Search

Osteogenesis Imperfecta (OI), known as "brittle bone disease," presents a rare genetic disorder characterized by bone fragility, often accompanied by skeletal deformities and extraskeletal complications. OI is primarily associated with collagen type I defects, responsible for the syndromic nature of the disease affecting a broad range of tissues. As such, its multisystemic complexity necessitates multidisciplinary care approaches in all patient life stages. OI treatment remains largely supportive, commonly including bisphosphonates and orthopedic surgeries, which show promise in children. Although rehabilitation programs for children exist, guidelines for adult care and especially the transition from pediatric to adult care, are lagging behind in OI care and research. The current systematic review summarizes the literature on OI patient pediatric to adult care transition experiences and compares OI transition approaches to other chronic diseases. The review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Systematic searches were conducted across multiple databases. Search terms encompassed synonyms and closely related phrases relevant to "OI" and "Transition to adult care". The initial screening involved the evaluation of article titles, followed by a thorough review of abstracts to assess relevance for the purpose of the current review. Programs aimed at easing the transition from pediatric to adult OI care necessitate a multifaceted approach. Collaborative efforts between different medical disciplines including pediatricians, endocrinologists, orthopedics, cardiology, pulmonology, ophthalmology, otolaryngologists, maxillofacial specialists, psychologists and medical genetics, are crucial for addressing the diverse needs of OI patients during this critical life phase. Comprehensive education, readiness assessments, personalized transition plans, and further follow-up are essential components of a structured transition framework. Further research is warranted to evaluate the feasibility and efficacy of sequential stepwise transition systems tailored to individuals with OI. [ABSTRACT FROM AUTHOR]

Purpose: Osteogenesis imperfecta (OI) is a rare hereditary disorder of the connective tissue. Despite recent attention to corneal abnormalities in OI, understanding remains limited. This study aimed to comprehensively evaluate corneal changes in a large sample of OI patients compared to controls using in vivo confocal microscopy (IVCM). Patients and Methods: Nineteen OI patients (mean age: 34.0 ± 16.00 years; 9 females, 10 males) and 20 healthy controls (mean age: 35.5 ± 12.00; 12 females, 8 males) were included, matched for age and gender. The integrity of corneal cell layers, with a focus on Bowman's layer and sub-epithelial stroma, was evaluated. Additionally, we conducted a quantitative analysis of the corneal sub-basal nerve plexus (CSNP), measuring nerve fiber density (NFD), nerve branch density (NBD), nerve fiber length (NFL), and dendritic cells (DCs) density. Clinical parameters including blue discoloration of the sclera, corneal thickness and sensitivity were also evaluated. Results: Bowman's layer alterations were observed in 42.11% of OI patients. NFD was significantly reduced in OI patients (27,3± 6.98 vs controls 37.85± 13,74 fiber/mm2; p-value=0.005). NBD and NFL were lower in OI patients but did not reach statistical significance (p=0.650 and p=0.120, respectively). DCs density was higher in OI patients than controls (11,37 ± 12.79 vs 2.09± 2,91 cells/mm2; p-value < 0.001). Corneal thickness and sensitivity were significantly reduced in OI patients compared to controls (p< 0.001, p=0.001, respectively). OI patients with blue sclera or abnormal Bowman's layer exhibited even lower central corneal thickness (CCT) (p=0.010, p=0.005, respectively). Conclusion: OI patients demonstrated Bowman's layer abnormalities, neuropathic changes and higher inflammatory cell count. These results suggest potential corneal complications, and hold promise for diagnostic applications and intervention strategies in OI. [ABSTRACT FROM AUTHOR]

Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted that included articles from the inception of these databases to April 2023. Valvular disease, heart failure, atrial fibrillation, and hypertension appear to be more prevalent in OI than in control individuals. Moreover, a larger aortic root was observed in OI compared to controls. Various cardiovascular diseases appear to be more prevalent in OI than in controls. These cardiovascular abnormalities are observed in all types of OI and at all ages, including young children. As there are insufficient longitudinal studies, it is unknown whether these abnormalities are progressive in nature in OI patients. Based on these findings, we would recommend referring individuals with OI to a cardiologist with a low-threshold. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate ocular motility (OM) abnormalities associated with Ehlers-Danlos Syndrome (EDS). Materials and methods: In this cross-sectional observational study, patients with EDS underwent a complete orthoptic examination. The following orthoptic tests were performed: corneal light reflex test, stereoscopic test, cover test, OM assessment, evaluation of eye pain in different gaze positions and red filter test for diplopia. Results: The corneal light reflex test at 33 cm showed an intermittent divergent deviation in 31.7% of patients and an intermittent horizontal deviation associated with a vertical deviation in 4.9% of patients. A manifest strabismus was observed in 2.4% of patients, whereas 2.4% of patients showed a microstrabismus. The corneal light reflex test at 5 m revealed microstrabismus in 9.8% and manifest strabismus in 2.4% of our patients. Moreover, intermittent exotropia was observed in 2.4% of cases. No significant alterations involving the inferior rectus and the superior oblique muscles were observed. Significant associations were observed between medial rectus muscle deficit of both eyes with pain (p = 0.020) and diplopia (p = 0.014). Furthermore, a significant association between lateral rectus muscle alteration of both eyes and pain was observed (p = 0.004). Conclusions: Our results show various OM alterations in patients with EDS, specifically superior and medial rectus muscle hypofunction. A full orthoptic evaluation in these patients is recommendable to detect OM involvement and possible ligamentous laxity changes over time through an accurate OM assessment. [ABSTRACT FROM AUTHOR]

Bone involvement in Hodgkin lymphoma (HL) is rare. The differential diagnosis between HL bone localization and other malignant or benign skeletal diseases is challenging. We report the case of a girl affected by classic HL, initially staged IVA because of supradiaphragmatic lymph nodes and skeletal involvement. After 6 ABVD (adriamycin, bleomycin, vinblastine, dacarbazine) cycles, positron emission tomography (PET) showed a complete metabolic response of the nodal localizations and a persistent, high metabolic activity of bone lesions. Salvage treatment followed by autologous stem cell transplant was carried out. After the transplant, the bone lesions maintained a high metabolic activity at PET. A targeted bone biopsy led to the diagnosis of a fibrous dysplasia excluding the presence of HL. To our knowledge, the concomitant presence of HL and fibrous dysplasia has not been previously reported. An in-depth evaluation of disease response to frontline treatment with a biopsy of the PET-hypercaptant bone lesions could have avoided overtreatment in this patient. [ABSTRACT FROM AUTHOR]

(1) Background: The aim of the work is to identify some imaging parameters in osteogenesis imperfecta to assist the dentist in the diagnosis, planning, and orthodontic treatment of Osteogenesis Imperfecta (OI) using 3D cone beam Computed Tomography (CBCT) and the Double Energy X-ray Absorptiometry (DEXA) technique. (2) Methods: 14 patients (9 males and 5 females; aged mean ± SD 15 ± 1.5) with a clinical-radiological diagnosis of OI were analyzed and divided into mild and moderate to severe forms. The patients' samples were compared with a control group of 14 patients (8 males and 6 females; aged mean ± SD 15 ± 1.7), free from osteoporotic pathologies. (3) Results: The statistical analysis allowed us to collect four datasets: in the first dataset (C1 sick population vs. C1 healthy population), the t-test showed a p-value < 0.0001; in the second dataset (C2 sick population vs. C2 healthy population), the t-test showed a p-value < 0.0001; in the third dataset (parameter X of the sick population vs. parameter X of the healthy population), the t-test showed a p-value < 0.0001; in the fourth dataset the bone mineralometry (BMD) value detected by the DEXA technique compared to the C2 value of the OI affected population only) the Welch–Satterthwaite test showed a p-value < 0.0001. (4) Conclusions: The research has produced specific imaging parameters that assist the dentist in making diagnostic decisions in OI patients. This study shows that patients with OI have a characteristic chin-bearing symphysis, thinned, and narrowed towards the center, configuring it with a constant "hourglass" appearance, not reported so far in the literature by any author. [ABSTRACT FROM AUTHOR]

A 12-year-old male patient with OI type I underwent percutaneous osteotomies with the FD telescopic nail (diameter 5.6). The clinical and radiological follow-ups of the implant were satisfactory, with good bone callus formation and correct positioning of the nail. The patient was permitted to resume swimming from the 9th post-operative month, though, unbeknownst to his caregivers, he began a semiprofessional freestyle swimming training load. As a result, the patient experienced acute thigh pain with immediate functional impotence 18 months after surgery. The X-rays showed an incomplete transverse fracture in the upper middle third of the femur. The patient was subsequently placed in a long leg cast, with no weight bearing for 3 weeks, and prescribed magnetotherapy until clinical and radiological healing was reached, 2 months later. We believe this case should give pause for thought as to which indications to give these patients with regard to sports activities, and the need to increase awareness in OI patients and their families. We also believe it is best to discourage, in these particular patients, any form of semi-professional competitive activity, including competitive swimming. [ABSTRACT FROM AUTHOR]