Introduction: Myeloid neoplasms (MNs) frequently harbor pathogenic mutations not detected by karyotyping and fluorescence in situ hybridization; hence, next-generation sequencing (NGS) is necessary for diagnosis, risk stratification, and therapy. If, however, NGS is not clinically indicated but still performed, the results may promote futile avenues of investigation, heighten patient distress, and increase cost.
Methods: We created criteria to approve NGS testing for MN (MN-NGS) with the goal of maximizing actionable results.
SARS-CoV-2 acute respiratory distress syndrome (ARDS) induces uncontrolled lung inflammation and coagulopathy with high mortality. Anti-viral drugs and monoclonal antibodies reduce early COVID-19 severity, but treatments for late-stage immuno-thrombotic syndromes and long COVID are limited. Serine protease inhibitors (SERPINS) regulate activated proteases.
View Article and Find Full Text PDFBackground And Aim: Idiopathic myointimal hyperplasia of the mesenteric veins (IMHMV) is an uncommon cause of colonic ischemia for which surgical treatment is typically curative. We describe clinical, radiologic, and endoscopic findings in IMHMV patients to provide clinicians with a framework for pre-surgical identification of this rare disease.
Methods: We performed a systematic review of seven databases for IMHMV cases and identified additional cases from Yale New Haven Hospital records.
Bombay phenotype, an exceptionally rare blood type in individuals outside of Southeast Asia, occurs in approximately 1 in 1,000,000 individuals in Europe. This blood phenotype is characterized by the absence of the H antigen on red blood cells (RBCs) and in secretions. As the H antigen is the structure on which the ABO system is built, individuals lacking this antigen are unable to produce A or B antigens and appear as type O on routine ABO phenotyping.
View Article and Find Full Text PDFRare cases of human herpesvirus 8 (HHV8)-negative effusion-based large B-cell lymphoma (EB-LBCL) occur in body cavities without antecedent or concurrent solid mass formation. In contrast to HHV8 + primary effusion lymphoma (PEL), EB-LBCL has no known association with HIV or HHV8 infection. However, the small sample sizes of case reports and series worldwide, especially from non-Japanese regions, have precluded diagnostic uniformity.
View Article and Find Full Text PDFMicrobes Infect
September 2022
Staphylococcus aureus and Staphylococcus epidermidis are among the most frequent causes of prosthetic joint infections (PJIs). Staphylococcus pettenkoferi, a coagulase-negative Staphylococcal species first described in 2002, has been detected in fewer than 20 patients with true infection (15 cases of bacteremia and 1 case of osteomyelitis). This organism has never been implicated in a PJI, likely owing in part to the difficulty in identification via biochemical methods.
View Article and Find Full Text PDFGlycated hemoglobin (HbA1c) assays are currently utilized to monitor patients with diabetes mellitus type 2 (T2DM). These assays employ various methods, some of which are more prone to interference than others. Commonly recognized causes of interference include hemoglobin variants and conditions that result in reduced red blood cell survival such as hemolytic anemia and certain medications.
View Article and Find Full Text PDFOpen Forum Infect Dis
April 2022
Background: Splenic abscess is a rare infection often resulting from hematogenous spread. Immunocompromised states are commonly comorbid, and the microbiology is heterogeneous.
Methods: We conducted a retrospective review of 33 cases identified by convenience sampling.
Mast cell sarcoma (MCS) is an exceedingly rare form of mastocytosis characterized by invasive malignant mast cell growth and metastatic potential. Diagnosis of MCS is very challenging due to its marked morphologic variations and significant immunophenotypic overlap with other neoplasms. In this study, we undertook an extensive study of 10 cases of MCS from our series, with review of additional 24 cases from the literature, to better clarify the clinicopathologic and molecular features of MCS.
View Article and Find Full Text PDFAcquired hemophilia A, caused by autoantibodies that bind to and neutralize the activity of coagulation factor VIII (FVIII), almost universally presents as a severe bleeding diathesis. Lupus anticoagulants (LAs), autoantibodies directed against phospholipids or protein-phospholipid complexes, manifest clinically with an increased risk of thrombosis. While these autoantibodies are uncommon, the distinctive clinical presentation in conjunction with the typical laboratory findings often enable straightforward identification of the underlying autoantibody.
View Article and Find Full Text PDFBackground: Pyomyositis is a bacterial infection of skeletal muscle that classically leads to abscess formation. A related, but distinct, entity is infectious myositis. The epidemiology of these infections has changed in recent years.
View Article and Find Full Text PDFIntroduction: Neck ultrasonography with fine-needle aspiration cytology (FNAC) is the diagnostic modality of choice for clinicians who routinely work up a thyroid mass. Distinguishing chronic lymphocytic infiltration from a lymphoproliferative process with FNAC in patients with Hashimoto's thyroiditis presenting with a goiter can be particularly challenging.
Case Description: A 58 y.