OpenMed/multicare-articles huggingface dataset:
Challenging Differential Diagnosis of Mandible Angle Metastasis from Breast Cancer
Authors: Francesca Spirito, Mariateresa Ambrosino, Federica Morrone, Roberto Duraccio, Lorenzo Lo Muzio, Antonio Della Valle
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Breast cancer is the most common cancer in women and the second leading cause of cancer-related death. Breast cancer manifestations in the head and neck are relatively rare, and they are mostly bony metastasis to the mandible and maxilla. In this paper, we present a case report of a metastatic tumor in the mandibular angle originating from breast carcinoma. A 32-year-old female patient with a paresthesia/anesthesia in the left mandibular area was referred to us to aid in the differential diagnosis between osteonecrosis and metastasis. Her medical history revealed a radical bimastectomy 3 years ago for invasive lobular carcinoma of the breasts. Additionally, she received chemotherapy and radiotherapy 3 years ago, and intravenous zoledronic acid was administered every 3 weeks. Intraoral examination did not reveal any mucosal ulcer or fistula, and there was no radiological evidence of cyst. The patient demonstrated good oral hygiene. Palpable regional left submandibular lymph nodes and a few swellings on the lateral angular mandibular surface were observed. Cone-beam computed tomography (CBCT) and positron emission tomography (PET) were performed. CBCT showed small poorly diffused radiopacity in proximity to the mandibular angle on both medial and lateral surfaces. PET showed fluoro-2-deoxy-D-glucose uptake in the mandible in the left angle surface area. Based on the patient's clinical history, signs, symptoms, and tomographic evidence, we were able to diagnose mandibular metastasis. This case also highlights the importance of proficiency in reading tomographic examinations, which can be carried out in dental clinics for various purposes. In the absence of symptoms, misdiagnosis can occur, underscoring the significance of accurate interpretation and diagnosis.
Epithelioid inflammatory myofibroblastic sarcoma treated with Alectinib: a case report and literature review
Authors: Xinchun Wu, Junxi Zhu, Yichao Yan, Dongfeng Niu, Lin Chen, Ning Ning, Yankai Zhang
Journal: Front Oncol (2024)
Keywords: alectinib, anaplastic lymphoma kinase, drug allergy, epithelioid inflammatory myofibroblastic sarcoma, inflammatory myofibroblastic tumor
MeSH terms: Case Reports

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is an extremely rare and aggressive form of inflammatory myofibroblastic tumor. Clinically, it has a high risk of relapse and peripheral organ infiltration, and it responds poorly to conventional chemotherapy. Anaplastic lymphoma kinase (ALK) inhibitors are currently the most effective targeted therapy for EIMS. This report discusses a typical case of abdominal EIMS in a 43-year-old woman. The tumors recurred rapidly within one month after surgery. Alectinib was promptly administered upon diagnosis. However, the patient developed a severe allergic reaction to the medication. After a comprehensive assessment and symptomatic treatment, her condition stabilized, leading to a favorable prognosis. This study summarizes cases of abdominal EIMS, highlights the successful use of Alectinib for treatment, and discusses the management of medication-related complications.
Case report: A girl with witnessed sleep apnea
Authors: Shuai Wu, Waner Wang, Fang Han, Liyue Xu
Journal: Front Neurol (2024)
Keywords: pfeiffer syndrome, central sleep apnea, obstructive sleep apnea, polysomnography, positive airway pressure
MeSH terms: Case Reports

Introduction:
Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis, broad thumbs and big toes, and partial syndactyly of the hands and feet. This case report presents the case of a girl diagnosed with type 2 Pfeiffer syndrome who experienced severe obstructive sleep apnea (OSA).
Case report:
The patient had been using an oropharyngeal airway since the age of 4 months due to snoring and witnessed apnea during sleep. At 11 months old, she was referred to our sleep clinic because of growth limitation and gross motor ability issues. Polysomnography (PSG) showed severe obstructive hypopnea before any treatment, and revealed severe central sleep apnea with the oropharyngeal airway in place. Positive airway pressure (PAP) therapy was initiated, which improved both her sleep and gross motor ability.
Conclusion:
This case report emphasizes the importance of thorough sleep studies for diagnosing sleep and breathing disorders in Pfeiffer syndrome patients and highlights the effectiveness of PAP therapy in managing these conditions.
Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo
Authors: S Mora-Martinez, Natalia Castaño-Giraldo, Humberto Alejandro Nati-Castillo, Laura Barahona Machado, Tatiana Mora Arbeláez, G Gordillo-Gonzalez, Juan S Izquierdo-Condoy
Journal: Front Pediatr (2024)
Keywords: pura syndrome, south america, diagnosis barriers, genetic, intellectual disability
MeSH terms: Case Reports

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.
Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome
Authors: Ying Zhang, Xiaolu Wang, Yuning Zhu, Chong Liang, Lijun Zhao, Qi Meng, Jiani C Yin, Yuqian Shi, Fufeng Wang, Feng Qin, Ji Xuan
Journal: Front Oncol (2023)
Keywords: ngs, pold1, pole, germline pold1 l606m, polyposis syndrome
MeSH terms: Case Reports

Germline variations in the DNA polymerase genes, POLE and POLD1, can lead to a hereditary cancer syndrome that is characterized by frequent gastrointestinal polyposis and multiple primary malignant tumors. However, because of its rare occurrence, this disorder has not been extensively studied. In this report, we present the case of a 22-year-old female patient who had been diagnosed with gastrointestinal polyposis, breast fibroadenoma, multiple primary colorectal cancers, and glioblastoma (grade IV) within a span of 4 years. Next-generation sequencing analysis revealed a germline variant in POLD1 (c.1816C>A; p.L606M). In silico analysis using protein functional predicting software, including SIFT, Polyphen, GERP++, and CADD, further confirmed the pathogenicity of POLD1 p.L606M (classified as ACMG grade Class 4). In line with polymerase deficiency, both rectal cancer and glioblastoma tissues exhibited a high tumor mutation burden, with 16.9 muts/Mb and 347.1 muts/Mb, respectively. Interestingly, the patient has no family history of cancer, and gene examination of both parents confirms that this is a de novo germline variant. Therefore, molecular screening for POLD1 may be necessary for patients with such a cancer spectrum, regardless of their family history.
Pneumatosis Intestinalis Manifesting as an Atypical Presentation of Crohn's Disease
Authors: Charles Vallejo, Yousra Gheit, Talwinder K Nagi, Zoilo K Suarez, Muhammad Haider, Touqir Zahra
Journal: Cureus (2024)
Keywords: crohn’s disease (cd), ct enteroscopy, double-balloon enteroscopy, infliximab, pneumatosis intestinalis
MeSH terms: Case Reports

Crohn's disease is an inflammatory bowel disease that has a bimodal distribution, occurring most frequently between ages 15 to 30 years and 40 to 60 years. It presents with a relapsing and remitting course. The most common area involved is the terminal ileum and right colon and the inflammation oftentimes leads to non-caseating granulomas and ulcerations in both the superficial mucosa and deeper layers. Additionally, pneumatosis intestinalis is defined as the presence of gas and free air in the extraluminal space of the intestines which is an abnormal occurrence and correlates with underlying pathology. There are only a few cases reported in the literature that present pneumatosis intestinalis in the setting of, and possibly linked to, Crohn's disease. Our case presents an elderly male patient with jejunal ulcerations and strictures suggesting Crohn's disease and associated pneumatosis intestinalis as evidenced on outpatient computed tomography (CT) enterography. Upon presentation to the hospital, the patient was non-toxic and was not complaining of any pain. During his inpatient stay, there was a suspicion of Crohn's disease and therefore he was started on Infliximab therapy. We will review the possible pathogenesis of Crohn's disease and other cases presenting pneumatosis intestinalis in the setting of Crohn's disease.
Listeria innocua infection in an old case of total knee replacement - an unusual case report
Authors: Minakshi Gupta, Uma Shankar Saha, Ritesh Kumar, Jayanta Laik, Minakshi Mishra
Journal: Access Microbiol (2024)
Keywords: listeria innocua, prosthetic implant infection, total knee replacement
MeSH terms: Case Reports

Prosthetic implant-associated arthritis due to Listeria is mostly reported for Listeria monocytogenes. Here, we describe a patient who underwent total knee replacement 12 years ago and presented with pain, tenderness, redness and local rise in temperature in the right knee. Purulent fluid was aspirated. Upon microbiological analysis, culture yielded Listeria innocua. L. innocua is rare. Listeria is not reported as a contaminant and routine cultures may be negative. Because of the long interval between surgery and the onset of symptoms, clinical suspicion, radiological investigations and analysing multiple samples are of immense help.
Extrauterine leiomyomas in uncommon locations: two case reports and literature review
Authors: Onur Yavuz, Ali Hakan Kula, Zeynep Bayramoğlu, Nur Yağ Mur Aydin, Kadir Alper Mankan, Aslı Akdöner
Journal: Front Med (Lausanne) (2024)
Keywords: bartholin's cyst, cystocele, leiomyosarcoma, vaginal cysts, vaginal leiomyoma, vulvar leiomyoma
MeSH terms: Case Reports

Objectives:
This study aims to provide an overview of the diagnosis, treatment, and follow-up management of vulvar and vaginal leiomyomas through the presentation of two rare cases.
Methods:
Detailed clinical presentations, surgical procedures, histopathological examinations, and follow-up outcomes of two cases of vulvar and vaginal leiomyomas are described. Relevant literature is also reviewed to contextualize the findings.
Results:
Both patients underwent successful surgical excision of the leiomyomas with no perioperative or postoperative complications. Histopathological examinations confirmed the diagnosis of leiomyoma based on characteristic microscopic features and immunohistochemical analyses.
Conclusion:
Vulvar and vaginal leiomyomas are rare benign tumors that require careful evaluation for accurate diagnosis and appropriate management. Surgical excision remains the primary treatment modality, and long-term follow-up is essential for monitoring recurrence and ensuring favorable outcomes.
Carbimazole-associated Pancreatitis: Report From Western India
Authors: Vyankatesh Shivane, Nihar Mehta, Ajay Jhaveri, Saba Samad Memon
Journal: JCEM Case Rep (2023)
Keywords: graves disease, carbimazole, pancreatitis
MeSH terms: Case Reports

Pancreatitis is a very rare complication of methimazole and carbimazole therapy. We describe a case of possible carbimazole-associated pancreatitis. A 41-year-old Asian man (with no comorbidities) reported to the hospital with atrial fibrillation and a fast ventricular rate. He was diagnosed with hyperthyroidism due to Graves disease. His rhythm was reverted with amiodarone, and carbimazole was initiated at 15 mg daily for the medical management of Graves disease. Fifteen days later, he presented with acute severe abdominal pain and vomiting with elevated serum amylase 387 U/L (reference range, 28-100 U/L) and lipase levels 206 U/L (reference range, 13-60 U/L). Magnetic resonance imaging showed a bulky pancreas with extensive extrapancreatic fat stranding suggestive of acute pancreatitis. Considering the possibility of carbimazole-related pancreatitis, the drug was withheld. He was managed conservatively, and his pancreatic enzymes normalized within 1 week. The observation suggests that the pancreatitis was a consequence of the therapy with carbimazole. Although it is a rare occurrence, patients taking carbimazole who report abdominal discomfort and vomiting should be evaluated for pancreatitis.
Case report: Immunotherapy inducing unexpected overall survival in choroidal melanoma: about a case
Authors: Youssef Elhaitmy, Soukaina El Anssari, Pierre Fournel, Nawfel Mellas, Wafa Bouleftour, Michele Lamuraglia
Journal: Front Oncol (2024)
Keywords: case report, choroidal melanoma, enucleation, hepatic metastases, immunotherapy
MeSH terms: Case Reports

Choroidal melanoma (CM) is the most common malignant ocular tumor in adults. The current treatment of metastatic CM is limited by the intrinsic resistance of CM to conventional systemic therapies. Immunotherapy alone or in association with cytotoxic treatment became a realist option treatment. Advancements in molecular biology have resulted in the identification of a number of promising prognostic and therapeutic targets. Herein, we report a rare case of 36-year-old patient with metastatic CM who presented a good long response to treatment with double immunotherapy reaching 3 years of overall survival, which has never been described in the literature.
Conservative management of an advanced external cervical resorption with internal approach using bio-ceramic materials: A case report
Authors: Sholeh Ghabraei, Behnam Bolhari, Nasim Hashemi, Hamidreza Gharehchahi
Journal: Clin Case Rep (2023)
Keywords: bio‐ceramic material, dental operating microscope, endodontic treatment, external cervical resorption, internal approach, one‐beam computed tomography
MeSH terms: Case Reports

Key clinical message:
A successful management of an advanced external cervical resorption using a conservative approach with CBCT, dental operating microscope, and a new bio-ceramic material.
Abstract:
External cervical resorption (ECR) is a pathologic condition that is initiated on the external aspect of the root, below the epithelial attachment in the cervical position. This article will report a case of external cervical resorption (ESR) in an advanced stage, which was asymptomatic and was incidentally detected in a follow-up radiograph after the end of orthodontic treatment. Cone-beam computed tomography (CBCT) was prescribed to accurately diagnose the resorptive lesion and differentiate it from internal root resorption (IRR), and the final diagnosis was Heithersay's class IV ECR. Considering the health of the periodontium and the absence of attachment loss, it was decided to use a conservative internal approach to the management of this case. After the treatment, the patient was asymptomatic and the radiographic examinations showed no signs of peri-radicular pathology during the follow-up period. With the correct case selection and the availability of the appropriate materials and equipment such as a dental operating microscope (DOM) and bio-ceramic materials, the internal approach can be a successful and minimally invasive treatment, even for the management of advanced ECR cases.
Case report: A large gastric calcifying fibrous tumor treated with endoscopic submucosal excavation
Authors: Ziyou Zhong, Zhenguo Li, Yufeng Xing, Shaoju Guo
Journal: Front Oncol (2024)
Keywords: calcifying fibrous tumor, case report, endoscopic submucosal excavation, stomach, submucosal tumor
MeSH terms: Case Reports

Gastric calcifying fibrous tumor (CFT) is a rare benign mesenchymal tumor. Several previous studies have reported surgical resection for gastric CFT larger than 20mm for the difficulty in preoperative diagnosis. Here, we report a rare case of large gastric CFT treated with endoscopic submucosal excavation (ESE). A 70-year-old woman presented with recurrent epigastric pain and underwent endoscopy, which revealed a 35mm-sized submucosal tumor in the gastric body. ESE was performed after imaging examination and endoscopic ultrasonography. En bloc resection was achieved, but due to the specimen's substantial size and difficulty in mincing, it posed challenges for removal through the mouth. Finally, the specimen was temporarily placed in the stomach and was completely removed two days later. The diagnosis was confirmed based on pathological and immunohistochemical findings. There was no recurrence during the patient's 11-month follow-up. We provided a case report related to the diagnosis and endoscopic treatment for large gastric CFT. In addition, our experience of temporarily leaving a large postoperative specimen, considered a benign lesion, in the stomach for later removal was successful but requires appropriate timing to avoid blockage of the gastrointestinal tract.
A case report of sustained remission after radiotherapy combined with ICI in NEPC with primary drug resistance to chemotherapy
Authors: Tengfei Li, Yanan Wang, Yueqiang Jiang, Zixi Wu, Zhiquan Hu, Zhihua Wang, Chunguang Yang
Journal: Front Oncol (2024)
Keywords: nepc, drug resistance, immune checkpoint inhibitor, prostate cancer, radiotherapy
MeSH terms: Case Reports

Advanced prostate cancer (PCa) is usually treated initially with androgen deprivation therapy (ADT). Although they experience a period of disease regression, most patients progress to metastatic castration-resistant prostate cancer (mCRPC). Patients with mCRPC now have an unprecedented number of approved treatment options, including chemotherapies, hormone therapies, targeted therapies, etc. However, the improvement of overall survival (OS) in patients with mCRPC and its special subtype neuroendocrine prostate cancer (NEPC) is limited. In recent years, with the use of immune checkpoint inhibitors (ICIs), such as PD1/PDL1 and CTLA4 inhibitors, immunotherapy has once again become a promising treatment choice to stimulate antitumor immunity. However, the efficacy of NEPC receiving ICI has not been reported. Here, we describe a patient with mCRPC who developed primary resistance to current endocrine and chemotherapy regimens and progressed to mCRPC with NEPC as the main component, showing a significant and lasting response to PD1 monoclonal antibody combined with radiotherapy.
Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene
Authors: Yimeng Zhou, Lin Zhang, Yang Ding, Yongzhen Zhai
Journal: Front Genet (2024)
Keywords: lipe, case report, diabetes mellitus, family partial lipodystrophy, hepatic steatosis, metabolic disorder
MeSH terms: Case Reports

Background:
Family partial lipodystrophy (FPLD) is a rare autosomal dominant disease characterized by disorders of variable body fat loss associated with metabolic complications. FPLD6 has only been reported in a limited number of cases. Here, we reported a Chinese FPLD6 patient with compound heterozygous mutations in the lipase E, hormone-sensitive type (LIPE) gene.
Case presentation:
A 20-year-old female patient presented with hypertriglyceridemia, diabetes mellitus, hepatomegaly, and hepatic steatosis. Subcutaneous fat was significantly diminished in her face, abdomen, and limbs. The patient was assessed by detailed clinical and biochemical examinations. A liver biopsy showed severe lipodystrophy. In addition, there were retinal changes, peripheral nerve damage, and renal tubular injury. Sequencing was performed on extracted DNA. Genetic analysis revealed that the patient had compound heterozygous mutations in the LIPE gene: c.2497_250ldel (p.Glu833LysfsTer22) and c.2705del (p.Ser902ThrfsTer27) heterozygous mutations. Verification revealed that this mutation was inherited from her father and mother, respectively, and that they formed newly discovered compound heterozygous mutations occurring in the LIPE gene, causing FPLD6.
Conclusion:
We reported the first case of FPLD6 in China. Gene analysis demonstrated compound heterozygous mutations in LIPE in this patient. Our case emphasizes the importance of genetic testing in young patients with severe metabolic syndromes.
Application of an Endodontic Static Guide in Fiber Post Removal from a Compromised Tooth
Authors: Mehran Farajollahi, Omid Dianat, Samaneh Gholami, Shima Saber Tahan
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Removing a fiber post from a root canal that requires endodontic retreatment is often very challenging. Conventional freehand techniques for removing fiber posts are time-consuming, sometimes result in iatrogenic errors, and heavily rely on the practitioner's experience. The endodontic static guide can be an alternative method. While the use of an endodontic 3D-printed static guide for fiber post removal has been reported as highly successful, it can also cause complications. Skipping any critical steps during the guide construction or its clinical application can lead to errors. This case report presents the saving of a compromised tooth with a fractured fiber post and a periapical lesion around the apex through the use of an endodontic static guide for fiber post removal. This study describes possible sources of error that may happen during construction and clinical use of the guide.
A rare case of massive intrapartum hemorrhage followed by inner myometrial laceration during a vaginal delivery: A case report
Authors: Bahareh Khakifirooz, Arian Shojaei, Amirhossein Hajialigol
Journal: Clin Case Rep (2024)
Keywords: increased intrauterine pressure, inner myometrial laceration, intrapartum hemorrhage, labor
MeSH terms: Case Reports

Key clinical message:
Considering the laceration of the inner layer of the myometrium as an important and controllable cause of bleeding during childbirth can lead to saving the mother's life.
Abstract:
Laceration of the inner layer of the myometrium can cause massive bleeding during and after childbirth, which can lead to the death of the mother if it is not diagnosed in time.we presented a rare case of massive intrapartum bleeding following myometrial laceration that diagnosed correctly and the patient survived with in-time treatments. The patient was a 26-year-old woman who was under observation for term pregnancy and complaint of rupture of membranes (ROM) and vaginal bleeding. Following the spontaneous course of labor and without receiving oxytocin, during the normal course of labor, she was with an estimated total blood loss of 750 mL bleeding, which despite the normal fetal heart rate and with the mother's indication for cesarean section, was transferred to the operating room and underwent cesarean section. During the cesarean section, the amniotic fluid was clear, after the removal of the placenta, severe and clear bleeding was flowing from the posterior wall of the uterus, which was caused by the laceration of the inner layer of the myometrium in the posterior wall of the lower segment of the uterus. The myometrial laceration was repaired with absorbable continuous locked sutures and hemostasis was established, and then the patient used uterotonic drugs, and after monitoring, the patient was discharged from the hospital in good condition.