Costello syndrome is a rare genetic disorder characterized by mental and growth retardation and distinctive coarse facies. A significant proportion of patients with Costello syndrome have hypertrophic cardiomyopathy, papillomata, and malignant tumors. General anesthesia practice, especially airway and cardiac management, in patients with Costello syndrome may be complicated by anatomical features and cardiac abnormalities. There have been several reports on the anesthetic management of children with Costello syndrome, but few have reported on the anesthetic management of adults with Costello syndrome. In adults, careful preoperative evaluation as well as preparation for adult-onset and previously unrecognized medical conditions are key for safe anesthetic management.
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http://dx.doi.org/10.1213/XAA.0000000000000983 | DOI Listing |
J Neuroophthalmol
December 2024
Division of Ophthalmology (EB-S, AS, AA-A, AS-B, DW, SS, FC), Department of Surgery, University of Calgary, Calgary, Canada; Department of Biomedical Engineering (CN), University of Calgary, Calgary, Canada; Departments of Neurology (LBDL) and Ophthalmology (LBDL), University of Michigan, Ann Arbor, Michigan; and Department of Clinical Neurosciences (SS, FC), University of Calgary, Calgary, Canada.
Background: Optic neuritis (ON) is a complex clinical syndrome that has diverse etiologies and treatments based on its subtypes. Notably, ON associated with multiple sclerosis (MS ON) has a good prognosis for recovery irrespective of treatment, whereas ON associated with other conditions including neuromyelitis optica spectrum disorders or myelin oligodendrocyte glycoprotein antibody-associated disease is often associated with less favorable outcomes. Delay in treatment of these non-MS ON subtypes can lead to irreversible vision loss.
View Article and Find Full Text PDFPurpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- RAS/mitogen-activated protein kinase genes (RASopathies).
Patients And Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio (n=30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert.
Patients with relapsed or refractory (R/R) diffuse large B-cell lymphoma (DLBCL) have poor outcomes. Gemcitabine + oxaliplatin (GemOx) with rituximab, a standard salvage therapy, yields complete response (CR) rates of approximately 30% and median overall survival (OS) of 10-13 months. Patients with refractory disease fare worse, with a CR rate of 7% for subsequent therapies and median OS of 6 months.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
December 2024
Department of Pediatric Cardiac Surgery, Cleveland Clinic, Cleveland, Ohio.
Scimitar syndrome is a rare condition described by unique anatomic features that consist mainly of an abnormal connection of the right pulmonary veins to the inferior vena cava and right atrial junction, as well as an anomalous systemic arterial supply to the right lung. We present the case of a 60-year-old man with an atypical variant of scimitar syndrome that was embryologically perplexing and anatomically challenging to correct. We highlight key surgical and procedural considerations for a patient with scimitar syndrome presenting with this complex surgical anatomy.
View Article and Find Full Text PDFCardiol Young
January 2025
Department of Pediatrics, Division of Cardiology, Loma Linda Children's Hospital, Loma Linda, CA, USA.
We describe a case of novel use of trametinib in treating arrythmia without concomitant cardiomyopathy. Our patient is a two-year-old female born with Costello syndrome due to heterozygous mutations in the HRAS gene c34 G > T p (G12C). Shortly after birth, she was diagnosed with multifocal atrial tachyarrhythmia.
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