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PubMed2000

Robust transmission regression models for linkage and association.

We present a general regression model that accounts for both linkage and linkage disequilibrium (LD) when analyzing nuclear family data. The method does not require LD to exist in order to evaluate linkage, but if LD does exist, the power to detect linkage can increase due to improved information on linkage phase. The proposed method is general, allowing for a variety of traits (e.g., binary affection status, categorical and quantitative phenotypes), affecteds only analyses, and covariates. Covariates can be useful to assess heterogeneity of linkage and LD, as well as gene-environment interactions. Other advantages of our methods are that: LD parameters are not defined without linkage, so that population stratification cannot bias the analyses; a combined test for linkage and LD can be used to test for linkage; given the existence of linkage, an adjusted LD test useful for fine-mapping can be constructed; covariate effects can be flexibly modeled; and families containing a single child and families containing multiple offspring can be combined for a single analysis (capitalizing on the LD information provided by single-child families and the combined linkage and LD information provided by multiple offspring). The basic features of the regression model are presented, as well as discussions of potential applications and critical statistical issues.

Adult↗
PubMed2001

Motion robust imaging for continuous intraoperative MRI.

The sensitivity of MR imaging to motion and susceptibility normally requires that the physician using intraoperative MRI cease surgical activity while image data sets are acquired. We demonstrate that line scan imaging allows the physician to continue operating without the delays caused by imaging. Consequently, patient anesthesia, surgery, and operating room time can be reduced. J. Magn. Reson. Imaging 2001;13:158-161.

Brain↗
PubMed2000

Tailored SMASH image reconstructions for robust in vivo parallel MR imaging.

The simultaneous acquisition of spatial harmonics (SMASH) imaging technique uses spatial information from an array of RF coils to substitute for omitted encoding gradient steps and thereby to accelerate MR image acquisition. Since SMASH image reconstructions rely on the accurate generation of sinusoidally varying composite sensitivity functions to emulate the spatial modulations produced by gradients, the technique was originally believed to be limited to certain image planes or coil array configurations which were particularly suited to the generation of spatial harmonics. Several key improvements to the SMASH reconstruction procedure are described, taking advantage of various degrees of freedom in the spatial harmonic fit. The use of tailored fitting procedures, in combination with a numerical conditioning approach based on new observations about noise propagation in the fit, are shown to allow high-quality SMASH image reconstructions in oblique and double-oblique image planes, both in phantoms and in high-resolution cardiac MR images. Magn Reson Med 44:243-251, 2000.

Heart↗
PubMed1994

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase.

We report on a method for ethidium bromide detection of FMR1 normal and premutation-size CGG triplet repeats. A set of PCR conditions has been optimized for the polymerase of the hyperthermophilic bacterium, Pyrococcus furiosus. Using this protocol, normal-size alleles ranging from 5 to 50 repeats, as well as most of premutation-size alleles, varying from > 50 to approximately 200 repeats, could be detected by ethidium bromide staining of agarose gels. Since the protocol requires neither autoradiography nor polyacrylamide gel electrophoresis, it promises to provide a rapid means for the exclusion of fragile X syndrome in males with mental retardation.

Base Sequence↗
PubMed2003

Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis.

The effect of the fragile X pre-mutation and full mutation categories, and FMRP deficits in these categories, on neurocognitive status, have been assessed in fragile X individuals from 144 extended families, which included fragile X individuals, as well as their non-fragile X relatives. Neuropsychological status was assessed by the Wechsler summary and subtest test scores. A modification of the maximum likelihood estimators for pedigree data that is resistant to outliers was used to analyze the data. The results have demonstrated the effect of large expansions of CGG repeat in the FMR1 (fragile X mental retardation 1) gene (full mutation) in decreasing full scale IQ (FSIQ), as well as several FSIQ-adjusted subtest scores in the performance domain. Moreover, the results have demonstrated significant cognitive deficits in male individuals with pre-mutation. FMRP depletion correlates strongly with neurocognitive status in the full mutation subjects. Evidence for the effect of FMRP in smaller expansions (pre-mutation) in reducing FSIQ, Performance and Verbal scores, as well as subtest scores in males, has also been obtained. The results are also suggestive of factors other than FMRP deficit which may determine some specific cognitive deficits in fragile X pre-mutation carriers. Genetic variance estimated from the models accounts for less than half of the total variance in FSIQ, and it varies widely between individual Wechsler subtests.

Female↗
PubMed1975

A new pelvic fragment from Swartkrans and the relationship between the robust and gracile australopithecines.

A recently discovered hominid pelvic fragment from Swartkrans (SK 3155) is described in detail with particular reference to the relationship of the two presently recognized forms of australopithecines in South Africa. Results of this examination and metrical analysis indicate that the acetabulum and iliac blade of the early hominids are similar to Homo sapiens except for a unique pattern of traits: a relatively small sacral articular surface, a relatively small acetabulum, a relatively large iliac fossa, and wide lateral splaying of the iliac blades. The new Swartkrans fossil expresses these traits more strongly than does the gracile australopithecine (Sts 14) and is therefore somewhat less similar to Homo sapiens but it is very unlike any pongid.

Acetabulum↗
PubMed1994

Postcranial robusticity in Homo. III: Ontogeny.

The influence of developmental factors on long-bone cross-sectional geometry and articular size in modern humans is investigated using two approaches: (1) an analysis of the effects of increased mechanical loading on long-bone structure when applied during different developmental periods, using data collected for a study of upper limb bone bilateral asymmetry in professional tennis players; and (2) an analysis of the relative timing of age changes in femoral dimensions among juveniles from the Pecos Pueblo Amerindian archaeological sample. Results of these analyses are used to interpret the femoral morphology of three pre-Recent Homo juveniles--the H. erectus KNM-WT 15000 and the archaic H. sapiens La Ferrassie 6 and Teshik-Tash 1--as well as observed differences in postcranial morphology between adult Recent and earlier Homo (Ruff et al., 1993). Our findings indicate the following: (1) There are age-related changes in long-bone diaphyseal envelope sensitivity to increased mechanical loading, with the periosteal envelope more responsive prior to mid-adolescence, and the endosteal envelope more responsive thereafter. The periosteal expansion and endosteal contraction of the diaphysis documented earlier for adult pre-Recent Homo relative to Recent humans (Ruff et al., 1993) is thus consistent with a developmental response to increased mechanical loading applied throughout life. The relatively large medullary cavity in the 11-12-year-old KNM-WT 15000 femur is also consistent with this model. However, the two archaic H. sapiens juveniles show relatively small medullary cavities, possibly indicating a modified developmental pattern in this group. (2) Articulations follow a growth pattern similar to that of long-bone length (and stature), while cross-sectional diaphyseal dimensions (cortical area, second moments of area) show a contrasting growth pattern, with slower initial growth from childhood through mid-adolescence, followed by a "catch-up" period that continues through early adulthood. This latter pattern is more similar to the growth curve for body weight, and may in fact partially reflect adaptation of the diaphysis to increased weight bearing. Because of these different growth patterns, articulations appear relatively large, and diaphyseal breadths relatively small during late childhood to mid-adolescence (i.e., about 9-13 years), when compared to adults from the same population. KNM-WT 15000 shows this same proportional difference from adult early Homo specimens, which is therefore interpreted as simply a developmental consequence of his age at death.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗