax, tobacco and marijuana use, video-assisted thoracoscopic surgery (vats)
MeSH terms: Case Reports

Primary spontaneous pneumothorax occurs in patients without apparent clinical lung disease, with a higher incidence in tall, thin males between the ages of 10 and 30. Tension pneumothorax is a life-threatening condition that can develop within minutes due to progressive air accumulation in the pleural space; mechanical pressure can lead to significant cardiorespiratory compromise. Tobacco association with a higher incidence of spontaneous pneumothorax has been well documented, but marijuana and spontaneous pneumothorax connection has not been well studied. However, it has been observed that patients who use marijuana and tobacco simultaneously have a higher incidence of spontaneous tension and larger pneumothoraces, as well as longer postoperative stay and higher recurrence than cigarette-only users. We present a case of a 26-year-old young male with a history only significant for excessive tobacco and marijuana smoking who developed multiple recurrent spontaneous pneumothorax and had to undergo right-sided video-assisted thoracoscopic surgery (VATS) with minimally invasive thoracotomy and had a prolonged hospital stay. With our case report, we hope to add to the evidence the effects of combined marijuana and tobacco smoking on bullous lung disease and pneumothorax while emphasizing the importance of conducting a detailed substance use history in patients with spontaneous pneumothorax.
A case of metastatic lymphoepithelial carcinoma of parotid gland identified on 68gallium DOTA-[Tyr3] octreotate PET CT
Authors: Han Chung Low, Kelvin Siu Hoong Loke, Fu Qiang Wang, Shuting Han, Amit Jain, Joe Yeong, Wen Long Nei
Journal: BJR Case Rep (2023)
Keywords: ebv, ga-68 dotatate pet ct, lymphoepithelial carcinoma, somatostatin receptor
MeSH terms: Case Reports

The authors present the case of a 59-year-old lady diagnosed with lymphoepithelial carcinoma (LEC) of the left parotid gland. The primary tumour was identified using contrast-enhanced CT, and diagnosis was confirmed via fine needle aspiration cytology and immunohistochemistry. Staging using fluorine-18 fluorodeoxyglucose PET CT revealed regional nodal metastases, while no distant metastasis was evident. Following radical radiotherapy, a favourable locoregional response was observed on MRI, yet the patient's plasma Epstein-Barr virus load continued to rise. Given her primary tumour's somatostatin receptor type 2 (SSTR2) positivity, gallium-68 DOTA-[Tyr3] octreotate PET CT (68Ga-DOTATATE PET CT) was performed, revealing multiple distant metastases with DOTATATE avidity. Despite attempts at palliative chemotherapy and immunotherapy, disease progression led to the decision for the best supportive care. The unique presentation of metastatic LEC on 68Ga-DOTATATE PET CT suggests a potential role for SSTR2-targeted imaging in diagnosis and management.
Rare case report: a case of histological type transformation of lung cancer caused by neoadjuvant immunotherapy
Authors: Quanqing Li, Guangxin Zhang, Hao Yang, Jindong Li
Journal: Front Oncol (2024)
Keywords: drug resistance, histological type transformation, neoadjuvant immunotherapy, small cell lung cancer, squamous cell lung carcinoma
MeSH terms: Case Reports

Lung cancer remains the leading cause of cancer-related mortality, with 1.8 million deaths per year. Small cell lung cancer and non-small cell lung cancer (NSCLC) are the main cancer types. Approximately 85% of cases are NSCLC, including adenocarcinoma, squamous cell carcinoma, and large cell carcinoma. In this reported treatment case, the tumor histological type changed after targeted therapy, which has not been previously well documented. The patient was a 67-year-old woman diagnosed with squamous cell carcinoma via bronchoscopy. She received five neoadjuvant immune monotherapies. The lesion shrank but then progressed, with a diagnosis of small cell carcinoma via bronchoscopy. This finding suggests that tumor acquisition of resistance as manifested by cancer-type changes needs consideration and study in the application of this particular type of immunotherapy.
Treating seronegative neuromyelitis optica spectrum disorder with inebilizumab: a case report
Authors: Dominik Lehrieder, Nikolaos Zapantis, Mirko Pham, Michael Klaus Schuhmann, Axel Haarmann
Journal: Front Neurol (2023)
Keywords: aqp4, cd19, nmosd, case report, inebilizumab, longitudinally extensive transverse myelitis, optic neuritis, seronegative
MeSH terms: Case Reports

Background:
Neuromyelitis optica spectrum disorder (NMOSD) is a devastating inflammatory disease of the central nervous system that is often severely disabling from the outset. The lack of pathognomonic aquaporin 4 (AQP4) antibodies in seronegative NMOSD not only hinders early diagnosis, but also limits therapeutic options, in contrast to AQP4 antibody-positive NMOSD, where the therapeutic landscape has recently evolved massively.
Case presentation:
We report a 56-year-old woman with bilateral optic neuritis and longitudinally extensive myelitis as the index events of a seronegative NMOSD, who was successfully treated with inebilizumab.
Conclusion:
Treatment with inebilizumab may be considered in aggressive seronegative NMOSD. Whether broader CD19-directed B cell depletion is more effective than treatment with rituximab remains elusive.