Hereditary endotheliopathy with retinopathy, nephropathy, and stroke(HERNS)

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1322-1330 ◽  
Author(s):  
J. Jen ◽  
A. H. Cohen ◽  
Q. Yue ◽  
J. T. Stout ◽  
H. V. Vinters ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Basement Membranes ◽  
American Family ◽  
Psychiatric Disturbance ◽  
Systemic Involvement ◽  
Ultrastructural Studies ◽  
The Third ◽  
Fourth Decade ◽  
The Brain ◽  
Renal Abnormalities

We describe a Chinese American family with a hereditary syndrome consisting of retinopathy, nephropathy, and stroke, affecting 11 members spanning three generations. Ophthalmologic evaluations revealed macular edema with capillary dropout and perifoveal microangiopathic telangiectases. Several members had renal abnormalities with proteinuria and hematuria. Initial manifestations were visual impairment and renal dysfunction; neurologic deficits occurred in the third or fourth decade of life. Symptoms included migraine-like headache, psychiatric disturbance, dysarthria, hemiparesis, and apraxia. Neuroimaging consistently demonstrated contrast-enhancing subcortical lesions with surrounding edema. Ultrastructural studies showed distinctive multilaminated vascular basement membranes in the brain and in other tissues, including the kidney, stomach, appendix, omentum, and skin. Genetic analysis ruled out linkage to the CADASIL locus on chromosome 19. Distinct from CADASIL, hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is an autosomal dominant multi-infarct syndrome with systemic involvement.

scholarly journals Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease

2021 ◽  
Vol 79 (4) ◽  
pp. 373-376
Author(s):  
Sofia Antunes-Duarte ◽  
Maria Mendonça-Sanches ◽  
Rita Pimenta ◽  
Ana Margarida Coutinho ◽  
Catarina Silveira ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Secretory Pathway ◽  
Autosomal Dominant ◽  
Novel Mutations ◽  
The Third ◽  
Fourth Decade ◽  
Erythematous Plaques

Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling.

ADRENOCORTICAL FUNCTION IN PATIENTS WITH ACUTE SEVERE BRAIN AND PITUITARY LESION

1962 ◽  
Vol 40 (2) ◽  
pp. 254-262 ◽  
Author(s):  
H. H. Bassøe ◽  
R. Emberland ◽  
E. Glück ◽  
K. F. Støa
Keyword(s):  
Pituitary Gland ◽  
Adrenal Cortex ◽  
Artificial Ventilation ◽  
Practical Significance ◽  
Adrenocortical Function ◽  
The Third ◽  
Low Levels ◽  
Pituitary Lesion ◽  
Steroid Excretion ◽  
The Brain

ABSTRACT The steroid excretion and the plasma corticosteroids were investigated in three patients with necrosis of the brain and of the pituitary gland. The patients were kept alive by artificial ventilation. In two of the patients the neutral 17-ketosteroids and the 17-hydrocorticosteroids fell to extremely low levels. At the same time, the number of eosinophil cells showed a tendency to increase. Corticotrophin administered intravenously twice to the third patient had a stimulating effect on the adrenal cortex. The theoretical and practical significance of these findings is discussed.

The Meditations

2017 ◽  
Author(s):  
Walter Ott
Keyword(s):  
Perceptual Experience ◽  
Developmental Reading ◽  
Basic Structure ◽  
Brain Image ◽  
The Real ◽  
The Third ◽  
Real Work ◽  
Sensible Qualities ◽  
The Brain

Despite its difference in aspiration, the Meditations preserves the basic structure of perceptual experience outlined in Descartes’s earliest works. The chapter explores Descartes’s notion of an idea and uses a developmental reading to clear up the mystery surrounding material falsity. In the third Meditation, our protagonist does not yet know enough about extension in order to be able to tell whether her idea of cold is an idea of a real feature of bodies or merely the idea of a sensation. By the time she reaches the end of her reflections, she has learned that sensible qualities are at most sensations. As in his earliest stages, Descartes believes that the real work of perceiving the geometrical qualities of bodies is done by the brain image, which he persists in calling an ‘idea,’ at least when it is the object of mental awareness.

scholarly journals A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Saba Ahmad ◽  
Luis Manon ◽  
Gifty Bhat ◽  
Jerry Machado ◽  
Alice Zalan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Differentiation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disease ◽  
Sacrococcygeal Teratoma ◽  
Dominant Disease ◽  
The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

Trail Making Test Performance in Relation to Certain Experimenter, Test and Subject Variables

1964 ◽  
Vol 19 (1) ◽  
pp. 199-206 ◽  
Author(s):  
Oscar A. Parsons ◽  
Harriet I. Maslow ◽  
Freda Morris ◽  
J. Peter Denny
Keyword(s):  
Test Performance ◽  
Screening Test ◽  
Poor Performance ◽  
Trail Making Test ◽  
Psychiatric Disturbance ◽  
The Poor ◽  
Subject Variables ◽  
Trail Making ◽  
The Brain ◽  
Order Of Administration

The Trail Making Test, previously reported highly effective in differentiating brain-damaged from non-brain-damaged Ss, was administered to 21 brain-damaged Ss and 63 non-brain-damaged Ss. Since the latter Ss performed at a level indistinguishable from that of the brain-damaged Ss, several studies were designed in an attempt to “explain” the poor performance of the non-brain-damaged Ss. The possible effects of behavioral agitation, anxiety, examiner differences, facility with letters of the alphabet, order of administration, and ego-involvement were investigated. Only anxiety was found to be significantly related to performance. However, in other analyses age, education, vocabulary, and degree of psychiatric disturbance were significantly related to performance. Until these variables are considered in the scoring system, it seems unlikely that the TMT will be effective as a general screening test for brain-damage.

The effect of hypophysectomy on physiological color change in Fundulus heteroclitus

1971 ◽  
Vol 49 (1) ◽  
pp. 129-131 ◽  
Author(s):  
F. S. Abbott ◽  
M. B. Favreau
Keyword(s):  
Histological Examination ◽  
Fundulus Heteroclitus ◽  
Color Change ◽  
The Third ◽  
The Brain

Thirty-eight Fundulus heteroclitus were tested for ability to adapt to white and black backgrounds. They were then hypophysectomized and distributed individually to white and black containers. Their ability to adapt to background was determined for periods up to 2 weeks. Sixteen operated fish retained their preoperative ability to adapt; 8 became dark temporarily; 14 became persistently dark. Histological examination confirmed the result of the operation. In the third group of fish the persistent darkness was not associated with damage to specific areas of the brain although damage was more widespread in this group. It is concluded that hypophysectomy does not interfere with physiological color change in F. heteroclitus. The location of the central relays in the melanophore system could not be determined.

Experimental Third Ventriculostomy Performed Using Endovascular Surgical Techniques and Their Adaptation to Percutaneous Intradural Neuronavigation: Proof of Concept Cadaver Study

Neurosurgery ◽  
2003 ◽  
Vol 53 (2) ◽  
pp. 387-392 ◽  
Author(s):  
Michael B. Horowitz ◽  
Kamal Ramzipoor ◽  
Ajit Nair ◽  
Susan Miller ◽  
George Rappard ◽  
...  
Keyword(s):  
Third Ventricle ◽  
Surgical Techniques ◽  
Cadaver Study ◽  
Brain Parenchyma ◽  
Third Ventriculostomy ◽  
General Anesthetic ◽  
The Third ◽  
Noncommunicating Hydrocephalus ◽  
Pass Through ◽  
The Brain

Abstract OBJECTIVE Endoscopic third ventriculostomy has developed into a therapeutic alternative to shunting for the management of carefully selected patients with primarily noncommunicating hydrocephalus. This procedure, however, requires a general anesthetic and necessitates violation of the brain parenchyma and manipulation near vital neural structures to access the floor of the third ventricle. Using two cadavers and off-the-shelf angiographic catheters, we sought to determine whether it was possible to navigate a catheter, angioplasty balloon, and stent percutaneously through the subarachnoid space from the thecal sac into the third ventricle so as to perform a third ventriculostomy from below. METHODS Using biplane angiography and off-the-shelf angiographic catheters along with angioplasty balloons and stents, we were able to pass a stent coaxially from the thecal sac to and across the floor of the third ventricle so as to achieve a third ventriculostomy from below. RESULTS Coaxial catheter techniques allowed for the percutaneous insertion of a stent across the floor of the third ventricle. Ventriculostomy was confirmed by injecting contrast medium into the lateral ventricle and seeing it pass through the stent and into the chiasmatic cistern. CONCLUSION We describe the performance of third ventriculostomies in two cadavers by use of the new concept of percutaneous intradural neuronavigation. This procedure may obviate the need for general anesthetic and minimize the potential for brain and vascular injury, especially if ultimately combined with magnetic resonance fluoroscopy.

scholarly journals Morphology of the vertebral artery in Asian population

2014 ◽  
Vol 5 (4) ◽  
pp. 84-88 ◽  
Author(s):  
Maryna Alfaouri-Kornieieva ◽  
Azmy M Al-Hadidi
Keyword(s):  
Vertebral Artery ◽  
Asian Population ◽  
Outer Diameter ◽  
Medical Sciences ◽  
The Third ◽  
Asian Patients ◽  
Distal Loop ◽  
The Right ◽  
Occipital Lobes ◽  
The Brain

Background: Recent clinical trials have shown a rising trend of stroke in Asian population. Approximately 20% strokes of total occur at the vertebrobasilar basin that supplies the occipital lobes of the brain, the cerebellum, and the brainstem. The anatomical features and variability of the third segment of the vertebral artery (VA) in Asians are analyzed in this study. Methods: A prospective cohort study of 68 consecutive Asian patients underwent MRA examination for head and neck in the Department of Radiology of Hospital of University of Jordan from 1.10.2011 to 30.04.2012. The 116 VA were analyzed on the obtained angiograms. Results: The third segment (V3) of the VA was studied according to its conventional division into vertical, horizontal, and oblique parts. The mean outer diameter of the V3 varied up 3.18 ± 0.73 to 4.28 ± 1.08 mm. The parameter prevailed on the left in 91% cases and was greater in males, than in females. The distal loop of the VA projected downward in 26 cases on the right (78%) and in 28 cases on the left (74%). The tortuosity of loop?formations of V3 was evaluated subject to angles between their ascending and descending bends. Conclusion: In comparison with other ethnic groups, the V3 of the VA in Asians has lesser outer diameter, especially along its oblique part; the zero?distance between the occipital bone and horizontal segment of VA occurs more often (up to 26%); the Lang’s III type of V3 variability is the most common in Asians. DOI: http://dx.doi.org/10.3126/ajms.v5i4.6150 Asian Journal of Medical Sciences 2014 Vol.5(4); 84-88

scholarly journals Fear of Cigarette Smoke and the Brain Reaction on Nicotine

2019 ◽  
Vol 1 (5) ◽  
Author(s):  
Branislav R. Tanasic
Keyword(s):  
Opposite Effect ◽  
Cocaine Addiction ◽  
Psychoactive Substance ◽  
Health Warning ◽  
Us Congress ◽  
The Third ◽  
The Us ◽  
Cell Processes ◽  
The Brain ◽  
Brain Reaction

 Nicotine addiction is categorized as severe addiction immediately behind heroin. The third place on the list is cocaine addiction, followed by alcohol, etc. Nicotine is a powerful psychoactive substance that disrupts bio-cell processes and changes behavior. It causes dependence on smokers, but tar is a highly potent killing substance. Therefore, in 1965 the US Congress passed a law on mandatory health warning stickers on tobacco packs. Numerous studies have shown that the health warning does not affect the reduction in the number of cigarettes smoked, contrary to this warning motivates smokers to light-up a new cigarette. What actually happens in the smoker's heads and why? s the health warning a subtly designed subliminal message, or is its opposite effect a consequence of the brain filtration mechanism, or is it simply a synergy of the above-mentioned phenomena?

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