Technical Brokering of Immigrant Adolescents in Switzerland: A Developmental-Acculturative Perspective

In the present digital age, intrafamilial dynamics and adolescents’ support of their parents in media use (technical brokering, Katz, 2010) are increasing in attention. However, the significance of migration-specific processes in adolescents’ technical brokering is less understood. In immigrant families, adolescents’ technical brokering may help families in adapting to the host culture and in keeping contact with friends and family abroad. This study investigated differences in the level of technical brokering between German immigrant and native Swiss adolescents and tested whether migration-unrelated (family life) or migration-related (i.e., culture brokering, Tse, 1995) factors are better predictors of interindividual differences in technical brokering in high SES immigrant families. The sample comprised 301 adolescents in Switzerland: 136 German immigrant adolescents (average age = 15.3, 65% female) and 165 native Swiss adolescents (average age = 15.9, 61% female). Adolescents stated the frequency of technical brokering tasks as well as culture brokering and migration-related processes. The results revealed that German immigrant adolescents provided technical brokering more frequently than native Swiss adolescents. Hierarchical regressions confirmed that technical brokering in German immigrant families is best explained by adolescents’ supporting their family in mastering the transition to a new country, as predictors pertaining to culture brokering, and host culture orientation explained most of the variance. This interpretation received further support by an interaction effect showing that technical brokering is particularly frequent when adolescents act as a culture broker in families with substantial socio-cultural adaptation difficulties. This study complements an often deficit-oriented view on immigrant youth with a view of their active and constructive role in immigrant family processes.

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients

Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mutation (p.W322*) in CLCN1 and one undescribed mutation (p.R1463H) in SCN4A are segregating in this family. The CLCN1-p.W322* was also found in an unrelated family, in compound heterozygosity with the known CLCN1-p.G355R mutation. One reported mutation, SCN4A-p.T1313M, was found in a third family. Both CLCN1 mutations exhibited loss-of-function: CLCN1-p.W322* probably leads to a non-viable truncated protein; for CLCN1-p.G355R, we predict structural damage, triggering important steric clashes. The SCN4A-p.R1463H produced a positive shift in the steady-state inactivation increasing window currents and a faster recovery from inactivation. These gain-of-function effects are probably due to a disruption of interaction R1463-D1356, which destabilizes the voltage sensor domain (VSD) IV and increases the flexibility of the S4-S5 linker. Finally, modelling suggested that the p.T1313M induces a strong decrease in protein flexibility on the III-IV linker. This study demonstrates that CLCN1-p.W322* and SCN4A-p.R1463H mutations can act alone or in combination as inducers of myotonia. Their co-segregation highlights the necessity for carrying out deep genetic analysis to provide accurate genetic counseling and management of patients.

Contributions of Rare Gene Variants to Familial and Sporadic FSGS

BackgroundOver the past two decades, the importance of genetic factors in the development of FSGS has become increasingly clear. However, despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases.MethodsTo investigate mutations underlying FSGS, we sequenced 662 whole exomes from individuals with sporadic or familial FSGS. After quality control, we analyzed the exome data from 363 unrelated family units with sporadic or familial FSGS and compared this to data from 363 ancestry-matched controls. We used rare variant burden tests to evaluate known disease-associated genes and potential new genes.ResultsWe validated several FSGS-associated genes that show a marked enrichment of deleterious rare variants among the cases. However, for some genes previously reported as FSGS related, we identified rare variants at similar or higher frequencies in controls. After excluding such genes, 122 of 363 cases (33.6%) had rare variants in known disease-associated genes, but 30 of 363 controls (8.3%) also harbored rare variants that would be classified as “causal” if detected in cases; applying American College of Medical Genetics filtering guidelines (to reduce the rate of false-positive claims that a variant is disease related) yielded rates of 24.2% in cases and 5.5% in controls. Highly ranked new genes include SCAF1, SETD2, and LY9. Network analysis showed that top-ranked new genes were located closer than a random set of genes to known FSGS genes.ConclusionsAlthough our analysis validated many known FSGS-causing genes, we detected a nontrivial number of purported “disease-causing” variants in controls, implying that filtering is inadequate to allow clinical diagnosis and decision making. Genetic diagnosis in patients with FSGS is complicated by the nontrivial rate of variants in known FSGS genes among people without kidney disease.

When More Is Better: Multifamily Firms and Firm Performance

Does the presence of multiple and unrelated family controllers improve firm performance? Drawing on both agency and behavioral agency theories, we argue that multifamily firms outperform single-family firms since families in multifamily firms actively monitor owners’ socioemotional goals. Additionally, we suggest that a balanced distribution of control among the owning families facilitates the monitoring process. Finally, we argue that the focal relationship follows an inverted U-shaped pattern depending on the number of families controlling the firm. We test our hypotheses using a sample of Chilean publicly listed family firms. Our study extends current knowledge of the uniqueness of multifamily firms.

A large Late Miocene cetotheriid (Cetacea, Mysticeti) from the Netherlands clarifies the status of Tranatocetidae

Cetotheriidae are a group of small baleen whales (Mysticeti) that evolved alongside modern rorquals. They once enjoyed a nearly global distribution, but then largely went extinct during the Plio-Pleistocene. After languishing as a wastebasket taxon for more than a century, the concept of Cetotheriidae is now well established. Nevertheless, the clade remains notable for its variability, and its scope remains in flux. In particular, the recent referral of several traditional cetotheriids to a new and seemingly unrelated family, Tranatocetidae, has created major phylogenetic uncertainty. Here, we describe a new species of Tranatocetus, the type of Tranatocetidae, from the Late Miocene of the Netherlands. Tranatocetus maregermanicum sp. nov. clarifies several of the traits previously ascribed to this genus, and reveals distinctive auditory and mandibular morphologies suggesting cetotheriid affinities. This interpretation is supported by a large phylogenetic analysis, which mingles cetotheriids and tranatocetids within a unified clade. As a result, we suggest that both groups should be reintegrated into the single family Cetotheriidae.