OpenMed/multicare-articles huggingface dataset:
Intraductal Papillary Mucinous Neoplasm and Pancreas Divisum: Two Cases
Authors: Joseph A Baiocco, Colin T Ackerman, James L Crawford, Charles J Yeo
Journal: J Pancreat Cancer (2016)
Keywords: intraductal papillary mucinous neoplasms, pancreas divisum, uncinate process
MeSH terms: Case Reports

Background:
Pancreatic intraductal papillary mucinous neoplasms (IPMNs) are a subset of ductal cell tumors with potential for malignancy. Because it is difficult to predict whether and when they will become malignant, management and resection are widely debated.
Case 1:
A 70-year-old male with a 1-year history of epigastric pain was found to have pancreas divisum with a dominant 2.4 cm multicystic uncinate process lesion communicating with the main pancreatic duct and associated uncinate duct dilation.
Case 2:
An 83-year-old male with pancreas divisum had a 7.3 cm uncinate cystic lesion with mural nodularity that had increased in size from 2.1 cm in 2008.
Conclusion:
Management of patients with IPMNs can be challenging and may require resection to prevent malignant transformation.
The Role of Inner Speech in Executive Functioning Tasks: Schizophrenia With Auditory Verbal Hallucinations and Autistic Spectrum Conditions as Case Studies
Authors: Valentina Petrolini, Marta Jorba, Agustín Vicente
Journal: Front Psychol (2020)
Keywords: auditory verbal hallucinations, autism spectrum conditions, executive functions, inner speech, schizophrenia

Several theories propose that one of the core functions of inner speech (IS) is to support subjects in the completion of cognitively effortful tasks, especially those involving executive functions (EF). In this paper we focus on two populations who notoriously encounter difficulties in performing EF tasks, namely, people diagnosed with schizophrenia who experience auditory verbal hallucinations (Sz-AVH) and people with autism spectrum conditions (ASC). We focus on these two populations because they represent two different ways in which IS can fail to help in EF tasks, which can be illustrative for other mental conditions. First, we review the main components of EF (see section "Executive Functions"). Then we explain the functions that IS is taken to perform in the domain of EF (see section "Inner Speech and Executive Functions") and review the evidence concerning problems about EF in the two populations of our study: Sz-AVH (see section "Executive Functions and Inner Speech in Sz-AVH") and ASC (see section "Executive Function and Inner Speech in ASC"). After this we further detail our account about what a properly functioning IS can do for both populations and how different IS profiles may impact EF performance: in the case of Sz-AVH, the uncontrolled and intrusive character of IS negatively affects EF performance, whereas in ASC, EF is not sufficiently supported by IS, given the tendency in this population to present a diminished use of IS (see section "IS in ASC and Sz-AVH: How It Relates to EF"). We finally briefly discuss Attention Deficit/Hyperactivity Disorder (ADHD) and Developmental Language Disorders (DLD) (see section "Further Considerations").
Management strategy of a carotid-esophageal fistula with a right common carotid artery pseudoaneurysm due to chicken bone ingestion: A case report and literature review
Authors: Dongming Xu, Haichao Qian, Lishan Lian, Miaorong Xie, Hanyu Zhang
Journal: Front Surg (2023)
Keywords: case report, common carotid artery pseudoaneurysm, fistula, gastrointestinal bleeding, hemorrhage shock
MeSH terms: Case Reports

Common carotid artery (CCA) pseudoaneurysm is a rare clinical disorder. CCA pseudoaneurysm that occurs with a carotid-esophageal fistula and causes massive upper gastrointestinal bleeding is especially uncommon but can be life-threatening. Accurate diagnosis and prompt managements are essential to save lives. Here, we report a case of a 58-year-old female who presented with dysphagia and throat pain after accidental ingestion of a chicken bone. The patient presented with active upper gastrointestinal bleeding which quickly developed into hemorrhage shock. Imaging studies confirmed a diagnosis of right CCA pseudoaneurysm and carotid-esophageal fistula. The patient had a satisfactory recovery after a right CCA balloon occlusion, right CCA pseudoaneurysm excision, and right CCA and esophageal repairs. We present and discuss this case here to remind physicians to rule out rare causes of upper gastrointestinal bleeding. A multidisciplinary approach is commonly required to achieve satisfactory outcomes in these cases.
Recurrent Volvulus during Pregnancy: Case Report and Review of the Literature
Authors: Layan Alrahmani, Jaclyn Rivington, Carl H Rose
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Introduction:
Sigmoid colon volvulus (SV) represents the most common etiology of antepartum gastrointestinal obstruction, with repetitive antepartum episodes rarely reported.
Case presentation:
A 25-year-old multiparous patient with history of SV at 26 weeks in her previous pregnancy presented with recurrent episodes of SV at 32 0/7, 32 4/7, 37 0/7, and 38 1/7 weeks successfully managed with colonoscopic decompression. Labor was successfully induced at 38 4/7 weeks, and she experienced two further episodes on postpartum days #1 and #32 also treated with colonoscopic decompression, followed by laparoscopic resection.
Conclusion:
Successful treatment of antepartum SV with colonoscopic decompression does not preclude recurrence later in gestation and in future pregnancies.
Intracavitary cardiac metastasis of cervical squamous cell carcinoma with immune thrombocytopenia: a rare case report
Authors: Ning Liu, Deguan Lv, Raydonna Rachel Schneider, Hongyan Yang, Mingyan Zhang, Yanan Liu, Meili Sun
Journal: Front Oncol (2023)
Keywords: cervical cancer, circulatory failure, immune checkpoint inhibitors, immune thrombocytopenia, intracavitary cardiac metastasis
MeSH terms: Case Reports

Cervical cancer is a prevalent gynecological malignancy; however, intracavitary cardiac metastasis of cervical squamous cell carcinoma is exceptionally rare. In addition, the co-occurrence of cervical cancer and right ventricular cancer thrombus with autoimmune diseases is extremely uncommon. Furthermore, the role of immune checkpoint inhibitors in the treatment process of such cases remains controversial. Given the scarcity of reported cases, it is imperative to document and highlight this unique presentation, providing novel insights into diagnosis and management strategies. We present the case of an adult patient diagnosed with cervical cancer and concurrent right ventricular cancer thrombus, accompanied by immune thrombocytopenia (ITP). The patient exhibited resistance to conventional ITP drugs, with suboptimal platelet response. However, upon achieving initial control of the tumor, the patient's platelet counts returned to normal. Notably, the addition of immune checkpoint inhibitors targeting PD-L1 resulted in effective tumor control, accompanied by sustained high platelet levels. Unfortunately, during subsequent anti-tumor therapy, the patient experienced a prolonged platelet rise time, rendering continuous effective anti-tumor therapy and anticoagulant therapy unattainable. This led to a gradual increase in intraventricular thrombosis, ultimately resulting in the patient's demise due to circulatory failure. This rare case sheds light on the potential alleviation of ITP in patients with tumor complications through effective antitumor therapy. The successful control of ITP after tumor management highlights the importance of integrated treatment approaches. Furthermore, the inclusion of immune checkpoint inhibitors demonstrated their potential role in achieving tumor control and maintaining platelet levels. However, the prolonged platelet rise time observed during subsequent therapy underscores the challenges in maintaining both effective anti-tumor therapy and anticoagulant therapy, necessitating careful management strategies. This case report emphasizes the need for a comprehensive evaluation and tailored therapeutic interventions in similar complex scenarios. In summary, this case report offers valuable clinical insights into the management of intracavitary cardiac metastasis of cervical squamous cell carcinoma, the coexistence of immune thrombocytopenia, and the potential implications of immune checkpoint inhibitors in such cases. Understanding these rare occurrences and their clinical impact can contribute to improved diagnostic approaches, therapeutic decision-making, and patient outcomes.
Durable Response to Sintilimab and Chidamide in a Patient With Pegaspargase- and Immunotherapy-Resistant NK/T-Cell Lymphoma: Case Report and Literature Review
Authors: Zheng Yan, Shuna Yao, Yanyan Liu, Jianbo Zhang, Peng Li, Haiying Wang, Junfeng Chu, Shuang Zhao, Zhihua Yao
Journal: Front Oncol (2020)
Keywords: nk/t-cell lymphoma, case report, chidamide, immunotherapy, immunotherapy resistance, sintilimab
MeSH terms: Case Reports

The prognosis of patients with relapsed/refractory NK/T-cell lymphoma (NKTCL) is dismal. Immunotherapy has showed encouraging anti-tumor activity in patients with asparaginase-resistant NKTCL; however, only a portion of patients benefit and the median response duration is rather short. Treatment strategies have not been identified for immunotherapy-resistant NKTCL. We describe a patient with primary cutaneous NKTCL experienced disease progression after pegaspargase-based chemotherapy and PD-1 inhibitor (sintilimab)-based immunotherapy. Following a combined treatment of sintilimab and the HDAC inhibitor chidamide, the patient achieved a durable complete molecular response with mild toxicity. This case indicates that the combination of PD-1 inhibitor and HDAC inhibitor might be a treatment choice for immunotherapy-resistant NKTCL.
Case Report: Sudden cardiac death due to ventricular myocardial non-compaction
Authors: Syrine Mannoubi, Med Amin Mesrati, Ibn Hadj Amor Hassen, Taha Hasnaoui, Hiba Limem, Marwa Boussaid, Nouha Ben Abdejlil, Abir Aissaoui
Journal: F1000Res (2020)
Keywords: autopsy, cardiomyopathy, histology, isolated non compaction of the ventricular myocardium, sudden cardiac death
MeSH terms: Heart Ventricles / diagnostic imaging, Ventricular Dysfunction, Left, Case Reports, Adult, Death, Sudden, Cardiac / etiology, Echocardiography, Humans, Male, Myocardium, Young Adult

Ventricular non-compaction (VNC) is a rare myocardium disorder, which can be both genetic and sporadic. A poor wall compaction process or an excessive trabeculae formation may be at the genesis of myocardial hypertrabeculation with multiple recesses. It is often complicated by ventricular dysfunction, arrhythmias and cardiac embolism. Herein we report a case of a 20-year-old male patient with no particular past medical history who was followed up at the cardiology department for dyspnea. Echocardiography showed reduced ejection fraction of the left ventricle with potential hypertrabeculation in the right ventricle, confirmed by cardiac MRI. The patient was not put under medication and was later lost to follow-up. He died few months later without a clear cause explaining death. A forensic autopsy was performed that attributed death to acute ventricle arrhythmia secondary to VNC, emphasizing the major role of an early and specific treatment to avoid such a fatal outcome.
Perioperative Management and Long-Term Outcomes in Ocular Cicatricial Pemphigoid Patients Undergoing Cataract Surgery
Authors: Yuan He, Zhuoya Quan, Ruixue Zhang, Zhi Ji, Jun Jia, Huifeng Liu, Chuntao Zhang, Beilei He, Yuan Ren, Yun Feng
Journal: Oxid Med Cell Longev (2022)
MeSH terms: Cataract, Pemphigoid, Benign Mucous Membrane / diagnosis, Pemphigoid, Benign Mucous Membrane / drug therapy, Female, Fluorescein / therapeutic use, Humans, Male, Methotrexate, Retrospective Studies, Visual Acuity, Fluorescein, Methotrexate

Objective:
To observe the outcomes of cataract surgery in ocular cicatricial pemphigoid (OCP) patients and explore routine perioperative medical treatments.
Design:
Retrospective case series.
Methods:
Fourteen eyes of 8 patients were included in the study. Foster's stage 1-4 OCP patients were given human intravenous immunoglobulin, whereas patients with active inflammation were treated with prednisone tablets and methotrexate. Those who were intolerant to methotrexate and had severe inflammatory symptoms were treated with cyclophosphamide. Cataract surgery was performed for all patients after three months of systemic treatment under stable conditions. The conjunctival biopsy was evaluated by immunofluorescence microscopy. Then, patients were divided into individuals with or without ankyloblepharon. Records were reviewed for OCP stage, type of surgery, best-corrected visual acuity (BCVA), Schirmer I test, corneal fluorescein sodium staining, meibomian gland coloboma range, and ocular surface disease index (OSDI) scores. Follow-up was for the duration of taking topical and systemic medication.
Results:
Nine female (64.29%) and 4 male (35.71%) eyes were diagnosed with OCP by biopsy. The mean follow-up time was 60.64 ± 35.62 months. Thirteen eyes (92.86%) of 7 patients underwent phacoemulsification. One eye underwent phacoemulsification combined with amniotic membrane transplantation. The intracapsular extraction of cataract was applied to one eye. The BCVA improved significantly in all the patients, which remained stable until the last follow-up. The Schirmer I test was higher than that before the surgery. Corneal fluorescein sodium staining after surgery showed a decrease in score compared to the preoperative score. The BCVA of the patients after surgery increased significantly. The OSDI scores of patients with ankyloblepharon were significantly higher than for those without it. Postoperative symblepharon showed no significant difference compared to the preoperative symblepharon.
Conclusions:
In this series, OCP patients with cataracts were able to undergo phacoemulsification surgery, whereas routine use of immunosuppression and closed postoperative follow-up were necessary.
Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases
Authors: Davide Caputo, Silvana Franceschetti, Barbara Castellotti, Elena Freri, G Zorzi, Veronica Saletti, Laura Canafoglia, Tiziana Granata
Journal: Front Neurosci (2023)
Keywords: gaba, slc6a1, absence, epilepsy, intellectual disability
MeSH terms: Case Reports

We report the clinical and EEG data of two patients harboring heterozygous SLC6A1 mutations, who presented with typical absence seizures at 3 Hz spike and wave as well as with mild cognitive disability. Neuroradiological and other laboratory investigations were normal. Our observations suggest that SLC6A1 mutations can be suspected in children with typical absences as the only seizure type, especially if associated with, even mild, cognitive deficits.
Methodological evaluation of human research on asthmagenicity and occupational cleaning: a case study of quaternary ammonium compounds ("quats")
Authors: Judy S LaKind, Michael Goodman
Journal: Allergy Asthma Clin Immunol (2019)
Keywords: asthma, cleaning, disinfecting, occupational, quaternary ammonium compounds, quats
MeSH terms: Review

In this paper, we review methodological approaches used in studies that evaluated the association between occupational exposure to quaternary ammonium compounds (quats) and occupational asthma. This association is of interest because quats are a common active ingredient of disinfectants and have been linked to work-related asthma in some circumstances. However, any evidence-based assessment of an exposure-outcome association needs to consider both strengths and limitations of the literature. We focus on publications cited by various US and international organizations. Eighteen investigations included in the review fall into two broad categories: case reports and challenge studies of individual patients and population studies that examined the association between quats and asthma occurrence in groups of subjects. We evaluated these studies guided by questions that address whether: exposure data on specific quat(s) and other agents that may cause asthma were included, new asthma cases were differentiated from asthma exacerbation, and information on respiratory sensitivity versus irritation was given. We also assessed consistency across studies. Studies of individual patients, particularly those that provided detailed information on challenge test results, document cases of asthma induced by exposure to quats. By contrast, studies of occupational groups with the highest potential for quats exposure (e.g., cleaners and farmers) do not consistently report increased incidence of asthma due specifically to quats. The unresolved methodological issues include: poor understanding of exposure pathways considering that quats are non-volatile, lack of quantitative data allowing for identification of an asthmagenicity threshold, insufficient information on whether quats are sensitizers or act via dose-dependent irritation or some other mechanism, and inability to quantify risk of new-onset asthma attributable to quats. Another important area of uncertainty is the lack of information on the specific quats being used. There is also a lack of data capable of distinguishing the effects of quats from those of other chemical and biological workplace exposures. The current state-of-the-science does not allow a proper assessment of the potential link between quats and occupational asthma.
Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
Authors: Richard J Alsop, Asfia Soomro, Yuchen Zhang, Marc Pieterse, Ayodele Fatona, Kimberly Dej, Maikel C Rheinstädter
Journal: PLoS One (2016)
MeSH terms: Genetic Diseases, Inborn / pathology, Hair / chemistry, Ribosomes / pathology, Case Reports, Research Support, Non-U.S. Gov't, Child, Humans, Male, Tensile Strength, X-Ray Diffraction

We report the biophysical characterization of hair from a patient with a de novo ribosomopathy. The patient was diagnosed with a mutation on gene RPS23, which codes for a protein which comprises part of the 40S subunit of the ribosome. The patient presents with a number of phenotypes, including hypotonia, autism, extra teeth, elastic skin, and thin/brittle hair. We combined optical microscopy, tensile tests, and X-ray diffraction experiments on hair samples obtained from the scalp of the patient to a multi-scale characterization of the hair from macroscopic to molecular length scales and observe distinct differences in the biophysical properties in the patient's hair when compared to hair from other family members. While no differences were observed in the coiled-coil structure of the keratin proteins or the structure of the intermediate filaments, the patient's hair was 22% thinner, while the Young's modulus remained roughly constant. The X-ray diffraction results give evidence that the amount of lipids in the cell membrane complex is reduced by 20%, which well accounts for the other observations. The pathologies characterized by these techniques may be used to inform the diagnosis of similar de novo mutations in the future.
Alpha-gal syndrome and delayed anaphylaxis after ingestion of red meat: A case report
Authors: Lea Caron, Valeria G R Ortolani, Eleonora Bono, Christian P Ratti, Enrico Iemoli
Journal: Allergol Select (2022)
Keywords: anaphylaxis, food allergy, α-gal syndrome (ags)
MeSH terms: Case Reports

α-gal syndrome (AGS) is caused by the intake of products containing α-gal (galactose-α-1,3-galactose) like mammalian meat. Over the last decade, scientific literature about AGS has been increasing, but the true burden of cases is still unknown [1, 2]. In the USA (University of Virginia Allergy Clinic), the number of confirmed cases of AGS was 24 in 2009 [3] and increased to 34,000 in the entire USA by 2019 [4]. As shown in surveys, in Italy AGS is present throughout the country [5]. The literature suggests that a previous tick bite can cause AGS, but in our case it was not possible to demonstrate this association as the patient did not recall any tick bite, even in childhood. After eating red meat, a 56-year-old male patient had developed symptoms such as a generalized urticaria, diarrhea, and faintness, requiring admission to the Emergency Department. The diagnosis was verified using blood CAP-FEIA test and prick-to-prick test. After completing the diagnostic process, we provided the patient with emergency therapy, and auto-injectable adrenaline was prescribed. Despite the diagnosis, the patient ate red meat once again which resulted in severe urticaria 2 hours after the meal, requiring a second visit to the Emergency Room. Now the patient is under follow-up at our Department of Allergy and Clinical Immunology.
Case Report: Systemic Treatment and Serial Genomic Sequencing of Metastatic Prostate Adenocarcinoma Progressing to Small Cell Carcinoma
Authors: XiaoJun Lu, Wenwen Gao, Yu Zhang, Tao Wang, Hongliang Gao, Qing Chen, Xiaolei Shi, Bijun Lian, Wenhui Zhang, Xu Gao, Jing Li
Journal: Front Oncol (2021)
Keywords: clonal evolution, neuroendocrine differentiation, neuroendocrine prostate cancer, small cell carcinoma, whole-exome sequencing
MeSH terms: Case Reports

Small cell carcinoma (SCC)/neuroendocrine prostate cancer (NEPC) is a rare and highly aggressive subtype of prostate cancer associated with an AR(androgen receptor)-null phenotype and visceral metastases. This study presents a 44-year-old man originally diagnosed with metastatic hormone-sensitive prostatic adenocarcinoma. After 6-month androgen deprivation therapy (ADT) combined with docetaxel, the patient developed paraplegia. Laminectomy was performed, and a thoracic vertebral biopsy revealed neuroendocrine differentiation and mixed adenocarcinoma. The patient developed liver metastases and experienced stable disease for 4 months following etoposide combined with cisplatin and pembrolizumab. Seminal vesicle biopsy after chemotherapy revealed small-cell cancer. The prostate biopsy specimen also indicated pure SCC. We witnessed the dynamic evolution from pure adenocarcinoma to fully differentiated SCC, leading to obstruction and death. In addition, whole-exome sequencing was performed on both biopsy specimens of the thoracic vertebra at the beginning of castration resistance and that of seminal vesicle after multiple lines of treatment failure. Utilizing phylogenetic reconstruction, we observed that both samples shared a common ancestor clone harboring aberrations in the TP53, RB1, and NF2 genes. We also discovered that driver events in the private subclones of both samples, such as alterations in CDC27 and RUNX1, might have played a significant role in tumor progression or even neuroendocrine differentiation. Tumor biopsy and IHC assessment must be repeated at different stages of progression, because of intrapatient spatial and temporal heterogeneity of adenocarcinoma versus SCC/NEPC. Although, typical treatments including ADT, docetaxel, etoposide, cisplatin, and pembrolizumab provided temporary response, the patient still had a poor prognosis.