[Apollo 11--success and progress].
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Biomedical subjects
Publications and source records attributed to H Fuchs.
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We have undertaken a phenotypic approach in the mouse to identifying molecules involved in inner ear function by N-ethyl-N-nitrosourea mutagenesis followed by screening for new dominant mutations affecting hearing or balance. The pathology and genetic mapping of the first of these new mutants, tailchaser (Tlc), is described here. Tlc/+ mutants display classic behavioural symptoms of a vestibular dysfunction, including head-shaking and circling. Behavioural testing of ageing mice revealed a gradual deterioration of both hearing and balance function, indicating that the pathology caused by the Tlc mutation is progressive, similar to many dominant nonsyndromic deafnesses in humans. Based on scanning electron microscopy (SEM) studies, Tlc clearly plays a developmental role in the hair cells of the cochlea since the stereocilia bundles fail to form the characteristic V-shape pattern around the time of birth. By young adult stages, Tlc/+ outer hair bundles are grossly disorganised although inner hair bundles appear relatively normal by SEM. Increased compound action potential thresholds revealed that the Tlc/+ cochlear hair cells were not functioning normally in young adults. Similar to inner hair cells, the hair bundles of the vestibular hair cells also do not appear grossly disordered. However, all types of hair cells in the Tlc/+ inner ear eventually degenerate, apparently regardless of the degree of organisation of their hair bundles. We have mapped the Tlc mutation to a 12 cM region of chromosome 2, between D2Mit164 and D2Mit423. Based on the mode of inheritance and map location, Tlc appears to be a novel mouse mutation affecting both hair cell survival and stereocilia bundle development.
Gangliocytomas are rare CNS tumors that occur in children and young adults. We present a case of a cerebellar gangliocytoma with invasion of the cervical spinal cord demonstrated on MR. Radiographic differentiation of gangliocytomas from other ganglion cell tumors--ganglioglioma, dysplastic gangliocytoma of Lhermitte-Duclos, and desmoplastic infantile ganglioglioma--is discussed.
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Because carotid angiography has been shown to have limitations in the detection of intimal disease at the bifurcation, a new method of examination of the extracranial carotid artery has been developed using thin-section dynamic computed tomographic (CT) scanning. Carotid atheroma and thrombi can be imaged directly on these sections. The intimal lesions are uniformly hypodense with respect to the carotid arterial wall. Radiologic-pathologic correlation studies using human carotid arteries in a neck phantom confirm that these hypodense lesions are atheromas or thrombi. There is good correlation between CT cross-sectional images and cross-sectional postmortem artery sections. While a number of new computer-based methods of reformation of the carotid artery have been developed, consecutive thin slices through the carotid bifurcation display the pathologic lesions satisfactorily.
Examination of the extracranial carotid bifurcation by thin-section computed tomographic (CT) scans after bolus, high-volume contrast enhancement allowed detection of more disease than did arteriograms in six of eight consecutive patients with transient ischemic attacks. In four patients this was on the clinical side of the lesion; in two the disease was in the asymptomatic carotid artery. One patient appeared to show a carotid ulcer; the ulcer was detected on CT. However, at surgery and subsequent histology, the surface of the lesion was endothelialized. The carotid CT examination is performed in the scanner "dead time" between unenhanced and enhanced head CT scans using the same contrast material for both studies. The examinations covers 3-3.6 cm of the carotid bifurcation region. Thin-section CT of the extracranial carotid arteries is a noninvasive examination that on preliminary evaluations appears to have sensitivity at least equal to that of carotid angiography in the detection of intimal disease.
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