1,720,970 research outputs found
Analysis of disaccharidase activity of the amniotic fluid for the early prenatal diagnosis of abnormalities of patency and motility of the fetal intestine.
No full textSono state dosate sette attività disaccaridasiche (maItasi, saccarasi, trealasi, palatinasi , turanasi , lattasi e cellobiasi) in 124 campionii di liquido amniotico, ottenuti mediante amniocentesi transaddominali eseguite da 116 gravide tra
la 14 e la 39 settimana gestazionale. Le attività enzimatiche presentano i valori più elevati fra la 16 e la 18 settimana gestazionale, e decrescono fra la 19 e la 23 settimana gestazionale; tutte le attività di saccaridasiche, sono risultate strettamente correlate fra loro. Un feto con onfalocele ed atresia intestinale e tre feti con anencefalia hanno presentato attività enzimatiche inferiori a - 2 Deviazioni Standard dalla media o inferiori al più basso dei valori normali riscontrato nei
controlli di pari età gestazionate. Gli Autori confermano l'utilità del dosaggio delle disaccaridasi nel liquido amniotico per la diagnosi prenatale delle alterazioni della pervietà emotilità intestinale; sottolineano che la massima attendibilità del test
è compresa tra la 15 e la 19 settimana gestazionale, e ritengono necessari ulteriori studi nei campioni di li quido amniotico prelevati fra la 19 e la 23 settimana gestazionale, allo scopo di definire con esattezza i l periodo di gravidanza in cui i risultat di tale test sono attendibili. Per ultimo propongono che la determinazione sia limitata a sole quattro attività disaccaridasiche (maltasi, trealas, turanasi e lattasi)
Curve di crescita standard per la sindrome di Down. Studio retrospettivo in 337 soggetti.
No full textMeasurements of weight, length/ height and head circumference were obtained on 337 Down syndrome not institutionalized children (205 males and 132 females) followed by the medical genetic group from birth to the age of 15 years. The children with chromosomal mosaicism, those affected by cardiac or other malformations and those treated with hormones were excluded from the study.
The karyotype showed a free trisomy 21 in 95 % of subjects
and a translocation trisomy 21 in 5 % .
The means and standard deviations have been derived for
all parameters at various ages and standard growth curves
have been constructed. Such curves were thus compared
to normal controls o f the same sex.
Data from this study show that the mean values of weight,
length/height and head circumference of Down syndrome
males and females are lower than values of normal controls,
but within or at m 2 S.D. A tendency to a overweight was
observed for children with the age between 2 and 14 years.
These curves may be useful in following the Down syndrome
children to identify those who present one or more parameters
not within the Down syndrome range.
The early recognition of abnormal growth is important to
identify diseases not directly connected with the syndrome
OBSERVATIONS ON THE VISUAL-PERCEPTUAL ABILITIES AND ADAPTIVE-BEHAVIOR IN ADULTS WITH DOWN-SYNDROME
No full textIn this research,we consider some psychological, social, and clinical implications of premature aging in persons with Down syndrome (DS). Perceptual and adaptive tests contribute to a better knowledge of the characteristics of mental decline and self-government in DS adults.
Visual-perceptual abilities (as measured by the Frosting Development Test of Visual Perception) and behavioral and social adaptation (measured by the Brown Adaptive Behavioral Inventory) were examined in 44 DS subjects aged 14 to 43 years. The results indicated a general decline in performance in the older groups (over 25 years), except in the visual-motor subtest, where a decline is less evident, as this ability continues to be exercised in craft work.
Statistical analysis indicates a significant correlation between perceptual abilities, adaptive scales, and mental age. From the data collected, we draw some general conclusions about the trend of perceptual abilities and self-government in relation to aging in DS persons
Growth and development in Down's syndrome. A series of 337 children from Veneto, Italy
No full textA group of 205 boys and 132 girls with Down's syndrome, raised at home have been followed up at this center from 1970 to date. All were ambulatory and all trisom i c 2 I.
The present study, analyzed data from longitudinal observations on standing height, weight, and head circumference, measured by standard anthropometric procedures and, when available, from the psycho motor milestones. The parental age at birth was also recorded and compared to the controls. All data were compared to those of 2500 and 2300 normal boys and girls, respectively, from the same area (Veneto Italy)
Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome.
No full textA condition is described which is characterized by chorio-retinal dysplasia , microcephaly and mental retardation, transmitted in an autosomal dominant fashion with variable expressivity. It is suggested that this condition is a distinct autosomal dominant syndrome
Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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