Clinical impact of splicing in neurodevelopmental disorders.

Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice variants outside of the canonical splice site has been challenging. Here, we discuss papers that improve such detection

A mixed methods study investigating sources of fertility and reproductive health information in the UK

OBJECTIVES: This study aimed to assess the different sources used by individuals when seeking fertility information in order to understand what's working, what isn't, and opportunities for improvement. METHODS: A mixed-method study was conducted via UK-wide cross-sectional survey and semi-structured interviews. 1082 survey-participants were recruited nationwide via online-newspaper and social-media adverts. Of those who agreed to follow-up interview, 35 were purposively sampled to reflect the diversity of gender, age-range, ethnicity and education. Tableau software was used for surveys and NVIVO for interviews. Interview data was transcribed and analysed via thematic framework analysis. RESULTS: Sources of information identified included: school-education; healthcare-professionals; internet, social-media, smartphone-apps, online-forums and blogs; family, friends, and communities; books, magazines, newspapers; fertility-products; workplace, communities and sexual-health clinics/centres, charities, and third-party organisations. Participants reported varying levels of access, reliability, and trust, in relation to these sources. Interview themes around veracity showed that healthcare-professionals were highly trusted but not easily accessible. The internet was very popular due to accessibility and perceived anonymity but untrusted, and "the plethora of information can be overwhelming." There were recurring themes around discomfort. A respondent recalled that her first discussion of sex with her mother was on her wedding night stating, "…Mum, I'm 28! And you're just discussing this with me now?" CONCLUSIONS: School education remains a consistent but sometimes inadequate source of fertility information. In addition to online-platforms and products based on robust scientific evidence, opportunities for improvement include using underexploited sources, such as workplace and community settings, with training for providers

Exploring fertility knowledge amongst healthcare professional and lay population groups in the UK: a mixed methods study.

As the average age of first-time parents continues to rise, there has been a concerted effort by educators, policy makers and several reproductive health groups to improve fertility awareness. This study explored fertility knowledge of lay men and women and healthcare professionals (HCPs) using the same test instrument, providing a new and unique perspective compared with previous studies. Results were obtained from 1082 survey respondents: 347 HCPs, 319 men and 413 women, 105 of whom were trying to conceive (TTC). A total of 35 interviewees were purposively sampled to include 9 HCPs, 13 men and 13 women from the reproductive age range and of varying ethnic and educational backgrounds. Interview data were transcribed and analysed using the framework method. The proportion of HCPs correctly answering the survey knowledge questions was 47.1 (95% CI = 41.7%, 52.5%) compared to 44.4% for women (95% CI = 38.9%, 50.1%); 49.9% (95% CI = 39.0, 59.9%) for women TTC; and 32.5% (95% CI = 27.1%, 37.9%) for men. HCPs were ranked as the most trusted source for seeking fertility information. Overall HCPs did not demonstrate better fertility knowledge than lay participants, with inconsistencies regarding where responsibility lies for providing the right information to patients. HCPs need to improve their knowledge about fertility to help improve patient's fertility awareness

The Mismatch Between Life Insurance Holdings and Financial Vulnerabilities: Evidence from the Survey of Consumer Finances

Using the 1995 Survey of Consumer Finances and an elaborate life-cycle model, we quantify the potential financial impact of each individual's death on his or her survivors, and we measure the degree to which life insurance moderates these consequences. Life insurance is essentially uncorrelated with financial vulnerability at every stage of the life cycle. As a result, the impact of insurance among at-risk households is modest, and substantial uninsured vulnerabilities are widespread, particularly among younger couples. Roughly two-thirds of poverty among surviving women and more than one-third of poverty among surviving men results from a failure to insure survivors against an undiminished living standard. We also identify a systematic gender bias: for any given level of financial vulnerability, couples provide significantly more protection for wives than for husbands.

The mismatch between life insurance holdings and financial vulnerabilities: evidence from the Survey of Consumer Finances

Using the 1995 Survey of Consumer Finances and an elaborate lifecycle model, we quantify the potential financial impact of each individual’s death on his or her survivors, and we measure the degree to which life insurance moderates these consequences. Life insurance is essentially uncorrelated with financial vulnerability at every stage of the life cycle. As a result, the impact of insurance among at-risk households is modest, and substantial uninsured vulnerabilities are widespread, particularly among younger couples. Roughly two-thirds of poverty among surviving women and more than one-third of poverty among surviving men results from a failure to insure survivors against an diminished living standard. We also identify a systematic gender bias: for any given level of financial vulnerability, couples provide significantly more protection for wives than for husbands.Insurance industry

What does family building mean? A qualitative exploration and a new definition: a UK-based study.

BACKGROUND: The importance of improving men's and women's knowledge of sexual and reproductive health has been emphasised in numerous global health policies. Fertility awareness literature highlights a disproportionately higher number of articles related to pregnancy-prevention compared to pregnancy-planning, which is justifiable in many contexts. However, recent concerted effort to improve fertility-awareness warrants a closer investigation of basic reproductive health terminologies. The objective of this study is to explore participants' views of "family building" and provide a definition. METHODS: We conducted 35 qualitative in-depth interviews on men, women and healthcare professionals who were sampled from a UK cross-sectional survey. We asked participants about terms such as 'family planning' and 'family building' to elicit views and explored the appropriateness of the term "family building." Data were transcribed and analysed via Framework analysis. RESULTS: When asked what 'family planning' meant to them, study participants stated that the term meant the avoidance of pregnancy. They viewed it as an "umbrella term for the use of contraception methods," that "paradoxically, the term family planning almost has a negative connotation regarding having a family," but could not state similar terminology for planning a family. Reasons cited for this perspective include the focus of school education and usage in clinical settings. CONCLUSIONS: In the absence of an explicit definition in literature, we generated a new definition for family building as follows: "Family building refers to the construction or formation of a family, which can include steps or actions taken by an individual towards having children. In contrast to family planning, the intent focuses on pregnancy planning and childbearing rather than pregnancy prevention. However, it can also include actions taken to space the number of children one has." Some balance in the global public health messages, including bridging the gap in reproductive health literature, policies, processes and practices may contribute to the effort to improve fertility knowledge. Use of appropriate terminologies help optimise reproductive health services in order to enable men and women achieve their desired fertility intentions, whatever they may be. Trial registration Not applicable

Income and Value Chain Activities in Informal Solid Waste Collection in Tandale, Dar es Salaam, Tanzania

This study investigated on income and value chain activities in informal solid waste collection in Tandale, Dar es Salaam. The study involved the samples of 83 individuals using a non-probability purposive technique. Data was collected using a closed questionnaire and open ended interview guide.  Data was analysed using descriptive statistics.  The study established that the youth engaged in the informal solid waste collection without knowledge and skills on the use of personal protective equipment in executing the waste collection. Young people engaged in the informal solid waste collection regardless their gender age and education status. However, participation varied according to gender as males highly engaged compared to females.  The decrease of number of waste collector was proportional to the increase of age. While primary education holders were leading in the informal solid waste collection, even university graduates participated. While the youth engaged in the informal solid collection were less respected by community members, they perceived source of income as a driving factor for engaging in solid waste collection. However, the amount generated was very minimal for sustainability especially in undertaking obligatory life requirements such as food, health care and personal servings.  The study recommends that the government should set appropriate policies and strategies in running waste management so that it can attract all age groups as a source of employment

EVALUASI PENGENDALIAN INTERN PENGADAAN BERAS PADA PERUSAHAAN UMUM BADAN URUSAN LOGISTIK KANTOR WILAYAH SULAWESI UTARA DAN GORONTALO

Perkembangan dunia semakin modern sehingga sangat membutuhkan pengendalian intern dalam perusahaan agar dapat berjalan sebagaimana mestinya. Perum Bulog Kanwil Sulawesi Utara dan Gorontalo dalam pengadaan harus meningkatkan pengendalian internal untuk mencapai tujuan. Penelitian ini bertujuan untuk pengendalian intern pengadaan beras Perum Bulog Kanwil Sulawesi Utara dan Gorontalo dengan COSO. Metode penelitian yang digunakan yaitu metode deskriptif kualitatif dengan menggunakan wawancara dan dokumentasi sebagai pengumpulan data. Hasil dari penelitian menunjukan bahwa kelima komponen pengendalian intern yang telah di tetapkan Perum Bulog Kanwil Sulawesi Utara dan Gorontalo sudah efektif dan sesuai dengan pengendalian intern COSO.Kata Kunci: Evaluasi, Pengendalian Intern, Pengadaan Beras