KBG syndrome

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment

Global urban environmental change drives adaptation in white clover.

Urbanization transforms environments in ways that alter biological evolution. We examined whether urban environmental change drives parallel evolution by sampling 110,019 white clover plants from 6169 populations in 160 cities globally. Plants were assayed for a Mendelian antiherbivore defense that also affects tolerance to abiotic stressors. Urban-rural gradients were associated with the evolution of clines in defense in 47% of cities throughout the world. Variation in the strength of clines was explained by environmental changes in drought stress and vegetation cover that varied among cities. Sequencing 2074 genomes from 26 cities revealed that the evolution of urban-rural clines was best explained by adaptive evolution, but the degree of parallel adaptation varied among cities. Our results demonstrate that urbanization leads to adaptation at a global scale

The influence of work on the transition to retirement: A qualitative study

Introduction: Retirement from work is a complex process, with work influencing this transition. Occupational therapists can facilitate a meaningful occupational transition to retirement for better health and wellbeing in later life. This article explores (1) how work attributes influence and relate to the work-to-retirement transition stages, (2) the relationship of findings to the Model of Human Occupation volitional processes and (3) the potential occupational therapy role. Method: Semi-structured interviews were completed with retirees. In this qualitative study, themes were identified in relation to the work-to-retirement transition stages using thematic analysis with findings related to the Model of Human Occupation volitional processes. Findings: Eleven Australian participants (five females, six males) were recruited. Themes and sub-themes were identified within each stage of the work-to-retirement transition and collectively encapsulated all volitional processes. Themes were time to move on, taking action, ceasing work, feeling retired, letting go and work-related involvement. Conclusion: Work attributes related to personal factors, social factors, meaningful occupational engagement and the nexus of work and retirement influence all work-to-retirement transition stages. Volition assists in explaining the complexity of this transition. Occupational therapists can assist older workers to continue working or identify and implement meaningful occupations to replace work activities in retirement. © 2018, The Author(s) 2018