A5068581151- Erythrocyte Function and Pathophysiology
- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Blood groups and transfusion
- Acute Lymphoblastic Leukemia research
- Cancer Genomics and Diagnostics
- Childhood Cancer Survivors' Quality of Life
- Genomic variations and chromosomal abnormalities
- Sphingolipid Metabolism and Signaling
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Acute Myeloid Leukemia Research
- Genetic factors in colorectal cancer
- Chronic Lymphocytic Leukemia Research
- SMEs Development and Digital Marketing
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Ethics and Legal Issues in Pediatric Healthcare
- Platelet Disorders and Treatments
- DNA Repair Mechanisms
- Congenital heart defects research
- Cancer-related gene regulation
- Hemoglobinopathies and Related Disorders
- Protein Tyrosine Phosphatases
- Myeloproliferative Neoplasms: Diagnosis and Treatment
Cleveland Clinic Lerner College of Medicine
2022-2025
Case Western Reserve University
2023-2025
Cleveland Clinic
2020-2024
Rockefeller University
2024
Foundation Center
2024
University Hospital Bonn
2023
National Center for Tumor Diseases
2023
St. Jude Children's Research Hospital
2017-2022
Institut Sains dan Teknologi Terpadu Surabaya
2021
Palmetto Hematology Oncology
2020
Objective Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in congenital main or sole clinical feature, 2 X‐linked ( L1CAM and AP1S2 ) autosomal recessive CCDC88C MPDZ ). In this study, we aimed determine genetic etiology familial with assumption that these cases represent forms disease. Methods Exome sequencing combined, where applicable, positional mapping. Results We...
Background Germline mutations in IKZF1 are associated with immunodeficiency and predisposition to hematologic malignancies, including acute lymphoblastic leukemia (ALL). The penetrance of clinical spectrum affected individuals remain incompletely defined due the rarity these mutations. Objective To describe features, subtypes, therapeutic responses, outcomes four germline Methods Four unrelated patients were identified through genetic testing. Clinical data, diagnosis, treatment regimens,...
Abstract Background The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, whether attenuates infection severity IEI. Objective To estimate examine effect on outcomes Methods We built a secure registry database conjunction the US Immunodeficiency Network to frequency indicators effectiveness IEI patients. opened January 1, 2022, closed August 19, 2022. Results Physicians entered data 1245 from 24...
Immunosuppressive therapy with horse antithymocyte globulin and cyclosporine currently remains the standard for children severe aplastic anemia (SAA) who lack human leukocyte antigen (HLA)-identical sibling. The thrombopoietin receptor agonist eltrombopag has been recently approved SAA patients 2 years older. However, there are limited data on its safety efficacy in pediatric cohorts.We conducted a retrospective study of ≤18 old consecutively diagnosed between 2000 2018. Patients received...
Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to an underlying hereditary risk syndrome requiring ongoing screening. Identification of at-risk through family history, clinical features a syndrome, or symptom onset ensures appropriate assessment management childhood beyond. In this 2024 perspective, we outline updates the GI screening guidelines first published by American Association Cancer Research Pediatric Predisposition Workshop 2017. These consider...
Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns the lethal developmental lung disease, alveolar capillary dysplasia misalignment pulmonary veins (ACDMPV). Interestingly, ACDMPV-causative deletions, involving FOXF1 or its lung-specific upstream enhancer at 16q24.1, arise almost exclusively on maternally inherited 16. Given phenotypic similarities between upd(16)mat and ACDMPV, together parental allelic bias...
Since the first confirmed case of COVID-19 infection in Indonesia March 2020, pandemic has hit economy hard, especially Micro, Small and Medium-sized Enterprises (MSMEs). This study aims to analyze extent impact on MSMEs effectiveness government policy measures. Primary data was collected through a questionnaire administered 2,535 17 provinces during July–September 2020. The results show that already suffered revenue slump within second month encountered both financial non-financial...
TCF3 is a transcription factor contributing to early lymphocyte differentiation. Germline monoallelic dominant negative and biallelic loss-of-function (LOF) null mutations cause fully penetrant severe immunodeficiency. We identified 8 individuals from 7 unrelated families with LOF variants presenting immunodeficiency incomplete clinical penetrance.
The Janus kinase 2 (JAK2) V617F mutation activates the transcription pathway and has been well-characterized as a driver of myeloproliferative neoplasms (MPNs). Recently, there heightened interest in understanding germline predisposition to hematological malignancies including MPN, several reports familial MPN. Here, we retrospectively analyzed medical records data from genetic testing describe twelve patients with variants at amino acid position 564 JAK2. This includes three supportive...
Historically, qualitative research has complemented quantitative biologic and epidemiologic studies to provide a more complete understanding of pandemics. The COVID-19 pandemic generated unique novel challenges for researchers, who have embraced creative solutions including virtual focus groups rapid analyses continue their work. We present our experience conducting multilingual global study healthcare resilience among teams pediatric oncology professionals during the pandemic. an in-depth...
Secondary sarcomas are a subset of that occur in patients with prior cancer diagnoses and associated environmental or genetic factors. Although secondary rare general, there predisposing factors can substantially increase this risk certain populations. Herein, we review the strongest association sarcoma risk, including chemical exposure, viruses, cytotoxic immunosuppressive agents, chronic edema, radiation exposure. Additionally, most common disorders carry predisposition for development...
Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of glycolytic pathway and common cause hereditary nonspherocytic hemolytic anemia. Over 250 PKLR-gene mutations have been described, including missense/nonsense, splicing regulatory mutations, small insertions, gross deletions, causing PKD anemia variable severity. Alu retrotransposons are abundant mobile DNA sequences in human genome, contributing to almost 11% its mass. insertions associated with a...