OpenMed/multicare-articles huggingface dataset:
Case Report: A complete pathologic response in pancreatic cancer with squamous cell differentiation
Authors: Christopher R Grant, Zhaohui L Arter, Tran Truc, Fa-Chyi Lee
Journal: Front Oncol (2023)
Keywords: case report, chemotherapy, complete pathologic response, pancreatic cancer, squamous cell carcinoma
MeSH terms: Case Reports

Primary pancreatic malignancies are mostly composed of the adenocarcinoma histological subtype. However, squamous cell carcinoma (SCC) accounts for approximately 0.5%-1% of all malignant pancreatic cancers. Because of the rarity of SCC of the pancreas, guideline-directed treatment is lacking, treatment response is difficult to access, and treatment options are poorly defined. Here, we report a case of a 65-year-old man diagnosed with pancreatic carcinoma with dominant squamous cell differentiation, who achieved complete pathologic response (CPR) after treatment with gemcitabine, cisplatin, and nab-paclitaxel every 14 days for six cycles and who continues to lead a high quality of life 7 months later. To our knowledge, this is the first case of CPR in a case of SCC of the pancreas. To highlight the ambiguity and the need for further studies, we also performed a narrative review analyzing recent cases and compared them to our case.
Case Report: MYH9-related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia
Authors: Kaori Niwa, Hidemi Toyoda, Atsushi Kohso, Yosuke Okumura, Shinji Kunishima, Masahiro Hirayama
Journal: Front Pediatr (2024)
Keywords: döhle-like body, myh9-related disease, chronic immune thrombocytopenia, macrothrombocytopenia, pala44pro mutation
MeSH terms: Case Reports

MYH9-related disease, a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies, may mimic immune thrombocytopenia in children unless suspected and carefully excluded. Here, we present a case involving a three-year-old girl with mild bleeding symptoms since infancy, previously diagnosed with chronic immune thrombocytopenia. The patient exhibited isolated thrombocytopenia and lacked any family history of thrombocytopenia, hearing impairment, or renal failure. Examination of peripheral blood smears via light microscopy revealed significant platelet macrocytosis with giant platelets and basophilic Döhle-like bodies in the neutrophils. Subsequent sequencing analysis of MYH9 gene identified a p.Ala44Pro mutation. Throughout a six-year follow-up period, the patient's condition remained stable. Our report underscores the significance of identifying leukocyte inclusion bodies in peripheral blood smears and considering MYH9-related diseases, even in instances of chronic macrothrombocytopenia devoid of familial history or non-hematological manifestations.
Immunotherapy-Induced Overlap Syndrome: Myositis, Myasthenia Gravis, and Myocarditis-A Case Series
Authors: Nikhil Aggarwal, Diletta Bianchini, Rosemeen Parkar, Jennifer Turner
Journal: Case Rep Med (2024)
MeSH terms: Case Reports

Immune checkpoint inhibitors (ICI) are monoclonal antibodies that target immune checkpoint inhibitory receptors. They have revolutionised cancer treatment but can be associated with a wide range of adverse side effects. Rarely, they can be associated with the triad of myositis, myasthenia gravis, and myocarditis or overlap syndrome. Prompt recognition and early intervention are needed to treat these potentially life-threatening conditions. We report a case series of patients with ICI-related overlap syndrome, including the first with avelumab, and discuss the current management guidelines.
Septic arthritis complicating Streptobacillus moniliformis rat bite fever: a case report and review of its pathophysiology and diagnosis
Authors: Emmanuelle Giraudon, Eva Larranaga Lapique, Silvio Wallemacq, Marie Dalborgo, Nicolas Yin, Maya Hites, Delphine Martiny
Journal: Front Med (Lausanne) (2024)
Keywords: streptobacillus moniliformis, asymmetric polyarthritis, discitis, microbiological diagnosis, rat bite fever, rodent zoonosis, septic arthritis, seronegative polyarthritis
MeSH terms: Case Reports

Rat bite fever is characterized by a clinical triad of symptoms, fever, rash and arthritis. It is transmitted by rodents and mainly due to infection by Streptobacillus moniliformis, a fastidious bacterium carried by Rattus norvegicus. This case report presents the case of a patient who developed septic arthritis and fever after a wild rat bite, with subsequent isolation of S. moniliformis from the joint fluid. Upon reviewing 45 other published case reports of S. moniliformis osteoarticular infections following contact with either a rat or its secretions, it was firstly observed that the rat bite fever clinical triad was incomplete in over half of the cases, mainly because rash was infrequently observed among adult patients. Secondly, the clinical presentation of rat bite fever is quite non-specific and rodent exposure is not mentioned by patients in a third of cases upon admission. Altogether, diagnosing rat bite fever is a significant clinical challenge suggesting that it might be significantly underdiagnosed. In addition to these clinical aspects, no evidence was found supporting immunological mechanisms, as suggested in some literature. Instead, when excluding five improperly performed cultures, S. moniliformis was cultured in 25 reported cases and identified twice by direct PCR sequencing amounting to a detection rate of 90% (n = 27/30) on joint fluids. Cultures should be performed in medium containing yeast extract, complete peptic digest of animal tissue and at least 5% blood. Knowing that S. moniliformis is very sensitive to many antibiotics thereby making the culture negative, direct 16S rRNA gene sequencing on joint fluid is an alternative method in the case of clinical and cytological evidence of osteoarticular infections with sterile culture of joint fluid.
Symptomatic creatine phosphokinase elevation in a Crohn's disease patient caused by upadacitinib
Authors: Anna Schuitema, Suzanne I Anjie, Agnies M van Eeghen, Sander W Tas, Mark Löwenberg
Journal: Clin Case Rep (2024)
Keywords: cpk elevation, crohn's disease, myopathy, upadacitinib
MeSH terms: Case Reports

We present a Crohn's disease patient receiving high dose upadacitinib treatment with elevated CPK levels and myopathy, and provide the reader with practical tips on stopping and restarting upadacitinib, emphasizing the need for adequate monitoring.
Daratumumab in the treatment of C3 glomerulopathy with monoclonal gammopathy: a case report and literature review
Authors: Pasquale Esposito, Daniela Picciotto, Francesca Costigliolo, Elisa Russo, Lucia Macciò, Giovanna Cenacchi, Antonia Cagnetta, Michele Cea, Roberto M Lemoli, Francesca Viazzi
Journal: Front Med (Lausanne) (2023)
Keywords: c3 glomerulopathy, mgrs, case report, daratumumab, kidney biopsy, monoclonal gammopathy
MeSH terms: Case Reports

Although rare, C3 glomerulopathy (C3G) is increasingly recognized thanks to the currently available diagnostic skills. C3G is not a single disease but a group of disorders with distinct pathogenesis and progression. Thus, an essential step for its management remains an in-depth characterization of the specific form and the identification of underlying conditions, which may also impact treatment choices as well. Among these entities, an emerging condition is the association of C3G with monoclonal gammopathy, which confers poor outcomes. Overall, diagnosis of C3G remains challenging, and determining the appropriate treatment remains unclear. Conventional immunosuppressive therapy has proven ineffective in such cases, while clone-directed therapies have shown promising results in small interventional studies and case series. Here, we report a case of a patient affected by C3G with monoclonal gammopathy of renal significance who experienced rapid deterioration of kidney function requiring replacement therapy. After the failure of first-line treatment, a switch to the anti-CD38 therapy with daratumumab resulted in the progressive improvement of the patient's kidney function, leading to the discontinuation of hemodialysis after approximately 10 months. Serial renal biopsies were also performed to study the disease's evolution in response to the treatment. Based on the description of this single case, we have comprehensively reviewed available studies on daratumumab use in patients with C3G associated with monoclonal gammopathy to provide insights for the design of prospective studies which aim to enhance the management of such poor prognosis disease.
Successful treatment of MAP2K1 mutant stage IV-M1d melanoma with trametinib plus low-dose dabrafenib: a case report
Authors: Iris Dirven, Evan Calliauw, Gil Awada, Manon Vounckx, Jolien I Kessels, Bart Neyns
Journal: Front Med (Lausanne) (2024)
Keywords: map2k1-mutation, mek-inhibitor, mek1-mutation, brain metastasis, case report, focal post-radiation necrosis, stage iv melanoma, trametinib
MeSH terms: Case Reports

Clonal MAPK-pathway activating mutations in the MAP2K1 (MEK1) gene are present in approximately 9% of cutaneous melanomas. These mutations are divided into three classes: RAF-dependent, RAF-regulated, RAF-independent. Cell lines with class-2 or RAF-regulated MAP2K1-mutations are most responsive to MEK-inhibitors. We present a patient with a class-2 MAP2K1-mutant stage IV-M1d melanoma who experienced extra- and intracranial progressive disease following treatment with immune-checkpoint inhibitors. The patient was treated with the MEK-inhibitor trametinib (2 mg OD) to which a low-dose of dabrafenib (50 mg BID) was added to mitigate skin-toxicity. Following documentation of a partial response (PR), she developed one new, and increase in volume of two pre-existing brain metastases that were treated with stereotactic radiosurgery (SRS) while continuing trametinib and dabrafenib. Thereafter, a deep partial radiologic and metabolic response both extra-and intra-cranially was achieved and is ongoing 88 weeks after initiating trametinib. She experienced no grade > 2 adverse events. Focal post-radiation necrosis at site of an irradiated brain metastasis developed 9 months after SRS and is successfully being treated with low-dose bevacizumab. This is the first published case of a durable intracranial disease control with the MEK-inhibitor trametinib of a stage IV-M1d class-2 MAP2K1-mutant melanoma. This illustrates the utility of NGS profiles that include class-1/2 MAP2K1-mutations in patients with melanoma and other malignancies to provide valuable information on a potentially active individualized treatment option. A prospective clinical trial that further evaluates the efficacy of MEK-inhibitor therapies in MAP2K1-mutated tumors is justified.
Multimodal imaging study of hepatic perivascular epithelioid cell tumors: a case report
Authors: Wenbi Yang, Quanlin Sun, Maocai Shang, Song Li, Xiao Hu, Xianwen Hu
Journal: Front Med (Lausanne) (2023)
Keywords: computed tomography, hepatic, magnetic resonance imaging, perivascular epithelioid cell tumors, positron emission tomography
MeSH terms: Case Reports

Hepatic perivascular epithelioid cell tumors (PEComas) are rare interstitial tumors that are often misdiagnosed as hepatocellular carcinomas due to their unique vascular enhancement patterns. Herein, we present a case of a 61-year-old man who was incidentally found to have a lesion in the left medial segment of the liver during a chest computed tomography (CT) examination performed 4 days prior to his presentation for chest discomfort. Imaging revealed solid components with density similar to that of normal liver tissue and areas of low-density adipose tissue within the lesion. The solid components exhibited increased uptake of fluorine-18 fluorodeoxyglucose on positron emission tomography/CT. Magnetic resonance imaging demonstrated areas with unevenly high signal intensity in both T1-weighted imaging (T1WI) in-phase and T2-weighted imaging (T2WI) sequences, while T2WI in the opposite phase displayed areas with unevenly low signal intensity, indicating the presence of fatty components. Contrast-enhanced T1WI displayed a "fast in and fast out" enhancement pattern. These distinct imaging features contribute to the diagnosis of hepatic PEComas and distinguish it from hepatocellular carcinoma.
Congenital scrub typhus: a case report and literature review
Authors: Pinghua Liang, Zengling Su, Min Chen, Sitao Li
Journal: Front Pediatr (2023)
Keywords: clinical manifestations, congenital scrub typhus, early diagnosis, early treatment, vertical transmission
MeSH terms: Case Reports

Background:
This study aimed to analyze the clinical course of a newborn with congenital scrub typhus caused by vertical transmission and explore early diagnosis and treatment strategies. The clinical data of the neonate were retrospectively analyzed and the related literature was reviewed.
Case presentation:
The newborn was a full-term one, with a good Apgar score at birth. The neonate had apnea at 3 h of life, requiring NICU care and IV antibiotics (piperacillin) for suspected sepsis. An examination revealed hepatosplenomegaly. Blood tests revealed anemia and thrombocytopenia and a chest x-ray showed patchy inflammation. On the second day of life, he developed a fever. On the third day of life, he required mechanical ventilation because his condition worsened after he presented with dyspnea, hypotension, depressed sensorium, and other signs of sepsis. Importantly, the neonate's mother had a history of scrub typhus at 31+ weeks of gestation. While the blood culture result was still pending, high-throughput sequencing of blood and cerebrospinal fluid was performed. To address the suspected scrub typhus infection, oral azithromycin dry suspension was added to the treatment regimen. High-throughput sequencing results on the 5th day of life confirmed a significant presence of 16SrRNA sequences in the blood, suggesting an Orientia tsutsugamushi infection. The neonate steadily recovered and was discharged 16 days after hospitalization. The neonate was followed up for 9 months, and the outcome was favorable with normal growth and development.
Conclusions:
This article reports a case of congenital Orientia tsutsugamushi infection, a rare condition caused by vertical transmission. Our review of the literature, combined with the presented case, brings the total number of documented congenital scrub typhus cases caused by vertical transmission to eight. Regrettably, one patient from this group unexpectedly died on the 10th day of hospitalization, resulting in a mortality rate of 12.5% (1/8). The special transmission mode and clinical manifestations of this disease will serve as an alert to doctors for timely diagnosis and treatment. Because of the non-specific clinical manifestations of congenital scrub typhus, limited understanding, low index of suspicion among clinicians, and a lack of diagnostic facilities, scrub typhus is seriously underdiagnosed in pregnant women, fetuses, and neonates.
Case Report: Lumbar spondylolisthesis with unilateral pedicle cleft and contralateral spondylolysis: a report of two cases and literature review
Authors: Sheng Chang, Yu Wang, Yong Liu, Chao Wang
Journal: Front Surg (2024)
Keywords: dysplasia, lumbar spondylolisthesis, pedicle cleft, spondylolysis, stress fracture
MeSH terms: Case Reports

Background:
The causes of pedicle cleft include congenital dysplasia and stress fractures, both of which are rare conditions. Secondary lumbar spondylolisthesis with combined unilateral pedicle cleft and contralateral spondylolysis is extremely rare and can be easily misdiagnosed. We report two cases with these conditions from different causes and discuss the diagnostic and therapeutic features in the context of the literature review.
Case description:
Case 1 was a 58-year-old female with a stress fracture change at the left L5 pedicle. Case 2 was a 47-year-old female with a pedicle cleft due to hypoplasia of the left L5 pedicle. Both patients had a combined contralateral spondylolysis and Meyerding grade one lumbar spondylolisthesis, while neither had a clear history of lumbar trauma. After initial conservative treatments failed, both patients underwent a single-segment posterior lumbar interbody fusion with bilateral pedicle screw fixation. Both patients were followed up for more than 1 year postoperatively with clinical symptom relief and bony fusion at the pedicle cleft suggested by a CT scan.
Conclusion:
Lumbar spondylolisthesis with unilateral pedicle cleft and contralateral spondylolysis is rarely reported and can be clinically misdiagnosed as simple spondylolisthesis with bilateral spondylolysis. There is no widely accepted surgical option for patients for whom conservative treatment has failed. Our experience suggests that good clinical results may be achieved by single-segment posterior interbody fusion and bilateral pedicle screw fixation. Precise screw placement into the deficient pedicle and sufficient exiting nerve decompression are prerequisites for the success of this surgical option.
Difficulties of Preoperative Diagnosis of Cribriform Morular Thyroid Carcinoma
Authors: Li-Hsin Pan, Jen-Fan Hang, Jui-Yu Chen, Po-Sheng Lee, Yun-Kai Yeh, Tai-Jung Huang, Chii-Min Hwu, Chin-Sung Kuo
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

Background:
Cribriform morular thyroid carcinoma has been recently renamed in the 2022 WHO classification as a thyroid tumor of uncertain histogenesis. The epidemiologic, pathological, and pathophysiological characteristics distinguish it from papillary thyroid carcinoma (PTC). Preoperative genetic testing plays a role in facilitating the differential diagnosis.
Methods:
This report presents a confirmed case of cribriform morular thyroid carcinoma. Initially, fine-needle aspiration cytology suggested a diagnosis of PTC. However, a genetic analysis did not reveal the typical mutations associated with follicular-cell-derived neoplasms.
Results:
A 31-year-old woman was found to have a thyroid nodule at the left lobe measuring 11.8 × 10.2 × 12.4 mm. Ultrasonography indicated a hypoechoic, solid nodule with regular margins. Cytology revealed a papillary structure of tall cells, leading to a PTC diagnosis. Nevertheless, the genetic analysis failed to detect mutations such as BRAF V600E, NRAS Q61R, NRAS Q61K, HRAS Q61R, or HRAS Q61K mutation or the fusion of CCDC6-RET, NCOA4-RET, PAX8-PPARG, ETV6-NTRK3, TPM3-NTRK1, IRF2BP2-NTRK1, or SQSTM1-NTRK1 in the aspirated follicular cells. The patient subsequently underwent total thyroidectomy with central lymph node dissection. Pathological examination revealed a cribriform pattern of spindle-shaped cells with morular areas. Immunohistochemical staining showed positive results for β-catenin and TTF-1, except in the morular regions, and negative results for PAX8, thyroglobulin, and BRAF (clone VE1). The diagnosis was confirmed to be cribriform morular thyroid carcinoma.
Conclusion:
Significant cytological similarity exists between PTC and cribriform morular thyroid carcinoma. Preoperative genetic analysis is important to differentiate these two diseases. Cribriform morular thyroid carcinoma can be differentiated from common follicular-cell-derived tumors by the absence of typical mutations; the presence of nuclear and cytoplasmic expressions of β-catenin; the presence of TTF-1, except in morular areas; and the absence of thyroglobulin.
Incidental diagnosis of cardiac fibroma in an infant with acute viral bronchiolitis
Authors: Yasmine Gorczevski Pigosso, Izabela Mara Fogiato, Gabriela Guimarães Vieira, André Vaz, Ana Paula Percicote, Bruno Hideo Saiki Silva, Paulo Ramos David João
Journal: Rev Paul Pediatr (2024)
MeSH terms: Bronchiolitis, Viral / diagnosis, Fibroma / complications, Fibroma / diagnosis, Heart Neoplasms / complications, Heart Neoplasms / diagnosis, Incidental Findings, Case Reports, Acute Disease, Humans, Infant, Male

Objective:
Pediatric cardiac tumors are rare and, among them, 90% are benign. Cardiac fibroma is the second most frequent tumor, after rhabdomyoma. The objective of this study is to report a case of cardiac fibroma diagnosed incidentally in a patient admitted with acute viral bronchiolitis.
Case description:
A 5-month-old male infant was admitted to the pediatric emergency department with acute viral bronchiolitis requiring hospitalization. He presented a detectable respiratory syncytial virus in oropharyngeal swab, blood test with lymphocytosis and a chest radiography revealed cardiomegaly. Further cardiologic testing was performed detecting elevation of cardiac biomarkers, an electrocardiogram with alteration of left ventricular repolarization and echocardiogram with a heterogeneous mass in the left ventricular, with areas of calcification. A chest angiotomography suggested rhabdomyosarcoma or cardiac fibroma and a magnetic resonance showed a mass, with characteristics suggesting fibroma. The final diagnosis was made after two cardiac catheterizations for biopsy of the lesion, confirming cardiac fibroma by anatomopathological examination. Because the patient had moderate to severe systolic dysfunction, he was submitted to heart transplant.
Comments:
One third of cardiac fibromas are asymptomatic, generally diagnosed late through tests ordered for other reasons. The gold-standard test for definitive diagnosis is biopsy. Cardiac fibroma usually does not present spontaneous regression and, in most cases, partial or total surgical resection is necessary. When tumors are unresectable, heart transplantation should be indicated. It is essential to have detailed characterization of the cardiac mass to establish the most appropriate therapeutic approach for each patient.
Eosinophilic esophagitis improved by the discontinuation of sublingual immunotherapy for aeroallergens: a case report
Authors: Alice Monzani, Marta Cerutti, Sara Curto, Sara Lovaste, Marta Coppola, Francesca Mercalli, Silvia Saettone, Ivana Rabbone
Journal: Front Pediatr (2024)
Keywords: case report, desensitization, environmental aeroallergens, eosinophilic esophagitis, sublingual immunotherapy
MeSH terms: Case Reports

Introduction:
Eosinophilic esophagitis (EoE) is a chronic, immune-mediated inflammation of the esophagus, characterized by symptoms related to esophageal dysfunction, resulting from severe eosinophilic infiltration of the esophageal mucosa. It is common in atopic subjects and food antigens have been identified as the most common triggers. However, a seasonal variation in EoE prevalence, correlated with air pollen levels, is reported, suggesting that also aeroallergens may play a role. Little is known about the interplay between EoE and concomitant atopy treatment for aeroallergens.
Case presentation:
We describe the case of an 11-year-old boy who presented dysphagia, vomiting, drooling, and chest pain while eating meat, developed 15 months after receiving sublingual immunotherapy (SLIT) for Alternaria (SUBLIVAC®). He underwent esophagogastroduodenoscopy (EGD) revealing severe eosinophilic predominant inflammation (100 eos/HPF), consistent with the diagnosis of EoE, not improving at the EGDs performed after both omeprazole and topical corticosteroids treatment, despite symptom improvement. Afterward, immunotherapy was switched from sublingual to injective form. At the EGD performed 1 month later, macroscopic examination of the esophageal mucosa was normal and eosinophilic infiltration was significantly decreased (5-10 eos/HPF).
Conclusions:
SLIT may induce EoE by chronic antigenic exposure of oral mucosa in patients with a robust allergic susceptibility: while attenuating the IgE-mediated immune reactions, the progressive contact with the causative allergen might induce a chronic stimulation of the immune system with the consequent activation of tissue eosinophils. Our data suggest monitoring patients receiving SLIT for EoE symptoms and to discontinue SLIT on their earlier appearance, possibly as a first-line treatment.