An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

We have identified a large multigenerational Austrian family displaying a novel form of X-linked recessive myopathy. Affected individuals develop an adult-onset scapulo-axio-peroneal myopathy with bent-spine syndrome characterized by specific atrophy of postural muscles along with pseudoathleticism or hypertrophy and cardiac involvement. Known X-linked myopathies were excluded by simple-tandem-repeat polymorphism (STRP) and single-nucleotide polymorphism (SNP) analysis, direct gene sequencing, and immunohistochemical analysis.

Risk of stroke for carotid endarterectomy patients with contralateral carotid occlusion.

The role of a contralateral carotid occlusion in the appearance of neurological complications after carotid endarterectomy (CEA) operations is a matter of some debate. In the North American Symptomatic Carotid Endarterectomy Trial, the risk of perioperative stroke was found to be higher in patients with a contralateral carotid occlusion. In a literature survey in 2004, however, a significantly increased risk of perioperative stroke was found in only one out of 17 studies on contralateral carotid occlusion patients.

Quality of life in Mexican-American children following a weight management program.

Objective: The objective was to evaluate quality of life (QOL) in at-risk-for-overweight and overweight Mexican-American children after participating in 6 months of intensive weight management or self-help.

Research Methods And Procedures: Eighty sixth- and seventh-grade at-risk-for-overweight (BMI >or=85th to <95th percentile) and overweight (BMI >or=95th percentile) Mexican-American children were randomly assigned to either intensive instructor-led intervention (ILI) or self-help (SH). The ILI condition included daily participation for 12 weeks in a school-based program comprised of nutrition education, physical activity, and behavior modification, followed by ongoing monthly maintenance.

Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia.

Introduction: Previously we suggested that the CHRNA7 polymorphism in nicotinic receptor genes, in particular the D15S1360 in CHRNA7, is associated with smoking in schizophrenia. Schizophrenia patients are usually heavy smokers. In this study we hypothesized that high-affinity nicotinic receptors are associated with smoking in such patients.

Contribution of SHANK3 mutations to autism spectrum disorder.

Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.

3'-UTR SIRF: a database for identifying clusters of whort interspersed repeats in 3' untranslated regions.

Background: Short (~5 nucleotides) interspersed repeats regulate several aspects of post-transcriptional gene expression. Previously we developed an algorithm (REPFIND) that assigns P-values to all repeated motifs in a given nucleic acid sequence and reliably identifies clusters of short CAC-containing motifs required for mRNA localization in Xenopus oocytes.

Description: In order to facilitate the identification of genes possessing clusters of repeats that regulate post-transcriptional aspects of gene expression in mammalian genes, we used REPFIND to create a database of all repeated motifs in the 3' untranslated regions (UTR) of genes from the Mammalian Gene Collection (MGC).

Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.

The present study looks at a paracentric inversion on chromosome 4 [inv(4)(q13;q25)] in members of a large schizophrenia kindred from Hong Kong, and the possibility of a susceptibility gene for schizophrenia at one of the inversion breakpoints. Fluorescence in situ hybridization with BAC and fosmid clones was used to determine the location of the 4q13 and 4q25 breakpoints, however bioinformatic analysis indicated that no known genes are directly disrupted by the breakpoints. We identified several putative genes and expressed sequence tags (ESTs) from around the breakpoint regions, and have characterized them further in order to determine whether they may represent full-length mRNAs that are disrupted by the inversion.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families.

Sequence variants within exon 1 of MECP2 occur in females with mental retardation.

A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system. This sequence encodes polyalanine and polyglycine stretches within the N-terminal portion of MeCP2, and may confer novel functional properties to the protein. We screened autism, mental retardation (MR), and control populations for sequence variation within this region, and identified variation in approximately 1% of MR cases screened (N = 1,410).

High-dose chromium(III) supplementation has no effects on body mass and composition while altering plasma hormone and triglycerides concentrations.

Chromium is generally believed to be an essential element and is often claimed to have value as a weight loss or muscle building agent. Recent studies in humans and rats have failed to demonstrate effects on body composition, although recent studies with pharmacological doses of the cation [Cr(III)3O(O2CCH2CH3)6(H2O)3]+ (or Cr3) (< or =1 mg Cr/kg body mass) in rats have noted a trend toward body mass loss and fat mass loss. Thus, the effects of large gavage doses of Cr3 (1-10 mg Cr/kg) on body mass, organ mass, food intake, and blood plasma variables (insulin, glucose, leptin, cholesterol, and triglycerides) were examined over a 10-wk period using male Sprague-Dawley rats.

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.

We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients.

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2.

Ethnic differences in symptom presentation of sexually abused girls.

Although researchers have begun to examine the issue of ethnic and cultural factors in childhood sexual abuse (CSA), relatively little has been done to look at possible ethnic and cultural differences in psychological symptoms related to CSA. This study investigated the relationship between ethnicity and symptom presentation among Hispanic, African American, and Caucasian sexually abused girls. The study examined the relationship between ethnicity and depression, ethnicity and post-trauma intrusive symptoms, and ethnicity and post-trauma avoidance symptoms.

Nutritional supplement chromium picolinate generates chromosomal aberrations and impedes progeny development in Drosophila melanogaster.

Chromium picolinate, [Cr(pic)(3)], is a popular nutritional supplement found in a variety of consumer products. Despite its popularity, safety concerns over its use have arisen. The supplement has been shown to generate clastogenic damage, mitochondrial damage, oxidative damage, and mutagenic effects in cultured cells and oxidative DNA damage and lipid peroxidation in rats.

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

Chromosomal deletions on chromosome 7p are associated with Greig cephalopolysyndactyly syndrome (GCPS, OMIM 175700) a syndrome affecting the development of the skull, face, and limbs. We have compared data from molecular cytogenetic and genetic analyses with clinical symptoms from five previously published GCPS deletion patients, including a pair of monozygotic twins. The genomic DNA of the probands and their parents, as well as the DNA from monoallelic cell lines of two patients, was analyzed using microsatellite markers.

Low-molecular-weight chromium-binding substance from chicken liver and American alligator liver.

Low-molecular-weight chromium-binding substance (LMWCr), also known as chromodulin, is a chromium-binding oligopeptide proposed to have a function in chromium transport and insulin signaling in mammals. In this work, LMWCr has been isolated and purified for the first time from non-mammalian sources: chicken and American alligator. Milligram quantities of the oligopeptide can be obtained from kilogram quantities of liver.

Gender differences in the relative age effect among US olympic development program youth soccer players.

A large body of research has shown that a disproportionate number of elite youth male soccer players competing in age-segmented competition are born early in the selection year. The advantage of being born early in a cohort has been termed the "relative age effect". Although there has been an exponential growth in women's soccer, few studies have examined the relative age effect in female youth soccer.

Understanding generations: political economy and culture in an ageing society.

Sociological understanding of generations can be enhanced by avoiding defining them rigidly as chronological cohorts but rather linking people's accounts of their generational experience with an historically informed political economy. It then becomes possible, for example, to understand the complexity of generational politics. This paper uses data on the 'War Generation' taken from the Exeter Politics of Old Age project to link an empirically based political economy of generational inequality with a cultural sociology of generations.

Clinical stringency greatly improves mutation detection in Rett syndrome.

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder of girls, caused by mutations in the X-linked MECP2 gene. Worldwide recognition of the RTT clinical phenotype in the early 1980's allowed many cases to be diagnosed, and established RTT as one of the most common mental retardation syndromes in females. The years since then led to a refinement of the phenotype and the recent elaboration of Revised Diagnostic Criteria (RDC).

Eplerenone reduces mortality 30 days after randomization following acute myocardial infarction in patients with left ventricular systolic dysfunction and heart failure.

Objectives: This study sought to assess the impact of the selective aldosterone blocker eplerenone on mortality 30 days after randomization in patients after acute myocardial infarction (AMI) with a left ventricular ejection fraction (LVEF) < or =40% and clinical signs of heart failure.

Background: In the Eplerenone Post-Acute Myocardial Infarction Heart Failure Efficacy and Survival Study (EPHESUS), eplerenone reduced all-cause mortality by 15% (p = 0.008) over a mean follow-up of 16 months when used with standard therapy in patients after AMI with an LVEF < or =40% and clinical signs of heart failure.

Influence of range of motion in resistance training in women: early phase adaptations.

The purpose of this investigation was to compare partial range-of-motion versus full range-of-motion training in the development of maximal upper-body strength in women. A 1 repetition maximum bench press was used as the criterion measurement. A 10-week, 2 days per week training regimen was used.

Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region.

The higher prevalence of autism in males than in females suggests the possible involvement of the X chromosome. To test the hypothesis that there are mutations increasing susceptibility to autism on the X chromosome, and in particular the distal portion of the long arm that encompasses the FMRI and MECP2 loci, a genetic linkage study was performed. Twenty-two fragile X-negative families multiplex for autism and related disorders were used for the study.

The time-dependent transport of chromium in adult rats from the bloodstream to the urine.

While chromium was proposed to be an essential trace element over 40 years ago and if essential should possess a specific transport and distribution mechanism, the details of its transport from the bloodstream to the urine have not been elucidated. However, chromium is known to be maintained in the bloodstream bound to transferrin and to be excreted in the urine bound to the oligopeptide chromodulin or a similar chromodulin-like species. Injection of (51)Cr-labeled transferrin into the bloodstream resulted in a rapid and insulin-sensitive movement of chromium into the tissues as Cr transferrin; greater than 50% of the Cr is transported to the tissues within 30 min.

Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment.

Neurocognitive deficits are recognized as a cardinal feature of schizophrenia. Atypical antipsychotics have high affinity for many neurotransmitter receptors. Among these receptors, antipsychotics are antagonists of adrenoceptors, and this pharmacological property has been postulated to be involved in the mechanism of action of antipsychotics.

Oral administration of the biomimetic [Cr3O(O2CCH2CH3)6(H2O)3]+ increases insulin sensitivity and improves blood plasma variables in healthy and type 2 diabetic rats.

The in vivo effects of gavage administration of the synthetic, functional biomimetic cation [Cr(3)O(O(2)CCH(2)CH(3))(6)(H(2)O)(3)](+) to healthy and type 2 diabetic model rats are described. After 24 weeks of treatment (0-1,000 microg Cr/kg body mass) of healthy Sprague Dawley rats, the cation results in a lowering (P < 0.05) of fasting blood plasma low-density lipoprotein (LDL) cholesterol, total cholesterol, triglycerides, and insulin levels and of 2-h plasma insulin and glucose concentrations after a glucose challenge.