Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL

Background: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil. Methods: In this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQLTM) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated. Results: The sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains. Conclusions: Overall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening

SUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal hypoglycemia, and development of embryonic tumors. BWS occurs due to genetic/epigenetic changes involving growth-regulating genes, located on region 11p15, with an important genotype-phenotype correlation. Congenital adrenal hyperplasia (CAH) comprises a spectrum of autosomal recessive diseases presenting a variety of clinical manifestations due to a deficiency in one of the enzymes involved in cortisol secretion. Early diagnosis based on newborn screening prevents the adrenal crisis and early infant death. However, high 17-hydroxyprogesterone (17-OHP) levels can occur in newborns or premature infants without CAH, in situations of stress due to maternal or neonatal factors. Here, we report new cases of false-positive diagnosis of 21-hydroxylase deficiency during newborn screening – two girls and one boy with BWS. Methylation-specific multiplex ligation-dependent probe amplification revealed a gain of methylation in the H19 differentially methylated region. Notably, all three cases showed a complete normalization of biochemical changes, highlighting the transient nature of these hormonal findings that imitate the classical form of CAH. This report sheds light on a new cause of false-positive 21-hydroxylase deficiency diagnosis during newborn screening: Beckwith-Wiedemann syndrome

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

TRY plant trait database – enhanced coverage and open access

Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Osteogênese imperfeita em crianças e adolescentes e seus cuidadores : abordando a qualidade de vida

Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Ciências Médicas, Florianópolis, 2017Introdução:A osteogênese imperfeita (OI) é uma condição que causa, muitas vezes, importante limitação física. Há poucos estudos sobre qualidade de vida (QV) em crianças com OI e de seus cuidadores.Métodos: Este é um estudo descritivo transversal. Os dados foram obtidos de uma coorte longitudinal de crianças e adolescentes com OI em tratamento com Pamidronato entre 2 e 16 anos e seus cuidadores no Hospital Infantil Joana e Gusmão em Florianópolis, centro de referência para tratamento da OI em Santa Catarina. Na avaliação da QV, utilizamos os instrumentos PedsQLTM 4.0 para os pacientes e WHOQOL-BREF para seus cuidadores.Resultados:Responderam aos questionários 24 pacientes e seus respectivos cuidadores. A idade dos pacientes foi de 2 a 16 anos, com média de 9 anos e 6 meses, com discreta maioria sendo do sexo masculino (58%). Pela classificação de Sillence, a maioria dos pacientes tinha OI tipo III (13 casos), seguida do tipo I (8 casos) e IV (3 casos). Os pacientes apresentaram menores escores de QV em relação aos encontrados na literatura para crianças saudáveis, principalmente no domínio físico. Os escores de QV correlacionaram-se negativamente com o tempo de tratamento, número total de fraturas e intensidade da dor. Os cuidadores foram as mães em 23 casos, apenas um deles era o pai. Os cuidadores apresentaram pontuação muito semelhante à população geral.Conclusão: A doença afeta negativamente a QV de seus portadores, principalmente no domínio físico. No entanto, a QV dos cuidadores foi semelhante à população geral. Não sabemos até que ponto há viés nas informações fornecidas pelos cuidadores, emocionalmente envolvidos. Isso acrescenta responsabilidades ao profissional de saúde, como agente fundamental na busca de mudanças efetivas para promover a melhora da QV dessas crianças.Abstract: Background:Osteogenesisimperfecta (OI) is a condition that often causes significant physical limitation. There are few studies on the quality of life (QoL) of children with OI and their caregivers.Methods:Descriptive cross-sectional study. Data were taken from a longitudinal cohort of children and adolescents with OI on Pamidronate treatment from 2 to 16 years old and their caregivers at Hospital Infantil Joana de Gusmão in Florianópolis, reference center for OI in Santa Catarina. In the evaluation of QoL we used PedsQLTM 4.0 for patients and WHOQOL-BREF for their caregivers.Results:Twenty-four patients and their respective caregivers answered the questionnaires. The patients were from 2 to 16 years old, mean of 9 years and 6 months, with a slight majority being male (58%). By Sillence's classification, most had OI type III (13 cases), followed by type I (8 cases) and IV (3 cases). Patients presented lower QoL scores than those found in the literature for healthy children, mainly in the physical domain. QoL scores were negatively correlated with duration of treatment, total number of fractures and pain intensity. The caregivers were the mothers in 23 cases, only 1 of them was the father. Caregivers presented scores very similar to the general population.Conclusion:The disease negatively affects the QoL of its patients, mainly in the physical domain. However, caregivers' QoL was similar to the general population. We do not know to what extent there is bias in the information provided by caregivers, emotionally involved. This adds responsibilities to the health professional, as a fundamental agent in the search for effective changes to promote improvement of the QoL of these children

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™

Abstract Background Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil. Methods In this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQLTM) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated. Results The sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains. Conclusions Overall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL

Background: Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy, as well as specific daily care practices. In addition, they have an increased incidence of fractures, which require immobilization and cause severe discomfort and short-term disability. This study evaluated the health-related quality of life of children and adolescents with OI in two reference centers for OI treatment in southern Brazil. Methods: In this prospective cross-sectional study, the Pediatric Quality of Life Inventory (PedsQLTM) was applied in two university-affiliated reference centers for OI treatment in southern Brazil. Children and adolescents aged ≥ 5 years with clinical diagnoses of OI were included. Clinical data and socioeconomic status was evaluated. Results: The sample consisted of 52 children and adolescents with OI (aged 5-17 years); 26 (50%) participants with type I OI, 13 (25%) type IV, 12 (23.1 %) type III, and 1 (1.9%) type V OI. Physical and social functioning domains differed significantly according to clinical presentation of OI with lowest scores in the severe type (OI type III). Pain seems to be the variable that is most associated with impact on the PedsQL domains. Conclusions: Overall, this study revealed differences in physical functioning and social functioning in relation to OI clinical presentation. These results reinforcing the importance of the clinical management of these patients with the aim of functional improvement and importance of pain control

TRY plant trait database - enhanced coverage and open access

10.1111/gcb.14904GLOBAL CHANGE BIOLOGY261119-18