OpenMed/multicare-articles huggingface dataset:
Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation
Authors: Olivia A Sagan, Anna Rothstein, Bhaghyasree Jambunathan, Mersiha Hadziahmetovic, Anita Antoniolli, M Hammad Rashid
Journal: Front Oncol (2023)
Keywords: egfr mutation, chemotherapy, germline egfr t790m mutation, neuroendocrine breast cancer, triple-negative breast cancer (tnbc)
MeSH terms: Case Reports

Background:
The epidermal growth factor receptor (EGFR) p.Thr790Met (T790M) mutation was discovered as a resistance mechanism in patients with lung cancer treated with first- and second-generation tyrosine kinase inhibitors. Further studies revealed the EGFR T790M mutation in treatment-naive non-small cell lung carcinoma (NSCLC) and as a rare germline mutation strongly associated with NSCLC. Somatic EGFR T790M mutations have been reported in a limited population of patients with triple-negative breast cancer. There are no previous reports of a germline EGFR T790M mutation found in a patient with breast cancer.
Case presentation:
We present a rare case of a 42-year-old woman with a rapidly progressing 8 cm mass in the right lateral breast. An additional right breast mass with multiple lymph nodes characteristic or suspicious of metastasis was found. Ultrasound-guided biopsy showed high-grade, poorly differentiated invasive neuroendocrine carcinoma of the right breast and metastatic carcinoma of a right axillary lymph node. Genetic testing revealed a germline EGFR T790M mutation. The patient underwent neoadjuvant chemotherapy, right mastectomy with lymph node dissection, adjuvant radiation to the right chest wall and axilla, and adjuvant chemotherapy.
Conclusion:
This is the first reported case of a patient with high-grade neuroendocrine carcinoma, triple-negative breast cancer and a germline EGFR T790M mutation. Further investigation is needed to find a possible correlation between the cancer in this patient and her mutation. Since there are no current guidelines, further research is also needed to define screening protocols for patients with germline EGFR T790M mutations. Additional treatment options and cancer risk could also be found with further research, which would benefit all patients with a germline EGFR T790M mutation.
17-Year-Old Boy with Renal Failure and the Highest Reported Creatinine in Pediatric Literature
Authors: Vimal Master Sankar Raj, Jessica Garcia, Roberto Gordillo
Journal: Case Rep Pediatr (2015)

The prevalence of chronic kidney disease (CKD) is on the rise and constitutes a major health burden across the world. Clinical presentations in early CKD are usually subtle. Awareness of the risk factors for CKD is important for early diagnosis and treatment to slow the progression of disease. We present a case report of a 17-year-old African American male who presented in a life threatening hypertensive emergency with renal failure and the highest reported serum creatinine in a pediatric patient. A brief discussion on CKD criteria, complications, and potential red flags for screening strategies is provided.
Paraganglioma of the endolarynx: a rare tumor in an uncommon location
Authors: Joseph R Smolarz, Ehab Y Hanna, Michelle D Williams, Michael E Kupferman
Journal: Head Neck Oncol (2010)
MeSH terms: Laryngeal Neoplasms / pathology, Paraganglioma / pathology, Case Reports, Adult, Aged, Aged, 80 and over, Female, Humans, Laryngeal Neoplasms / radiotherapy, Laryngeal Neoplasms / surgery, Male, Middle Aged, Paraganglioma / radiotherapy, Paraganglioma / surgery, Retrospective Studies, Treatment Outcome

Background:
Less than 80 reported cases of paragangliomas of the larynx are reported in the literature. A role for external beam radiation in this disease has not yet been explored. We present four cases of laryngeal paragangliomas treated at a large tertiary-care cancer center over a 35-year period.
Methods:
124 cases of head and neck paragangliomas treated at a single institution from 1970 to 2005 were retrospectively studied. Patients with laryngeal paragangliomas were identified, and a comprehensive clinico-pathological review was undertaken.
Results:
We identified 4 patients with tumors arising in the larynx at the following subsites: supraglottis (2), glottis (1), and subglottis (1). Three patients were treated with surgery and one with definitive radiation alone.
Conclusions:
Laryngeal paragangliomas are rare tumors and are adequately treated with surgical resection. We also present one patient who was treated with radiation and had disease stabilization. Accurate histological classification is critical, and the role of genetic testing is emerging.
The use of non-invasive fetal electrocardiography in diagnosing second-degree fetal atrioventricular block
Authors: Igor Lakhno, Joachim A Behar, Julien Oster, Vyacheslav Shulgin, Oleksii Ostras, Fernando Andreotti
Journal: Matern Health Neonatol Perinatol (2017)
Keywords: atrioventricular block, fetal monitoring, non-invasive fetal electrocardiography
MeSH terms: Case Reports

Background:
Complete atrioventricular block in fetuses is known to be mostly associated with autoimmune disease and can be irreversible if no steroids treatment is provided. Conventional methods used in clinical practice for diagnosing fetal arrhythmia are limited since they do not reflect the primary electrophysiological conduction processes that take place in the myocardium. The non-invasive fetal electrocardiogram has the potential to better support fetal arrhythmias diagnosis through the continuous analysis of the beat to beat variation of the fetal heart rate and morphological analysis of the PQRST complex.
Case presentation:
We present two retrospective case reports on which atrioventricular block diagnosis could have been supported by the non-invasive fetal electrocardiogram. The two cases comprised a 22-year-old pregnant woman with the gestational age of 31 weeks and a 25-year-old pregnant woman with the gestational age of 41 weeks. Both women were admitted to the Department of Maternal and Fetal Medicine at the Kyiv and Kharkiv municipal perinatal clinics. Patients were observed using standard fetal monitoring methods as well as the non-invasive fetal electrocardiogram. The non-invasive fetal electrocardiographic recordings were analyzed retrospectively, where it is possible to identify the presence of the atrioventricular block.
Conclusions:
This study demonstrates, for the first time, the feasibility of the non-invasive fetal electrocardiogram as a supplementary method to diagnose of the fetal atrioventricular block. Combined with current fetal monitoring techniques, non-invasive fetal electrocardiography could support clinical decisions.
Case Report: A Novel Activating FLT3 Mutation in Acute Myeloid Leukemia
Authors: Samantha Bruno, Lorenza Bandini, Agnese Patuelli, Valentina Robustelli, Claudia Venturi, Manuela Mancini, Dorian Forte, Sara De Santis, Cecilia Monaldi, Alessandra Grassi, Gabriella Chiurumbolo, Stefania Paolini, Gianluca Cristiano, Cristina Papayannidis, Chiara Sartor, Jacopo Nanni, Emanuela Ottaviani, Antonio Curti, Michele Cavo, Simona Soverini
Journal: Front Oncol (2021)
Keywords: flt3 mutation, ngs - next generation sequencing, acute myeloid leukemia, midostaurin, targeted therapy
MeSH terms: Case Reports

FMS-like tyrosine kinase 3 (FLT3) is among the most common driver genes recurrently mutated in acute myeloid leukemia (AML), accounting for approximately 30% of cases. Activating mutations of the FLT3 receptor include internal tandem duplications (ITD) that map to the auto-inhibitory juxtamembrane (JM) domain or point mutations within the tyrosine kinase domain (TKD). Several FLT3 tyrosine kinase inhibitors have been developed in the last few years, but midostaurin is currently the only one approved for the treatment of newly diagnosed patients harboring FLT3 mutations. Here we describe for the first time a novel in-frame deletion in exon 14 (JM domain) of the FLT3 gene, that we identified in a young woman with CBFb-MYH11-positive AML. We demonstrated that this novel FLT3 variant is pathogenic, since it is responsible for constitutive activation of FLT3 receptor. Finally, ex-vivo studies demonstrated that this novel mutation is sensitive to midostaurin.
Progressive painless lower limbs weakness in a dialyzed patient: undiagnosed tertiary syphilis: a case report
Authors: O Dahmani, N Target, Jp Guy, S Belkhelfa, F Mermet Jeanvoine, J Servonnat, J Djellid
Journal: Cases J (2010)

Introduction:
Syphilis is a sexually transmitted disease, remaining under-estimated, under-recognized due to the variability of clinical presentation and ageing of the population with chronic comorbidities. Hence, some manifestations of the past are nowadays superimposed on the course of chronic diseases. Clinical suspicion should be guided by past medical history of contracting any other sexual disease in a heterosexual person or man who has sex with man.
Case presentation:
We describe a rare case of tertiary syphilis in a hemodialyzed diabetic patient whom was career of chronic liver disease due to the evolution of chronic hepatitis B virus infection complicated by a hepatocellular carcinoma. Initial orientation in diagnosing this rare presentation of progressive painless lower limbs weakness was attributed to possible side effects of ongoing anti viral therapy including lamivudine and adefovir. We continued administering both drugs while patient notified a spectacular improvement under Ceftriaxone therapy introduced empirically for a possible chest infection. Routine ophthalmologic examination realized in a teaching hospital, scheduled without knowing the course of late infection showed the presence of a syphilitic uveitis.
Conclusion:
This case emphasizes the need for a high index of clinical suspicion for syphilis before the occurrence of symptoms related to its end organ damage dominated by neurosyphilis form. Early diagnosis is the key to preventing significant morbidity and mortality and improving prognosis. However, in the setting of chronic diseases such as chronic kidney diseases either before setting up methods of renal replacement therapy or under immune-suppressive therapy; clinical presentation might resemble any disease, delaying the certitude of the diagnosis by prescribing a rapid plasma reagin.
Isolated duodenal perforation at D4 following blunt abdominal trauma
Authors: Marilynn Omondi, Irene Mutua, Dan Kiptoon
Journal: Int J Surg Case Rep (2020)
Keywords: blunt abdominal trauma, case report, duodenal injury, high index of suspicion, peritonitis
MeSH terms: Case Reports

Introduction:
Isolated duodenal injuries are particularly rare in blunt abdominal trauma as the duodenum is at a deep and relatively well-protected anatomical site.
Case presentation:
We present a case report of a 22-year-old male patient who presented to an accident and emergency department at a tertiary training hospital within four hours of sustaining blunt abdominal trauma. His vital signs were stable at this point and was found to have slight abdominal tenderness in the epigastric area with no abdominal rigidity and normal bowel sounds on auscultation. A CT Scan of the abdomen done was normal. He was admitted to the surgical ward for serial abdominal monitoring. Eight hours into his admission, his physical condition deteriorated necessitating an emergency laparotomy where a perforation of D4 on the anterior wall was found. This was repaired primarily and he had a relatively calm post-operative stay in the surgical ward and was discharged home.
Discussion:
Diagnosis of blunt duodenal injury is often delayed because of its retroperitoneal nature. Initial clinical changes in isolated duodenal injury may be extremely subtle before peritonitis sets in. It is therefore important to consider both mechanism of injury and other clinical signs such as tachycardia and raised white cell count as delays in diagnosis and subsequent management adversely affect morbidity and mortality.
Conclusion:
Timely management of this rare and life threatening injury is hinged on a high index of suspicion in spite of what previous imaging may show to the surgeon.
Eosinophilic Esophagitis in Two Patients with Systemic Sclerosis
Authors: Tracy M Frech, Kathleen Boynton, Erinn Downs-Kelly, Bryan Jones, John D Kriesel, Kathryn Peterson
Journal: Case Rep Rheumatol (2016)

The gastrointestinal tract (GIT) is the most common extracutaneous organ system damaged in systemic sclerosis (SSc) and is the presenting feature in 10% of patients. The esophagus as the portion of the GIT is the most commonly affected and there is an association of gastroesophageal reflux (GER) with SSc interstitial lung disease (ILD). Thus, an aggressive treatment for GER is recommended in all SSc patients with ILD; however, it is recognized that a long-term benefit to this treatment is needed to understand its impact. In this case report we discuss the presence of eosinophilic esophagitis (EoE) in two SSc patients and discuss the role for early EGD in SSc patients with moderate-severe GER symptoms for tissue study. Assessment of esophageal biopsy specimens for the presence of eosinophils and possibly ANA can help elucidate disease pathogenesis and direct therapy, as the presence of EoE in SSc has important management considerations, particularly with regards to dietary modification strategies.
Attempted Suicide in a Parkinsonian Patient Treated with DBS of the VIM and High Dose Carbidopa-Levodopa
Authors: Ayotunde Ayobello, Brian Saway, Michael Greenage
Journal: Case Rep Psychiatry (2019)
MeSH terms: Case Reports

Introduction:
Parkinson's disease (PD) is a complex disease that is often treated with dopaminergic medications such as carbidopa-levodopa and now with innovative interventions such as deep brain stimulation (DBS). While PD frequently presents with depression and apathy, research must elucidate whether its treatment modalities have an additive or synergistic effect that can lead to an increased suicide risk. DBS has been associated with depression, behavioral changes, and suicidality while dopaminergic treatment has also been shown to cause behavioral changes such as hypersexuality and impulsivity. Considering the now frequent practice of utilizing both DBS and carbidopa-levodopa to treat PD, it is crucial to understand how to properly manage PD patients who are displaying this overlap in symptomology.
Case report:
A 56-year-old Caucasian male with a 6-year diagnosis of PD who was being treated with high dose carbidopa-levodopa and left DBS of the ventral intermediate nucleus (VIM) presented after a suicide attempt. The patient was found to be severely depressed and had exhibited behavioral changes in the weeks leading up to the attempt. Imaging was performed to assess positional changes of DBS and carbidopa-levodopa dosage adjusted while under close observation in the inpatient unit. The patient was started on fluoxetine to treat the depressive symptoms and was eventually discharged with close monitoring.
Discussion:
With PD and DBS being associated with behavioral changes and depressive symptoms and carbidopa-levodopa therapy being linked to behavioral changes such as impulsivity, it is important that these patients be closely monitored and research analyzes how these factors may interact and lead to an increased risk of suicide. Furthermore, when symptoms appear, a clear protocol must be established on managing these patients. We therefore recommend an approach that utilizes imaging to assess any changes in DBS placement, dose management of carbidopa-levodopa, and behavior monitoring in an inpatient setting.
Squamous Cell Carcinoma With Unusual Benign-Appearing Cystic Features on Histology
Authors: Usman Asad, Suzanne Alkul, Ikue Shimizu, Jennifer Ranario
Journal: Cureus (2023)
Keywords: cyst, frozen sections, histopathology, milia, mohs surgery, squamous cell carcinoma
MeSH terms: Case Reports

Squamous cell carcinoma (SCC) is a malignancy that arises from keratinocytes of the epidermis. Cystic variants of several types of cutaneous neoplasms have been rarely described in the literature. We report a case of biopsy-proven, well-differentiated invasive SCC treated with Mohs surgery. On frozen sections, the pathology slides showed benign-appearing cystic structures in the margins that persisted after it had appeared that the original malignancy had been cleared. After taking another Mohs stage due to clinical suspicion, additional SCC was found and was subsequently cleared after two more Mohs stages. To the best of our knowledge, this is the first report to histologically demonstrate biopsy-proven invasive SCC with benign-appearing cystic structures on frozen sections.
Concurrence of Rheumatoid Arthritis and Ankylosing Spondylitis: Analysis of Seven Cases and Literature Review
Authors: Bryan-Josué Flores-Robles, Eztizen Labrador-Sánchez, Estíbaliz Andrés-Trasahedo, Valvanera Pinillos-Aransay, María-Yasmina Joven-Zapata, Laura Torrecilla Lerena, Osman-Alberto Salazar-Asencio, Juan-Antonio López-Martín
Journal: Case Rep Rheumatol (2022)
MeSH terms: Case Reports

Introduction:
The association of rheumatoid arthritis (RA) and ankylosing spondylitis (AS) in a single patient is a rarely described phenomenon. AS and RA are conditions that can have a high impact on the morbidity and mortality of patients.
Methods:
We described the clinical, epidemiological, analytical, and radiological characteristics of 81 patients with concomitant diagnosis of rheumatoid arthritis (RA) and ankylosing spondylitis (AS). Of these patients, seven were diagnosed at our hospital. A literature review was carried out using Medline, Embase, Scopus, and virtual hospital libraries, including the period from January 1950 to April 2020.
Results:
Regarding the results, 71% of the patients were men, with a mean age of 53 years (±14.83). RA was the first disease diagnosed in 52% of the cases. Approximately 53% of the patients had rheumatoid nodules, and 83% reported inflammatory lumbar pain during their evaluation. Erosions were observed on radiographs of the hands and/or feet in 85% of the cases, and almost all the patients (80/81) had sacroiliitis on imaging studies. Approximately 92% of the cases were rheumatoid factor (RF) positive and 90% HLA B-27 positive.
Conclusions:
The coexistence of RA and AS is highly uncommon. With the data obtained in this review, it seems that there exist erosive radiological patterns, positivity for RF, involvement of the axial skeleton, and rheumatoid nodules at a higher frequency than those patients with a single diagnosis of the two entities. More data are needed to corroborate this association.
Case report: Endovascular embolization of a cerebral pseudoaneurysm caused by SARS-CoV2 infection
Authors: Juan Antonio García-Carmona, Enzo von Quednow, Francisco Hernández-Fernández, Juan David Molina-Nuevo, Jorge García-García, María Palao, Tomás Segura
Journal: Front Neurol (2022)
Keywords: cloccs, covid-19, guillain-barre syndrome, embolization (therapeutic), pseudoaneurysm, subarachnoid hemorrhage
MeSH terms: Case Reports

Background:
Severe COVID-19 has been shown to produce convulsions, encephalitis, Guillain-Barré syndrome, or cerebrovascular disease. However, only 4 case reports described subarachnoid or brain hemorrhage caused by ruptured cerebral aneurysms or pseudoaneurysms in patients with COVID-19. Cerebral pseudoaneurysms represent <1% of all intracranial aneurysms and have been related to radiation therapy, vasculitis, rupture of true saccular aneurysms, arteriovenous malformations, and infections by bacteria and viruses, such as Epstein-Bar and Herpes virus.
Case presentation:
A 28-year-old Caucasian woman, with no medical history of interest and completely vaccinated against SARS-CoV-2, was admitted to Neurology due to progressive tetraparesis with areflexia, a cough, and a fever of 38°C. SARS-CoV2 PCR was positive while lumbar puncture, blood tests, and electromyogram showed criteria for Guillain-Barré syndrome. Despite the treatment, the patient developed dyspnea and tetraplegia requiring invasive mechanical ventilation. There was motor neurological improvement but a decreased level of consciousness was observed on day 13. A brain CT scan demonstrated an acute haematoma and cerebral arteriography showed a 4-mm pseudoaneurysm located in a branch of the left middle cerebral artery. Given the high risk of rebleeding, endovascular treatment was decided upon. Therefore, complete embolization of the pseudoaneurysm was carried out by using the synthetic glue N-butyl-cyanocrylate. Two days later, the patient was clinically and neurologically recovered and was discharged. Lastly, a new angiography showed no evidence of the pseudoaneurysm 3-weeks later.
Conclusions:
We report, for the first time, a patient suffering a severe immune reaction caused by SARS-CoV2 infection and developing a cerebral pseudoaneurysm treated with endovascular embolization without complications.
Syphilitic Aortic Aneurysm in a Young HIV-Infected Man: Case Presentation
Authors: Juan Carlos Cataño, Isabel Cristina Ramirez
Journal: Case Rep Infect Dis (2011)
MeSH terms: Case Reports

We describe the case of a young HIV-positive man who presented to the emergency room in hypovolemic shock. During subsequent evaluation, we documented a huge aortic aneurysm consistent with tertiary syphilis. The final autopsy demonstrated the extent of cardiovascular compromise caused by this aneurysm.
The Influence of Work Environment on Employee's Psychological Relationship: A Case Study of Japanese Literature
Authors: Ziyu Xin
Journal: Occup Ther Int (2022)
MeSH terms: Occupational Therapy, Humans, Japan, Self Efficacy, Surveys and Questionnaires, Workplace

The new generation of employees grows up in the environment of rapid economic development, fierce competition, diversified values, and multiple channels of cultural communication, and their unique growth environment creates characteristics such as their unstable psychological state, poor adjustment ability, and significant self-awareness. The special psychological condition of the new generation employees will affect their own development and that of the organization. How to effectively manage the psychological capital of new generation employees has become an urgent problem for modern human resource management. Based on the social exchange theory and resource conservation theory, this study explores the relationship between the psychological capital of new generation employees and their job performance and propensity to leave and proposes research hypotheses and research models. Based on the survey data of 330 new generation employees, SPSS software was used to analyze the data and test the hypotheses. The psychological capital, job performance, and turnover tendency of new generation employees differed to different degrees in terms of age, education, years of work experience, and position level. The psychological capital of the new generation employees had a significant negative effect on the propensity to leave. Psychological capital had a significant positive effect on the relational performance dimension of job performance, and among the four dimensions of psychological capital, resilience and optimism had a significant positive effect on relational performance, while self-efficacy and hope had no significant effect on relational performance. The psychological capital of new generation employees mainly contributes to task performance through hope, resilience, and optimism and to relational performance through resilience and optimism.