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.

Serial CT and MRI findings in a patient with isolated angiitis of the central nervous system associated with cerebral amyloid angiopathy

Amyloid ◽  
2002 ◽  
Vol 9 (4) ◽  
pp. 256-262 ◽  
Author(s):  
Takashi Oide ◽  
Takahiko Tokuda ◽  
Yo-Ichi Takei ◽  
Hitoshi Takahashi ◽  
Kenjiro Ito ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Cerebral Amyloid Angiopathy ◽  
Amyloid Angiopathy ◽  
Mri Findings ◽  
The Central Nervous System ◽  
Serial Ct ◽  
Cerebral Amyloid ◽  
Ct And Mri

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.

Projections from sensory neurons developing at ectopic sites in insects

Development ◽  
1981 ◽  
Vol 65 (Supplement) ◽  
pp. 209-224
Author(s):  
Hilary Anderson
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Sensory Neurons ◽  
Sensory Systems ◽  
Genetic Mutation ◽  
Detailed Understanding ◽  
Giant Interneuron ◽  
The Central Nervous System ◽  
Ectopic Neurons

This paper reviews recent experiments which attempt to gain more understanding about the recognition processes involved in the formation of neuronal connexions by studying the degree of specificity with which sensory neurons form their central connexions. This is done by generating ectopic neurons (either by transplantation or by genetic mutation) whose axons grow into novel regions of the central nervous system, and then examining their projections and synapses. The sensory systems reviewed are: the Antennapedia, spineless-aristapedia, proboscipedia, and bithorax homeotic mutants of Drosphila melanogaster; the cercus-to-giant interneuron system of crickets, and the wind-sensitive hair system of locusts. The results show that ectopic neurons form projections that are discrete and characteristic, not random and chaotic. In those cases where single classes of sensilla have been studied, they follow either their normal CNS pathways or those pathways normally used by their segmental homologues. Ectopic sensory neurons can also form appropriate functional connexions in some cases but not in others. Possible reasons are discussed, but detailed understanding of the underlying events requires further experimentation.

scholarly journals Cysticercosis Involving Muscle of Mastication: A Review and Report of Two Cases

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Sarbjeet Singh ◽  
V. Sreenivasan ◽  
Kanika Garg ◽  
Nikhel Dev Wazir ◽  
Jaspal Singh Rajput ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Taenia Solium ◽  
Parasitic Infection ◽  
Primary Site ◽  
Common Disease ◽  
Temporalis Muscle ◽  
Mri Findings ◽  
Larval Stages ◽  
The Central Nervous System

Cysticercosis is a parasitic infection caused by the larval stages of the parasitic cestode,Taenia solium. It is a common disease in developing countries where it is also endemic. The central nervous system (CNS) is the most important primary site of infection and the disease can present with solitary or multiple space occupying lesions. Cases of cysticercosis presenting as isolated muscle mass (pseudotumours) without involvement of the CNS have also been recently described in the literature. We present two cases who presented to us with pain, swelling, and tenderness involving the temporalis muscle along with trismus. Ultrasonography and MRI findings were suggestive of cysticercosis involving the temporalis muscle which resolved after the albendazole therapy.

Imaging Molecular Targeting In Living Neural Cultures

1999 ◽  
Vol 5 (S2) ◽  
pp. 1228-1229
Author(s):  
Christopher S. Wallace ◽  
Michael A. Silverman ◽  
Michelle A. Burack ◽  
Janis E. Lochner ◽  
Richard G. Allen ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hippocampal Neurons ◽  
Protein Targeting ◽  
Fluorescent Protein ◽  
Complex Structure ◽  
Time Lapse ◽  
The Central Nervous System

Recent technical advances in the ability to attach an endogenously fluorescent protein sequence—i.e., green fluorescent protein or GFP and its derivatives--to any protein of experimental interest promises to mark a new era of progress in the study of protein targeting. Bringing these new tools to bear on neurons of the central nervous system has been challenging, however, because they have a very complex structure and are relatively difficult to transfect because they are post-mitotic.We use two cell culture approaches to characterize protein trafficking within neurons of the central nervous system in vitro. The first is a dissociated culture of hippocampal neurons from embryonic (El8) rats which is especially suited to analysis by conventional light microscopy because these neurons are grown on glass coverslips at low density. Neurons cultured in this way develop a morphology comparable to that seen in vivo and permit the establishment of axons and dendrites to be analyzed by time-lapse microscopy.

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.

Rare case of Marchiafava-Bignami disease due to thiamine deficiency and malnutrition

2020 ◽  
Vol 13 (12) ◽  
pp. e238187
Author(s):  
Stephanie Kinsley ◽  
Richard Anthony Giovane ◽  
Sandra Daly ◽  
David Shulman
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Chronic Alcoholism ◽  
Demyelinating Diseases ◽  
Mri Findings ◽  
Delayed Treatment ◽  
Demyelinating Disorder ◽  
Fluid Attenuated Inversion Recovery ◽  
The Central Nervous System ◽  
The Relationship

Marchiafava-Bignami disease (MBD) is a rare, toxic demyelinating disorder of the central nervous system associated with chronic alcoholism and malnutrition. The clinical presentation is varied and non-specific, including symptoms of acute dementia, impaired consciousness, dysarthria, hemiparesis, pyramidal tract signs, seizure activity, ataxia and signs of interhemispheric disconnection. The differential diagnosis of MBD may include Wernicke’s encephalopathy, multiple sclerosis, encephalitis, infectious or paraneoplastic leucoencephalopathy, infarction, Alzheimer’s disease, multi-infarct dementia and frontotemporal lobar degeneration (Pick) disease. The diagnosis of MBD is dependent on MRI findings of hyperintensity of the corpus callosum on T2 and fluid-attenuated inversion recovery T2 sequences, with or without extracallosal lesions. The use of MRI in diagnosis has allowed for early initiation of treatment with parenteral thiamine, and improved the prognosis of MBD from frequently fatal to a mortality of less than 8%. Administration of thiamine within 14 days of symptom onset has demonstrated statistically better outcomes over delayed treatment. We present a case report of MBD diagnosed in a 72-year-old woman who presented with ataxia and slurred speech, in an effort to highlight the importance of obtaining MRI in patients presenting with behavioural disturbance and neurological findings, as well as discuss the relationship between thiamine supplementation and demyelinating diseases in the central nervous system.

scholarly journals NEW APPROACHES TO HELPING CHILDREN AT THE CHILDREN’S CITY ADVISORY-DIAGNOSTIC CENTER

2019 ◽  
Vol 20 (5) ◽  
pp. 283-287 ◽  
Author(s):  
L. A. Zdanova ◽  
Marina N. Salova ◽  
I. V. Knyazeva ◽  
A. V. Kochetova ◽  
T. L. Laykova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurological Disorders ◽  
Morbidity Rate ◽  
Modular Approach ◽  
Form Complex ◽  
Diagnostic Center ◽  
The Central Nervous System ◽  
Health Disorders ◽  
Comprehensive Study

There are presented data of a comprehensive study of the health status of schoolchildren, there is given the characteristics of their physical and neuropsychic development, as well as the morbidity rate of children, with taking into account sequellae of perinatal lesions of the central nervous system. In children with chronic somatic pathology, neurological disorders and disorders of the psychoemotional sphere were established to be often detected. This determines the need for a comprehensive neuro- and psychosomatic approach to their treatment and rehabilitation. One of the forms of personification of medical and social assistance for such children was shown to be a modular approach allowing form complex programs consisted of these modules for correction of various health disorders. The use of these modules has prospects, as it optimizes the activity of consulting and diagnostic centers.

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