OpenMed/multicare-articles huggingface dataset:
Rare Pathology Case Report: Low-Grade Endometrial Stromal Sarcoma Forming Sex Cord- and Endometrioid Gland-Like Differentiation in Metastatic Foci
Authors: Haneen Al-Maghrabi, Ghadeer Mokhtar, Jaudah Al-Maghrabi
Journal: Case Rep Pathol (2024)
Keywords: endometrial gland–like differentiation, endometrial stromal sarcoma, metastasis, sex cord–like differentiation
MeSH terms: Case Reports

Low-grade endometrial stromal sarcomas (LGESSs) are indolent tumors with a slow progression rate that tend to recur locally. They represent up to 10% of all primary sarcomas of the uterus and endometrium and only 0.2% of all genital tract tumors. They are commonly present in a younger demographic compared to other uterine tumors, with patients' ages typically between 42 and 58 years old. Although the overall 5-year survival rate is excellent, it has a natural history of delayed metastases which may manifest even decades after the disease was first diagnosed. They typically present as poorly defined lesions infiltrating the myometrium, along with extensive engagement of surrounding vascular structures. LGESS may display variants of different morphologies such as smooth muscle, fibromyxoid, sex cord-like, and endometrioid-type gland differentiation. These variations can pose a diagnostic challenge. The occurrence of this differentiation in a metastatic focus rather than in the primary tumor is seldom recorded in the literature. We present a case of a 51-year-old lady with a history of LGESS who was treated with surgery and radiotherapy and then presented after 12 years with an inferior vena cava (IVC) mass, which was confirmed histologically to be metastatic LGESS. Immunohistochemistry studies reveal strong positivity for CD10, WT1, and PR. These markers were negative in the sex cord and endometrioid gland-like differentiation counterparts. The patient had her initial follow-up appointment after the IVC mass resection, and she was in good health with no complications. To the best of our knowledge, this case represents a unique instance of metastatic LGESS exhibiting both sex cord and endometrioid gland-like differentiation that has not been observed in the primary tumor.
Autoimmune GFAP astrocytopathy after viral encephalitis: a case report of bimodal overlapping encephalitis
Authors: Ping Cheng, Wenjuan Huang, Meifang Yang, Zhiren Chen, Yifan Geng, Xia Zhang, Weiwei Chen
Journal: Front Immunol (2023)
Keywords: case report, encephalitis, glial fibrillary acidic protein (gfap), herpes simplex viral encephalitis (hsve), viral encephalitis (ve)
MeSH terms: Autoimmune Diseases of the Nervous System, Encephalitis / diagnosis, Encephalitis / drug therapy, Encephalitis / etiology, Encephalitis, Viral / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Adult, Glial Fibrillary Acidic Protein, Humans, Immunoglobulins, Intravenous / therapeutic use, Male, Immunoglobulins, Intravenous, Glial Fibrillary Acidic Protein, Hashimoto's encephalitis

Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is a treatable autoimmune disorder affecting the central nervous system. Despite extensive research, the exact etiology and pathogenesis of this condition remain unclear. In recent years, autoimmune encephalitis (AE) after viral encephalitis (VE) has gathered significant attention. Here, we present a case report of autoimmune GFAP astrocytopathy after VE in a 43-year-old Asian male with a history of oral and labial herpes. The patient presented with high-grade fever, headache, urinary retention, unresponsiveness, and apathy. Elevated levels of protein and GFAP-IgG were observed in the cerebrospinal fluid (CSF), and enhanced brain magnetic resonance imaging (MRI) revealed linear enhancement oriented radially to the ventricles. Treatment with intravenous immunoglobulin (IVIG) resulted in symptom relief, reduced lesion enhancement, and decreased protein levels. This case report highlights bimodal encephalitis with no discernible interval between VE and autoimmune GFAP astrocytopathy, which poses diagnostic challenges. Notably, autoimmune GFAP astrocytopathy is a novel form of autoimmune encephalitis, and its treatment lacks sufficient clinical experience. Intriguingly, our patient demonstrated sensitivity to IVIG, a treatment that differed from past reports. Therefore, further exploration of treatment strategies for this condition is warranted.
Isatuximab-carfilzomib-dexamethasone immediately after failing of the quadruplet Daratumumab-bortezomib-lenalidomide-dexamethasone (Dara-VRD): Striking response with no washout in a newly diagnosed multiple myeloma
Authors: Juan José Gil-Fernández, Patricia García Ramírez, Marta Callejas Charavía
Journal: Clin Case Rep (2024)
Keywords: daratumumab‐refractory myeloma, first‐line therapy, isatuximab post daratumumab, newly diagnosed multiple myeloma
MeSH terms: Case Reports

Biochemical evolution of serum IgG-Kappa monoclonal component during the first line with VRD (x1), DARA-VRD (x4), and the second line with ISA-KD (x4).
EGFR kinase domain duplication in lung adenocarcinoma with systemic and intracranial response to a double-dose of furmonertinib: a case report and literature review
Authors: Hong Lin, Zhengyuan Yang, Zhifeng Li, Junwei Chen, Hongbiao Wang, Yingcheng Lin
Journal: Front Oncol (2024)
Keywords: egfr-kdd, brain metastasis, furmonertinib, lung adenocarcinoma, targeted therapy
MeSH terms: Case Reports

Background:
EGFR kinase domain duplication (EGFR-KDD) is an infrequent oncogenic driver mutation in lung adenocarcinoma. It may be a potential target benefit from EGFR-tyrosine kinase inhibitors (TKIs) treatment.
Case presentation:
A 66-year-old Chinese male was diagnosed with lung adenocarcinoma in stage IVb with brain metastases. Next-generation sequencing revealed EGFR-KDD mutation. The patient received furmonertinib 160mg daily for anti-cancer treatment and obtained therapeutic efficacy with partial response (PR). Progression-free survival (PFS) duration from monotherapy was 16 months. With slow progressions, combined radiotherapy and anti-vascular targeted therapy also brought a continuous decrease in the tumors. The patient has an overall survival (OS) duration of more than 22 months and still benefits from double-dose furmonertinib.
Conclusions:
This report provided direct evidence for the treatment of EGFR-KDD to use furmonertinib. A Large-scale study is needed to confirm this preliminary finding.
A Rare Case of Nasal Sarcoma with BCOR Internal Tandem Duplication Showing Complete Pathologic Response to the VDC-IE Chemotherapy Protocol
Authors: Samer Salah, Maher A Sughayer, Omar Jaber, Nebras Abu Abed, Fatena Ajlouni, Wisam Al Gargaz, Ramiz Abu Hijlih, Fawzi Abuhijla, Akram Al-Ibraheem, Farah Alul, Walid Naser
Journal: Case Rep Oncol Med (2023)
MeSH terms: Case Reports

Sarcoma with BCOR genetic alteration is an exceptionally rare and emerging subtype of sarcoma. It is categorized into two types: BCOR-related gene fusions such as BCOR::CCNB3 sarcomas and other BCOR-rearranged sarcoma and sarcomas with internal tandem duplication of BCOR genes such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy. BCOR::CCNB3 sarcomas predominantly arise in bone rather than soft tissue and exhibit a higher occurrence in children and adolescent males, whereas sarcomas with BCOR internal tandem duplication show a wider age range but usually arise in the first year of life. Due to their rarity, there is ongoing debate and uncertainty regarding the best treatment approach, with a lack of specific clinical trials addressing these tumors. In this report, we present a unique case of sarcoma with internal tandem duplication of BCOR gene originating in the nasal region. The tumor was successfully and completely resected using the standard VDC-IE chemotherapy protocol, resulting in an unprecedented 100 percent tumor necrosis. The patient has completed the protocol and remains recurrence-free 13 months after diagnosis. This case suggests potential efficacy of the standard VDC-IE protocol in achieving remarkable responses in BCOR rearrangement sarcomas, including the internal tandem duplication subtype. However, further studies are needed to determine the optimal treatment strategies for this disease.
Pelvic Abscess Caused by Ureteral Calculus and Abscess Treatment through Aspiration by Transperineal Puncture
Authors: Bo-Ran An, Chao Gao, Di An
Journal: Case Rep Urol (2024)
MeSH terms: Case Reports

Pelvic abscess is mostly caused by gynecological inflammation or digestive system diseases such as appendicitis or Crohn's disease. This case of pelvic abscess originates from ureteral calculus and is not commonly seen in clinical practice. This is mainly due to the patient's ureteral stones not being actively treated. After local puncture and pus extraction, as well as the application of effective antibiotics, the patient recovered. Therefore, this case provides clinical doctors with experience that ureteral stones may cause serious complications and should be actively treated after detection.
Possible cannabinoid-induced lactic acidosis requiring emergent dialysis
Authors: Marcus H Cummins, Brandon J Croft
Journal: SAGE Open Med Case Rep (2024)
Keywords: lactic acidosis, cannabinoids, marijuana, type b lactic acidosis
MeSH terms: Case Reports

Lactic acidosis is a common finding in the intensive care unit and is associated with increased mortality. We present the case of a 42-year-old male with alcohol use disorder and cirrhosis who developed sudden onset shortness of breath while smoking marijuana. He was found to have a lactic acid level of 25.6 mmol/L with a significant anion gap metabolic acidosis requiring emergent dialysis. He was hypertensive without evidence of tissue hypoperfusion. His profound type B lactic acidosis was primarily attributed to a rare manifestation of cannabinoid toxicity. At a clinic visit 3 months later, he was doing well and had not smoked marijuana since his discharge.
An Uncommon Case of Upper-Extremity Mucormycosis in a Patient With Acute Myeloid Leukemia
Authors: Teren Yedikian, Ryu Yoshida, Meghan McCullough, Peter Deptula, David Kulber
Journal: J Hand Surg Glob Online (2023)
Keywords: aml, mucorales, mucormycosis, upper extremity, zygomycetes
MeSH terms: Case Reports

Upper-extremity mucormycosis is a rare, life-threatening fungal infection mainly affecting immunocompromised patients. We report a case of a 30-year-old woman with acute myelogenous leukemia who developed this infection during her hospital stay. The culprit was Mucorales, a subgroup of Zygomycetes species known for fast-progressing, highly lethal infections. She presented with fever, chills, and a lesion on her left forearm that worsened despite initial broad-spectrum antibiotics. A punch biopsy confirmed the diagnosis, leading to antifungal therapy with isavuconazonium sulfate and later amphotericin B, combined with surgery. Timely intervention is critical because delayed treatment can result in severe complications and death. Early suspicion, histology, microscopy, and fungal cultures are vital for accurate diagnosis. Treatment primarily involves amphotericin B, whereas adjunctive therapies such as topical amphotericin B and hyperbaric oxygen show promise. This case underscores the importance of prompt medical and surgical action, enhancing early detection of mucormycosis in immunocompromised patients.
Immunoglobulin G4 disease-related retroperitoneal fibrosis: A series of five cases
Authors: Mohd Ilyas, Shwait Sharma, Vikrant Gupta
Journal: SA J Radiol (2024)
Keywords: ct, mri, aorta, immunoglobulin g4-related disease, retroperitoneal fibrosis, ureter
MeSH terms: Case Reports

Immunoglobulin G4 (IgG4)-related disease has the potential to impact any part of the body, including the walls of large- and medium-sized blood vessels and the ureters. While histopathologic examination is currently the standard method for identifying organ involvement and diagnosing IgG4-related disease (IgG4-RD), obtaining biopsy or surgical samples from vessel or ureteral walls is challenging. Given that patients may display only mild symptoms, non-invasive imaging plays a vital role in both diagnosing and managing IgG4-related diseases. Multidetector CT scans are valuable in establishing the primary diagnosis, identifying anatomical landmarks and assessing their relationships. Involvement of the genitourinary organs, such as the ureter, bladder, urethra, and male and female reproductive organs in IgG4-RD, is infrequent when compared to kidney involvement. The imaging findings may include the presence of a localised mass within or surrounding the affected organ or a generalised enlargement of the organ. This report includes cross-sectional images of five cases of IgG4-RD involving large- and medium-sized blood vessels (the aorta and superior mesenteric artery) and the ureters.
Contribution:
This case series provides insight into the various imaging appearances of IgG4-related retroperitoneal organ involvement and helps differentiate it radiologically from retroperitoneal fibrosis.
Cryoballoon ablation of peri-mitral atrial flutter refractory to radiofrequency ablation: a case report
Authors: Masao Takahashi, Hirofumi Kujiraoka, Tomoyuki Arai, Rintaro Hojo, Seiji Fukamizu
Journal: Eur Heart J Case Rep (2023)
Keywords: case report, cryoballoon ablation, epicardial conduction, intramural conduction, peri-mitral atrial flutter, radiofrequency ablation
MeSH terms: Case Reports

Background:
The radiofrequency catheter ablation of peri-mitral atrial flutter is occasionally difficult, mostly due to epicardial or intramural conduction on the mitral isthmus (MI). However, cryoballoon ablation (CBA) of peri-mitral atrial flutter refractory to radiofrequency ablation has not been reported.
Case summary:
We report a case of a 66-year-old male patient who experienced a recurrence of atypical atrial flutter and underwent the sixth catheter ablation. The activation and entrainment maps showed that this atypical atrial flutter (AFL) was peri-mitral AFL via pathways other than endocardial conduction in the MI. Previous radiofrequency catheter ablation attempts on the MI line, including endocardial, coronary sinus, and epicardial ablations, failed to achieve a bidirectional block of the MI. In this case, we selected CBA for the MI area and successfully achieved a bidirectional block of the MI.
Discussion:
Although using CBA in the MI is off-label, it could be safely implemented using CARTOUNIVU™. We attributed the success of the bidirectional block of the MI in this case to the crimping of the northern hemisphere of the CBA to the mitral isthmus area, which resulted in the formation of a broad, uniform, and deep ablation lesion site.
Beyond the Common: A Case Report on Right Paraduodenal Hernia
Authors: Thikra M Alblowi
Journal: Cureus (2024)
Keywords: internal hernia, intestinal obstruction, laparoscopic hernia repair, mesenteric defect, right paraduodenal hernia
MeSH terms: Case Reports

Paraduodenal hernias, particularly those on the right side, are rare but clinically significant occurrences characterized by the abnormal protrusion of abdominal contents through mesenteric defects adjacent to the duodenum. These hernias result from embryologic malformations and can lead to complications such as intermittent abdominal pain, nausea, and, in severe cases, bowel obstruction. This case describes a 48-year-old male who presented with a 24-hour history of colicky abdominal pain in the right upper quadrant, associated with nausea. Further investigation, including a computed tomography scan, revealed a right paraduodenal hernia with herniation of small bowel loops through a mesenteric defect. Timely surgical intervention via laparoscopic exploration confirmed the diagnosis and facilitated the reduction of herniated bowel, followed by meticulous repair of the mesenteric defect using nonabsorbable sutures. The patient's recovery was uneventful, with a return to normal bowel function, and postoperative follow-up showed the resolution of symptoms. This case underscores the clinical complexity and management challenges associated with right paraduodenal hernias. Surgical intervention, guided by laparoscopic exploration, emerged as an effective and minimally invasive approach. The successful reduction of herniated small bowel loops and meticulous closure of the mesenteric defect contributed to a favorable postoperative course, highlighting the importance of timely intervention to prevent complications.
Case Report: Toxic megacolon secondary to chronic constipation and cocaine consumption
Authors: Bertha Dimas, Guillermo Hernández, Ivonne Peralta, Ansony Godinez, Gabriela Gutierrez, Fernando Cruz
Journal: Front Surg (2024)
Keywords: bowel perforation, chronic constipation, cocaine abuse, total colectomy, toxic megacolon
MeSH terms: Case Reports

Toxic megacolon (TM) is a severe condition characterized by acute colonic dilation, with specific radiological and clinical signs. The multifactorial etiology of TM is primarily associated with inflammatory bowel disease and infections. However, TM remains a challenging complication due to its potential for rapid progression to life-threatening conditions. This report describes a rare case of TM in a 25-year-old male with a history of recurrent constipation and chronic cocaine consumption. Examination and imaging indicated acute intestinal obstruction with dilated colon segments and fecal impaction, necessitating an urgent laparotomy. Surgery revealed pan-colonic dilatation and sigmoid perforations, leading to a total colectomy and ileostomy. Chronic constipation, often perceived as benign, can escalate into a critical situation, possibly exacerbated by cocaine-induced muscle weakness and hypoxia. Evidence suggests that cocaine negatively affects the intestinal mucosa, potentially leading to ischemia. Chronic factors, including the use of enemas, may have contributed to megacolon development and perforation. Overall, this report underscores the critical elements of diagnosis and the importance of patients' medical history, particularly those with unusual risk profiles. In addition, it highlights the need for further research to fully understand the implications of these cases.
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep
Authors: Laura Licchetta, Lucia Di Giorgi, Margherita Santucci, Lisa Taruffi, Carlotta Stipa, Raffaella Minardi, Valerio Carelli, Francesca Bisulli
Journal: Mol Genet Genomic Med (2024)
Keywords: pars2, continuous spikes and waves during slow sleep (csws), developmental and epileptic encephalopathy (dee), spike-and-wave activation in sleep (swas)
MeSH terms: Microcephaly, Spasms, Infantile / genetics, Case Reports, Review, Child, Electroencephalography, Humans, Phenotype, Sleep / physiology

Background:
Biallelic pathogenic variants in the mitochondrial prolyl-tRNA synthetase 2 gene (PARS2, OMIM * 612036) have been associated with Developmental and Epileptic Encephalopathy-75 (DEE-75, MIM #618437). This condition is typically characterized by early-onset refractory infantile spasms with hypsarrhythmia, intellectual disability, microcephaly, cerebral atrophy with hypomyelination, lactic acidemia, and cardiomyopathy. Most affected individuals do not survive beyond the age of 10 years.
Methods:
We describe a patient with early-onset DEE, consistently showing an EEG pattern of Spike-and-Wave Activation in Sleep (SWAS) since childhood. The patient underwent extensive clinical, metabolic and genetic investigations, including whole exome sequencing (WES).
Results:
WES analysis identified compound heterozygous variants in PARS2 that have been already reported as pathogenic. A literature review of PARS2-associated DEE, focusing mainly on the electroclinical phenotype, did not reveal the association of SWAS with pathogenic variants in PARS2. Notably, unlike previously reported cases with the same genotype, this patient had longer survival without cardiac involvement or lactic acidosis, suggesting potential genetic modifiers contributing to disease variability.
Conclusion:
These findings widen the genetic heterogeneity of DEE-SWAS, including PARS2 as a causative gene in this syndromic entity, and highlight the importance of prolonged sleep EEG recording for the recognition of SWAS as a possible electroclinical evolution of PARS2-related DEE.
Case report: Safety of Tumor Treating Fields therapy with an implantable cardiac pacemaker in a patient with glioblastoma
Authors: Gregory B Biedermann, Kathleen Merrifield, Leonardo Lustgarten
Journal: Front Oncol (2024)
Keywords: optune-gio, ttfields therapy, active implantable medical device, cardiac pacemaker, glioblastoma, safety
MeSH terms: Case Reports

Tumor Treating Fields (TTFields) therapy is an anti-cancer treatment modality that is delivered noninvasively to the tumor site via skin-placed arrays. The therapy is US Food and Drug Administration (FDA) approved and Conformité Européenne (CE) marked for adults with newly diagnosed and recurrent glioblastoma (GBM) (grade 4 glioma in the European Union). To date, there are limited data on the safety and efficacy of TTFields therapy in patients with implanted cardiac pacemakers. Herein, we report a case of a 79-year-old male patient with GBM receiving TTFields therapy with a prior medical history of cardiac events necessitating a cardiac pacemaker. The patient presented to the emergency department in May 2021 with newly onset left-sided weakness along with seizures. Based on an initial evaluation and results of the initial computed tomography (CT) scans (May 2021), the patient was clinically diagnosed with a high-grade glioma which was later confirmed as IDH wildtype following a biopsy. He was treated with radiotherapy (40 Gy in 15 fractions), followed by adjuvant temozolomide (TMZ) (75 mg/m2). TTFields therapy was initiated alongside maintenance TMZ (150 mg/m2). Average TTFields therapy usage was 67% throughout the duration of treatment. Follow-up CT scans (February and May of 2022) indicated stable disease. CT scans in August 2022 showed an increase in size of a mass with heterogeneous contrast enhancement and the patient subsequently passed away in October 2022. The patient's last cardiac tests demonstrated that the pacemaker was operational with adequate cardiac function. This report suggests that TTFields therapy concomitant with an implanted electronic device may be safe in patients with GBM.
Sudden Death Due to Coronary Vasculitis: An Unexpected Autopsy Finding and Unusual Association With Thymic Hyperplasia
Authors: Aryel Brookins, David M Waters, Lorenzo Gitto
Journal: Cureus (2024)
Keywords: autoimmune disorders, autopsy, coronary vasculitis, inflammation, thymic hyperplasia
MeSH terms: Case Reports

A 43-year-old Asian woman was found unresponsive on the sidewalk, prompting a call to 911. Upon transportation to the hospital, no signs of trauma were evident, but her condition deteriorated, leading to her eventual passing. An autopsy revealed a complete occlusion of the right coronary artery due to segmental coronary artery vasculitis. Without details of the individual's social or medical history, the specific type of coronary vasculitis couldn't be determined. The internal examination also showed thymic hyperplasia of unknown origin. While there is no conclusive evidence, a potential link between thymic hyperplasia, immune dysregulation, and coronary artery vasculitis is discussed, considering the case and existing literature.