A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients.
In a clinical, radiological and biochemical study of forty-two patients from Oxford with osteogenesis imperfecta, it was found that patients could be divided simply into mild, moderate and severe groups according to deformity of long bones. In the severe group (seventeen patients) a family history of affected members was uncommon and fractures began earlier and were more frequent than in the mild group (twenty-two patients); sixteen patients in the severe group had scoliosis and eleven had white sclerae; no patients in the mild group had white sclerae or scoliosis. Radiological examination of the femur showed only minor modelling defects in patients in the mild group, whereas in the severe group five distinct appearances of bone (thin, thick, cystic and buttressed bones, and those with hyperplastic callus) were seen. The polymeric (structural) collagen from skin was unstable to depolymerisation in patients in the severe group, but normal in amount, whereas the reverse was found in the mild group. This division according to long bone deformity may provide, a basis for future research more useful than previous classifications. (+info)
Pupillary "dilatation lag" in Horner's syndrome.
1. Clinical examination will often fail to identify the presence of a unilateral Horner's syndrome. 2. Confirmation and localization of Horner's syndrome is of clinical prognostic value. 3. Cocaine testing provides confirmation of a Horner's syndrome, but it takes 45 min, is sometimes equivocal, and always delays the localizing hydroxyamphetamine test. 4. "Dilatation lag" is a sensitive and physiological sign of Horner's syndrome, and can be demonstrated by simple Polaroid flash photographs. (+info)
Evolution of the retinal black sunburst in sickling haemoglobinopathies.
In a prospective study of 38 patients, who were initially selected as being at an early stage of sickling retinopathy, three developed circular black chorio-retinal scars (black sunbursts) during a period of 6 to 24 months. These lesions appear to be the sequelae of intraretinal and subretinal haemorrhage. They occur in the fundus periphery and do not interfere with vision. (+info)
Menkes' kinky hair disease: a light and electron microscopic study of the eye.
Light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane. (+info)
GUANETHIDINE AND PUPILLARY REACTION.
Local application of guanethidine to the eye results in miosis. The sympathicolytic action of guanethidine on the pupil was proved by the consistent appearance of a Horner's syndrome after instillation of a 10% solution into the conjunctival sac. Lack of cocaine mydriasis and unimpaired adrenaline mydriasis after guanethidine application are further evidence of this mode of action. Guanethidine is the first drug that can be consistently relied upon to produce miosis by inhibiting sympathetic impulses to the intraocular pupillary muscles; it also inhibits sympathetic impulses to Horner's muscle of the upper lid. It is a reliable sympathicolytic agent for testing the reaction of abnormal pupils. (+info)
Beclomethasone dipropionate aerosol in treatment of hay fever in children.
Eighteen children suffering from hay fever were treated with intra-nasal beclomethasone dipropionate (400 mug/day) and an identical placebo aerosol in a double-blind cross-over trial. 17 of the children preferred the intranasal beclomethasone dipropionate, one had no preference, none preferred the placebo. The effect on the nasal symptoms was impressive. Symptom scores decreased, on average, to 12% and the number of antihistamine tablets taken to 18% of the pretreatment amount. Some beneficial effect on eye symptoms was also discernible, possibly due to an indirect influence from the nasal mucosa via the nasolacrimal reflex. Adrenal function was not affected. It was concluded that 400 mug beclomethasone dipropionate given intranasally daily for some weeks is an effective and safe treatment for hay fever in children. (+info)
Thymoma, myasthenia gravis, erythroblastopenic anemia and systemic lupus erythematosus in one patient.
A 50-year-old woman who initially had myasthenia gravis subsequently presented with thymoma, erythroblastopenic anemia and systemic lupus erythematosus during 17 years of follow-up. In a review of the literature no similar documented cases were found, although 14 patients were reported with three of the above diseases, two also having positive LE cell tests. An association of several autoimmune disorders in one patient may be more frequent than was previously believed. (+info)
Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies.
A study in Jamaica of 60 patients with sickle-cell anaemia over the age of 30 years showed that most of them were in full-time employment. Pains in the bones or joints, leg ulceration, and jaundice were the most frequent types of presentation, but only two patients had a haemoglobin level consistently below 6 g./ 100 ml. Most of the patients were well developed and of average height, and, though the development of secondary sexual characteristics was delayed, there was an average of 2.6 pregnancies per patient. These findings suggest that the course is more benign than has been realized. (+info)