18 research outputs found
11. Why Live Tiny? A New Multi-dimensional Model
Over the past decade, living in tiny houses has become increasingly popular among Americans of all ages. While the lifestyle has received much attention through reality TV shows, blogs, and on social media sites recently (Ford & Gomez‐Lanier, 2017), little or no systematic research exists on what motivates individuals wanting to live “tiny”. To provide first insights into this new phenomenon, 30 people at varying stages of their tiny house journeys were interviewed. Audio recordings of the interviews (average interview: 67 mins) were transcribed and then analyzed in NVivo v11.0 using a blend of inductive and deductive coding strategies. Based on emerging themes, the authors develop a new multi-dimensional model of tiny living that centers around five core motivators of the Good Life: pursuit of autonomy, new experiences, sense of security, meaningful relationships, and value-consistent lifestyle. They conclude with a discussion on how prior strains and other structural forces can mediate this existential quest for the Good Life.
Key words: Tiny house, lifestyle, downsizing, good life, alternative lifestyle, minimalism
Ford, J., & Gomez‐Lanier, L. (2017). Are tiny homes here to stay? A review of literature on the tiny house movement. Family and Consumer Sciences Research Journal, 45(4), 394-405
Stronger Together: Tiny-housers’ Views of Community
Over the last decade, tiny homes (generally described as homes smaller than 500 ft2) have grown in popularity thanks to recent representation in the media (Ford and Gomez‐Lanier 2017). An increasing number of people have begun to adopt this reimagined way of living, and some tiny-housers have sought to live near other tiny-housers, forming tiny house communities (Kilman 2016, Mangold et al. Forthcoming). Little systematic research focusing on the tiny-housers views of community exists. To provide initial insights, 30 interviews were conducted with people at various stages in their tiny house journeys. The 30 interviews were transcribed and analyzed in Nvivo 11. Preliminary findings suggest that many of these tiny-housers want to redefine the normative American concept of community by rejecting sub-urban frameworks and borrowing elements from both strong place and interest-based community models. They seek to accomplish this vision through one or more of the following: (i) increased community participation, (ii) shared spaces and resources, and (iii) development of significant relationships with neighbors rooted in mutual support and frequent interaction. While participants strive for this type of community, they also insist upon a clear recognition of personal space and boundaries. Participants also express an interest in having diverse communities, yet desire to maintain many common interests and goals. These community elements are not entirely unique to the tiny house movement. The small space, however, both encourages and facilitates this kind of community participation.
Key words: Tiny house, lifestyle, downsizing, good life, alternative lifestyle, minimalism
Ford, Jasmine and Lilia Gomez‐Lanier. 2017. Are Tiny Homes Here to Stay? A Review of Literature on the Tiny House Movement. Family and Consumer Sciences Research Journal 45(4):394-405.
Kilman, Charlie. 2016. Small House, Big Impact: The Effect of Tiny Houses on Community and Environment. Undergraduate Journal of Humanistic Studies 2.
Mangold, Severin, Chelsey Willoughby, Devin Hing, Codey Collins and Toralf Zschau. Forthcoming. Why Live Tiny? A New Multi-Dimensional Model. Sociological Spectrum
The Great American Sing-Along: How Community Singing Influenced Early 20th Century American Communities
The early 20th-century community singing movement was an organized effort by music educators, composers, musicians, and others to refine the quality of American patriotism, morality, musical taste, and sense of interconnectedness, as well as to better define American culture. This movement resulted in the publication of 18 Songs for Community Singing, a songbook that included patriotic songs, Stephen Foster classics, and European folk songs. Simultaneously, the United States War Department led programs for establishing community singing. Eventually the music industry took the mantle of community singing to popularize and sell their products. Community singing soon manifested as the organ solo in picture palace programs and was widely discussed in trade publications by the mid-1920s. Organ solos aimed to reflect the audiences’ taste, yet the audiences’ taste and familiarity was defined by the community singing programs and the music industry. Consequently, the organ solos often featured a mixture of music, such as the contents of 18 Songs for Community Singing and commercial music. To better understand what organ solos reveal about early 20th-century American values, I have analyzed nearly 250 trade published reviews of organ solos from 1915 to 1927 that appeared in the Exhibitors Herald, Variety, and Motion Pictures News. Using the Database of American Sing-Along Repertoire, I have analyzed the content of the songs performed at these events, identifying frequent themes including African American stereotypes, nostalgia, patriotism, and love. I will discuss these themes and how organ solos effected American communities
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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN binding protein 2 (RANBP2)–associated acute necrotizing encephalopathy subtype 1 (ANE1). We provide clinical, genetic, and neuroradiological evidence that biallelic variants in ribonuclease inhibitor (RNH1) confer susceptibility to a distinctive ANE subtype.
This study aimed to evaluate clinical data, neuroradiological studies, genomic sequencing, and protein immunoblotting results in 8 children from 4 families who experienced acute febrile encephalopathy.
All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation treatments. Long-term outcomes varied from death to severe neurologic deficits to normal outcomes. The neuroradiological findings overlapped with ANE but had distinguishing features. All affected children had biallelic predicted damaging variants in RNH1: a subset that was studied had undetectable RNH1 protein. Incomplete penetrance of the RNH1 variants was evident in 1 family.
Biallelic variants in RNH1 confer susceptibility to a subtype of ANE (ANE2) in previously healthy children. Intensive immunological treatments may alter outcomes. Genomic sequencing in children with unexplained acute febrile encephalopathy can detect underlying genetic etiologies, such as RNH1, and improve outcomes in the probands and at-risk siblings
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
BackgroundHelios (encoded by IKZF2), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4+ regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.MethodsWe performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation combined with syndromic features including craniofacial differences, sensorineural hearing loss and congenital abnormalities.ResultsGenome sequencing revealed de novo heterozygous variants that alter the critical DNA-binding zinc fingers (ZFs) of Helios. Proband 1 had a tandem duplication of ZFs 2 and 3 in the DNA-binding domain of Helios (p.Gly136_Ser191dup) and Proband 2 had a missense variant impacting one of the key residues for specific base recognition and DNA interaction in ZF2 of Helios (p.Gly153Arg). Functional studies confirmed that both these variant proteins are expressed and that they interfere with the ability of the wild-type Helios protein to perform its canonical function—repressing IL2 transcription activity—in a dominant negative manner.ConclusionThis study is the first to describe dominant negative IKZF2 variants. These variants cause a novel genetic syndrome characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1 beta subunit of the cyclic AMP-dependent protein kinase A (PKA). Methods Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development. Results Recent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs. Conclusion Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11 variants and document the nature of the variants.We present a cohort of six probands with de novo and inherited nonsense/frameshift (4/6 patients) and missense (2/6) variants in GDF11. We generated gdf11 mutant zebrafish to model loss of gdf11 phenotypes and used an overexpression screen in Drosophila to test variant functionality.Patients with variants in GDF11 presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). gdf11 mutant zebrafish show craniofacial abnormalities and body segmentation defects that match some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants in our cohort are partial LOF variants.GDF11 is needed for human development, particularly neuronal development, and LOF GDF11 alleles can affect the development of numerous organs and tissues