ABSTRACT
Neurovascular compression of the rostral ventrolateral medulla (RVLM) has been described as a possible cause of refractory essential hypertension. We present the case of a patient affected by episodes of severe paroxysmal hypertension, some episodes associated with vago-glossopharyngeal neuralgia. Classical secondary forms of hypertension were excluded. Imaging revealed a neurovascular conflict between the posterior inferior cerebellar artery (PICA) and the ventrolateral medulla at the level of the root entry zone of the ninth and tenth cranial nerves (CN IX-X REZ). A MVD of a conflict between the PICA and the RVLM and adjacent CN IX-X REZ was performed, resulting in reduction of the frequency and severity of the episodes. Brain MRI should be performed in cases of paroxysmal hypertension. MVD can be considered in selected patients.
Subject(s)
Glossopharyngeal Nerve Diseases , Hypertension , Humans , Medulla Oblongata/diagnostic imaging , Hypertension/complications , Vagus Nerve , PressureABSTRACT
The left eye of a 71-year-old patient who had suffered from choroiditis guttata was removed immediately after death by enucleation. Histopathological studies revealed numerous nodular (hard) drusen, a wide variety of senile alterations of the pigment epithelium and Bruch's membrane, and the presence of multiple corpora arenacea in the subarachnoid space of the optic nerve. A new hypothesis concerning the development of hereditary drusen is advanced, postulating a disturbance of the lysosomal enzyme/inhibitor balance.
Subject(s)
Choroiditis/genetics , Aged , Basement Membrane/pathology , Choroid/pathology , Choroiditis/pathology , Ciliary Body/pathology , Cornea/pathology , Female , Humans , Hyalin/metabolism , Pigment Epithelium of Eye/pathology , Retina/pathologyABSTRACT
A new dominant mutation, low set ears (Lse), in the mouse may be indicative of a mammalian branchial arch syndrome. This developmental anomaly of the external ear is accompanied by eye defects, retarded growth and shortened lifespan. The ear defect can be identified in 13-day embryos. Further studies will determine the effects of the Lse gene on other systems.
Subject(s)
Ear/abnormalities , Mice, Mutant Strains/embryology , Animals , Crosses, Genetic , Ear/anatomy & histology , Ear/embryology , Eye Abnormalities , Female , Male , MiceABSTRACT
The new recessive mutation rib-vertebrae (rv) causes fusions of lower ribs and malformations of vertebrae, which results from disturbed somite arrangement. In addition, duplications of the caudal neural tube and sometimes unilateral suppression of kidney formation can be observed. The new mutation is compared with the six already known mutations in mice with "Wirbel-Rippen-Syndrome" and with a similar syndrome in man. From the various effects of the rv-gene observed, it is suggested that the gene causes abnormal inner and outer surface formation, producing manifold secondary effects.
Subject(s)
Mutation , Ribs/abnormalities , Spine/abnormalities , Animals , Animals, Newborn , Cervical Vertebrae/abnormalities , Crosses, Genetic , Embryo, Mammalian , Female , Genes, Recessive , Genetic Linkage , Gestational Age , Lumbar Vertebrae/abnormalities , Male , Mice , Mice, Inbred C57BL , Mice, Mutant Strains , Notochord/cytology , Pregnancy , Spine/embryologyABSTRACT
Stearic, oleic, linoleic, arachidonic, and docosahexaenoic acids can be detected regularly in the eyes and retinae of mice. During the period of maturation of the outer segments of the rod, the amount of each fatty acid increases, the most striking feature of which is the accumulation of docosahexaenoic acid in the retina, which might reflect the growth of rod outer segments. In rd/rd mice, fatty acid synthesis is reduced and the change characteristic of docosahexaenoic acid is absent. Analysis of the structure of outer segment disc membranes by the freeze fracturing technique, however, shows that the structure of the membrane is probably not affected by the rd gene.
Subject(s)
Fatty Acids/metabolism , Genes, Recessive , Photoreceptor Cells/growth & development , Retina/metabolism , Retinal Degeneration/genetics , Rod Cell Outer Segment/growth & development , Animals , Arachidonic Acids/metabolism , Freeze Fracturing , Linoleic Acids/metabolism , Mice , Mice, Inbred C57BL , Mice, Inbred CBA , Microscopy, Electron, Scanning , Oleic Acids/metabolism , Retinal Degeneration/metabolism , Retinal Degeneration/pathology , Rod Cell Outer Segment/metabolism , Rod Cell Outer Segment/ultrastructure , Stearic Acids/metabolismABSTRACT
A semidominant mutation in the laboratory mouse, Coloboma (Cm), is described. Coloboma is located on Chromosome 2, as is the similar mutation Dickie's small eye (Dey). Coloboma has a moderately reduced expressivity. The anterior chamber is usually present in Cm/+. Both Cm and Dey show delayed detachment of the lens vesicle and microphthalmia, and homozygotes of both apparently die early in pregnancy.
Subject(s)
Coloboma/genetics , Mice, Mutant Strains , Animals , Coloboma/pathology , Crosses, Genetic , Heterozygote , Homozygote , Lens, Crystalline/abnormalities , Mice , Microphthalmos/complicationsABSTRACT
Mice heterozygous for Dickie's small eye (Dey) are small and have malformed eyes (Theiler et al. 1978). The development of homozygous Dey/Dey was more difficult to analyze than heterozygous Dey/+. This investigation to identify the homozygotes and to distinguish them from Dey/+ and +/+ resorptions. Such a distinction was possible only when enough specimens were available. The mutants are poor breeders and the collection of the necessary material has taken several years.
Subject(s)
Eye Abnormalities , Mice, Mutant Strains , Animals , Embryo, Mammalian , Genes, Lethal , Heterozygote , Homozygote , Mice , Time FactorsABSTRACT
A new semidominant mutation in the house mouse, velvet coat (Ve), is described. Ve homozygotes, recognizable on day 5 of gestation by their deficiency of ectodermal cells, never produce mesoderm and are resorbed by days 9-10. Primary Ve action may occur during the formation of the blastocyst or during determination and differentiation of the inner cell mass, or both. Accordingly, Ve/Ve embryos may provide a useful model for investigating primary gene action during blastocyst formation and subsequent differentiation.
Subject(s)
Genes, Lethal , Mice/genetics , Animals , Blastocyst , Embryo Loss , Female , Homozygote , Mesoderm , Pregnancy , Time FactorsABSTRACT
A new semidominant mutation in the laboratory mouse, Dickie's small eye (Dey), is described. It is localized on chromosome 2. Heterozygotes show reduced body size, small eyes with coloboma, small or lacking lens with cataract, abnormal folding of the retina and reduction of the pigment layer. The anterior chamber is usually missing. Homozygotes apparently die early in pregnancy.
Subject(s)
Eye Abnormalities/genetics , Mice, Mutant Strains , Animals , Cataract/genetics , Coloboma/genetics , Heterozygote , Homozygote , Mice , Retina/abnormalitiesABSTRACT
The inheritance and some developmental effects of a new allele of ocular retardation (orJ) are described. Affected animals or 12 days of gestation, show reduced cell death in the eye cup and thickening of the inner wall of the optic fissure. At 11 to 13 dyas of gestation orJ/orJ eyes grafted to the testis do not produce retina as their orJ+ littermates do. Adult animals have small eyes with closed lids, abnormal retinal layers, and no optic nerve.
Subject(s)
Eye Abnormalities , Alleles , Animals , Mice , Mice, Inbred Strains , Microscopy, Electron , Optic Nerve/abnormalities , Retina/abnormalities , Retina/pathologyABSTRACT
The occurrence of aplasia and hypoplasia of the optic nerve in man and in mammals is described. A secondary aplasia may result from additional malformations of the central nervous system. Primary aplasia may be studied in mutants of the house mouse, which show that not only the blood vessels, but also changes in time and location of the physiologic cell necrosis may be important.
Subject(s)
Optic Nerve/abnormalities , Abnormalities, Drug-Induced , Animals , Cell Survival , Humans , Mice , Mutation , Optic Nerve/embryologySubject(s)
Cell Survival , Eye/embryology , Retina/embryology , Animals , Haplorhini , MorphogenesisABSTRACT
A new skeletal mutant in the house mouse, "malformed vertebrae" (MV), is described. It is semidominant. The skeletal malformations can be traced back to disturbed somite formation.
