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Focuses on the cultured lymphoblastoid cell lines (LCL) collected from different world populations. Creation an LCL panel; Maximum number of LCL from a population; Implications of the panel for discovering single nucleotide polymorphisms.

Presents information on the equipment and procedures for the treatment of anaphylaxis. Clinical manifestations; Causes; Details of the major cases of anaphylaxis; Management; Stages of therapy to counter the release of allergic mediator substances.

Reports a case of an infant with hydrometrocolpos, vaginal atresia, and polydactyly born to first cousin parents. Results of the physical and radiologic examination of the infant; Review of related literature.

Discusses issues on the prescription of generic drugs. Focuses on issues concerning generic prescribing. Bioavailability of a drug product; Stance of the Committee on Drugs of the American Academy of Pediatrics on generic prescribing; Duty of physicians to patients.

Presents a review by the Committee on Drugs of the American Academy of Pediatrics on the use of iodides in the therapy of asthma and other pulmonary diseases in infants. Dosage recommendations of potassium iodides; Effectiveness of iodides; Effects of iodides on the thyroid; Recommendations.

Presents alternative treatments for short stature without organic disease. Counseling; Body building; Synthetic steroids.

Examines the application of antibiotics in treating acne. Questions raised concerning the rationale for the form of treatment; Evidence established to support the hypothesis on the case; Dosage for antibiotic treatment.

Discusses the status of the package insert used on drugs prescribed for children in the U.S. in the 1970s. Definition of package insert according to the Federal Food, Drug and Cosmetic Law; Legality of prescribing drugs with package inserts; Factors that influence a company to establish a policy on package inserts.

Explores the administration of pharmacologic agents to children with learning impediments or disabilities. Reasons for the difficulties posed by the chemotherapeutic approach; Vocabulary used in the classification of learning impediments; Factors influencing the validity of conclusions reached on the effectiveness of drugs on learning impediments.

An obituary for Nobel Prize winner Jean B. Dausset is presented.

Focuses on the inaccuracies in the measurement and administration of drugs to children. Reasons liquid doses may be inaccurate; Effectiveness of using oral syringe in administering drugs to children; Recommendation from the United States Food and Drug Administration's Committee on Drugs.

Discusses the health implications of the use of tetracyclines in children during 1973. Amount of tetracyclines that were certified by the United States Food and Drug Administration; Implications of the tetracycline deposits identified in the deciduous molars of children ages 3 to 5 in Great Britain.

Large-scale sequencing efforts have documented extensive genetic variation within the human genome. However, our understanding of the origins, global distribution, and functional consequences of this variation is far from complete. While regulatory variation influencing gene expression has been studied within a handful of populations, the breadth of transcriptome differences across diverse human populations has not been systematically analyzed. To better understand the spectrum of gene expression variation, alternative splicing, and the population genetics of regulatory variation in humans, we have sequenced the genomes, exomes, and transcriptomes of EBV transformed lymphoblastoid cell lines derived from 45 individuals in the Human Genome Diversity Panel (HGDP). The populations sampled span the geographic breadth of human migration history and include Namibian San, Mbuti Pygmies of the Democratic Republic of Congo, Algerian Mozabites, Pathan of Pakistan, Cambodians of East Asia, Yakut of Siberia, and Mayans of Mexico. We discover that approximately 25.0% of the variation in gene expression found amongst individuals can be attributed to population differences. However, we find few genes that are systematically differentially expressed among populations. Of this population-specific variation, 75.5% is due to expression rather than splicing variability, and we find few genes with strong evidence for differential splicing across populations. Allelic expression analyses indicate that previously mapped common regulatory variants identified in eight populations from the International Haplotype Map Phase 3 project have similar effects in our seven sampled HGDP populations, suggesting that the cellular effects of common variants are shared across diverse populations. Together, these results provide a resource for studies analyzing functional differences across populations by estimating the degree of shared gene expression, alternative splicing, and regulatory genetics across populations from the broadest points of human migration history yet sampled. [ABSTRACT FROM AUTHOR]

VKORC1 (vitamin K epoxide reductase complex subunit 1, 16p11.2) is the main genetic determinant of human response to oral anticoagulants of antivitamin K type (AVK). This gene was recently suggested to be a putative target of positive selection in East Asian populations. In this study, we genotyped the HGDP-CEPH Panel for six VKORC1 SNPs and downloaded chromosome 16 genotypes from the HGDP-CEPH database in order to characterize the geographic distribution of footprints of positive selection within and around this locus. A unique VKORC1 haplotype carrying the promoter mutation associated with AVK sensitivity showed especially high frequencies in all the 17 HGDP-CEPH East Asian population samples. VKORC1 and 24 neighboring genes were found to lie in a 505 kb region of strong linkage disequilibrium in these populations. Patterns of allele frequency differentiation and haplotype structure suggest that this genomic region has been submitted to a near complete selective sweep in all East Asian populations and only in this geographic area. The most extreme scores of the different selection tests are found within a smaller 45 kb region that contains VKORC1 and three other genes (BCKDK, MYST1 (KAT8), and PRSS8) with different functions. Because of the strong linkage disequilibrium, it is not possible to determine if VKORC1 or one of the three other genes is the target of this strong positive selection that could explain present-day differences among human populations in AVK dose requirement. Our results show that the extended region surrounding a presumable single target of positive selection should be analyzed for genetic variation in a wide range of genetically diverse populations in order to account for other neighboring and confounding selective events and the hitchhiking effect. [ABSTRACT FROM AUTHOR]

Human genetic diversity is shaped by both demographic and biological factors and has fundamental implications for understanding the genetic basis of diseases. We studied 938 unrelated individuals from 51 populations of the Human Genome Diversity Panel at 650,000 common single-nucleotide polymorphism loci. Individual ancestry and population substructure were detectable with very high resolution. The relationship between haplotype heterozygosity and geography was consistent with the hypothesis of a serial founder effect with a single origin in sub-Saharan Africa. In addition, we observed a pattern of ancestral allele frequency distributions that reflects variation in population dynamics among geographic regions. This data set allows the most comprehensive characterization to date of human genetic variation. [ABSTRACT FROM AUTHOR]

The innate immunity system constitutes the first line of host defense against pathogens. Two closely related innate immunity genes, CD209 and CD209L, are particularly interesting because they directly recognize a plethora of pathogens, including bacteria, viruses, and parasites. Both genes, which result from an ancient duplication, possess a neck region, made up of seven repeats of 23 amino acids each, known to play a major role in the pathogen-binding properties of these proteins. To explore the extent to which pathogens have exerted selective pressures on these innate immunity genes, we resequenced them in a group of samples from sub-Saharan Africa, Europe, and East Asia. Moreover, variation in the number of repeats of the neck region was defined in the entire Human Genome Diversity Panel for both genes. Our results, which are based on diversity levels, neutrality tests, population genetic distances, and neck-region length variation, provide genetic evidence that CD209 has been under a strong selective constraint that prevents accumulation of any amino acid changes, whereas CD209L variability has most likely been shaped by the action of balancing selection in non-African populations. In addition, our data point to the neck region as the functional target of such selective pressures: CD209 presents a constant size in the neck region populationwide, whereas CD209L presents an excess of length variation, particularly in non-African populations. An additional interesting observation came from the coalescent-based CD209 gene tree, whose binary topology and time depth (∼2.8 million years ago) are compatible with an ancestral population structure in Africa. Altogether, our study has revealed that even a short segment of the human genome can uncover an extraordinarily complex evolutionary history, including different pathogen pressures on host genes as well as traces of admixture among archaic hominid populations. [ABSTRACT FROM AUTHOR]

We studied human population structure using genotypes at 377 autosomal microsatellite loci in 1056 individuals from 52 populations. Within-population differences among individuals account for 93 to 95% of genetic variation; differences among major groups constitute only 3 to 5%. Nevertheless, without using prior information about the origins of individuals, we identified six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations. General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies. [ABSTRACT FROM AUTHOR]

A 3-year-old boy with radio-ulnar synostosis and mild mental retardation was found to have a 48/XXXY chromosome constitution in blood and skin cultures without evidence of mosaicism. Autoradiography of the cultured cells identified two late-labeling X-chromosomes. His buccal smear revealed double and single sex chromatin bodies. The patient and his family were studied for segregation of Xg blood types which are controlled genes. This revealed the father to be Xg(a+), a positive hemizygote; the mother Xg(a-) was homozygous negative; and the proband was Xg(a-). These findings suggest that the three X-chromosomes of the proband came from his mother. It is proposed that nondisjunction occurred at both the first and second meiotic divisions of oogenesis, producing a triple-X (XXX) ovum which was then fertilized by the paternal Y-bearing sperm. This communication represents the first reported case of the XXXY syndrome in which informative cytogenetic evaluation has been obtained. [ABSTRACT FROM AUTHOR]

Presents a letter to the editor about a national DNA bank in The Gambia, West Africa, and genomic research in developing countries.