A5066337989- Glioma Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
- Fetal and Pediatric Neurological Disorders
- Chromatin Remodeling and Cancer
- Bone Tumor Diagnosis and Treatments
- Cerebrospinal fluid and hydrocephalus
- Cancer-related molecular mechanisms research
- Testicular diseases and treatments
- Osteoarthritis Treatment and Mechanisms
- Histiocytic Disorders and Treatments
- Fibroblast Growth Factor Research
- Pediatric Urology and Nephrology Studies
- Peptidase Inhibition and Analysis
- Urological Disorders and Treatments
- Tuberous Sclerosis Complex Research
- Infant Nutrition and Health
- Neurological Complications and Syndromes
- Multiple Myeloma Research and Treatments
- Urinary Bladder and Prostate Research
- Folate and B Vitamins Research
- Neurological Disease Mechanisms and Treatments
- Protease and Inhibitor Mechanisms
- Vascular Tumors and Angiosarcomas
- Viral-associated cancers and disorders
- Glaucoma and retinal disorders
Miami Children's Hospital
2008-2024
Cedars-Sinai Medical Center
2019
Boston Children's Hospital
2012
University of South Florida
2001-2004
Florida College
2002-2004
Tampa General Hospital
2001-2002
Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset gangliogliomas are known to harbor activating p.V600E mutation in BRAF oncogene, genetic alterations responsible remainder largely unknown, as spectrum any additional cooperating gene mutations or copy number alterations. We performed targeted next-generation sequencing provides comprehensive assessment mutations, fusions, and on cohort 40...
The FGFR1 gene encoding fibroblast growth factor receptor 1 has emerged as a frequently altered oncogene in the pathogenesis of multiple low-grade neuroepithelial tumor (LGNET) subtypes including pilocytic astrocytoma, dysembryoplastic (DNT), rosette-forming glioneuronal (RGNT), and extraventricular neurocytoma (EVN). These activating alterations LGNET can include tandem duplication exons intracellular tyrosine kinase domain, in-frame fusions most often with TACC1 partner, or hotspot...
Abstract A child with acute pre‐B cell lymphoblastic leukemia underwent haploidentical bone marrow transplantation (BMT) after first relapse. Approximately 8 months the BMT, he developed a soft tissue mass overlying defect in left frontal bone. He was found to have several additional osteolytic lesions but no evidence of lymphadenopathy or organomegaly. biopsy presenting lesion demonstrated polymorphous infiltrate composed predominantly S‐100 protein and CD68 immunoreactive histiocytic...
Ultrasonography at 23 weeks of gestation documented the presence megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic fluid volume. After pregnancy termination, an autopsy was performed. The external phenotype diagnostic trisomy 18 syndrome confirmed by chromosome examination. fetus also had a massively distended bladder parchment-thin wall, malrotation but no urethral obstruction or hydronephrosis. No ganglion cells were present in colon bladder. This...
Neurocytomas are typically intraventricular in location, and extraventricular neurocytomas uncommon. The authors report the unique case of a 15-year-old girl who was found to have low-grade neurocytoma infiltrating brainstem cerebellum spreading along CSF pathways lateral third ventricles. patient underwent endoscopic ventriculostomy treat associated hydrocephalus, biopsy specimens from tumor nodules were obtained. Because pathology, fact that lesion not amenable resection, extensive...
Congenital cervical germ cell tumors are a rare location for extragonadal that may lead to acute airway obstruction. We present the unique case and successful resection of an immature teratoma. Urgent Ex Utero Intrapartum Treatment (EXIT) procedure was performed via Cesarean section with subsequent endotracheal intubation maintain airway. Successful surgical mass at day six life showing histologically teratoma along gliomatosis in surrounding lymph node tissue. The patient recovered well no...
Multicystic encephalopathy is a rare neurological finding characterized by the appearance of multiple cystic or cavitary lesions as result repetitive episodes hypoxic-ischemic injury in neonates and infants. We present case multicystic 3-month-old male, born at 34 weeks with Tetralogy Fallot comorbidities. Gross examination brain during autopsy revealed irregular distortion parenchyma. This report highlights uniqueness offers an extensive review existing literature, including etiology,...
This 17-day-old African-American girl was admitted to hospital for hypothermia and decreased oral intake. She born prematurely at 34 weeks. The mother had prolonged rupture of the membranes for...
(2001). Cellular Mesoblastic Nephroma. Pediatric Pathology & Molecular Medicine: Vol. 20, No. 5, pp. 439-444.
Ultrasonography at 23 weeks of gestation documented the presence megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic fluid volume. After pregnancy termination, an autopsy was performed. The external phenotype diagnostic trisomy 18 syndrome confirmed by chromosome examination. fetus also had a massively distended bladder parchment-thin wall, malrotation but no urethral obstruction or hydronephrosis. No ganglion cells were present in colon bladder. This...
e23551 Background: Pediatric sarcomas make up 10% of pediatric tumors and involve a varied range histological patterns with different prognosis which creates therapeutic challenges. Neonatal presentation is rare among poses further challenges in therapy. Methods: We present 5 cases congenital reporting pathology, genetics, treatment, outcomes. retrospectively identified patients diagnosed the neonatal period from single institution Miami 2017 – 2022 order to identify similarities between...
We present 5-year-old girl with no previous medical history who presented gait ataxia and right-sided angling of the head approximately 2-week duration. She underwent brain MRI scan which revealed hydrocephalus a tectal tumor. Endoscopic biopsy placement 3rd ventricle ventriculostomy …
We present a 10-year-old boy who developed sudden-onset severe posterior occipital/neck pain associated with vomiting. Upon admission to the hospital, CT scan showed intraventrucular hemorrhages in all ventricles, subarachnoid blood, and ventriculomegaly. arrival his pupils were fixed dilated he was unresponsive deep painful stimuli no corneal reflexes noted. …
Alpha-1-antitrypsin (AAT) deficiency is a common genetic cause of liver disease in the pediatric population (1). AAT caused by mutation SERine Protease Inhibitor A1 (SERPINA1) gene on chromosome 14q32.1 (2), leading to intracellular accumulation mutant protein and subsequent hepatocellular damage We present case 2-month-old male patient with jaundice diagnosed rare variant owing phenotype PI∗IS. CASE DESCRIPTION A presented hepatomegaly. He had an unremarkable birth history; he was born...
Abstract BACKGROUND Rosette-forming glioneuronal tumor (RGNT) is an uncommon CNS originally described in the fourth ventricle characterized by a low-grade glial neoplasm admixed with rosette-forming neurocytic component. METHODS We reviewed clinicopathologic features of 42 patients RGNT. Targeted next-generation sequencing was performed, and genome-wide methylation profiling underway. RESULTS The 20 male 22 female had mean age 25 years (range 3–47) at time diagnosis. Tumors were located...
A 15-year-old black male presented with shortness of breath, leg weakness, and pain in his back rib cage. Four years previously he had noticed a lump upper complained when playing basketball, especially on contact to that area. Recently, the become more constant increased intensity. This was associated loss control legs, parasthesia. General physical examination revealed palpable mass right midline back. Laboratory results were within normal limits. Radiographic scans demonstrated...
Abstract An apparently iniencephalic or exencephalic monoamniotic monochorionic female twin fetus, delivered as a fetus papyraceus at 28 weeks of gestation, had severe anomalies the central nervous system and spine, including occipital encephalocele with defect bone. The contained spherical mass autolyzed brain tissue without identifiable cerebellum vermis. cervical canal was widely patent dorsally, there were bony anomalies, agenesis fusion vertebrae in cervicothoracic spine. upper limbs...