OpenMed/multicare-articles huggingface dataset:
Difficulty in management of acute invasive fungal rhinosinusitis in Indonesia during the COVID-19 pandemic: A case report
Authors: Michael Lusida, M Vitanata Arifijanto, Brian Eka Rachman, Firas Farisi Alkaff
Journal: Respir Med Case Rep (2023)
Keywords: brain abscess, covid-19, case report, fungal infection, mucormycosis, tissue necrosis
MeSH terms: Case Reports

Invasive fungal rhinosinusitis is a rare disease with a high morbidity and mortality rate. Lately, COVID-19 has been associated with an increased incidence of this disease. We present the first case of COVID-19-associated acute invasive fungal rhinosinusitis found in Indonesia. The risk factors for the disease include corticosteroid use and antibiotic use. The case was complicated with left orbital cellulitis and cerebral abscess. Difficulty of management in Indonesia during the COVID-19 pandemic includes hesitancy of the patient to seek medical care and the availability of surgical team for COVID-19-positive patients. Monitoring of corticosteroid and antibiotic use must be emphasized during the pandemic. Awareness of the disease needs to be increased in Indonesia.
Re-salvage focal low-dose rate brachytherapy for local recurrence of prostate cancer after salvage focal low-dose rate brachytherapy
Authors: Takahiro Nakamoto, Takashi Yoshida, Toshiko Shiga, Makoto Taguchi, Takao Mishima, Shigenari Kawakita, Takashi Murota, Hidefumi Kinoshita
Journal: IJU Case Rep (2023)
Keywords: brachytherapy, local recurrence, salvage therapy
MeSH terms: Case Reports

Introduction:
Salvage brachytherapy represents an effective treatment for local recurrence of prostate cancer after prior external beam radiotherapy. However, the optimal therapeutic strategies for local recurrence after salvage brachytherapy have not yet been determined.
Case presentation:
We describe the case of a 77-year-old man who underwent re-salvage focal low-dose rate brachytherapy for local recurrence after carbon ion radiotherapy and salvage focal low-dose rate brachytherapy. We performed re-salvage focal low-dose rate brachytherapy for the recurrence with a different type of seed, which resulted in a significant reduction in the prostate-specific antigen level. During the 35-month follow-up after re-salvage focal low-dose rate brachytherapy, no recurrence of prostate cancer and no severe radiation-related toxicities were observed.
Conclusion:
Our patient was successfully treated with re-salvage focal low-dose rate brachytherapy for local recurrence after salvage focal low-dose rate brachytherapy. This treatment strategy might be effective for such patients and is not associated with sexual dysfunction or severe adverse events.
Primary gastric squamous cell carcinoma: case report
Authors: Vasco S Cardoso, Filipa C Costa, Cristina M Santos, José M Guerreiro, Sância F Ramos
Journal: J Surg Case Rep (2024)
Keywords: gastric cancer, gastric cancer treatment, gastric surgery, primary gastric squamous cell carcinoma
MeSH terms: Case Reports

Primary gastric squamous cell carcinoma is an extremely rare entity with an unknown etiopathology, and prognosis is generally poor. While diagnostic criteria are standardized, the optimal treatment strategy is not defined due to its rarity. In this article, we present a case of primary gastric squamous cell carcinoma, discussing its approach and treatment.
Case report: Targeted treatment strategies for Erdheim-Chester disease
Authors: Anita Gulyás, László Imre Pinczés, János Mátyus, Edit Végh, Judit Bedekovics, Judit Tóth, Sándor Barna, Zsolt Hunya, Imre Lőrinc Szabó, Annamária Gazdag, Árpád Illés, Ferenc Magyari
Journal: Front Oncol (2024)
Keywords: braf inhibitors, erdheim-chester disease (ecd), pet/ct, cobimetinib, histiocytosis, interferon alpha, myeloid neoplasm
MeSH terms: Case Reports

Introduction:
Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can present with a wide range of symptoms, making a differential diagnosis especially difficult. The primary and most important diagnostic tool is a biopsy of the affected organ/tissue. Nowadays the analysis of different mutations affecting the BRAF and MAPK pathways makes it possible to use targeted treatments, such as vemurafenib, dabrafenib, or cobimetinib.
Objective:
Our aim is to present the results of three male patients treated in our hematology department.
Results:
Our BRAF mutation-positive patient presented with retroperitoneal tissue proliferation and diabetes insipidus. The initial therapy of choice was dabrafenib. After 3 months of treatment, 18F-fluoro-deoxyglucose positron emission tomography (FDG-PET)/computed tomography (CT) scans showed regression, and after 2 years of treatment, no disease activity was detected. In our second patient, a recurrent febrile state (not explained by other reasons) and diabetes insipidus suggested the diagnosis. A femoral bone biopsy confirmed BRAF-negative ECD. The first-line therapy was interferon-alpha. After 3 months of treatment, no response was observed on 18FDG-PET/CT, and treatment with cobimetinib was started. The control 18FDG-PET/CT imaging was negative. Our third patient was evaluated for dyspnea, and a CT scan showed fibrosis with hilar lymphadenomegaly. A lung biopsy confirmed BRAF-negative ECD. We started treatment with interferon-alpha, but unfortunately, no improvement was observed. Second-line treatment with cobimetinib resulted in a partial metabolic response (PMR) according to control 18FDG-PET/CT.
Conclusions:
Our results demonstrate that an appropriately chosen treatment can lead to a good therapeutic response, but dose reduction may be necessary due to side effects. With advanced targeted therapeutic treatment options, survival and quality of life are significantly improved.
Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer
Authors: Marco Capezzone, Maja Rossi, Elisabetta Macerola, Silvia Cantara, Francesco Pepe, Eugenia Maria Morabito, Gilda Dalmazio, Sara Bardi, Agostino Ognibene, Massimo Alessandri, Gabriele Materazzi, Luigi De Napoli, Michele Cirianni, Liborio Torregrossa
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Although BRAFV600E represents 95% of all BRAF mutations, uncommon BRAF mutations have been reported in thyroid carcinomas and represent an alternative mechanism of BRAF activation with unclear clinical significance. We report a novel non-V600E mutation (c.1799_1812delinsAT, p.V600_W604delinsD), identified preoperatively with next-generation sequencing (NGS) on the material obtained with fine-needle aspiration cytology (FNAC) performed on a thyroid nodule cytologically suspicious for malignancy in a 35-year-old male patient. The presence of this new variant of BRAF mutation was subsequently confirmed in the postoperative phase by direct Sanger sequencing. In conclusion, we report a new non-V600E variant previously undetected in papillary thyroid cancer. In addition, this case report shows that the NGS technique on cytological tissue allows to detect the presence of rare mutations, thus increasing the diagnostic specificity of molecular analysis.
Case Report: Post-transplant lymphoproliferative disorder as a serious complication of vascularized composite allotransplantation
Authors: Alessandra Zaccardelli, Fabienne M Lucas, Ann S LaCasce, Anil K Chandraker, Jamil R Azzi, Simon G Talbot
Journal: Front Transplant (2024)
Keywords: histopathology diffuse large b-cell lymphoma, immunosuppression, post-transplant lymphoproliferative disorder, rejection, vascularized composite allotransplantation
MeSH terms: Case Reports

Vascularized composite allotransplantation (VCA) is an emerging field in transplant surgery. Despite overall positive outcomes, VCA confers risk for multiple complications related to the procedure and subsequent immunosuppression. Post-transplant lymphoproliferative disorder (PTLD) is a heterogeneous group of lymphoproliferative disorders occurring after solid organ and hematopoietic stem cell transplant. A patient with PTLD after bilateral upper extremity transplantation is presented as well as a review of all known cases of PTLD after VCA, with a focus on the unique epidemiology, presentation, and treatment in this population.
Archived Cytogenetic Cell Pellets Used to Detect a BCR::ABL1 Driver Mutation Eight Years before Disease Presentation
Authors: Ramakrishnan Sasi, Michelle Spruill, Peter L Perrotta
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

Evidence suggests that the earliest genetic events in the evolution of a cancer can predate diagnosis by several years or decades. In chronic myeloid leukemia (CML), the BCR::ABL1 fusion driver mutation can be present for an extended period before clinical disease manifests. The time between the BCR::ABL1 occurrence and symptom onset is referred to as the latency period. Though modeling studies predict this latency period is no more than ten years, it is still unclear how long it can be. We present a case of a patient referred for suspected CML. Both karyotype and FISH analysis identified the t(9;22)(q34;q11.2) translocation resulting in the Philadelphia chromosome formation in 98.5% of cells analyzed. The patient responded to imatinib and achieved a sustained complete hematologic and cytogenetic remission. Clinical history revealed that the same patient presented eight years previously with anemia. Various non-neoplastic conditions were excluded, and a bone marrow biopsy was performed to rule out MDS. Cytogenetic analysis at that time revealed del(20q) as the sole abnormality in all 20 cells analyzed. No treatment was given since the presence of isolated del(20q) is not considered evidence of MDS in the absence of diagnostic morphologic criteria. Retrospective FISH analysis of archived bone marrow pellets from this previous specimen revealed the presence of BCR::ABL1 in 1.8% of cells. A clonal population of cells harboring the BCR::ABL1 fusion was unambiguously detected in this patient's archived bone marrow pellet obtained eight years before the current CML diagnosis. This case demonstrates that Carnoy's fixed nuclear pellets stored in cytogenetic laboratories are suitable for detecting driver mutations years before disease presentation. Such archived material may be useful for the retrospective studies needed to better understand the initiation and subsequent development of hematological malignancies. By identifying individuals who are at increased risk, it may be possible to initiate preventive measures or begin treatment at an earlier stage before disease progression.
Rapid response to dupilumab in an adult patient with eosinophilic esophagitis and allergic asthma
Authors: Benjamin Klein, Regina Treudler
Journal: Allergol Select (2024)
Keywords: eosinophilic, esophagitis
MeSH terms: Case Reports

Background:
Eosinophilic esophagitis (EoE) is an inflammatory disease of the esophagus that belongs to the spectrum of Th2-mediated diseases. It is often associated with atopic comorbidities such as allergic asthma (AA) and poses a therapeutic challenge.
Case report:
We report on a 43-year-old patient with EoE and AA who did not show sufficient therapeutic control despite standard therapy. We started treatment with dupilumab, whereupon both EoE and AA rapidly improved and complete symptom resolution could be documented. The response to dupilumab was assessed by laboratory monitoring and gastroscopy, which showed a reduction of markers of type II inflammation and eosinophilic infiltrates in the esophagus.
Summary:
Our report emphasizes the effective and safe use of dupilumab as a treatment option for EoE with concomitant beneficial effects on AA.
Severe chronic non-bacterial osteomyelitis in combination with total MPO deficiency and responsiveness to TNFα inhibition
Authors: Martina Sundqvist, Karin Christenson, Per Wekell, Halla Björnsdottir, Agnes Dahlstrand Rudin, Felix P Sanchez Klose, Tilmann Kallinich, Amanda Welin, Lena Björkman, Johan Bylund, Anna Karlsson-Bengtsson, Stefan Berg
Journal: Front Immunol (2023)
Keywords: cno, crmo, ros, tnfα, adalimumab, autoinflammation, neutrophils
MeSH terms: Malnutrition, Osteomyelitis / diagnosis, Osteomyelitis / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Adalimumab / therapeutic use, Adolescent, Child, Female, Humans, Inflammation, Reactive Oxygen Species, Tumor Necrosis Factor-alpha, Adalimumab, Reactive Oxygen Species, Tumor Necrosis Factor-alpha, Chronic recurrent multifocal osteomyelitis, Myeloperoxidase Deficiency

We describe a female patient suffering from severe chronic non-bacterial osteomyelitis (CNO) with systemic inflammation and advanced malnutrition and complete deficiency of myeloperoxidase (MPO). CNO is a rare autoinflammatory bone disorder associated with dysregulation of the innate immune system. MPO deficiency is a genetic disorder with partial or complete absence of the phagocyte peroxidase MPO. MPO deficiency has no established clinical phenotype but reports indicate increased susceptibility to infection and chronic inflammation. The patient's symptoms began at 10 years of age with pain in the thighs, systemic inflammation and malnutrition. She was diagnosed with CNO at 14 years of age. Treatment with nonsteroidal anti-inflammatory drugs, corticosteroids, bisphosphonates or IL1-receptor antagonists (anakinra) did not relieve the symptoms. However, the patient responded instantly and recovered from her clinical symptoms when treated with TNFα blockade (adalimumab). Three years after treatment initiation adalimumab was withdrawn, resulting in rapid symptom recurrence. When reintroducing adalimumab, the patient promptly responded and went into remission. In addition to clinical and laboratory profiles, neutrophil functions (reactive oxygen species, ROS; neutrophil extracellular traps, NETs; degranulation; apoptosis; elastase activity) were investigated both in a highly inflammatory state (without treatment) and in remission (on treatment). At diagnosis, neither IL1β, IL6, nor TNFα was significantly elevated in serum, but since TNFα blockade terminated the inflammatory symptoms, the disease was likely TNFα-driven. All neutrophil parameters were normal both during treatment and treatment withdrawal, except for MPO-dependent intracellular ROS- and NET formation. The role of total MPO deficiency for disease etiology and severity is discussed.
Invasive Candida pneumonia, in association with Candida esophagitis and gastritis, in a presumably immunocompetent patient
Authors: Devon Jackson, Lamarque Coke, Kamilah Fernandez, Kathriel Brister
Journal: Autops Case Rep (2023)
Keywords: candida, esophagitis, gastritis, pneumonia
MeSH terms: Case Reports

Candida pneumonia remains a difficult diagnosis and is most common in immunocompromised individuals. It has been rarely reported in immunocompetent individuals. We present a case of unsuspected Candida pneumonia associated with Candida esophagitis and gastritis discovered on postmortem examination in a presumably immunocompetent patient. The patient was a 71-year-old male who presented with chest pain and was subsequently found to have a myocardial infarction treated with angioplasty and drug-eluting stent placement. The patient's recovery was complicated by pneumonia refractory to antibiotics, and he went on to experience acute hypoxic respiratory failure, sepsis, disseminated intravascular coagulation (DIC), and ultimately expired. Autopsy revealed evidence of myocardial infarction as well as unsuspected Candida albicans pneumonia, esophagitis, and gastritis. Our case highlights how a presumably immunocompetent individual can develop this infection and how Candida esophagitis and Candida gastritis can be seen in association with Candida pneumonia. Due to the difficulty in diagnosing Candida pneumonia antemortem, autopsies provide a key opportunity to better understand these cases and the factors that may contribute to their development.
Hemodialysis Catheter-Associated Right Atrial Thrombus Diagnosed via Point of Care Transesophageal Echocardiogram
Authors: Heather Andrade, Julie Carroll, Evan Tomkiewicz, Edwin Jackson
Journal: POCUS J (2024)
Keywords: catheter associated right atrial thrombus, tee, thrombus
MeSH terms: Case Reports

Catheter-associated right atrial thrombus (CRAT) is a potential complication of central venous catheter placement and is associated with an increase in morbidity and mortality. The precise incidence of CRAT is unknown, and there is a lack of clear screening and management guidelines for this condition. Additionally, the diagnosis is often missed when using transthoracic echocardiography (TTE) alone. Here, we present a case of a 64-year-old female admitted to the medical intensive care unit with multiorgan dysfunction who was diagnosed with hemodialysis catheter-associated right atrial thrombus (HDCRAT) via intensivist-performed point of care transesophageal echocardiography (TEE) after an initial TTE was negative. This patient was successfully treated with systemic anticoagulation, local thrombolysis, and delayed removal of the temporary hemodialysis catheter. Our experience serves to highlight the improved visualization of the right atrium and the diagnostic superiority of HDCRAT with TEE. We suspect that with greater utilization of TEE among intensivists, CRAT and HDCRAT will have increased recognition. It is imperative that intensivists are aware of this complication and various management strategies. Still, more studies are needed to establish clear management guidelines for CRAT and the associated complications.
Pulmonary alveolar microlithiasis combined with gastric mucosal calcification: a case report
Authors: Wen-Zhuo Li, Shuo Liu, Ji-Li Luo, Jing Xia
Journal: Front Med (Lausanne) (2024)
Keywords: fbn1, pam, case report, gastric mucosal calcinosis, pulmonary alveolar microlithiasis
MeSH terms: Case Reports

Background:
Pulmonary alveolar microlithiasis (PAM) is a rare disease whose clinical and imaging manifestations are non-specific, characterized by the deposition of microliths, which primarily consist of calcium and phosphorus, within the alveoli. In the cases of PAM, patients combined with calcification of other organs such as gastric mucosal calcification are less common.
Case presentation:
A 59-year-old woman was admitted to our hospital due to cough producing white, foamy sputum, accompanied by dyspnea and fever for 20 days. The CT scan showed diffuse ground-glass opacities and calcification of the gastric mucosa. Lung tissue biopsy revealed the presence of calcification and granulomatous foreign bodies in the interstitium and alveolar cavity. In the later stages, she developed painful skin petechiae. For this patient, the diagnosis of PAM, gastric mucosal calcification, and purpura fulminans was made. However, the genetic test results hinted that the patient and her son had a heterozygous mutation in the FBN1 gene, but her daughter's genetic test results were normal. Although the patient received anti-infection treatment, steroids, and oxygen therapy, her condition did not improve.
Conclusion:
We reported a rare case of PAM combined with calcification of other organs and purpura fulminans. Treatment of steroids did not show any benefit. The causative mechanism and effective treatment of this disease remain unclear. More treatments need to be explored.
Case report: Report of a rare encounter: metastasis of renal cell carcinoma to the thyroid
Authors: Siyi Xu, Jiawei Xu, Chengdong Yu, Ying Zeng, Lei Tang, Mu Tang, Tenghua Yu, Zhengkui Sun, Xiaofang Zhang
Journal: Front Oncol (2024)
Keywords: case report, diagnosis, metastasis, pathology, renal cell carcinoma, thyroid
MeSH terms: Case Reports

Renal cell carcinoma (RCC) is the most common renal tumor, with lung, bone, and liver being the primary sites of metastasis. Thyroid metastasis, on the other hand, is relatively uncommon. Metastatic tumors in the thyroid gland typically manifest as multiple or isolated nodules, which can be easily overlooked due to the lack of specific clinical and imaging features. However, the identification of thyroid metastasis suggests the presence of systemic metastasis and is indicative of a poor prognosis for patients. In this paper, we present two cases of thyroid metastasis following nephrectomy, with the objective of enhancing understanding among medical community regarding the diagnosis and treatment of thyroid metastasis originating from renal cell carcinoma. By raising awareness about this phenomenon, we emphasize the importance of early detection and diagnosis to improve patient prognoses. The implementation of standardized treatment protocols at the earliest possible stage is also emphasized. Through this research, we aim to contribute to the early identification and management of thyroid metastasis in patients with renal cell carcinoma, ultimately leading to improved outcomes.
Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Authors: Heba R Hamad, Shoroq Alamin, Moteb A Alotaibi
Journal: Cureus (2024)
Keywords: (ibd) inflammatory bowel disease, cicatricial alopecia, hypothyrodism, lichen planopilaris (lpp), multiple autoimmune syndrome (mas)
MeSH terms: Case Reports

Lichen planopilaris (LPP) is an uncommon inflammatory scalp condition. Its typical clinical presentation includes scaly, erythematous plaques resulting in irreversible alopecia. In this study, we report a female in her late 30s with hypothyroidism and Crohn's disease. She presented with gradual, localized hair loss that had been ongoing for the past four months. A thorough physical examination, and complemented by dermoscopic evaluation, confirmed the diagnosis of LPP. Individuals who have an autoimmune disease (AID) have a heightened propensity to develop additional AID. The coexistence of three or more AIDs falls under the definition of multiple autoimmune syndrome (MAS). This is the first case, to the best of our knowledge, of LPP being associated with MAS.