Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very useful for identifying disease causal mutations. However, at present, most of the genes in the human genome have no disorder associated with them or have unknown function. This is presumably mostly due to the fact that homozygous LoF variants are not observed in outbred populations which are the main focus of large sequencing projects. However, another reason may be that many genes in the genome—even when completely “knocked out,” do not cause a distinct or defined phenotype. Here, we discuss the benefits and implications of studying consanguineous populations, as opposed to the traditional approach of analysing a subset of consanguineous families or individuals with disease. We suggest that studying consanguineous populations “as a whole” can speed up the characterisation of novel gene functions as well as indicating nonessential genes and/or regions in the human genome. We also suggest designing a single nucleotide variant (SNV) array to make the process more efficient.     

Helping Smokers Quit: The Smoking Cessation Leadership Center Engages Behavioral Health by Challenging Old Myths and Traditions

Smoking is much more common among persons with behavioral health conditions (mental illnesses and/or substance use disorders). Persons with these disorders are more likely to die from smoking-related causes than any other reason. Studies have shown that stopping smoking can improve mental health function, as well as improve outcomes for substance use disorders. Yet, for a variety of reasons, smoking cessation has not been integrated into the treatment of behavioral health conditions, and in many instances tobacco use was not only condoned but encouraged. Beginning in 2007, the Smoking Cessation Leadership Center (SCLC) began engaging relevant agencies in an attempt to stimulate more vigorous smoking cessation activities. Partners included the federal Substance Abuse and Mental Health Services Administration, advocacy organizations such as the National Alliance on Mental Illness and Community Anti-Drug Coalitions of America, and clinical groups such as the American Psychiatric Nurses Association, the American Psychiatric Association, American Psychological Association, National Council on Behavioral Health, and National Association of State Mental Health Program Directors. A signature program featured 16 individual state summits involving agencies and groups from multiple sectors, all aiming to lower smoking rates in behavioral health populations. These activities mark an evolving culture change within behavioral health.     

Microaggressions and marijuana use among college students

This study examines the association between exposure to microaggressions and marijuana use, using original survey data from a sample of racial/ethnic minority college students (n?=?332) from a large Division I university in the United States. Nearly all of our sample (96%) reported at least one experience with microaggressions in the past 6 months, while 33% reported using marijuana regularly. We modeled regular use of marijuana using multiple logistic regression, with consideration of sex, age, race/ethnicity, and microaggression scale scores as covariates. Age, sex, the microinvalidations subscale score, and the full microaggression scale score were significantly associated with marijuana use in our full models (p?p?=?.01; p?=?.02; p?=?.03, respectively). With each additional experience of microaggression, the odds of regular marijuana use increase. Academic communities may consider the primary prevention of discriminatory behavior when addressing student substance use.     

In the absence of hard data,Is soft data better than no data at all?

Where total anonymity and confidentiality were previously respected in drug research, a tendency towards the provision of “hard” data such as verifiable personal details seriously disadvantages researchers working with “hidden groups” who use drugs in a relatively problem free way. This particularly applies to those who use substances generally regarded as highly addictive and problematic, such as heroin. Funding for a follow-up to an earlier research project was sought; the original investigated non-problematic heroin users, whereas the chief aim of the follow-up was to examine “resilience” to the problems commonly associated with the use of heroin. An illustration of attempting to put the gathering of “hard” verifiable data into action is presented here along with the immediate consequences. Unsurprisingly, the response of potential participants to the idea of providing personal details was largely negative, as the perceived consequences of being “outed” as a heroin user were generally regarded as worse than any of the issues associated with the use of the drug itself. An irony of the situation is that this “resilience” may be due to participant refusal to compromise their anonymity. This raises some obvious ethical issues. A number of potential longer term consequences on substance use/misuse research are also discussed.     

Effects of Dietary Exposure to Zearalenone (ZEN) on Carp (Cyprinus carpio L.)

The mycotoxin zearalenone (ZEN) is frequently contaminating animal feeds including feed used in aquaculture. In the present study, the effects of dietary exposure to ZEN on carp (Cyprinus carpio L.) were investigated. ZEN at three different concentrations (low dose: 332 µg kg⁻¹, medium dose: 621 µg kg⁻¹ and high dose: 797 µg kg⁻¹ final feed, respectively) was administered to juvenile carp for four weeks. Additional groups received the mycotoxin for the same time period but were fed with the uncontaminated diet for two more weeks to examine the reversibility of the ZEN effects. No effects on growth were observed during the feeding trial, but effects on haematological parameters occurred. In addition, an influence on white blood cell counts was noted whereby granulocytes and monocytes were affected in fish treated with the medium and high dose ZEN diet. In muscle samples, marginal ZEN and α-zearalenol (α-ZEL) concentrations were detected. Furthermore, the genotoxic potential of ZEN was confirmed by analysing formation of micronuclei in erythrocytes. In contrast to previous reports on other fish species, estrogenic effects measured as vitellogenin concentrations in serum samples were not increased by dietary exposure to ZEN. This is probably due to the fact that ZEN is rapidly metabolized in carp.     

性病门诊外来人员就诊者性行为情况调查

目的了解性病门诊求医的外来人员的性行为及性病患病情况。方法对在性病门诊求医的外来人员进行问卷调查。结果未婚性行为率60.0%,第一次性行为发生在婚前率为47.6%,有2人以上性伴占46.8%,安全套使用率<50%。被调查者中性病患病率为37.1%。感染≥2次性病率为12.2%,占性病患病数的32.8%。结论应推广性病门诊规范化服务,采用各种宣传方式。提供健康信息,提高高危人群性病预防知识,转变态度并提倡安全性行为。