scholarly journals Molecular genetic defects in congenital hypothyroidism

2004 ◽  
pp. U39-U44 ◽  
Author(s):  
A Gruters ◽  
H Krude ◽  
H Biebermann
Keyword(s):  
Central Nervous System ◽  
Congenital Hypothyroidism ◽  
Molecular Genetic ◽  
Critical Role ◽  
Genetic Defects ◽  
Cns Development ◽  
Central Hypothyroidism ◽  
Molecular Defects ◽  
The Central Nervous System

Recently molecular genetic defects in some cases of congenital hypothyroidism (CH) as well as of rare cases of central hypothyroidism have been identified. These studies have led to the description of so far unexplained forms of these disorders. In some patients with CH early diagnosis by newborn screening and early treatment was not able to lead to a normal mental development. This could subsequently be explained by molecular defects of transcription factors (FOXE-1/FKHL15, NKX2.1) which are important not only for the embryonic development of the thyroid gland but also for other organs including the central nervous system (CNS). These findings will help in understanding the critical role of thyroid hormones in the pre-and postnatal CNS development. However, many questions regarding the molecular defects and their consequences in the majority of patients with CH still remain open and will be addressed in this article.

scholarly journals Snapin deficiency is associated with developmental defects of the central nervous system

2010 ◽  
Vol 31 (2) ◽  
pp. 151-158 ◽  
Author(s):  
Bing Zhou ◽  
Yi-Bing Zhu ◽  
Lin Lin ◽  
Qian Cai ◽  
Zu-Hang Sheng
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Protein Quality ◽  
Third Ventricle ◽  
Critical Role ◽  
Developmental Defects ◽  
Lysosomal Function ◽  
Quality Control Process ◽  
The Central Nervous System

The autophagy–lysosomal pathway is an intracellular degradation process essential for maintaining neuronal homoeostasis. Defects in this pathway have been directly linked to a growing number of neurodegenerative disorders. We recently revealed that Snapin plays a critical role in co-ordinating dynein-driven retrograde transport and late endosomal–lysosomal trafficking, thus maintaining efficient autophagy–lysosomal function. Deleting snapin in neurons impairs lysosomal proteolysis and reduces the clearance of autolysosomes. The role of the autophagy–lysosomal system in neuronal development is, however, largely uncharacterized. Here, we report that snapin deficiency leads to developmental defects in the central nervous system. Embryonic snapin−/− mouse brain showed reduced cortical plates and intermediate zone cell density, increased apoptotic death in the cortex and third ventricle, enhanced membrane-bound LC3-II staining associated with autophagic vacuoles and an accumulation of polyubiquitinated proteins in the cortex and hippocampus. Thus our results provide in vivo evidence for the essential role of late endocytic transport and autophagy–lysosomal function in maintaining neuronal survival and development of the mammalian central nervous system. In addition, our study supports the existence of a functional interplay between the autophagy–lysosome and ubiquitin–proteasome systems in the protein quality-control process.

scholarly journals Critical Role of Neutrophils in Eliminating Listeria monocytogenes from the Central Nervous System during Experimental Murine Listeriosis

2000 ◽  
Vol 68 (8) ◽  
pp. 4789-4791 ◽  
Author(s):  
Santiago López ◽  
Alberto Jesús Marco ◽  
Neus Prats ◽  
Charles J. Czuprynski
Keyword(s):  
Central Nervous System ◽  
Monoclonal Antibody ◽  
Nervous System ◽  
Listeria Monocytogenes ◽  
Inflammatory Cell ◽  
Critical Role ◽  
Activated Lymphocytes ◽  
The Central Nervous System ◽  
Gain Access

ABSTRACT Neutrophils are the main inflammatory cell present in lesions involving the central nervous system (CNS) during human and murine listeriosis. In this study, administration of the neutrophil-depleting monoclonal antibody RB6-8C5 during experimental murine listeriosis facilitated the multiplication of Listeria monocytogenes in the CNS. These data suggest that neutrophils play a key role in eliminating bacteria that gain access to the CNS compartment. In addition, we provide evidence that their migration into the CNS may be necessary for the subsequent recruitment of macrophages and activated lymphocytes.

scholarly journals Microglia: An Active Player in the Regulation of Synaptic Activity

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Kyungmin Ji ◽  
Jeremy Miyauchi ◽  
Stella E. Tsirka
Keyword(s):  
Central Nervous System ◽  
Critical Role ◽  
Innate Immune ◽  
Synaptic Activity ◽  
Cell Type ◽  
Synaptic Development ◽  
Active Player ◽  
The Central Nervous System ◽  
Shed Light

Synaptic plasticity is critical for elaboration and adaptation in the developing and developed brain. It is well established that astrocytes play an important role in the maintenance of what has been dubbed “the tripartite synapse”. Increasing evidence shows that a fourth cell type, microglia, is critical to this maintenance as well. Microglia are the resident macrophages of the central nervous system (CNS). Because of their well-characterized inflammatory functions, research has primarily focused on their innate immune properties. The role of microglia in the maintenance of synapses in development and in homeostasis is not as well defined. A number of significant findings have shed light on the critical role of microglia at the synapse. It is becoming increasingly clear that microglia play a seminal role in proper synaptic development and elimination.

Role of a nurse in the rehabilitation of children using ReviMotion hardware and software complex

2020 ◽  
pp. 49-56
Author(s):  
T. Shirshova
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
School Age Children ◽  
Equipment Management ◽  
School Age ◽  
Rehabilitation Process ◽  
Software Complex ◽  
Trained Personnel ◽  
The Central Nervous System

Disorders of the musculoskeletal system in school-age children occupy 1-2 places in the structure of functional abnormalities. Cognitive impairment without organic damage to the central nervous system is detected in 30-56% of healthy school children. Along with the increase in the incidence rate, the demand for rehabilitation systems, which allow patients to return to normal life as soon as possible and maintain the motivation for the rehabilitation process, is also growing. Adaptation of rehabilitation techniques, ease of equipment management, availability of specially trained personnel and availability of technical support for complexes becomes important.

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