Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations : Overlap of TWNK-related recessive disorders

Altres ajuts: This research was supported with cofounding from the European Regional Development Fund (ERDF), "A way to make Europe") (to IdC); S2017/BMD‑3721‑RAREGENOMICS‑CM from the Consejería de Educación e Investigación de la Comunidad de Madrid (to MAMP).Background: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. In some cases, patients present with a diversity of neurological signs. To date, mutations in six genes are known to cause Perrault syndrome, but they do not explain all clinically-diagnosed cases. In addition, the number of reported cases and the spectra of mutations are still small to establish conclusive genotype-phenotype correlations. Methods: Affected siblings from family SH19, who presented with features that were suggestive of Perrault syndrome, were subjected to audiological, neurological and gynecological examination. The genetic study included genotyping and haplotype analysis for microsatellite markers close to the genes involved in Perrault syndrome, whole-exome sequencing, and Sanger sequencing of the coding region of the TWNK gene. Results: Three siblings from family SH19 shared similar clinical features: childhood-onset bilateral sensorineural hearing impairment, which progressed to profound deafness in the second decade of life; neurological signs (spinocerebellar ataxia, polyneuropathy), with onset in the fourth decade of life in the two females and at age 20 years in the male; gonadal dysfunction with early cessation of menses in the two females. The genetic study revealed two compound heterozygous pathogenic mutations in the TWNK gene in the three affected subjects: c.85C>T (p.Arg29∗), previously reported in a case of hepatocerebral syndrome; and a novel missense mutation, c.1886C>T (p.Ser629Phe). Mutations segregated in the family according to an autosomal recessive inheritance pattern. Conclusions: Our results further illustrate the utility of genetic testing as a tool to confirm a tentative clinical diagnosis of Perrault syndrome. Studies on genotype-phenotype correlation from the hitherto reported cases indicate that patients with Perrault syndrome caused by TWNK mutations will manifest neurological signs in adulthood. Molecular and clinical characterization of novel cases of recessive disorders caused by TWNK mutations is strongly needed to get further insight into the genotype-phenotype correlations of a phenotypic continuum encompassing Perrault syndrome, infantile-onset spinocerebellar ataxia, and hepatocerebral syndrome

Testing the Parentâ Adolescent Acculturation Discrepancy Hypothesis: A Fiveâ Wave Longitudinal Study

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/134121/1/jora12214.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/134121/2/jora12214_am.pd

Longitudinal Trajectories of Family Functioning Among Recent Immigrant Adolescents and Parents: Links With Adolescent and Parent Cultural Stress, Emotional Wellâ Being, and Behavioral Health

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/148234/1/cdev12914.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/148234/2/cdev12914_am.pd

Polychaetes as biological indicators in Latin America and the Caribbean

Este artículo cuenta con una adenda, ver DOI: 10.47193/mafis.3422021010606.Los poliquetos (Annelida) son organismos en íntimo contacto con el sedimento donde viven y el agua sobrenadante. El estrés ambiental genera rápidas respuestas en estos organismos que se refleja en los individuos y sus poblaciones, por lo que se utilizan como indicadores biológicos de disturbios y de calidad ambiental. Los poliquetos han sido ampliamente utilizados en monitoreo ambiental y en bioensayos, y muchos estudios ecotoxicológicos se realizan con poliquetos. En casi todos los hábitats bentónicos estos organismos juegan un papel muy importante en la organización y estructura de las comunidades bentónicas y redes tróficas. Son un ítem fundamental en la alimentación de otros invertebrados y de aves migratorias y peces. Los poliquetos también tienen importancia económica para la industria farmacéutica, y de alimentos concentrados para especies marinas de cultivo (peces y crustáceos), en el campo médico y en la bioingeniería, además de la recreativa (acuarofilia, carnada) y por supuesto para el consumo humano. Varios de los índices de impacto ambiental y calidad ambiental existentes se basan en las características de tolerancia/sensibilidad de los organismos bentónicos, y muchos de ellos son poliquetos. Existen unos pocos trabajos de revisión de estos organismos como indicadores, pero todos en idioma inglés. Este trabajo muestra una actualización de los datos referidos a Latinoamérica y el Caribe, e incluye una amplia revisión bibliográfica.Polychaetes (Annelida) are in intimate contact with the sediment where they live and the supernatant water. Environmental stress generates rapid responses in these organisms that are reflected in individuals and their populations, so they are used as biological indicators of disturbance and environmental quality. Polychaetes have been widely used in environmental monitoring and bioassays and many ecotoxicological studies are carried out with polychaetes. In almost all benthic habitats, these organisms play a very important role in the organization and structure of benthic communities and trophic webs. They are a fundamental item in invertebrates feeding and for migratory birds and fishes. Polychaetes are also economically important for the pharmaceutical industry, as concentrated food for cultured marine species (fish and crustaceans), in the medical field and in bioengineering, as well as to recreational (aquarium, bait) and of course for human consumption. Several of the existing environmental impact and quality indices are based on the tolerance/sensitivity characteristics of benthic organisms, and many of them are polychaetes. There are a few revision works of these organisms as indicators, but they are written in English. This work shows an upgrade referring to Latin America including an extensive literature review

Individual and culture-level components of survey response styles: a multi-level analysis using cultural models of selfhood

Variations in acquiescence and extremity pose substantial threats to the validity of cross-cultural research that relies on survey methods. Individual and cultural correlates of response styles when using two contrasting types of response mode were investigated, drawing on data from 55 cultural groups across 33 nations. Using seven dimensions of self-other relatedness that have often been confounded within the broader distinction between independence and interdependence, our analysis yields more specific understandings of both individual- and culture-level variations in response style. When using a Likert scale response format, acquiescence is strongest among individuals seeing themselves as similar to others, and where cultural models of selfhood favour harmony, similarity with others and receptiveness to influence. However, when using Schwartz’s (2007) portrait-comparison response procedure, acquiescence is strongest among individuals seeing themselves as self-reliant but also connected to others, and where cultural models of selfhood favour self-reliance and self-consistency. Extreme responding varies less between the two types of response modes, and is most prevalent among individuals seeing themselves as self-reliant, and in cultures favouring self-reliance. Since both types of response mode elicit distinctive styles of response, it remains important to estimate and control for style effects to ensure valid comparisons

Being oneself through time: bases of self-continuity across 55 cultures

Self-continuity – the sense that one’s past, present, and future are meaningfully connected – is considered a defining feature of personal identity. However, bases of self-continuity may depend on cultural beliefs about personhood. In multilevel analyses of data from 7287 adults from 55 cultural groups in 33 nations, we tested a new tripartite theoretical model of bases of self-continuity. As expected, perceptions of stability, sense of narrative, and associative links to one’s past each contributed to predicting the extent to which people derived a sense of self-continuity from different aspects of their identities. Ways of constructing self-continuity were moderated by cultural and individual differences in mutable (vs. immutable) personhood beliefs – the belief that human attributes are malleable. Individuals with lower mutability beliefs based self-continuity more on stability; members of cultures where mutability beliefs were higher based self-continuity more on narrative. Bases of self-continuity were also moderated by cultural variation in contextualized (vs. decontextualized) personhood beliefs, indicating a link to cultural individualism-collectivism. Our results illustrate the cultural flexibility of the motive for self-continuity

Beyond the ‘East-West’ dichotomy: global variation in cultural models of selfhood

Markus and Kitayama’s (1991) theory of independent and interdependent self-construals had a major influence on social, personality, and developmental psychology by highlighting the role of culture in psychological processes. However, research has relied excessively on contrasts between North American and East Asian samples, and commonly used self-report measures of independence and interdependence frequently fail to show predicted cultural differences. We revisited the conceptualization and measurement of independent and interdependent self-construals in 2 large-scale multinational surveys, using improved methods for cross-cultural research. We developed (Study 1: N = 2924 students in 16 nations) and validated across cultures (Study 2: N = 7279 adults from 55 cultural groups in 33 nations) a new 7-dimensional model of self-reported ways of being independent or interdependent. Patterns of global variation support some of Markus and Kitayama’s predictions, but a simple contrast between independence and interdependence does not adequately capture the diverse models of selfhood that prevail in different world regions. Cultural groups emphasize different ways of being both independent and interdependent, depending on individualism-collectivism, national socioeconomic development, and religious heritage. Our 7-dimensional model will allow future researchers to test more accurately the implications of cultural models of selfhood for psychological processes in diverse ecocultural contexts

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Human Subjects Protection and Technology in Prevention Science: Selected Opportunities and Challenges

Internet-connected devices are changing the way people live, work, and relate to one another. For prevention scientists, technological advances create opportunities to promote the welfare of human subjects and society. The challenge is to obtain the benefits while minimizing risks. In this article, we use the guiding principles for ethical human subjects research and proposed changes to the Common Rule regulations, as a basis for discussing selected opportunities and challenges that new technologies present for prevention science. The benefits of conducting research with new populations, and at new levels of integration into participants’ daily lives, are presented along with five challenges along with technological and other solutions to strengthen the protections that we provide: (1) achieving adequate informed consent with procedures that are acceptable to participants in a digital age; (2) balancing opportunities for rapid development and broad reach, with gaining adequate understanding of population needs; (3) integrating data collection and intervention into participants’ lives while minimizing intrusiveness and fatigue; (4) setting appropriate expectations for responding to safety and suicide concerns; and (5) safeguarding newly available streams of sensitive data. Our goal is to promote collaboration between prevention scientists, institutional review boards, and community members to safely and ethically harness advancing technologies to strengthen impact of prevention science