Osteogénesis imperfecta: estudio de la calidad de vida en los niños

Fano, Virginia; Pino, Mariana del; Celin, Mercedes Rodríguez; Buceta, Susana; Obregón, María Gabriela

doi:10.5546/aap.2013.328

Cited by 16 publications

(11 citation statements)

References 12 publications

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“…[ 36 ] As for mental health and the social, academic and emotional areas, scores were similar to those of the general population, [ 33 ] although this observation is not corroborated in all explorations. [ 35 , 37 ] In studies targeting adult populations, likewise, mental health indices are analogous to those described for the general population, whereas physical health is reduced. [ 33 , 38 ] Complications deriving from this pathology such as pain, cramps, scoliosis, short stature or bone fragility hinder everyday tasks, contributing to a dimmer perception of physical health, especially in the most severe cases.…”

Section: Introductionmentioning

confidence: 99%

Chronic pain in adults with osteogenesis imperfecta and its relationship to appraisal, coping, and quality of life: A cross-sectional study

2022

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Chronic pain is a common experience in osteogenesis imperfecta (OI). However, there are few studies on this topic, and none of them emerge from psychology as a discipline. The purpose of this work is to describe the frequency of chronic pain and its characteristics in a large sample of adults with OI, as well as its relationship with clinical, sociodemographic, psychological, and quality of life variables. A cross-sectional study was carried out in a sample of 418 adults with OI who answered a battery of online questionnaires. Sociodemographic and clinical variables, pain parameters, participants’ appraisal of pain, coping strategies, interference in daily activities, and health-related quality of life were evaluated. A descriptive and correlational analysis was performed. Up to 83% of the sample reported experiencing pain frequently. Both the frequency and intensity of pain were related to the accumulation of fractures over the years (P < .05), but were independent of other variables like the severity of the pathology or the use of bisphosphonates. Higher threat appraisal of pain was associated with an increase in perceived pain intensity and its interference with daily activities, as well as a decrease in physical and mental health (P < .001). Chronic pain frequent condition in adults with OI, regardless of the severity of the pathology. It interferes with their usual activities and has an impact on their quality of life. The way in which participants appraise their pain also have an influence on its intensity and its consequences. Interventions aimed at training strategies for managing appraisals about pain could potentially improve adaptation to chronic pain.

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Section: Introductionmentioning

confidence: 99%

Chronic pain in adults with osteogenesis imperfecta and its relationship to appraisal, coping, and quality of life: A cross-sectional study

2022

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“…To best of our knowledge, there is only one study that reported compliance to treatment in OI with PD. An Argentinian study in children with OI showed better quality of life scores with increasing treatment compliance (Fano et al , 2013). In children with OI-3 and OI-4, there was a decrease in the quality of life in the physical domain, both in the perception of parents and children.…”

Section: Discussionmentioning

confidence: 99%

Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center

et al. 2019

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Treatment of moderate and severe forms of osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI Treatment in Southern Brazil was studied. A retrospective cohort study was conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) and outpatient care. Clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, history and site of the fractures, biochemical data, including calcium, phosphorus, and alkaline phosphatase levels, were systematically collected. Bone mineral density (BMD) was measured using dual energy X-ray absorptiometry (DXA). Forty-five patients (26 females) were included in the study, and the age of the patients at the time of diagnosis ranged from 1 to 144 months, with a median age (p25-p75) of 38 (5-96) months. Most cases presented OI-4 (51.1%), and the median age of the patients at the start of treatment was 3.3 years (25-75 percentiles: 0.5 - 8.7 years). Twenty-four patients (54.5%) had some adverse events or intercurrences during treatment, and the treatment compliance mean was 92.3% (± 10.7). The treatment with intravenous pamidronate has shown to be safe, well-tolerated, and effective in regard to the improvement of BMD and the reduction of the number of fractures in children and adolescents with OI.

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“…11,12 An experimental study on mice with deficient TLR4 signaling showed that LPS-induced intestinal apoptosis was prevented and the incidence of NEC development reduced. 11 Furthermore, glutamine has been shown to downregulate Tolllike receptor 2 (TLR-2) and TLR-4 expression and to protect intestine in premature neonatal rats with NEC. 12 These studies provide a rationale for studying how the regulation of enterocyte apoptosis occurs within the human newborn intestine during development of NEC.…”

Section: Discussionmentioning

confidence: 99%

Increase in pro-apoptotic Bax expression and decrease in anti-apoptotic Bcl-2 expression in newborns with necrotizing enterocolitis

et al. 2016

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Background/Aim. The aim of the present study was to find out if there is an increase in the expression of pro-apoptotic Bax and reduction in expression of anti-apoptotic Blc-2A1 in newborn intestines with necrotizing enterocolitis (NEC). Material and Methods. We compared 8 consecutive newborn patients undergoing bowel resection for NEC with 8 neonates undergoing intestinal resection for ileal atresia. Histopathological evaluation of tissue injury and apoptosis was performed by using light microscopic examination and TUNEL method. The mRNA level of apoptotic (CASP3, CASP6, CASP7, Bax, BIRC2) and anti-apoptotic genes were evaluated by PCR array method. Protein expression was assessed by immunohistochemistry. Results. Tissue injury scores and mean apoptosis scores were significantly higher in NEC group when compared with control group (p <0.01). Expression of pro-apoptotic genes were significantly increased in NEC group when compared with control group (p <0.01). Expression of anti-apoptotic Bcl-2A1 gene was significantly decreased in NEC group, (p <0.01). Protein expression of Bax and CASP3 was significantly increased in NEC group, (p <0.01). Conclusion. Our data in human newborns suggest that alteration of the balance between pro-apoptotic Bax expression and antiapoptotic Bcl-2A1 expression in the site of injury is a possible mechanism in the pathogenesis of NEC. Keywords: apoptosis, gene expression, necrotizing enterocolitis, newborn.http://dx.doi.org/10. 5546/aap.2016.eng.243 INTRODUCTION N e c r o t i z i n g e n t e r o c o l i t i s ( N E C ) i s a complicated, multi-factorial condition of newborns and premature infants which causes significant mortality and morbidity in this population. NEC is characterized by intestinal epithelial cell apoptosis, necrosis, haemorrhage, i n c o m p l e t e e n t e r o c y t e m i g r a t i o n , a n d proliferation that results in persistent gut barrier failure which leads to loss of epithelial integrity, invasion of the intestine by bacteria followed by an acute, hyper-reactive inflammatory reaction and consecutive bowel necrosis. 1,2The balance between cell proliferation and cell loss is necessary for the maintenance of intestinal epithelial homeostasis.3,4 The majority of cell loss in the normal intestine occurs by apoptosis.3 The balance of pro-apoptotic and anti-apoptotic proteins is crucial for cell survival.3 Bcl-2 family is a significant class of molecules that control enterocyte apoptosis.3 Bcl-2A1 is an antiapoptotic protein which inhibits the cytochrome c release from the mitochondria and reverses the effects of the pro-apoptotic protein Bax.3 It has been showed that an exaggerated epithelial apoptosis in gut leads to severe NEC injury. 2,3,5 In a rat model of NEC, it has been shown that expression of apoptotic genes increased whereas expression of anti-apoptotic genes decreased. Furthermore, prevention and reducing apoptosis in experimental settings have been suggested to reduce NEC incidence.5-7 Therefore, we aimed to find out if there is an increas...

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Osteogénesis imperfecta: estudio de la calidad de vida en los niños

Cited by 16 publications

References 12 publications

Chronic pain in adults with osteogenesis imperfecta and its relationship to appraisal, coping, and quality of life: A cross-sectional study

Chronic pain in adults with osteogenesis imperfecta and its relationship to appraisal, coping, and quality of life: A cross-sectional study

Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center

Increase in pro-apoptotic Bax expression and decrease in anti-apoptotic Bcl-2 expression in newborns with necrotizing enterocolitis

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