retinoblastoma/seizures

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Ophthalmic artery catheterization for retinoblastoma treatment: does reflux affect tumor response?

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Intra-arterial chemotherapy (IAC) for retinoblastoma (Rb) has been established as a primary treatment for the disease. To determine whether the presence of reflux into the ICA is associated with tumor response or with any other adverse events in pediatric retinoblastoma

Interstitial deletion of 13q and a 13;X chromosome translocation results in partial trisomy 13 and bilateral retinoblastoma.

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BACKGROUND Abnormalities of chromosome 13 have been associated with bilateral retinoblastoma. Deletion of a retinoblastoma gene is a common primary mechanism. Other abnormalities are more rare. To our knowledge, a balanced translocation of the long arms of the X and 13 chromosomes associated with

Retinoblastoma as a congenital primary intracranial tumor.

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This report describes a rare case of retinoblastoma presenting as a congenital primary intracranial tumor. A 7-day-old infant presented with generalized seizures. He had a family history of retinoblastoma. Computed tomography of the brain revealed a midline suprasellar tumor without evidence of

Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.

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A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma

Retinoblastoma Control With Primary Intra-arterial Chemotherapy: Outcomes Before and During the Intravitreal Chemotherapy Era.

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OBJECTIVE To compare outcomes of intra-arterial chemotherapy for retinoblastoma as primary therapy before (Era I) and during (Era II) the intravitreal chemotherapy era. METHODS In this retrospective interventional case series at a tertiary referral center, 66 eyes of 66 patients with untreated

Ablation of p27 enhance kainate-induced seizure and hippocampal degeneration.

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p27 is a cyclin-dependent kinase inhibitor which arrests cell cycle at G1-S phase. Using RNA interference method, we previously showed that reduction of endogenous p27 expression induces cell death through cell cycle progression in cultured cortical neurons. In this study, we investigated responses

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

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Patients with an interstitial 13q deletion that contains the RB1 gene show retinoblastoma and variable clinical features. Relationship between phenotypic expression and loss of specific neighboring genes are unresolved, yet. We obtained clinical, cytogenetic and molecular data in 63 patients with an

Successful Treatment of Relapsed Isolated Extraocular Retinoblastoma in the Right Fibula With High-dose Chemotherapy and Autologous Stem Cell Transplantation.

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Literature on high-dose chemotherapy followed by autologous stem cell rescue in relapsed retinoblastoma is limited to <150 cases reported so far. We present our experience and the challenges faced in the management of a 7-year-old boy with relapsed isolated extraocular retinoblastoma in the right

Intra-arterial chemotherapy for retinoblastoma in 70 eyes: outcomes based on the international classification of retinoblastoma.

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OBJECTIVE To analyze our 5-year experience of intra-arterial chemotherapy (IAC) for retinoblastoma as primary or secondary therapy. METHODS Retrospective interventional case series. METHODS A total of 70 eyes of 67 patients. METHODS Ophthalmic artery chemotherapy infusion under fluoroscopic guidance

CB2R induces a protective response for epileptic seizure via the PI3K 110α-AKT signaling pathway.

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Epilepsy is a chronic brain disease caused by abnormal discharging in the brain, which induces momentary brain dysfunction. Cannabinoid 2 receptor (CB2R) is expressed in central nervous system (CNS) and serves an important role in the pathogenesis of CNS diseases. The aim of the present study was to

Geographic variations in Wilson's disease.

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Certain features of Wilson's disease (WD) in Asia have been found to be different from those in other continents. The higher prevalence rate in Japan is presumably due to a higher consanguinity rate. In Chinese there is a tight linkage between WD and two gene loci for esterase D and retinoblastoma

Neonatal neoplasms.

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OBJECTIVE To describe neoplasms diagnosed in children

Phase II trial of ifosfamide in children with malignant solid tumors.

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Ifosfamide was given to 61 patients with malignant solid tumors diagnosed before the age of 21 years. In this phase II study, all patients received 1.6 g/m2/day X 5 iv over 15 minutes followed by mesna at a dose of 400 mg/m2 iv at 15 minutes and 4 and 6 hours after ifosfamide. Responses were

Ifosfamide in pediatric malignant solid tumors.

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Ifosfamide/mesna was given to 97 patients who had malignant solid tumors diagnosed before they were 21 years of age. Patients received 1.6 g/m2 ifosfamide daily x 5, given i.v. over 15 min, followed by 400 mg/m2 i.v. mesna at 15 min and 4 and 6 h after ifosfamide. Responses were noted in patients

Tuberous sclerosis in infancy.

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OBJECTIVE To report two infants with tuberous sclerosis who initially were considered to have retinoblastoma. METHODS An 8-day-old infant was referred with small tumors in the posterior poles of both eyes. A left microphthalmos with ciliochoroidal coloboma was present. Computed tomographic (CT)

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