OpenMed/multicare-articles huggingface dataset:
Metastatic Invasive Lobular Breast Cancer Presenting Clinically with Esophageal Dysphagia
Authors: Lilit Karapetyan, Heather Laird-Fick, Reuben Cuison
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Background. Intra-abdominal metastases of invasive lobular breast cancer (ILBC) may be insidious. We report a case of metastatic ILBC that presented with dysphagia within weeks of a negative mammogram and before the development of intra-abdominal symptoms. Case. A 70-year-old female developed esophageal dysphagia. She underwent EGD which showed a short segment of stricture of the distal esophagus without significant mucosal changes. Biopsy was unremarkable and patient underwent lower esophageal sphincter (LES) dilation. Severe progressive dysphagia led to esophageal impaction and three LES dilatations. CT scan showed bilateral pleural effusions, more prominent on right side, and ascites. The pleural effusions were transudative. Repeat EGD with biopsy showed lymphocytic esophagitis, and she was started on swallowed fluticasone. Abdominal ultrasound with Doppler showed that the main portal vein had atypical turbulent flow that was felt to possibly be due to retroperitoneal process. The patient underwent diagnostic laparoscopy which revealed diffuse punctate lesions on the peritoneum. Pathology was consistent with metastatic ILBC. Conclusion. Dysphagia in the setting of peritoneal carcinomatosis from metastatic ILBC is a rare finding. The case highlights the importance of metastatic ILBC as a differential diagnosis for female patients with progressive dysphagia and associated ascites or pleural effusions.
Avelumab-Induced Scleroderma in a Patient with Metastatic Squamous Cell Carcinoma of the Lung
Authors: Jeffrey L Dobrzynski, Blake E Vest, Brian L Swick
Journal: Case Rep Dermatol Med (2022)
MeSH terms: Case Reports

Immune checkpoint inhibitors are associated with a spectrum of cutaneous immune-related adverse events. While maculopapular eruptions are the most common cutaneous adverse event, scleroderma can rarely develop. Herein, we report a case of new-onset scleroderma associated with avelumab treatment in the setting of metastatic squamous cell carcinoma of the lung. The pathophysiology of immune checkpoint inhibitor-induced scleroderma is not completely understood. A proposed mechanism is discussed along with the clinical presentation of symptoms and associated therapeutic response in cancer treatment. This case contributes to the few existing reports of immune checkpoint inhibitor-induced scleroderma to better understand the implications in the management of cutaneous immune-related adverse events.
​​Longitudinal Erythronychia Secondary to a Wooden Splinter
Authors: Travis S Dowdle, Blayne Fenner, Dylan Maldonado, Jeremy Purser, Michelle Tarbox
Journal: Cureus (2023)
Keywords: dermatopathology, dermoscopy, longitudinal erythronychia, splinter, subungal keratosis
MeSH terms: Case Reports

Longitudinal erythronychia (LE) is a term for red streaks in the nail which can be caused by a range of diseases. The specific type of longitudinal erythronychia can correlate with certain associated conditions making it important to properly categorize when discovered. A 71-year-old Hispanic male presented to the clinic with a type 1A LE associated with subungual keratosis that had been asymptomatic for approximately 12 months. The patient denied injury, pain, cold sensitivity, or cosmetic distress. The working diagnosis was squamous cell carcinoma in situ (SCCIS) vs. onychopapilloma or glomus tumor. A 4mm punch biopsy from the distal nail matrix was performed, and dermatopathology revealed that the LE was secondary to a wooden splinter. After a literature review, it was discovered that this is the first confirmed case of LE secondary to a splinter. Future providers should keep splinters as a potential differential diagnosis, especially as they evaluate LE, but ultimately all suspicious type IA lesions should be biopsied to rule out potential insidious pathologies, such as SCCIS and malignant melanoma.
Hemifacial Pain and Hemisensory Disturbance Referred from Occipital Neuralgia Caused by Pathological Vascular Contact of the Greater Occipital Nerve
Authors: Byung-Chul Son, Jin-Gyu Choi
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Here we report a unique case of chronic occipital neuralgia caused by pathological vascular contact of the left greater occipital nerve. After 12 months of left-sided, unremitting occipital neuralgia, a hypesthesia and facial pain developed in the left hemiface. The decompression of the left greater occipital nerve from pathological contacts with the occipital artery resulted in immediate relief for hemifacial sensory change and facial pain, as well as chronic occipital neuralgia. Although referral of pain from the stimulation of occipital and cervical structures innervated by upper cervical nerves to the frontal head of V1 trigeminal distribution has been reported, the development of hemifacial sensory change associated with referred trigeminal pain from chronic occipital neuralgia is extremely rare. Chronic continuous and strong afferent input of occipital neuralgia caused by pathological vascular contact with the greater occipital nerve seemed to be associated with sensitization and hypersensitivity of the second-order neurons in the trigeminocervical complex, a population of neurons in the C2 dorsal horn characterized by receiving convergent input from dural and cervical structures.
Radiotherapy combined with immunotherapy successfully treated one case of anaplastic thyroid cancer: A case report
Authors: Yurou Xing, Yongsheng Wang, Xin Wu
Journal: Front Oncol (2023)
Keywords: pd-1 inhibitor, anaplastic thyroid carcinoma, immunotherapy, radiotherapy, tislelizumab
MeSH terms: Case Reports

Background:
Anaplastic thyroid cancer (ATC) is a rare but highly fatal form of thyroid cancer. This highly malignant tumor progresses rapidly and is prone to relapse and metastasis, with a poor prognosis. Novel treatments have improved survival in recent years, but the outcome of treatment is not satisfactory.
Case presentation:
We report a case of multiple postoperative recurrences of papillary thyroid carcinoma that later transformed into undifferentiated carcinoma. The patient's neck mass was huge and the operation was unsuitable. Then, she achieved remarkable tumor shrinkage by tislelizumab immunotherapy combined with radiotherapy.
Conclusion:
This case indicates that radiotherapy combined with immunotherapy is a promising treatment for ATC. Such a combined approach warrants further study.
Case Report: Afatinib Sensitivity in Rare EGFR E746_L747delinsIP Mutated LUAD With Peritoneal Metastases
Authors: Lili Zhang, Lu Yang, Binxu Sun, Yixiao Deng, Jie Yang, Dongfang Wu, Fanming Kong
Journal: Front Oncol (2022)
Keywords: egfr e746_l747delinsip, afatinib, lung adenocarcinoma, peritoneal carcinomatosis, sensitive
MeSH terms: Case Reports

Patients with non-small cell lung cancer harboring the epidermal growth factor receptor (EGFR)-sensitive mutations are known to benefit significantly from EGFR tyrosine kinase inhibitors (TKIs), such as erlotinib, gefitinib, icotinib, or afatinib. However, the efficacy of EGFR-TKIs against rare mutations has not yet been well investigated. Here, we report a female patient with advanced lung adenocarcinoma (LUAD), carrying a rare mutation of EGFR Exon19 E746_L747delinsIP, who was administered first-generation EGFR-TKIs as the first-line treatment. The patient continued to progress slowly until peritoneal metastases have occurred. Subsequently, the patient was treated with anlotinib for 5 months until disease progression. Given the finding of the same EGFR rare mutation in peritoneal effusion without other EGFR-TKI resistance mutations, the patient received afatinib with a tremendous response. Our results may be of clinical relevance for patients with LUAD carrying this rare mutation, and these findings warrant further investigation.
Effectiveness of the AS03-adjuvanted vaccine against pandemic influenza virus A/(H1N1) 2009--a comparison of two methods; Germany, 2009/10
Authors: Helmut Uphoff, Matthias An der Heiden, Brunhilde Schweiger, Hartmut Campe, Dietmar Beier, Carina Helmeke, Martina Littmann, Walter Haas, Silke Buda, Daniel Faensen, Marcel Feig, Doris Altmann, Ole Wichmann, Tim Eckmanns, Udo Buchholz
Journal: PLoS One (2011)
MeSH terms: Adjuvants, Immunologic / therapeutic use, Influenza A Virus, H1N1 Subtype / immunology, Influenza Vaccines / therapeutic use, Influenza, Human / drug therapy, Influenza, Human / immunology, Pandemics / prevention & control, Comparative Study, Adolescent, Adult, Age Distribution, Aged, Aged, 80 and over, Case-Control Studies, Child, Child, Preschool, Female, Germany / epidemiology, Humans, Infant, Infant, Newborn, Influenza Vaccines / immunology, Influenza, Human / epidemiology, Influenza, Human / virology, Logistic Models, Male, Middle Aged, Multivariate Analysis, Treatment Outcome, Vaccination, Young Adult, Adjuvants, Immunologic, Influenza Vaccines

During the autumn wave of the pandemic influenza virus A/(H1N1) 2009 (pIV) the German population was offered an AS03-adjuvanted vaccine. The authors compared results of two methods calculating the effectiveness of the vaccine (VE). The test-negative case-control method used data from virologic surveillance including influenza-positive and negative patients. An innovative case-series methodology explored data from all nationally reported laboratory-confirmed influenza cases. The proportion of reported cases occurring in vaccinees during an assumed unprotected phase after vaccination was compared with that occurring in vaccinees during their assumed protected phase. The test-negative case-control method included 1,749 pIV cases and 2,087 influenza test-negative individuals of whom 6 (0.3%) and 36 (1.7%), respectively, were vaccinated. The case series method included data from 73,280 cases. VE in the two methods was 79% (95% confidence interval (CI) = 35-93%; P = 0.007) and 87% (95% CI = 78-92%; P<0.001) for individuals less than 14 years of age and 70% (95% CI = -45%-94%, P = 0.13) and 74% (95% CI = 64-82%; P<0.001) for individuals above the age of 14. Both methods yielded similar VE in both age groups; and VE for the younger age group seemed to be higher.
A 36-Year-Old Renal Transplant Recipient Female with Leg Ulcer: A Case Report and Brief Review
Authors: Ali Monfared, Eftekhari Hojat, Seyed Alireza Mesbah, Abbas Darjani, Seyyede Zeinab Azimi
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Background:
Opportunistic infections are common in organ transplant recipients. After 6 months of transplantation, patients have the highest risk of opportunistic infections such as cryptococcosis.
Case presentation:
The report presents the case of a 36-year-old female renal transplant recipient, with complaints of few subcutaneous painful and warm nodules and large, warm, erythematous, nontender plaques on the mildly edematous right leg and ankle. Incisional biopsy of the subcutaneous nodule over the leg showed panniculitis with small- to medium-sized vasculitis associated with round yeast forms, and culture of the fragments revealed C. neoformans var. grubii.
Conclusions:
This article also reviews in brief the treatment of this rare complication. Reviewing the literature showed that since the cryptococcal cutaneous lesions are often nonspecific, the clinical picture solely is not enough to construct a definite diagnosis and there must be a high clinical suspicion.
Primary Signet-Ring Cell Adenocarcinoma of the Urinary Bladder Treated with Partial Cystectomy: A Case Report and Review of the Literature
Authors: Umesh Jayarajah, D M Hilary Fernando, Kasun Bandara Herath, M V Chandu de Silva, S A S Goonewardena
Journal: Case Rep Urol (2017)
MeSH terms: Case Reports

Primary signet-ring cell carcinoma is a variant of adenocarcinoma which is extremely rare, associated with poor prognosis and generally found to be resistant to chemotherapy and radiotherapy. We report a case of primary signet-ring cell carcinoma of the bladder which was successfully treated with partial cystectomy. A 71-year-old female with a history of type 2 diabetes, hypertension, and ischaemic heart disease presented with painless haematuria for 2 months' duration. The abdominal ultrasonography showed a localised polypoidal vesical growth arising from the bladder dome. Cystoscopy revealed an exophytic solid tumour in the anterior fundal wall. A deep transurethral resection of bladder tumour was done and histology revealed an adenocarcinoma composed of mucinous and signet-ring cell components. Later, considering the patient's age and the poor general condition, a partial cystectomy was done. Follow-up cystoscopy and ultrasonography were done at 12 months and there was no evidence of tumour recurrence and the patient is currently symptom-free. Partial cystectomy may be considered in patients with localised tumour without evidence of metastasis and poor general condition. Regular cystoscopies and ultrasound imaging are necessary for follow-up and early identification of recurrences.
Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion
Authors: Signe Faurschou, Dorte L Lildballe, Lisa L Maroun, Morten Helvind, Maria Rasmussen
Journal: Case Rep Genet (2021)
MeSH terms: Case Reports

In this clinical report, we describe a male infant and his mother, who had similar congenital heart defects. They were both diagnosed neonatally with total anomalous pulmonary venous connection (TAPVC) in combination with other heart defects. Neither of the two had any other organ malformations or dysmorphic facial features. SNP-array identified a central 22q11.2 microdeletion in the male infant and his mother as well as in the maternal grandmother and maternal aunt. The mother and the maternal aunt additionally harbored a 15q11.2 BP1-BP2 microdeletion. The maternal grandmother was unaffected by heart disease. However, heart computed tomography scan of the maternal aunt revealed a quadricuspid aortic valve. Additionally, the maternal grandmother and the maternal aunt both had significant learning disabilities. Rarely, TAPVC has been described in patients with the common 22q11.2 microdeletions. However, to the best of our knowledge, TAPVC has not previously been reported in patients with this small central 22q11.2 microdeletion. Haploinsufficiency of TBX1 was originally thought to be the main cause of the 22q11.2 microdeletion syndrome phenotype, but TBX1 is not included in the atypical central 22q11.2 microdeletion. Previous reports have suggested an association between TAPVC and the 15q11.2 BP1-BP2 microdeletion. Our report does not support this association as the maternal aunt, who harbors both microdeletions, is unaffected by TAPVC, and the male infant affected by TAPVC does not harbor the 15q11.2 BP1-BP2 microdeletion. Our findings support that genes located in the central 22q11.2 region are important for heart development and that haploinsufficiency of these genes plays a crucial role in the development of the rare heart defect TAPVC.
Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features
Authors: Sira Korpaisarn, Objoon Trachoo, Chutintorn Sriphrapradang
Journal: Case Rep Endocrinol (2013)

We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.
Beta-Blocker and Calcium Channel Blocker Toxicity With BRASH Syndrome: A Case Report
Authors: Adolfo Martinez, Niket Shah, Andrew Kim, Kevin Watat, Sandeep Banga
Journal: Cureus (2023)
Keywords: beta blocker, bradycardia, brash syndrome, calcium channel blocker, case report, hyperkalemia, renal failure
MeSH terms: Case Reports

Atrioventricular (AV) nodal blockers have a wide variety of medical uses, including the management of hypertension and cardiac arrhythmias. Like any other drug, they can carry side effects and toxicity. We present a case of a patient with a constellation of findings consistent with bradycardia, renal failure, AV nodal blockade, shock, and hyperkalemia (BRASH) syndrome. A 75-year-old female with a history of paroxysmal atrial fibrillation and heart failure with preserved ejection fraction presented to the hospital with shortness of breath. She was discharged two weeks prior to the presentation from another hospital after being treated for atrial fibrillation with a rapid ventricular response. She was discharged on metoprolol and diltiazem. Upon presentation to the hospital, the patient was noted to be bradycardic and hypotensive with blood work notable for acute kidney injury and hyperkalemia, consistent with BRASH syndrome. She received a dose of intravenous (IV) glucagon followed by infusion and received epinephrine infusion. Once clinically stable, she was discharged with her home dose of metoprolol and a reduced dose of diltiazem with a close follow-up with cardiology. Early recognition of BRASH syndrome as a unique clinical entity rather than different pathologic conditions is important to improve morbidity and mortality in these patients.
Transient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function
Authors: Takeshi Tsuda, Amanda J Shillingford, Jane Vetter, Vinay Kandula, Badal Jain, Joel Temple
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Danon disease is a rare X-linked dominant skeletal and cardiac muscle disorder presenting with hypertrophic cardiomyopathy, Wolf-Parkinson-White syndrome, skeletal myopathy, and mild intellectual disability. Early morbidity and mortality due to heart failure or sudden death are known in Danon disease, more in males than in females. Here, we present a 17-year-old female adolescent with Danon disease and severe concentric hypertrophy with normal left ventricular (LV) systolic function, who has been complaining of intermittent headache and weakness for about 3 years, initially diagnosed with hemiplegic migraine. Subsequently, her neurological manifestation progressed to transient ischemic attack (TIA) and eventually to ischemic stroke confirmed by CT scan with 1-day history of expressive aphasia followed by persistent left side weakness and numbness. Detailed echocardiogram for the first time revealed a small LV apical thrombus with unchanged severe biventricular hypertrophy and normal systolic function. This unexpected LV apical thrombus may be associated with a wide spectrum of neurological deficits ranging from TIA to ischemic stroke in Danon disease. Possibility of cerebral ischemic events should be suspected in Danon disease when presenting with neurological deficits even with normal systolic function. Careful assessment for LV apical thrombus is warranted in such cases.
Concurrent infection with dengue and malaria: an unusual presentation
Authors: Mohsin Bin Mushtaq, Mehmood I Qadri, Aaliya Rashid
Journal: Case Rep Med (2013)

Dengue and malaria are both endemic in South Asia and represent a major public health burden in this region. Though there have been some case reports of concurrent infection with dengue and malaria, yet there are only few cases of such infections reported from South Asia. Here, we present a case of a young male returning from a dengue endemic area who tested positive for the virus along with Plasmodium vivax and Plasmodium falciparum. In view of the severity of coinfection (Epelboin et al., 2012), overlapping symptoms, and a challenging obscurity of diagnosis, a multidimensional diagnostic approach is suggested.
Camrelizumab-Related Lethal Arrhythmias and Myasthenic Crisis in a Patient with Metastatic Thymoma
Authors: Bo Zhang, Laxman Gyawali, Zengzhang Liu, Huaan Du, Yuehui Yin
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

Immune checkpoint inhibitors (ICIs) have emerged in recent years as promising treatment options for several malignant tumors. However, ICI therapy has also been associated with various immune-related adverse events (irAEs), especially for patients with preexisting autoimmune status, which sometimes can be life-threatening. A 68-year-old woman diagnosed with metastatic thymoma was treated with camrelizumab, a new ICI, as her antitumor protocol. Eleven days after the first dose of camrelizumab, the patient was admitted to our hospital with symptoms of dyspnea, fatigue, and poor appetite. Workups on admission indicated dramatically elevated transaminase, troponin I, creatine kinase, and a new-onset conduction abnormality on electrocardiography. After detailed evaluation, ICI-related myocarditis, myositis, and hepatitis were diagnosed, and therapies including intravenous methylprednisolone were administered. Coronary angiography was performed to exclude acute coronary syndrome due to dynamic electrocardiography changes on day 3. She lapsed into a coma with respiratory muscle failure on the next day, which was highly suspected of myasthenic crisis. Mechanical ventilation and higher dose of methylprednisolone plus intravenous immunoglobulin were applied immediately. However, the third atrioventricular block occurred within the same day, and an urgent temporary pacemaker was placed. More seriously, refractory ventricular tachycardia (VT) occurred subsequently, and even multiple antiarrhythmic drugs used in combination failed to alleviate the VT storm. On day 5 of hospitalization, she suffered from ventricular fibrillation and died of cardiac arrest. In clinical practice, close follow-up should be conducted after ICI treatment, especially for patients already with or at high risk for autoimmune disorders. A multidisciplinary team approach is of importance for better management of patients with multiple organ involvement.
First Two Cases of Conservative Treatment for Extreme Proximal Penile Fracture of the Corpora Cavernosa
Authors: Alicia Blondeau, Aurélie Grandmougin, Clément Larose, Charles Mazeaud
Journal: Case Rep Urol (2023)
MeSH terms: Case Reports

Penile fracture is a urological emergency, and surgery is usually recommended to prevent complications. However, proximal locations are scarce and not well investigated. We present two rare penile fractures involving the proximal corpora cavernosa with an original conservative strategy to manage this clinical presentation. Twenty-five- and thirty-eight-year-old men with no previous medical history were admitted to the emergency room for penile trauma during sexual intercourse a few months apart. Both presented with "butterfly pattern" ecchymosis with a palpable hematoma on the perineum. They had no hematuria or voiding dysfunction. Ultrasound found a hematoma and a tear of the proximal corpus cavernosum for the younger one. Then, an MRI confirmed a longitudinal fracture of the right corpus cavernosum for the first patient and left for the second, without urethral injury. In agreement with the patients facing this atypical presentation, we proposed a conservative treatment with analgesics, monitoring, and advice to stop sexual activity for three weeks. After six weeks and four weeks, respectively, we performed a clinical evaluation and a second MRI that found no residual tear or hematoma. The IIEF-5 questionnaire was 24/25 and 25/25. The patients were clinically symptom-free at 8 and 11 months of follow-up. Extreme proximal fracture of the corpus cavernosum can be managed conservatively in selected situations. MRI is useful for decision-making by confirming the diagnosis and location to avoid surgery.