The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy with some secondary degenerative changes in the contiguous tissue, and granular ependymitis. (+info)
Sickle-cell haemoglobin C disease in London.
(18/35)
The manifestations of the sickling disorders are becoming increasingly familiar to clinicians in Great Britain. One of these disorders, sickle-cell haemoglobin disease, has hitherto received little attention, being regarded as a relatively mild condition. This paper describes some of the distinctive clinical features of the disease as seen in a series of nine cases which have recently presented in London, two of which were fatal. The special hazards of the condition in relation to pregnancy, air travel, and general anaesthesia are discussed. (+info)
The clinical spectrum of Sjogren's syndrome.
(19/35)
These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California, San Francisco. Taken from transcriptions, they are prepared by Drs. David W. Martin, Jr., and Robert W. Schrier, Assistant Professors of Medicine, under the direction of Dr. Lloyd H. Smith, Jr., Professor of Medicine and Chairman of the Department of Medicine. Requests for reprints should be sent to the Department of Medicine, University of California, San Francisco, San Francisco, Ca. 94122. (+info)
Open evaluation of labetalol in the treatment of angina pectoris occurring in hypertensive patients.
(20/35)
1 In nine hypertensive subjects with angina pectoris, labetalol diminished the incidence of chest pain occurring spontaneously or induced by exercise. 2 Labetalol lowered BP in all subjects. 3 Exercise tolerance at maximum levels was increased by labetalol. 4 Improved cardiac function by labetalol may be related to decreased afterload on the left ventricle, and diminished oxygen utilization by the myocardium. (+info)
Ocular manifestations of vitamin-A deficiency in man.
(21/35)
Vitamin-A deficiency continues to be one of the most widely prevalent and devastating nutritional diseases of man. This is in spite of the discovery of vitamin A more than half a century ago and its now ready availability in inexpensive concentrated form. Lack of knowledge at many levels is the basis of this tragic situation, which may result in needless blindness and loss of life, especially among young children.As a contribution to the alleviation of the problem, the present paper has as its object the provision, for the general and hospital physician in those countries where xerophthalmia is endemic, of adequate descriptive and pictorial information to enable him to make an accurate diagnosis of vitamin-A deficiency when he is presented with any stage of the ocular manifestations. (+info)
Ocular correlates of inborn metabolic defects.
(22/35)
The eye provides unique opportunities for the detection, during life, of deposits of storage substances and other characteristic changes resulting from inborn metabolic defects. The cornea shows the macromolecular polysaccharides of Hurler's disease, the cystine crystals in cystinosis, and the copper deposits of Wilson's disease. The sclera shows characteristic pigmentation in alcaptonuria. The iris shows the lack of pigmentation in various types of albinism. The lens is cataractous in galactosemia and dislocated in homocystinuria. The vitreous is opacified in familial amyloidosis. The retina shows different and characteristic deposits with the diseases of Tay-Sachs, Niemann-Pick, metachromatic leukodystrophy, and Farber's lipogranulomatosis. The retinal veins show pronounced tortuosity with Fabry's disease. There is some evidence that optic neuropathy occurs in glucose-6-phosphate dehydrogenase deficiency. Curiously, few abnormalities in the eye have been described in subjects with the glycogen storage diseases. (+info)
Ocular findings in several metabolic diseases.
(23/35)
Changes in ocular findings have been noted in association with several metabolic diseases. In homocystinuria the crystalline lens in the majority of cases is subluxated inferiorly, while in Marfan's syndrome the dislocation was upward. In cystinosis, slit-lamp examination reveals numerous gold crystal-like cystine deposits in both the cornea and bulbar conjunctiva. Patients with galactosemia have cataracts of the "oil drop" type, which usually can be seen with an ophthalmoscope even though the opacity is not dense. Eight patients with Lowe's syndrome who were observed had cataracts, and four of them had severe glaucoma. Three of five patients with glycogen storage disease Type I had yellowish deposits in the macular and paramacular areas, thought to be due to hypercholesterolemia. (+info)
The case is reported of a young woman who suffered from lymphoid interstitial pneumonia. Involvement of the brain by what appeared to be an identical pathological process led to her death, and the orbital tissues were also involved at one stage. The cause of this condition is unknown, but the hypotheses are put forward that it may represent one facet of delayed hypersensitivity or that a slow virus is the responsible aetiological agent. Although lymphoid interstitial pneumonia has previously been reported as an isolated entity, the evidence from this case suggests that it might represent part of pluri-systemic disease. (+info)