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Journal articles on the topic 'Mutation of consciousness'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Liu, Changyue, and Wei Yue. "The ATP1A2 Mutation Associated with Hemiplegic Migraines: Case Report and Literature Review." Clinical and Translational Neuroscience 6, no. 4 (2022): 25. http://dx.doi.org/10.3390/ctn6040025.

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Familial hemiplegic migraine type 2 is a premonitory subtype of migraine caused by an ATP1A2 gene mutation. It is an autosomal dominant genetic disease. Here, we report a 51-year-old woman who had a migraine attack due to a pathogenic ATP1A2 gene mutation. With frequent attacks, the patient developed complete left hemiplegia, a confusion of consciousness and partial seizures. Magnetic resonance imaging showed extensive angiogenic edema in the right cerebral hemisphere. In this article, we review the latest literature and try to explain the above symptoms in our patient with cortical spreading

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2

Kholod, Oleksandr. "Multimedia Discourse as an Element of Multiculture." East European Journal of Psycholinguistics 1, no. 1 (2014): 90–97. https://doi.org/10.5281/zenodo.45788.

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<strong>Abstract.</strong> Today it is not enough to determine the degree of the media influence, as we need to find an answer to the question of  how multimedia discourse as an element of multiculture in multisociety (“new electronic culture” –  M. Castells’s term) is associated with transformation (change) of consciousness of society. It is necessary to analyze inmutational and mutational (O. Kholod’s terms) changes in the minds of individuals, who, probably, make unintentional “quiet change” of thought creating and thus – the st

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Martínez, E., R. Moreno, L. López-Mesonero, et al. "Familial Hemiplegic Migraine with Severe Attacks: A New Report withATP1A2Mutation." Case Reports in Neurological Medicine 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/3464285.

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Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described.Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology.Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation. She presented with fev

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Wang, Shiyuan, Jun Li, Ying Li, et al. "Recurrent Cerebral Venous Sinus Thrombosis Occurred in an Acute Lymphoblastic Leukemia Child with Mutated Lipoprotein Lipase Gene during Asparaginase Therapy." Global Medical Genetics 11, no. 03 (2024): 214–19. http://dx.doi.org/10.1055/s-0044-1788043.

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AbstractCerebral venous sinus thrombosis (CVST) and hyperlipidemia are severe complications of L-Asparaginase (L-Asp) during the treatment of B-cell acute lymphoblastic leukemia (B-ALL). Herein, we reported a 9-year-old B-ALL boy who underwent abnormal hypertriglyceridemia and CVST presenting as seizures and disturbance of consciousness twice during the induction therapy. Fortunately, he survived treatment with anticoagulant and lipid-lowering therapy. No thrombophilia-related gene mutation was detected, but a heterozygous mutation in lipoprotein lipase (LPL) gene was identified. His neurologi

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Rispoli, Marianna Gabriella, Vincenzo Di Stefano, Elide Mantuano, and Maria Vittoria De Angelis. "Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine." BMJ Case Reports 12, no. 10 (2019): e231129. http://dx.doi.org/10.1136/bcr-2019-231129.

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Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, d

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DIALLO, SOULEYMANE. "The Islamic Feminism Object-Oriented and The Postcolonial Frameshift Mutation in the Intercommunicating Postmodernism Frame of Reference In Nawal El Saadawi’s The Fall Of The Imam." World Journal of Education and Humanities 6, no. 4 (2024): p22. http://dx.doi.org/10.22158/wjeh.v6n4p22.

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One of the most striking outcomes, one can see through the run of Nawal El Saadawi’s The Fall Of The Imam, is that the feminine reflexive consciousness within the feminine self becomes at the same time, the subject and the object of her inner being, and her straight apperception. Therefore, by moving away from the phallocentric traditional nominalism, the notion of equity that sustains the feminine reflexive consciousness involves a new method of politico-theological discourse and defines a neo-politico-fiction and scientific perception. In this realm, the feminine focus on the essence of al-t

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Paktinat, Mohamad, Kamran Hessami, Soroor Inaloo, et al. "Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy." International Journal of Pediatrics 2021 (March 13, 2021): 1–4. http://dx.doi.org/10.1155/2021/6695119.

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Introduction. Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation. We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. Unlike the siblings, the cousin eventually expired mainly due to the delay in diagnosis, resulting

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Fong, Stephanie, Alistair Scott, and Dora Laczko. "Decreased level of consciousness in a toddler with overgrowth syndrome." University of Western Ontario Medical Journal 86, S1 (2018): 6–8. http://dx.doi.org/10.5206/uwomj.v86is1.2108.

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Physicians caring for patients with rare diseases face unique challenges in managing symptoms, ordering diagnostic tests, and providing patients and families with anticipatory guidance. We describe the case of a toddler with overgrowth syndrome, and previously known ophthalmological and neurological findings, presenting with decreased level of consciousness (LOC) following a fall. We highlight the extensive workup undertaken in a patient with symptoms spanning multiple systems but lacking a unifying diagnosis. In this case, rapid whole exome sequencing identified a de novo CACNA1A gene mutatio

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9

Allen, Nicola, and Gerry Carlin. "From Jefferson Airplane to Starship: Science Fiction, Utopia, and Evolution." Science Fiction Studies 51, no. 2 (2024): 148–73. http://dx.doi.org/10.1353/sfs.2024.a931150.

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ABSTRACT: Paul Kantner's Blows Against the Empire (1970) is the only rock album to have been nominated for a Hugo Award. Kantner's lyrical excursions into SF, as a solo artist and as a member of Jefferson Airplane, are characterized by extensive borrowings of both themes and actual text from writers such as John Wyndham, Robert Heinlein, Theodore Sturgeon, Arthur C. Clarke, and others. Important intellectual fields addressed by sf and West Coast rock thematize unorthodox approaches to evolution. From Darwinian dissenters in the nineteenth century through philosophies of expanded consciousness

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Ivanova, Alina O., Maria I. Yarmolinskaya, and Ekaterina A. Kondratyeva. "The hormonal status and the possibility of predicting outcomes in patients with different types of chronic disorders of consciousness." Journal of obstetrics and women's diseases 72, no. 3 (2023): 39–51. http://dx.doi.org/10.17816/jowd370684.

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BACKGROUND: Chronic disorders of consciousness are rare clinical conditions that develop after coma and are accompanied by the restoration of wakefulness without the full restoration of consciousness 28 days or longer after brain damage. All women with chronic disorders of consciousness have menstrual irregularities such as oligomenorrhea or secondary amenorrhea. Clinical experience shows that recovery of the menstrual response in a number of patients with chronic disorders of consciousness precedes or is combined with recovery of clear consciousness. The results of a comprehensive examination

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Chapman, Stacy, Demitre Serletis, Colin Kazina, et al. "LGG-23. EXCELLENT CLINICAL / RADIOLOGICAL RESPONSE TO BRAF INHIBITION IN A YOUNG CHILD WITH IN-OPERABLE SUPRA-SELLAR PILOCYTIC ASTROCYTOMA." Neuro-Oncology 22, Supplement_3 (2020): iii370—iii371. http://dx.doi.org/10.1093/neuonc/noaa222.405.

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Abstract In-operable low grade gliomas (LGG) in the pediatric population continue to present a treatment dilemma. Due to the low-grade nature of these tumors, and variable response to chemotherapy / radiation, the choice of adjuvant treatment is difficult. Overall survival is directly related to the degree of surgical resection, adding complexity to these inoperable tumors. Current chemotherapeutic regimen for these inoperable tumors includes vincristine (VCR) and carboplatin (Carbo). With advancements in the molecular characterization of gliomas, the role of targeted therapy has come into que

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Kami, Atefe, Alale Langari, Mohammad H. Gharib, Mousa Ghelichi-Ghojogh, Parmis S. Hosseini, and Seyed A. Hosseini. "Leukoencephalopathy with vanishing white matter disease: a case report study." Annals of Medicine & Surgery 85, no. 8 (2023): 4087–91. http://dx.doi.org/10.1097/ms9.0000000000001017.

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Introduction and importance: Vanishing white matter (VWM) is a neurological disorder that has an autosomal recessive mode of inheritance. VWM is caused due to a mutation in in any of the five genes of eukaryotic translation initiation factor 2B (eIF2B). The etiology is unknown. Case presentation: The authors report two cases of VWM disease. In the first case, an 8-month-old female child, brought to the pediatric clinic with seizure and loss of consciousness. The second case was a 24-month-old girl, presented with weakness, a disability to walk and swallow, and poor feeding. Her brain MRI demon

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Chen, Pingrun, Xin Gao, Bin Chen, and Yan Zhang. "Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia." Open Medicine 16, no. 1 (2021): 455–58. http://dx.doi.org/10.1515/med-2021-0235.

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Abstract Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousness and refractory hyperammonaemia. The diagnosis was finally confirmed by gene analysis. The patient recovered after liver transplantation. It can be learned from this case that CD should be considered in patients with refractory hyperammonaemia and paroxysmal mental disorder without a his

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Lu, Jinyu, Gaohua Zhao, Dayao Lv, Lanxiao Cao, and Guohua Zhao. "Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1." Translational Neuroscience 13, no. 1 (2022): 240–45. http://dx.doi.org/10.1515/tnsci-2022-0241.

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Abstract Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by severe sleep-related rigid hypermotor seizures. The pathogenic genes of ADSHE include genes encoding subunits of the neuronal nicotinic acetylcholine receptor, KCNT1, DEPDC5, NPRL2/3, CABP4, and CRH. Individuals with KCNT1-related ADSHE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems. In this study, a 12-year-old Chinese girl was referred for genetic evaluation of grand mal seizures. She had paroxysmal convulsions of the lim

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Garcia-Bermúdez, Míriam, Abdel-Hakim Moustafa, Antonio Barrós-Membrilla, and Helena Tizón-Marcos. "Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection." Canadian Journal of Cardiology 33, no. 2 (2017): 292.e1–292.e3. http://dx.doi.org/10.1016/j.cjca.2016.09.004.

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Lopes, Bruna Marques, Rafaela Farias Vidigal Nascimento, Camilla Caetano Alves da Motta, et al. "Myoclonus-dystonia syndrome due to GNAO1 mutation: a case report." Revista de Medicina 100, esp (2021): 21. http://dx.doi.org/10.11606/issn.1679-9836.v100iespp21-21.

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Introduction: Myoclonus-dystonia syndrome (MDS) is an autosomal-dominant movement disorder characterized by childhood-onset myoclonic jerks and dystonic symptoms. The estimated prevalence for MDS is 1/500.000 and usually it is associated with mutations in the epsilon-sarcoglycan (SGCE) gene. One rarer genetic cause for MDS is the GNAO1 mutation. Cytogenetically located on 16q13, this gene encodes a specific subclass of G protein, a signal-transducing molecule important to the central and peripheral nervous system. This heterotrimeric guanine nucleotide-binding protein is composed of alpha, bet

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Markasov, M. Yu. "Persona of Modern Media: Mayakovsky through the Eyes of “Post-Science” and Mass Culture." Vestnik NSU. Series: History and Philology 21, no. 6 (2022): 99–108. http://dx.doi.org/10.25205/1818-7919-2022-21-6-99-108.

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The article studies the issue of popularization of scientific knowledge that forms its own media sphere, and their transmedia “mutation”. The article examines Vladimir Mayakovsky’s characters and related myths: “lover”, “suicide”, “propagandist”, “rebel”, etc. It is noted that a historical or literary persona, depending on the era or political situation, freely changes its axiological status. Currently, Mayakovsky is a meme, a template, a sign that expresses modern stereotypes of mass consciousness. The article talks about such media and media platforms as “Arzamas”, “Russian Seven”, “Yandex.Z

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Taheri, Mohammad Ali, Sara Torabi, and Farid Semsarha. "Screening the Effect of Faradarmani Consciousness Field on the Ex vivo Controlled Microenvironment on Solid 4T1 Tumors." Scientific Journal of Cosmointel 1, no. 6 (2022): 46–53. http://dx.doi.org/10.61450/joci.v1i6.55.

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Personalized cancer medicine is currently focused on knowledge of the cancer mutation repertoire and the tailored application of drugs that targets altered genes or pathways in individual patients. Thus, a critical need exists for more sophisticated ex vivo diagnostic methods that recapitulate human tumor biology and predict response to the targeted and immune-based therapies in real-time. Taheri Consciousness Fields are immaterial, and non-energetic fields and their influence on the world of matter and energy has been observed in several biological and physical studies. In the present study,

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Shafeghat, Melika, Hossein Esmaeilzadeh, Mona Sadeghalvad, et al. "A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations." Allergologia et Immunopathologia 49, no. 4 (2021): 91–97. http://dx.doi.org/10.15586/aei.v49i4.194.

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Introduction and objectives: Severe combined immunodeficiency (SCID) is a subset of primary immunodeficiency diseases caused by a hereditary deficiency of the adaptive immune system. Mutation in recombination activating gene (RAG) is known as the underlying genetic cause of SCID. RAG protein plays a pivotal role in V(D)J recombination which is the main process to assemble lymphocyte antigen receptors during T- and B-cell development. The patients are characterized by recurrent infections, failure to thrive, chronic diarrhea, and fever, in early infancy. Herein, we present a case of SCID with r

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Suzuki, Tomonari, reina mizuno, mitsuaki shirahata, et al. "10249-PEDT-8 CURRENT STATUS AND ISSUES OF PEDIATRIC DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG)." Neuro-Oncology Advances 5, Supplement_5 (2023): v23—v24. http://dx.doi.org/10.1093/noajnl/vdad141.094.

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Abstract that predominantly occurs in childhood, with a median survival of less than one year. Herein we present a recent case of DIPG and discuss the current status and future challenges. The patient was a 7-year-old boy who complained of tinnitus, headaches, and unstable gait. The MRI showed diffuse enlargement of the pons, and the contrast-enhanced T1-weighted image exhibited an irregular ring-like enhancement. Neurologically, he presented with left abducens nerve palsy, horizontal gaze nystagmus, significant left ataxia, and truncal ataxia. As the lesion extended to the left cerebellar ped

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Hamza, Ashique, N. C. Krishnadas, Sachin Sureshbabu, and Poornima Narayanan. "A Rare Case of Paroxysmal Kinesigenic Dyskinesia with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay." Indian Journal of Medical Specialities 15, no. 4 (2024): 277–78. http://dx.doi.org/10.4103/injms.injms_49_24.

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Abstract Paroxysmal kinesigenic dyskinesia (PKD) represents a rare subset of movement disorders characterized by involuntary movements triggered by sudden voluntary actions, without loss of consciousness. Typically manifesting in the first or second decade of life, PKD can present as either familial or sporadic, with the most common mutation identified in familial cases being in the proline-rich transmembrane protein 2 gene. This abstract presents a unique case of PKD accompanied by a progressive spastic ataxic syndrome in a 17-year-old male with a history of consanguinity. The patient exhibit

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Ekici, Elif Esin, and Kürşat Bora Çarman. "Consciousness Deterioration After Minor Head Trauma in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cysts." Medical Science and Discovery 12, no. 3 (2025): 65–66. https://doi.org/10.36472/msd.v12i3.1263.

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Dear Editor, Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly, progressive motor disability, seizures, mild cognitive impairment, and distinctive brain MRI findings. Characteristic cranial MRI features include diffuse, bilateral, and symmetrical T2-weighted hyperintensity and T1-weighted hypointensity in the cerebral white matter, accompanied by subcortical cysts. MLC is caused by mutations in the MLC1 gene. Clinical manifestations may include spasticity, ataxia, dystonia, athetosis, dysarthria, dysphagia, and epilepsy. Whi

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Nugraheni, Agnes Indah, Ketut Ratna Dewi Wijayanti, and I. Wayan Losen Adnyana. "Essential Thrombocythemia in Pregnancy: A Case Report." European Journal of Medical and Health Sciences 5, no. 6 (2023): 22–26. http://dx.doi.org/10.24018/ejmed.2023.5.6.1978.

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Essential thrombocythemia is a hematological problem that occurs during pregnancy. Diagnosis of essential thrombocythemia is difficult because it is a diagnosis of exclusion and there is a higher frequency of thrombocythemia due to other causes. A 26-year-old female patient with G1P0000 gestational weeks 30–31 came to the gynecology clinic after laboratory examination with thrombocyte count of 1,128,000 μL. There were no complaints of dizziness, nausea, vomiting, tingling, or fever. She was fatigue with compos mentis consciousness, with blood pressure 110/70 mmHg, heart rate 85 times/minute, r

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Eoli, M., B. Pollo, A. Silvani, et al. "P14.74 Remarkable response to Combined BRAF and MEK Inhibitors in two Adults with leptomeningeal carcinomatosis secondary to Pleomorphic Xantoastrocytoma grade II with BRAFv600E mutation." Neuro-Oncology 21, Supplement_3 (2019): iii85. http://dx.doi.org/10.1093/neuonc/noz126.309.

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Abstract BACKGROUND Several cancers with the BRAF V600E mutations have been successfully treated with targeted therapy. Pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor, with an incidence of 0.07cases per 100,000. The BRAFV600 mutation is present in 38–60% of PXA. Typical treatment is gross total resection, followed by radiotherapy and cytotoxic chemotherapy at recurrence MATERIAL AND METHODS Two cases are described. RESULTS The first case is a 37 old man with a left temporal lobe lesion who underwent a craniotomy with total tumor resection. Histological diagnosis was PXA WHO grade 2w

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Cordani, Ramona, Livia Pisciotta, Maria Margherita Mancardi, et al. "Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review." Neuropediatrics 53, no. 01 (2021): 069–74. http://dx.doi.org/10.1055/s-0041-1739132.

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AbstractAlternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all

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Kosteniuk, Suzanne Elizabeth, George Michaiel, and Christopher Dunham. "A Case of Primary Intracranial Sarcoma, DICER1-Mutant, in a Child with a Germline DICER1 Mutation." Brain Sciences 13, no. 7 (2023): 1040. http://dx.doi.org/10.3390/brainsci13071040.

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DICER1 syndrome is a tumor predisposition syndrome caused by abnormal micro-RNA processing which leads to a variety of benign and malignant neoplasms in many organ systems, including the central nervous system. This paper reports the case of a primary intracranial sarcoma, DICER1-mutant, in a patient with a germline DICER1 variant thought most likely to be de novo. The patient is a ten-year-old boy who presented acutely with altered level of consciousness, emesis, and left-sided weakness. Imaging revealed a large right frontal hemorrhagic lesion, which was urgently debulked. Histology demonstr

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Georgiev, Antonio, Elena Grueva, Goran Mitevski, Robert Nikolovski, Filip Janusevski, and Dejan Risteski. "Genetically Associated Hypertrophic Cardiomyopathy Combined with Persistent Left Superior Vena Cava." International Journal of Scientific Research and Management 11, no. 01 (2023): 786–90. http://dx.doi.org/10.18535/ijsrm/v11i01.mp02.

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Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. An implantable cardioverter defibrillator (ICD) is an efficient way of preventing sudden cardiac death in these patients. Aim: Diagnosis and treatment of genetically associated hypertrophic cardiomyopathy. Case Report: We present a 28-year patient with a history of tachycardia, dizziness, transient chest pains, and anamnestic information on episodes of short-term loss of consciousness and fatigue. She has a positive family history of HCM and her uncle died young from sudden cardiac death (SCD

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Drăghici, Virgil. "“The Object, Between Transcedental Phenomenology and Empiricist Realism”." SAECULUM 52, no. 2 (2021): 15–25. http://dx.doi.org/10.2478/saec-2021-0014.

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Abstract If in Kants Kritik der reinen Vernunft the transcendental conditions of possibility of experience transcends the experience itself (sect.1), by Husserl these conditions become immanent to the experience itself and therefore knowable by experience (sect.2). This radical mutation introduces an ambivalence in Husserls phenomenology: that between the absolute character of transcendental subjectivity, an idealistic thesis according to which something is an object of the real world only if it is legitimated in the consciousness (sect.3), and the empiricist thesis of identification of the re

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Scott, Emma C., Jeffrey Cohn, and Stephen Heitner. "A Case Illustrating That Cancer Tips the Scale of Thrombosis." Blood 106, no. 11 (2005): 4128. http://dx.doi.org/10.1182/blood.v106.11.4128.4128.

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Abstract Background: There are many causes of thrombosis in cancer, including cancer itself, the release of TNF, IL-1 &IL-6 causing endothelial damage, the interaction between tumor cells and macrophages activates platelets, factors X11 &X. Cysteine proteases &tissue factor, in the tumor cells have pro-coagulant activity (Bick, R. New Engl J of Med. Volume 349. July 2003). Chemotherapy, hormonal therapy and indwelling central venous catheters also increase the risk of thrombosis. There is a RR of 4.1 for patients with cancer who did not have chemotherapy and 6.5 for patients with c

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HASHIDA, Tetsu, Masanobu YAMADA, Koshi HASHIMOTO, et al. "Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene." Endocrine Journal 53, no. 6 (2006): 859–63. http://dx.doi.org/10.1507/endocrj.k06-076.

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Martin, Ellen. "Metaphysical Gap: A Critical Analysis of the Idea of a Technological Singularity." Vestnik of Northern (Arctic) Federal University. Series Humanitarian and Social Sciences, no. 2 (April 20, 2023): 112–22. http://dx.doi.org/10.37482/2687-1505-v247.

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The next stage in the development of human history is often described by futurists and the proponents of transhumanism as a global technological singularity. The main objective of this paper is to show that the idea of the possibility of a technological singularity is a result of the total dependence of mankind on technology, which caused the metaphysical mutation of consciousness. The article examines the concept of technological singularity, according to which, the exponential growth of artificial intelligence and nanotechnologies will usher in a moment of irreversible change for humanity. T

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Taheri, Mohammad Ali, Laleh Amani, Ahmad Khalili, Ali Zaman Vaziri, and Hossein Keyvani. "Effect of the Faradarmani Consciousness Field on Mutant Strain of SARS-CoV-2." Scientific Journal of Cosmointel 1, no. 1 (2022): 8–13. http://dx.doi.org/10.61450/joci.v1i1.9.

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The COVID-19 pandemic is still a threat to global health. In late 2020, the rapid emergence of SARS-CoV-2 mutant strains was reported, raising concerns in the prevention and treatment of COVID-19. SARS-CoV-2 that encoded a D614G mutation in the viral spike (S) protein predominated globally and this change increased virus transmission. Furthermore, the false-negative results from respiratory specimens are one of the problems in the detection of COVID-19. The Taheri Consciousness Fields (TCFs) introduced by Mohammad Ali Taheri, is a novel field that is neither matter nor energy. Therefore, it is

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Pelzer, Nadine, Evelien S. Hoogeveen, Michel D. Ferrari, Bwee Tien Poll-The, Mark C. Kruit, and Gisela M. Terwindt. "Brain atrophy following hemiplegic migraine attacks." Cephalalgia 38, no. 6 (2017): 1199–202. http://dx.doi.org/10.1177/0333102417723569.

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Background Patients with hemiplegic migraine (HM) may sometimes develop progressive neurological deterioration of which the pathophysiology is unknown. Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine severe HM attacks associated with seizures and decreased consciousness between the ages of 3 and 12 years. Results Repeated ictal and postictal neuroimaging revealed cytotoxic oedema during severe HM attacks in the symptomatic hemisphere, which later showed atrophic changes. In addition, progressive c

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K.C., Sarjan, Anjana Bohaju, Sunil Raja Manandhar, Anup Shrestha, Erika Aryal, and Pradeep Maharjan. "Tuberous Sclerosis Complex in a 17-month-old: A Case Report." Journal of Nepal Medical Association 61, no. 262 (2023): 562–65. http://dx.doi.org/10.31729/jnma.8172.

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Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e. Tuberous Sclerosis Complex 1 or Tuberous Sclerosis Complex 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of the mammalian target of the rapamycin signalling pathway. It presents with a triad of facial angiofibroma, intellectual disability, and epilepsy. We present a case of a 17-month female toddler with abnormal body movement with

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Sangatsuda, Yoko, Masayuki Nakamura, Akiyuki Tomiyasu, et al. "Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances." Mitochondrion 12, no. 6 (2012): 617–22. http://dx.doi.org/10.1016/j.mito.2012.10.002.

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Woyach, Jennifer A., Danielle M. Brander, Boyu Hu, et al. "LP-168 (Rocbrutinib), a Novel Covalent and Non-Covalent Next-Generation Inhibitor of Bruton's Tyrosine Kinase: Updates on the Phase 1 Trial and Initial Results of the CLL Gatekeeper Mutation Cohort." Blood 144, Supplement 1 (2024): 4622. https://doi.org/10.1182/blood-2024-205775.

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Introduction: Covalent Bruton's Tyrosine Kinase inhibitors (cBTKi) and non-covalent BTKi (ncBTKi) have been transformative for the treatment of chronic lymphocytic leukemia (CLL). However, second-site T474 gatekeeper mutations (GM) have been commonly observed in patients (pts) resistant to ncBTKi such as pirtobrutinib. LP-168 (rocbrutinib) is a selective next generation inhibitor of BTK that targets wild type (WT) BTK irreversibly, C481 mutant BTK (C481S, C481F and C481R) reversibly, and other non-C481 mutations such as gatekeeper mutation T474I irreversibly, with preclinical activities in C48

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Zhou, Tiannan, Huixian Wei, and Jinjun Wang. "Research experimental design for the construction and identification of the pGEX-BCKD-E4A recombinant point-mutant plasmid." PLOS ONE 18, no. 2 (2023): e0279431. http://dx.doi.org/10.1371/journal.pone.0279431.

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Primary biliary cirrhosis (PBC) is an organ-specific autoimmune disease that eventually develops into cirrhosis and even liver cancer. In recent years, the incidence rate has been increasing, and the early diagnosis and treatment of PBC are crucial. In the early diagnosis method of PBC, anti-mitochondrial antibodies (AMAs) are an important diagnostic basis, especially the M2 subtype (AMA-M2) with almost 100% specificity. We selected the BCOADC-E2 protein, a mitochondrial autoantigen that reacts specifically with AMA-M2 antibodies, and carried out DNA recombination and protein mutation experime

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Dobrescu, Caius. "Drums of Doubt: On the Rhythmical Origins of Poetic and Scientific Exploration." Hungarian Studies Yearbook 1, no. 1 (2019): 67–81. http://dx.doi.org/10.2478/hsy-2019-0006.

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Abstract In his article “Drums of Doubt: On the Rhythmical Origins of Poetic and Scientific Exploration” Caius Dobrescu argues that even though the sciences and arts of doubt have never been connected to the notion of rhythm, doubt is a form of energy, and more specifically, a form of vibration. It implies an exploratory movement that constantly expands and recoils in a space essentially experienced as uncharted territory. Poetry acquires cognitive attributes through oscillatory rhythmic patterns that are explorative and adaptive. In order to test this hypothesis, the essay focuses on the natu

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Phillips, John W. P. "Force and Vulnerability in Philosophy and Science." Cultural Politics 11, no. 2 (2015): 145–61. http://dx.doi.org/10.1215/17432197-2895723.

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Taking as a starting point the challenge in finding ways of treating autoimmune disorders, this article constructs a hypothetical frame for enquiry that explores the connections between bioscience and, in a different register, the techniques of cultural memory. Putting the question of the long development and inheritance of immune functions (phylogenesis) in touch with that of cultural inheritance (epiphylogenesis), the article questions lines of continuity between somatic mutation, consciousness, technics, time, and media. For instance, drawing on a tradition that acknowledges Immanuel Kant,

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Wang, Hui, Changguo Shan, Weiping Hong, Lei Wen, Mingyao Lai, and Linbo Cai. "LMD-06. A NSCLC patient with leptomeningeal metastasis harboring rare EGFR mutations G719S and L861Q benefited from doubling dosage of osimertinib: a case report." Neuro-Oncology Advances 3, Supplement_3 (2021): iii8. http://dx.doi.org/10.1093/noajnl/vdab071.031.

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Abstract Leptomeningeal metastasis (LM) is a rare but lethal complication of advanced non-small cell lung cancer (NSCLC) that has a devastating impact on patient survival and quality of life. Osimertinib, an irreversible tyrosine kinase inhibitor, is approved as a therapy for advanced NSCLC with epidermal growth factor receptor (EGFR) mutation. However, the efficacy and optimal dosage of osimertinib in the treatment of NSCLC patients with LM who harbor uncommon EGFR mutations have yet to be fully investigated. Herein, we report a case of an advanced NSCLC patient with LM carrying EGFR G719S an

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., Usmanullah, Ajmal Khan Bazai, Abdul Wadood Kakar, Muhammad Hanif, Shazia Ramzan, and Jamshed Khan. "Prevalence of Epilepsy with Autosomal Recessive Intellectual Disability in Consanguineous Families." Pakistan Journal of Medical and Health Sciences 16, no. 4 (2022): 1195–97. http://dx.doi.org/10.53350/pjmhs221641195.

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Background: Intellectual disability (I.D) is the limitation of cognitive impairment and decreased ability of learning of a person. It is a type of neurological genetic disease, which results in incomplete or retarded/ arrested development of the brain. I.D is one of the most common health problem worldwide. These patients have decreased intellectual functions and at least limitation in their two adoptive skills such as writing or reading abilities, communication ability and self-care etc. While epilepsy is a neurodevelopment disease presented as abrupt & episodic recurrence of sensory dist

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Edwards, Leon S., Gabor M. Halmagyi, Michael H. Barnett, Christopher A. Blair, and Matthew C. Kiernan. "091 Cerebellar oedema in fulminant adult leigh syndrome." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (2019): A29.2—A29. http://dx.doi.org/10.1136/jnnp-2019-anzan.79.

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IntroductionWe report a case of adult Leigh syndrome resulting in rapidly fatal cerebellar oedema.CaseA 19-year-old female presented with a five-week history of hyperventilation, generalised weakness, dysarthria and bilateral ptosis. Brain Magnetic resonance imaging (MRI) findings and the presence of a mitochondrial mutation (NC_012920.1(MT-ATP6):m.9176T>C) in blood and urine with approximately 97% heteroplasmy, confirmed a diagnosis of Leigh syndrome.Two-days after a normal lumbar puncture, opening pressure 8cm water, her conscious level rapidly declined. CT revealed marked cerebellar oede

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Zhen, Junjie, Mingyao Lai, Jiangfen Zhou, Shaoqun Li, and Linbo Cai. "PATH-12. CLINICAL AND PATHOLOGICAL ANALYSIS OF 43 PATIENTS WITH EPITHELIOID GLIOBLASTOMA." Neuro-Oncology 23, Supplement_6 (2021): vi117. http://dx.doi.org/10.1093/neuonc/noab196.464.

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Abstract BACKGROUND AND PURPOSE Epithelioid glioblastoma (eGBM) is a rare and aggressive subtype of glioblastoma. The clinical characteristics, pathological features and radiological findingsare still not well characterized. METHODS The clinical data of 43 patients with eGBM confirmed pathologically after surgery in Guangdong Sanjiu Brain Hospital from June 2015 to January 2021 were reviewed, and to investigate the clinical, pathological and imaging characteristics of the eGBM. RESULTS The range of patients' age was from 5 to 70 years (median 39 years). There were 24 males and 19 females. The

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Mariana Catalina Garcini, Sandoval, Zúñiga Enrique Espinosa, and Toribio Martha Guadalupe García. "Update in the Understanding, Diagnosis, and Management of Sturge Weber Syndrome: Case Report." Journal of Neuroscience and Neurological Disorders 7, no. 2 (2023): 061–64. http://dx.doi.org/10.29328/journal.jnnd.1001080.

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Sturge-Weber Syndrome (SWS) is a congenital, vascular, neurocutaneous, uncommon disease associated with facial angiomas port wine birthmark (PWB) or “nevus flammeus”, cerebral vascularity alterations (leptomeningeal vascular malformation), and ocular disorders. It is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. GNAQ R183Q is the most frequent related mutation, caused by a postzygotic, somatic, gain-of-function. 75% of patients present seizures during the first year of life, mainly focal motor seizures, with or without consciousness impairment. W

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Kostrouch, Zdenek. "The Power of Informatics." Folia Biologica 53, no. 6 (2007): 193. https://doi.org/10.14712/fb2007053060193.

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The wide access to the information pool gathered by human society is probably the most characteristic feature that distinguishes our present time from the not so distant past. The unprecedented access to information from all thinkable fields communicated by the Internet and the shift in formal education towards natural sciences and engineering makes topics that used to be exclusive for small groups of specialists accessible to the wide public. On the other hand, because of the extent and depth that one is able to find about a single topic, a feeling that all topics are beyond the actual person

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Ammendola, Jacopo. "Building as a Verb." Journal of Public Space, Vol. 4 n. 3 (November 30, 2019): 7–40. http://dx.doi.org/10.32891/jps.v4i3.1219.

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This paper describes the approach of architecture/urbanism practice and research workshop “orizzontale”, based in Rome, Italy. The approach of the group is heuristic: it is to get involved, to put themselves on the line, to “play the game”. As a machine that absorbs and transforms every kind of things, orizzontale has a clear attitude for mutation over production. The act of building things is a primary tool the group uses to build communities, link them together and create confidence in the idea of a better society. Experimental does not mean “avant-garde” but rather “empirical, exploratory,

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Zhu, Anqi. "Integrating Regional Culture into Public Art within the Metro Public Space." Highlights in Art and Design 4, no. 3 (2023): 100–103. http://dx.doi.org/10.54097/e75793jp.

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Chinese artists with the development of China's economy and the accelerated construction of urbanization, public art expresses the collective consciousness and mainstream emotions in the process of China's social development. Seeking to express the revival and mutation of traditional culture in a proper artistic language, people hope to express their aspirations for the times through public art. China's urban subway public art is a typical manifestation of public art in the current stage of China's development, and has traveled with every important period of China's reform process, recording t

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Djuric, Gordana, Marina Svetel, Eleonora Dzoljic, and Vladimir Kostic. "Dopa-responsive dystonia." Vojnosanitetski pregled 66, no. 1 (2009): 29–34. http://dx.doi.org/10.2298/vsp0901029d.

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Backgrround/Aim. Dystonia is considered to be a prolonged involuntary contractions of the muscles leading to twisting, repetitive movements or irregular postures. Etiologically, it could be classified as primary and secondary dystonia. Dopa-responsive dystonia (DRD) belongs to a group of primary dystonia. The aim of this study was to detect the presence of gene GCH-I mutation in our population in patients with dopa-responsive dystonic dyskinesia and to analyze clinical specificity of the affected. Methods. Out of the group of patients with dystonia of different distribution four patients were

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Pelzer, N., DE Blom, AH Stam, et al. "Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation." Cephalalgia 37, no. 8 (2016): 737–55. http://dx.doi.org/10.1177/0333102416651284.

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Background Familial hemiplegic migraine (FHM) is a rare monogenic migraine subtype characterised by attacks associated with transient motor weakness. Clinical information is mainly based on reports of small families with only short follow-up. Here, we document a prospective 15-year follow-up of an extended family with FHM type 2. Patients and methods After diagnosing FHM in a patient with severe attacks associated with coma and fever, we identified eight more family members with FHM and one with possible FHM. All family members were prospectively followed for 15 years. In total 13 clinically a

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Zuo, Jiankai, and Yaying Zhang. "A hybrid evolutionary learning classification for robot ground pattern recognition." Journal of Intelligent & Fuzzy Systems 40, no. 5 (2021): 10129–43. http://dx.doi.org/10.3233/jifs-202940.

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In the field of intelligent robot engineering, whether it is humanoid, bionic or vehicle robots, the driving forms of standing, moving and walking, and the consciousness discrimination of the environment in which they are located have always been the focus and difficulty of research. Based on such problems, Naive Bayes Classifier (NBC), Support Vector Machine(SVM), k-Nearest-Neighbor (KNN), Decision Tree (DT), Random Forest (RF) and eXtreme Gradient Boosting (XGBoost) were introduced to conduct experiments. The six individual classifiers have an obvious effect on a particular type of ground, b

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