Kevin H.M. Kuo
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View article: Clinical Complications, Mortality, and Healthcare Resource Utilization of Patients with Sickle Cell Disease with Recurrent Vaso-Occlusive Crises in Ontario, Canada: A Retrospective Cohort Study
Clinical Complications, Mortality, and Healthcare Resource Utilization of Patients with Sickle Cell Disease with Recurrent Vaso-Occlusive Crises in Ontario, Canada: A Retrospective Cohort Study Open
Patients with SCD with recurrent VOCs had substantially higher rates of complications, mortality, and HCRU than controls, further highlighting the need for novel therapies to reduce VOCs and the associated burden.
View article: Utility of Placental Growth Factor (PlGF) for preeclampsia prediction in pregnancies complicated by Sickle Cell Disease
Utility of Placental Growth Factor (PlGF) for preeclampsia prediction in pregnancies complicated by Sickle Cell Disease Open
Outside of pregnancy, Placental Growth Factor (PlGF), is produced by erythroid cells in typically undetectable levels. In pregnancy, PlGF is strongly expressed by the trophoblast layer covering the placental villi. PlGF levels rise progres…
View article: Research in Collaborative Learning Does Not Serve Cross-Silo Federated Learning in Practice
Research in Collaborative Learning Does Not Serve Cross-Silo Federated Learning in Practice Open
Cross-silo federated learning (FL) is a promising approach to enable cross-organization collaboration in machine learning model development without directly sharing private data. Despite growing organizational interest driven by data prote…
View article: Improvements in Health-Related Quality of Life in Patients with Transfusion-Dependent β-Thalassemia After Exagamglogene Autotemcel
Improvements in Health-Related Quality of Life in Patients with Transfusion-Dependent β-Thalassemia After Exagamglogene Autotemcel Open
Transfusion-dependent β-thalassemia (TDT) can have negative impacts on a patient's health-related quality of life (HRQoL). Exagamglogene autotemcel (exa-cel) is a one-time, ex vivo CRISPR-Cas9 gene-edited cell therapy for TDT shown in a Ph…
View article: Improvements in Health-Related Quality of Life in Patients with Severe Sickle Cell Disease After Exagamglogene Autotemcel
Improvements in Health-Related Quality of Life in Patients with Severe Sickle Cell Disease After Exagamglogene Autotemcel Open
Severe sickle cell disease (SCD), an inherited blood disorder characterized by recurrent vaso-occlusive crises (VOCs), has substantial negative impact on health-related quality of life (HRQoL). Exagamglogene autotemcel (exa-cel), a one-tim…
View article: Luspatercept versus mitapivat for non‐transfusion‐dependent β‐thalassemia: Dare to compare?
Luspatercept versus mitapivat for non‐transfusion‐dependent β‐thalassemia: Dare to compare? Open
View article: Risk factors for immediate postpartum sickle cell disease‐specific maternal morbidity
Risk factors for immediate postpartum sickle cell disease‐specific maternal morbidity Open
Summary Pregnant individuals with sickle cell disease (SCD) are more likely to have postpartum complications. In this retrospective single‐centre study, 201 pregnancies from 145 individuals were assessed between 2000 and 2018 for the prese…
View article: Long‐term efficacy and safety of mitapivat in non‐transfusion‐dependent α‐ or β‐thalassaemia: An open‐label phase 2 study
Long‐term efficacy and safety of mitapivat in non‐transfusion‐dependent α‐ or β‐thalassaemia: An open‐label phase 2 study Open
Summary Non‐transfusion‐dependent thalassaemia (NTDT) can result in serious complications and comorbidities that can impact patients' quality of life. Mitapivat, a first‐in‐class, oral, small‐molecule allosteric activator of red blood cell…
View article: Hepatobiliary complications in patients with sickle cell disease: A 30-year review of 1009 patients
Hepatobiliary complications in patients with sickle cell disease: A 30-year review of 1009 patients Open
Background: Sickle cell disease (SCD) is the most common hemoglobinopathy. We aimed to identify the prevalence of hepatobiliary injury and its association with mortality in SCD. Methods: Patients with SCD followed at a dedicated clinic at …
View article: Assessment of Inter-Reader Reliability of Fazekas Scoring on Magnetic Resonance Imaging of the Brain in Adult Patients with Sickle Cell Disease
Assessment of Inter-Reader Reliability of Fazekas Scoring on Magnetic Resonance Imaging of the Brain in Adult Patients with Sickle Cell Disease Open
Background/Objectives: Cerebral white matter disease is a common finding in patients with sickle cell that has been linked to cognitive impairment. However, there is no standardized approach for quantification of the cerebral disease burde…
View article: Non‐Transfusion‐Dependent Thalassemia: An Image Gallery Worth a Thousand Words
Non‐Transfusion‐Dependent Thalassemia: An Image Gallery Worth a Thousand Words Open
View article: NeurIPS 2023 Competition: Privacy Preserving Federated Learning Document VQA
NeurIPS 2023 Competition: Privacy Preserving Federated Learning Document VQA Open
The Privacy Preserving Federated Learning Document VQA (PFL-DocVQA) competition challenged the community to develop provably private and communication-efficient solutions in a federated setting for a real-life use case: invoice processing.…
View article: Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias – pilot study protocol
Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias – pilot study protocol Open
Introduction Membranopathies encompass haemolytic disorders arising from genetic variants in erythrocyte membrane proteins, including hereditary spherocytosis and stomatocytosis. Congenital dyserythropoietic anaemia type II (CDA II) is ass…
View article: Novel diagnostic and prognostic approach for rapidly progressive dementias: Indicators based on amyloid/tau/neurodegeneration (<scp>ATN</scp>) framework
Novel diagnostic and prognostic approach for rapidly progressive dementias: Indicators based on amyloid/tau/neurodegeneration (<span>ATN</span>) framework Open
Aims Apply established cerebrospinal fluid (CSF) and serum biomarkers and novel combined indicators based on the amyloid/tau/neurodegeneration (ATN) framework to improve diagnostic and prognostic power in patients with rapidly progressive …
View article: Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry
Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry Open
Summary Pyruvate kinase (PK) deficiency, a rare, congenital haemolytic anaemia caused by mutations in the PKLR gene, is associated with many clinical manifestations, but the full disease burden has yet to be characterised. The Peak Registr…
View article: PB-04 Induces HbF Expression in a Ph1b Trial in Sickle Cell Disease
PB-04 Induces HbF Expression in a Ph1b Trial in Sickle Cell Disease Open
Presentation Date: 6/9/2024 Presentation Start Time: 2:27:00 PM Background Fetal hemoglobin (HbF) is established as a potent modulator of severity in sickle cell disease (SCD); any increment has been shown to be beneficial. Hydroxyurea mai…
View article: Clinically meaningful improvements in patient‐reported outcomes in mitapivat‐treated patients with pyruvate kinase deficiency
Clinically meaningful improvements in patient‐reported outcomes in mitapivat‐treated patients with pyruvate kinase deficiency Open
Clinically meaningful benefits in the signs, symptoms, and impacts of #PKDeficiency as assessed by disease-specific patient-reported outcome measures were observed in mitapivat-treated adult patients in two phase 3 clinical trials.
View article: Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency
Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency Open
Pyruvate kinase (PK) deficiency is a rare, hereditary disease characterized by chronic hemolytic anemia. Iron overload is a common complication regardless of age, genotype, or transfusion history. Mitapivat, an oral, allosteric PK activato…
View article: The genetic architecture of the human hypothalamus and its involvement in neuropsychiatric behaviours and disorders
The genetic architecture of the human hypothalamus and its involvement in neuropsychiatric behaviours and disorders Open
Despite its crucial role in the regulation of vital metabolic and neurological functions, the genetic architecture of the hypothalamus remains unknown. Here we conducted multivariate genome-wide association studies (GWAS) using hypothalami…
View article: Pregnancy outcomes and iron status in β-thalassemia major and intermedia: a systematic review and meta-analysis
Pregnancy outcomes and iron status in β-thalassemia major and intermedia: a systematic review and meta-analysis Open
Advancements in orally bioavailable iron chelators and MRI methods have improved life expectancy and reproductive potential in thalassemia major (TM) and thalassemia intermedia (TI). Pregnancy is associated with adverse maternal and neonat…
View article: Αlpha-thalassemia: A practical overview
Αlpha-thalassemia: A practical overview Open
α-Thalassemia is an inherited blood disorder characterized by decreased synthesis of α-globin chains that results in an imbalance of α and β globin and thus varying degrees of ineffective erythropoiesis, decreased red blood cell (RBC) surv…
View article: Pharmacologic Therapies in Beta Hemoglobinopathies: Fetal Globin Gene Induction in the First Molecular Diseases
Pharmacologic Therapies in Beta Hemoglobinopathies: Fetal Globin Gene Induction in the First Molecular Diseases Open
Beta hemoglobinopathies and thalassemias are caused by diverse molecular mutations of the βA globin chains and modulated by polymorphisms. These are important disorders in medical history, as they became prevalent globally in regions where…
View article: THromboprophylaxis In Sickle Cell Disease with central venous catheters (THIS): an internal pilot randomised controlled trial protocol
THromboprophylaxis In Sickle Cell Disease with central venous catheters (THIS): an internal pilot randomised controlled trial protocol Open
Introduction Individuals with sickle cell disease (SCD) and central venous catheters (CVC) are at high risk for venous thromboembolism (VTE). Minimal data exist regarding the use of anticoagulation as thromboprophylaxis of VTE in this demo…
View article: Blood pressure thresholds for the diagnosis of hypertensive disorders of pregnancy in sickle cell disease
Blood pressure thresholds for the diagnosis of hypertensive disorders of pregnancy in sickle cell disease Open
Summary In this retrospective cohort study of singleton pregnancies in people with sickle cell disease (SCD) delivered at two academic centres between 1990 and 2021, we collected demographic and SCD‐related data, pregnancy outcomes, and th…
View article: Pyruvate kinase activators: targeting red cell metabolism in thalassemia
Pyruvate kinase activators: targeting red cell metabolism in thalassemia Open
Thalassemia is an inherited red blood cell disorder whereby the qualitative and/or quantitative imbalance in α- to β-globin ratio results in hemolysis and ineffective erythropoiesis. Oxidative stress, from the precipitated excess globin an…
View article: Life after sickle cell disease, is it really uhuru?
Life after sickle cell disease, is it really uhuru? Open
View article: Author Correction: The brain structure, immunometabolic and genetic mechanisms underlying the association between lifestyle and depression
Author Correction: The brain structure, immunometabolic and genetic mechanisms underlying the association between lifestyle and depression Open
View article: Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits
Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits Open
The cerebral ventricles are recognized as windows into brain development and disease, yet their genetic architectures, underlying neural mechanisms and utility in maintaining brain health remain elusive. Here we aggregated genetic and neur…
View article: Longitudinal associations of cardiovascular health and vascular events with incident dementia
Longitudinal associations of cardiovascular health and vascular events with incident dementia Open
Introduction Evidence supporting cardiovascular diseases could increase the risk of dementia remains fragmented. A comprehensive study to illuminate the distinctive associations across different dementia types is still lacking. This study …
View article: Natural history of blood pressure in sickle cell disease pregnancy
Natural history of blood pressure in sickle cell disease pregnancy Open
Summary In this retrospective cohort study of singleton pregnancies in people with sickle cell disease (SCD) delivered at two academic centres between 1990 and 2021, we collected demographic and SCD‐related data, pregnancy outcomes, and th…