Major gene and multifactorial inheritance of mandibular prognathism

Mandibular prognathism typically shows familial aggregation. Various genetic models have been described and it is assumed to be a multifactorial and polygenic trait, with a threshold for expression. Our goal was to examine specific genetic models of the familial transmission of this trait. The study sample comprised of 2,562 individuals from 55 families. Complete family histories for each proband were ascertained and the affection status of relatives were confirmed by lateral cephalograms, photographs, and dental models. Pedigrees were drawn using PELICAN and complex segregation analysis was performed using POINTER. Parts of some pedigrees were excluded to create one founder pedigrees, so the total N was 2,050. Analysis showed more affected females than males (P = 0.030). The majority of the pedigrees suggest autosomal dominant inheritance. Incomplete penetrance was demonstrated by the ratio of affected/unaffected parents and siblings. The heritability of mandibular prognathism was estimated to be 0.316. We conclude that there is a major gene that influences the expression of mandibular prognathism with clear signs of Mendelian inheritance and a multifactorial component. (C) 2007 Wiley-Liss, Inc.

O impacto da sucessão familiar e de fatores contextuais sobre a estratégia de marketing de uma pequena empresa: um estudo de caso da Ferragens Hauer em Curitiba

Provar a influência da família (sucessão, laços de parentesco e relacionamento intra-familial) e de fatores contextuais à empresa (leis, política, guerras, aspectos culturais, econômicos e sociais) sobre .a empresa Ferragens Hauer, sobre a sua estratégia de Marketing e sobre o resultado de vendas ao longo de 105 anos -1888-1993.

Compreendendo a dinâmica familiar de adolescentes expostos a violência sexual intrafamiliar

Violence in adolescence, specifically sexual violence, is a topic of great relevance. Not only in Brazil but the world has witnessed the increase of sexual violence, becoming the most prevalent morbid occurrence in adolescence. Draws attention to the phenomenon of sexual violence against children and adolescents not only the fact that most of the victims are assaulted in their own home environment, but also the type of relationship between victim and aggressor. Thus, based on systemic approach, this study aimed to compose eend family dynamics of adolescent victims of sexual intra-familial. Participants were seven teenagers and their parents, users and beneficiaries of services offered by CREAS - Reference Center for Specialized Social Assistance in a municipality of Mato Grosso do Sul. The instruments used were the Test of Drawing in Colour of the Family (FCDT) and a questionnaire about the pictures taken and family interactions. The results indicated the difficulty in differentiating family roles, especially regarding the differentiation of the mother and daughter, a fact that seemed to be the motivator for the impoverishment of individuation in groups. Also noted the presence of conflict between the familiar figures probably originated from this abusive situation. In this context, the studied families showed communication difficulties between family members, hindering the integration between them, as well as the existence of an authoritarian leadership and strict rules performed by the father figure. These results may support preventive and therapeutic actions to situations of sexual violence against children and adolescents. Thus, it is suggested that psychological counseling for the study participants and other stakeholders with a view to reducing damage and recovery of quality of life for all family members, as well as the need for further studies in the area in question.

Criminal career-related factors among female robbers in the State of Sao Paulo, Brazil, and a presumed 'revolving-door' situation

Introduction: Risk-taking behaviors, family criminality, poverty, and poor parenting have been frequently associated with an earlier onset of criminal activities and a longer criminal career among male convicts. Objective: This study aims to identify factors related to the onset and recurrence of criminal behavior among female robbers in the State of Sao Paulo - Brazil. Method: It was a cross-sectional study carried out inside a feminine penitentiary in Sao Paulo. From June 2006 to June 2010, 175 inmates convicted only for robbery were recruited to be evaluated about family antecedents of criminal conviction, alcohol and drug misuse, impulsiveness, depressive symptoms, and psychosocial features. Results: Having family antecedents of criminal conviction consistently predicted an earlier onset of criminal activities and a longer criminal career among female robbers. Drug use in youth and the severity of drug misuse were significantly related to the initiation and recurrence of criminal behavior, respectively. Discussion: Prisons must systematically screen detainees and provide treatments for those with health problems in general. Children of inmates should obtain help to modify the negative consequences of their parents' incarceration in order to mitigate the negative consequences of pursuing this 'static' factor.

Genetic effects on alcohol dependence risk: re-evaluating the importance of psychiatric and other heritable risk factors

Background. Genetic influences have been shown to play a major role in determining the risk of alcohol dependence (AD) in both women and men; however, little attention has been directed to identifying the major sources of genetic variation in AD risk. Method. Diagnostic telephone interview data from young adult Australian twin pairs born between 1964 and 1971 were analyzed. Cox regression models were fitted to interview data from a total of 2708 complete twin pairs (690 MZ female, 485 MZ male, 500 DZ female, 384 DZ male, and 649 DZ female/male pairs). Structural equation models were fitted to determine the extent of residual genetic and environmental influences on AD risk while controlling for effects of sociodemographic and psychiatric predictors on risk. Results. Risk of AD was increased in males, in Roman Catholics, in those reporting a history of major depression, social anxiety problems, and conduct disorder, or (in females only) a history of suicide attempt and childhood sexual abuse; but was decreased in those reporting Baptist, Methodist, or Orthodox religion, in those who reported weekly church attendance, and in university-educated males. After allowing for the effects of sociodemographic and psychiatric predictors, 47 % (95 % CI 28-55) of the residual variance in alcoholism risk was attributable to additive genetic effects, 0 % (95 % CI 0-14) to shared environmental factors, and 53 % (95 % CI 45-63) to non-shared environmental influences. Conclusions. Controlling for other risk factors, substantial residual heritability of AD was observed, suggesting that psychiatric and other risk factors play a minor role in the inheritance of AD.

Assortative Mating for Cigarette Smoking and for Alcohol Consumption in Female Australian Twins and their Spouses

Background Non-random mating affects population variation for substance use and dependence. Developmentally, mate selection leading to positive spousal correlations for genetic similarity may result in increased risk for substance use and misuse in offspring. Mate selection varies by cohort and thus, assortative mating in one generation may produce marked changes in rates of substance use in the next. We aim to clarify the mechanisms contributing to spousal similarity for cigarette smoking and alcohol consumption. Methods Using data from female twins and their male spouses, we fit univariate and bivariate twin models to examine the contribution of primary assortative mating and reciprocal marital interaction to spousal resemblance for regular cigarette smoking and nicotine dependence, and for regular alcohol use and alcohol dependence. Results We found that assortative mating significantly influenced regular smoking, regular alcohol use, nicotine dependence and alcohol dependence. The bivariate models for cigarette smoking and alcohol consumption also highlighted the importance of primary assortative mating on all stages of cigarette smoking and alcohol consumption, with additional evidence for assortative mating across the two stages of alcohol consumption. Conclusions Women who regularly used, and subsequently were dependent on cigarettes or alcohol were more likely to marry men with similar behaviors. After mate selection had occurred, one partner's cigarette or alcohol involvement did not significantly modify the other partner's involvement with these psychoactive substances.

Sibling eating behaviours and differential child feeding practices reported by parents

The purpose of this study was to investigate the intra-familial relationships between parental reports of feeding practices used with siblings in the same family, and to evaluate whether differences in feeding practices are related to differences in siblings' eating behaviours. Eighty parents of two sibling children completed measures assessing their feeding practices and child eating behaviours. Parents reported using greater restrictive feeding practices with children who were fussier and desired to drink more than their sibling. Parents reported using more pressure to eat with siblings who were slower to eat, were fussier, emotionally under-ate, enjoyed food less, were less responsive to food, and were more responsive to internal satiety cues. Restriction and pressure to eat appear to be part of the non-shared environment which sibling children experience differently. These feeding practices may be used differently for children in the same family in response to child eating behaviours or other specific characteristics.

Apport d'un programme de génétique à une filière de production aquacole : l'exemple de l'ostréiculture

Two oyster species are currently present along the French coasts : the indigenous European flat oyster (Ostrea edulis), and the Pacific cupped oyster (Crassostrea gigas), that has been introduced from Japan since the beginning of the 70ies. The flat oyster successively suffered from two protozoan diseases during the 60ies and its production decreased from 20 000 tons/year by that time to 1 500 tons/year nowadays. Consequently, the oyster production is principally (99%) based upon the Pacific oyster species with approximately 150 000 tons/year among which 90% are grown from the natural spat. However, the hatchery production of this species is developing and was estimated to 400 to 800 millions spat in 2002. Moreover, strengthened relationships between IFREMER and the 5 commercial hatcheries, that all joined the SYSAAF (Union of the French poultry, shellfish and fish farming selectors), allow to plan for new genetic breeding programs. At the end of the 80ies, IFREMER initiated a genetic breeding program for the resistance of the European flat oyster to the bonamiosis, and obtained strains more tolerant to this disease. After two generations of massal selection, molecular markers had identified a reduced genetic basis in this program. It was then reoriented to an intra-familial selection. However, we were confronted to a zootechnic problem to manage such a scheme and we compromised by an intra-cohorts of families selection scheme managed using molecular markers. The program has now reached the transfer level with experimentation at a professional scale. Concerning the Pacific cupped oyster, and in parallel with the obtaining and the study of polyploids, performance of different Asian cupped oyster strains were compared to the one introduced in France thirty years ago and currently suffering from summer mortalities. The local strain exhibited better performance, certainly based upon a good local adaptation. In other respects, although early growth is a relevant criteria for selection for growth to commercial stage, it is not to be privileged in the context of an oyster producing region with a limited food availability. Contrary, the spat summer mortality became a priority for numerous teams (genetic, physiology, pathology, ecology,...) joined in the MOREST program. The first results showed important survival differences between fullsib and halsib families. They indicate a genetic determinism to this character "survival" and promote for its selection.

Violência institucional e responsabilidade profissional na resposta ao abuso sexual de crianças

Apresenta-se como um artigo de construção teórica, no qual se explora teoricamente o conceito de violência institucional na relação com os limites da responsabilidade profissional por omissão ou por incorrecto procedimento profissional. A reflexão é realizada tendo por base a análise do funcionamento do sistema de justiça na articulação com o sistema de protecção na resposta ao crime de abuso sexual intra-familiar de crianças na comarca de Lisboa. Apresenta-se um conjunto sistematizado de factores de atrito, identificados como principais elementos promotores de violência institucional no quadro da intervenção profissional realizada no contexto das entidades sociais de intervenção nos abusos sexuais de crianças, organizados segundo as categorias de dispositivos e procedimentos.

Familial influence on offspring gambling: a cognitive mechanism for transmission of gambling behavior in families

Background. The problem-gambling literature has identified a range of individual, cognitive, behavioral and emotional factors as playing important roles in the development, maintenance and treatment of problem gambling. However, familial factors have often been neglected. The current study aims to investigate the possible influence of parental factors on offspring gambling behavior. Method. A total of 189 families (546 individuals) completed several questionnaires including the South Oaks Gambling Screen (SOGS) and the Gambling Related Cognition Scale (GRCS). The relationships were examined using Pearson product-moment correlations and structural equation modeling (SEM) analyses. Results. Results showed that generally parents' (especially fathers') gambling cognitions and gambling behaviors positively correlated with offspring gambling behaviors and cognitions. However, SEM analyses showed that although parental gambling behavior was directly related to offspring gambling behavior, parental cognitions were not related to offspring gambling behavior directly but indirectly via offspring cognitions. Conclusion. The findings show that the influence of parental gambling cognition on offspring gambling behavior is indirect and via offspring cognitions. The results suggest a possible cognitive mechanism of transmission of gambling behavior in the family from one generation to the next.

Desmoid tumor in patients with familial adenomatous polyposis

CONTEXT: Desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. The development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. OBJECTIVES: To evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to present patient outcome. METHODS: Between 1984 and 2008, 68 patients underwent colectomy for familial adenomatous polyposis at the School of Medical Sciences Teaching Hospital, University of Campinas, SP, Brazil. Desmoid tumors were found in nine (13.2%) of these patients, who were studied retrospectively by consulting their medical charts with respect to clinical and surgical data. RESULTS: Of nine patients, seven (77.8%) were submitted to laparotomy for tumor resection. Median age at the time of surgery was 33.9 years (range 22-51 years). Desmoid tumors were found in the abdominal wall in 3/9 cases (33.3%) and in an intra-abdominal site in the remaining six cases (66.7%). Median time elapsed between ileal pouch-anal anastomosis and diagnosis of desmoid tumor was 37.5 months (range 14-60 months), while the median time between colectomy with ileorectal anastomosis and diagnosis was 63.7 months (range 25-116 months). In 6/9 (66.7%) patients with desmoid tumors, the disease was either under control or there was no evidence of tumor recurrence at a follow-up visit made a mean of 63.1 months later (range 12-240 months). CONCLUSIONS: Desmoid tumors were found in 13.2% of cases of familial adenomatous polyposis following colectomy; therefore, familial adenomatous polyposis patients should be followed-up and surveillance should include abdominal examination to detect signs and symptoms. Treatment options include surgery and clinical management with antiestrogens, antiinflammatory drugs or chemotherapy.

Familial neuromyelitis optica

Background: Detection of aquaporin-4-specific immunoglobulin G (IgG) has expanded the spectrum of neuromyelitis optica (NMO). Rare reports of familial aggregation have suggested a component of genetic susceptibility but these reports mostly antedated the discovery of the NMO-IgG biomarker and recently updated diagnostic criteria. Methods: We report a case series describing the demographic, clinical, neuroimaging, and NMO-IgG serologic status of 12 multiplex NMO pedigrees with a total of 25 affected individuals. Results: Twenty-one patients (84%) were women. Families were Asian (n = 5), Latino (n = 4), white (n = 1), or African (n = 2). Apparent transmission was either maternal (n = 5) or paternal (n = 2). In 1 family, 3 individuals had NMO; in the others, 2 individuals were affected. Sibling pairs (n = 6), parent-child (n = 4), and aunt-niece (n = 3) pairs were observed. Nineteen patients (76%) were NMO-IgG positive. Twelve (48%) had clinical or serologic evidence of another autoimmune disease. Familial occurrence of NMO occurs in approximately 3% of patients with well-established diagnosis of NMO. Conclusions: A small proportion of patients with NMO have relatives with this condition, but familial occurrence is more common than would be expected from its frequency in the general population. Familial NMO is indistinguishable from sporadic NMO based on clinical symptoms, age at onset, sex distribution, and frequency of NMO-IgG detection. One or 2 generations were affected and affected individuals represented a small fraction of family members. Taken together, these data suggest complex genetic susceptibility in NMO. Neurology (R) 2010;75:310-315

Re-infestation of houses by Triatoma dimidiata after intra-domicile insecticide application in the Yucatán peninsula, Mexico

In most countries, Chagas disease transmission control remains based on domestic insecticide application. We thus evaluated the efficacy of intra-domicile cyfluthrin spraying for the control of Triatoma dimidiata, the only Chagas disease vector in the Yucatán peninsula, Mexico, and monitored potential re-infestation every 15 days for up to 9 months. We found that there was a re-infestation of houses by adult bugs starting 4 months after insecticide application, possibly from sylvatic/peridomicile areas. This points out the need to take into account the potential dispersal of sylvatic/peridomestic adult bugs into the domiciles as well as continuity action for an effective vector control.

Active transmission of human chagas disease in Colima Mexico

Despite efforts to eradicate American trypanosomiasis (AT) and Chagas disease from the Americas, there are still areas of active transmission that can eventually become a source of reinfection in previously controlled regions. Mexico could be one of those areas, where there are no formal preventive control programs despite the presence of communities infested by Triatominae bugs infected with Trypanosoma cruzi. This study explored the prevalence of T. cruzi infection in 405 habitants of 17 communities in the state of Colima, on the Pacific Mexican coast, through a seroepidemiological probabilistic survey. The results revealed a point seroprevalence of 2.4% positive for anti-T. cruzi. In addition, 2 clinical cases of chronic and 2 of acute Chagas disease were detected in the explored communities. These findings confirm the risk of active transmission of AT in Western Mexico, especially in rural and suburban communities infested with intra-domestic triatominae, where control programs should be implemented.