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PubMed1979

Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family.

Fourteen clinically affected and 40 asymptomatic members of a six generation family with Leber's optic neuropathy have been studied clinically and by recording pattern-reversal visual evoked potentials. While 12 of the affected members had suffered the typical sequential bilateral failure of vision, in 2 the condition was still monocular after periods of 12 and 14 years. Reduced vascularity of the optic nerve head was found in 11 of these cases, all of whom had some degree of optic atrophy, and showed a significant correlation with the visual acuity. Excessive tortuosity of peripheral retinal vessels was noted in 6 cases and was a prominent feature in the unaffected eye of one of the subjects with monocular visual impairment. In cases with advanced visual impairment the VEP was absent bilaterally, while in those with less severe involvement responses which were delayed, desynchronized and much small than normal could still be recorded. Two subjects with early bilateral clinical involvement had normal or minimally abnormal responses. Repeat studies in 6 subjects after intervals of up to fifteen months showed no change in 4 and a deterioration in 2. It is concluded that the VEP findings in clinically affected subjects are in keeping with a severe demyelinating lesion of the optic nerve with associated nerve fibre loss. Mild impairment of colour vision, pallor or reduced vascularity of the optic nerve head, excessive tortuosity of retinal vessels, a small central scotoma, and/or mild abnormalities or atypical features of the VEP were found in 16 of the 40 asymptomatic family members studied. Such abnormalities were present in 50 per cent of descendants from the female lineage who were at risk of developing the disease, and also in 30 per cent of descendants from male lineages who were not at risk. These findings suggest that there is a stage prior to the onset of visual impairment during which subtle abnormalities may be detected in individuals at risk of developing or transmitting the disease. The finding of asymptomatic abnormalities in descendants from male lineages could be accounted for by transmission of a partial form of the disease by affected or unaffected males, which would be in accord with a cytoplasmic mechanism of transmission for the disease.

Adolescent↗
PubMed1979

Evolution, maturation, and regression of lesions of psoriasis. New observations and correlation of clinical and histologic findings.

The evolution, maturation, and regression of lesions of psoriasis were studied histologically. The earliest histologic changes in pinhead-sized macules of psoriasis consist of a superficial perivascular infiltrate of lymphocytes and histiocytes and dilation and tortuosity of the blood vessels in the dermal papillae. Some lymphocytes move upward into the spinous zone of the epidermis and slight intercellular edema develops. Above these slight spongiotic foci, and after the granular layer disappears, the cornified layer becomes compact, and parakeratosis and epidermal hyperplasia develop. Only then do neutropils move through the epidermis into the mounds of parakeratosis. These changes, initially focal and episodic, become more confluent and constant, resulting in formation of clinical plaques. In spontaneously resolving lesions, inflammatory cells disappear first, the other changes next, and tortuosity of blood vessels in the dermal papillae last.

Capillaries↗
PubMed1979

Retinal arteriolar changes as an indicator of coronary artery disease.

Funduscopic examination was performed in 70 non diabetic, nonhypertensive patients without valvular heart disease undergoing coronary angiography for evaluation of chest pain syndromes to determine if retinal arteriolar changes could reliably predict presence of coronary artery disease. Retinal arteriolar changes were graded with respect to light reflex, vessel caliber, arteriovenous crossing defects, and vessel tortuosity without knowledge of angiographic findings. Each coronary vessel was graded with respect to its most occlusive lesion by angiography; coronary index was derived for each patient without knowledge of eye findings. Abnormal light reflex changes were the most sensitive indicators of presence and extent of coronary artery disease. Abnormal vessel tortuosity and decreased caliber were less sensitive but more specific; their presence also suggested more extensive coronary lesions. Thus, funduscopic examination demonstrating specific retinal arteriolar lesions may indicate presence of coronary artery disease and may correlate with extent of lesions in selected patients.

Adult↗
PubMed1979

Hazards of straight catheter aortography in the tortuous abdominal aorta.

Twenty abdominal aortograms utilizing a straight-tipped catheter were evaluated for catheter tip motion during the injection of contrast media. The catheter tips were stable in 15 patients but showed downward recoil in the remaining 5 patients. These 5 patients had marked tortuosity of their abdominal aortae which was felt to be the etiology of the catheter tip instability. Based on this finding, the use of a straight-tipped catheter is to be discouraged in patients with extreme tortuosity of the abdominal aorta.

Aorta, Abdominal↗
PubMed2026

Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities.

SMAD6 encodes an inhibitory SMAD protein that modulates BMP and TGF-β signaling. Heterozygous pathogenic variants in SMAD6 have been primarily associated with aortic valve disease, radioulnar synostosis, and nonsyndromic sagittal and metopic synostosis. However, only two syndromic patients with biallelic variants have been reported in the literature. We report a 4-year-old girl with neurodevelopmental delays, dysmorphic features, complex congenital heart disease, renal asymmetry, and arterial tortuosity. Whole exome sequencing showed two homozygous SMAD6 variants of uncertain significance: c.161G>T (p.Gly54Val) and c.1A>G (p.Met1?). This is the third patient with biallelic SMAD6 variants associated with skeletal changes, more complex cardiovascular phenotype, facial dysmorphism, and novel arterial abnormalities. This suggests biallelic variants may cause a distinct and potentially more severe autosomal recessive syndrome. Functional investigation is needed to determine the molecular consequences of biallelic SMAD6 variants and to inform variant classification and mechanism. This report characterizes a potential unique genetic syndrome associated with biallelic SMAD6 variants, highlighting the importance of additional sequencing, vascular imaging, and multidisciplinary care coordination for these patients.

SMAD6↗
PubMed1977

Arterial vascular anomalies of the retina.

The incidence of nonaneurysmal congenital anomalies of the retinal arteries was determined by ophthalmoscopic examination of the eyes of 2,100 consecutive healthy individuals whose ages ranged from 6 to 68 years. Unusual anomalies were triple branching, anomalous course, arteriolar-arterial crossing, unusual tortuosity, prepapillary loops, aberrant macular arteries, unusual supply of the optic disc, presumed total ciliary arterial supply of the retina, anomalous relationship with the central retinal vein at the optic disc, and pseudoaneurysm of a major retinal artery. Cilioretinal arteries are the commonest of the congenital vascular anomalies of the retina.

Adolescent↗
PubMed1978

Central retinal artery occlusion complicating Fabry's disease.

A 16-year-old boy had a central retinal artery occlusion and was subsequently diagnosed as a hemizygote with Fabry's disease. The typical ocular manifestations in males with this inborn error of glycosphingolipid metabolism include whorl-like corneal epithelial infiltrates, retinal and conjunctival vessel tortuosity, and lenticular changes. The present case represents the first report of a retinal artery occlusion as an ocular complication of Fabry's disease.

Adolescent↗
PubMed1979

The ocular manifestations in Fabry's disease.

We present the ocular manifestations in a series of 37 hemizygous male and 25 heterozygous female patients with Fabry's disease. The ocular findings typically do not impair vision, but are unique and diagnostic. Whorl-like corneal deposits were seen in almost all patients and were more severe in the heterozygotes. The lens showed cream-colored anterior capsular deposits, sometimes in striking "propeller" distribution, in one third of the hemizygotes, and in none of the heterozygotes. A faint but unique posterior capsular opacity with a branching radial pattern was seen in 37% of the hemizygotes and 14% of the heterozygotes. Conjunctival vessel aneurysmal dilations and retinal vessel tortuosity were both more frequent and severe in the hemizygotes. Severe visual loss occurred in two hemizygotes as a result of unilateral total central artery occlusions.

Adolescent↗
PubMed1979

Ocular findings in Kenny's syndrome.

In 1966, Kenny described two patients with an unusual congenital syndrome including dwarfism, thickened long bone cortex, transient hypocalcemia, and normal intelligence. These and other patients previously were incorrectly described as "myopic". Ocular findings in four subjects ranged from uncomplicated nanophthalmos with hyperopia to extreme pseudopapilledema, vascular tortuosity, and mucular crowding. Postmortem findings from one patient showed calcium deposits demonstrable only by special histochemical stains that were distributed uniquely in the cornea. This distribution differed greatly from the pattern seen in band keratopathy. Retinal calcification was also an unusual feature. Because one patient exhibited a pseudodoubling of the optic papilla, the literature was reviewed. We conclude that no convincing case of true doubling of the optic nerve has been described. Ophthalmologists should be alert for undiagnosed electrolyte abnormalities, especially hypocalcemia, in patients with Kenney's syndrome.

Adolescent↗
PubMed1979

Fabry's disease in a black kindred.

In a 16-member black kindred with Fabry's disease, four hemizygous males had plasma alpha-galactosidase levels less than 6% and seven heterozygous females had plasma alpha-galactosidase levels between 10% and 50% of normal. A 16-year-old index male had hypertension with left ventricular hypertrophy, abnormal renal function, tortuous retinal veins, "myelin" inclusions in bone marrow macrophages, and intraepithelial inclusion bodies in the kidney. Scrotal angiectasia developed a year after diagnosis. The three other affected males had left ventricular hypertrophy and retinal vein tortuosity. Of the seven carrier females, five had frequent headaches, four had retinal vessel changes, three had proteinuria with normal renal function, and two had bundle-branch blocks on ECGs. There was no deuteranomalopia in this family, although the inheritance pattern of the Fabry gene is X-linked recessive.

Adolescent↗
PubMed1978

Permeability of interstitial space of muscle (rat diaphragm) to solutes of different molecular weights.

The transport characteristics of muscle interstitial space were determined using an isolated rat diaphragm preparation. Permeability of the interstitial space for extracellular solutes is one-thirtieth to one-fiftieth that of an equivalent thickness of water. However, most of this low permeability can be accounted for by correcting for the tortuosity and relative volume of interstitial space. The estimated diffusivity of solutes (mol. wt. 100-70,000) in the interstitial space of muscle is only about one-half to one-fifth less than in water alone.

Animals↗
PubMed1978

Intrahepatic vascular lesions in experimental and natural ovine fascioliasis.

Using acrylic resin casts prepared from the liver vasculature and histology, subdivisions of the portal and hepatic systems stenosed as a result of experimental and natural infections of F. hepatica were identified as terminal, secondary and tertiary portal veins and central and sublobular hepatic veins; primary portal veins were also involved in the experimentally infected livers. Fewer veins tended to be involved in livers naturally-infected and they were more evenly distributed among liver lobes than in the experimental disease where most were found in the ventral lobe. Casts of both types of infection also demonstrated enlargement and tortuosity of arteries in ventral lobes and those forming the peribiliary arterial plexus, as well as showing that multiple anastomotic channels had formed. The arterial changes and anastomoses were suggested as developing to compensate for the effects of vascular stenosis. Portal vein stenosis induced experimentally was the outcome of replacement of eosinophils and oedema-like fluid present in veins around fluke tracks and of the organisation of fluke tracts impinging upon veins. During the post-migratory period of infection, stenosis became more marked, for which no adequate cause was identified. In livers naturally-infected, in addition to stenosed portal and hepatic veins, vascular channels in collagen septa in sinusoids and a slight convolution of arteries were seen.

Animals↗
PubMed1976

The development of retinopathy in sucrose-fed and streptozotocin-diabetic rats.

Normal and streptozotocin-diabetic rats have been maintained for 6--11 months on completely balanced, reconstituted diets in which the sole source of carbohydrate was either 68% corn starch or 68% sucrose. The retinal vascular system was isolated by trypsin digestion and examined histologically for the presence of tortuosity and irregularity of capillary diameter, increased PAS-positive deposits, microaneurysms, loss of pericytes, endothelial proliferation, acellularity and strand formation. None of these pathological changes occurred in normal rats fed a starch-rich diet, but all developed to a similar extent in the sucrose-fed normal rats and the starch-fed diabetic group. The changes were more severe in sucrose-fed diabetic rats after 6 months. In all groups the retinopathy progressed with time. The possibility that a factor common to both the ingestion of a sucrose-rich diet and streptozotocin diabetes in rats has been considered since, histologically, the retinopathy observed was identical both with respect to severity and rate of development in normoglycaemia, sucrose-fed and hyperglycaemia, starch-fed diabetic rats.

Animals↗
PubMed1976

Parathyroid function in rats treated with growth hormone. A morphometric study.

Male rats weighing 220-250 g were injected i.m. daily with 0.1 mg commercial human growth hormone for 3 days or 12 days. The serum concentration of total calcium phosphorus and alkaline phosphatase were significantly elevated for some days and returned to normal values at the end of the test period. The parathyroid glands, as studied by light and electron microscopical morphometry showed signs of reduced activity at the 4th day and also at the 13th day: a lowered nucleo-cytoplasmic ratio and a decrease of rough endoplasmic reticulum, of Golgi apparatus and of plasmalemmal tortuosity. The findings suggest a hypercalcemic effect of growth hormone involving peripheral organs of calcium metabolism, especially kidney and bone, and a secondary suppression of parathyroid glands by hypercalcemia.20

Alkaline Phosphatase↗
PubMed1979

Pseudoaneurysm formation secondary to spontaneous thrombosis of a massive cerebral arteriovenous malformation.

A case of a large cerebral arteriovenous malformation (AVM) with spontaneous partial thrombosis and intracerebral hematoma is reported. The unusual and unique features of the radionuclide brain scan and cerebral angiogram are described. The characteristic angiographic features of residual tortuosity and dilatation or pseudoaneurysm formation at the bifurcations of the feeding arteries in a partially thrombosed cerebral AVM have not been described previously in the literature.

Adult↗
PubMed1978

Histopathology of the conducting tissue of the heart in Chagas' myocarditis.

The conducting tissue of the heart was studied in 25 human cases of Chagas' myocarditis with a method which employs complete serial sections mounted on continuous transparent plastic tape. The pathological changes were correlated with electrocardiographic findings. The inflammation of the acute phase of Chagas' myocarditis, as seen in one single case, did not seem to interfere with conduction through the AV system. In chronic Chagas' myocarditis the conducting tissue showed extensive and variable changes: chronic inflammation, fibrosis, atrophy and fragmentation of specific fibers, extreme dilatation and tortuosity of veins, capillaries and lymphatics, fatty infiltration, and arterial medial and intimal fibrosis. A preferential involvement of the right bundle branch and the anterior fascicles of the left branch was observed and an excellent correlation with electrocardiographic abnormalities was found. There was also evidence presented that bundle branch block may be caused by disease proximal to the bundle branches. Complete AV block seemed to be the final result of the progressive inflammatory and degenerative changes involving the conduction system in chronic Chagas' myocarditis. Inflammation and fibrosis did also involve the sinoatrial node, Purkinje fibers, intracardiac nervous ganglia, and the contractile myocardium.

Acute Disease↗
PubMed1979

Congenital retino-pigment epithelial malformation, previously described as hamartoma.

Six patients with a congenital malformation of the retina and pigment epithelium had a slightly elevated greenish-blue or gray lesion in the macular area or fundus periphery composed of a flat, outer pigmented portion consisting of a layer of hyperpigmented, presumably hypertrophied retinal pigment epithelium and a prominent, unpigmented inner portion consisting of malformed thickened retina. Marked tortuosity of the retinal vessels was explained by an intraretinal disturbance of the retinal layering and the presence of preretinal membranes. Angiography revealed blockage of the background fluorescence caused by the abnormal retinal pigment epithelium and leakage from dilated, abnormal capillaries. Typically, the lesion was unilateral and was found in children or young adults who had monocular strabismus, reduced visual acuity, and often hyperopia. Most of the patients were males, and their cases were frequently misdiagnosed as tumors.

Adolescent↗
PubMed1976

Technical considerations in elderly renal allograft recipients.

Atherosclerosis in renal allograft recipients necessitated modification of vascular anastomoses in 62 per cent of patients older than forty years in contrast with 10 per cent in younger patients. Three forms of vascular disease occurred: atherosclerotic occlusion, tortuosity of vessels, and disruption of plaques by vascular clamps. Successful modifications of the procedure and avoidance of ischemic graft injury are described including relocation of the transplanted ureter.

Adolescent↗