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Biomedical subjects

G S Pearl

Publications and source records attributed to G S Pearl.

At least 19 recordsLinked to original sources
PubMed2001

Proximal myotonic myopathy: clinical, neuropathologic, and molecular genetic features.

The primary genetic abnormality in myotonic dystrophy (DM) is an expansion of the CTG trinucleotide repeat on chromosome 19q. Recently, patients with similar clinical features, but without this genetic alteration, have been designated as proximal myotonic myopathy (PROMM). We describe two additional cases of PROMM, both of whom presented with clinical features suggestive of myotonic dystrophy. The patients had electromyographic (EMG) evidence of myotonia, normal cardiac evaluation, and no cataracts. Genetic analysis of peripheral blood leukocytes revealed no expansion of the trinucleotide repeat by polymerase chain reaction (PCR) and Southern blot analysis. Muscle biopsies in both cases were significant with features suggestive of myotonic dystrophy, such as large numbers of fibers containing multiple internal nuclei, occasional nuclear chains, and fiber atrophy, although sarcoplasmic masses and ring fibers were absent. These cases illustrate the clinical and neuropathologic findings of PROMM and underline the importance of correlating these aspects with genetic studies in patients with myotonic muscle disorders.

Adult↗
PubMed2000

Lipofibromatous hamartoma and related peripheral nerve lesions.

Three unusual cases of a rare, tumor-like condition, lipofibromatous hamartoma, are reported. This lesion is composed of fibrous and fatty tissue that infiltrates peripheral nerves, typically on the volar aspect of the upper extremities of children and young adults. All three patients had a painless soft tissue mass of the wrist and/or hand, which followed nerve distribution, and only one patient had neurologic symptoms due to compression. Diagnosis was made by open biopsy and histologic examination.

Adolescent↗
PubMed1998

Traumatic neuropathology.

The neuropathology of trauma is reviewed based on the mechanism of injury. Pathology is divided into primary and secondary injury, based on the relationship to the time of injury. It is further divided by mechanism, with primary impact injury including skull fracture, epidural hematoma, brain contusion and laceration, and intracerebral hemorrhage; primary inertial injury including subdural hematoma, diffuse axonal injury, and diffuse vascular injury; and secondary injury including hypoxia/ischemia, brain swelling, infection, and increased intracranial pressure. The neuropathology of child abuse is also reviewed.

Axons↗
PubMed1998

Adrenoleukodystrophy: unusual clinical and radiographic manifestation.

Adrenoleukodystrophy is an X-linked recessive peroxisomal disorder, characterized by progressive neurologic deterioration due to cerebral white matter demyelination and adrenal insufficiency. Onset is usually in childhood between ages 5 and 10, and its course is fatal within approximately 5 years. Initial symptoms are behavioral, gait, and auditory disturbances and may be a diagnostic dilemma. Abnormally raised plasma very long chain fatty acids (VLCFA) are diagnostic; computed tomography and magnetic resonance imaging findings show symmetrical occipital white matter lesions which progress in a rostralcaudal direction.

Adolescent↗
PubMed1997

Diagnosis of Alzheimer's disease in a community hospital-based brain bank program.

Several studies in recent years have addressed the accuracy of the clinical diagnosis of Alzheimer's disease (AD). However, most large studies have been done in university centers specializing in dementia. The purpose of this study was to assess the diagnostic accuracy of dementia in a community-based brain bank program, using data from the Central Florida component of the State of Florida's Brain Bank Program. Since 1987, 261 cases of dementia have been assessed at antopsy, and the clinical and pathologic diagnoses were compared. Of 234 patients with a clinical diagnosis of AD, 181 (77%) had a pathologic diagnosis of AD, with or without other contributing disorders. Of 27 patients with a clinical diagnosis of non-AD dementia, 14 (52%) had a pathologic diagnosis of AD, with or without other contributing diagnoses. These findings are similar to those previously reported and emphasize the importance of autopsy for the accurate diagnosis of dementia for genetic counseling, assessment of diagnostic techniques or drug therapy, and epidemiologic studies.

Alzheimer Disease↗
PubMed1997

Fatal rhino-orbital-cerebral zygomycosis.

Rhinocerebral zygomycosis is usually an aggressive, fulminant and, at times, fatal disease most often affecting poorly controlled diabetics of all ages. We report the case of a 13-month-old white boy, a previously undiagnosed diabetic. He came to our hospital with recurrent epistaxis, decreasing consciousness, and a small visible infection at the inner canthus of the left eye. Initial evaluation revealed that the patient was in diabetic ketoacidosis. Despite aggressive medical and surgical treatment, his condition deteriorated rapidly, including the development of diabetes insipidus, and he died 4 days after admission. At autopsy, he was found to have fungal cerebritis (Rhizopus) with multiple areas of infarction and massive cerebral edema.

Brain Abscess↗
PubMed1996

Continuous quality improvement (CQI) in neuropathology.

Continuous quality improvement activities are mandated by the Joint Commission on Accreditation of Healthcare Organizations and the College of American Pathologists. In a recent Needs Assessment Survey of neuropathologists undertaken by the College of American Pathologists, in cooperation with the American Association of Neuropathologists, neuropathologists indicated the need for information regarding continuous quality improvement for neuropathology laboratories. This article suggests activities that may be incorporated in a continuous quality improvement program, including suggested monitors in surgical and autopsy neuropathology, as well as an example of a continuous quality improvement plan.

Autopsy↗
PubMed1995

Muscle biopsy.

OBJECTIVE: To provide practical guidelines for handling muscle biopsies to be submitted for outside processing and consultation. DESIGN: Review each step of handling a muscle biopsy and provide alternative means of tissue processing when feasible. RESULTS: Practical guidelines are presented for specimen selection, performance of needle biopsy, preparation of tissue for electron microscopy, preparation of tissue for shipping, clinical information to be provided, and submission of tissue for molecular and biochemical studies. CONCLUSIONS: Muscle biopsy samples to be sent to referral centers can be properly handled to avoid the problems noted by the Neuropathology Needs Assessment of the College of American Pathologists.

Biopsy↗
PubMed1989

Creutzfeldt-Jakob disease: high caudate signal on magnetic resonance imaging.

We have presented an unusual case of CJD in which the magnetic resonance images obtained four months before death revealed high signal intensity in the caudate nuclei bilaterally. These findings correspond to severe involvement of this region at autopsy. This radiologic pattern has not generally been included in the differential diagnosis of CJD.

Aged↗
PubMed1986

CT evaluation of effects of cranial radiation therapy in children.

A retrospective evaluation was completed of 49 children who received conventional cranial radiation therapy for primary central nervous system and/or skull-base neoplasia and who had follow-up CT studies. In these children, abnormalities in normal parenchyma away from the tumor itself were surprisingly frequent, with or without chemotherapy. Generalized volume loss or atrophy was the most frequent abnormality (51%), but in this population it may have resulted from a variety of causes. Calcification in nontumorous parenchyma was common (28%) with or without chemotherapy. The most frequent site of calcification was subcortical at the gray-white junction. Calcification was progressive over 1-2 years and correlated pathologically with mineralizing microangiopathy and dystrophic calcification with demyelination. White-matter abnormalities other than those associated with shunt malfunction and tumor edema occurred in 26% of the patients. Both white-matter abnormalities and calcification occurred predominantly in younger children, particularly those under 3 years old at the time of radiation therapy. Of the 21 children who received chemotherapy in this series, only two received methotrexate. White-matter abnormalities and calcifications occurred with similar frequency in children with and without chemotherapy; thus, radiation therapy is the most likely cause of these findings.

Adolescent↗
PubMed1985

Alpha 1-antitrypsin in cerebrospinal fluid of patients with neurologic diseases.

Proteases and their inhibitors have been implicated in the pathogenesis of neuroimmunologic diseases, particularly multiple sclerosis (MS). We measured the immunochemical level and functional activity of alpha 1-antitrypsin (AAT) in cerebrospinal fluid (CSF) and serum in patients with MS and other neurologic diseases. Increases in the immunochemical level of AAT in CSF correlated directly with disturbances in the blood-brain barrier, as reflected by the ratio of albumin in CSF to that in serum. The AAT activity in CSF directly correlated with the immunochemical level when all patients were compared. However, the AAT activity in patients with inflammatory diseases tended to be decreased relative to the immunochemical level, suggesting inactivation of AAT in these disorders. The AAT activity was not significantly altered in patients with MS, despite reports of increased protease activity in active MS.

Blood-Brain Barrier↗
PubMed1985

Isotretinoin teratogenicity. Case report with neuropathologic findings.

Isotretinoin, a drug used for the treatment of acne, has been shown to have teratogenic effects. We report an additional case of isotretinoin teratogenicity in which the patient had agenesis of the cerebellar vermis, multiple leptomeningeal neuroglial heterotopias, hydrocephalus, and abnormalities of the corticospinal tracts. These findings are related to those reported previously.

Abnormalities, Drug-Induced↗
PubMed1985

Primary lymphoma of the central nervous system diagnosed by computed tomographic scan-directed needle biopsy with a frozen section immunoperoxidase technique.

Primary lymphoma of the central nervous system is an uncommon neoplasm that requires definitive diagnosis because it is potentially treatable. We report a case in which the diagnosis of lymphoma was unsuspected and was made by needle biopsy with computed tomographic scan direction. A frozen section immunoperoxidase technique demonstrated monoclonality. When combined with a compatible morphological appearance, this confirmed the diagnosis of lymphoma. This case demonstrates the importance of this immunochemical method in the rapid diagnosis of central nervous system lymphomas.

Adult↗