This study aimed to examine the health-related quality of life (HrQoL), coping, height-related beliefs, and social support of children/adolescents with short stature, the sociodemographic, clinical, and psychosocial variables associated with HrQoL, and the moderating role of sociodemographic and clinical variables on the associations between psychosocial variables and HrQoL. 114 Portuguese children/adolescents with short stature, aged 8-18 years old, completed the Quality of Life in Short Stature Youth questionnaire and the Satisfaction with Social Support Scale. Regression analyses explained 54% of the variance of HrQoL, with significant main effects of current height deviation and height-related beliefs, and a significant interaction effect between beliefs and diagnosis. Results suggest that a multidisciplinary therapeutic approach, not only focused on hormone treatment to boost physical growth, but also including psychosocial interventions focused on the modification of height-related beliefs, may contribute to improve the HrQoL of pediatric patients with short stature.
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http://dx.doi.org/10.1007/s10880-022-09871-y | DOI Listing |
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFCurr Issues Mol Biol
January 2025
Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University "Gabriele d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.
Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD, United States.
Recombinant human IGF-1 is used to treat severe primary IGF-1 deficiency, but this treatment requires twice-daily injection, often does not fully correct the growth deficit, and has important off-target effects. We therefore sought to target IGF-1 to growth plate cartilage by generating fusion proteins combining IGF-1 with single-chain human antibody fragments that target matrilin-3, a cartilage matrix protein. We previously showed that this cartilage-targeting IGF-1 fusion protein (CV1574-1) promoted growth plate function in a GH-deficient (lit) mouse model.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
January 2025
Department of Pediatric Endocrinology, Umraniye Training and Research Hospital, Istanbul, Türkiye.
Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.
View Article and Find Full Text PDFZhongguo Xiu Fu Chong Jian Wai Ke Za Zhi
January 2025
Department of Orthopedics, Rehabilitation Hospital of the National Research Center for Rehabilitation Technical Aids, Beijing, 100176, P. R. China.
Objective: To describe the characteristics of short arm deformity in patients with achondroplasia, and summarize the progress of its lenthening and reconstruction, so as to provide reference for clinical diagnosis and treatment.
Methods: The literature on the lenthening of upper limb with achondroplastic short arm deformity at home and abroad in recent years was reviewed, and the characteristics, extension methods, postoperative management, effectiveness evaluation, and related complications of short arm deformity were summarized.
Results: Achondroplastic short arm deformity affect the patient's daily perineal hygiene activities.
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