Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report.

The oral-facial-digital syndromes (OFDS) are a heterogeneous group. Recently, Gurrieri et al. [1992: Am J Med Genet 42:789-792] described a new OFDS characterised by typical oral, facial and digital abnormalities but distinguishable from previously reported OFDS by the presence of retinochoroidal lacunae of an apparently colobomatous origin. Toriello [1993: Clin Dysmorph 2:95-105] designated this possible new OFDS as Type IX. We describe a young woman presenting with oral, facial and digital anomalies and with the specific retinal abnormality reported by Gurrieri et al. [1992], thus confirming the existence of OFDS Type IX. As the patients of Gurrieri et al. [1992] were two affected brothers, they were unable to distinguish between autosomal and X-linked recessive inheritance. As our patient is an affected female, an autosomal recessive mode of inheritance is more likely.

Behavioural abnormalities in Toxoplasma-infected mice.

Observational methods, using video recordings and computer-assisted data analysis, were used to investigete the behaviour of Toxoplasma-infected mice. Infection had a selective effect, increasing the amount of general movement but decreasing the amounts of rearing and digging. In addition infection affected the pattern of bouts of behaviour, increasing the number of shorter bouts, and this was found to underlie a variety of specific behavioural changes. The results indicate that Toxoplasma infection probably affects the animal's response to its environment and the stimulation arising from it, and may even affect endogenous regulatory processes in the brain.

The fine structure of the CNS in multiple sclerosis. I. Interpretation of cytoplasmic papovavirus-like and paramyxovirus-like inclusions.

During an electron microscopic study of the white matter in multiple sclerosis (MS), spheroidal reticular particles were found both in MS and in control brains. These particles have previously been described in the brain in MS and in brain-derived cell cultures in subacute sclerosing panencephalitis. In both cases they were interpreted as papovaviruses, but in size, morphology and distribution they are identical to the reticulosomes and related particles which occur as proteinaceous artefacts in a variety of tissues and in subcellular fractions. Inclusions in endothelial cell cytoplasm, previously reported from the CNS in MS as paramyxovirus similar to measles, have also been found in the present study. The were present both in MS and in control brains and are identified as "rod-shaped tubular bodies", normally occurring organelles of endothelial cells. The necessity for a cautious interpretation of virus like inclusions in emphasized.

Light and electron microscopy on the sporulation of the oocysts of Eimeria brunetti. I. Development of the zygote and formation of the sporoblasts.

The initial stages of sporulation in oocysts of Eimeria brunetti were examined in samples sporulated at 27 degrees C for 0, 12 and 24 hours. The initial zygote was found to be roughly spherical and to contain a number of polysaccharide granules which were congregated in one region of the organism. The cytoplasm also contained some strands of rough endoplasmic reticulum together with a number of mitochondria, some Golgi bodies, and some electron translucent vacuoles. The nucleus was large, with amorphous nucleoplasm and a nucleous. The cytoplasmic mass of the zygote was limited by a single unit membrane which possessed some micropores. After initiation of the sporulation, the metabolic activity of the organism appeared to increase as evidenced by the augmentation in the cytoplasm of the amounts of rough endoplasmic reticulum, number of Golgi bodies, and the appearance of polyribosomes. However, at this stage, the presence of large spherical bodies (anlagen of the refractile bodies of the sporozoites) constituted the most obvious change in the cytoplasm of the organism. After nuclear division the daughter nuclei were situated well separated in the cytoplasm and the polysaccharide granules were evenly distributed throughout the cytoplasm of the zygote. Eventually four sporoblasts were formed by invaginations of the limiting membrane. Each sporoblast was limited by a unit membrane and contained a nucleus, and the same cytoplasmic organelles as found in the zygote. The development of the sporoblast was initially accompanied by the appearance of a second limiting membrane.

Light and electron microscopy on the sporulation of the oocysts of Eimeria brunetti. II. Development into the sporocyst and formation of the sporozoite.

The later stages of sporulation in oocysts of Eimeria brunetti were examined in samples which had been allowed to sporulate at 27 degrees C for 24, 36 and 48 hours. It was observed that the sporoblasts became ellipsoidal and the nucleus underwent the final division. A nucleus with associated Golgi bodies was not observed at either end of the organism. The cytoplasm was limited by two unit membranes and contained rough endoplasmic reticulum, dense bodies, electron translucent vacuoles and mitochondria. The first evidence of sporozoite formation was the appearance of a dense plaque at either end of the organism. This appeared in the vicinity of the nuclei, and adjacent to the limiting membrane of the soroblast. At this stage the sporocyst wall was still unformed. Then the two sporozoites were formed from opposite ends of the organism by growth of the dense plaques and invaginations of the plasmalemma which thus formed the pellicles of the developing sporozoites. A conoid and subpellicular microtubules were observed at this stage as development continued, a number of vacuoles were found between the nucleus and the conoid. These vacuoles constituted the precursors of the rhoptries and micronemes. At the same stage a large dense body had appeared within the forming sporozoite. As the sporozoite developed, this body, anterior refractile body, is followed by the nucleus and another dense body which formed the posterior refractile body. During this period, the thin sporocyst wall was formed and Stieda and sub-Stieda bodies were now present at one end of the sporocyst. Each mature sporocyst contained two sporozoites.

Acute optic neuritis and the prognosis for multiple sclerosis.

In a retrospective survey of acute optic neuritis 144 cases in adults were found and, of these, 127 were reviewed, five had died of causes related to multiple sclerosis, and 12 were lost to follow-up. There was a statistically significant seasonal variation in the incidence of optic neuritis. When the life-table method of analysis was used, the probability of developing multiple sclerosis rises to 78% 15 years after an episode of optic neuritis. At review, 49 (73%) of the 67 patients with multiple sclerosis were independent and leading active lives.

Measles-virus-specific IgG in optic neuritis and in multiple sclerosis after optic neuritis.

Measles-virus-specific IgG was measured in the serum of 100 patients who had presented with optic neuritis (ON) during 1960-74. When reviewed 41 of them were found to have developed definite symptoms and signs of multiple sclerosis (MS), their serum containing significantly higher titres of the antibody than sera from either the rest of the patients or a group of normal healthy controls. In a few patients from whom cerebrospinal fluid (CSF) was obtained in the acute phase of ON, titres of measles IgG in the serum was higher in those in whom the antibody was detected in the CSF than the serum of patients without CSF antibody.

Carotid artery thrombosis, encephalitis, myelitis and optic neuritis associated with rubella virus infections.

The clinical, virological and pathological findings in 5 patients with neurological complications associated with rubella virus infection are described. The neurological illnesses began four to ten days after the rubella illnesses. The patients were all males aged between 6 and 17 years and were diagnosed during one non-epidemic year in a population of 1-5 million people. All the patients had rubella specific IgM in their sera. Two patients had no rash. In one of the patients who died, left internal carotid artery thrombosis and cerebral infarction were found at post-mortem. Rubella virus antigen and particles resembling rubella virus were found in the brain together with IgG and IgM in the same areas. This patient also had extensive liver necrosis. The other patient had a severe meningomyelitis and radiculitis and he recovered completely after two years. His serum rubella antibody rose significantly and was shown to leak into CSF during the acute stage of his illness. Three patients had a rash. Two of these patients had encephalitis: one recovered completely and the other had residual disability. The third patient had bilateral optic neuritis from which he recovered completely. Rubella specific IgM was, however, present in his serum for the abnormally long time of twenty-eight weeks indicating possible persistence of rubella virus.

Cerebral embolism and mitral stenosis: survival with and without anticoagulants.

Eighty-four patients with mitral stenosis and cerebral embolism have been followed up for 20 years. Half of the series (those treated in the early years) had no anticoagulant treatment and half were given long-term warfarin therapy. Mortality rate and causes of death have been reviewed, and comparison of survival times of treated and untreated groups by life-table analysis bears out the immediate need for anticoagulants when a diagnosis of systemic embolism is established. It is wise to continue the treatment for six months but it may be reasonable to discontinue it after one year with patients who can be assured of regular review.