PubMed Health⌕ Search

Biomedical subjects

J D Fratkin

Publications and source records attributed to J D Fratkin.

At least 37 records · Page 2Linked to original sources
PubMed1995

Developmental changes in cerebellar endothelin-1 receptors in the neurologic mouse lurcher mutant.

In order to elucidate the role of neuromodulator endothelin-1 (ET-1) in cerebellar degeneration we determined ET-1 receptor binding in the control and lurcher mice cerebella at different postnatal (P) ages. The lurcher mutant is a suggested animal model for human cerebellar ataxias. The cerebellar membranes were prepared from 5 to 20 day old lurcher mice and littermate controls. ET-1 receptor binding was determined using radioligand assay and affinity cross-linking. There was a significant decrease in [125I]ET-1 receptor binding with increasing postnatal age in the control and lurcher mice cerebella. Lurcher mice showed a significant increase in [125I]ET-1 receptor binding at P 9 to P 20 as compared with the controls. Whereas, at P5 to P7 no significant change was observed. By autoradiography, ET-1 receptors were localized in tile granule cell layer of 15 day old control and lurcher mice cerebella. Whereas, the lUrcher mice showed an increase in [125I]ET-1 binding in the cerebellum as compared with the littermate controls. The results of the present study suggest that the increase in ET-1 receptor binding as early as P9 (when neuronal loss is minimal) in the lurcher mutant may reflect upregulation of ET-1 receptors in the degenerating neurons. At P 15 to P 20, when about 50% to 75% neurons are lost respectively, these changes may also reflect astrogliosis.

Age Factors↗
PubMed1994

Decreased insulin-like growth factor I-mediated protein tyrosine phosphorylation in human olivopontocerebellar atrophy and lurcher mutant mouse.

We examined insulin-like growth factor I (IGF-I)-dependent phosphorylation and protein tyrosine kinase (PTK) activity in cerebellar cortex of normal humans, patients with olivopontocerebellar atrophy (OPCA) ("C" kindred) and in lurcher mutant mouse, a suggested animal model for OPCA. PTK activity and IGF-I-dependent protein tyrosine phosphorylation was significantly reduced in cerebellar cortex of human OPCA patients as compared to the normal controls. Immunoblot analysis also demonstrated a decrease in cerebellar 80 kDa phosphotyrosine protein in these patients. By autoradiography, IGF-I receptors were localized in the molecular layer of 30-day-old control and lurcher mutant mice cerebella. However, the lurcher mutant mice showed a decrease in [125I]-IGF-I binding in the molecular layer as compared to the littermate controls. The IGF-I receptor autophosphorylation was also markedly reduced in 15-day- and 22-day-old lurcher cerebella. These results suggest that the process of cerebellar degeneration in human OPCA and lurcher mutant mouse may be associated with altered IGF-I receptor binding and protein tyrosine phosphorylation.

Amino Acid Sequence↗
PubMed1989

Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

We report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of Pallister-Hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic manifestations which aid in differential diagnosis. Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia. In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly. Other cases of hypothalamic hamartoma have had associated palate or heart defects or presented with precocious puberty. Of the infants with a hypothalamic hamartoblastoma at autopsy, neuropathologic findings were consistent with a primitive neuroectodermal tumor. Surgical tissue from our sole survivor suggested such tumors might mature, and the tumor has not recurred. Neuroradiologic diagnosis may be difficult but should be attempted in infants with these clinical manifestations; due to the need for prompt initiation of appropriate therapy.

Cleft Lip↗
PubMed1988

Magnetic resonance imaging in the diagnosis and treatment of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum).

Lhermitte-Duclos disease is a rare disorder characterized by a slowly enlarging mass lesion in the cerebellum. The pathophysiology of the disease is poorly understood, but recent reports have suggested that a clinically significant mass may recur many years after total gross removal of the tumor. Computed tomography and angiography have been relatively insensitive in imaging the tumor either at presentation or during the postoperative period. The authors present three patients with histologically proven Lhermitte-Duclos disease who have undergone magnetic resonance imaging (MRI). In the first case, preoperative T1- and T2-weighted images clearly demonstrated the location and extent of the lesion, which was verified at operation. In the other two cases, only postoperative images were obtained. These demonstrated the extent of residual tumor and indicate a high probability of lesion expansion during periods of 4 and 10 years, respectively. We conclude that MRI is an important tool in both the diagnosis and the treatment of patients with Lhermitte-Duclos disease.

Adult↗
PubMed1986

Interstitial hyperthermia and iridium brachytherapy in treatment of malignant glioma. A phase I clinical trial.

An oncolytic effect of hyperthermia in the 42 degrees to 43 degrees C range has been previously demonstrated in cell culture and animal models. To apply this modality clinically, an interstitial microwave antenna array system has been developed for the delivery of controlled hyperthermia to an intracranial tumor volume, and a Phase I clinical trial involving six patients with malignant gliomas was undertaken. The protocol to study technical feasibility and patient tolerance combined interstitial iridium-192 irradiation and interstitial hyperthermia with 60-minute hyperthermia sessions immediately before and after brachytherapy. After-loading catheters suitable for both treatment modalities were implanted using a computerized tomography-assisted technique. Thermometry data confirmed the ability of a microwave antenna system to achieve reliable temperature distributions, and reasonable patient tolerance was documented.

Adult↗
PubMed1986

Continuous intrathecal hydromorphone and clonidine for intractable cancer pain.

The use of hydromorphone and clonidine, delivered intrathecally by an implanted infusion pump, is described in a patient with intractable cancer pain. The patient was a 48-year-old woman with uterine cervical cancer-related pain that was poorly responsive to conventional oral narcotics. Hydromorphone was used because of the patient's history of morphine intolerance. When progressive intrathecal hydromorphone dosages were required, intrathecal clonidine (an alpha 2 adrenergic agonist) was infused concomitantly. Intrathecal hydromorphone and clonidine successfully controlled this patient's pain without the necessity to resort to destructive neurosurgery.

Carcinoma↗
PubMed1984

Hemangioma calcificans. Case report.

A 44-year-old woman presented with intraventricular hemorrhage and a calcified avascular mass lesion in the anterior third ventricle. This lesion proved to be a densely calcified variant of cavernous hemangioma, namely, hemangioma calcificans. Twelve previous cases of this lesion have been reported in the neurosurgical literature. Association with spontaneous intraventricular hemorrhage has not been previously reported. The clinical presentation, radiological appearance, surgical findings, and histopathology of this lesion are discussed and a brief review of the literature is presented.

Adult↗
PubMed1983

Aponeurosis disinsertion in congenital entropion.

Lower lid retractor aponeurosis disinsertion is a well-recognized etiologic factor in many involutional entropion cases, but to our knowledge it has not previously been reported as a cause of congenital entropion. Four congenitally entropic lower eyelids in three patients with no history of birth trauma were all found to have retractor disinsertion during exploratory procedures. All four eyelids were surgically corrected by reinserting the retractors to the inferior tarsal margin. Detailed histologic studies of orbicularis oculi muscle fibers in two cases showed no evidence of fiber hypertrophy. This finding refutes the commonly accepted concept of orbicularis muscle hypertrophy as an etiologic mechanism of congenital entropion.

Child↗
PubMed1978

Disseminated Hodgkin's disease with bilateral orbital involvement.

Hodgkin's disease was diagnosed in a patient by lymph node excision. Orbital infiltration was demonstrated by echography and computerized axial tomography. Subsequent orbital biopsy specimens showed lacrimal gland involvement with definite Reed-Sternberg cells.

Adult↗
PubMed1977

Wilms' tumor metastatic to the orbit.

In a 2 1/2-year-old boy, a proptotic right lower lid developed one year after a primary abdominal mass proved to be Wilms' tumor. An orbital abscess or fungal infection was considered because the child was receiving chemotherapy. However, echography demonstrated a firm orbital mass, delineated its dimensions, and showed destruction of the orbital floor. The biopsy specimen showed metastatic tumor cells. Lile neuroblastoma and certain hematologic and reticuloendothelial malignant neoplasms, Wilms' tumor may secondarily invade the ocular adnexa.

Child, Preschool↗
PubMedDate not supplied

CT-guided stereotactic biopsy of intracranial lesions: correlation between core biopsy and aspiration smear.

Computerized tomography (CT)-guided stereotactic biopsies of intracranial lesions in 29 patients were analyzed, paying particular attention to the correlation between core biopsies and aspiration smears. Seven percent were nondiagnostic due to sampling error. Discrepancies occurred between core biopsies and aspiration smears in 10% of the cases. In two instances of such discrepancies, cytologic findings on the aspiration smear yielded the diagnosis of metastatic tumor. One patient, with herpetic encephalitis, was diagnosed by electron microscopic review of the core biopsy only. One patient died of an intraoperative hemorrhage, a complication of the fine-needle technique.

Biopsy↗
PubMedDate not supplied

Slow virus infections.

Slow viruses produce diseases whose incubation periods range from several months to many years. Because of this long latency period, the lack of inflammation produced by these diseases and the lack of recoverable virus particles, it is only recently that the association has been made between the viruses and the diseases they cause. The detailed study of kuru, a neurologic affliction of a remote tribe of cannibals in New Guinea, was responsible for the synthesis of new and previously gathered information into a unified framework to explain not only kuru but other diseases as well. Since then, animal models, transmission experiments and histologic and biochemical studies have unveiled new links connecting viruses to previously obscure neurologic, neurophthalmic and ophthalmic entities.

Adult↗
PubMedDate not supplied

Linear nevus sebaceous syndrome: megalencephaly and heterotopic gray matter.

A 3-month-old white male with linear nevus sebaceous syndrome (LNSS), facial deformities, brain malformations, and cortical blindness is presented. Facial deformities included left ear hypertrophy and a left-sided hamartomatous neck mass. Magnetic resonance imaging suggested that a central nervous system (CNS) abnormality, involving gray and white matter, should be linked with LNSS. Magnetic resonance imaging was more useful than computed tomography in demonstrating the full spectrum of CNS anomalies, including unilateral lissencephaly, a paucity of white matter, excessive and heterotopic gray matter, apparent left schizencephaly, and unilateral left colpocephaly (dilation of atrium and posterior horn of lateral ventricle). Postmortem examination revealed left hemisphere megalencephaly with a dilated posterior horn of the lateral ventricle. The impressive gray matter heterotopias likely were the source of the patient's seizures and perhaps the ultimate cause of death. Megalencephaly and other deviations of neuronal migration should be considered as a dramatic component of LNSS.

Astrocytes↗
PubMedDate not supplied

Phrenic nerve involvement in Déjérine-Sottas disease: a clinicopathological case study.

We present the clinical and pathological data on a 12-year-old girl with Déjérine-Sottas disease who died suddenly in her sleep following the onset of mild flulike symptoms. The autopsy revealed diffuse and severe axonal loss with prominent onion bulbs in all nerves including the phrenic nerve. Early changes of pneumonia and bronchiolitis were evident in the lungs. To our knowledge, this is the first clinicopathological description of phrenic nerve involvement in Déjérine-Sottas disease.

Axons↗