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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The behavioural changes that occur in visual development in the first 6 months of human life are discussed in relation to the possible underlying changes in neurophysiological mechanisms, with inter-species comparisons being made when appropriate. Recent data on the developing infant's changing capacity to discriminate various stimulus attributes is considered. It appears that orientation discrimination and cortically related visual evoked potentials are present at, or soon after, birth. However, data on colour discrimination, field differences in detection tasks and control of visual attention suggest a subcortical site for control of behaviour for the first month of life. The improvements in spatial and temporal resolution depend on maturation of both peripheral and central structures in the visual pathway and so do not provide a clear distinction between cortical and subcortical function. There is clear evidence that binocular function in the cortex does not emerge until three months postnatally. A hypothesis is proposed that maturation of a number of pathways between cortex and subcortical structures underlies the observed behavioural changes starting at around 2 months of age. The initial immaturity of connections between cortex and pretectum may give rise to asymmetrical monocular OKN. Maturation of pathways from cortex to colliculus could account for improvements in convergence, allowing development of cortical binocularity, and for the developing ability to control shifts of visual attention.
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PMID:Human visual development over the first 6 months of life. A review and a hypothesis. 637 43

Benign neonatal familial convulsions comprise a distinct epileptic syndrome with an autosomal mode of transmission. The electroclinical signs of seizures in this syndrome are not yet well defined. In 3 children from two families presenting with benign neonatal familial convulsions, 14 seizures were recorded during electroencephalographic (EEG)-video sessions. All seizures occurred during sleep, after a short arousal reaction. Seizures started with bilateral, symmetrical flattening of the EEG for 5 to 19 seconds; simultaneously there was apnea and tonic motor activity. The EEG flattening was followed by a long (1-2-minute) bilateral discharge of spikes and sharp waves; simultaneously, there were vocalizations, chewing, and focal or generalized clonic activity. The prominence of EEG and motor abnormalities varied between the left and the right from one seizure to the next in any given child. The seizures stopped without EEG or clinical postictal depression. These electroclinical observations suggest that the convulsions of benign neonatal familial convulsions are a form of generalized tonic-clonic seizure whose expression may be asymmetrical, probably because of the immaturity of the corpus callosum or other structures ensuring seizure synchronization.
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PMID:Electroclinical signs of benign neonatal familial convulsions. 825 May 33

Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.
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PMID:Turner's syndrome mosaicism 45X/47XXX: an interesting natural history. 1176 52

The Hutchinson-Gilford progeria syndrome (HGPS) is a very rare, but well known inherited condition of uncertain etiology in which features of premature and accelerated aging are mixed with those of delayed maturity and immaturity. Appearance at birth and birth weight are usually normal but growth typically slows after 1 year. All organ systems undergo degeneration to such an extent that the patient resembles an old man or woman. Short stature, micrognatia, alopecia, sculptured nose, prominent scalp veins, loss of subcutaneous fat, prominent joints, hyperlipidemia and early arteriosclerosis characterize the syndrome. Skeletal compromise includes hypoplasia and dysplasia, persistent open fontanelles, severe osteolysis and pathological fractures. There are no intellectual deficits in patients with this syndrome, and intelligence is unaffected. The life span in progeria is shortened by early arteriosclerosis. In this case, we review the characteristics of the severe osteolytic compromise in distal arms and limbs and bone deformities in a case of an 8-year-old girl, who was admitted to our hospital with short stature and loss of hair. On examination, the child had the major clinical criteria for HGPS as well as severe alterations in osteogenesis, including craniofacial disproportion, short and sculptured nose, delayed dentition, severe scoliosis, clavicular deformity and asymmetrical and hypoplastic arms and legs. Generalized osteopenia and severe osteolytic compromise in distal extremities were found by X-ray examination. In summary, we report the case of an 8-year-old girl who meets the diagnostic criteria for HGPS with severe involvement of her bones and joints with a review of the current literature and a possible therapeutic approach.
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PMID:Severe bone changes in a case of Hutchinson-Gilford syndrome. 1238 48

Nonconserving children may fail to conserve because of difficulties in verbally expressing nonlinguistic knowledge of equivalence relationships. This may be partly due to an inability of the right hemisphere, which mediates the performance of internal reversals and conservation, to communicate with the speaking left hemisphere because of the immaturity of the corpus callosum. This relationship presumably results in the asymmetrical activation of the left hemisphere when verbal responses are required. To assess the possibility that nonconservers have an awareness of the reversibility of these operations, three groups of nonconserving children (N = 42) were either asked which of two containers (one of which appeared to contain more liquid, but had previously been shown to contain less) had more in it, or which (pretending they were very thirsty and it was their favorite drink) they would prefer. To assess whether nonconservers respond primarily with left hemisphere activation, patterns of lateral eye movement in response to verbal-analytic or spatial-emotional stimuli were obtained in a fourth group (N = 37). Both hypotheses were supported.
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PMID:Nonlinguistic Knowledge, Hemispheric Laterality, and the Conservation of Inequality in Nonconserving Children. 2814 70