Neural tube defects: epidemiology.
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Anencephaly↗
Biomedical subjects
R W Leech
Publications and source records attributed to R W Leech.
Selective type II muscle fiber hypertrophy in severe infantile spinal muscular atrophy.
The diagnostic muscle biopsy finding in severe infantile spinal muscular atrophy (Werdnig-Hoffmann disease, SMA type 1) is considered to be large-group atrophy with isolated clusters of hypertrophic type I myofibers. We present a unique case of severe infantile spinal muscular atrophy with selective hypertrophy of type II myofibers. A male infant presented at age 2 months with breathing difficulties and by age 4 months was hypotonic and weak. Electromyography revealed denervation in all extremity muscles, and nerve conduction velocities were normal but with small compound muscle action potentials. Quadriceps muscle biopsy revealed many hypertrophied type II myofibers (myofibers with a mean least diameter of 25.4 microns). In contrast, the largest type I myofibers were 20 microns in least diameter (mean diameter, 14.9 microns), and there was a normal-size population of type II fibers (mean diameter, 15.7 microns). In addition, sheets of atrophic type I and type II fibers averaged 2.0 microns in least diameter. Sural nerve biopsy was normal. Breathing difficulties progressed, with death ensuing at age 5 1/2 months. Autopsy revealed atrophy of ventral spinal roots with normal dorsal roots. There was loss of anterior horn cells, while remnant neurons were reduced in size. No other pathologic changes were identified. This case indicates that in severe infantile spinal muscular atrophy, relative sparing of the motor units with type II myofibers may occur.
Biopsy↗
Spongiform encephalopathies: the physician's responsibility.
The spongiform encephalopathies encompass several diseases affecting humans and animals. In the United States, the most common of these disorders in humans is Creutzfeldt-Jakob disease. The most frequent manifestations include dementia, pyramidal tract signs, and extrapyramidal movement disorder. Several clinically distinct syndromes can be identified. Often the diagnosis is confused with other forms of dementia, and the only definitive method for establishing the diagnosis is autopsy evaluation of brain tissue. Unfortunately, since the recognition of the infectious etiology of Creutzfeldt-Jakob disease, fear has often unreasonably interfered with clinical care and autopsy evaluation of affected patients. In actuality, because of the low and restricted infectivity of the responsible agent, affected individuals present minimal risks to clinical caretakers, and handling of patient specimens is not dangerous if appropriate precautions are taken. These precautions are well established, and physicians and other health care workers should not refuse care of appropriate evaluation (including autopsy) to individuals with suspected Creutzfeldt-Jakob disease.
Aged↗
Neuroimaging findings in Alexander's disease.
We present the findings from magnetic resonance imaging, computed tomographic scan, and single photon emission computed tomography of the brain in a 2-year-old girl with Alexander's disease. Computed tomographic scans showed prominent low-density white matter throughout the cerebral hemispheres. Magnetic resonance imaging showed increased T2 signal from the cerebral white matter but not the cerebellum or brain stem. Single photon emission computed tomography revealed diminished cerebral metabolism, particularly in the frontal regions, as compared with the cerebellum.
Astrocytes↗
Dementia: the importance of clinical evaluation, autopsy confirmation, and research.
Because of the increasingly elderly population, dementia is a major public health problem, currently affecting over 50,000 Oklahomans at an approximate cost of one billion dollars annually. The marked overlap in symptomatology between Alzheimer's disease and other primary central nervous system degenerations makes antemortem diagnosis based on a clinical assessment tentative at best, with error rates of 25% commonly reported. Accurate diagnosis is of vital importance in improving our understanding of these illnesses, evaluating potential therapies, and providing appropriate genetic counseling to family members. Direct neuropathologic examination at autopsy is currently the only reliable method for assuring accurate diagnosis and should be undertaken in all demented patients.
Aged↗
Dementia and Alzheimer's disease: resources in Oklahoma.
Senile dementia and Alzheimer's disease (often considered a single process) rank as the fourth most common cause of death in the United States and outrank in cost to the nation the three leading causes of death combined. Autopsy studies of patients with the clinical diagnosis of dementia have clearly shown that a wide variety of pathological conditions can produce clinically similar symptomatology. In order to address the many possible causes and treatments of these various forms of dementia, the Alzheimer's Association (formerly known as the Alzheimer's Disease and Related Disorders Association), the Oklahoma Autopsy Assistance Network at the Oklahoma Medical Research Foundation, and The Alzheimer's Foundation (also known as the Familial Alzheimer's Disease Research Foundation) have begun a concerted effort to develop a regional network which can aid patients and their relatives in the diagnosis and management of dementia. Awareness of these organizations by all physicians will help in the development and dissemination of the newer and more specific treatments to patients (and their relatives) with Alzheimer's disease and other forms of dementia in Oklahoma.
Alzheimer Disease↗
Placental examination in perinatal asphyxia.
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Asphyxia Neonatorum↗
Modification of the silver impregnation technique of Bielschowsky for use in glycol methacrylate-embedded brain tissue.
The modified Bielschowsky stain has become the standard silver impregnation technique for use in paraffin-embedded tissue sections for identifying abnormalities of neuritic processes in a variety of neurodegenerative disorders such as Alzheimer's disease. Recently, glycol methacrylate embedding has been used increasingly as a substitute for paraffin embedding of tissue, because it results in less tissue distortion during processing and provides greater clarity and resolution of cellular architecture and structural details. We have been able to modify the Bielschowsky stain for use in glycol methacrylate-embedded brain sections. The use of this technique will permit more accurate quantitation of the histopathologic changes in neuritic processes in neurodegenerative diseases.
Acrylates↗
Agnathia, holoprosencephaly, and situs inversus: report of a case.
We present the first documented case of agnathia-holoprosencephaly (an uncommon form of craniofacial anomaly) associated with situs inversus. This case may represent the concordance of multiple field complex anomalies, but the possibility of a major midline malformation (situs inversus) caused by a timed insult (environmental or genetic) which affects multiple structures and occurs concurrently with a major field defect during early embryogenesis cannot be excluded.
Abnormalities, Multiple↗
Massive brain stem necrosis in the human neonate: presentation of three cases with review of the literature.
In neonates suffering hypotensive or asphyxial episodes, the brain stem is particularly vulnerable to selective neuronal necrosis. Typically, the pattern is one of generalized neuronal necrosis within well-defined brain stem cranial nerve nuclei, or random neuronal degeneration within the reticular formation. More recently, isolated cases of severe partial or total cystic necrosis of the brain stem reticular formation have been recorded. The pathogenesis is poorly understood at this time, but may be similar to the less severe (but more often recognized) nuclear or focal neuronal loss. Three infants are presented in which severe necrosis of the brain stem occurred. In each, the clinical setting was one of sudden and abrupt worsening of the patient's cardiovascular status.
Brain Stem↗
Fishman's syndrome (encephalocraniocutaneous lipomatosis): a field defect of ectomesoderm.
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Brain Neoplasms↗
Holoprosencephaly and related midline cerebral anomalies: a review.
We propose a simple pathogenetic mechanism that reduces a bewildering variety of central nervous system malformations to a manageable group sharing defects of midline prosencephalic growth. It is neither new nor innovative, but attempts to summarize many pathologic entities within a concept that accounts for known embryologic events and the sequence and timing of those events. We propose midline prosencephalic dysgenesis as a category of malformations including aprosencephaly, holoprosencephaly, septo-optic dysplasia, and agenesis of the corpus callosum.
Abnormalities, Multiple↗
Optic nerve hypoplasia: one part of a spectrum.
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Abnormalities, Multiple↗
Midline telencephalic dysgenesis: report of three cases.
A series of three complex cerebral malformations is presented. The series was characterized by incomplete development of the commissural and chiasmatic plate of the developing forebrain. Associated anomalies included hypoplasia of the hippocampus, heterotopias, and nonfusion of the cerebellum. Mild facial anomalies were present, as were somatic anomalies of the heart and kidneys. Emphasis is placed on the order and classification of similar cerebral anomalies.
Abnormalities, Multiple↗
Gaucher's disease: a case history with extensive lipid storage in the brain.
Patients with acute infantile or type II neuropathic Gaucher's disease demonstrate neurologic deficits that are seemingly greater than the extent of the central nervous system involvement found at autopsy. Examination of the brain of an affected child shows widespread deposition of lipid in a pattern not recognized heretofore. Based on these observations, the authors hypothesize that widespread deposition of the Gaucher glucocerebroside elicits a mild tissue response, which functionally becomes highly significant.
Brain↗
A note on the use of metal species in microbiological tests involving growth media.
The feasibility of using traditional growth media for biological testing of metal species, for example as potential microbiocides, was investigated. Significant interactions between both of the representative metal species studied, Cu2+ and FeEDTA, and the test media were found. It is recommended that the use of growth media for tests on metal species should be avoided.
Bacteria↗
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.
A 2-month-old boy had progressive generalized weakness, hypotonia, and respiratory insufficiency requiring assisted ventilation. At age 3 1/2 months, he started having seizures and recurrent pulmonary infections; he died at age 7 months. Serum lactate was chronically elevated, but there was no aminoaciduria. Histochemical and ultrastructural studies of muscle biopsies at ages 2 and 3 months showed excessive mitochondria, lipid, and glycogen; a third biopsy at 6 months showed marked increase in perimysial fibrous and fat tissue. Cytochrome c oxidase activity was 7% of normal in the first biopsy and undetectable in the others. Cytochrome spectra of mitochondria isolated from postmortem muscle showed complete lack of cytochrome aa3. Antibodies were obtained against cytochrome c oxidase purified from normal human heart. Immunotitration and enzyme-linked immunosorbent assay (ELISA) showed decreased immunologically reactive enzyme protein in the patient's muscle, but SDS-PAGE electrophoresis of immunoprecipitates of muscle mitochondrial extracts showed the presence of all cytochrome c oxidase subunits. These data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle.
Cytochrome-c Oxidase Deficiency↗
Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings.
Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia. In order to study the inherited DNA-repair defect known to be present in cultured CS cells, a lymphoblastoid line was established from the younger sibling. Tissue culture studies revealed the line to have a hypersensitivity to the lethal effects of 254-nm ultraviolet radiation (UV) equivalent to that of lymphoblastoid lines from CS patients who had either the usual severity or a very mild form of CS. Autopsy of the older sibling at six years of age showed the brain to be severely atrophic, with particularly severe cerebellar atrophy. There was a marked reduction in the number of granule cells in the cerebellum and irregular patchy myelination throughout the brain. Many astrocytes contained either a large, bizarre-shaped nucleus or multiple nuclei. Some Purkinje cells of the cerebellum and pyramidal neurons of the hippocampus were binucleated. It is suggested that the DNA-repair defect of CS causes abnormalities in nuclear DNA replication and cell division which result in cell death and in the observed nuclear abnormalities.
Brain↗