Molecular analysis of the fragile X syndrome.
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Biomedical subjects
Publications and source records attributed to J Bloomfield.
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Two hundred and two pre-adolescent subjects aged 7-12 years were examined on a battery of anatomical and physiological tests. The total sample comprised non-competitive children, and those involved in training for swimming or tennis. A series of analyses of variance were applied to the data to determine whether any differences existed between preadolescent males and females. No significant interaction between age, sex and sporting involvement was found which indicated sex differences to be independent of age and training group. The results revealed that males were superior to females in physical exercise capacity, PWC170, forced vital capacity, and hand grip strength. Males also demonstrated a lesser proportion of body fat than females but were more mesomorphic. No significant differences existed in any of the other tests.
One hundred and twelve finalists in the State Swimming Championships aged between seven and twelve years and 65 ranked tennis players of similar age were selected on the basis of their sporting performances. A third group comprised children of similar socio-economic status who only took part in casual sport. The tests which were used in the study were those considered to be important for successful athletic performance. A multifactorial analysis of variance and post-hoc t-tests were applied to the data to determine if any statistical differences were apparent between the three groups. The results demonstrated that no size, body shape, flexibility, strength or lung function differences were evident between the competitors and non-competitors, but that the swimmers and tennis players were superior to the non-competitors in cardiovascular endurance.
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Explore the source record for details and available documents.
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At her second day of life, a 2,200 g, 34 weeks gestational age female newborn infant with idiopathic respiratory distress syndrome, under treatment with mechanical ventilation and monitored through an umbilical arterial catheter (UAC), had severe clinical signs of arterial obstruction of her left limb. Signs of occlusion at the common femoral artery level were evident at Doppler ultrasonography. Doppler determinations showed early arterial blood flow improvement before amelioration of skin coloration and arterial pulses, that allowed close observation and withholding of surgical treatment which was finally not necessary. Eighteen newborn babies with an umbilical arterial catheter were then prospectively followed by Doppler ultrasound flow determinations. No further cases with clinical signs of arterial occlusion were found and Doppler studies performed in these late cases showed normal results in all of them. Doppler ultrasound flow determination is helpful for the diagnosis and management of lower limb arterial obstruction in newborn infants with umbilical arterial catheters.
Listeria monocytogenes can cause sepsis and meningitis during the neonatal period. Six cases of early onset neonatal sepsis caused by Listeria monocytogenes are reported here. These cases were diagnosed in a private hospital at Santiago, Chile from December 1984 throughout November 1986. The incidence rate was 1.4 x 1,000 liveborns. Clinical findings included prematurity (6), meconium stained amniotic fluid (6), hepatomegaly (6), splenomegaly (6), maculopapular exanthem (4), anal prolapse (3) and meningitis (1). Additionally 5 patients developed respiratory distress and 4 required ventilatory support. Overall mortality was 50% (3/6). All deaths were related to respiratory failure and occurred during the first week of disease. All patients received ampicillin and amikacin early in the course of their infection. Listeriosis of the newborn infant might be preventable by prompt recognition and treatment of maternal infections. Since Listeria infection in pregnancy is usually mild and symptoms and signs are nonspecific, prevention may be difficult. Pregnant women with fever of no clear origin or with an influenza like syndrome should be screened for listeriosis with cultures from blood, vagina and cervix samples.
Specific mortality rates for birthweight (BW) and survival for gestational age were determined in babies under 1500 g and less than 34 weeks gestational age (GA), which were born in a private hospital at Santiago, Chile, between 1983 and 1988. Mortality rates were 875/1,000 in babies under 750 g, 391/1,000 for BW between 750 and 999 g, 185/1,000 for BW 1,000 to 1,249 g, and 125/1,000 in newborns who weighed 1,250 to 1,499 g. Survival increased with gestational age from 39% under 26 weeks to 57% at 26 and 27 weeks, reaching 83% at 28 and 29 weeks, 90% at 30 and 31 and 87% at 32 and 33 weeks. No significant difference was found neither in mortality nor in intracranial hemorrhage (ICH) incidence between newborns delivered by cesarean section or vaginal way. Survival of babies born after 26 weeks GA and weighing over 750 g was comparable with that reported by others. The type of delivery is not likely to play a role by itself in mortality or in incidence of severe ICH.
A retrospective and collaborative study was done in Santiago, Chile, in order to obtain national data on birth-weight, height and head circumference of babies born at 24 to 34 weeks of gestation: 370 babies with reliable gestational age, single pregnancies and no maternal nor fetal morbidity were included in the study. Babies were born in three government and one private hospitals from 1982 to 1987. Mean birthweight, height and head circumference for each gestational age from 24 to 34 weeks are presented in tables with their S.D. and charts +/- 1.5 S.D. The national use of these tables and curves is recommended.
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