Genetic factors

The introduction of highly active antiretroviral therapy (also known as combination therapy) has transformed the nature of HIV infection from a severe and ultimately fatal disease to that of a manageable chronic condition. HIV drugs are highly efficacious, but their use comes at ...

Urinary incontinence (UI), the involuntary leakage of urine due to the loss or weakened control of the urinary sphincter, is a crucial subject of medicine that has physiological, psychological, and sociological complications [25]. Urinary incontinence can range from mild leakage to an overflow amount of urine. Although this is a common problem affecting millions of Americans, it is not often a subject of discussion because it can be embarrassing for people to talk about, even with their physicians [2]. Physiologically unpleasant for patients, UI can also be emotionally demeaning, decreasing self-concept and perceived body image. UI can be divided into transient (acute) incontinence and chronic incontinence; they both have significant effects on the patient despite one lasting longer than the other. Causes of incontinence can originate from a variety of causes. Research indicates urinary incontinence may be related to genetic factors, biological aspects, and physiological characteristics [14]. Treatment for incontinence includes behavioral, pharmacological, and surgical interventions, as well as catheterization. Appropriate treatment is based the individual's current situation and follows evaluation of which treatment option will provide the best opportunity for the highest quality of life.

Genetic factors have historically been thought of as important in the development of obsessive–compulsive disorder (OCD). For the estimation of the relative importance of genetic and environmental factors, twin studies are an obvious approach. Twin studies of OCD have a long history, starting in 1929. In this review, over 70 years of twin research of OCD is presented, using four different approaches that represent the steps in the twin research of OCD from past to present. These steps include (1) case-studies of twins with OCD from the old literature; (2) twin studies of OCD usingDiagnostic and Statistical Manual of Mental Disorders(DSM) criteria; (3) twin studies of OCD using a dimensional approach, comparing resemblances in monozygotic and dizygotic twins; and (4) twin studies of OCD using a dimensional approach, analyzing the data with Structural Equation Modeling. It is concluded that only the studies using the last method have convincingly shown that, in children, obsessive–com...

Epithelial ovarian cancer is known to aggregate in families. The dominantly inherited ovarian cancer predisposing genes, BRCA1, BRCA2 and genes involved in the hereditary non-polyposis colorectal cancer (HNPCC) syndrome, have recently been identified. However, in the majority of families with more than one case of ovarian cancer, dominant inheritance cannot be recognized. We investigated familial clustering of epithelial ovarian cancer in a population-based sample of 663 Finnish ovarian cancer patients. A segregation analysis with the POINTER software was conducted on the 937 nuclear families from these 663 pedigrees. The major gene model was favoured, and the sporadic and multifactorial models were strongly rejected. In the studied population, the best fitting model was a recessive mode of inheritance, and 8% of ovarian cancer patients were estimated to be homozygous for the deleterious genotype. This evidence for recessively inherited ovarian cancer predisposition should be interp...

Historically, authoritarian attitudes have been attributed to influences within the rearing environment, based on the incorrect assumption that similarity between family members demonstrates cultural transmission. To unconfound environmental and genetic influences, this paper ...

Peer relationships are commonly thought to be critical for adolescent socialization, including the development of negative health behaviors such as alcohol and tobacco use. The interplay between genetic liability and peer influences on the development of adolescent alcohol and tobacco use was examined using a nationally-representative sample of adolescent sibling pairs and their best friends. Genetic factors, some of them related to an adolescent's own substance use and some of them independent of use, were ...

Physiological responses to high altitude hypoxia are complex and involve a range of mechanisms some of which occur within minutes of oxygen deprivation while others reset a cascade of biosynthetic and physiological programs within the cellular milieu. The O2 sensitive events occur at various organisational levels in the body: at the level of organism through an increase in alveolar ventilation involving interaction of chemoreceptors, the respiratory control centers in the medulla and the respiratory muscles and the lung/chest wall systems; at tissue level through the pulmonary vascular smooth muscle constriction and coronary and cerebral vessel vasodilation leading to optimized blood flow to tissues; at cellular level through release of neurotransmitters by the glomus cells of the carotid body, secretion of erythropoietin hormone by kidney and liver cells and release of vascular growth factors by parenchymal cells in many tissues; at molecular level there is expression/activation of...

Personality dimensions have been associated with symptoms dimensions in schizophrenic patients (SP). In this paper we study the relationships between symptoms of functional psychoses and personality dimensions in SP and their first-degree relatives (SR), in other psychotic patients (PP) and their first-degree relatives (PR), and in healthy controls in order to evaluate the possible clinical dimensionality of these disorders. Twenty-nine SP, 29 SR, 18 PP, 18 PR and 188 controls were assessed using the temperament and character inventory (TCI-R). Current symptoms were evaluated with positive and negative syndrome scale (PANSS) using the five-factor model described previously (positive [PF], negative [NF], disorganized [DF], excitement [EF] and anxiety/depression [ADF]). Our TCI-R results showed that patients had different personality dimensions from the control group, but in relatives, these scores were not different from controls. With regard to symptomatology, we highlight the relat...

The origin of diversification and coexistence of genes and species have been traditionally studied in isolated biological levels. Ecological and evolutionary views have focused on the mechanisms that enable or constrain species coexistence, genetic variation and the genetics of speciation, but a unified theory linking those approaches is still missing. Here we introduce evolutionary graphs in the context of neutral theories of molecular evolution and biodiversity to provide a framework that simultaneously addresses speciation rate and joint genetic and species diversities. To illuminate this question we also study two models of evolution on graphs with fitness differences, which provide insights on how genetic and ecological dynamics drive the speed of diversification. Neutral evolution generates the highest speed of speciation, species richness (i.e. five times and twice as many species as compared to genetic and ecological graphs, respectively) and genetic--species diversity (i.e....

Cholesteatoma is a destructive lesion of the temporal bone that gradually expands and causes compli-cations by erosion of the adjacent bony structures. Bone resorption can result in destruction of the ossicular chain and otic capsule with consecutive hearing loss, ...

Resolution of the genetic components of complex disorders may require simultaneous analysis of the contribution of individual quantitative trait loci (QTLs) to multiple variables. A likelihood approach is used to illustrate how the complexities of multivariate data may be resolved with multipoint linkage analysis. Sibling pair data were simulated from a model in which two QTLs and trait-specific polygenic effects explained all the sibling resemblance within and between five variables. Multipoint linkage analysis was used to obtain individual pair probabilities of having zero, one, or two alleles identical by descent, and these probabilities were applied in a weighted maximum-likelihood fit function. The results were compared with those obtained using conventional linear structural equation modeling to estimate the contribution of latent genetic factors to the genetic covariance in the multiple measures. Both analyses were conducted using the Mx package. Relatively poor agreement was found between genetic factors defined in purely statistical terms by varimax rotation of the first two factors of the genetic covariance matrix and the structure obtained by fitting a model jointly to the phenotypic and the multipoint linkage data.

Research on antecedents of organized attachment has focused on the quality of caregiving received during childhood. In recent years, research has begun to examine the influence of genetic factors on quality of infant attachment. However, no published studies report on the association between specific genetic factors and adult attachment. This study examined the link between the 5-HTTLPR promoter polymorphism of the serotonin transporter gene and adult unresolved attachment assessed with the Adult Attachment Interview. Genetic material and information on attachment-related loss or trauma were available for 86 participants. Multivariate regression analyses showed an association between the short 5-HTTLPR allele and increased risk for unresolved attachment. Temperament traits and psychological symptoms did not affect the association between 5-HTTLPR and unresolved attachment. The authors hypothesize that the increased susceptibility to unresolved attachment among carriers of the short ...