12 research outputs found
The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study
BACKGROUND/OBJECTIVES: Retinoblastoma is a common childhood intraocular malignancy, the bilateral form of which most commonly results from a de novo germline pathogenic variant in the RB1 gene. Both advanced maternal age and decreasing birth order are known to increase the risk of de novo germline pathogenic variants, while the influence of national wealth is understudied. This cohort study aimed to retrospectively observe whether these factors influence the ratio of bilateral retinoblastoma cases compared to unilateral retinoblastoma, thereby inferring an influence on the development of de novo germline pathogenic variants in RB1. SUBJECTS/METHODS: Data from 688 patients from 11 centres in 10 countries were analysed using a series of statistical methods. RESULTS: No associations were found between advanced maternal age, birth order or GDP per capita and the ratio of bilateral to unilateral retinoblastoma cases (p values = 0.534, 0.201, 0.067, respectively), indicating that these factors do not contribute to the development of a de novo pathogenic variant. CONCLUSIONS: Despite a lack of a definitive control group and genetic testing, this study demonstrates that advanced maternal age, birth order or GDP per capita do not influence the risk of developing a bilateral retinoblastoma
Global prevalence of traumatic non-fatal limb amputation
BACKGROUND: Reliable information on both global need for prosthetic services and the current prosthetist workforce is limited. Global burden of disease estimates can provide valuable insight into amputation prevalence due to traumatic causes and global prosthetists needed to treat traumatic amputations. OBJECTIVES: This study was conducted to quantify and interpret patterns in global distribution and prevalence of traumatic limb amputation by cause, region, and age within the context of prosthetic rehabilitation, prosthetist need, and prosthetist education. STUDY DESIGN: A secondary database descriptive study. METHODS: Amputation prevalence and prevalence rate per 100,000 due to trauma were estimated using the 2017 global burden of disease results. Global burden of disease estimation utilizes a Bayesian metaregression and best available data to estimate the prevalence of diseases and injuries, such as amputation. RESULTS: In 2017, 57.7 million people were living with limb amputation due to traumatic causes worldwide. Leading traumatic causes of limb amputation were falls (36.2%), road injuries (15.7%), other transportation injuries (11.2%), and mechanical forces (10.4%). The highest number of prevalent traumatic amputations was in East Asia and South Asia followed by Western Europe, North Africa, and the Middle East, high-income North America and Eastern Europe. Based on these prevalence estimates, approximately 75,850 prosthetists are needed globally to treat people with traumatic amputations. CONCLUSION: Amputation prevalence estimates and patterns can inform prosthetic service provision, education and planning
Motor Planning and Gait Coordination Assessments for Children with Developmental Coordination Disorder
Knowledge and Women's Interests: Issues of Epistemology and Methodology in Feminist Sociological Research
Virtual Sensorimotor Balance Training for Children With Fetal Alcohol Spectrum Disorders: Feasibility Study
The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study.
BACKGROUND/OBJECTIVES: Retinoblastoma is a common childhood intraocular malignancy, the bilateral form of which most commonly results from a de novo germline pathogenic variant in the RB1 gene. Both advanced maternal age and decreasing birth order are known to increase the risk of de novo germline pathogenic variants, while the influence of national wealth is understudied. This cohort study aimed to retrospectively observe whether these factors influence the ratio of bilateral retinoblastoma cases compared to unilateral retinoblastoma, thereby inferring an influence on the development of de novo germline pathogenic variants in RB1. SUBJECTS/METHODS: Data from 688 patients from 11 centres in 10 countries were analysed using a series of statistical methods. RESULTS: No associations were found between advanced maternal age, birth order or GDP per capita and the ratio of bilateral to unilateral retinoblastoma cases (p values = 0.534, 0.201, 0.067, respectively), indicating that these factors do not contribute to the development of a de novo pathogenic variant. CONCLUSIONS: Despite a lack of a definitive control group and genetic testing, this study demonstrates that advanced maternal age, birth order or GDP per capita do not influence the risk of developing a bilateral retinoblastoma