scholarly journals A tetrahidrobiopterin (BH4)-deficientia diagnosztikája és kezelése

2017 ◽  
Vol 158 (48) ◽  
pp. 1897-1902 ◽  
Author(s):  
János Bókay
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mental Retardation ◽  
Phenylalanine Hydroxylase ◽  
Clinical Course ◽  
Hydroxylase Activity ◽  
Mild Form ◽  
Tetrahydrobiopterin Deficiency ◽  
The Central Nervous System ◽  
Phenylalanine Metabolism

Abstract: Since the initial breaking discovery of Følling that the severe neurological consequences of phenylketonuria could be prevented by use of low phenylalanine (Phe) diet, it has been shortly recognised that defective phenylalanine metabolism may also arise from the deficiency of tetrahydrobiopterin (BH4) cofactor, required for phenylalanine-hydroxylase activity. Furthermore, as BH4 is in Phe metabolism, it is also a cofactor for the activities of tyrosine hydroxylase and tryptophane hydroxylase, enzymes required for the synthesis of catecholamines and serotonin neurotransmitters. Besides hyperphenylalaninemia in patients with tetrahydrobiopterin deficiencies, dopamine and serotonin deficiencies, with different disorders of the central nervous system also develop. Mild form of tetrahydrobiopterin deficiency is rare, most of the patients have severe neurological abnormalities including progressive mental retardation if not treated properly. Early diagnosis and treatment are essential and can improve the clinical course and prognosis. Orv Hetil. 2017; 158(48): 1897–1902.

scholarly journals The nervous form of canine distemper

2018 ◽  
Vol 13 (2) ◽  
pp. 125-136
Author(s):  
Alice Fernandes Alfieri ◽  
Alexandre Mendes Amude ◽  
Amauri Alcindo Alfier
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Canine Distemper Virus ◽  
Demyelinating Disease ◽  
Clinical Course ◽  
Systemic Infection ◽  
Canine Distemper ◽  
Systemic Involvement ◽  
Clinical Syndromes ◽  
The Central Nervous System

Canine distemper is a systemic infection, frequently lethal in dogs. The canine distemper virus(CDV) causes a persistent infection within the central nervous system resulting in aprogressive, multifocal demyelinating disease. In dogs, CDV infection may lead togastrointestinal and/or respiratory signs, frequently with central nervous system involvement.Myoclonus has been a common and characteristic sign observed in dogs with distemperencephalomyelitis. However, the nervous form of distemper may occur in the absence ofmyoclonus and systemic involvement. This review will point the clinical course and theneurological signs of nervous distemper, as well the clinical syndromes of CDV infection,neuropathology of acute and chronic demyelination, and diagnostic aids of CDVencephalomyelitis.

scholarly journals Analysis of electrogenesis’ changes in mental retardation persons by using computer electroencephalography

2021 ◽  
Vol 11 (11) ◽  
pp. 249-265
Author(s):  
B. Lobasyuk ◽  
L. Bartsevich ◽  
A. Zamkovaya
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mental Retardation ◽  
Theta Rhythm ◽  
Cognitive Activity ◽  
Control Group ◽  
Bioelectrical Activity ◽  
The Central Nervous System ◽  
Beta Rhythms ◽  
The Brain

Justification. Mental retardation is a persistent decrease in human cognitive activity against the background of organic damage to the central nervous system. Neurophysiological diagnostics, in particular electroencephalography (EEG), most adequately reflects the morpho-functional state of the central nervous system, which is the basis of the mechanisms of mental activity, and the originality of the bioelectrical activity of the brain can be considered as the main indicator that determines a decrease in the level of intellectual development and, thereby, characterizes this state. This provision actualizes the search for highly informative indicators of the originality of the bioelectrical activity of the brain in children with intellectual disabilities. Purspose. With the use of periodometric analysis investigate EEG’s indicators and interhemispheric asymmetry of rhythms amplitudes in MR patients. Materials and methods. The EEG was recorded in a state of calm wakefulness with closed eyes with Neuron-Spectrum-2 electroencephalograph. Differences in indicators were tracked using the calculation of the coefficient of compliance (CC), EEG functional asymmetry coefficients in amplitude were determined, too. Results. It was revealed that in MR patients the amplitudes of the rhythms were greater than in healthy subjects. The greatest increase was determined in theta rhythm in the anterior temporal and posterior temporal leads in the left hemispheres. Duration indices in the delta, theta and alpha ranges of the EEG in mental retardation compared with the control group were increased, and the indices of the duration of beta rhythms - decreased. When analyzing FMPA in MR persons it turned out that in right-handers the negativeness of FMPA indices increased, and in left-handers there was an increase in the positivity of FMPA indices. Conclusions 1. With mental retardation, the amplitudes of the rhythms were greater than in healthy people. The greatest increase was determined in theta rhythm in the anterior temporal and posterior temporal leads in the left hemispheres. 2. The indices of duration in the delta, theta and alpha ranges of the EEG of MR subjects were increased, and the indices of the duration of beta rhythms – decreased. 3. When analyzing FMPA in MR persons, it turned out that in right-handers the negativeness of FMPA indices increased, and in left-handers there was an increase in the positivity of FMPA indices.

Über die gerichtete Aufnahme des Biopterins im Organismus I.

1968 ◽  
Vol 23 (5) ◽  
pp. 666-670 ◽  
Author(s):  
Gisela Hanser ◽  
Heinz Rembold
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Metabolic Activity ◽  
Phenylalanine Hydroxylase ◽  
Tracheal Epithelium ◽  
Cellular Activity ◽  
Functional Importance ◽  
Larval Stages ◽  
The Central Nervous System ◽  
High Metabolic Activity

C14 labelled Biopterin and Neopterin, when fed to larval stages of Queen and Worker bees, behave similarly and are incorporated into different organs. During metamorphosis and imaginal development, the accumulation of the radioactive pterins is found in places of high metabolic activity such as the eyes, wings, legs. They are also found in the tracheal epithelium, in the wing muscles and the ovaries. In tissues of high cellular activity the radioactivity is found in the nuclei. The concentration of the administered labelled Biopterin and Neopterin into the imaginal cuticle at the time of sclerotization and pigmentation, as well as their directed uptake by the peripheral ganglion sheath of the central nervous system points to the functional importance of these pterins as cofactors of phenylalanine hydroxylase and respectively of tryptophane hydroxylase in insects.

scholarly journals Creutzfeldt–Jakob Disease with a Five-Year Clinical Course, Multicentric Cerebellar Prion Plaques and Prior History of Biopsy-Proven Primary Angiitis of the Central Nervous System: A Case for Iatrogenic Exposure?

Viruses ◽  
2020 ◽  
Vol 12 (12) ◽  
pp. 1411
Author(s):  
Kristina Jeon ◽  
Jeffrey T. Joseph ◽  
Gerard H. Jansen ◽  
Anne Peterson ◽  
J. David Knox ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Parietal Lobe ◽  
Clinical Course ◽  
Prior History ◽  
System A ◽  
Primary Angiitis ◽  
History Of ◽  
Jakob Disease ◽  
The Central Nervous System

Creutzfeldt–Jakob disease (CJD) is a rapidly progressive neurodegenerative disease that can arise spontaneously, genetically, or be acquired through iatrogenic exposure. Most patients die within a year of symptom onset. It is rare, affecting 1–2 per million per year, and the majority of cases are sporadic. Primary angiitis of the central nervous system (PACNS) is also rare, affecting 2.4 per million per year. We present a case of an unusually long clinical course of CJD, almost five years, which began with symptoms of apraxia. The patient had biopsy-proven PACNS 16 years prior to clinical presentation, and the site of biopsy was the left parietal lobe. Autopsy revealed multicentric prion plaques in the cerebellum, in the setting of normal genetic testing. The presence of plaques in the cerebellum, and prior neurosurgery, raises the possibility of iatrogenic exposure. We present the details of this case, including pathology from the original biopsy and final autopsy, as well as a review of relevant cases in the literature.

scholarly journals Cystic hemispheric medulloepithelioma

2015 ◽  
Vol 19 (2) ◽  
Author(s):  
Jacqueline Du Toit ◽  
Tracy Kilborn ◽  
Llewellyn Padayachy ◽  
Komala Pillay ◽  
Marc Hendricks
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Early Childhood ◽  
Clinical Course ◽  
Cyst Formation ◽  
Subtotal Resection ◽  
Imaging Findings ◽  
Solid Mass ◽  
The Central Nervous System ◽  
Aggressive Clinical Course

Medulloepithelioma is a rare primitive embryonal tumour of the central nervous system which typically occurs in early childhood. The histopathological appearance has been confused with primitive neuroectodermal tumours (PNETs), but medulloepitheliomas have a more aggressive clinical course. Imaging typically demonstrates a well-circumscribed, poorly or non-enhancing solid mass, with cyst formation being infrequent. We report the imaging findings in a case of a cystic hemispheric medulloepithelioma. The importance of considering this diagnosis is discussed in view of the propensity to aggressive recurrence in subtotal resection.

Sign in / Sign up

Export Citation Format

Share Document