Photoscreening for Retinoblastoma
RetinoblastomaRetinoblastoma is the most common pediatric eye malignancy and manifests between 1 and 5 years of age. The tumor is most often diagnosed by leukocoria ( white reflex in the pupil). There is often a significant delay in diagnosis and early diagnosis enables good life prognosis and better vision outcome.There is currently not a standardized screening protocol for detection of retinoblastoma. Vision screening methods are recommended for children 3-5 years of age. The investigators are attempting to use instrument based screening started from birth to detect leukocoria.
Morphological Analysis of the Pineal Gland in Pediatric Retinoblastoma Patients Using Magnetic Resonance...
RetinoblastomaPineoblastomaMRI is useful for diagnosing pinealoblastoma in retinoblastoma patients
Attention to Retinoblastoma Diagnosed in the Trauma Setting
RetinoblastomaWounds and InjuryTo study the clinical characteristics and treatment outcomes of patients who experienced inadvertent trauma before diagnosis of retinoblastoma.
Research on the Environment and Children's Health: Retinoblastoma
RetinoblastomaThe purpose of the research study is to learn more about the causes of retinoblastoma and to identify possible risk factors in the parents of patients with retinoblastoma. This kind of study is called an epidemiology study and is often done by interviewing people with and without the disease. In the case of a childhood disease, the researchers ask about experiences of the parents and children before the disease developed.
New Strategies to Detect Cancers in Carriers of Mutations in RB1
RetinoblastomaSecondary Primary Malignancies After RetinoblastomaRationale: Individuals with a cancer predisposition due to a mutation in the paradigm tumor suppressor gene RB1, have a high risk to develop the childhood cancer retinoblastoma (Rb). Biopsies are not possible in Rb, before treatment selection. Heritable Rb patients have also a high risk to develop other types of second primary, either childhood or adult, malignancies (SPMs), notably sarcomas and melanomas. Remarkably, SPMs are now the leading cause of death in heritable-Rb-survivors. Unfortunately, there are no well-developed regular surveillance protocols for SPMs in Rb survivors available right now. Recently, new non-invasive cancer test have been developed, based on either RNA-sequencing data from platelets (ThromboSeq), or on extracellular membrane vesicles (EVs) derived from tumor cells present in blood. Objective: Determine the non-cancerous baseline in adult RB1-mutation carriers (heritable-Rb-survivors). Contribute to the biobanking of blood and cancerous tissues from RB1-mutation carriers with SPMs. The development of blood-based tests, either platelet or EV-based, for the detection of (the type of) tumors in RB1-mutation carriers. Study design: Cross-sectional multicenter trial. Study population: 40 Rb patients (children), 40 controls (children), 153 Rb survivors (adults), 153 controls (adults), 10 Rb survivors with SPM (children/adults). Main study parameters/endpoints: Determine the non-cancerous baseline in adult RB1-mutation carriers (heritable-Rb-survivors). Contribute to the biobanking of blood and cancerous tissues from RB1-mutation carriers with SPMs. Nature and extent of the burden and risks associated with participation, benefit and group relatedness: Two blood samples totalling 10ml blood will be collected for every participant. Additionally, a short questionnaire has to be filled in concerning their and their family's cancer history. Blood draws will be done, when participants are already present in the hospital for other appointments, and thus no extra visits are required. For all children, blood will be collected through an already present IV, and so no extra venepuncture is required. Children have to be included because Rb is a tumor only present in this patient group.
Superselective Intra-arterial Chemotherapy Treatment for Retinoblastoma- 5 Year Results From Turkey...
RetinoblastomaRetrospective review of 5-year long term outcomes of superselective intra-arterial chemotherapy treatment in retinoblastoma in a single institute. The treatment outcomes, globe salvage rates and complications of superselective intra-arterial chemotherapy both for treating naive patients (primary treatment group) and for patients who received systemic chemotherapy previously (secondary treatment group) were evaluated.
Cardio-respiratory Events During Ophthalmic Artery Chemotherapy for Retinoblastoma Under a Deep...
RetinoblastomaBackground: Serious adverse cardio-respiratory events (SCRE) occur during super selective ophthalmic artery chemotherapy for retinoblastoma in children. SCRE mechanism remains unclear but may be attributed to an autonomic nervous reflex induced by catheterization of the ophthalmic artery. The investigators hypothesize that inadequacy between depth of anesthesia and catheter stimulation might be a support cause of these SCRE. Methods: Children requiring super selective ophthalmic artery chemotherapy for retinoblastoma are prospectively included in this observational study. Endovascular procedures are performed under standardized and deep general anesthesia with sevoflurane, sufentanil and rocuronium. SCRE are strictly pre-defined and included arterial hypotension, bradycardia and bronchospasm. SCRE are recorded and the factors influencing their occurrence are investigated.
Heart Rate Variability and Cardiorespiratory Complications During Ophthalmic Arterial Chemotherapy...
Parasympathetic Cardiovascular Function DisorderA patient undergoing ophthalmic arterial chemosurgery may experience a sudden, profound decrease in lung compliance when the microcatheter is in the ICA or ophthalmic artery. However, underlying pathophysiology of the respiratory complication is unknown. In this study, the investigators are going to investigate the relation between underlying balance of parasympathetic and sympathetic tone and the respiratory complications by analyzing heart rate beat-to-beat variability.
Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma
RetinoblastomaThe goal of this study is to determine if human RB1-deficient induced pluripotent stem cells (iPSCs) can produce retina, and, furthermore, can give rise to retinoblastoma in culture. This unique opportunity to study the initiation of retinoblastoma in the developing retina will shed light on the cell of origin for retinoblastoma and allow the investigators to study the earliest molecular and cellular events in retinoblastoma tumorigenesis. OBJECTIVES: To establish the feasibility of producing induced pluripotent stem cells (iPSCs) from retinoblastoma patients with germline RB1 mutations (RB1-deficient iPSCs). To validate human RB1-deficient iPSCs by confirming karyotype, pluripotency and RB1 mutation. To differentiate the RB1-deficient iPSCs into retina as a model of the initiation of retinoblastoma in the developing retina.
Treatment of Intraocular Retinoblastoma
RetinoblastomaThis study compares the effects of balloon technology and microcatheter technology on the eye protection rate of neuroblastoma