Alpha-methyl acyl-CoA racemase deficiency (AMACRD) is a rare peroxisomal disorder that results in the accumulation of pristanic acid and 16 cases have been reported in the literature. Here, we present three additional patients, two confirmed by genomic study and one suspected. Three siblings who were born to healthy unrelated parents developed recurrent episodes of encephalopathy, seizures, and behavioral disturbances.
View Article and Find Full Text PDFBackground Individual blood cell count abnormalities have been associated with cardiovascular disease and increased mortality. In this study, we defined a "cytopenia phenotype," reflecting bone marrow hypoproliferation, to determine if peripheral blood cytopenia is associated with increased cardiovascular disease and mortality risk. Methods and Results Study participants were derived from a biracial observational cohort study, REGARDS (Reasons for Geographic and Racial Differences in Stroke), that enrolled 30 239 Black and White participants aged ≥45 years between 2003 and 2007.
View Article and Find Full Text PDFPurpose: Cyberattacks targeting health care organizations are becoming more frequent and affect all aspects of care delivery. Cancer care is particularly susceptible to major disruptions because of the potential of immediate and long-term consequences for patients who often rely on timely diagnostic testing and regular administration of systemic therapy in addition to other local treatment modalities to cure or control their diseases. On October 28, 2020, a cyberattack was launched on the University of Vermont Health Network with wide-ranging consequences for oncology, including loss of access to all network intranet servers, e-mail communications, and the electronic medical record (EMR).
View Article and Find Full Text PDFQuality of life and self-efficacy assessments are increasingly applied in research with type 2 diabetes mellitus patients due to the impact of the disease on their lives. This study aimed to describe the quality of life and self-efficacy in type 2 diabetes mellitus patients and describe the association of quality of life and self-efficacy with demographic, metabolic, and clinical variables. This is a secondary data analysis from a cross-sectional study: Metabolic control in patients with type 2 diabetes mellitus in a public hospital in Peru: a cross-sectional study in a low-middle income country.
View Article and Find Full Text PDFThrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening microangiopathic hemolytic anemia characterized by thrombocytopenia, hemolytic anemia, and ischemic organ damage. It is mainly caused by an autoreactive antibody directed at ADAMTS13. Immunotherapy is frequently associated with autoimmune complications in patients with cancer, but only three cases of TTP have been reported, none implicating single treatment with the anti-programmed cell death receptor 1 ligand antibody nivolumab.
View Article and Find Full Text PDFPalliative radiotherapy is currently the medical standard of care for non-small-cell lung cancer (NSCLC) patients with symptomatic CNS and leptomeningeal disease. We report the case of a 62-year-old male patient with EGFR (19+) NSLC with symptomatic lymph node, bone, CNS, and leptomeningeal metastases. Taking into account on one hand the response to tyrosine kinase inhibitors (TKIs) and on the other hand the short- to medium-term side effects of radiotherapy and the lack of timely availability in our healthcare system, the patient was treated with afatinib (40 mg daily) and exhibited a rapid response with improvement of neurological symptoms.
View Article and Find Full Text PDFPatients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
July 2018
A 28-year-old man presented to the emergency room complaining of right proptosis. He also manifested eye pain and facial fullness and redness in this side. Seven years ago, he had right hemifacial gunshot trauma treated with surgical reconstruction.
View Article and Find Full Text PDFEx vivo CD34 selection before allogeneic hematopoietic stem cell transplantation (allo-HCT) reduces graft-versus-host disease without increasing relapse but usually requires myeloablative conditioning. We aimed to identify toxicity patterns in older patients and the association with overall survival (OS) and nonrelapse mortality (NRM). We conducted a retrospective analysis of 200 patients who underwent CD34 selection allo-HCT using the ClinicMACS® system between 2006 and 2012.
View Article and Find Full Text PDFThe late adverse events in long-term survivors after myeloablative-conditioned allogeneic hematopoietic cell transplantation (HCT) with ex vivo CD34 cell selection are not well characterized. Using the National Cancer Institute's Common Terminology Criteria for Adverse Events, version 4.0, we assessed all grade ≥3 toxicities from the start of conditioning to the date of death, relapse, or last contact in 131 patients who survived >1 year post-HCT, identifying 285 individual toxicities among 17 organ-based toxicity groups.
View Article and Find Full Text PDFBrain lesions and malformations have been described on ultrasonography of prenatal Zika infection; however, there are scarce reports about fetal magnetic resonance (MR) findings. We report 3 cases of fetuses with confirmed intrauterine Zika virus infection evaluated by ultrasound and fetal MR. Various morphometric measurements were assessed and brain maturation was calculated with the fetal total maturation score.
View Article and Find Full Text PDFTo report MRI findings which reflect a pathological inflammatory condition of the uveal tract. This study includes single-center retrospective case series of five patients with clinical diagnosis of uveitis. There were 1 male (20 %) and 4 female patients (80 %).
View Article and Find Full Text PDFPatients with mutations in the polymerase gamma gene (POLG) may present with progressive ataxia and in such situations neuroimaging findings may suggest the diagnosis. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
View Article and Find Full Text PDFMyelomatous involvement of pleural effusions developing in patients with multiple myeloma is extremely rare and only a few cases have been reported so far. It is thought to represent an aggressive clinical progression of disease and is usually associated with severe complications, poor prognosis and high mortality. Ferritin is a marker of inflammatory pathways that plays a significant role in plasma cell malignancies and has been studied as a prognostic factor for multiple myeloma.
View Article and Find Full Text PDFObjective: To report a single-center experience in the endovascular management of cerebral aneurysms in children with stenting and flow-diversion techniques.
Methods: During a 7-year period, 5 male patients with six intracranial aneurysms (IA) were treated by endovascular therapy with stenting or flow-diversion. The average age was 11 years (range 6-18 years).
Background: Neoplasms of histiocytic and dendritic cell origin, including follicular dendritic cell sarcoma (FDCS), histiocytic sarcoma (HS) and interdigitating dendritic cell sarcoma (IDCS), are extremely rare, and data on their natural history and treatment outcomes are sparse. We evaluated the impact of surgery, radiation and systemic therapies on overall survival (OS).
Methods: We conducted a retrospective chart review of patients with FDCS, IDCS and HS treated at Memorial Sloan Kettering Cancer Center between 1995 and 2014.
Purpose: Our goal is to pictorially review a wide spectrum of congenital and acquired conditions affecting the medial aspect of the temporal lobe.
Conclusion: After completing this article, the reader will have knowledge of the imaging appearance of diverse developmental, malformative, and acquired lesions of the mesial temporal lobe, which will be useful when evaluating pathology in this location.
Cerebroretinal microangiopathy with calcifications and cysts is a rare condition characterized by brain, retinal and bone anomalies, as well as a predisposition to gastrointestinal bleeding. There are few reported cases of this condition in adults, among whom the incidence is low. Neuroimaging findings are characteristic, with bilateral calcifications, leukoencephalopathy and intracranial cysts.
View Article and Find Full Text PDFDiffusion tensor imaging and fiber tracking can be methods used for the study of congenital brain malformations associated to white matter bundle abnormalities.Their use is illustrated in a child with semilobar holoprosencephaly in whom diffusion tensor imaging and tractography showed diencephalic ventral induction failure and abnormal white matter fascicles in brain and brainstem.
View Article and Find Full Text PDFBackground: Certain scapula fractures may warrant surgical management to restore shoulder anatomy and promote optimal function. The purpose of this study is to determine the early radiographic follow-up of open reduction internal fixation (ORIF) for displaced, scapular fractures involving the glenoid neck and body.
Methods: Eighty-four patients with a scapula body or neck fracture (with or without articular involvement) underwent ORIF between 2002 and 2010 at a single level I trauma centre.
Introduction: Endovascular therapy is a technique accepted throughout the world for the treatment of ruptured and non-ruptured intracranial aneurysms. In Colombia, however, no summary data have been published that validate the method in terms of occlusion grade and morbimortality.
Objective: The clinical and angiographic outcomes were evaluated for endovascular embolization of 473 intracranial aneurysms treated during a 12 year time interval.
J Vasc Interv Radiol
January 2011
Purpose: To describe the clinical and angiographic results of endovascular therapy for traumatic injuries of the extracranial carotid artery.
Materials And Methods: The clinical and angiographic features of 36 traumatic injuries of the carotid artery during a 12-year period were reviewed. There were 35 male patients (97.
Previous reports suggest a generally successful experience with embolotherapy of vertebral arteriovenous fistulas of the neck. However, potential complications do exist, as shown by this report documenting spinal cord ischemia secondary to compromise of a dominant spinal artery arising from the proximal aspect of the right vertebral artery.
View Article and Find Full Text PDF