Segregation analysis of diastolic blood pressure in a large pedigree

Hypertension, a major risk factor for cardiovascular diseases, is thought to be inherited to some extent. However, the nature of its genetic component remains unresolved. In the present study, data from a single large kindred (the HGAR1 pedigree) were used to search for evidence of single gene and multifactorial effects on diastolic blood pressure. Commingling analyses found that a mixture of three distributions fit the data significantly better than a single normal distribution, suggesting a major effect influencing diastolic blood pressure levels. However, segregation analysis, using regressive models, indicated that the transmission probabilities were not consistent with Mendelian expectations. There was no evidence of either major gene or polygenic effects on diastolic blood pressure levels in this family. © 1993 Wiley-Liss, Inc.     

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program

Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in the Commonwealth of Virginia. Two unrelated probands were identified among the 81,243 newborn infants who were screened. In addition, two siblings of one of these infants were found to be affected. Both probands had mild neurologic symptoms at two and four months, respectively, and the two older children had more severe neurologic abnormalities, cutaneous findings, and developmental delay at two and three years of age. However, none of the affected children had acute metabolic decompensation. Previous studies have shown that the administration of biotin to affected children can be a lifesaving procedure that can reverse acute symptoms and prevent irreversible neurologic damage. Our findings demonstrate that subtle neurologic abnormalities may appear as early as at two months of age and that developmental abnormalities may occur even in the absence of episodes of overt metabolic decompensation. Since screening and treatment are both inexpensive and effective and the incidence of the disease is well within the range of that of other metabolic diseases for which screening is performed, biotinidase deficiency should be added to the group of metabolic diseases for which screening is done in the neonatal period.     

The impact of violence and abuse on women's physical health: Can trauma‐informed treatment make a difference?

A history of traumatic experiences has been associated with poor physical health. This study examined associations between trauma and physical health, as well as changes in physical health over time, in women with co‐occurring disorders and histories of violence who received either integrated trauma‐informed services or usual care. Results revealed that women who had experienced more severe trauma also suffered worse physical health and were more likely to engage in poor health behaviors. Receiving behavioral health care services was associated with improved physical health and health behaviors. Predictors of physical health improvements included reduced interpersonal abuse, reduced severity of posttraumatic symptoms, improved health behaviors, and adequate access to medical care. Implications for primary, secondary, and tertiary prevention are discussed.     

Kobaltwirkungen am Menschen

Journal of Molecular Medicine -     

Substanz P im Blut

Ohne ZusammenfassungMit 3 Textabbildungen.     

In Vitro Alveolar Macrophage Viability

A simple, rapid method was developed for the determination of in vitro alveolar macrophage viability after exposure to gases. Air pollutants such as ozone, sulfur dioxide, and oxides of nitrogen killed alveolar macrophages, as determined by the dye exclusion test. Ozone (O₃) was effective at very low concentrations. Other gases such as carbon dioxide (CO₂), carbon monoxide (CO), methane (CH₄), methyl chloride (CH₃Cl), acrolein, acetaldehyde, acetone, isoprene, benzene, and hydrocyanic acid (HCN) had no effect on cell viability.     

Comparison of Novel and Existing Methods for Detection of Linkage Disequilibrium Using Parent‐Child Trios in the GAW12 Genetic Isolate Simulated Data

A novel method for joint detection of association caused by linkage disequilibrium (LD) and estimation of both recombination fraction and linkage disequilibrium parameters was compared to several existing implementations of the transmission/disequilibrium test (TDT) and modifications of the TDT in the simulated genetic isolate data from Genetic Analysis Workshop 12. The first completely genotyped trio of affected child and parents was selected from each family in each replicate so that the TDT tests are valid tests of linkage and association, rather than being only valid as tests for linkage. In general, power to detect LD using the genome‐wide scan markers was inadequate in the individual replicate samples, but the power was better when analyzing several SNP markers in candidate gene 1. © 2001 Wiley‐Liss, Inc.     

Die Beeinflussung des tierexperimentellen Exophthalmus durch verschiedene Hormone

Zusammenfassung Durch thyreotropes Hormon kann bei Karpfen ein Exophthalmus ausgelöst werden, wobei eine gewisse Dosisabhängigkeit besteht. Eine Reihe der Proteinhormone des Hypophysenvorderlappens wie Corticotropin und Gonadotropin, maximal aber das vollsynthetische ^1–24-Corticotropin, potenzieren die exophthalmogene Wirkung des TSH, während die biologisch inaktiven Fragmente des Corticotropin, ^4–10- und ^11–24-Corticotropin diese synergistische Wirkung vermissen lassen.d-Thyroxin und Diäthylstilboestrol, aber auchl-Thyroxin und Prednisolon hemmen den durch TSH ausgelösten Exophthalmus. Hieraus wird gefolgert, daß die Proteinhormone des Hypophysenvorderlappens synergistisch mit TSH exophthalmogen wirken, während eine Reihe der durch Proteinhormone stimulierten Hormone den Exophthalmus hemmen.

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Summary Thyreotropic hormone was observed to produce an exophthalmos in carps with a certain dose-response relationship. Some of the hormones of the anterior pituitary e.g. corticotropic and gonadotropic but mostly the synthetic ^1–24 corticotropic hormone increase the exophthalmogenic activity of TSH where as the biologic inactive fragments of the corticotropic hormone ( ^4–10 and ^11–24) have no effect on TSH induced exophthalmos in this respect.d-Thyroxin and Diäthylstilboestrol but alsol-Thyroxin and Prednisolon inhibit the development of the experimental exophthalmos. This leads to the conclusion that the hormones of the anterior pituitary exert a facilitatory influence on the response to EPS stimulation by TSH while some of the hormones have the opposite effect.

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