The Transformation Process of Fathers of Children with Disabilities: An Exploratory Case Study

While the vital role that fathers play in the development of their children is emphasized in recent literature, the majority of research relative to child development focuses on mothers. This imbalance is even more evident relative to research with parents of children with disabilities, leaving human service providers with few evidence based practices for appropriately addressing the needs of fathers raising children with disabilities. Research suggests that having a child with a disability, while challenging, can also have a significant positive impact on the family system and potentially offer a transformational experience for the parent. Guided by a theoretical model of transformational outcomes, the purpose of this qualitative case study was to investigate how two veteran fathers of children with disabilities describe their transformative process. Using qualitative inquiry methods, the fathers’ were interviewed and their narratives were transcribed and analyzed to discover emerging themes. Findings indicated that laughter was a prominent emotion throughout the narrative and that the fathers used both positive and negative descriptors to define their experiences. Implications of these findings for human service professionals supporting families of children with disabilities are discussed. Attending to the unique needs of fathers can improve the overall functionality of the family system

An Investigation of Spirituality in Person-Centered Planning for Adults With Intellectual/Developmental Disabilities

While research identifies spirituality and inclusion in a community of faith as key factors contributing to quality of life for many individuals in our society, people with disabilities are often not able to access this aspect of everyday life if they wish. To change this, four groups must come together: (1) individuals with disabilities; (2) faith communities; (3) families of people with disabilities; and (4) support service providers. Current research describes the efforts of faith communities and people with disabilities and their families relative to spiritual inclusion; however, little is known about how support service systems are addressing this topic. This study surveyed direct support professionals to examine their beliefs, perceptions, and practices regarding spirituality and its role in the person-centered planning process for people with disabilities. Results indicate professionals have a high level of support for including spirituality in person-centered planning; however, this attitude does not consistently transfer to their practices. Overcoming identified barriers and meeting the needs of professionals are discussed in the context of better inclusion of this quality of life aspect for people with disabilities

Canadian Families’ Decisions of Communication Options* for Children Who are Deaf or Hard of Hearing: An Initial Exploration

Communication is an essential aspect of human interaction and helps connect us to the people around us. The majority of children who are deaf or hard of hearing are born to hearing parents who are likely unfamiliar with hearing loss. These parents are then asked to make critical decisions about communication options for their children. It can be a challenging process but one that needs to be done quickly in order to capture the critical language development period. Little research has explored the factors associated with parents’ decisions about communication options for their children who are deaf or hard of hearing and no studies have been done specifically with Canadian parents. This exploratory survey design study examined the factors which influence Canadian parents’ decisions relative to communication options for their children who are deaf or hard of hearing. Results indicate that parents’ personal judgement and a desire for their child to be able to communicate with their family and be happy in their own unique lives were driving forces behind the decisions that were made. Confirming research conducted in other countries, Canadian parents use a combination of their own judgement, professionals’ opinions, the needs of their child and internal values to make communication option decisions. Implications of these results are discussed as they pertain to parent-professional partnerships and family-centered services

What Do You Meme? Meme Humor Comprehension in Adolescents with Language Disorder or Hearing Loss

Easy access to the internet allows adolescents to share humor, such as memes, via social media. This quasi-experimental study investigated whether there was a difference in the number of memes comprehended on an assessment test among adolescents who were typically developing, adolescents who were deaf or hard of hearing, and adolescents with language disorders. It also sought to determine if the meme’s picture, whether related to the text or unrelated, contributed to adolescents’ comprehension. Participants were given a short reading screening and a multiple-choice test of meme comprehension. Adolescents who were typically developing out-performed adolescents who were deaf or hard of hearing or who had language disorders. Supporting pictures did not appear to aid in meme comprehension. Findings from this study suggest the need for professionals to include direct instruction of humor when working with adolescents who are deaf or hard of hearing or who have language disorders

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes)

African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes. Whole genome sequencing, conducted on two unaffected parents and one affected offspring was compared to a variant database from 51 domestic cats and a Pallas cat, revealed 50 candidate variants that segregated concordantly with the PRA phenotype. Testing in additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ calmodulin-binding motif-containing protein-1 (IQCB1), the gene that encodes for nephrocystin-5 (NPHP5), had vision loss. The variant segregated concordantly in other related individuals within the pedigree supporting the identification of a recessively inherited early-onset feline PRA. Analysis of the black-footed cat studbook suggests additional captive cats are at risk. Genetic testing for IQCB1 and avoidance of matings between carriers should be added to the species survival plan for captive management

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nine loci newly associated with fasting glucose (in or near ADCY5, MADD, ADRA2A, CRY2, FADS1, GLIS3, SLC2A2, PROX1 and C2CD4B) and one influencing fasting insulin and HOMA-IR (near IGF1). We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. Within these loci, likely biological candidate genes influence signal transduction, cell proliferation, development, glucose-sensing and circadian regulation. Our results demonstrate that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes

Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing

State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment. The goal was to introduce state-of-the-art health care to cats using genomics and a precision medicine approach. To test the feasibility of a precision medicine approach in domestic cats, a single cat that presented to the University of Missouri, Veterinary Health Center with an undiagnosed neurologic disease was whole-genome sequenced. The DNA variants from the cat were compared to the DNA variant database produced by the 99 Lives Cat Genome Sequencing Consortium. Approximately 25× genomic coverage was produced for the cat. A predicted p.H441P missense mutation was identified in NPC1, the gene causing Niemann-Pick type C1 on cat chromosome D3.47456793 caused by an adenine-to-cytosine transversion, c.1322A>C. The cat was homozygous for the variant. The variant was not identified in any other 73 domestic and 9 wild felids in the sequence database or 190 additionally genotyped cats of various breeds. The successful effort suggested precision medicine is feasible for cats and other undiagnosed cats may benefit from a genomic analysis approach. The 99 Lives DNA variant database was sufficient but would benefit from additional cat sequences. Other cats with the mutation may be identified and could be introduced as a new biomedical model for NPC1. A genetic test could eliminate the disease variant from the population

Mechano-Electric Feedback in the Fish Heart

Mechanoelectric feedback (MEF) describes the modulation of electrical activity by mechanical activity. This may occur via the activation of mechanosensitive ion channels (MSCs). MEF has not previously been investigated in fish ventricular tissue even though fish can greatly increase ventricular end diastolic volume during exercise which should therefore provide a powerful mechanical stimulus for MEF.When the ventricles of extrinsically paced, isolated working trout hearts were dilated by increasing afterload, monophasic action potential (MAP) duration was significantly shortened at 25% repolarisation, unaltered at 50% repolarisation and significantly lengthened at 90% repolarisation. This observation is consistent with the activation of cationic non-selective MSCs (MSC(NS)s). We then cloned the trout ortholog of TRPC1, a candidate MSC(NS) and confirmed its presence in the trout heart.Our results have validated the use of MAP technology for the fish heart and suggest that, in common with amphibians and mammals, MEF operates in fish ventricular myocardium, possibly via the activation of mechanosensitive TRPC1 ion channels

Comprehensive Functional Analysis of Mycobacterium tuberculosis Toxin-Antitoxin Systems: Implications for Pathogenesis, Stress Responses, and Evolution

Toxin-antitoxin (TA) systems, stress-responsive genetic elements ubiquitous in microbial genomes, are unusually abundant in the major human pathogen Mycobacterium tuberculosis. Why M. tuberculosis has so many TA systems and what role they play in the unique biology of the pathogen is unknown. To address these questions, we have taken a comprehensive approach to identify and functionally characterize all the TA systems encoded in the M. tuberculosis genome. Here we show that 88 putative TA system candidates are present in M. tuberculosis, considerably more than previously thought. Comparative genomic analysis revealed that the vast majority of these systems are conserved in the M. tuberculosis complex (MTBC), but largely absent from other mycobacteria, including close relatives of M. tuberculosis. We found that many of the M. tuberculosis TA systems are located within discernable genomic islands and were thus likely acquired recently via horizontal gene transfer. We discovered a novel TA system located in the core genome that is conserved across the genus, suggesting that it may fulfill a role common to all mycobacteria. By expressing each of the putative TA systems in M. smegmatis, we demonstrate that 30 encode a functional toxin and its cognate antitoxin. We show that the toxins of the largest family of TA systems, VapBC, act by inhibiting translation via mRNA cleavage. Expression profiling demonstrated that four systems are specifically activated during stresses likely encountered in vivo, including hypoxia and phagocytosis by macrophages. The expansion and maintenance of TA genes in the MTBC, coupled with the finding that a subset is transcriptionally activated by stress, suggests that TA systems are important for M. tuberculosis pathogenesis

Meta-analysis of genome-wide association studies for extraversion:Findings from the Genetics of Personality Consortium

Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found at the single nucleotide polymorphism (SNP) level but there was one significant hit at the gene level for a long non-coding RNA site (LOC101928162). Genome-wide complex trait analysis in two large cohorts showed that the additive variance explained by common SNPs was not significantly different from zero, but polygenic risk scores, weighted using linkage information, significantly predicted extraversion scores in an independent cohort. These results show that extraversion is a highly polygenic personality trait, with an architecture possibly different from other complex human traits, including other personality traits. Future studies are required to further determine which genetic variants, by what modes of gene action, constitute the heritable nature of extraversion