OpenMed/multicare-articles huggingface dataset:
Metastatic lobular carcinoma of breast mimics primary cervix carcinoma: two case reports and a review of the literature
Authors: Rajitha Lokadasan, K Ratheesan, Renu Sukumaran, Sindhu P Nair
Journal: Ecancermedicalscience (2015)
Keywords: breast, cervix, endometrium, female genital tract, lobular carcinoma, metastatic
MeSH terms: Case Reports

Invasive lobular carcinoma (ILC) of the breast exhibits unusual clinicopathological, radiological, histological, and metastatic patterns. We present here two cases of ILC of the breast that presented with an unusual pattern of metastasis involving the uterus. Our first patient presented to her primary gynaecologist with profuse vaginal bleeding and underwent total abdominal hysterectomy and bilateral salpingo-oophrectomy. She had fibroadenoma excised from her left breast four years previously. Histopathology revealed lobular carcinoma diffusely infiltrating uterus, cervix, and bilateral ovaries. Retrospective examination of the left breast showed induration along the previous fibroadenoma excision scar. A biopsy from the scar suggested lobular carcinoma. Our second patient presented with a hard indurated cervix mass that mimicked primary cervix carcinoma. She had ILC of the right breast four years previously for which she underwent mastectomy followed by adjuvant chemotherapy and radiotherapy. She was on tamoxifen. Further evaluation at presentation with imaging showed extensive intra-abdominal disease involving peritoneum with moderate ascites, adnexal masses, and confluent para-aortic nodal mass. A cervix biopsy confirmed metastasis from lobular carcinoma. Metastatic involvement of the genital tract should be considered in women with a history of breast cancer who present with abnormal vaginal bleeding, suspicious pelvic examination, or radiological findings. We suggest such patient be vigorously screened with biopsy even if the patient is disease-free for several years. It is crucial to differentiate the metastasis from primary carcinoma of the genital tract as there are vast differences in the management of each.
Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism
Authors: Ilze Konrade, Julija Zavorikina, Aija Fridvalde, Dmitrijs Rots, Ieva Kalere, Ilze Strumfa, Maija Dambrova, Linda Gailite
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: androgen receptor (ar) gene, case, complete androgen insensitive syndrome, novel genetic variants, polyorchidism, supernumerary testis
MeSH terms: Case Reports

Introduction: Complete androgen insensitivity (CAIS) in 65-95% cases is caused by pathogenic allelic variants (mutations) in the gene encoding androgen receptor (AR gene) and is characterized by female phenotype development with a male karyotype (46, XY). Patients are usually diagnosed during puberty and undergo gonadectomy due to increased testicular germ cell tumor risk. Only a few outcomes have been reported in older individuals with postponed gonadectomy. Case presentation: A 48-year-old CAIS patient presented with polyorchidism (four testes) without gonadal malignancies. Genetic testing identified a novel allelic variant in the AR gene [c.2141T>G (p.Phe805Cys)] causing the clinical symptoms. Conclusion: We have described a unique patient with CAIS and polyorchidism without malignancies in her late 40's bearing a novel likely pathogenic variant in the AR gene.
Bilateral hypoplasia of the internal carotid artery, presenting as a subarachnoid hemorrhage secondary to intracranial aneurysmal formation: a case report
Authors: Arshad A Siddiqui, Zain A Sobani
Journal: J Med Case Rep (2012)

Introduction:
Hypoplasia of the internal carotid artery is a rare congenital anomaly, with only 24 cases of bilateral internal carotid artery hypoplasia reported to date. Here, we present the case of a 48-year-old woman with bilateral internal carotid artery hypoplasia. She had a collateral circulation through the vertebrobasilar system; however given the high pressure flow she developed aneurysmal formations in the posterior communicating artery. To the best of our knowledge, only seven reported cases of internal carotid artery hypoplasia have been associated with intracranial aneurysmal formations.
Case presentation:
A 48-year-old Sindhi woman from Karachi, Pakistan, presented to our emergency room with a sudden onset headache and was diagnosed as having a subarachnoid hemorrhage. Digital subtraction angiography revealed hypoplasia of her internal carotid artery bilaterally with an associated fusiform aneurysm of the posterior communicating artery. Our patient declined any operative intervention in view of the associated risks. She died of a rebleed six weeks after her initial presentation.
Conclusion:
Bilateral internal carotid artery occlusions can present with subarachnoid hemorrhages due to associated intracranial aneurysm formation. Prior knowledge about the possible existence of such angioarchitectural arrangement is mandatory for an early diagnosis. However, even with prompt diagnosis, management options with acceptable risk-benefit equations are still unavailable.
Tubulovillous Adenoma in the Bladder in a Dual Pancreas-Kidney Transplant Patient
Authors: Taylor Remondini, Stephan Van Zyl, Tarek A Bismar, Serdar Yilmaz, M Eric Hyndman
Journal: J Endourol Case Rep (2017)
Keywords: bladder cancer, cystoscopy, pancreas-kidney transplant, transurethral resection, tubulovillous adenoma
MeSH terms: Case Reports

Background: A rare report of a tubulovillous adenoma arising in the setting of a dual pancreas-kidney transplant patient. Case Presentation: This adenoma was discovered in a 60-year-old male with a dual pancreas-kidney transplant that presented with urinary retention and gross hematuria. Management of this patient required both transurethral resection of the tumor as well as a laparotomy after recurrence. Follow-up with cystoscopy has shown no further recurrence of the tumor. Conclusion: This case adds to the few cases documented of adenomas arising in bladders augmented with gastrointestinal tract tissue. The tumor may reflect growth from donor duodenal graft tissue, however, the metaplasia of urothelial tissue cannot be fully ruled out. Based on this case, our understanding of these rare tumors and their clinical course is deepened.
A Degrading Potassium Tablet Mimicking Active Gastric Bleeding in a Computer Tomographic Investigation
Authors: J P Commandeur, A Metwaly, L Büchler, J Speiser, L Brander, A Reintam Blaser
Journal: Case Rep Radiol (2020)
MeSH terms: Case Reports

A 54-year-old male patient was admitted to the hospital due to symptoms caused by an intramural hematoma of the descending aorta. In a contrast media-enhanced computed tomography scan performed five days after admission to evaluate dynamics of the hematoma, a hyperdense lesion was seen in the stomach. A suspicion of gastric hemorrhage was raised at the first evaluation. Because the patient's clinical condition and hemoglobin levels were stable, gastroscopy to rule out an aorto-gastric fistula or another type of bleeding was not undertaken. In the secondary evaluation of the history and images, it became clear that the hyperdense lesion mimicking bleeding in the stomach must have been caused by a degrading potassium tablet ingested by the patient five hours before the investigation.
Surgical Navigation, Augmented Reality, and 3D Printing for Hard Palate Adenoid Cystic Carcinoma En-Bloc Resection: Case Report and Literature Review
Authors: Mónica García-Sevilla, Rafael Moreta-Martinez, David García-Mato, Gema Arenas de Frutos, Santiago Ochandiano, Carlos Navarro-Cuéllar, Guillermo Sanjuán de Moreta, Javier Pascau
Journal: Front Oncol (2022)
Keywords: 3d printing, adenoid cystic carcinoma, augmented reality, head and neck cancer, surgical navigation
MeSH terms: Case Reports

Adenoid Cystic Carcinoma is a rare and aggressive tumor representing less than 1% of head and neck cancers. This malignancy often arises from the minor salivary glands, being the palate its most common location. Surgical en-bloc resection with clear margins is the primary treatment. However, this location presents a limited line of sight and a high risk of injuries, making the surgical procedure challenging. In this context, technologies such as intraoperative navigation can become an effective tool, reducing morbidity and improving the safety and accuracy of the procedure. Although their use is extended in fields such as neurosurgery, their application in maxillofacial surgery has not been widely evidenced. One reason is the need to rigidly fixate a navigation reference to the patient, which often entails an invasive setup. In this work, we studied three alternative and less invasive setups using optical tracking, 3D printing and augmented reality. We evaluated their precision in a patient-specific phantom, obtaining errors below 1 mm. The optimum setup was finally applied in a clinical case, where the navigation software was used to guide the tumor resection. Points were collected along the surgical margins after resection and compared with the real ones identified in the postoperative CT. Distances of less than 2 mm were obtained in 90% of the samples. Moreover, the navigation provided confidence to the surgeons, who could then undertake a less invasive and more conservative approach. The postoperative CT scans showed adequate resection margins and confirmed that the patient is free of disease after two years of follow-up.
High-Entry Vertebral Artery Variant during Anterior Cervical Discectomy and Fusion
Authors: Jay Moran, Joseph B Kahan, Christopher A Schneble, Michele H Johnson, Shin Mei Chan, Jonathan N Grauer, Daniel R Rubio
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Anterior surgical approaches to the cervical spine have allowed for treatment of common and complex pathologies with excellent outcomes. During the approach, complications can result from injury to the surrounding structures. The transverse processes usually protect the vertebral artery (VA) as it enters at C6 and courses cranially through the transverse foramina to C2 (referred to as the V2 segment). This is a case report of a patient who presented with myeloradiculopathy attributed to a C4-C5 disc herniation, severe canal stenosis, and marked bilateral neural foraminal stenosis. Preoperative imaging showed the right VA entering the C4 transverse foramen. This anatomic variant on a routine MRI led to further imaging and precautions when performing an uneventful anterior cervical discectomy and fusion (ACDF) at C4-C5. A high VA entry point into the transverse foramen above C6 could increase the risk of iatrogenic vascular injury in anterior approaches to the cervical spine. Rarely reported, the currently presented case describes a patient with a C4 right VA entry variant and highlights the importance of proper surgical planning.
The ontology of genetic susceptibility factors (OGSF) and its application in modeling genetic susceptibility to vaccine adverse events
Authors: Yu Lin, Yongqun He
Journal: J Biomed Semantics (2014)

Background:
Due to human variations in genetic susceptibility, vaccination often triggers adverse events in a small population of vaccinees. Based on our previous work on ontological modeling of genetic susceptibility to disease, we developed an Ontology of Genetic Susceptibility Factors (OGSF), a biomedical ontology in the domain of genetic susceptibility and genetic susceptibility factors. The OGSF framework was then applied in the area of vaccine adverse events (VAEs).
Results:
OGSF aligns with the Basic Formal Ontology (BFO). OGSF defines 'genetic susceptibility' as a subclass of BFO:disposition and has a material basis 'genetic susceptibility factor'. The 'genetic susceptibility to pathological bodily process' is a subclasses of 'genetic susceptibility'. A VAE is a type of pathological bodily process. OGSF represents different types of genetic susceptibility factors including various susceptibility alleles (e.g., SNP and gene). A general OGSF design pattern was developed to represent genetic susceptibility to VAE and associated genetic susceptibility factors using experimental results in genetic association studies. To test and validate the design pattern, two case studies were populated in OGSF. In the first case study, human gene allele DBR*15:01 is susceptible to influenza vaccine Pandemrix-induced Multiple Sclerosis. The second case study reports genetic susceptibility polymorphisms associated with systemic smallpox VAEs. After the data of the Case Study 2 were represented using OGSF-based axioms, SPARQL was successfully developed to retrieve the susceptibility factors stored in the populated OGSF. A network of data from the Case Study 2 was constructed by using ontology terms and individuals as nodes and ontology relations as edges. Different social network analys is (SNA) methods were then applied to verify core OGSF terms. Interestingly, a SNA hub analysis verified all susceptibility alleles of SNPs and a SNA closeness analysis verified the susceptibility genes in Case Study 2. These results validated the proper OGSF structure identified different ontology aspects with SNA methods.
Conclusions:
OGSF provides a verified and robust framework for representing various genetic susceptibility types and genetic susceptibility factors annotated from experimental VAE genetic association studies. The RDF/OWL formulated ontology data can be queried using SPARQL and analyzed using centrality-based network analysis methods.
Successful Management of Cervical Ectopic Pregnancy with Bilateral Uterine Artery Embolization and Methotrexate
Authors: Keitaroh Takeda, John Mackay, Susan Watts
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Cervical ectopic pregnancy (CEP) is a rare form of ectopic pregnancy. Cases diagnosed early in pregnancy can be managed medically, but more advanced pregnancies often require hysterectomy. Uterine artery embolization (UAE) is a novel approach to CEP for those who wish to preserve fertility. Here we present the case of a 44-year-old female with a 2-week history of vaginal bleeding and abdominal pain who was diagnosed with CEP and successfully treated with bilateral UAE (BUAE) in combination with methotrexate. A 44-year-old female presented to the emergency department with a 2-week history of vaginal bleeding. Serum beta-hCG was 71,964 mIU/ml. The transvaginal ultrasound confirmed CEP. The patient was referred to obstetrics and interventional radiology and ultimately treated with BUAE and methotrexate. Symptoms resolved quickly and she was discharged after 3 days.
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
Authors: Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Journal: Neurogenetics (2017)
Keywords: cmt2a, charcot-marie-tooth disease, mfn2, mosaicism
MeSH terms: Charcot-Marie-Tooth Disease / genetics, Charcot-Marie-Tooth Disease / pathology, GTP Phosphohydrolases / genetics, Mitochondrial Proteins / genetics, Mosaicism, Mutation, Missense, Case Reports, Adult, Child, Preschool, Father-Child Relations, Female, Humans, Male, Nuclear Family, Parents, Pedigree, Phenotype, Severity of Illness Index, Mitochondrial Proteins, GTP Phosphohydrolases, MFN2 protein, human

Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c.1090C > T, p.(Arg364Trp) in the MFN2 gene. This variant was also detected in a mosaic state in blood and saliva by Sanger sequencing in her subjectively healthy father. Next generation sequencing showed that the level of mosaicism was 21% in blood and 24% in saliva. A high recurrence risk was given because the father had proven somatic mosaicism and an affected child implying gonadal mosaicism. The parents were referred for pre-implantation genetic diagnosis. To the best of our knowledge, this is the first reported case of somatic mosaicism for MFN2. This study has important implications for genetic counselling in families with CMT2A.
Functional Translocation of Broca's Area in a Low-Grade Left Frontal Glioma: Graph Theory Reveals the Novel, Adaptive Network Connectivity
Authors: Qiongge Li, Jian W Dong, Gino Del Ferraro, Nicole Petrovich Brennan, Kyung K Peck, Viviane Tabar, Hernán A Makse, Andrei I Holodny
Journal: Front Neurol (2019)
Keywords: brain tumor surgery, fmri, glioma, graph theory, language function reorganization
MeSH terms: Case Reports

We describe frontal language reorganization in a 50-60 year-old right-handed patient with a low-grade left frontotemporal insular glioma. Pre-operative fMRI revealed robust activation in the left superior temporal gyrus (Wernicke Area, WA) and in the right inferior frontal gyrus (right anatomical homolog of Broca Area, BA). Intra-operative cortical stimulation of the left inferior frontal gyrus and adjacent cortices elicited no speech deficits, and gross total resection including the expected location of BA resulted in no speech impairment. We employed statistical inference methods to reconstruct the functional brain network and determined how different brain areas connect with one another. We found that the right homolog of the BA in this patient functionally connected to the same areas as the left BA in a typical healthy control. As opposed to the functional connection of the left BA in a healthy brain, the right BA did not connect directly with the left WA, but connected indirectly, mediated by the pre-Supplementary Motor Area and the Middle Frontal Gyrus. This case illustrates that pre-surgical fMRI may be used to identify atypical hemispheric language reorganization in the presence of brain tumor and that network theory opens the possibility for future insight into the neural mechanism underlying the language reorganization.
Tratamento endovascular do aneurisma aortoilíaco: relato do primeiro caso utilizando endoprótese brasileira com ramo ilíaco
Authors: Fábio Augusto Cypreste Oliveira, Carlos Eduardo de Sousa Amorelli, Fábio Lemos Campedelli, Davi Heckmann, Juliana Caetano Barreto, Maria Cunha Ribeiro Amorelli, Ana Flávia Guerra Campedelli, Philippe Moreira da Silva
Journal: J Vasc Bras (2017)
MeSH terms: Case Reports

Abstract:
Aortoiliac aneurysms are particularly challenging to treat using a totally endovascular approach, because embolization of the internal iliac arteries can cause major complications. Several conventional and endovascular surgical techniques have been described that offer preservation of at least one internal iliac branch and options for completely endovascular treatment include branched stentgrafts and the parallel grafts technique. Here, the authors report the first case of endovascular treatment with preservation of an internal iliac branch using a Brazilian iliac branch device.
Isolation protocol for a COVID-2019 patient requiring emergent surgical intervention: case presentation
Authors: Michael S Firstenberg, Matthew Libby, Michael Ochs, Jennifer Hanna, Julie E Mangino, Joseph Forrester
Journal: Patient Saf Surg (2020)
Keywords: covid-2019, emergency surgery, infection control, sars-cov-2
MeSH terms: Case Reports

Background:
The concerns of the highly contagious and morbid nature of Coronavirus Disease-2019 (COVID-2019) have prompted healthcare workers to implement strict droplet and contact isolation precautions. Unfortunately, some patients who may be or presumptively or confirmed as infected with COVID-2019 may also require emergent surgical procedures. As such, given the high-risk for exposure of many healthcare workers involved the complex requirements for appropriate isolation must be adhered to.
Case presentation:
We present our experience with a 77-year-old who required emergency cardiac surgery for a presumed acute aortic syndrome in the setting of a presumed, and eventually confirmed, COVID-2019 infection. We outline the necessary steps to maintain strict isolation precautions to limit potential exposure to the surgical Team.
Conclusions:
We hereby provide our algorithm for emergent surgical procedures in critically-ill patients with presumptive or confirmed infection with COVID-2019. The insights from this case report can potentially be templated to other facilities in order to uphold high standards of infection prevention and patient safety in surgery during the current COVID-19 pandemic.
Gastric, pancreatic, and ureteric duplication
Authors: Anindya Chattopadhyay, S K Mitra, Soumitra Dutta, Hema Chakraborty
Journal: J Indian Assoc Pediatr Surg (2010)
Keywords: gastrointestinal duplications, pancreatic duplications, ureteral atresia, ureteric duplication
MeSH terms: Case Reports

We report a case of an 8-month-old, asymptomatic child who was incidentally detected to have two cystic structures in the abdomen. Surgical exploration revealed a gastric and pancreatic duplication cyst along with a blind-ending duplication of the right ureter. Excision of the duplications was relatively straightforward, and the child made an uneventful recovery. This constellation of duplications has not been reported before.
Glutamine powder-induced hepatotoxicity: it is time to understand the side effects of sports nutritional supplements
Authors: Behzad Hatami, Ali Saffaei, Faezeh Jamali, Mohammad Abbasinazari
Journal: Gastroenterol Hepatol Bed Bench (2020)
Keywords: glutamine, hepatotoxicity, pharmacovigilance, side effects, supplements
MeSH terms: Case Reports

Glutamine has been considered as a dietary supplement with a non-essential amino acid structure. Some studies have found that liver failure may be associated with a high plasma glutamine level. Consumption of this product may be linked to potential adverse effects. This report describes the first case of glutamine-induced hepatotoxicity. A 35-year-old female athlete with severe abdominal pain and scleral icterus was referred to the hospital. She had been taking glutamine powder for the past three weeks. Impaired liver function test and imaging evaluation suggested hepatotoxicity. Glutamine consumption was discontinued and the patient was closely monitored. Finally, after two weeks, the patient recovered successfully. This novel case was the first report regarding glutamine-induced hepatotoxicity. Health care providers must know that consumption of dietary supplements such as glutamine may be associated with serious side effects. Liver damage is a possible side effect of glutamine. Hence it is necessary to consider hepatotoxicity as an adverse reaction in case of glutamine supplement consumption.