OpenMed/multicare-articles huggingface dataset:
Unilateral Proptosis (Exophthalmos) Caused by Axillary-Subclavian Venous Thrombosis in a Patient with Upper Extremity Arteriovenous Dialysis Fistula
Authors: Diego Gómez-Arbeláez, Ania García-Gutiérrez, José Antonio González-Fajardo
Journal: Methodist Debakey Cardiovasc J (2021)
Keywords: arteriovenous fistula, exophthalmos, proptosis, upper extremity deep venous thrombosis
MeSH terms: Exophthalmos / diagnostic imaging, Exophthalmos / etiology, Upper Extremity Deep Vein Thrombosis, Venous Thrombosis / diagnostic imaging, Venous Thrombosis / etiology, Venous Thrombosis / therapy, Case Reports, Humans, Renal Dialysis, Upper Extremity

Arterialization of orbital veins is most often due to dural arteriovenous malformations of the cavernous sinus area. We report an unusual case of unilateral proptosis (exophthalmos) caused by arterialized retrograde venous flow in the external jugular vein and cavernous sinus in a patient with an upper extremity hemodialysis fistula and ipsilateral acute central venous thrombosis. The patient's symptoms improved after surgical closure of the hemodialysis fistula.
A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory
Authors: Elin Rebecka Carlsson, Mai-Britt Toft Nielsen, Anne Mette Høgh, Rikke Veggerby Grønlund, Mogens Fenger, Louise Ambye
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene are known to cause familial hypocalciuric hypercalcemia (FHH), usually a benign form of hypercalcemia without symptoms of a disrupted calcium homeostasis. FHH can be mistaken for the more common primary hyperparathyroidism (PHPT), for which surgical treatment may be needed. We describe a case of a 36-year-old woman with hypercalcemia and elevated PTH, initially suspected of having PHPT. Sequencing of the CaSR-gene revealed a mutation in nucleotide 437, changing the amino acid in position 146 from Glycine to Aspartate. The mutation was previously undescribed in the literature, but a very low calcium:creatinine clearance ratio supported the diagnosis FHH. A few years later, the patient's two daughters were tested and the association between mutation and hypercalcemia could be confirmed. The patient was gastric bypass-operated and therefore, due to malabsorption and increased risk of fracture, was in need of adequate calcium supplementation. The chronically elevated calcium levels challenged medical followup, as calcium sufficiency could not be monitored in a traditional manner. Eventually the patient developed elevated alkaline phosphatase, a further increased PTH and a decreased DXA T-score indicating calcium deficiency and bone resorption. As a supplement, all CaSR-mutations found at our hospital, 2005-2018.
Watershed Infarct in Beta-Thalassemia Major Patient
Authors: Behnaz Ansari, Mohammad Saadatnia, Ali Asghar Okhovat
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Method. We present an adult β-thalassemia major patient with manifest asymptomatic chronic left carotid occlusion who suffered watershed infarct. Result. In the presence of asymptomatic chronic left internal carotid occlusion, we assumed that severe anemia (hemoglobin = 3) at admission leads to watershed infarct. Conclusion. Watershed infarct seems to be the cause of stroke in cases of β-thalassemia major with severe anemia. Blood transfusion can be applied in the setting of acute brain ischemia in such high risk patients.
Late thrombosis of sirolimus-eluting stent: a multifactorial problem
Authors: Igor Kranjec, Andreja Cerne
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

We report a case of a young patient in whom a sirolimus-eluting stent was implanted on the culprit left anterior descending coronary artery at primary percutaneous coronary intervention (PCI) for acute myocardial infarction. Nine months later she suffered from a reinfarction due to the late stent thrombosis despite a continuous antiplatelet therapy with aspirin and clopidogrel. A cluster of factors that might have contributed to the development of the stent thrombosis were identified: suboptimal PCI technique, complete stent fracture, and clopidogrel resistance. The obstructed stent was successfully reopened by repeat PCI, while the clopidogrel maintenance dosage was doubled to 150 mg daily for the following year. The further long-term clinical course was uneventful.
Fast Clearance of the SARS-CoV-2 Virus in a Patient Undergoing Vaccine Immunotherapy for Metastatic Chordoma: A Case Report
Authors: Danielle M Pastor, Katherine Lee-Wisdom, Andrew E Arai, Arlene Sirajuddin, Douglas R Rosing, Borys Korchin, James L Gulley, Marijo Bilusic
Journal: Front Oncol (2020)
Keywords: chordoma, coronavirus disease 2019, immunotherapy, modified vaccinia ankara-brachyury vaccine, severe acute respiratory syndrome coronavirus 2
MeSH terms: Case Reports

The emergence of the SARS-CoV-2 virus has been associated with perplexing clinical sequelae and phenomena that often have no clear link to the underlying infection. There is a wide spectrum of symptoms associated with infection, from minimal respiratory complaints to severe multi-organ failure, often resulting in death. Individuals with malignancies, particularly those whose treatments have left them immunocompromised or immunosuppressed, are among the patient populations thought to be at greater risk for more severe illness. A man with aggressive metastatic chordoma contracted the SARS-CoV-2 virus and was diagnosed with COVID-19 while undergoing intravenous brachyury vaccine immunotherapy. His disease course was remarkably mild, and the virus cleared rapidly. Despite a treatment delay of 3 months due to the COVID-19 pandemic, the patient's disease has been stable and tumor-related pain has significantly improved. This suggests not only an intact, functional immune system, but also one that appears to have been responsive to cancer treatment. It has been suggested that individuals undergoing treatment for metastatic cancer are at greater risk of severe SARS-CoV-2-related illnesses and complications. While immunosuppression may be a problem, particularly in those receiving conventional chemotherapeutic agents, it is possible that the non-specific effects of immune-enhancing therapies may confer some protection against SARS-CoV-2.
Diagnostic and therapeutic challenges in non-specific orbital inflammation - a case report
Authors: Mioara-Laura Macovei, Adelina-Maria Neacșu
Journal: Rom J Ophthalmol (2023)
Keywords: exophthalmia, exposure keratopathy, hypopyon, idiopathic orbital inflammation
MeSH terms: Exophthalmos / diagnosis, Exophthalmos / etiology, Inflammation, Case Reports, Aged, 80 and over, Female, Humans

Objective: The aim of this report is to present the diagnostic and therapeutic approach in a case of non-specific orbital inflammation complicated with sight-threatening exposure keratopathy. Case presentation: An 81-year-old female patient presented to our Ophthalmology Department for left, painful, unilateral exophthalmia and decreased vision in the same eye. The clinical examination revealed left proptosis, inferior dystopia, upper lid edema, erythema and moderate retraction, ocular motility restriction, chemosis and corneal epithelial defect. The keratopathy complicated in evolution with hypopyon. The patient received treatment for the exposure keratopathy and, after every specific cause of unilateral exophthalmia was ruled out using imagistic and laboratory examinations, systemic corticosteroid treatment was initiated. Although the response to treatment was prompt, it was incomplete because of the long-standing evolution. Discussions: In this case, the diagnosis was difficult because a malignant breast tumor was encountered and an orbital biopsy was impossible to be performed. The presence of exposure keratopathy complicated with hypopyon imposed the exclusion of an infectious process and delayed the initiation of the corticosteroid therapy. Conclusions: The diagnosis and treatment of this disease represent a challenge given the need to rule out all the local and systemic conditions that may present with exophthalmia.
Aplasia cutis congenita scalp presenting with life threatening hemorrhage: a case report
Authors: Farrukh Mahmood, Shahzadi Tasneem, Malik Muhammad Nadeem
Journal: J Neonatal Surg (2012)
Keywords: aplasia cutis congenita, hemorrhage, superior sagittal sinus
MeSH terms: Case Reports

Aplasia cutis congenita is a rare congenital anomaly characterized by the absence of a patch of skin since birth. It may lead to life threatening complications at times. A 5-day-old neonate with Aplasia cutis congenita was received in a state of shock due to tremendous blood loss from the superior sagittal sinus. The neonate was resuscitated immediately followed by closure of the superior sagittal sinus and flap coverage to the defect as a life saving procedure.
Recurrent impetigo herpetiformis: case report
Authors: Emmanuel Wekesa Wamalwa
Journal: Pan Afr Med J (2017)
Keywords: recurrent, impetigo herpetiformis, postpartum
MeSH terms: Dermatitis Herpetiformis / pathology, Impetigo / pathology, Pregnancy Complications, Infectious / pathology, Pregnancy Outcome, Case Reports, Female, Humans, Pregnancy, Recurrence, Young Adult

Impetigo herpetiformis (pustular psoriasis of pregnancy) is a rare dermatosis of pregnancy that typically starts in the 2nd half of pregnancy and resolves postpartum. It may recur in subsequent pregnancies. I present a case of 23 year old female gravida 4 para 3 with recurrent impetigo herpetiformis at 26 weeks gestation. She presented with a one month history of pustular lesions which responded to treatment with prednisone. She delivered at term with a favourable outcome. The disease resolved one month postpartum. This was the second recurrence of the disease. She had her first episode of impetigo herpetiformis during the second pregnancy. The disease recurred in the 3rd pregnancy and resulted in a still birth.
Late Incidental Discovery of Compression of the Left Anterior Descending Coronary Artery by an Endocardial Defibrillator Lead
Authors: Alex Scripcariu, Denis Gaty, Philippe Maury
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Coronary artery compression/damage by cardiac pacing/defibrillation leads is very rare and often an unknown complication of pacemaker implantation. Here, we present the case of a 71-year-old woman with late discovery of an asymptomatic compression of the left anterior descending (LAD) coronary artery by a defibrillation lead implanted ten years before. This dissuaded us in removing this now malfunctioning lead with high threshold, and an additional right ventricular (RV) lead was implanted along with atrial and left ventricular (LV) leads for allowing resynchronization therapy. Based on the published data, a majority of RV leads are currently implanted in the "anteroseptal area," which is neighboring the course of the LAD.
Case report: MRI findings with CNS blastomycosis in three domestic cats
Authors: Silke Hecht, Jennifer R Michaels, Heather Simon
Journal: Front Vet Sci (2022)
Keywords: blastomyces dermatitidis, brain, central nervous system, encephalitis, feline, fungal, magnetic resonance imaging
MeSH terms: Case Reports

Blastomycosis is a systemic mycotic infection caused by dimorphic fungi. The disease is rare in cats, and reports on imaging findings with central nervous system (CNS) involvement are limited. Magnetic resonance imaging (MRI) was performed antemortem in three feline patients. Imaging findings that may allow prioritization of intracranial blastomycosis over other differential diagnoses included focal or multifocal intra-axial mass lesions with dural contact, lesion hypointensity on T2-weighted images and diffusion-weighted imaging/apparent diffusion coefficient map (DWI/ADC), strong and homogeneous contrast enhancement of the lesion(s), concurrent meningeal enhancement, marked perilesional edema and mass-effect, and ocular abnormalities. One cat was managed successfully and had a recurrence of CNS blastomycosis more than 4.5 years after the initial diagnosis. Repeat MRI at that point revealed both new and persistent (chronic) abnormalities.
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon
Authors: Sylvia Schucht, Rebecca Minso, Christiane Lex, Jochen Reiss, Frauke Stanke, Stephanie Tamm, Andrea van Barneveld, Burkhard Tümmler
Journal: Mol Genet Genomic Med (2019)
Keywords: cftr bioassay, cftr immunoblot, complex allele, cystic fibrosis, intestinal current measurement
MeSH terms: Action Potentials, Colon / metabolism, Cystic Fibrosis Transmembrane Conductance Regulator / metabolism, Phenotype, Case Reports, Research Support, Non-U.S. Gov't, Cell Line, Cells, Cultured, Child, Chlorides / metabolism, Colon / cytology, Colon / physiology, Cystic Fibrosis Transmembrane Conductance Regulator / genetics, Humans, Intestinal Mucosa / metabolism, Intestinal Mucosa / physiology, Ion Transport, Male, Mutation, Missense, Chlorides, cystic fibrosis transmembrane conductance regulator delta F508, Cystic Fibrosis Transmembrane Conductance Regulator

Background:
The impact of complex alleles on CFTR processing and function has yet not been investigated in native human tissue.
Methods:
Intestinal current measurements (ICM) followed by CFTR immunoblot were performed on rectal biopsies taken from two siblings who are compound heterozygous for the CFTR mutations p.Phe508del and the complex allele p.[Arg74Trp;Val201Met;Asp1270Asn].
Results:
Normal and subnormal chloride secretory responses in the ICM were associated with normal and fourfold reduced amounts of the mature glycoform band C CFTR, respectively, consistent with the unequal clinical phenotype of the siblings.
Conclusion:
The combined use of bioassay and protein analysis is particularly meaningful to resolve the CFTR phenotype of "indeterminate" borderline CFTR genotypes on a case-to-case basis.
Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature
Authors: Saoraya Lueangarun, Chirayu U Auewarakul
Journal: J Med Case Rep (2012)

Introduction:
Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms. Only one case of Burkitt's lymphoma presenting with toothache, paresthesia, and Horner's syndrome has been described and no case reports of diffuse large B-cell lymphoma as the etiology of Horner's syndrome currently exist in the literature. In addition, lymphoid neoplasms have rarely been reported to occur in patients with neurofibromatosis type 1 despite an increased risk of many types of cancer in such cases.
Case presentation:
A 28-year-old Thai man presented with a progressively enlarged left supraclavicular mass together with a significant weight loss and night sweating for four months. He also noticed hoarseness and ptosis of his left eye associated with double vision for two months. Physical examination revealed large supraclavicular lymphadenopathy and Horner's syndrome (ptosis, miosis, and anhydrosis) on the left side of his face. A large mediastinal mass was clearly detected by chest X-ray and computed tomography and subsequent lymph node biopsy provided a diagnosis of diffuse large B-cell lymphoma. Interestingly, the patient was also definitely diagnosed with neurofibromatosis type 1 from multiple café au lait macules, axillary freckles, three neurofibromas, multiple Lisch nodules, and a history of affected family members. He subsequently received chemotherapy with a good response. Twenty-seven cases of various types of lymphoid neoplasms previously reported to occur in neurofibromatosis type 1 patients were also extracted from the literature. All cases were non-Hodgkin lymphoma and the major subtype was T-cell. Only nine cases were B-cell lymphoma. The majority of cases were young with a median age at lymphoma diagnosis of 9.4 years (range 1.1 to 77 years). Two-thirds of the cases were boys or men. Other concomitant malignancies were brain tumor, colorectal cancer, pheochromocytoma, and acute lymphoblastic leukemia.
Conclusions:
We describe for the first time a case of diffuse large B-cell lymphoma that occurred in a neurofibromatosis type 1 patient with Horner's syndrome. Horner's syndrome can be an initial manifestation of diffuse large B-cell lymphoma. Patients who present with a classical triad of Horner's syndrome should always be fully investigated for lymphomatous involvement, especially in the thorax. The exact molecular mechanism for diffuse large B-cell lymphoma development in neurofibromatosis type 1 cases remains to be elucidated.
Retained Foreign Body in a Diabetic Patient's Hand
Authors: Frank Liaw, Odhrán Murray, Yan Yu Tan, Timothy Hems
Journal: Open Orthop J (2018)
Keywords: case report, diabetes mellitus, diabetic neuropathy, foreign body retention, osteomyelitis
MeSH terms: Case Reports

Background:
Diabetic peripheral neuropathy puts patients at increased risk of acute injury by foreign bodies and also contributes to delayed presentation and diagnosis.
Case report:
We describe a 57-year-old patient with poorly controlled type 1 diabetes who presented with a three-week history of worsening swelling and erythema in the metacarpophalangeal joint of his left thumb. He denied any previous trauma or injury and was initially treated with intravenous antibiotics. Subsequent imaging revealed septic arthritis and osteomyelitis secondary to a retained foreign body, which was surgically removed in theatre.
Conclusion:
This is the first reported case of a retained foreign body in the hand of a diabetic patient, and demonstrates the importance of early radiological imaging of peripheral limb injuries in high-risk patients.
Percutaneous discectomy-continuous irrigation and drainage for tuberculous lumbar spondylitis: a report of two cases
Authors: Sei Shibuya, Satoshi Komatsubara, Tetsuji Yamamoto, Nobuo Arima, Yoshiaki Kanda, Shiro Oka
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Percutaneous curettage and continuous irrigation were performed for definitive diagnosis and treatment of tuberculous (TB) lumbar spondylitis. Under local anaesthesia, affected lumbar discs were curetted using a procedure of percutaneous nucleotomy, and in-tube and the out-tube were placed for continuous irrigation. The period of continuous irrigation was 12-16 days. Mycobacterium tuberculosis was demonstrated in case 1 by culture and PCR, whereas histology showed tuberculous lesion with caseous necrosis in both cases. Postoperative MRI showed markedly reduced abscesses after 3 months in both cases. The signal intensity in vertebral bodies was improved. In Case 2, CT observations showed remodeling over time in the vertebral body cavities. This method is advantageous in that although minimally invasive, it achieves identification of pathogenic bacteria and treatment simultaneously. This surgical procedure is expected to prove effective for both TB and pyogenic spondylitis.
Resembling Left Ventricular False Tendon in a Father and His Daughter
Authors: Abdullah Kaplan, Hacı Murat Gunes
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Left ventricular false tendons (LVFTs) are linear fibrous or fibromuscular bands stretching across left ventricular cavity. Although LVFTs have been associated with various heart pathologies and investigated embryologically and histologically, there is only one report in the literature connoting possible hereditary transmission of this entity. We reported a father and his daughter having similar types of LVFTs with regard to location and thickness. With this report, we will contribute in the literature in respect to potential genetic inherence of LVFTs.
Case Report: An exceptional response to neoadjuvant radiotherapy and chemotherapy in undifferentiated pleomorphic sarcoma following checkpoint inhibitor use
Authors: Won Jin Jeon, Jin Hyun Moon, Bryan Pham, Bowon Joung, Laura Denham, Joel Brothers
Journal: Front Oncol (2023)
Keywords: immune-checkpoint inhibitor (ici), neoadjuvant therapy, perioperative therapy, tumor microenvironment, undifferentiated pleomorphic sarcoma (ups)
MeSH terms: Case Reports

Undifferentiated pleomorphic sarcoma (UPS), a subtype of soft tissue sarcoma (STS), is an uncommon malignancy associated with a poor prognosis. As with other forms of sarcoma, surgical resection remains the only form of treatment with curative potential. The role of perioperative systemic therapy has not been definitively elucidated. Due to high recurrence rates and metastatic potential, management of UPS can pose a difficult task for clinicians. In cases of unresectable UPS due to anatomic limitations and in patients with comorbidities and poor performance status (PS), management options are limited. We describe a patient with UPS involving the chest wall with poor PS who achieved complete response (CR) following neoadjuvant chemotherapy and radiation in the setting of prior immune-checkpoint inhibitor (ICI) therapy.
Patient With a 42-Year History of Coccidioidal Meningitis
Authors: Carlos D'Assumpcao, Arash Heidari, Royce H Johnson
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: coccidioidal meningitis, disseminated coccidioidomycosis, extrapulmonary coccidioidomycosis
MeSH terms: Amphotericin B / administration & dosage, Antifungal Agents / administration & dosage, Coccidioidomycosis / drug therapy, Deoxycholic Acid / administration & dosage, Meningitis, Fungal / drug therapy, Case Reports, Drug Combinations, Fluconazole / administration & dosage, Humans, Hydrocephalus / etiology, Hydrocephalus / surgery, Injections, Spinal / methods, Male, Middle Aged, Ventriculoperitoneal Shunt, Antifungal Agents, Drug Combinations, Deoxycholic Acid, Amphotericin B, amphotericin B, deoxycholate drug combination, Fluconazole

This is a case of a 56-year-old man diagnosed with coccidioidal meningitis 42 years ago at the age of 14. He was treated with intrathecal amphotericin B deoxycholate by cisternal puncture for 15 years before switching to fluconazole once it became available in 1991. Over 42 years of treatment, he developed hearing loss due to auditory nerve neurotoxicity, hydrocephalus requiring ventriculoperitoneal shunting with associated malfunctions, lumbar arachnoiditis, and hypokalemic paralysis. Regular cerebrospinal fluid studies to this day do not show disease clearance. Many of the lessons from his clinical history are enshrined in the current iteration of the Infectious Diseases Society of America Coccidioidomycosis Treatment Guidelines. To our knowledge, he is the longest surviving coccidioidal meningitis patient.