The impact of obesity on sleep, pulmonary and chest wall restriction in Osteogenesis Imperfecta: a pilot study.

Introduction: Osteogenesis Imperfecta (OI) is characterised by brittle bones, severe skeletal deformities, low sleep quality, and restricted breathing. We aimed to distinguish how disease and obesity affect these results.

Methods: According to BMI, we considered four groups of peer adults (median age: 35.

GraphLOGIC: Lethality prediction of osteogenesis imperfecta on type I collagen by a mechanics-informed graph neural network.

Collagen plays a crucial role in human bodies and has a significant presence in connective tissues. As such, the impact of collagen mutations can be devastating. Osteogenesis imperfecta (OI), a rare genetic disease affecting 1 in every 15,000 to 20,000 people, is one such example characterized by brittle bones.

A novel chemical chaperone ameliorates osteoblast homeostasis and extracellular matrix in osteogenesis imperfecta.

Aims: Osteogenesis imperfecta (OI) is a collagen I-related heritable family of skeletal diseases associated to extreme bone fragility and deformity. Its classical forms are caused by dominant mutations in COL1A1 and COL1A2, which encode for the protein α chains, and are characterized by impairment in collagen I structure, folding, and secretion. Mutant collagen I assembles in an altered extracellular matrix affecting mineralization and bone properties and partially accumulating inside the cells, leading to impaired trafficking and cellular stress.

Trabecular bone scores in children with osteogenesis imperfecta respond differently to bisphosphonate treatment depending on disease severity.

Introduction: Osteogenesis imperfecta (OI) is a congenital skeletal disorder characterized by bone fragility. Bisphosphonates (BISs) have become the mainstream treatment in children with OI. However, an optimal treatment protocol has not yet been established, while BIS treatment tends to be administered to normalize bone mineral density (BMD).

Controlled delivery of mesenchymal stem cells via biodegradable scaffolds for fracture healing.

Biodegradable controlled delivery systems for mesenchymal stem cells (MSCs) have emerged as novel advancements in the field of regenerative medicine, particularly for accelerating bone fracture healing. This detailed study emphasizes the importance of quick and adequate fracture treatment and the limitations of existing methods. New approaches employing biodegradable scaffolds can be placed within a fracture to serve as a mechanical support and allow controlled release of in situ MSCs and bioactive agents.

Craniotabes in Newborns and the Role of Maternal Vitamin D Deficiency: A Case Series.

Craniotabes is characterized by the softening of skull bones in newborns. It can be associated with conditions like rickets, congenital syphilis, and osteogenesis imperfecta. In otherwise healthy newborns, craniotabes is often linked to in utero vitamin D deficiency.

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Osteogenesis imperfecta, a common genetic connective tissue disorder affecting bone with multisystemic implications, is caused by genomic alterations at various levels that disrupt the biosynthesis stages of collagen Type I. This study evaluated the intraoral and clinical findings of 43 OI cases in relation to genetic variants, aiming to contribute new insights into the roles of collagen and non-collagen genes in the oral-dental pathology of OI. Significant associations were found between OI variants and dental anomalies such as dentinogenesis imperfecta, enamel hypoplasia, taurodontism, and hypodontia.

Impaired salivary gland function in children with osteogenesis imperfecta: a case-control study.

Objectives: The aim of the present study was to evaluate salivary gland function and oral health status in Osteogenesis imperfecta (OI) children, comparing to a control group, and to investigate the possible influence of bisphosphonate (BP) treatment.

Materials And Methods: Patients aged 8-15 years with any OI molecularly confirmed and gender-matched healthy control were consecutively recruited at the Section of Pediatric Dentistry (Dental School-University of Turin). Comprehensive dental examinations were conducted to evaluate carious lesions, plaque and gingival index, stimulated saliva flow rate, pH, and buffer capacity.

Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children.

The formation of functional bone requires a delicate interplay between osteogenesis and osteolysis. Disturbances in this subtle balance result in an increased risk for fractures. Besides its mechanical function, bone tissue represents a key player in the regulation of calcium homeostasis.

Effects of Bisphosphonates on Osteotomy Healing in Osteogenesis Imperfecta: A Case Series.

Introduction: Bisphosphonates have become the standard drugs for the medical management of patients with moderate-to-severe forms of osteogenesis imperfecta (OI). This study was undertaken to study the effect of parenteral pamidronate or oral alendronate therapy, on bone healing after osteotomies in patients with moderately severe forms (Sillence type 4) of OI.

Materials And Methodology: We retrospectively evaluated the effects of bisphosphonate therapy on the healing of seven osteotomies in five patients of OI (Sillence type 4) who underwent Sofield Millar procedure for deformity correction and non-union of long bone fractures.

Cardiovascular disease in adults with osteogenesis imperfecta: Clinical characteristics, care recommendations and research priorities identified using a modified Delphi technique.

Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI.

Management of multiple vertebral fractures during lactation in a patient with osteogenesis imperfecta type I following twin delivery.

Osteogenesis imperfecta (OI) is an uncommon bone disorder caused by mutations in type I collagen involved in bone matrix leading to increased fracture risk. There are several sub-categories within OI, with OI type I being the most common and mildest form. Women with OI considering pregnancy need to be aware of bone loss and fracture risk, particularly with lactation.

Multidisciplinary Approach to Smile Design of a Patient With Osteogenesis Imperfecta With Clear Aligners and Prosthetic Restorations.

Osteogenesis imperfecta (OI) is an autosomal dominant disease that affects the teeth and the musculoskeletal system. Orthodontic treatment in OI patients may be risky due to the fragility of dental hard tissues. Clear aligners may be considered a suitable orthodontic treatment method for these patients.

Lung function in adult patients with osteogenesis imperfecta: a cohort study.

Background: Osteogenesis imperfecta (OI) is a rare hereditary bone disease resulting from a defect in collagen synthesis or processing, leading to bone fragility, frequent fractures and skeletal deformities. OI is associated with increased respiratory morbidity and mortality, but the mechanisms of lung involvement are poorly understood, and there are no data on the natural history of lung function. We studied lung function over time in a cohort of adult OI patients at one center.

A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.

Osteogenesis imperfecta (OI) is a heterogeneous group of rare, inherited connective tissue disorders. It includes over 20 defined subtypes, each of which is associated with distinct causative genes that are listed in the Online Mendelian Inheritance in Man (OMIM) database. Type XXII OI (OI 22) is caused by a homozygous variant in the coiled-coil domain containing 134 (CCDC134) gene, which is located on chromosome 22q13.

The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.

Background: The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society. Two previous publications report research methodology, initial insights of the survey, and cost of illness of OI. Here, we present data on the impact of OI on the quality of life (QoL) of adults with OI and explore potential drivers of this impact.

A scientometric and visualization analysis of 3D printing scaffolds for vascularized bone tissue engineering over the last decade.

The introduction of three-dimensional (3D) printing scaffolds has emerged as an effective approach to achieving satisfactory revascularization for bone tissue engineering (BTE). However, there is a notable absence of analytical and descriptive investigations concerning the trajectory, essential research directions, current research scenario, pivotal investigative focuses, and forthcoming perspectives. Hence, the objective of this research is to offer a thorough overview of the advancements achieved in 3D printing structures for vascularized BTE within the last 10 years.

Effects of shear stress on mesenchymal stem cells of patients with osteogenesis imperfecta.

Introduction: Osteogenesis imperfecta (OI) is a rare genetic bone disorder, mainly caused by autosomal dominant mutations of the COL1A1 or COL1A2 genes that encode the alpha chains of type 1 collagen. In severe forms and in nonambulatory patients, for whom physical exercise is difficult, exposing the bone to mechanical stimuli by promoting movement, especially with physiotherapy and mobility aids, is an essential part of clinical practice. However, the effects of mechanical stimulation at the cellular level remain unknown for this disease.

Acromial and Scapular Fractures after Reverse Shoulder Arthroplasty: Comparison of 3,018 Reverse Total Shoulders by Inlay and Onlay Humeral Component Design.

Introduction: Periscapular fractures specifically acromial and scapular spine fractures, have been identified as one of the leading complications of RSA. However, very little is known of the etiology of these postoperative fractures, or how variations in humeral designs correlates with risk of postoperative fracture development. Therefore, the purpose of this study was to analyze the prevalence, timing, and relationship of humeral component design to acromial or scapular spine fractures.

Quality of Life in Short Stature Children With Skeletal Dysplasia: A Cross Sectional Study Using the Quality of Life in Short Stature Youth Questionnaire.

Patients with skeletal dysplasia, including achondroplasia (ACH) and osteogenesis imperfecta (OI), exhibit a variety of short stature, which affect various aspects of their quality of life (QoL). The QoL of adult patients with skeletal dysplasia have been reported; however, research on QoL in children remains limited. The QoL in Short Stature Youth (QoLISSY) is a QoL survey tool developed specifically for short stature children and adolescent.

A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta.

Osteogenesis imperfecta (OI) constitutes a family of bone fragility disorders characterized by both genetic and clinical heterogeneity. Several different mouse models reproduce the classic features of OI, and the most-commonly studied carry either a spontaneous or genetically induced pathogenic variant in the Col1a1 or Col1a2 gene. When OI is caused by primary alterations of type I collagen, it represents a systemic connective tissue disease that, in addition to the skeleton, also affects several extra-skeletal tissues and organs such as skin, teeth, lung, heart, and others, where the altered type I collagen is also expressed.