scholarly journals Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders

2020 ◽  
Vol 11 (5-6) ◽  
pp. 309-314
Author(s):  
Veronica Arora ◽  
Sunita Bijarnia-Mahay ◽  
Sudhisha Dubey ◽  
Renu Saxena
Keyword(s):  
Cerebellar Atrophy ◽  
Supporting Evidence ◽  
Mri Findings ◽  
Peroxisomal Disorders ◽  
Inborn Errors ◽  
Oxidase Deficiency ◽  
Uncertain Significance ◽  
The Mind ◽  
Single Enzyme

Peroxisomal disorders are a heterogeneous group of inborn errors of metabolism that result in impaired function of the peroxisome. Within this, single enzyme deficiencies are known to cause a constellation of symptoms not very different from the peroxisome biogenesis defects. Thus, there is a need to identify features that differentiate the two. We present 3 molecularly confirmed families: 1 with Acyl CoA oxidase deficiency and 2 with D-bifunctional protein deficiency. The clinical, biochemical, and radiological features of these patients have been discussed. We attempt to highlight the overlap in facial features as well as strikingly similar MRI findings of cerebellar atrophy and white matter hyperintensities. This unique clinical profile will not only help in reaching a quick diagnosis, but in this era of variants of uncertain significance, it will prove as supporting evidence. Finally, we expand the genotypic spectrum with a description of 3 homozygous novel mutations (<i>HSD17B4</i>: c.670C&#x3e;T, c.1807T&#x3e;C; <i>ACOX1</i>: 1.03-kb exonic deletion) and discuss the role of protein modeling its establishing pathogenicity.

scholarly journals Cerebellar contributions to cognition in corticobasal syndrome and progressive supranuclear palsy

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Nga Yan Tse ◽  
Yu Chen ◽  
Muireann Irish ◽  
Nicholas J Cordato ◽  
Ramon Landin-Romero ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Progressive Supranuclear Palsy ◽  
Cognitive Processing ◽  
Cerebellar Atrophy ◽  
Corticobasal Syndrome ◽  
Supporting Evidence ◽  
Cognitive Domains ◽  
General Linear Model Analysis ◽  
Crus I

Abstract Mounting evidence suggests an association between cerebellar atrophy and cognitive impairment in the main frontotemporal dementia syndromes. In contrast, whether cerebellar atrophy is present in the motor syndromes associated with frontotemporal lobar degeneration (corticobasal syndrome and progressive supranuclear palsy) and the extent of its contribution to their cognitive profile remain poorly understood. The current study aimed to comprehensively chart profiles of cognitive impairment in relation to cerebellar atrophy in 49 dementia patients (corticobasal syndrome = 33; progressive supranuclear palsy = 16) compared to 33 age-, sex- and education-matched healthy controls. Relative to controls, corticobasal syndrome and progressive supranuclear palsy patients demonstrated characteristic cognitive impairment, spanning the majority of cognitive domains including attention and processing speed, language, working memory, and executive function with relative preservation of verbal and nonverbal memory. Voxel-based morphometry analysis revealed largely overlapping patterns of cerebellar atrophy in corticobasal syndrome and progressive supranuclear palsy relative to controls, primarily involving bilateral Crus II extending into adjacent lobules VIIb and VIIIa. After controlling for overall cerebral atrophy and disease duration, exploratory voxel-wise general linear model analysis revealed distinct cerebellar subregions differentially implicated across cognitive domains in each patient group. In corticobasal syndrome, reduction in grey matter intensity in the left Crus I was significantly correlated with executive dysfunction. In progressive supranuclear palsy, integrity of the vermis and adjacent right lobules I–IV was significantly associated with language performance. These results are consistent with the well-established role of Crus I in executive functions and provide further supporting evidence for vermal involvement in cognitive processing. The current study presents the first detailed exploration of the role of cerebellar atrophy in cognitive deficits in corticobasal syndrome and progressive supranuclear palsy, offering insights into the cerebellum’s contribution to cognitive processing even in neurodegenerative syndromes characterized by motor impairment.

The Modern Aristotle: Michael Polanyi’s Search for Truth against Nihilism

2018 ◽  
Author(s):  
Ronald Hoinski ◽  
Ronald Polansky
Keyword(s):  
Philosophy Of Science ◽  
Modern Science ◽  
Michael Polanyi ◽  
Contemporary Philosophy ◽  
The Face ◽  
Human Desire ◽  
The Mind ◽  
Theoretical Science

David Hoinski and Ronald Polansky’s “The Modern Aristotle: Michael Polanyi’s Search for Truth against Nihilism” shows how the general tendencies of contemporary philosophy of science disclose a return to the Aristotelian emphasis on both the formation of dispositions to know and the role of the mind in theoretical science. Focusing on a comparison of Michael Polanyi and Aristotle, Hoinski and Polansky investigate to what degree Aristotelian thought retains its purchase on reality in the face of the changes wrought by modern science. Polanyi’s approach relies on several Aristotelian assumptions, including the naturalness of the human desire to know, the institutional and personal basis for the accumulation of knowledge, and the endorsement of realism against objectivism. Hoinski and Polansky emphasize the promise of Polanyi’s neo-Aristotelian framework, which argues that science is won through reflection on reality.

Cartesian Fingerprints in Beckett's Imagination Dead Imagine

2012 ◽  
Vol 21 (2) ◽  
pp. 223-243
Author(s):  
Irit Degani-Raz
Keyword(s):  
The Self ◽  
Levels Of Abstraction ◽  
The Media ◽  
The Mind ◽  
Limiting Case

The idea that Beckett investigates in his works the limits of the media he uses has been widely discussed. In this article I examine the fiction Imagination Dead Imagine as a limiting case in Beckett's exploration of limits at large and the limits of the media he uses in particular. Imagination Dead Imagine is shown to be the self-reflexive act of an artist who imaginatively explores the limits of that ultimate medium – the artist's imagination itself. My central aim is to show that various types of structural homologies (at several levels of abstraction) can be discerned between this poetic exploration of the limits of imagination and Cartesian thought. The homologies indicated here transcend what might be termed as ‘Cartesian typical topics’ (such as the mind-body dualism, the cogito, rationalism versus empiricism, etc.). The most important homologies that are indicated here are those existing between the role of imagination in Descartes' thought - an issue that until only a few decades ago was quite neglected, even by Cartesian scholars - and Beckett's perception of imagination. I suggest the use of these homologies as a tool for tracing possible sources of inspiration for Beckett's Imagination Dead Imagine.

Do conhecimento objetivo ao problema corpo - mente

2018 ◽  
Vol 10 (2) ◽  
pp. 85-113
Author(s):  
Nathalia Gleyce dos Santos Salazar
Keyword(s):  
Third World ◽  
Sao Paulo ◽  
Karl Popper ◽  
São Paulo ◽  
Human Beings ◽  
The Third ◽  
Belo Horizonte ◽  
The Third World ◽  
The Mind

Resumo:  Apresenta-se uma discussão sobre o conhecimento e a tese dos três mundos no qual a interação entre estes nos aproxima da verdade do problema corpo-mente, tendo em vista, uma nova proposta de solução. O terceiro mundo é uma peça importante neste trabalho; sendo assim, analisaremos o que Popper designa como Mundo 3, em que ele consiste e o papel da linguagem como diferencial do ser humano. Apresentamos as críticas popperianas às correntes monistas e dualistas, ousando fazer uma crítica a Teoria do Conhecimento tradicional. Desta forma, a proposta apresentada por este filósofo da ciência diferencia-se de tudo que estava sendo feito até então, por isso, o interesse de apresentar essa abordagem pouco trabalhada de Popper. Palavras-chave: Conhecimento. Corpo-Mente. Mundo 3.Abstract: In this work, we present a discussion about knowledge and the theory of the three worlds in which the interaction between them approaches to the truth of the mind-body problem, in view of a proposed solution. The third world is an important piece in this work. Therefore, we will analyze what Popper describes as World 3, what it is and the role of language as a differential of human beings. We present Popper’s criticisms to the monistic and dualistic currents, daring to criticize the theory of traditional knowledge. Thus, the proposal of science presented by this philosopher differs from everything that was being done until then. This explains the interest in presenting this unusual approach to Popper.Keywords: Knowledge. Body-Mind.  World 3. REFERÊNCIASLEAL-TOLEDO, Gustavo . Popper e seu Cérebro. Revista da Faculdade de Letras. Série Filosofia, v. XXIII, p. 59-68, 2007.POPPER, Karl Raimund. A Lógica da Pesquisa Científica. Tradução de Leonidas Hegenberg e Octanny Silveira de Mota.  São Paulo: editora Cultrix. 2007.POPPER, Karl Raimund. Conhecimento Objetivo: uma abordagem evolucionária. Tradução de Milton Amado.  Belo Horizonte, Ed. Itatiaia Ilimitada. São Paulo, Ed. Da Universidade São Paulo, 1975._______.  O Conhecimento e o Problema Corpo –Mente. Tradução Joaquim Alberto Ferreira Gomes. Lisboa, Ed. 70. 1996.   _______. Conjecturas e Refutações: o desenvolvimento do conhecimento científico. Trad. Benedita Bettencourt. Ed. Livraria Almedina, 2006._______.  O Eu e Seu Cérebro. Karl Popper, Jonh C. Eccles;Tradução Silvio Meneses Garcia, Helena Cristina F. Arantes e Aurélio Osmar C. de Oliveira. – Campinas, SP: Papirus; Brasília, DF: Editora Universidade de Brasília. 1991.   _______. O Racionalismo Crítico na Política. Tradução de Maria da Conceição Côrte – Real. Brasília, Editora Universidade de Brasília, 2ª edição, 1994, 74p.SEARLE, John R. La construcción de la realidad social. Trad. Antoni Domènech. Barcelona: Paidós Ibérico, 1995.  

Practical consensus recommendations - Current role of immune response evaluation criteria in solid tumors criteria in the management of cancer patients receiving immunotherapy

2019 ◽  
Vol 4 ◽  
pp. 21-23
Author(s):  
Purvish M. Parikh ◽  
T. P. Sahoo ◽  
Randeep Singh ◽  
Bahl Ankur ◽  
Talvar Vineet ◽  
...  
Keyword(s):  
Immune Response ◽  
Solid Tumors ◽  
Evaluation Criteria ◽  
Supporting Evidence ◽  
Response Evaluation ◽  
Consensus Recommendation ◽  
Current Role ◽  
New Class ◽  
Response Evaluation Criteria

Response evaluation criteria in solid tumors (RECIST) are a method used to evaluate and document the response to cancer treatment in solid tumors. The availability of a new class of immuneoncology drugs has resulted in the need to modify RECIST criteria methodology. The first leadership immuno-oncology network (LION) master course brought together experts in oncology and immuno-oncology. Six questions were put to the experts and their opinion, supporting evidence, and experience were discussed to arrive at a practical consensus recommendation. n this nascent field, the availability of a practical consensus recommendation developed by experts in the field is of immense value to the community oncologist and other health-care consultants.

Hypothetical Role of Growth Factors to Reduce Intervertebral Disc Degeneration Significantly through Trained Biological Transformations

2020 ◽  
Vol 26 ◽  
Author(s):  
Cristian Muresanu ◽  
Siva G. Somasundaram ◽  
Sergey V. Vissarionov ◽  
Liliya V. Gavryushova ◽  
Vladimir N. Nikolenko ◽  
...  
Keyword(s):  
Growth Factors ◽  
Blood Circulation ◽  
Seminal Fluid ◽  
Prostate Gland ◽  
The Body ◽  
Personal Experiences ◽  
Biological Transformation ◽  
The Mind

Background: From the evidence of failed injection-based growth factor therapies, it has been proposed that a naturally triggered uninterrupted blood circulation of the growth factors would be superior. Objective: We seek to stimulate discussions and more research about the possibility of using the already available growth factors found in the prostate gland and endometrium by starting a novel educable physiology, known as biological transformations controlled by the mind. Methods: We summarized the stretch-gated ion channel mechanism of the cell membrane, and offer several practical methods that can be applied by anyone, in order to stimulate and enhance the blood circulation of the growth factors from the seminal fluid to sites throughout the body. This details the practical application of our earlier published studies about biological transformations. Results: A previously reported single-patient case study has been extended, adding more from his personal experiences continually improving this novel physiological training and extending the ideas from our earlier findings in detail. Conclusion: The biological transformation findings demonstrate the need additional research to establish the benefits of these natural therapies to repair and rejuvenate tissues affected by various chronic diseases or aging processes.

Pathya Apathya and role of Dinacharya in Nethra Swasthya

2017 ◽  
Vol 2 (06) ◽  
Author(s):  
Girish S. Varrier ◽  
Ashwini M. J.
Keyword(s):  
Life Style ◽  
Daily Life ◽  
Eye Diseases ◽  
Daily Regimen ◽  
The Mind

The word Chakshu means, that which illuminates the objects and enlightens the mind about its details. It is seated in the two eye balls. When we talk about Pathya and Apathya, the importance of the word Chakshushya is impressed upon. The Pathyas have been explained by different authors in the heading of Chakshushya Vargas and the Apathyas have been explained as Achakshushya. Different Acharyas have also explained about the various daily regimen to be followed for maintaining Nethra Swasthya as Ayurveda gives much importance in maintaining of health and prevention of diseases along with the treatment of diseases. These Dinacharyas can be adopted in our day to day lives to protect the eye from diseases and improve the vision, by implementing improvised techniques tailor-made for day to day activities of present era. The Acharyas have armed us with proper knowledge to prevent and treat life style disorders related to eye diseases through explanation of Pathya Apathya and Dinacharyas which are practices of Kriyakalpas. Most of these practices are not being followed these days which leads to many Nethra Rogas. This can be corrected by re-implementing improvised versions of such practices in our daily life.

Approaches to reforming contemporary religious discourse†

2013 ◽  
Vol 6 (2) ◽  
pp. 172-188
Author(s):  
Ahmad Kamal Abou Al-Majd
Keyword(s):  
Religious Orientation ◽  
Religious Discourse ◽  
Frame Of Reference ◽  
Main Subject ◽  
The Past ◽  
Original Frame ◽  
The Mind ◽  
Working Out

This article attempts to attenuate the exaggerated polarization in contemporary religious discourse in Egyptian society emanating from two flawed positions: a wrong conception of ‘applying Shari'a‘; and a wrong intention whereby deliberate cultural exclusion is practised to eradicate any religious orientation. The main subject of this article are manifestations of deviation of this discourse from the orientation of the original frame of reference of religion: (1) The call for Islam through scaring and intimidation; (2) the tendency to be tough on people, thus increasing obligatory duties and decreasing what is permissible; (3) inattention to the objectives of Shari'a and focusing on its literal aspect; (4) inattention to priorities; (5) belittling the role of the mind in Islamic conceptualization; (6) immersion in the past; and (7) Muslims' relationship with others. Nevertheless, rationalizing ‘religious discourse’ and working out a kind of consensus seems to be of utmost importance.

scholarly journals Current Nanocarrier Strategies Improve Vitamin B12 Pharmacokinetics, Ameliorate Patients’ Lives, and Reduce Costs

Nanomaterials ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 743
Author(s):  
Marco Fidaleo ◽  
Stefano Tacconi ◽  
Carolina Sbarigia ◽  
Daniele Passeri ◽  
Marco Rossi ◽  
...  
Keyword(s):  
Side Effects ◽  
Vitamin B12 ◽  
Memory Performance ◽  
Oral Route ◽  
High Dose ◽  
Human Beings ◽  
Inborn Errors ◽  
Essential Nutrient

Vitamin B12 (VitB12) is a naturally occurring compound produced by microorganisms and an essential nutrient for humans. Several papers highlight the role of VitB12 deficiency in bone and heart health, depression, memory performance, fertility, embryo development, and cancer, while VitB12 treatment is crucial for survival in inborn errors of VitB12 metabolism. VitB12 is administrated through intramuscular injection, thus impacting the patients’ lifestyle, although it is known that oral administration may meet the specific requirement even in the case of malabsorption. Furthermore, the high-dose injection of VitB12 does not ensure a constant dosage, while the oral route allows only 1.2% of the vitamin to be absorbed in human beings. Nanocarriers are promising nanotechnology that can enable therapies to be improved, reducing side effects. Today, nanocarrier strategies applied at VitB12 delivery are at the initial phase and aim to simplify administration, reduce costs, improve pharmacokinetics, and ameliorate the quality of patients’ lives. The safety of nanotechnologies is still under investigation and few treatments involving nanocarriers have been approved, so far. Here, we highlight the role of VitB12 in human metabolism and diseases, and the issues linked to its molecule properties, and discuss how nanocarriers can improve the therapy and supplementation of the vitamin and reduce possible side effects and limits.

scholarly journals Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 479
Author(s):  
Elizabeth L. Lieu ◽  
Neil Kelekar ◽  
Pratibha Bhalla ◽  
Jiyeon Kim
Keyword(s):  
Metabolic Disease ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Treatment Options ◽  
Biochemical Properties ◽  
Biological Molecules ◽  
Diagnostic Tools ◽  
Inborn Errors ◽  
Mannose Metabolism

History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common foods and onto kitchen tables, is sucrose, which is made up of glucose and fructose dimers. While sugar is commonly associated with flavor, there is a myriad of biochemical properties that explain how sugars as biological molecules function in physiological contexts. Substantial research and reviews have been done on the role of glucose in disease. This review aims to describe the role of its isomers, fructose and mannose, in the context of inborn errors of metabolism and other metabolic diseases, such as cancer. While structurally similar, fructose and mannose give rise to very differing biochemical properties and understanding these differences will guide the development of more effective therapies for metabolic disease. We will discuss pathophysiology linked to perturbations in fructose and mannose metabolism, diagnostic tools, and treatment options of the diseases.

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