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At least 19 recordsLinked to original sources
PubMed1979

Measurement of vessel tortuosity on fundus photographs.

Quantitative measurement of vessel tortuosity and its variation on fundus photographs is a sensitive means of obtaining information about the course of an asphyctic event in newborns, virtually independent of bias produced by the photographic process. We subdivide a tortuous vessel into single arcs and measure the chord length and the arrow height (Pfeilhöhe) of every arc on a projected image of the film. From these figures, a fairly accurate value for the relative length increase of the arc, as compared with the chord, can be derived by a simple approximation formula [Eq. (5)]. It is shown that neglect of the third dimension, not visible on an ordinary photograph, entails only a small error. Trained observers achieve results reproducible to about 1% in relative length variation.

Asphyxia Neonatorum↗
PubMed1979

Right-sided cervical aortic arch associated with tetralogy of Fallot and peculiar tortuosity of the descending aorta.

A right-sided cervical aortic arch, tetralogy of Fallot, and a peculiar tortuosity of the descending aorta in which the aorta formed triple loops were diagnosed by angiocardiography in a 12-year-old girl. Histologic examination of the biopsied wall of the left subclavian artery, taken at the time of a Blalock-Taussig anastomosis, revealed no elastic-tissue defect.

Angiocardiography↗
PubMed1976

Tortuosity of the cavernous carotid arteries causing sellar expansion simulating pituitary adenoma.

Tortuous, medially-displaced cavernous carotid arteries may cause sellar enlargement which simulates pituitary adenoma. Systemic hypertension appears to account for this tortuosity in some cases, while a congenital anomaly is probably responsible in others. Medical position of the carotid sulci may be demonstrated on sellar tomography. Cerebral arteriography provides the correct diagnosis. Surgery, particularly transsphenoidal hypophysectomy, should be avoided in such patients.

Adenoma↗
PubMed1978

The tortuous tube: pregnancy rate following laparoscopy and hydrotubation.

256 infertile women whose ovulatory and related male fertility factors were normal were investigated by diagnostic laparoscopy and dye hydrotubation. The tubes were objectively classed into 4 groups--normal, patent with macroscopic tubal adhesions, patent with one tortuosity, and patent with multiple tortuosities. The latter group had a highly significant response to the above procedures and 66% were pregnant within 1 year and 81% within 2 years. No significant effect was found in the other 3 groups. This multiple tortuosity group represents the type of tube that significantly responds to treatment inherent in all tubal patency tests. Its pathogenesis and management are discussed.

Adnexal Diseases↗
PubMed1979

Pitfalls in the plain film evaluation of the thoracic aorta: the mimicry of aneurysms and adjacent masses and the value of aortography. Part II. Descending thoracic aorta.

Distinguishing posterior mediastinal and pulmonary masses from aneurysms and tortuosity of the descending thoracic aorta may be difficult, as five such cases illustrate. Both the neoplasms and the aortic aneurysms or tortuosity can compress the same vital mediastinal structures; thus, they may give rise to the same symptoms. Because the plain film findings may also be similar, aortography is essential to their diagnosis.

Aged↗
PubMed2026

Can we identify people with Alzheimer's disease from examination of the eye? A bidirectional Mendelian randomization (MR) study.

BACKGROUND: Neurodegeneration in Alzheimer's disease (AD) is thought to be driven by amyloid-beta and tau deposition in the cerebral vasculature and brain. As the eye is an extension of the central nervous system, this study aimed to determine which neurovascular and neuroretinal changes in the eye are caused by AD rather than associations of the disease. METHODS: Bidirectional two-sample univariable and multivariable Mendelian randomization (MR) methods were applied. Instrumental variables were derived from genome-wide association studies (GWAS) of AD and the following ocular features: thickness measurements of central macula (MT), retinal nerve fibre layer (mRNFL), ganglion cell-inner plexiform layer (mGCIPL), outer nuclear layer (ONL), inner segment layer (IS), and outer segment (OS) from macular region OCT scans; arteriolar tortuosity (AT), venular tortuosity (VT), venular width (VW), fractal dimension (FD), vertical cup-to-disc ratio (VCDR), optic cup area (OCA), and optic disc area (ODA) derived from other imaging methods. RESULTS: There was strong evidence that genetic liability to AD affected the retinal vasculature by specifically increasing AT (β = 0.007;95%CI=0.002,0.011;p-value=0.005) in UK Biobank participants (n=52,798). AD may influence the mRNFL (β=-0.047,95%CI=-0.119,0.023,p-value=0.18) and mGCIPL (β=-0.061;95%CI=-0.14,0.025,p-value=0.16) of the inner retina and OS layer (β = 0.044;95%CI=-0.0001,0.08;p-value=0.05) but the evidence was weak. Multivariable MR analysis showed that a causal relationship between optic disc area and AD (OR=0.76;95%CI=0.62,0.93,p-value=0.009) was probably mediated by refractive error. CONCLUSION: Early cerebrovascular signs of AD may be detected by examination of the eye. Further investigation is required to determine the clinical utility of eye screening for dementia.

Humans↗
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↗
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↗