A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
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We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of DNA analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic DNA markers spanning the X chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum LOD score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family. (+info)
Randomized diet in the neonatal period and growth performance until 7.5-8 y of age in preterm children.
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BACKGROUND: Preterm children are at high risk of poor growth performance. In 2 randomized trials, preterm infants fed preterm formula grew better in the neonatal period than those fed banked donor breast milk or standard term formula. OBJECTIVE: Our objective was to test the hypothesis that for preterm infants, the neonatal period is a critical one for programming growth performance and that early diet influences long-term growth. DESIGN: A total of 926 preterm infants were recruited into 2 parallel, randomized trials of neonatal diet. In trial 1, infants were fed either banked donor breast milk or preterm formula whereas in trial 2, infants were fed either standard term formula or preterm formula. Within each trial, the allocated milk was the sole diet for some infants (study A), whereas for others it was a supplement to maternal breast milk, given when not enough expressed breast milk was available (study B). We followed up 781 of 833 survivors (94%) to age 7.5-8 y. Trained assessors obtained anthropometric measurements according to a standard protocol. RESULTS: Despite significantly better neonatal growth performance in infants fed preterm formula (compared with either banked donor breast milk or standard formula), early diet had no influence on weight, height, head circumference, or skinfold thicknesses at 9 or 18 mo postterm or at age 7.5-8 y. CONCLUSIONS: These findings suggest that the preterm period is not a critical window for nutritional programming of growth, which contrasts with evidence from these trials showing that early diet influences later neurodevelopment. (+info)
The effect of a maxillary lip bumper on tooth positions.
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The effect of the use of a lip bumper with anterior vestibular shields on the maxilla was studied in twenty-two 9-14-year-old children with a space deficiency in the maxillary dental arch. The lip bumper was used for 1 year. The effect of the treatment was evaluated from dental casts and profile cephalograms made before and after treatment. Both the width of the maxillary dental arch at the premolars and the length of the arch increased significantly by about 2 mm. The effect of the treatment on the antero-posterior position of the first molars was small. In one subject the molar was distalized 2.8 mm. The average effect was, however, a reduction in the anterior movement of the molar within the face by about 0.5 mm, i.e. the maxilla moved anteriorly 1 mm, but the molar only 0.4 mm. No skeletal effects were found when the group of subjects treated with a lip bumper was compared with a reference sample of untreated individuals. The main effects of a maxillary lip bumper thus seem to be a widening of the dental arch across the premolars, a moderate increase in arch length due to eruption and slight proclination of the incisors, and moderate distal tipping of the first molars. (+info)
The retraction of upper incisors with the PG retraction system.
(52/1457)
The aim of this study was to evaluate the effect on the dentoalveolar structures of the application of PG springs for retraction of upper incisors and to compare the outcome with the effect of a closed coil spring retraction system. Thirty-six subjects with Angle Class I or Class II malocclusions were selected for the study. Each subject had the two upper first premolars extracted and presented a symmetrical extraction space of at least 3 mm distal to the lateral incisors after canine retraction. The subjects were divided into two groups, the PG group with 17 subjects and the coil group with 19 patients. One group had the incisors retracted by PG universal retraction springs, whereas in the other a closed coil spring system was used. The average chronological ages were 18 years 4 months for the PG group, and 18 years 7 months for the coil group. In both groups the springs were activated to produce an initial force of 150 g per side. To examine the type of movement of the anterior and posterior teeth, and the time and rate of space closure, 20 parameters were measured and evaluated statistically with Wilcoxon and Mann-Whitney U-tests. In both groups the incisor retraction was accompanied by mesial movement of the buccal segments. Distal movement of the root apex of the incisors was observed in both groups, although more pronounced in the PG group (P < 0.01). A significant incisor intrusion resulting in a decrease in overbite was found in the PG group, whereas the deep bite increased significantly in the coil spring group. The PG spring produced a three-dimensional control in the movement of the upper incisors, so that application of additional intrusive mechanics after completion of the incisor retraction became unnecessary. (+info)
A comparison of chincap and maxillary protraction appliances in the treatment of skeletal Class III malocclusions.
(53/1457)
The purpose of this retrospective investigation was to compare cephalometrically the treatment effects of chincap and maxillary protraction appliances in subjects with a Class III skeletal malocclusion with a combination of an underdeveloped maxilla and prominent mandible. Twenty-four patients were divided into two groups according to the treatment type; the chincap group (mean age 11.03 years, n = 12) and the Delaire type maxillary protraction appliance group (mean age 10.72 years, n = 12). In both groups, a significant increase in ANB, molar relationship, and overjet showed the effect of the appliances in the treatment of Class III malocclusions. In comparing the two groups, the maxilla was displaced more anteriorly and the molar relationship correction was greater in the maxillary protraction appliance group (P < 0.05). Angular and dimensional parameters for lower incisor/NB and nasolabial angle showed significant differences between the groups (P < 0.05). (+info)
Overbite depth and anteroposterior dysplasia indicators: the relationship between occlusal and skeletal patterns using the receiver operating characteristic (ROC) analysis.
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This study was carried out to investigate the validity of the overbite depth indicator (ODI) and the anteroposterior dysplasia indicator (APDI), based on the cephalometric analysis of 122 Caucasians selected at random for assessment of vertical and sagittal relationships. Considering the occlusion, the sample was divided into three classifications in the sagittal component: 36 cases of neutrocclusion, 54 cases of distocclusion, and 34 cases of mesiocclusion. The sample was also categorized according to the overbite relationship: 54 cases of normal overbite, 34 cases of open bite, and 34 cases of deep overbite. In the sagittal component analysis, the APDI measurement resulted in significant differences between the neutrocclusion, distocclusion, and mesiocclusion groups. In the vertical component analysis, the ODI significantly distinguished between the normal and deep overbite groups, and the open bite and deep overbite groups, but not between the normal overbite and the open bite groups. A receiver operating characteristic (ROC) analysis showed that the APDI matched the anteroposterior molar relationship in 88 per cent, and the ODI matched the amount of incisor overbite in 81 per cent. (+info)
Early growth, adult income, and risk of stroke.
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BACKGROUND AND PURPOSE: A number of studies have shown that reduced intrauterine growth and low birth weight are associated with raised rates of fatal and nonfatal stroke in adult life. Whether this increased risk of stroke is modified by growth in childhood or by socioeconomic status in adult life is not known. METHODS: We studied hospital admissions and deaths from stroke among 3639 men who were born in Helsinki University Central Hospital during 1924 to 1933. They had detailed records of their body size at birth, their growth through childhood, and their social circumstances as adults. Three hundred thirty-one of the men had had a stroke. RESULTS: Hazard ratios for stroke were related to low birth weight in relation to head circumference (P=0.005) and to short length in relation to head circumference (P=0.02). These associations were stronger for hemorrhagic than for thrombotic stroke. Men who developed stroke still had below-average stature at 7 years (P=0.05), but after 7 years their height "caught up" through accelerated growth. As adults they had low incomes and low social class (P<0.0001). CONCLUSIONS: Stroke may originate through reduced fetal growth, with low body weight and short body length at birth but "sparing" of head growth. Other studies suggest that this pattern of growth is associated with persisting elevation of blood pressure and raised plasma fibrinogen concentrations, 2 known risk factors for stroke. The risk of stroke is increased by accelerated growth in height during childhood. Accelerated growth has previously been linked to the development of hypertension in adult life. Stroke risk is further increased by adverse influences linked to low income. (+info)
Gestational age in pregnancies conceived after in vitro fertilization: a comparison between age assessed from oocyte retrieval, crown-rump length and biparietal diameter.
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OBJECTIVE: To compare gestational age (GA) and day of delivery estimated from the time of in vitro fertilization (IVF) (oocyte retrieval + 14 days), the ultrasonic measurement of the crown-rump length (CRL) and the biparietal diameter (BPD) in pregnancies conceived in an IVF setting. DESIGN: Included were 208 singletons and 72 twin pregnancies conceived after IVF. GA estimated from the time of IVF was compared with the GA estimated from the ultrasonic measurement of the CRL in the first trimester and the BPD in the second trimester. RESULTS: In singletons the mean difference in gestational age was 0.9 days between IVF and CRL estimates and 2.1 days between IVF and BPD estimates. The gestational age as estimated from CRL or BPD was shorter than the GA estimated from IVF. There was no systematic variation in the mean differences in GA between the methods. In three pregnancies there was a difference of more than 7 days between the gestational age estimated from IVF and CRL and in 22 pregnancies between gestational age estimated from IVF and BPD. A difference of > 14 days for any of the estimates was not found in any case. In singletons there was a high correlation in the gestational age at birth assessed from the time of IVF and from CRL, from the time of IVF and from BPD. CONCLUSION: Assessment of gestational age from the time of IVF, CRL and BPD in pregnancies conceived after IVF shows equally high agreement between the three methods. This supports the use of ultrasound as a reliable method for estimation of gestational age. (+info)