Clinical decision points for two plasma p-tau217 laboratory developed tests in neuropathology confirmed samples.

Introduction: We evaluated the diagnostic performance of two commercial plasma p-tau217 immunoassays compared to cerebrospinal fluid (CSF) testing and neuropathology.

Methods: One hundred and seventy plasma samples from the University of British Columbia Hospital Clinic for Alzheimer's (AD) and Related Disorders were analyzed for p-tau217 using Fujirebio and ALZpath assays. Decision points were determined using CSF testing and autopsy findings as the standard.

Antiphospholipid syndrome, monoclonal gammopathy, and cryoglobulinemia overlap leading to recurrent cutaneous microvascular thrombosis: A case report and retrospective cohort study.

Antiphospholipid syndrome (APS), cryoglobulinemia, and monoclonal gammopathies are variably accompanied by thrombotic complications. We describe a patient with recurrent skin microvascular thrombosis, APS, cryoglobulinemia, marginal zone lymphoma, and IgMκ monoclonal gammopathy, responsive to chemoimmunotherapy. The cryoglobulin fraction contained the IgMκ paraprotein, while antiphospholipid antibodies (aPL) were predominantly in the cryosupernatant.

A case of AML with complex karyotype and chromosomal rearrangement of KMT2A.

This is a case of an elderly patient diagnosed with acute myeloid leukemia (AML). While morphological findings, including numerous long, slender, cigar-shaped Auer rods, suggested AML with t(8;21), cytogenetic and FISH analysis revealed abnormalities in chromosome 11 and the KMT2A (MLL) gene. The patient also exhibited double minutes, typically seen in AML and linked to a complex karyotype and poor prognosis.

Multiplex Imaging for Cell Phenotyping of Early Human Atherosclerosis.

Background: Previous studies using animal models and cultured cells suggest that vascular smooth muscle cells (SMCs) and inflammatory cytokines are important players in atherogenesis. Validating these findings in human disease is critical to designing therapeutics that target these components. Multiplex imaging is a powerful tool for characterizing cell phenotypes and microenvironments using biobanked human tissue sections.

Clinical value of Alzheimer's disease biomarker testing.

Introduction: In the Investigating the Impact of Alzheimer's Disease Diagnostics in British Columbia (IMPACT-AD BC) study, we aimed to understand how Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarker testing-used in medical care-impacted medical decision-making (medical utility), personal decision-making (personal utility), and health system economics.

Methods: The study was designed as an observational, longitudinal cohort study. A total of 149 patients were enrolled between February 2019 and July 2021.

Personal value of Alzheimer's disease biomarker testing and result disclosure from the patient and care partner perspective.

Introduction: We described patients' and care partners' experiences with Alzheimer's disease (AD) cerebrospinal fluid (CSF) biomarker testing and result disclosure in routine care.

Methods: IMPACT-AD BC is an observational study of clinic patients who underwent AD CSF biomarker testing as part of their routine medical care ( = 142). In the personal utility arm of the study, semi-structured phone interviews were conducted with a subset of patients ( = 34), and separately with their care partners ( = 31).

Treatment of Laryngeal Verrucous Carcinoma: 28-Year Retrospective Cohort Study and Literature Review.

Objective: Laryngeal verrucous carcinoma (LVC) comprises 1% to 4% of all laryngeal tumors. Although controversial, surgery has been the mainstay of treatment, due to concern about anaplastic transformation with radiotherapy. We aimed to study LVC patients to identify treatment patterns for primary and recurrent diseases.

A case of MDS/MPN overlap syndrome with ring sideroblasts and thrombocytosis: Tackling the quandary of thrombosis versus hemorrhage.

Key Clinical Message: No formal treatment guidelines for MDS/MPN-RS-T exist. With salient features such as anemia and thrombocytosis, management is individualized and aims to address anemia, thrombosis, and in some cases acquired von Willebrand's disease.

Abstract: Myelodysplastic/myeloproliferative overlap syndrome with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a rare myeloid neoplasm showing myelodysplastic and myeloproliferative features.

Degradation of red blood cell deformability during cold storage in blood bags.

Red blood cells (RBCs) stored in blood bags develop a storage lesion that include structural, metabolic, and morphologic transformations resulting in a progressive loss of RBC deformability. The speed of RBC deformability loss is donor-dependent, which if properly characterized, could be used as a biomarker to select high-quality RBC units for sensitive recipients or to provide customized storage timelines depending on the donor. We used the microfluidic ratchet device to measure the deformability of red blood cells stored in blood bags every 14 days over a span of 56 days.

A rare case of compartment syndrome and myonecrosis in a patient with hemoglobin SC disease.

Myonecrosis and compartment syndrome are rarely seen in sickle cell disease (SCD), and they have not been previously reported in HbSC disease. This case can potentially be recognized as the first case of a patient with HbSC presenting with spontaneous myonecrosis and compartment syndrome.

Rapid acanthocytic schistocytosis and fulminant microangiopathic hemolysis as a preterminal event.

Isolated schistocytosis is a hematological emergency. Clinically significant schistocytosis requires 1% red cell fragments in a high power field. These include triangular fragments, crescents, helmet cells, keratocytes, or microspherocytes.

NTRK2 Fusion driven pediatric glioblastoma: Identification of oncogenic Drivers via integrative Genome and transcriptome profiling.

This is the first report of a NACC2-NTRK2 fusion in a histological glioblastoma. Oncogenomic analysis revealed this actionable fusion oncogene in a pediatric cerebellar glioblastoma, which would not have been identified through routine diagnostics, demonstrating the value of clinical genome profiling in cancer care.

A case of LGL leukemia with paucity of erythropoiesis.

The differential diagnosis for neutropenia is large and includes, drug effect, viral infections, sepsis, immune, hypersplenism, and bone marrow disorder. The presence of an autoimmune disorder and large granular lymphocytosis should prompt assessment for immunophenotyping and in select cases a bone marrow biopsy to rule out LGL-leukemia.

Antiviral anticoagulation.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel envelope virus that causes coronavirus disease 2019 (COVID-19). Hallmarks of COVID-19 are a puzzling form of thrombophilia that has elevated D-dimer but only modest effects on other parameters of coagulopathy. This is combined with severe inflammation, often leading to acute respiratory distress and possible lethality.

Etoposide-based treatment of adult HLH is associated with high biochemical response but poor survival outcomes.

Etoposide-based treatment is the standard of care for adult HLH in many centers, yet there remains a paucity of data regarding treatment outcomes. We conducted a retrospective study of 23 adults treated with etoposide-based therapy compared to 10 pediatric HLH cases at a single center. At diagnosis, the median serum ferritin was 20,071 µg/L and 937 µg/L in adults and children, respectively; median sIL-2r was 14,524 U/mL and 4,478 U/mL.

An automated clinical mass spectrometric method for identification and quantification of variant and wild-type amyloid-β 1-40 and 1-42 peptides in CSF.

Introduction: We developed an automated liquid chromatography-tandem mass spectrometry high performance liquid chromatography tandem mass spectrometry (HPLC-MS/MS) method for multiplex quantification of wild-type (wt) amyloid β (Aβ) peptides 1-40 (Aβ40) and 1-42 (Aβ42) and detection of variant Aβ peptides in cerebrospinal fluid.

Methods: The multiplex Aβ HPLC-MS/MS assay was validated in a clinically accredited laboratory following regulatory guidelines, with Aβ42 calibration assigned to the ERM/IFCC certified reference material; sequence variants were additionally multiplexed into the method.

Results: Sample preparation was fully automated on a liquid handler.

Therapy related acute myeloid leukemia with blast cannibalism and cytophagocytosis.

The case of an 83-year old male patient is described. He presented to our hospital with a 2 week history of intermittent syncope and was diagnosed with atrial fibrillation. His CBC showed bicytopenia with anemia and neutropenia in context of a leucoerythroblastic blood film and blastemia.