Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha- crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.      

Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection

Since the first reports of successful pregnancies after treatment with intracytoplasmic sperm injection (ICSI) in humans numerous attempts have been made to assess the genetic risks of this highly invasive technique. During the study period (February 1995-November 96), 142 couples were referred to our genetic counselling unit prior to ICSI. In three couples, genetic counselling revealed a high recurrence risk for a monogenic disease (myotonic dystrophy, hereditary ataxia and polycystic kidney disease). In nine out of 128 men (7%) an abnormal karyotype was identified, including three Robertsonian translocations, two reciprocal translocations, three sex chromosome aberrations and one case with centric fission of chromosome no. 7. A total of 14 men refused chromosomal analysis. Only one of the 122 women examined had an abnormal karyotype (47, XXX). Five out of six men with congenital bilateral absence of the vas deferens (CBAVD) had at least one mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Three had mutations in both CFTR alleles, including one case in which the second mutation was the 5T allele. One patient with CBAVD and a single Delta F508 CFTR mutation also had left renal agenesis. In conclusion, we strongly recommend that genetic counselling, chromosomal analysis and, in the case of CBAVD, screening for CFTR mutations should be offered to all couples with a diagnosis of male or idiopathic infertility.      

Using social indicators to inform community drug and alcohol prevention policy

In recent years, the federal government has begun to require state agencies to allocate drug prevention resources according to the needs of local communities. The methods by which this is to be accomplished have not been described, and most published social indicator studies in the field of drug abuse research have used county-level data which are too insensitive to local needs to be of use in resource allocation decisions. The present study describes a needs assessment in drug abuse prevention in the state of New Jersey using municipal-level social indicator data. In addition, it examines the extent to which the resource allocation of one state prevention agency can be predicted by the municipal-level social indicators. Thirty-six social indicators pertaining to 508 municipalities were used in the study, and data were analyzed using principal component analysis and hierarchical regression analysis. Five factors were extracted from the principal component analysis, two of which clearly describe "high risk" municipalities and one of which clearly describes "low risk" municipalities. The regression analysis showed that these factors explained very little of the variance in the state agency's drug prevention spending. The study shows that social indicators can be used to distinguish between different levels of need for drug prevention services at a municipal level, and that these data can be used to inform decisions concerning resource allocation.     

Empirically supported treatments in pediatric psychology: recurrent pediatric headache

OBJECTIVE: To review the empirical research examining behavioral treatments for recurrent pediatric headache. METHODS: Thirty-one investigations published after 1980 were reviewed using predetermined criteria to evaluate the adequacy of research methodologies. A modification of criteria proposed for evaluating the efficacy of psychological interventions for adults (Task Force on Promotion and Dissemination of Psychological Procedures, 1995) was used to evaluate the adequacy of evidence available for individual intervention strategies. RESULTS: Sufficient evidence exists to conclude that relaxation/self-hypnosis is a well-established and efficacious treatment for recurrent headache. Furthermore, enough evidence exists to conclude that thermal biofeedback alone is a probably efficacious treatment. Other promising interventions have been tested that combine relaxation and biofeedback or integrate other cognitive-behavioral treatment approaches, but are limited by inadequate research methodologies. CONCLUSIONS: We discuss the importance of developmentally based conceptual models and the impact of diagnostic heterogeneity and offer specific recommendations for future intervention research in the area of recurrent pediatric headache.      

Air pollution exposure during critical time periods in gestation and alterations in cord blood lymphocyte distribution: a cohort of livebirths

Background  

Toxic exposures have been shown to influence maturation of the immune system during gestation. This study investigates the association between cord blood lymphocyte proportions and maternal exposure to air pollution during each gestational month.     

Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium

Clinical and neonatal screening methods using a tandem mass spectrometer are clearly a model for modern laboratory testing in the new Millennium. By the year 2000, more than 1 million blood and plasma samples will have been tested in laboratories throughout the world for a battery of metabolic disorders using a tandem mass spectrometer as the primary analytical device. A tandem mass spectrometer is considered the ultimate analytical detector in a variety of biochemical and clinical methods because of its very high accuracy, selectivity, precision, versatility and robust nature. The ability to achieve very high and reproducible sample throughput (∼600 samples/ instrument/24 h) has made this technology cost-effective for newborn screening. In order to reliably measure markers of inborn errors of metabolism while maintaining low costs and high efficiency, accuracy and quality, much attention needs to be placed on monitoring and maintenance of all components of the entire testing system. These components include specimen collection and sample preparation methods, analysis by LC tandem mass spectrometry, conversion of raw mass spectra (data) into clinically meaningful results (concentration), expert interpretation of these results so that the clinician can be provided with information to facilitate a diagnose, and follow-up and education so that the maximum benefits of newborn screening translate into prevention of disease symptoms or more effective treatments. Addressing each part of the whole system will produce a quality screening program that will detect a battery of disorders using tandem mass spectrometry with a disease frequency of nearly 1 in 4000 infants.     

The regulatory role of interleukin 2-responsive T lymphocytes on human marrow granulopoiesis

The effect of recombinant interleukin 2 (IL2) on marrow CFU-C colony formation was evaluated to define the role for T lymphocytes in human marrow granulopoiesis. The colony-stimulating factor (CSA) used in our experiments was found to contain IL2. IL2 depletion from CSA resulted in a reduction in CFU-C colony proliferation. Addition of exogenous IL2 caused an increase in CFU-C colony numbers in a dose-dependent manner. This increase could be prevented by anti-Tac, a monoclonal antibody (MoAb) to the IL2 receptor. Moreover, anti-Tac in the absence of exogenous IL2 resulted in an overall decrease in colony numbers. Depletion of either adherent cells or T lymphocytes abolished the effect of IL2 and anti-Tac on colony growth. In the presence of IL2, re- addition of T lymphocytes to the T-depleted marrow or adherent cells to adherent cell-depleted marrow resulted in a significant increase in CFU- C colony numbers, whereas no significant effect was found when IL2- depleted CSA was used. Although T lymphocytes were not themselves essential for CFU-C colony growth, our studies indicate that IL2 and IL2-responsive T cells can regulate in vitro granulopoiesis.     

Drinking and driving: pre-driving attitudes and perceptions among Brazilian youth

The aim of this study was to investigate driving under the influence of alcohol (DUI) risk profiles and predictors in a sample of pre-driving Brazilian youth, in the context of Brazil's new Traffic Code. Data were obtained in the Traffic Department in S?o Paulo from a sample of 2166 individuals. Subjects displayed a low level of knowledge about the laws and few believed the penalties would actually be enforced for those engaging in DUI. Findings suggest that changes in DUI laws in Brazil and elsewhere should be accompanied by enforcement and education in order to enhance levels of knowledge and credibility of the sanctions.