OpenMed/multicare-articles huggingface dataset:
A Cardiac Pseudoaneurysm as a Thromboembolic Source: Acute Visual Loss due to Cardiac Emboli
Authors: Fernando Montenegro Sá, Sara I L Fernandes, Rita J R Carvalho, Luís M G Santos, José A S Antunes, Joana M Guardado, João C A Morais
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Acute visual loss is rarely caused by a heart condition. This manuscript transcribes a case report of a 36-year-old patient with a 2-year history of aortic valve replacement due to bicuspid aortic valve endocarditis that presents to the emergency department with an acute right eye visual loss. After ophthalmologic investigation identified a central retinal artery occlusion, a transthoracic echocardiography was performed to search for a possible cardiac embolus, despite the patient presenting INR values of 2-2.5 for the last year. A mitral-aortic intervalvular fibrosa pseudoaneurysm was identified. A transoesophageal echocardiography was then performed, identifying a small clot logged inside the pseudoaneurysm that protruded to the left ventricle outflow tract. After INR-adjusted warfarin treatment to levels between 3 and 4, the pseudoaneurysm was surgically closed. This is a rare case since the likely source of embolism to the central retinal artery was the thrombus logged inside the pseudoaneurysm despite a standardly accepted therapeutic INR.
Spinal Stroke following Kidney Transplant
Authors: Jayanthan B Subramanian, Farjad Siddiqui, Pranit N Chotai, Yazan Al-Adwan, Amer Rajab, Kenneth Washburn, Austin D Schenk, Ashley J Limkemann, Michael Luttrull, Musab Al-Ebrahim, Ginny Bumgardner, Navdeep Singh
Journal: Case Rep Transplant (2022)
MeSH terms: Case Reports

Complications are a part of surgery. Spinal infarctions are a dreaded complication of aortic surgery. We present a patient who developed a spinal infarct after a kidney transplant. We were unable to find a causative factor in our search for etiology. In our review of the literature, we were unable to find a similar report. We present this case report to highlight a rare complication of kidney transplantation and to reinforce that patients requiring kidney transplant are complex patients with multiple comorbidities that can cause a multitude of complications in the periop period.
Primary small cell carcinoma of the larynx: report of a rare tumor
Authors: Harmeet Singh, Ashok Chauhan
Journal: Case Rep Oncol Med (2011)
MeSH terms: Case Reports

Primary small cell carcinoma of larynx is a rare tumor representing less than 0.5% of all laryngeal cancers. This is one of the most lethal of all malignancies associated with frequent early widespread metastases and dismal prognosis. We report a case of a 60-year-old patient with small cell carcinoma of the subglottic larynx, who presented with hepatic metastasis.
Patient-specific detection of cerebral blood flow alterations as assessed by arterial spin labeling in drug-resistant epileptic patients
Authors: Ilaria Boscolo Galazzo, Silvia Francesca Storti, Alessandra Del Felice, Francesca Benedetta Pizzini, Chiara Arcaro, Emanuela Formaggio, Roberto Mai, Michael Chappell, Alberto Beltramello, Paolo Manganotti
Journal: PLoS One (2015)
MeSH terms: Cerebrovascular Circulation, Drug Resistant Epilepsy / physiopathology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Drug Resistant Epilepsy / diagnosis, Electroencephalography, Female, Humans, Male, Middle Aged, Spin Labels, Video Recording, Spin Labels

Electrophysiological and hemodynamic data can be integrated to accurately and precisely identify the generators of abnormal electrical activity in drug-resistant focal epilepsy. Arterial Spin Labeling (ASL), a magnetic resonance imaging (MRI) technique for quantitative noninvasive measurement of cerebral blood flow (CBF), can provide a direct measure of variations in cerebral perfusion associated with the epileptic focus. In this study, we aimed to confirm the ASL diagnostic value in the identification of the epileptogenic zone, as compared to electrical source imaging (ESI) results, and to apply a template-based approach to depict statistically significant CBF alterations. Standard video-electroencephalography (EEG), high-density EEG, and ASL were performed to identify clinical seizure semiology and noninvasively localize the epileptic focus in 12 drug-resistant focal epilepsy patients. The same ASL protocol was applied to a control group of 17 healthy volunteers from which a normal perfusion template was constructed using a mixed-effect approach. CBF maps of each patient were then statistically compared to the reference template to identify perfusion alterations. Significant hypo- and hyperperfused areas were identified in all cases, showing good agreement between ASL and ESI results. Interictal hypoperfusion was observed at the site of the seizure in 10/12 patients and early postictal hyperperfusion in 2/12. The epileptic focus was correctly identified within the surgical resection margins in the 5 patients who underwent lobectomy, all of which had good postsurgical outcomes. The combined use of ESI and ASL can aid in the noninvasive evaluation of drug-resistant epileptic patients.
Unilateral Headache Status after Intra-Aortic Balloon Pump Placement
Authors: Garret M Weber, Alan L Gass, Shalvi B Parikh
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Introduction:
Intra-aortic balloon pump (IABP) counterpulsation is a catheter-based treatment for coronary artery disease and decompensated heart failure to increase coronary blood flow and improve cardiac output. IABP is generally well tolerated, and complications are usually related to peripheral vasculature or red blood cell and platelet consumption. The usual insertion site via femoral artery renders the patient bedbound. Recently, axillary artery has been used in patients with atherosclerotic peripheral vascular disease and documented small arteries or in those awaiting transplant to ensure ambulation and prevent deconditioning.
Case report:
We present a patient with ischemic cardiomyopathy and severe left ventricular dysfunction, awaiting Orthotropic Heart Transplant. His worsening intractable angina and dyspnea necessitated IABP placement via left axillary artery, significantly improving his condition. He subsequently experienced migraine-type persistent unilateral headache refractory to standard pain management. Multiple strategies were utilized to treat his pain, but the patient insisted that his pain commenced after IABP placement. Ultimately, the removal of the pump led to complete resolution with no recurrence.
Conclusion:
The authors hypothesize that the unilaterally directed blood flow and direct increase in cerebral perfusion from the intra-aortic balloon pump may have caused vasodilation of the extracranial arteries, leading to a persistent and debilitating headache in this susceptible patient.
Bilateral Proximal Tibia Stress Fractures through Persistent Physes
Authors: John J Carroll, Sean P Kelly, James N Foster, Derek A Mathis, Joseph F Alderete
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Introduction:
Fatigue fractures are stress fractures resulting from repetitive trauma in areas of stress concentration. Prior case reports and studies have described stress fractures through persistent physes about the olecranon and distal fibula, as evidenced by hyaline cartilage on histologic analysis. However, there have been no documented proximal tibia stress fractures through persistent physes.
Case presentation:
A 29-year-old military male basic trainee with varus alignment about his knees suffered bilateral medial tibial plateau stress fractures several weeks into military basic training. He underwent radiographic and laboratory evaluation of his stress fractures and eventual operative fixation of his bilateral tibial plateau fractures. Intraoperative specimens obtained from the fracture sites distal to the articular surface demonstrated abnormal fibrous appearing tissue. Histology demonstrated the presence of hyaline cartilage.
Discussion:
A 29-year-old military male basic trainee had bilateral proximal tibia stress fractures through persistent physes confirmed with biopsies demonstrating hyaline cartilage. Our belief is that the patient's persistent physes placed him at a greater risk for stress fractures and these may benefit from fixation in soldiers and athletes.
Anesthetic Management of a Patient with DRESS Syndrome for Renal Transplantation
Authors: P G Kadam, R Nama, M P Modi
Journal: Int J Organ Transplant Med (2016)
Keywords: drug eruptions, drug hypersensitivity syndrome, eosinophilia, fever, hypersensitivity, renal transplantation
MeSH terms: Case Reports

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare but potentially life-threatening hypersensitivity reaction characterized by widespread erythematous skin eruptions with fever, lymphadenopathy and visceral involvement-hepatitis, nephritis, pericarditis, and pneumonitis. There are numerous reports describing the management of such patients in intensive care units but hardly any describing the intraoperative anesthetic management of such patients. Herein, we report on a patient with DRESS syndrome who was scheduled for renal transplantation. The main goal in this case was to prevent a hypersensitive drug reaction intraoperatively and develop a safe alternative anesthesia plan for the patient. After pre-operative skin and intradermal tests, we chose the drugs that could be safely used for anesthesia. Usually general anesthesia is preferred for renal transplantation but in this patient we opted for combined spinal epidural anesthesia. Precautions that are to taken in such a case and the anesthetic management are discussed in detail herewith.
P-ANCA Systemic Vasculitis Induced by Brucellosis in an Elderly Male Patient
Authors: Mohammed Cheikh, Abdulrahman Kabli, Esraa Sendi, Hani Almoallim
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

One of the most prevalent causes of vasculitis is bacterial infection. An infection that causes anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is uncommon and not reported frequently. We report a case of a 74-year-old male who presented with fever for ten days and was found to have brucellosis. Then, he was diagnosed with Guillain-Barré syndrome (GBS) and started on immunoglobulin (IVIG) for one week without a response. His fever was still persistent despite appropriate antibiotic therapy. Rheumatology evaluation revealed a history of multiple joint pain and swelling, elevated inflammatory marker, and a high titer of P-ANCA. Steroid therapy was started initially on the background of antibiotics therapy. His fever and other symptoms showed marked improvement after one week. However, P-ANCA titer was still elevated. The decision was made to treat the patient as a case of brucellosis-induced P-ANCA vasculitis. Azathioprine was added, and steroid was maintained for one month and then it was tapered gradually. All symptoms improved from the third month of follow-up except weakness from peripheral neuropathy with normalization of P-ANCA titer. His condition remained stable after six months of follow-up. Clinicians should be aware of the possibility of infection-induced vasculitis, particularly when patients' symptoms persist despite the appropriate use of antibiotics.
A surgical case of aortic stenosis with recurrent gastrointestinal bleeding: Heyde syndrome
Authors: Makoto Iijima, Nagomi Itoh, Ryota Murase, Yutaka Makino
Journal: Int J Surg Case Rep (2018)
Keywords: aortic stenosis, case report, gastrointestinal bleeding, heyde syndrome

Introduction:
The combination of aortic stenosis, acquired coagulopathy, and anemia due to gastrointestinal (GI) bleeding is described as Heyde syndrome.
Presentation of case:
We report a surgical case of a 77-year-old man who was admitted because of melena and exertional chest compression. GI endoscopy could not reveal the origin of the GI bleeding. Conservative therapy including fasting and transfusion improved the anemia. Echocardiography demonstrated severe aortic stenosis (AS) with a hypertrophied left ventricle. Hematologic examination by gel electrophoresis showed deficiency of high-molecular-weight multimers of von Willebrand factor (vWF), resulting in the diagnosis of Heyde syndrome. He electively underwent aortic valve replacement (AVR) with a bioprosthesis using standard cardiopulmonary bypass. In the perioperative period, the patient had no recurrent anemia. He was discharged without subjective symptoms on postoperative day 18. The 20-month follow-up was unremarkable, with no episode of recurrent GI bleeding.
Discussion:
Heyde syndrome is associated with acquired von Willebrand disease type IIA and AS. The true characteristic of von Willebrand disease type IIA is hemorrhagic diathesis caused by deficiency of high-molecular-weight multimers of vWF. Under the influence of high shear stress caused by AS, vWF is stretched and easily cleaved by vWF-cleaving protease. Consequently, it causes deficiency of high-molecular-weight multimers of vWF and primary hemostasis impairment. Therefore, the most effective treatment for Heyde syndrome is correction of AS. AVR can improve not only the hemodynamic status but also coagulopathy.
Conclusion:
The differential diagnosis of patients with recurrent GI bleeding with concurrent systolic murmur should include Heyde syndrome.
An Unexpected Airway Complication in a Male Patient with Goltz Syndrome
Authors: Sadie Smith, Kavita Gadhok, Dmitri Guvakov
Journal: Case Rep Anesthesiol (2016)

Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight challenges with airway management intraoperatively and postoperatively in patients with Goltz syndrome. Our aim is to increase awareness of the potential airway complications associated with this genetic disorder and to provide suggestions for optimal perioperative management for patients afflicted with Goltz syndrome.
A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family
Authors: Marylin Desjardins, Swadhinya Arjunaraja, Jeffrey R Stinson, Batsukh Dorjbal, Janani Sundaresan, Julie Niemela, Mark Raffeld, Helen F Matthews, Angela Wang, Pamela Angelus, Helen C Su, Bruce D Mazer, Andrew L Snow
Journal: Front Immunol (2018)
Keywords: atopy, b cell lymphocytosis, benta, card11, primary immumunodeficiencies
MeSH terms: CARD Signaling Adaptor Proteins / genetics, Gain of Function Mutation, Germ-Line Mutation, Guanylate Cyclase / genetics, Immunologic Deficiency Syndromes / genetics, Lymphoproliferative Disorders / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't, B-Lymphocytes / immunology, B-Lymphocytes / metabolism, Base Sequence, CARD Signaling Adaptor Proteins / metabolism, Family Health, Female, Guanylate Cyclase / metabolism, Humans, Immunologic Deficiency Syndromes / metabolism, Immunologic Deficiency Syndromes / pathology, Infant, Lymphoproliferative Disorders / pathology, Male, NF-kappa B / metabolism, Pedigree, T-Lymphocytes / immunology, T-Lymphocytes / metabolism, CARD Signaling Adaptor Proteins, NF-kappa B, CARD11 protein, human, Guanylate Cyclase

CARD11 is a lymphocyte-specific scaffold molecule required for proper activation of B- and T-cells in response to antigen. Germline gain-of-function (GOF) mutations in the CARD11 gene cause a unique B cell lymphoproliferative disorder known as B cell Expansion with NF-κB and T cell Anergy (BENTA). In contrast, patients carrying loss-of-function (LOF), dominant negative (DN) CARD11 mutations present with severe atopic disease. Interestingly, both GOF and DN CARD11 variants cause primary immunodeficiency, with recurrent bacterial and viral infections, likely resulting from impaired adaptive immune responses. This report describes a unique four-generation family harboring a novel heterozygous germline indel mutation in CARD11 (c.701-713delinsT), leading to one altered amino acid and a deletion of 4 others (p.His234_Lys238delinsLeu). Strikingly, affected members exhibit both moderate B cell lymphocytosis and atopic dermatitis/allergies. Ectopic expression of this CARD11 variant stimulated constitutive NF-κB activity in T cell lines, similar to other BENTA patient mutations. However, unlike other GOF mutants, this variant significantly impeded the ability of wild-type CARD11 to induce NF-κB activation following antigen receptor ligation. Patient lymphocytes display marked intrinsic defects in B cell differentiation and reduced T cell responsiveness in vitro. Collectively, these data imply that a single heterozygous CARD11 mutation can convey both GOF and DN signaling effects, manifesting in a blended BENTA phenotype with atopic features. Our findings further emphasize the importance of balanced CARD11 signaling for normal immune responses.
Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1
Authors: Xuan Wu, Nan Dong, Zhensheng Liu, Tieyu Tang, Meirong Liu
Journal: Front Neurol (2022)
Keywords: aptx, ataxia with oculomotor apraxia type 1, case report, novel mutation, oculomotor apraxia
MeSH terms: Case Reports

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two most common and typical manifestations. Axonal sensorimotor peripheral neuropathy, dystonia, chorea, and cognitive impairment are common associated symptoms, as are hypoalbuminemia and hypercholesterolemia. Oculomotor apraxia (OMA)has been reported to be a feature often, although not exclusively, associated with AOA1. The Aprataxin gene, APTX, is ubiquitously expressed, and numerous APTX mutations are associated with different clinical phenotypes have been found. In the present study, we enrolled a 14-year-old boy who developed ataxia with staggering gait from the age of 4 years. Early-onset cerebellar ataxia, peripheral axonal neuropathy, cognitive impairment and hypoalbuminemia, hypercholesterolemia were presented in this patient, except for OMA. We applied ataxia-related genes filtering strategies and whole-exome sequencing (WES) to discover the genetic factors in a Chinese family. Sanger sequencing was used in the co segregation analysis in the family members. A compound heterozygous mutation in APTX gene (c.739C>T and c.501dupG) was identified. This is the first description of a genetically confirmed patient of AOA1 in a Chinese family in addition to a novel mutation of c.501dupG in APTX.
Cervical Epidural Spinal Analgesia for Acute Management of Severe Unilateral Forelimb Lameness: Case Report
Authors: Amanda R Watkins, Klaus Hopster, David Levine, Samuel D Hurcombe
Journal: Front Vet Sci (2021)
Keywords: analgesia, epidural, equine, morphine, opioid, supporting limb laminitis
MeSH terms: Case Reports

A 20-year-old Quarter Horse gelding was presented with severe right forelimb lameness (5/5 AAEP Lameness Scale) due to a tear of the superficial digital flexor muscle which was diagnosed via palpation of swelling and ultrasonography revealing major muscle fiber disruption and hematoma formation. When traditional systemic therapy (non-Steroidal anti-inflammatories) did not restore clinically acceptable comfort and the risk of supporting limb laminitis became a reasonable concern, a cervical epidural catheter was placed between the first and second cervical vertebrae in the standing, sedated patient using ultrasound guidance. The gelding was treated with epidural morphine (0.1 mg/kg every 24 h then decreased to 0.05 mg/kg every 12 h) and was pain-scored serially following treatment. Spinal analgesia was provided for 3 days. Pain scores significantly decreased following each treatment with morphine, and the gelding was successfully managed through the acutely painful period without any adverse effects associated with the C1-C2 epidural catheter placement technique, the epidural morphine, or contralateral limb laminitis. At the 2-month follow-up, the gelding was walking sound with no complications seen at the catheter insertion site. In this case, spinal analgesia using epidural morphine administered via a cervical epidural catheter was an effective and technically achievable option for pain management associated with severe forelimb muscle injury in a horse.
Reduction of cytochrome C oxidase during vasovagal hypoxia-ischemia in human adult brain: a case study
Authors: Arnab Ghosh, Christina Kolyva, Ilias Tachtsidis, David Highton, Clare E Elwell, Martin Smith
Journal: Adv Exp Med Biol (2013)
MeSH terms: Brain / blood supply, Electron Transport Complex IV / metabolism, Hypoxia / enzymology, Ischemia / physiopathology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Bradycardia / metabolism, Brain / enzymology, Brain / metabolism, Cerebrovascular Circulation / physiology, Humans, Ischemia / metabolism, Male, Oxygen / metabolism, Peptides / metabolism, Spectroscopy, Near-Infrared / methods, Peptides, hypotensin (snake), Electron Transport Complex IV, Oxygen

Near-infrared spectroscopy (NIRS)-derived measurement of oxidized cytochrome c oxidase concentration ([oxCCO]) has been used as an assessment of the adequacy of cerebral oxygen delivery. We report a case in which a reduction in conscious level was associated with a reduction in [oxCCO]. Hypoxaemia was induced in a 31-year-old, healthy male subject as part of an ongoing clinical study. Midway through the hypoxaemic challenge, the subject experienced an unexpected vasovagal event with bradycardia, hypotension and reduced cerebral blood flow (middle cerebral artery blood flow velocity decrease from 70 to 30 cm s(-1)) that induced a brief reduction in conscious level. An associated decrease in [oxCCO] was observed at 35 mm (-1.6 μM) but only minimal change (-0.1 μM) at 20-mm source-detector separation. A change in optical scattering was observed, but path length remained unchanged. This unexpected physiological event provides an unusual example of a severe reduction in cerebral oxygen delivery and is the first report correlating change in clinical status with changes in [oxCCO].