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Biomedical subjects

V Jay

Publications and source records attributed to V Jay.

At least 127 records · Page 7Linked to original sources
PubMed1991

Puppet-like syndrome of Angelman: a pathologic and neurochemical study.

We present the first pathologic descriptions of the puppet-like syndrome of Angelman based on autopsy studies of a 21-year-old woman. The noteworthy findings were a small brain with mild cerebral atrophy but normal gyral development. There was marked cerebellar atrophy with loss of Purkinje and granule cells and extensive Bergmann's gliosis. Study of dendrite morphology using Golgi impregnations of the visual cortex revealed a prominent decrease in dendritic arborization of layer 3 and layer 5 pyramidal neurons. Quantitative Golgi analysis also revealed a significant decrease in the numbers of dendritic spines in apical layer 3 dendrites and both apical and basal layer 5 dendrites. Neurochemical studies of frozen brain tissue demonstrated markedly reduced gamma-aminobutyric acid content in the cerebellar cortex, as well as elevated glutamate content in the frontal and occipital cortices. Although there are no definite morphologic correlates of many of the clinical signs, the pronounced dendritic pathology and neurochemical abnormalities in cerebral cortex may provide a physiologic basis for mental retardation.

Adult↗
PubMed1990

Dendritic arborization in the human fetus and infant with the trisomy 18 syndrome.

Dendritic arborization patterns of visual cortical neurons in four cases of trisomy 18 syndrome were compared with those in 8 neurologically asymptomatic age-matched controls. The trisomy cases included a 20-week-old fetus, a term infant, a 3-month-old infant, and 6-month-old infant. Quantitative Golgi analysis showed a decrease in the mean total dendritic length of apical dendrites in layer 5 pyramidal neurons in the term infant with trisomy 18. In layer 3, an attenuated dendritic tree was observed in the earlier age groups with increased dendritic extent at 6 months. Although not conclusive, due to the small number of subjects, this preliminary study showed definitive dendritic abnormalities in the trisomy 18 syndrome.

Chromosomes, Human, Pair 18↗
PubMedDate not supplied

Intractable seizure disorder associated with chronic herpes infection. HSV1 detection in tissue by the polymerase chain reaction.

We describe the pathological findings and report the detection of herpes simplex virus 1 (HSV1) in the brain in three patients who presented with intractable seizures. All three patients had a previous history of HSV1 encephalitis and went on to develop a medically refractory seizure disorder necessitating surgical intervention. HSV1 encephalitis was clinically diagnosed and treated at 6 months, 3 years, and 7 months and surgical resection was done at 8.5 years, 6 years, and 3 years, in cases 1, 2 and 3, respectively. Pathological examination revealed chronic encephalitis in all three cases, with microglial nodules, intraparenchymal, perivascular and meningeal lymphocytic infiltrates, and gliosis. While immunohistochemical and ultrastructural studies were negative for viral pathogens, polymerase chain reaction (PCR) analysis revealed HSV1 genome. These cases represent examples of chronic herpes encephalitis and seizure disorder with presence of viral genome in the brain long after the initial episode of treated herpes encephalitis.

Cerebral Cortex↗
PubMedDate not supplied

Unique desmoplastic cerebral tumor in a patient with complex partial seizures.

Primary brain tumors with prominent desmoplasia include the gliofibroma, desmoplastic infantile ganglioglioma (DIG), pleomorphic xanthoastrocytoma (PXA), and desmoplastic cerebral astrocytoma. In the present report, we describe unusual pathological appearances in two successive resections of a left temporal tumor in a patient with complex partial seizures. Both tumors showed focal astroglial and very prominent neuronal differentiation. In the first resection at age 11 years, the tumor showed only focal desmoplastic areas and prominent neuronal differentiation with bizarre atypical giant cells. In the second resection at age 14 years, the morphology was dramatically different. Now the tumor showed marked desmoplasia with tumor cells coexpressing neuronal and glial markers. Electron microscopy showed prominent neuronal differentiation in both resections and presence of basal lamina around tumor cells. Our case represents a unique example of an extraordinary degree of neuronal differentiation in a desmoplastic cerebral tumor. While cellular pleomorphism in a desmoplastic tumor traditionally suggests the diagnosis of PXA, we wish to underscore that many cells exhibiting marked cytologic atypia may in fact be of neuronal rather than of glial origin as in our case.

Adolescent↗
PubMedDate not supplied

Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome.

Two male fetuses (18 and 22 weeks gestation) and a 3-month-old male infant (full sibling of the younger fetus) who were diagnosed with Walker-Warburg syndrome (WWS) on the basis of neuropathologic autopsy findings in brain, eyes, and muscle also had micro-orchia and, microscopically, diffuse gonadoblastoid dysplasia in the testes. Both fetuses also had a miniature left ureter and cystic dysplastic left kidney. Testes from control fetuses of 17-24 weeks gestation with normal karyotype and no central nervous system abnormalities (group A, n = 50), a variety of central nervous system abnormalities (group B, n = 50), or an autosomal aneuploidy syndrome with or without central nervous system abnormalities (group C, n = 30) had no diffuse dysplasia, although a single gonadoblastoid seminiferous tubular profile was present in three controls. Testicular morphology was normal in older fetuses and infants with a wide variety of central nervous system malformations (group D, n = 50). We found no evidence of hypogonadotrophic hypogonadism in the three WWS cases to account for the small penis and incompletely descended testes commonly reported in this condition. We concluded that the apparent specificity of the gonadoblastoid testicular dysplasia to WWS suggests that the gene defect directly affects testicular development.

Abnormalities, Multiple↗
PubMedDate not supplied

Tuberous sclerosis.

Explore the source record for details and available documents.

History, 19th Century↗
PubMedDate not supplied

Infantile myositis presenting in the neonatal period.

Infantile myositis, observed in the neonatal period, is rare and may be confused with congenital muscular dystrophy. The patient presented here showed evidence of a myopathy with in utero onset with intrauterine growth retardation and decreased fetal movements. A muscle biopsy demonstrated characteristic perifascicular atrophy and inflammatory infiltrates. Initial magnetic resonance (MR) examination revealed high signal intensity in several proximal muscle groups. With subsequent corticosteroid treatment, the patient's symptoms, clinical course and MR findings have gradually improved. The diagnosis of infantile myositis should be established as early as possible, since proper treatment can lead to resolution of clinical symptomatology and MR findings.

Anti-Inflammatory Agents↗
PubMedDate not supplied

Focal cortical dysplasia in children with localization-related epilepsy: EEG, MRI, and SPECT findings.

A retrospective analysis was conducted of 9 children with focal cortical dysplasia and localization-related epilepsy who underwent epilepsy surgery. Focal cortical dysplasia includes malformed lesions with extensive abnormalities of neuronal morphology, architecture, and lamination. The patients were examined by EEG and video EEG telemetry, CT, MRI, and SPECT using 99mTc-HmPAO. EEG disclosed interictal localized epileptiform activity in 8 patients and nonepileptiform activity with slow waves in 1. Ictal EEG telemetry demonstrated a predominantly localized seizure onset in 8 patients and MRI demonstrated an abnormal loss of gray and white matter distinction in 6. Decreased regional cerebral blood flow (rCBF) was detected in 4 patients by interictal SPECT, and increased rCBF in the same epileptogenic focus in 2 by postictal SPECT. Pathologic analysis found focal cortical dysplasia in 8 patients. One had extensive focal polymicrogyria, pachygyria, and extensive white matter heterotopias. It is concluded that MRI can detect focal cortical dysplasia, which corresponds to the epileptogenic focus on EEG, and SPECT may help to detect a functional abnormality in the same region.

Adolescent↗
PubMedDate not supplied

Crystalline inclusions in a subependymal giant cell tumor in a patient with tuberous sclerosis.

Unusual crystalline cytoplasmic inclusions were encountered in tumor cells in a subependymal giant cell tumor (SEGT) in a 16-year-old girl with tuberous sclerosis. By electron microscopy, the tumor cells demonstrated typical features previously described in SEGT, including abundant dense bodies, prominent Golgi complexes, abundant mitochondria, rough and smooth endoplasmic reticulum, scattered intermediate filaments and microtubules, glycogen, and rare synaptic contacts as well as primitive intercellular junctions. The dense bodies were bound by a single membrane and were round, ovoid, irregular, or cylindric in appearance with electron-dense homogenous content or fingerprint profiles. Of note was the presence of numerous cytoplasmic rhomboidal or rectangular crystalline inclusions akin to those seen in alveolar soft part sarcoma. These inclusions measured as much as 8 microns in length and had 7-nm periodicities, often with intersecting lamellae. Rarely, the membrane-bound dense bodies showed areas of similar periodicities, indicating that the crystalline inclusions are related to and might originate from the dense bodies. While crystalline inclusions have previously been described in one patient with SEGT (Bender and Yunis, Ultrastruct Pathol 1980; 1:287-299), the inclusions in the present case were a striking feature and add to the spectrum of the ultrastructural pathology of SEGT.

Adolescent↗
PubMedDate not supplied

Filamentous aggregates in a meningioma.

The light microscopic and ultrastructural appearances of unusual filamentous aggregates in a right parietal meningioma in a 14-year-old boy are described. The tumor showed prominent meningothelial as well as fibroblastic components and was graded as an atypical meningioma. By light microscopy, eosinophilic, PAS-positive, granular, irregularly shaped Rosenthal fiber-like structures were widespread within the tumor, in both an intra- and an extracellular location. By immunohistochemical staining, similar location of positivity was obtained for vimentin, laminin, and collagen type IV. The inclusions were nonreactive for keratin, lysozyme, alpha-1-antitrypsin, and ubiquitin. Ultrastructurally, these aggregates were composed of an irregular tangle of filaments with electron dense condensations, sometimes with a lattice pattern. The intracellular aggregates were membrane-bound, and some were found within dilated rough endoplasmic reticulum, while extracellularly, they filled up spaces between adjacent tumor cells. Less prominently, flocculent osmiophilic nonfilamentous material was also seen within the inclusions. These observations suggest that these novel inclusions in a meningioma are composed of intermediate filaments (vimentin) and extracellular matrix proteins, with active synthesis in the rough endoplasmic reticulum and subsequent extrusion from the tumor cells into the extracellular spaces.

Adolescent↗