OpenMed/multicare-articles huggingface dataset:
Dedifferentiated liposarcoma arising in an esophageal polyp: a case report
Authors: Jorge Torres-Mora, Ann Moyer, Mark Topazian, Jeffrey Alexander, Tsung-Teh Wu, Amber Seys, Karen Fritchie
Journal: Case Rep Gastrointest Med (2012)

Liposarcoma is one of the most common sarcomas in adults, but only rarely presents as an esophageal primary. There have been several reports of well-differentiated liposarcoma (WDL) arising in the esophagus, but we present a case of dedifferentiated liposarcoma (DL) presenting as a large esophageal polyp. We believe this is the first reported case of DL of the esophagus with morphologic evidence of both well-differentiated and dedifferentiated components. The diagnosis was confirmed by demonstration of CPM gene amplification by fluorescence in situ hybridization (FISH).
Hepatic Sarcodosis presenting as portal hypertension in a young boy
Authors: Inamullah Khan Achakzai, Zain Majid, Muhammad Ali Khalid, Shoaib Ahmed Khan, Syed Mudassir Laeeq, Nasir Hassan Luck
Journal: Gastroenterol Hepatol Bed Bench (2018)
Keywords: hepatic sarcoidosis, serum ace levels, chronic granulomatous disease, steroids
MeSH terms: Case Reports

A 13-year-old boy, known case renal stone disease came with the complaints of abdominal pain along with low grade fever. On examination, hepatosplenomegaly was noted while his lab reports showed a low hemoglobulin with a raised ESR. His blood and urine cultures showed no growth. Viral markers, autoimmune profile, C and p ANCA were all negative apart from a raised serum IgG level. Ultrasound abdomen showed a hyperechoic liver with an enlarged spleen along with splenic varices and minimum ascites. Ultrasound hepatic doppler was normal. Serum AFP levels were normal while workup for Wilson's disease was negative. Fibroscan showed F4 fibosis. CT scan abdomen showed an enlarged left lobe of the liver along with an enlarged spleen. His EGD revealed varices. So liver biopsy was done that was suggestive of chronic granulomatous disease with ZN stain testing negative for TB.PPD, urine for AFB were both negative. Serum ACE levels were raised. He started ATT therapy but his condition did not improve. So, on the suspicion of hepatic sarcoidosis, he started on steroids and had a drastic improvement in his condition.
Amyloid β-Related Angiitis Causing Coma Responsive to Immunosuppression
Authors: Shennan A Weiss, David Pisapia, Stephan A Mayer, Joshua Z Willey, Kiwon Lee
Journal: Case Rep Pathol (2012)

Introduction. Amyloid-beta-related angiitis (ABRA) is a form of CNS vasculitis in which perivascular beta-amyloid in the intracerebral vessels is thought to act as a trigger for inflammation mediated by CD68+ macrophages and CD3+ T lymphocytes. Patients with severe ABRA may develop coma responsive to immunosuppressive treatment. Case Presentation. A 57-year-old man presented to the neurological intensive care unit febrile, obtunded, and with a left hemiparesis. He had suffered from intermittent left arm weakness and numbness for several months prior. Serum and cerebrospinal fluid studies showed a lymphocytic leukocytosis in the cerebrospinal fluid (CSF), but no other evidence of infection, and the patient underwent a brain biopsy. Histopathological examination demonstrated amyloid angiopathy, with an extensive perivascular lymphocytic infiltrate, indicative of ABRA. The patient was started on cyclophosphamide and steroids. Following a week of treatment he awakened and over several weeks made a significant neurological recovery. Conclusions. ABRA can have a variety of clinical presentations, including impairments in consciousness and coma. Accurate pathological diagnosis, followed by aggressive immunosuppression, can lead to impressive neurological improvements. This diagnosis should be considered in patients with paroxysmal recurrent neurological symptoms and an accelerated progression.
Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia
Authors: Yu Peng, Yu Zheng, Zifeng Deng, Shuju Zhang, Yilan Tan, Zhengmao Hu, Lijuan Tao, Yulin Luo
Journal: Front Genet (2022)
Keywords: crygc, congenital cataract, crystallin, microphthalmia, whole-exome sequencing
MeSH terms: Case Reports

Background: Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department. The current study aims to identify the genetic defects in a congenital cataract patient without a family history. Case presentation: A congenital cataract patient with microphthalmia and nystagmus was recruited for this study. Trio-based whole-exome sequencing revealed a de novo variant (c.394delG, p.V132Sfs*15) in CRYGC gene. According to the American College of Medical Genetics and Genomics (ACMG) criteria, the variant could be annontated as pathogenic. Conclusion: Our findings provide new knowledge of the variant spectrum of CRYGC gene and are essential for understanding the heterogeneity of cataracts in the Chinese population.
Case Report: Deep Brain Stimulation of the Nucleus Basalis of Meynert for Advanced Alzheimer's Disease
Authors: Wei Zhang, Wei Liu, Bhavana Patel, Yingchuan Chen, Kailiang Wang, Anchao Yang, Fangang Meng, Aparna Wagle Shukla, Shanshan Cen, John Yu, Adolfo Ramirez-Zamora, Jianguo Zhang
Journal: Front Hum Neurosci (2021)
Keywords: alzheimer's disease, mini-mental state examination, deep brain stimulation, nucleus basalis of meynert, thermoregulatory disturbance
MeSH terms: Case Reports

Patients with advanced Alzheimer's disease (AD) experience cognitive impairment and physical disabilities in daily life. Currently, there are no treatments available to slow down the course of the disease, and limited treatments exist only to treat symptoms. However, deep brain stimulation of the nucleus basalis of Meynert (NBM-DBS) has been reported to improve cognitive function in individuals with AD. Here, we report the effects of NBM-DBS on cognitive function in a subject with severe AD. An 80-year-old male with severe AD (Clinical Dementia Rating scale: 3.0 points) underwent surgery for bilateral NBM-DBS electrode placement. After 10 weeks of stimulation, Mini-Mental State Examination (MMSE) assessment improved from a score of 5 to 9 points, and assessment using the Alzheimer's Disease Assessment Scale-Cognitive Subscale (ADAS-cog) showed a marked reduction in total score from 43 to 33 points, suggesting cognitive benefits from NBM-DBS. The patient's postoperative course was complicated by a subdural effusion that occurred several days after surgery, with complete recovery. Interestingly, the subject also displayed abnormal thermoregulation with stimulation initiation and stimulation parameter modifications. NBM-DBS may serve as a potential therapy for severe AD patients. Clinical Trial Registration: ChiCTR1900022324.
Fever of Unknown Origin, Wasting Syndrome and Bone Marrow Involvement: A Leprosy Case Report
Authors: Marcela Araujo de Oliveira Santana, Willian Vargas Tenório da Costa, Isadora Costa Celestino, Diogo Fernandes Dos Santos, Bruno de Carvalho Dornelas, Matthew Martin Pavelka, Andrea De Martino Luppi, Isabela Maria Bernardes Goulart
Journal: Front Immunol (2022)
Keywords: bone marrow, case report, fever of unknown origin, lepromatous leprosy, neuropathy
MeSH terms: Fever of Unknown Origin, Leprosy / diagnosis, Leprosy / microbiology, Wasting Syndrome, Case Reports, Research Support, Non-U.S. Gov't, Adult, Bone Marrow, Cachexia, Humans, Male, Mycobacterium leprae

Mycobacterium leprae, the etiologic agent of leprosy, is an acid-fast-staining and slow-growing bacilli that infect macrophages and Schwann cells individually or through forming globi. The clinical presentation of leprosy is broad and depends on the host immune response. We report a case of a 42-year-old Brazilian man presenting with fever of unknown origin (FUO), anemia, wasting syndrome, and neuropathy. The diagnosis of lepromatous leprosy was made after an extensive investigation revealed the presence of M. leprae in the bone marrow. Bone marrow involvement in leprosy is rare and some authors believe the presence of M. leprae in the bone marrow can act as a reservoir of the disease facilitating future relapses. It is important to investigate bone marrow involvement in leprosy, especially when the patient presents with cytopenias and positive epidemiologic history.
Construction and Analysis of Molecular Association Network by Combining Behavior Representation and Node Attributes
Authors: Hai-Cheng Yi, Zhu-Hong You, Zhen-Hao Guo
Journal: Front Genet (2019)
Keywords: association prediction, data analysis, graph embedding, machine learning, mirna-disease association, network biology

A key aim of post-genomic biomedical research is to systematically understand and model complex biomolecular activities based on a systematic perspective. Biomolecular interactions are widespread and interrelated, multiple biomolecules coordinate to sustain life activities, any disturbance of these complex connections can lead to abnormal of life activities or complex diseases. However, many existing researches usually only focus on individual intermolecular interactions. In this work, we revealed, constructed, and analyzed a large-scale molecular association network of multiple biomolecules in human by integrating associations among lncRNAs, miRNAs, proteins, drugs, and diseases, in which various associations are interconnected and any type of associations can be predicted. We propose Molecular Association Network (MAN)-High-Order Proximity preserved Embedding (HOPE), a novel network representation learning based method to fully exploit latent feature of biomolecules to accurately predict associations between molecules. More specifically, network representation learning algorithm HOPE was applied to learn behavior feature of nodes in the association network. Attribute features of nodes were also adopted. Then, a machine learning model CatBoost was trained to predict potential association between any nodes. The performance of our method was evaluated under five-fold cross validation. A case study to predict miRNA-disease associations was also conducted to verify the prediction capability. MAN-HOPE achieves high accuracy of 93.3% and area under the receiver operating characteristic curve of 0.9793. The experimental results demonstrate the novelty of our systematic understanding of the intermolecular associations, and enable systematic exploration of the landscape of molecular interactions that shape specialized cellular functions.
KBG syndrome mimicking genetic generalized epilepsy
Authors: M J Murphy, N McSweeney, G L Cavalleri, M T Greally, K A Benson, D J Costello
Journal: Epilepsy Behav Rep (2022)
MeSH terms: Case Reports

•Several conditions may mimic Genetic Generalized Epilepsy GGE.•GGE is less frequently misdiagnosed compared to other subtypes of epilepsy.•KBG syndrome is a rare autosomal dominant condition.•KBG syndrome may mimic GGE.
Tumor Reduction with Pazopanib in a Patient with Recurrent Lumbar Chordoma
Authors: Maurício Fernando Silva Almeida Ribeiro, Micelange Carvalho de Sousa, Samir Abdallah Hanna, Marcos Vinicius Calfat Maldaun, Ceci Obara Kurimori, Luiz Guilherme Cernaglia Aureliano de Lima, Romulo Loss Mattedi, Rodrigo Ramella Munhoz
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Introduction:
Chordomas are rare malignancies of bone origin that occur in the axial skeleton, typically the skull base and lumbar/sacral regions. Although often classified as low-grade neoplasms, its locally infiltrative behavior may result in significant morbidity and mortality. Optimal surgical resection may be curative, but up to 50% of the cases relapse within 5 years, and currently there are no systemic treatments approved in this setting. A large proportion of these tumors express stem-cell factor receptor (c-KIT) and platelet-derived growth factor receptors (PDGFRs), providing a rationale for the use of tyrosine-kinase inhibitors (TKIs).
Case report:
A 27-year-old male presented with recurrent chordoma of the lumbar spine 4 years after initial diagnosis. Salvage therapies in the interval included repeat resections and radiation therapy. He ultimately developed multifocal recurrence not amenable to complete excision or reirradiation. A comprehensive genomic profiling assay was performed and revealed nondrugable alterations. Decision was made to proceed with systemic treatment with pazopanib 800 mg/day, resulting in tumor reduction (-23.1% reduction in size) and prolonged disease control.
Conclusion:
For this patient with a multiple recurrent chordoma and limited treatment options, pazopanib resulted in sustained clinical benefit following initial tumor reduction.
Endoscopic and pathohistologic features of early gastric signet ring cell carcinoma presented as elevated type: A case report
Authors: Lianjun Di, Xinglong Wu, Biguang Tuo
Journal: Front Oncol (2022)
Keywords: case report, early diagnosis, endoscopic feature, gastric cancer, signet ring cell carcinoma
MeSH terms: Case Reports

Background:
Almost all early gastric signet ring cell carcinomas (SRCCs) are the flat or depressed type, and the elevated type is rare. Here, we report the endoscopic and pathohistologic features of a rare case of SRCCs presented as the elevated type.
Case presentation:
A 54-year-old man underwent esophagogastroduodenoscopy in our hospital because of intermittent upper abdominal pain for 6 years. White light endoscopy revealed an elevated lesion that is smooth and reddish and covered with normal mucosa and looked like a polyp. Magnifying endoscopy with narrow-band imaging showed broadened intervening parts, an elongated pit, and a dense microvascular network with focal irregularity. The lesion was considered as early gastric cancer and completely resected with endoscopic submucosal dissection. Pathohistological examination confirmed that the lesion was pure early SRCC that was limited within the mucosal lamina propria (T1a).
Conclusion:
Elevated pure gastric SRCC is rare. This is a report of early pure gastric SRCC presented as the elevated type and the description of its endoscopic and pathohistologic features, which will contribute to the early detection of gastric SRCC.
Disseminated Pulmonary Mycosis Caused by Candida tropicalis in an 11-Year-Old Male Patient with Chronic Granulomatous Disease
Authors: Ali Alsuheel Asseri, Ahmed Al-Jarie, Alshima Alassim, Mohamed E Hamid, Hamza AlGhamdi
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Invasive fungal infection is a major threat to chronic granulomatous disease (CGD) patients. We present a rare case of invasive mycosis in a CGD boy. An 11-year-old preadolescent boy presented with fever, hypoxia, and dyspnea. Physical examination revealed left neck enlarged lymph nodes with healed scars. The chest revealed bilateral diminished air entry with bilateral coarse crackles. Peripheral blood leukocyte count was 28.260/μL with 84% neutrophil, 11% lymphocyte, and 4.4% monocyte. The patient's condition deteriorated regardless of the empirical antibacterial against MRSA and suspected tuberculosis. A sputum sample was submitted for mycological investigation, and budding yeasts with pseudohyphae were detected in the direct smear and were isolated in pure culture using Sabouraud agar. Candida tropicalis was identified from cultural and microscopic features and confirmed by the Vitek 2 automated system. This result confirmed the invasive mycosis, obviously due to the underlying primary immunodeficiency, chronic granulomatous disease (CGD). Amphotericin was added, and he also received IV methylprednisolone for seven days. The patient improved and was weaned off oxygen with no fever. However, the patient was referred to a higher center for further workup, which confirmed CGD's diagnosis. He is on the list for HLA-identical bone marrow transplantation (BMT).
Absence of chronic traumatic encephalopathy in retired football players with multiple concussions and neurological symptomatology
Authors: Lili-Naz Hazrati, Maria C Tartaglia, Phedias Diamandis, Karen D Davis, Robin E Green, Richard Wennberg, Janice C Wong, Leo Ezerins, Charles H Tator
Journal: Front Hum Neurosci (2013)
Keywords: chronic traumatic encephalopathy, dementia, neurodegenerative disease, professional athletes, repetitive brain injury

Background:
Chronic traumatic encephalopathy (CTE) is the term coined for the neurodegenerative disease often suspected in athletes with histories of repeated concussion and progressive dementia. Histologically, CTE is defined as a tauopathy with a distribution of tau-positive neurofibrillary tangles (NFTs) that is distinct from other tauopathies, and usually shows an absence of beta-amyloid deposits, in contrast to Alzheimer's disease (AD). Although the connection between repeated concussions and CTE-type neurodegeneration has been recently proposed, this causal relationship has not yet been firmly established. Also, the prevalence of CTE among athletes with multiple concussions is unknown.
Methods:
We performed a consecutive case series brain autopsy study on six retired professional football players from the Canadian Football League (CFL) with histories of multiple concussions and significant neurological decline.
Results:
All participants had progressive neurocognitive decline prior to death; however, only 3 cases had post-mortem neuropathological findings consistent with CTE. The other 3 participants had pathological diagnoses of AD, amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Moreover, the CTE cases showed co-morbid pathology of cancer, vascular disease, and AD.
Discussion:
Our case studies highlight that not all athletes with history of repeated concussions and neurological symptomology present neuropathological changes of CTE. These preliminary findings support the need for further research into the link between concussion and CTE as well as the need to expand the research to other possible causes of taupathy in athletes. They point to a critical need for prospective studies with good sampling methods to allow us to understand the relationship between multiple concussions and the development of CTE.
Diffuse histology-proven mucinous cystic neoplasm of the pancreas: A case report and review of literature
Authors: Clara T Nicolas, Sameer Al Diffalha, Sushanth Reddy
Journal: Int J Surg Case Rep (2019)
Keywords: case report, mucinous cystic neoplasm, pancreas, pseudocyst

Introduction:
Mucinous cystic neoplasms (MCN) are rare premalignant neoplasms of the pancreas that are typically found as single lesions in the pancreatic body and tail of women in the fifth and sixth decade of life, do not communicate with the pancreatic ductal system and are characterized by mucin-producing epithelium supported by ovarian-type stroma.
Presentation of case:
We present here a case of diffuse pancreatic involvement by MCN in a 64-year-old woman with chronic pancreatitis. Pre-operative suspicion for MCN was low due to the multi-centric nature of the lesions and imaging/biochemical fluid analysis demonstrating connection with the pancreatic ductal architecture. The patient underwent total pancreatectomy with pathology showing multiple cysts lined by flat epithelium with focal ovarian-type stroma, consistent with low-grade MCN.
Discussion:
The presence of ovarian stroma on histological analysis is one of the defining characteristics of MCNs per WHO guidelines, and is mandatory for its diagnosis. Only one case of diffuse MCN has been previously described in the literature; however, in this case the authors were not able to reach a definitive histological diagnosis based on WHO criteria.
Conclusion:
To our knowledge, this is the first report of diffuse histology-proven MCN of the pancreas.
A Rare Incidental Finding of a Foreign Body in the Nasopharynx during Adenotonsillectomy
Authors: Waleed M Alshehri, Bandar Al-Qahtani
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Diverse foreign bodies may become lodged in the aerodigestive tract, and the discovery of such foreign bodies is an expected scenario for health-care practitioners. The foreign body insertion may be accidental or deliberate, and the object may be organic or inorganic. Most accidental foreign body aspirations occur in children, and some such cases are potential threats that go unnoticed. Very few cases of foreign bodies in the nasopharynx have been reported. Herein, we describe an unusual case in which a foreign body in a child's nasopharynx went unnoticed for 1 year and was detected intraoperatively.
Case Report: Nasal Cavity Epithelial-Myoepithelial Carcinoma With High Fluoro-D-Glucose Uptake on Positron Emission Tomography/Computed Tomography
Authors: Jacques Dzuko Kamga, Jean-Christophe Leclere, Arnaud Uguen, Karim Amrane, Ronan Abgral
Journal: Front Med (Lausanne) (2021)
Keywords: 18fdg-pet/ct, epithelial-myoepithelial carcinoma (emc), high avidity, high grade, nasal cavity
MeSH terms: Case Reports

Epithelial-myoepithelial carcinoma (EMC) is a rare malignant neoplasm arising most frequently in the salivary glands and exceptionally in the nasal cavity. EMC accounts for ~1-2% of salivary gland tumors. Even if the nodal and distant metastasis rates are low, tumor staging remains indicated. Here, the authors present the 2-deoxy-2-[18F]fluoro-D-glucose PET-CT (18F-FDG-PET/CT) study of a very rare case of biopsy-proven EMC of the left nasal cavity. This 18F-FDG-PET/CT was performed to stage this tumor and guide the therapeutic strategy due to an atypical high-grade presentation in immunohistochemistry. To our knowledge, this is the first case reporting such high 18F-FDG avidity of EMC of the nasal cavity in PET/CT.
Understanding the delivery of a Canadian-based after-school STEM program: a case study
Authors: Eugenia Duodu, Jessica Noble, Yusuf Yusuf, Camilo Garay, Corliss Bean
Journal: Int J STEM Educ (2017)
Keywords: community, evaluation, stem, science, youth

Background:
Due to the rising demands for a Canadian workforce with science, technology, engineering, and math (STEM)-related education, there is a need to increase youth engagement in STEM education and programming. Research, however, has shown that youth residing in low-income communities are disproportionately affected by psychosocial barriers, which often inhibit meaningful engagement in STEM programming. Visions of Science Network for Learning (VoSNL) was designed and implemented to address these existing barriers. VoSNL is a charitable organization in Southern Ontario, Canada, that provides weekly community-based STEM programming to low-income and marginalized youth during out-of-school time. VoSNL programming is delivered directly within the community and is free-of-charge for all youth in order to minimize barriers of physical and financial accessibility. The purpose of this report was to provide a detailed description of a core program within VoSNL-Community Science Clubs-and summarize the findings of a process evaluation, specifically the successes and challenges of implementing a community-based, out-of-school STEM program.
Results:
Program successes are outlined along with the challenges that have been identified through program implementation. Successes include (a) delivering the program within a community context, (b) opportunities for consistent engagement, and (c) establishing positive youth-staff relationships. Challenges include (a) navigating community-based issues, (b) conducting outreach and promotion, and (c) accommodating a wide age range of youth. Further, lessons learned from an evaluation of program implementation are also discussed.
Conclusions:
This report provides one of the first program descriptions and process evaluations of a community-based, youth-focused STEM program within a Canadian context. The findings in this report have helped to improve the delivery and evaluation of the VoSNL program and may act as a catalyst for program expansion to reach more youth in marginalized communities. Further, the findings can also provide a strong framework for programmers interested in implementing STEM youth programming in a community context, assist in the replication of similar models in other locations, and enhance STEM learning amongst youth.