scholarly journals Dying to Fall Asleep

2019 ◽  
pp. 724-742
Author(s):  
Jessica Vensel Rundo ◽  
Hillor Mehta ◽  
Reena Mehra
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Genetic Analysis ◽  
Genetic Disease ◽  
Prion Proteins ◽  
Amyloid Plaques ◽  
Definitive Diagnosis ◽  
Common Features ◽  
The Central Nervous System ◽  
Autonomic Hyperactivity

Fatal familial insomnia (FFI) is a rare autosomal dominant genetic disease characterized by progressive insomnia, autonomic hyperactivity, memory deficits, hallucinations, and myoclonus. Unlike its name, insomnia is not the most common initial presentation in patients with FFI. More common features like autonomic hyperactivity (hypertension and tachycardia) are often missed, delaying the diagnosis of FFI. Genetic analysis of FFI shows a D178N-129M mutation that results in generation of insoluble proteins (prion proteins) that aggregate to form amyloid plaques, leading to deterioration of the central nervous system, particularly in the hypothalamus. This case illustrates the difficulty in determining a definitive diagnosis in patients with FFI. Unfortunately, no treatment or cure is available for FFI. The disease is fatal in all the patients.

Degeneration of skeletal muscle, peripheral nerves, and the central nervous system in transgenic mice overexpressing wild-type prion proteins

Cell ◽  
1994 ◽  
Vol 76 (1) ◽  
pp. 117-129 ◽  
Author(s):  
David Westaway ◽  
Stephen J. DeArmond ◽  
Juliana Cayetano-Canlas ◽  
Darlene Groth ◽  
Dallas Foster ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Central Nervous System ◽  
Nervous System ◽  
Transgenic Mice ◽  
Peripheral Nerves ◽  
Prion Proteins ◽  
Wild Type ◽  
The Central Nervous System

scholarly journals A Neurocosmological Neurotheology Organized Around Reissner’s Fiber

2018 ◽  
Vol 1 (1) ◽  
pp. 56-65
Author(s):  
Lawrence Wile
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Genetic Analysis ◽  
Central Axis ◽  
Religious Experiences ◽  
Reissner's Fiber ◽  
Scientific Rigor ◽  
New Approach ◽  
Reissner’S Fiber ◽  
The Central Nervous System

Neurotheology is the study of the neurobiological correlates of religious experiences. A key problem for this nascent field is that interpretations of religious experiences range from a regression to the oceanic oneness of the womb to supersensory apprehensions of transcendent realities. Identifying appropriate subjects is therefore problematic. Correlating the complex array of neurobiological data obtained from neuroimaging, genetic analysis and lab tests with such elusive “religious experiences” offers little hope of scientific rigor. This paper proposes a new approach. Mystical traditions have consistently described a “subtle anatomy” organized around a circuit running through the center of the spine that connects the human and the divine. If descriptions of this circuit are based on actual interoceptions, then it corresponds to a little-known, epigenetically suppressed structure that ensheathes the central axis of the central nervous system; Reissner’s fiber (RF). Rather than identifying subjects based on self-reporting and correlating their experiences with an array of neurobiological data, this new approach would regenerate the fiber, measure its activity and explore possible correlations with religious experiences.

scholarly journals Spectrum of neurovascular complications from central nervous system infections (viral, bacterial and fungal)

BJR|Open ◽  
2019 ◽  
Vol 1 (1) ◽  
pp. bjro.20180024 ◽  
Author(s):  
Christine Tang ◽  
Nikhil Kaushik Patel ◽  
Robert Miller ◽  
Timothy Beale ◽  
Harpreet Hyare
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Fungal Infections ◽  
Imaging Features ◽  
Central Nervous System Infections ◽  
Common Features ◽  
Pictorial Review ◽  
The Central Nervous System ◽  
Potential Mode ◽  
Infectious Organism

In the following pictorial review, common and uncommon neurovascular complications associated with a spectrum of viral, bacterial and fungal infections involving the central nervous system will be illustrated. These complications include cerebral vascular insult, venous thrombosis, vasculitis and aneurysm formation. They can occur as separate entities but are often inter-related. The imaging features of neurovascular complication related to infections can provide clues and aid diagnosis when considering the potential mode of infectious spread and the type of potential infectious organism involved. The radiological appearances vary from common features that are shared by several types of pathogens to typical characteristics of a type of infectious organism.

scholarly journals Intracranial actinomycosis: case report and review of literature

2017 ◽  
Vol 31 (2) ◽  
pp. 248-252
Author(s):  
Alfonso Pacheco-Hernandez ◽  
Jorque Aquino-Matus ◽  
Willem Guillermo Calderon-Miranda ◽  
Jean Carlos Pinto-Angarita ◽  
Ronsangela Ramirez-Barranco ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Magnetic Resonance ◽  
Definitive Diagnosis ◽  
Review Of Literature ◽  
Infection Treatment ◽  
The Central Nervous System ◽  
Actinomyces Infection ◽  
The Brain

Abstract Actinomycosis infection is a slow progressing disease, in which involvment of the central nervous system by Actinomyces israelii is uncommon (less than 5%). Clinical picture is non-specific and is often misdiagnosed with neoplasia; some clinical clues my arise suspicion. The case of a 59 year-old female is reported who presented headache and focal neurologic signs and in whom a out-of the hospital diagnosis of a neuroepitelial dysembryoplastic tumor was made; nonetheless after careful interview and physical exploration, a spectroscopy magnetic resonance of the brain and hystopathological description of the lesion was made and yielded the definitive diagnosis of intracranial actinomyces infection. Treatment and progression were uneventful.

Solitary pituitary sarcoidosis with normal endocrine function

2008 ◽  
Vol 108 (3) ◽  
pp. 591-594 ◽  
Author(s):  
Promod Pillai ◽  
Abhik Ray-Chaudhury ◽  
Mario Ammirati ◽  
E. Antonio Chiocca
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Biopsy Specimen ◽  
English Literature ◽  
Systemic Disease ◽  
Definitive Diagnosis ◽  
Endocrine Function ◽  
Granulomatous Disease ◽  
Cns Involvement ◽  
The Central Nervous System

✓ Sarcoidosis is a multisystemic granulomatous disease characterized by noncaseating epithelioid granulomata that affects the lung in over 90% of patients and the central nervous system (CNS) in 5–9%. Neurosarcoidosis often occurs as multifocal meningeal and parenchymal lesions, and its diagnosis is particularly difficult in the absence of concomitant systemic disease. Hypothalamic-pituitary sarcoidosis occurs in fewer than 10% of patients with neurosarcoidosis and has been previously reported in association with profound endocrinological dysfunction. The authors report the case of a patient with isolated pituitary sarcoidosis who was first evaluated for visual symptoms and showed no preoperative endocrinological dysfunction or evidence of multisystemic or other CNS involvement. To the authors' knowledge, only 1 other such presentation is previously reported in the English literature. Such presentations are diagnostically and therapeutically challenging, and definitive diagnosis requires obtaining a biopsy specimen of the lesion with histological proof of noncaseating epithelioid granuloma, as well as the exclusion of other possible entities.

scholarly journals Amyloidosis of the central nervous system: common features of various diseases

2019 ◽  
Vol 27 (2 (99)) ◽  
pp. 15-19
Author(s):  
Serhii Silonov ◽  
Ivan Zinych
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Protein Misfolding ◽  
Molecular Mechanisms ◽  
Pathological Process ◽  
Essential Condition ◽  
Common Features ◽  
Mechanisms Of Formation ◽  
The Central Nervous System ◽  
Misfolding Diseases

The elucidation of the molecular mechanisms of the pathological process is an essential condition for the effective therapy and prevention of the disease. During the last decades the medical and social problems caused by so-called misfolding diseases were becoming acute increasingly. Among such diseases a special place belongs to Alzheimer’s, Parkinson’s and Creutzfeldtd — Jakob’s diseases, which are related to the amyloidosis of the central nervous system. All of them are characterized by progressive and irreversible degeneration of brain tissue, which is associated with the deposition of β-structured protein aggregates and the death of nerve cells. Scientifi c achievements of the recent years reveal the general features of the mechanisms of formation and course of these diseases, substantiate the provision on the formation of the embryo of protein aggregation as a key process that leads the course of the disease to a qualitatively new, irreversibly progressive level. Key words: central nervous system, neurodegenerative diseases, protein misfolding, amyloidosis

scholarly journals Determinant genes that effect the central nervous system and their antenatal identification

2020 ◽  
Vol 9 (11) ◽  
pp. 4612
Author(s):  
Christy Vijay ◽  
Preetha Tilak
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Genetic Analysis ◽  
Complex Structure ◽  
Genetic Mutation ◽  
Temporal Region ◽  
Genetic Syndromes ◽  
Mri Findings ◽  
Diagnostic Center ◽  
The Central Nervous System

Background: The central nervous system is an intricate networking of electric signals that intertwines the functioning of all senses of speech, thoughts etc. A genetic mutation in this complex structure is known to cause many neurological diseases.Methods: Records of the genetic analysis reports of patients were studied. Patients with CNS genetic syndromes or tubulinopathies in fetus of the present pregnancy or previous pregnancy who presented themselves only for genetic counseling with the genetic analysis report done at an outside diagnostic center were selected.Results: Ten patients presented with history congenital abnormalities of the structure of the central nervous system in pregnancy. Non-invasive investigations in the first child led to the need for genetic analysis of the present foetus. EEG showing independent S2 foci and left central parietal and right temporal region with bilateral synchronous discharge was noticed. MRI findings such as chronic infarct with encephalomalacia were seen.Conclusions: Our study identified genes responsible for CNS abnormalities in structure and function and the Exom sequence in which they occurred. We were able to observe various types of clinical presentations of the syndromes on MRI/USG.

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