A5042033528- Cancer-related Molecular Pathways
- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Histiocytic Disorders and Treatments
- Parvovirus B19 Infection Studies
- Glioma Diagnosis and Treatment
- Autoimmune and Inflammatory Disorders Research
- Immune Cell Function and Interaction
- Genetics and Neurodevelopmental Disorders
- Immunodeficiency and Autoimmune Disorders
- COVID-19 Clinical Research Studies
- Tumors and Oncological Cases
- HIV Research and Treatment
- Cardiac tumors and thrombi
- Testicular diseases and treatments
- Soft tissue tumor case studies
- Vascular Malformations and Hemangiomas
- Adolescent and Pediatric Healthcare
- DNA Repair Mechanisms
- Long-Term Effects of COVID-19
- Vascular Tumors and Angiosarcomas
- Viral-associated cancers and disorders
- Genital Health and Disease
- Ocular Oncology and Treatments
- Surgical site infection prevention
Cohen Children's Medical Center
2015-2025
Northwell Health
2020-2025
Donald & Barbara Zucker School of Medicine at Hofstra/Northwell
2021-2025
Hofstra University
2010-2024
Schneider Children's Hospital
2010-2021
St. Jude Children's Research Hospital
2017
University of Tennessee Health Science Center
2017
Feinstein Institute for Medical Research
2015
Albert Einstein College of Medicine
2011
Brooklyn Hospital Center
2008
Abstract Background Hemophagocytic lymphohistiocytosis (HLH) can be familial or secondary, which is often triggered by infection malignancy. HLH therapy includes dexamethasone and etoposide. However, associated with significant morbidity mortality. Anakinra, a recombinant interleukin‐1 receptor antagonist, has been reported to treat macrophage activation syndrome (MAS), rheumatic sHLH. We report our experience anakinra patients nonrheumatic secondary (sHLH). Procedure Six children were...
Multisystem inflammatory syndrome in children (MIS-C) affects few previously infected with severe acute respiratory coronavirus 2 (SARS-CoV-2). In 2020, 45 admitted to our hospital for MIS-C underwent genetic screening a commercial 109-immune-gene panel. Thirty-nine were diagnosed MIS-C, and 25.4% of the 39 patients harbored rare heterozygous missense mutations either primary hemophagocytic lymphohistiocytosis (pHLH) genes (LYST, STXBP2, PRF1, UNC13D, AP3B1) or HLH-associated gene DOCK8...
Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune and predisposition to early‐onset cancer. The available treatments for BSyn are symptomatic, early identification of complications has the potential improve outcomes. To accomplish this, standardized recommendations health supervision needed diagnosis treatment. purpose this report use information from Registry, published literature, expertise...
This study aimed to assess whether targeted exome sequencing (TES) outperforms next- generation (NGS) panels in detecting clinically actionable cancer predisposition syndromes (CPS) pediatric patients. Patients with underwent genetic counseling and NGS panel testing (27 or 64 genes). Simultaneously, a 616-gene exome, including the genes 552 additional potential cancer-related genes, was conducted on patients their parents. Out of 42 undergoing both tests, identified an APC risk allele (RA)...
Purpose: The authors report Ewing's sarcoma in a patient with congenital optic atrophy. Congenital atrophy is an autosomal dominant disorder variable expression. It manifests itself within the first decade of life and accompanied by changes visual acuity. This condition has not been known to cause predisposition toward malignancy. Patient Methods: In this article, 16-year-old girl described. Results: After tumor resection, was successfully treated for chemotherapy radiation therapy. Today...
Purpose The clinical features, pathogenesis, and outcomes in children with adrenocortical tumors (ACTs) without germline TP53 mutations have not been systematically studied. Herein, we describe these correlates analyze their association outcome. Patients Methods Genomic DNA was analyzed for TP53, CTNNB1, CDKN1C, ATRX, chromosome 11p15 abnormalities. β-catenin expression Ki-67 labeling index (LI) were evaluated by immunostaining. Primary end points progression-free (PFS) overall survival....
Esophageal cancer is rare in children and limited to isolated case reports. We describe 2 cases of esophageal carcinoma (1 each squamous cell adenocarcinoma) present literature review childhood.Both our patients had common symptoms progressive dysphagia significant weight loss at presentation. were unable identify any specific predisposing factors for either adenocarcinoma (caustic ingestion, reflux disease, Barrett esophagus) or inherited bone marrow failure syndromes). Both responded...
Abstract Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li–Fraumeni syndrome (LFS). Here, we identified tetramerization domain missense mutation, c.1000G>C;p.G334R, family with multiple late-onset LFS-spectrum cancers. Twenty additional c.1000G>C probands and one c.1000G>A proband were identified, available tumors showed biallelic somatic inactivation of TP53. The majority families Ashkenazi Jewish descent, the allele was found on commonly...
Abstract Bevacizumab is a monoclonal antibody targeting vascular endothelial growth factor (VEGF). Hypertension well‐recognized, common side effect of VEGF blocking agents. The reversible posterior leukoencephalopathy syndrome (RPLS) has been described as rare but serious consequence bevacizumab administration. We present case 6‐year‐old child with refractory hepatoblastoma who developed hypertensive crisis, seizures and MRI changes consistent RPLS while receiving gemcitabine oxaliplatin....
Infection with the severe acute respiratory syndrome coronavirus 2 causes lung injury in approximately 5% of infected adults, but few reports have been made pediatric disease. We present an adolescent patient who contracted one week after a paternal haplo-identical hematopoietic stem cell transplant, development hyperferritinemic and macrophage activation-like syndrome. her case comparison laboratory data those cohort patients disease 2019 without
Summary Over 50% of patients with systemic LCH are not cured front‐line therapies, and data to guide salvage options limited. We describe 58 who were treated clofarabine. Clofarabine monotherapy was active against in this cohort, including heavily pretreated a objective response rate 92.6%, higher children (93.8%) than adults (83.3%). BRAF V600E+ variant allele frequency peripheral blood is correlated clinical responses. Prospective multicentre trials warranted determine optimal dosing,...
Since patients with langerhans cell histiocytosis and neurologic dysfunction (LCH-ND) often have incomplete treatment responses we sought a new regimen. Because of clinical benefit from rituximab in multiple sclerosis neurodegeneration, evaluated its use LCH-ND.Eight LCH-ND who had failed prior therapies.Charts the 8 treated were reviewed. Signs/symptoms MRI assessed.Seven eight experienced some improvement: gait abnormalities tremors four children, proprioceptive deficits 2,...
Most children treated for immune thrombocytopenia remit during the first year following diagnosis. For ∼40% who develop persistent or chronic disease, second-line treatment options include immunomodulation and thrombomimetic agents. While immunomodulators target underlying mechanism, prolonged immunosuppression may increase risk of infection. We report use reversible immunomodulating agent mycophenolate mofetil (MMF) in 16 pediatric patients with refractory to first-line treatment. Using...
Osteochondromas typically arise in the appendicular skeleton, with axial lesions occurring less commonly. Osteochondroma of spine resulting cord compression and symptomatic myelopathy is relatively rare. Most cases are reported adolescents adults. Consequently, there a scarcity literature regarding its occurrence pediatric population. We report case cervical osteochondroma C4-6 nine-year-old girl. Surgical excision laminectomy laminotomy successfully resolved all neurologic deficits. A...
Juvenile xanthogranuloma (JXG) with extensive cutaneous or visceral organ involvement is often associated high morbidity and treatment commonly involves surgical excision, radiotherapy, systemic steroids, chemotherapy. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, an oral antitumor immunosuppressive therapy used to treat various neoplastic disorders, including histiocytic disorders. We report two pediatric cases JXG successfully treated sirolimus monotherapy, postulate that...