The Rutgers Alcohol Problem Index: Measurement equivalence among college students in the U.S. and Mexico.

The Rutgers Alcohol Problem Index (RAPI) is widely used to assess alcohol-related problems among college students within the U.S. and internationally. Despite its wide usage, whether the RAPI similarly assesses alcohol-related problems among students in different countries has not been established. We begin to address this issue by evaluating responses to the RAPI for measurement equivalence across college students in the U.S. (European Americans and Mexican Americans, treated as separate groups) and Mexico (Mexicans). Toward this end, we evaluated the RAPI for Differential Item Functioning (DIF) within an item response theory framework. Our results showed DIF for 6 item severities, all but one of which differed as a function of country (U.S. vs. Mexico). Additional analyses showed that using a latent RAPI variable with no DIF assumed had no substantive consequences in terms of group mean differences and zero-order correlations with self-reported drinking behaviors. Similarly, when using observed RAPI scale scores, there were no substantive differences in terms of correlations. The observed scale scores, however, led to inaccurate mean comparisons. Based on our results, we recommend that scholars model the RAPI as a latent variable when conducting analyses. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

OBJECTIVE: To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate genes and population genetic admixture. STUDY DESIGN: Genotyping was performed in 389 families. Maternal, paternal and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males. RESULT: Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; P=0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; P=0.01). Gestational age associated with PTB in PGR rs1942836 at 32-36 weeks (P=0.0004). MtDNA sequencing determined 88 individuals had Amerindian consistent haplogroups. Two individuals had Amerindian Y-chromosome consistent haplotypes. CONCLUSION: This study replicates single locus fetal associations with PTB in PGR, maternal association in KCNN3, and demonstrates possible effects for divergent racial admixture on PTB.

Confirmatory factor analysis of the Brazilian version of the Drinking Motives Questionnaire-Revised (DMQ-R).

The main objective of this study was to evaluate the factor structure of the Brazilian version of the Drinking Motives Questionnaire-Revised (DMQ-R; Cooper, 1994) in a sample of 584 university students. A secondary goal was to investigate the relationships between motives and measures of alcohol use and drinking problems. The DMQ-R assesses four motive dimensions: social, enhancement, coping, and conformity. Confirmatory factor analysis supported a revised four-factor model identical to the original, with the exception of one item that did not load on its intended factor. Relative to coping and conformity motives, enhancement and social motives were strongly related to both alcohol use and drinking problems. Overall results indicate that the factor structure of the Brazilian DMQ-R parallels that observed in North America and Europe using the original English language DMQ-R, despite a distinct pattern of relationships with alcohol use and drinking problems.

Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only.

In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela) collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations) between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by population-specific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase) and RFC1 (reduced folate carrier 1) were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.

Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only

In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela) collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations) between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by population-specific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase) and RFC1 (reduced folate carrier 1) were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017) carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.

MSX1 and TGFB3 contribute to clefting in South America.

MSX1 and TGFB3 have been proposed as genes in which mutations may contribute to non-syndromic forms of oral clefts; however, an interaction between these genes has not been described. The present study attempts to detect transmission distortion of MSX1 and TGFB3 in 217 South American children from their respective mothers. With transmission disequilibrium test analysis, cleft lip with/without cleft palate, cleft lip with palate plus cleft palate only, and all datasets combined showed evidence of association with MSX1 (p = 0.004, p = 0.037, and p = 0.001, respectively). With likelihood ratio test analysis, "cleft lip only" showed association with MSX1 (p = 0.04) and "cleft palate only" with TGFB3 (p = 0.02). A joint analysis of MSX1 and TGFB3 suggested that there may be an interaction between these two loci to increase cleft susceptibility. These results suggest that MSX1 and TGFB3 mutations make a contribution to clefts in South American populations.

Evolving growth hormone deficiency in children with a subnormal secretion of growth hormone.

Three growth-retarded children with a normal growth hormone (GH) response to provocative tests, but subnormal 24-hour integrated concentrations of GH and insulin-like growth factor-binding protein 3 (IGF-BP3) are presented. Retesting 3 to 4 years later demonstrated a subnormal GH response to stimulation. The initial subnormal growth rate and IGF-BP3, despite a normal GH response to stimulation, may be secondary to a subnormal integrated concentration of GH.

Urinary iron speciation in nephrotic syndrome.

In nephrotic syndrome, iron is presented to the tubule fluid in a nonreactive form in association with transferrin as a result of the glomerular protein leak. At an alkaline pH, iron remains bound to transferrin throughout the nephron and is excreted as such in the urine. As urine pH decreases below 6, iron is dissociated from transferrin. In the dissociated form, iron exists in the urine in a soluble, ultrafiltrable, and labile state. It is suggested that iron is maintained in this state by chelation to a relatively small organic compound, such as citrate. This non-transferrin-bound iron is capable of catalyzing bleomycin degradation of DNA, suggesting that this labile form of iron is able to catalyze free radical formation and cause tubule cell injury. Urine from proteinuric states represents one of the few, if not only, biologic fluids containing large amounts of reactive iron species. This may explain the mechanism by which proteinuric states cause tubulointerstitial disease and renal failure.

Characterization of in vitro translated human mineralocorticoid receptor. Structure and activation.

The structures of the unactivated and activated mineralocorticoid receptors have been difficult to characterize because of receptor lability and steroid dissociation. Therefore, human mineralocorticoid receptor mRNA was translated in rabbit reticulocyte lysate in the presence and absence of [35S]methionine to compare the structure of [3H]aldosterone-bound and [35S]labeled receptor. In vitro synthesized receptor was able to specifically bind [3H]aldosterone. Unactivated [3H]aldosterone-bound and 60% of unactivated [35S]labeled receptor eluted from DEAE-cellulose with 250 mM salt and had a Rs of 72A. Forty percent of unactivated [35S]labeled receptor eluted from DEAE-cellulose with 100 mM salt and had a Rs of 54A. SDSPAGE showed intact hMR was present in both DEAE-cellulose eluates as three bands between M(r) 110,000-120,000. However, the low salt eluate contained less intact receptor and more lower MW bands. Neither [3H]aldosterone-bound nor [35S]labeled receptor was activated by incubation at 25 degrees C as readily as glucocorticoid receptor studied under identical conditions. Activated [3H]aldosterone-bound receptor eluted from DEAE-cellulose at 100 mM salt and had a Rs of 37A. After activation, 60% of [35S]labeled receptor eluted from DEAE-cellulose with 100 mM salt and had a Rs of 91A. SDS-PAGE of the high and low salt DEAE-cellulose eluates showed that 50% of intact receptor eluted in the low salt peak after activation. These data indicate that: 1. Some in vitro synthesized mineralocorticoid receptor assembles into the heteromeric unactivated form; 2. The remaining intact receptor remains monomeric and unable to bind steroid; 3. Activation causes dissociation of intact receptor from a larger complex; and 4. Activated receptor tends to aggregate.

Childhood handicap in Montserrat - abstract

Handicap in childhood is a worldwide phenomenon that is gaining an increasingly high priority as a health problem in developing countries. In Montserrat, prior to 1988, no attempt to define the prevalence, range or severity of handicap had been made. During February to April 1988, a programme of developmental screening in under-five-year-old children, with assessment of any identified problems, was introduced in Montserrat. As part of this programme, a register of handicapped children of all ages was compiled. Sixty children (2 per cent of approx. 3,000 children under 16 years old) with significant disability were identified. This was considerably more than local health workers expected. The main categories diagnosed were 12 with severe global disability, 21 with mental retardation, one with visual, hearing and speech problems only, 7 with physical disability and 3 with learning difficulties. Although all major handicapped children have probably been identified, these figures may still present an under-estimate; particularly of under-five-year-olds, who are not yet all screened, and school learning difficulties (surveys not yet completed). For realistic manpower and resource planning, it is essential that comprehensive handicap registers be compiled (AU)

Immunoregulatory defects in a family with selective IgA deficiency.

Defects in regulation of the humoral immune system were examined in a family with selective IgA deficiency. Two patients (mother and son) were clinically well and had selective abnormalities of B lymphocytes that can differentiate into IgA plasma cells plus specific T cell suppression of IgA production. One patient (daughter) had several clinical problems and received nine monthly transfusions of normal plasma. Prior to therapy, this patient had abnormal immunoregulation of both B and T lymphocyte population that cooperated in the formation of all cases of immunoglobulin-producing cells. After treatment, her clinical problems were resolved and her cellular abnormalities appeared identical in those in her mother and brother.