ABSTRACT
BACKGROUND: Congenital mirror movements are involuntary movements of a side of the body imitating intentional movements on the opposite side, appearing in early childhood and persisting beyond 7 years of age. Congenital mirror movements are usually idiopathic but have been reported in association with various brain malformations. METHODS: We describe clinical, genetic, and radiologic features in 9 individuals from 5 families manifesting congenital mirror movements. RESULTS: The brain malformations associated with congenital mirror movements were: dysplastic corpus callosum in father and daughter with a heterozygous p.Met1* mutation in DCC; hypoplastic corpus callosum, dysgyria, and malformed vermis in a mother and son with a heterozygous p.Thr312Met mutation in TUBB3; dysplastic corpus callosum, dysgyria, abnormal vermis, and asymmetric ventricles in a father and 2 daughters with a heterozygous p.Arg121Trp mutation in TUBB; hypoplastic corpus callosum, dysgyria, malformed basal ganglia and abnormal vermis in a patient with a heterozygous p.Glu155Asp mutation in TUBA1A; hydrocephalus, hypoplastic corpus callosum, polymicrogyria, and cerebellar cysts in a patient with a homozygous p.Pro312Leu mutation in POMGNT1. CONCLUSION: DCC, TUBB3, TUBB, TUBA1A, POMGNT1 cause abnormal axonal guidance via different mechanisms and result in congenital mirror movements associated with brain malformations.
Subject(s)
Brain/abnormalities , Movement Disorders/congenital , Movement Disorders/diagnosis , Nervous System Malformations/complications , Nervous System Malformations/diagnosis , Adult , Child , Child, Preschool , DCC Receptor/genetics , Female , Humans , Infant , Male , Movement Disorders/genetics , N-Acetylglucosaminyltransferases/genetics , Nervous System Malformations/genetics , Tubulin/geneticsSubject(s)
Echinococcosis, Hepatic , Child, Preschool , Echinococcosis, Hepatic/diagnosis , Female , HumansABSTRACT
A total of 739 (225 H1N1(+)) children with a diagnosis of acute respiratory infection were hospitalized during July to December 2009. The H1N1(+) children were compared with 225 randomly enrolled H1N1(-) children with an influenza-like illness. As compared with influenza-like illness patients, patients with 2009 influenza A/H1N1 were characterized by older age, more vomiting, less hypoxemia and wheezing, lower white blood cell counts, less neutrophilia, and severe lymphopenia.
Subject(s)
Hospitalization , Influenza A Virus, H1N1 Subtype/isolation & purification , Influenza, Human/epidemiology , Influenza, Human/pathology , Adolescent , Age Distribution , Arabs , Child , Child, Preschool , Humans , Hypoxia/diagnosis , Infant , Influenza, Human/diagnosis , Influenza, Human/virology , Israel/epidemiology , Jews , Leukocyte Count , Lymphopenia/diagnosis , Respiratory Sounds/diagnosis , Vomiting/diagnosisABSTRACT
Metaplasticity, the plasticity of synaptic plasticity, is thought to have a pivotal role in activity-dependent modulation of synaptic connectivity, which underlies learning and memory. Metaplasticity is usually attributed to modifications in glutamate receptor-mediated synaptic transmission. However, experimental evidence and theoretical considerations suggest that learning reduces the predisposition for further synaptic strengthening, while behavioral studies show that learning capability is enhanced by prior learning. Here we show that enhanced neuronal excitability in CA1 pyramidal neurons, but not enhanced synaptic transmission, occurs prior to rule learning of an olfactory discrimination task. This transient enhancement lasts for 1 day after rule learning, is apparent throughout the cell population and results from reduction in the medium and slow after-hyperpolarizations that control spike frequency adaptation. Such olfactory learning-induced increased excitability in hippocampal neurons enhances the rats' learning capability in another hippocampus-dependent task, the Morris water maze. Once olfactory discrimination rule learning is acquired, its maintenance is not dependent on the reduced post-burst AHP in hippocampal neurons. However, the enhanced spatial learning capability of olfactory-trained rats in the water maze is diminished once the post burst AHP in CA1 pyramidal cells resumes its initial value. We suggest that enhanced excitability of CA1 neurons may serve as a mechanism for generalized enhancement of hippocampus-dependent learning capability. In the presence of such enhanced neuronal excitability, the hippocampal network enters into a 'learning mode' in which a variety of hippocampus-dependent skills are acquired rapidly and efficiently.