OpenMed/multicare-articles huggingface dataset:
Triple-negative accessory breast cancer occurring concurrently with primary invasive breast carcinoma: a case report
Authors: Ling Chen, Zujian Wu, Chi Guo, Hengjin Wan, Shouguo Wu, Guoping Wang
Journal: Front Surg (2024)
Keywords: accessory breast cancer, binary breast cancer, case report, radical mastectomy, triple-negative breast cancer
MeSH terms: Case Reports

Introduction:
Accessory breast cancer (ABC) is an extremely rare condition, particularly the presence of triple-negative ABC with ipsilateral invasive in situ breast cancer. Binary breast tumors are controversial in terms of surgical methods and comprehensive treatment.
Case presentation:
We share the case of a 64-year-old postmenopausal woman who presented with an underarm mass for 3 months. Ultrasonography and computed tomography suggested possible breast cancer with axillary lymph node metastasis. The patient underwent a left modified radical mastectomy combined with axillary lymph node dissection. The postoperative pathology confirmed a binary tumor, prompting us to initiate comprehensive treatment.
Conclusion:
We present the treatment approach for a rare case of triple-negative para-breast cancer complicated with carcinoma in situ of the breast, hoping to contribute new therapeutic ideas for the treatment of this disease.
Emergency Resection of a Bleeding Ruptured Malignant Phyllodes Tumor of the Breast
Authors: Hirokazu Matsushima, Masayuki Kikuchi, Rika Miyabe, Koji Atsuta, Tsunehiro Shintani
Journal: Cureus (2024)
Keywords: active bleeding, breast mass, emergency surgery, phyllodes tumor, ruptured tumor
MeSH terms: Case Reports

Ruptured phyllodes tumors, though extremely rare, can necessitate emergency surgery in certain cases, particularly those with active bleeding. A 51-year-old woman presented to our hospital with a newly identified mass in her right breast that developed over the past two months. The tumor had ruptured through the paramammary nipple. While initially diagnosed with a phyllodes tumor and scheduled for elective surgery, she experienced active bleeding from the ruptured tumor, leading to a drop in hemoglobin levels. An emergency right simple mastectomy was performed to control the bleeding. Postoperatively, no complications or recurrences were observed. Phyllodes tumors, which are characterized by rapid growth, may present with active bleeding following rupture and may require emergency surgery.
Adult ovarian and sellar region mixed germ cell tumor: a case report and literature review
Authors: Dawei Chen, Anling Zhang, Kun Xue, Shuyu Liu, Xu Yan
Journal: Front Oncol (2024)
Keywords: alphafetoprotein, endoscopic surgery, mixed germ cell tumors, ovarian tumor, sellar region tumor
MeSH terms: Case Reports

Mixed germ cell tumors (mGCTs) involving both the ovaries and sellar region have been rarely reported; thus, they pose significant challenges in clinical management. Our report of a case of a 26-year-old female with left ovarian mGCTs (dysgerminoma + yolk sac tumor) who presented with postoperative headaches and blurred vision contributes new information to the literature on treating mGCTs, which can lead to standardized regimens and sequencing guidelines. A physical examination revealed right temporal hemianopia, and elevated levels of alpha-fetoprotein were detected in serum and cerebrospinal fluid. Magnetic resonance imaging (MRI) of the sellar region revealed a space-occupying lesion. Pathological examination of the tumor after endoscopic transnasal resection confirmed the diagnosis of mGCTs (germinomas + yolk sac tumor). The patient received adjuvant chemotherapy and radiotherapy at reduced dosages. During follow-up, tumor markers remained within normal limits, and there was no evidence of tumor recurrence on sellar region MRI. This case highlights the rarity of the simultaneous occurrence of ovarian and sellar region mGCTs and emphasizes the importance of accurate diagnosis and multidisciplinary management.
Maxillary Postsurgical Ciliated Cysts (PSCCs): A Series of Three Cases
Authors: Domenico Sfondrini, Fabio Pagella, Matteo Pellegrini, Martina Ghizzoni, Andrea Scribante, Chiara Tore, Stefano Marelli
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Introduction:
A postsurgical ciliated cyst (PSCC) is an epithelial cyst that usually develops in the maxilla, although in rare cases, it can affect the mandible or other facial bones. The typical age of diagnosis is 40-50 years, with no gender prevalence, and the mean cyst development occurs approximately 10-15 years following a surgical or traumatic event. Some epithelial respiratory cells can be trapped into the bone tissue during maxillary surgical procedures or maxillary fractures. The pathogenetic mechanism can be attributed to an inflammatory process that stimulates epithelial proliferation, leading to cyst expansion caused by osmotic pressure difference.
Methods:
This study presents case series involving three surgical ciliated cysts located in the left maxilla, affecting two female patients (aged 49 and 55 years) and one male patient (aged 39 years). In all three cases, symptoms such as pain or swelling were mild and not consistently present. Two cases showed cyst development 10 and 15 years after implant placement, while one case was not associated with any surgical or traumatic event. CT scan identified well-defined unilocular lesions in the maxillary bone in each patient.
Results:
Histopathological examination of the surgical specimens confirmed the suspected diagnosis of a PSCC of maxilla. The cystic walls consisted of fibrous connective tissue with chronic inflammatory infiltrate, lined exclusively by a thin layer of ciliated pseudostratified columnar epithelium. In the third patient, it was not possible to rule out an unusual radicular cyst.
Conclusions:
Although PSCCs are not commonly encountered in daily practice, clinicians should consider this possibility including it in the differential diagnosis of odontogenic jaw cysts and benign jaw tumors, particularly in patients who have undergone previous surgeries in the maxillary area.
Diagnostic Challenges in Adult Intestinal Malrotation: A Case Report and Literature Review
Authors: Chirwa Abdillahi Mahamoud, Abdoulrazak Egueh Nour, Nawal Bouknani, Najwa Benslima, Amal Rami
Journal: Cureus (2024)
Keywords: adult intestinal malrotation, computed tomography, congenital abnormalities, intestine, pancreas abnormalities, small abnormalities
MeSH terms: Case Reports

Adult intestinal malrotation is a rare anatomical anomaly that typically manifests during infancy but can also present in adulthood. Symptoms are mainly digestive, with a long history of intermittent abdominal pain and epigastralgia. It often presents a diagnostic challenge due to the varied and nonspecific nature of clinical symptoms. Radiological evaluations reveal diverse patterns of malrotation, including incomplete rotation, mesenteric base abnormalities, and associated malformations. Computed tomography (CT) scans consistently identify characteristic anatomical distortions, aiding in accurate diagnosis. In this context, we present a unique case in which contrast-enhanced CT of the abdomen, initially conducted to investigate a suspected episode of acute pancreatitis accompanied by epigastralgia, fortuitously revealed the presence of intestinal malrotation. Once the diagnosis has been made, the therapeutic approach is based on monitoring or managing complications such as intestinal obstruction. Early recognition and accurate radiological assessment of intestinal malrotation play an essential role in establishing the diagnosis and guiding appropriate management strategies. Increased awareness among clinicians and radiologists is essential to avoid delays in diagnosis and the potential complications associated with this entity.
Perspectives on the semantics/pragmatics debate: insights from aphasia research
Authors: Roberto Graci, Alessandro Capone
Journal: Front Psychol (2023)
Keywords: aphasia, communication, pragmatic enrichments, semantics/pragmatics debate, sociocultural pragmatics

In the philosophy of language, there are many ongoing controversies that stem from relying too heavily on an utterance-based framework. The traditional approach of rigidly partitioning the utterance's meaning into what is grammatically determined from what is not may not fully capture the complexity of human language in real-world communicative contexts. To address this issue, we suggest shifting focus toward a broader analysis level encompassing conversations and discourses. From this broader perspective, it is possible to obtain a more integrated view of how linguistic and extra-linguistic aspects dynamically interact and thus reconsider semantics/pragmatics dichotomy as complementary dimensions. Meaning is not confined to linguistic structures alone but emerges from the dynamic interplay of words, sociocultural knowledge, discursive situations, and psychological dispositions of speakers. Substantiating this perspective calls for embracing an interdisciplinary approach that synthesizes research from various domains, including linguistics, cognitive psychology, and philosophy of language. This paper focuses on a particularly compelling case study: aphasia. Speeches produced by individuals with aphasia represent complex scenarios where the balance between linguistic and extra-linguistic aspects is notably compromised, often to the former's detriment. Aphasics' productions represent a vivid example of how the interpretation of speeches can be far from involving fixed and static operations. Instead, it entails continuously reallocating cognitive resources toward the most readily available and accessible sources for the speakers. This case study ultimately demonstrates that the influence of semantic and pragmatic processes in shaping and conveying meanings displays remarkable adaptability, continuously adjusting to the ever changing demands placed upon speakers.
Post-SARS-CoV-2 infection and post-vaccine-related neurological complications share clinical features and the same positivity to anti-ACE2 antibodies
Authors: Margherita Bellucci, Federica Maria Bozzano, Chiara Castellano, Giampaola Pesce, Alessandro Beronio, Alireza Hajabbas Farshchi, Alessandro Limongelli, Antonio Uccelli, Luana Benedetti, Andrea De Maria
Journal: Front Immunol (2024)
Keywords: covid-19, pacs, pcvs, anti-ace2 antibodies, anti-idiotype antibodies
MeSH terms: Angiotensin-Converting Enzyme 2 / immunology, Autoantibodies / blood, Autoantibodies / immunology, COVID-19 / immunology, SARS-CoV-2 / immunology, Case Reports, Adult, Aged, Antibodies, Anti-Idiotypic / immunology, COVID-19 Vaccines / adverse effects, COVID-19 Vaccines / immunology, Female, Guillain-Barre Syndrome / etiology, Guillain-Barre Syndrome / immunology, Humans, Male, Middle Aged, Nervous System Diseases / etiology, Nervous System Diseases / immunology, Post-Acute COVID-19 Syndrome, Vaccination / adverse effects, Autoantibodies, Angiotensin-Converting Enzyme 2, ACE2 protein, human, COVID-19 Vaccines, Antibodies, Anti-Idiotypic

Introduction:
A potential overlap in symptoms between post-acute COVID-19 syndrome and post-COVID-19 vaccination syndrome has been noted. We report a paired description of patients presenting with similar manifestations involving the central (CNS) or peripheral nervous system (PNS) following SARS-CoV-2 infection or vaccination, suggesting that both may have triggered similar immune-mediated neurological disorders in the presence of anti-idiotype antibodies directed against the ACE2 protein.
Patients and methods:
Four patients exhibited overlapping neurological manifestations following SARS-CoV-2 infection or vaccination: radiculitis, Guillain-Barré syndrome, and MRI-negative myelitis, respectively, sharing positivity for anti-ACE2 antibodies. Autoantibodies against AQP-4, MOG, GlyR, GAD, and amphiphysin, onconeural antibodies for CNS syndromes, and anti-ganglioside antibodies for PNS syndromes tested negative in all patients.
Discussion:
Anti-idiotype antibodies against ACE2 have been detected in patients who recovered from COVID-19 infection, and it has been hypothesized that such antibodies may mediate adverse events following SARS-CoV-2 infection or vaccination, resulting in the activation of the immune system against cells expressing ACE2, such as neurons. Our data reveal clinically overlapping syndromes triggered by SARS-CoV-2 infection or vaccination, sharing positivity for anti-ACE2 antibodies. Their presence, in the absence of other classic autoimmune markers of CNS or PNS involvement, suggests that they might play an active role in the context of an aberrant immune response.
Conclusion:
Anti-idiotype antibodies directed against ACE2 may be triggered by both SARS-CoV-2 infection and vaccination, possibly contributing to neurological autoimmune manifestations. Their pathogenic role, however, remains to be demonstrated in large-scale, more structured studies.
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report
Authors: Bin Xin, Haiming Chen, Tianyi Liu, Yue Wu, Qingyang Hu, Xue Dong, Zhong Li
Journal: Mol Genet Genomic Med (2024)
Keywords: fbp1 gene, fructose-1,6-bisphosphatase (fbpase) deficiency, hypoglycemia, mutation
MeSH terms: Acidosis, Lactic / genetics, Fructose-1,6-Diphosphatase Deficiency / diagnosis, Fructose-1,6-Diphosphatase Deficiency / genetics, Hypoglycemia / genetics, Case Reports, Child, Fructose-Bisphosphatase / genetics, Fructose-Bisphosphatase / metabolism, Humans, Male, Mutation, Fructose-Bisphosphatase

Background:
Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessively inherited metabolic disorder characterized by impaired gluconeogenesis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear.
Methods:
We report a pediatric patient with typical FBPase deficiency who presented with hypoglycemia, hyperlactatemia, metabolic acidosis, and hyperuricemia. Whole-exome sequencing was used to search for pathogenic genes, Sanger sequencing was used for verification, and molecular dynamic simulation was used to evaluate how the novel mutation affects FBPase activity and structural stability.
Results:
Direct and allele-specific sequence analysis of the FBP1 gene (NM_000507) revealed that the proband had a compound heterozygote for the c. 490 (exon 4) G>A (p. G164S) and c. 861 (exon 7) C>A (p. Y287X, 52), which he inherited from his carrier parents. His father and mother had heterozygous G164S and Y287X mutations, respectively, without any symptoms of hypoglycemia.
Conclusion:
Our results broaden the known mutational spectrum and possible clinical phenotype of FBP1.
Anomalous pulmonary venous drainage due to malposition of septum primum: two case reports and literature review
Authors: Yan Yang, Jianshe Zhao, Chunhua Dong, Minggang Yi, Xin Gao
Journal: Front Pediatr (2024)
Keywords: imaging, malposition, pulmonary veins, right atrium, septum primum
MeSH terms: Case Reports

Background:
Anomalous pulmonary venous connection with malposition of septum primum (MSP) is a rare pediatric cardiovascular malformation. Although reports in the literature are scarce, accurate pre-operative imaging diagnosis is crucial for selecting the appropriate clinical intervention and determining the prognosis for affected children.
Case description:
In both case reports, the cardiovascular malformations were incidental findings. In the second case, an enlarged cardiac silhouette was observed on chest x-ray due to pneumonia, which was subsequently confirmed by ultrasound. Combined with computed tomography angiography examination, the diagnosis of MSP-type anomalous pulmonary venous connection was established.
Conclusions:
Comprehensive imaging examinations are essential in reducing misdiagnosis and achieving an accurate diagnosis of MSP-type anomalous pulmonary venous connection. The typical imaging findings for MSP-type anomalous pulmonary venous connection include absence or hypoplasia of the superior limbic band of the septum secundum, leftward displacement of the septum primum, and partial or total pulmonary vein drainage into the anatomical right atrium.
Spontaneous Hyphema during Ibrutinib Treatment in a CLL Patient
Authors: Kim Abbegail Tan Aldecoa, Chef Stan L Macaraeg, Akash Dadlani, Sri Yadlapalli
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Ibrutinib is an oral, first-line, targeted therapy for chronic lymphocytic leukemia (CLL). Commonly reported adverse events are diarrhea, fatigue, and musculoskeletal pain, but rarely it has been associated with visual disturbances. Here, we present a rare case of spontaneous hyphema in a 60-year-old patient with a known diagnosis of CLL on ibrutinib treatment.
Simultaneous occurrence of two distinct histotypes of ovarian endometriosis-associated cancer in bilateral ovaries: implications for monoclonal histogenesis from a case report
Authors: Luyang Zhao, Yunyue Liu, Feng Liu, Xiangshu Jin, Jia Xu, Shuting Zhou, Yuanguang Meng, Aijun Liu, Weng Yang
Journal: Front Oncol (2023)
Keywords: clear cell ovarian cancer, endometrioid ovarian cancer, endometriosis, endometriosis-associated ovarian cancer, eutopic endometrium
MeSH terms: Case Reports

Background:
Transformation of endometriosis to malignancy is a rare occurrence. Clear cell ovarian cancer and endometrioid ovarian cancer are the two histotypes most consistently linked to endometriosis. The exact pathways leading to malignant transformation of endometriosis remain elusive.
Case presentation:
A 41-year-old woman presented to our hospital with a ten days history of abdominal pain which was not responsive to medication. Pathological examination revealed an unexpected finding of bilateral endometriosis associated with distinct malignancies: a clear cell carcinoma in the right ovary and a well-differentiated endometrioid carcinoma in the left ovary. Molecular analysis indicated a shared somatic driver mutation in ING1 in the eutopic endometrium and the bilateral ovaries while simultaneously exhibiting specific genetic alterations unique to each carcinoma. Notably, several common mutation sites were also identified, including previously reported common oncogenes (KRAS, PIK3CA, ARID1A). This finding prompts the hypothesis of a possible monoclonal origin of the two tumours.
Conclusion:
This case represents an exceedingly rare occurrence of two different histotypes of ovarian endometriosis-associated cancer manifesting simultaneously in bilateral ovaries. Based on genetic analysis, we hypothesize that these malignancies may have a monoclonal origin, providing insights into understanding the different biological mechanisms underlying carcinogenesis.
Pediatric puzzle: Large ovarian dermoid cyst and markedly elevated CA 19-9 in an 8-year-old
Authors: Muhamed Ahmed Abdelmoaty, Wael Soliman Taha
Journal: Qatar Med J (2024)
Keywords: ca-19-9 antigen, dermoid cyst, cystic, ovarian, teratoma, ultrasonography
MeSH terms: Case Reports

Background:
Mature cystic teratomas, also known as dermoid cysts, are the most prevalent form of ovarian germ cell tumors. While they typically manifest in women of reproductive age, they can also occur in pediatric patients. These tumors are generally benign and comprise a diverse array of tissue types. However, large lesions, particularly those exceeding 10 cm in diameter, are infrequent and can present diagnostic and therapeutic challenges. Notably, elevated tumor markers, such as cancer antigen 19-9 (CA 19-9), are not commonly associated with mature cystic teratomas, rendering this case particularly unusual.
Case presentation:
The clinical case involved an 8-year-old female patient who presented with an exceptionally large ovarian teratoma, measuring 13 × 12 cm. While the prepubertal presentation of such tumors is not uncommon, the remarkable size of the lesion was an extraordinary occurrence. Preoperative evaluation revealed markedly elevated levels of CA 19-9, a tumor marker, at 297 U/mL-an atypical finding for mature cystic teratomas. Imaging studies identified a complex cystic adnexal mass, indicative of a teratoma. Consequently, a laparotomy was performed, revealing an intact, benign lesion that was successfully resected via cystectomy, with preservation of the ovary. Histopathological examination confirmed the diagnosis of a mature cystic teratoma, without any evidence of malignant transformation. Notably, following the surgical intervention, the elevated CA 19-9 levels normalized, suggesting a potential association between the teratoma and the abnormal tumor marker levels.
Discussion:
This report delineates the surgical management and clinical course of an exceptionally large ovarian teratoma in a pediatric patient with abnormal preoperative tumor markers. Despite atypical features, the excellent prognosis following fertility-sparing resection underscores the significance of conservative treatment in young females.
Conclusion:
This case highlights the occurrence of a large mature cystic teratoma with elevated CA-19-9 in a pediatric patient with no complications such as torsion, rupture, or malignancy. The elevation in CA-19-9 likely relates directly to the teratoma itself. A conservative, fertility-sparing surgical approach proved effective, emphasizing the importance of careful preoperative evaluation and management in similar cases.
Case Report: Neo-ostium creation with saphenous vein in a patient with anomalous origin of the right coronary artery
Authors: Bahar Temur, Zeynep Sıla Özcan, Serdar Başgöze, Selim Aydın, Füsun Güzelmeriç, Ersin Erek
Journal: Front Pediatr (2023)
Keywords: anomalous right coronary artery, congenital heart disease, congenital heart surgery, coronary artery anomaly, coronary artery imaging
MeSH terms: Case Reports

Anomalous origin of the right coronary artery from the left sinus of Valsalva is a rare congenital anomaly. Most patients may be asymptomatic, but some may experience major cardiac events such as syncope, arrhythmias, and sudden cardiac death. We present a 16-year-old patient, who had several syncopes, with anomalous origin of the right coronary artery from the left coronary sinus, with an intramural and interarterial course between the pulmonary artery and the aorta. We describe a new surgical procedure of neo-ostium creation with a saphenous vein.
MRI Manifestations of Primary Intraspinal Synovial Sarcoma: A Case Report
Authors: Yujie Peng, Xiangxin Zeng, Yong Du
Journal: J Belg Soc Radiol (2023)
Keywords: mri, spinal canal, synovial sarcoma (ss)
MeSH terms: Case Reports

Synovial sarcomas represent a highly malignant form of mesenchymal tumors. The incidence of synovial sarcomas in the spinal canal is exceptionally rare and has been scarcely reported.
Teaching point:
Comprehending the magnetic resonance imaging manifestations of intraspinal synovial sarcoma is important to prevent misdiagnosis.
Ureterocolic Fistula Involving a Native Kidney and the Sigmoid Colon in a Renal Transplant Recipient
Authors: Fae B Kayarian, Sarah Dynia, Anne P Timmermann, Jennifer Lee, Oyedolamu Olaitan
Journal: Cureus (2024)
Keywords: native kidney, native ureter, renal transplant, sigmoid colon, ureterocolic fistula
MeSH terms: Case Reports

A ureterocolic fistula in a renal transplant patient is a rare complication. Even rarer is a ureterocolic fistula involving a native kidney in a patient with a functional, ipsilateral transplanted kidney, with no prior cases published in the English literature. In the current case report, we describe a patient with a previously successful right renal transplant, who presented three years later with a ureterocolic fistula involving the right native kidney and the sigmoid colon.