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V Jay

Publications and source records attributed to V Jay.

At least 91 records · Page 5Linked to original sources
PubMed1996

Enhanced expression of microtubule-associated protein 2 in large neurons of cortical dysplasia.

To evaluate neuronal cytoarchitectural changes in cortical dysplasia, we examined microtubule-associated protein 2 (MAP2) expression in surgically resected specimens obtained from 20 patients (age range, 3 months to 10 years) treated for intractable epilepsy. Large neurons were investigated in the specimens from all patients and showed significantly strong immunoreactivity with antibodies against MAP2 in the perikaryon and proximal portion of their processes. In situ hybridization with MAP2 antitense riboprobe showed increased hybridization signal intensities in the large neurons, which correlated with the pattern of immunoreactivity for MAP2. We conclude that MAP2 is strongly expressed in the large neurons in cortical dysplasia. The results of preliminary immunoblotting in 1 patient with focal cortical dysplasia showed that the low-molecular-weight form of MAP2 (MAP2c) was strongly expressed in the dysplastic cortex, suggesting that MAP2c may be a major component contributing to the increased expression of MAP2 in the large neurons of cortical dysplasia. Since it has been suggested that MAP2 plays a crucial role in the branching and remodeling of neuronal processes, increased expression of MAP2 may reflect activated plasticity of the large neurons in cortical dysplasia.

Base Sequence↗
PubMed1996

Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case.

We report a case of Farber lipogranulomatosis in a girl with hepatosplenomegaly, macular cherry-red spot, and subcutaneous nodules who developed liver dysfunction with jaundice and ascites, and myelophthisic anaemia because of infiltration of bone marrow with storage cells. Acid ceramidase assay confirmed the diagnosis. We conclude that the bone marrow dysfunction and cherry-red spot are features of type IV Farber lipogranulomatosis that have not been previously recognized, and should be added to the clinical phenotypic description.

Acid Ceramidase↗
PubMed1996

Time course of radiation-induced apoptosis in the adult rat spinal cord.

Radiation-induced apoptosis has been reported in thymic, lymphoid, haematopoietic cells and intestinal epithelium but is infrequently documented in other adult mammalian cell types. In this study, we examined the time course of radiation-induced apoptosis in the adult cervical rat spinal cord following a single dose of 8 or 22 Gy. Apoptosis was assessed by morphological criteria under light and electron microscopy, and immunohistochemically in-situ using Apoptag to detect 3' -OH ends of DNA fragments. Little evidence of apoptosis (0.3 +/- 0.1 apoptotic nuclei per spinal cord section) was observed in control un-irradiated spinal cord. A significant increase in the number of apoptotic cells per spinal cord section was seen at 4 h after 8 (13.6 +/- 1.3) or 22 Gy (22.0 +/- 2.7). The number of apoptotic nuclei reached a peak at 8 h (44.7 +/- 3.7 after 8 Gy, 49.5 +/- 4.3 after 22 Gy), and returned to the baseline level by 24 h (2.4 +/- 0.7 after 8 Gy, 3.3 +/- 0.7 after 22 Gy). A dose of 22 Gy induced significantly more apoptoses than 8 Gy at 4, 6, 10 and 12 h (P < or = 0.033), but not at 8 h. More apoptotic nuclei were observed in white matter (64-92%) than gray matter (8-36%). All the apoptotic cells were observed in glial cells, and there was no evidence of radiation-induced apoptosis in the vascular endothelial cells or neurons. The morphological features of the apoptotic cells under electron microscopy and the absence of GFAP staining suggested that they were oligodendrocytes. We conclude that radiation induces apoptosis in the adult rat spinal cord, and that the development of apoptosis follows a specific time course.

Animals↗
PubMed1996

Infantile spasms: cerebral blood flow abnormalities correlate with EEG, neuroimaging, and pathologic findings.

This ongoing study examines abnormalities of cerebral perfusion in a consecutive series of children with infantile spasms and correlates cerebral blood flow (CBF) abnormalities with electroencephalographic (EEG), neuroimaging, and pathologic findings. A consecutive series of children with infantile spasms, diagnosed by standard clinical and EEG criteria, had cerebral perfusion studies using 99Tc-HmPAO single photon emission computed tomography (SPECT), together with neuroimaging studies using computed tomography (CT) and/or magnetic resonance imaging (MRI), interpreted independently and correlated with surgical pathologic findings. Twenty children aged 2-13 months (mean 9.3 months) were studied over a 4-year period; 60% had symptomatic infantile spasms due to cerebral dysgenesis (33%), other congenital lesions (25%), tuberous sclerosis (17%), or other causes (25%), and the remaining patients were cryptogenic (40%). CBF abnormalities were present in 85%: multifocal decrease (40%), focal increase (25%), diffuse decrease (15%), and focal increase (10%), while the remaining 15% had normal cerebral blood flow. Focal cortical lesions may lead to infantile spasms, even in cryptogenic patients diagnosed by functional neuroimaging such as 99Tc-HmPAO SPECT. In selected patients, surgical excision of the cortical lesions leads to improved seizure control and possibly outcome. The localization and surgical excision of focal cortical lesions in infantile spasms required further investigation with functional and structural neuroimaging, EEG, and intraoperative electrocorticography.

Brain↗
PubMed1996

Brain and eye pathology in an infant with Down syndrome and tuberous sclerosis.

The association of tuberous sclerosis with Down syndrome is exceedingly rare. An infant with this unusual association is reported with a description of brain and ocular abnormalities which were referable to both conditions. There was anteroposterior foreshortening of the brain and Brushfield spots in the iris, which are described in Down syndrome. The infant, who suffered from a seizure disorder, manifested multiple tubers and subependymal candle gutterings in the brain as well as bilateral retinal astrocytic hamartomas.

Brain↗
PubMed1996

p53 expression in uveal malignant melanomas.

Mutation of the p53 gene which is located on chromosome 17p is the single most frequent alteration observed in human cancer. In this study we evaluate malignant melanoma, the most common intraocular neoplasm in adults, for aberrant p53 expression. Twenty enucleation specimens representing one ciliary body and 17 choroidal melanomas and two choroidal nevi were studied by immunohistochemistry utilizing the D07 anti-p53 antibody and the MIB-1 monoclonal antibody. The tumors included two spindle cell and 16 mixed cell (spindle + epithelioid cell) melanomas and two spindle cell nevi. The MIB-1 labelling index ranged from < 1% (two cases), 1-5% (13 cases) and > 5% (five cases). Of the 18 melanomas, 13 cases showed nuclear p53 staining with the p53 index < 1% (two cases), 1-3% (eight cases) and 4-5% (three cases). No p53 staining was observed in two malignant melanomas of the spindle cell type and in two choroidal nevi. In the 13 malignant melanomas of the mixed cell type, there was no correlation between MIB-1 index and p53 immunoreactivity. Immunopositivity was not found in normal choroidal melanocytes. Our study suggests that p53 alterations may be found in uveal melanomas; in our series, p53 positivity was present only in malignant melanomas of the mixed cell type.

Adult↗
PubMed1996

P53 expression in choroid plexus neoplasms: an immunohistochemical study.

OBJECTIVE: To evaluate choroid plexus neoplasms for p53 expression. CASE MATERIAL: We studied 10 choroid plexus tumors (four papillomas and six carcinomas) by immunohistochemistry using the DO7 anti-p53 monoclonal antibody. RESULTS: Three of four choroid plexus papillomas demonstrated no staining. Scattered nuclear and rare cytoplasmic positivity was present in one papilloma, which showed foci of increased mitotic activity (labeling index 2.5%). Six of six carcinomas were immunoreactive for p53, and three cases had labeling indexes of over 70%. All immunopositive choroid plexus tumors (7/7) exhibited nuclear staining. Punctate cytoplasmic positivity was identified in 5 of 7 cases. CONCLUSION: Our study suggests that altered p53 expression is detectable by immunohistochemistry in choroid plexus neoplasms and is consistently present in choroid plexus carcinomas.

Adolescent↗
PubMed1996

Expression of p53 in conjunctival melanocytic nevi. An immunohistochemical study.

The objective of this study was to evaluate conjunctival nevi for p53 gene mutations. We studied 11 conjunctival nevi by immunohistochemistry with the DO7 monoclonal p53 antibody as well as the cell proliferation marker, MIB1. Of the 11 cases, 2 were negative, 2 had less than 1%, and 7 had more than 2% p53 immunopositive nuclei with no direct correlation with MIB1 positivity. Our results suggest altered expression of p53 in conjunctival nevi.

Antibodies, Monoclonal↗
PubMed1996

Expression of bcl-2 in uveal malignant melanoma.

OBJECTIVE: To evaluate the expression of the bcl-2 proto-oncogene in uveal malignant melanomas. CASE MATERIAL: We studied 20 uveal malignant melanomas (19 choroidal and 1 ciliary body) by immunohistochemistry with the bcl-2 oncoprotein monoclonal antibody and the cell proliferation marker, MIB-1. RESULTS: Expression of bcl-2 was found in 100% of cases and was not correlated with the histologic subtype of melanoma or the MIB-1 proliferative index. Normal choroidal melanocytes were negative for bcl-2. CONCLUSION: Our results suggest that altered expression of bcl-2 is common in uveal melanomas and is not related to histologic grade.

Adult↗
PubMed1996

Abnormal ocular enhancement in Sturge-Weber syndrome: correlation of ocular MR and CT findings with clinical and intracranial imaging findings.

PURPOSE: To estimate the prevalence of abnormal ocular enhancement in children with Sturge-Weber syndrome as detected with MR imaging and CT and to correlate this with the clinical, fundoscopic, and intracranial imaging findings. METHODS: Fifteen children, 4 years old or younger, with Sturge-Weber syndrome were examined with enhanced CT and MR imaging. Eleven children had unilateral intracranial involvement and 4 had bilateral involvement, for a total of 19 abnormal hemispheres and related orbits. The presence of ocular enhancement was compared with the fundoscopic findings independently. Ocular enhancement was correlated with the extent of leptomeningeal disease, the severity of the cutaneous lesion, and the presence of glaucoma by the calculation of likelihood ratios and 95% confidence limits. RESULTS: Seven of the 15 patients had abnormal ocular enhancement, which was present in 10 (53%) of the eyes associated with the 19 abnormal hemispheres. MR imaging showed choroidal hemangioma in 7 of 8 patients in whom hemangiomas were shown at fundoscopy. The likelihood of ocular enhancement was increased with the presence of bilateral disease, extensive facial nevi, and glaucoma; there was no significant correlation with the extent of hemispheric involvement. CONCLUSION: Both enhanced MR imaging and CT can show diffuse choroidal hemangioma in patients with Sturge-Weber syndrome. However, MR imaging is more sensitive and is recommended to aid in the detection of abnormalities with preventable late complications.

Brain↗
PubMed1995

Arthrogryposis multiplex congenita due to congenital myasthenic syndrome.

Two children, now 5 1/2 and 6 years of age, presented as neonates with hypotonia, multiple joint contractures, ptosis, extraocular weakness, bulbar symptoms, and respiratory distress. Fluctuations and episodic exacerbations of weakness necessitated respiratory support. Both children are developmentally delayed and cannot walk independently, although one child underwent bilateral tenotomies. Biochemical investigations and electromyography, including slow-rate, repetitive nerve stimulation, were normal. Acetylcholine receptor antibodies in serum were absent. Single-fiber electromyography with axonal stimulation revealed prolonged mean jitter in the tibialis anterior and extensor digitorum muscles, with more than 2 abnormal individual jitter values in each muscle. Muscle biopsy demonstrated normal pattern and morphology of muscle fibers; immunohistochemical staining for cholinesterase was positive. Electron microscopy revealed abnormalities in motor endplates: atrophy, flattening of primary synaptic clefts, and paucity of side branches. These findings represent one of the postsynaptic abnormalities (i.e., acetylcholine receptor deficiency or paucity of synaptic folds). Both children improved clinically on pyridostigmine therapy. Arthrogryposis congenital multiplex due to congenital myasthenic syndrome, as diagnosed in our patients, has been reported once before. The diagnosis can be established by clinical history, neurologic examination, and electrophysiologic and pathologic findings. Clinical improvement can be achieved with high-dose anticholinesterase therapy.

Arthrogryposis↗
PubMed1995

Surgical pathology of epilepsy resections in childhood.

In this review, we discuss the important pathological lesions observed in temporal lobectomies and neocortical resections performed for medically refractory seizures in children. A higher percentage of pediatric cases appear to be "lesional" with computed tomography (CT) and magnetic resonance imaging (MRI) and abnormalities and "dual pathology" lesions appear to be more common than pure mesial temporal sclerosis. Almost a third of cases appear to be neuronal migration disorders and low-grade gliomas with some lesions harboring both neoplastic and malformative components. Our experience suggests a role for cytomegalovirus in some cases of Rasmussen's encephalitis.

Brain Injuries↗
PubMed1995

Chronic encephalitis and epilepsy (Rasmussen's encephalitis): detection of cytomegalovirus and herpes simplex virus 1 by the polymerase chain reaction and in situ hybridization.

We made a pathologic diagnosis of chronic encephalitis on surgical resections or autopsy material in 10 patients with intractable seizures and studied the specimens by immunohistochemistry for herpes simplex virus (HSV) 1 and 2 and cytomegalovirus (CMV) as well as by the polymerase chain reaction (PCR) for viral DNA sequences (HSV1, HSV2, and CMV). We also assessed eight patients (nonepileptic) with pathologically documented or clinically suspected encephalitis and five resections from epileptics without encephalitis. Immunohistochemistry for viral antigens was negative in all cases. Using PCR assay, CMV was present in six and HSV1 in two of 10 epilepsy patients with chronic encephalitis. We demonstrated CMV by in situ hybridization in two of the six patients positive for CMV by PCR. We found no viral sequences by PCR in five epileptics without encephalitis. Of the eight patients (nonepileptic) with clinically suspected or pathologically confirmed encephalitis, two cases showed CMV sequences by PCR. These observations suggest that PCR allows detection of viral sequences in some cases of chronic encephalitis associated with epilepsy that may be missed by in situ hybridization.

Adolescent↗
PubMed1995

Primitive neuroectodermal tumors of the cerebrum and cerebellum: absence of t(11;22) translocation by RT-PCR analysis.

Cytogenetic analysis of peripheral primitive neuroectodermal tumors (PNETs) has demonstrated a consistent primary chromosomal change characterized by a reciprocal translocation t(11;22)(q24:q12). In the central nervous system PNETs, most frequent of which are the cerebellar medulloblastomas, the most prevalent chromosomal abnormalities include deletions and unbalanced translocations. The recent cloning of the t(11;22) breakpoint has revealed the fusion of the human FLI-1 gene on chromosome 11q24 with a gene EWS on chromosome 22q12 and permitted detection of fusion transcripts. Molecular genetic analysis for the presence of EWS/FLI-1 fusion transcripts by the reverse transcriptase-polymerase chain reaction has recently been applied to peripheral PNETs. In the present study, we analyzed eight central PNETs by reverse transcriptase-polymerase chain reaction for EWS/FLI-1 fusion transcripts. The tumors included six PNETs of the cerebellum, one supratentorial PNET of the frontal lobe and one PNET of the pineal region. Polymerase chain reaction analysis in all eight cases failed to reveal a t(11;22) translocation indicating that this is not a cytogenetic abnormality of the central PNETs. Reverse transcriptase-polymerase chain reaction analysis of EWS/FLI-1 fusion transcripts provides a novel adjunctive tool in the differentiation of central versus peripheral PNET.

Adolescent↗
PubMed1994

Malignant transformation in a ganglioglioma with anaplastic neuronal and astrocytic components. Report of a case with flow cytometric and cytogenetic analysis.

BACKGROUND: Malignant transformation of a ganglioglioma is rare and is generally restricted to the glial component. The authors described a unique case in which neuronal and glial elements exhibited anaplasia in a ganglioglioma. A subtotal resection of a large left temporal tumor extending into the diencephalon and brain stem in a 10-year-old boy revealed a ganglioglioma with no atypical features. The histologic findings were unchanged at further resections 4 and 12 months later. Radiotherapy was instituted with 5500 cGy in 30 fractions 21 months after initial resection. The patient returned 3 years later with a massive midline tumor recurrence. METHODS: The tumor was studied by conventional histologic methods, immunohistochemistry, flow cytometric methods, transmission electron microscopy, immune electron microscopy, and cytogenetic analysis. RESULTS: Although the first three resections revealed a typical ganglioglioma, the fourth resection revealed a cellular pleomorphic tumor with many multinucleated cells and mitoses. The tumor cells expressed glial fibrillary acid protein (GFAP) and synaptophysin on double labeling. By electron microscopy, intermediate filaments, microtubules and abundant rough endoplasmic reticulum, and neurosecretory granules were seen. Immune electron microscopy showed GFAP and synaptophysin within tumor cells. Flow cytometric studies revealed G0G1, 78%; S-phase, 9%; and G2M, 13%. Tumor cytogenetics on short term cultures revealed a complex abnormal karyotype with three sublines containing several structural chromosomal abnormalities. CONCLUSIONS: A unique anaplastic transformation of a ganglioglioma is reported with the anaplastic cells exhibiting neuronal and astrocytic features.

Anaplasia↗
PubMed1994

Barth syndrome: clinical observations and genetic linkage studies.

Barth syndrome is an X-linked recessive condition characterized by skeletal myopathy, cardiomyopathy, proportionate short stature, and recurrent neutropenia, but with normal cognitive function. Some, but not all patients, exhibit carnitine deficiency and/or the presence of 3-methylglutaconic and ethylhydracylic acids in urine. Recently the mutation causing Barth syndrome was localised to the Xq28 region by linkage analysis. We report 6 cases of Barth syndrome from 4 families and highlight the fact that neuromuscular and cardiovascular symptoms and the severity of infections tend to improve with age, while short stature persists. Also previously unreported was myopathic facies and nasal quality to speech in our cases. The urinary organic acid abnormalities and plasma carnitine deficiency were inconsistent findings. We propose that they may be epiphenomena rather than indicators of the primary metabolic defect, and that the primary defect or defects in this disorder may lie in the mitochondrial electron transport chain.

Abnormalities, Multiple↗