Imperfect Osteogenesis

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased bone fragility and susceptibility for fractures. Only few studies have compared the management for femoral fractures in children with OI. Nevertheless, no cohort studies have described the treatment for femoral fractures in adults with OI in Taiwan. This study aimed to investigate and compare the incidence of union and non-union femoral fractures and the best treatment options to avoid non-union fractures. Methods: We enrolled 72 patients with OI who were older than 18 years at MacKay Memorial Hospital between January 2010 and December 2018...

(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...

Aim and objective: The aim and objective of this report is to describe the dental management of 11-year-old patient with type III osteogenesis imperfecta (OI). Background: Osteogenesis imperfecta or brittle bone disease is caused by mutations in the collegen type I gene which is a heterogeneous rare connective tissue disorder. Dentinogenesis imperfecta, hearing impairment, scoliosis, sclera is blue, hyperlaxity of ligaments, and fragile skin are other common features...

BACKGROUND: Wnt signaling pathway plays an important role in promoting ostergenesis. WNT1 mutations have been considered as a major cause of ostergenesis imperfect (OI). We identified an OI patient with pathogenic consanguineous-derived homozygous WNT1 missense mutation. METHODS: We designed and applied a panel of known 261 genes associated with hereditary bone diseases for targeted next-generation sequencing to examine clinically diagnosed OI patients. Detected mutations were confirmed by Sanger sequencing...

Leucine proline-enriched proteoglycan 1 has been extensively explored because of its protective function in cell homeostasis and correlation with osteogenesis imperfect. Human osteosarcoma is the most common primary malignant tumor of bone with multiple and complex genomic aberrations. However, the functional role of leucine proline-enriched proteoglycan 1 is still unknown in osteosarcoma. Thus we performed this study to explain the leucine proline-enriched proteoglycan 1 effect in osteosarcoma. Gene arrays of human osteosarcoma were downloaded from the Gene Expression Omnibus database...

BACKGROUND: Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. OI is characterized by an increase in bone fragility that leads to frequent fractures, which cause pain, deformity and disability associated with other alterations. The objective of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with OI evaluated at the University of Los Andes...

Objective: The authors aim to provide genetic counselling and prenatal gene diagnosis to the families with osteogenesis imperfecta(OI), based on the identification of pathogenetic mutations in large cohort genetic testing. Methods: DNA was extracted from the peripheral blood of parents of the fetuses, and from the villi tissue, amniotic fluid or cord blood of the fetuses using a standard sodium dodecyl sulfate-proteinase K-phenol/chloroform extraction method. PCR combined with Sanger DNA sequencing was performed to validate the pathogenic mutations of 200 fetuses at risk of OI and their parents from 158 families...

Type I collagen is an important structural protein of bone, skin, tendon, ligament and other connective tissues. It is initially synthesized as a precursor form, procollagen, consisting of two identical pro-α1(I) and one proα2(I) chains, encoded by COL1A1 and COL1A2 , respectively. The N- and C- terminal propeptides of procollagen are cleavage by N-proteinase and C-proteinase correspondingly, to form the central triple helix structure with Gly-X-Y repeat units. Mutations of COL1A1 and COL1A2 genes are associated with osteogenesis imperfecta, some types of Ehlers-Danlos syndrome, Caffey diseases, and osteogenesis imperfect/Ehlers- Danlos syndrome overlapping diseases...

BACKGROUND: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision-making between clinicians and patients, assessing patient responses to therapeutic interventions, and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System® (PROMIS®) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status...

INTRODUCTION: Multiple bone fractures in a newborn can be associated with osteogenesis imperfect (OI). OI is a rare genetic disorder that causes Type I collagen synthesis disturbance results in bone fragility. CASE REPORT: We present a female newborn which had numerous fractures of the humerus, bilateral clavicle, and bilateral femur. Her delivery was at 36 weeks gestation by spontaneous vaginal delivery. She had has not any pathological symptom at 2 weeks after birth, the patient had a fracture of the humerus, bilateral clavicle, and femur without any trauma...

Osteogenesis imperfecta (OI) is a syndrome that is often associated with dysfunction of the aortic valve. Because of the resultant fragile vessels and impaired hemostasis, surgical therapy to treat OI is challenging. Previous reports have suggested that transcatheter aortic valve implantation (TAVI) might be a suitable treatment for this condition. To the best of the authors' knowledge, the present case is the first to describe a young patient who underwent successful TAVI to treat osteogenesis imperfecta. The proposal of transfemoral TAVI serving as first-line therapy for aortic valve stenosis in patients suffering from osteogenesis imperfect was confirmed...

The concept of minimodeling is defined as a kind of focal bone formation that features the absence of preceding bone absorption by osteoclasts. In the process of minimodeling, osteogenetic and osteoclastic activities are decoupled. Linear boundary between old bone and new bone can be discovered. Frost et al. presumed that minimodeling in trabeculae can continue throughout life. The concept of minimodeling is not new, however its function and nature are still imperfectly understood. Our review will focus on minimodeling-based formation in 5 aspects below: 1...

While mammals cannot regenerate amputated limbs, mice and humans have regenerative ability restricted to amputations transecting the digit tip, including the terminal phalanx (P3). In mice, the regeneration process is epimorphic and mediated by the formation of a blastema comprised of undifferentiated proliferating cells that differentiate to regenerate the amputated structures. Blastema formation distinguishes the regenerative response from a scar-forming healing response. The mouse digit tip serves as a preclinical model to investigate mammalian blastema formation and endogenous regenerative capabilities...

To analyze prenatal ultrasound data for fetal limb deformities in high-risk pregnant women and the risk factors for prenatal limb defects in high-risk pregnant women.This was a retrospective study of high-risk pregnant women at the multidisciplinary consultation center from January 2006 to December 2015. When deformities were definitively diagnosed in the first trimester by ultrasound, patients were recommended to undergo an abortion, and fetal abnormalities were confirmed by pathological examination (both gross anatomic examinations and fetal chromosome and genetic tests)...

INTRODUCTION: Neck of femur fracture in osteogenesis imperfecta is rarely reported. The management is uncertain and always reported as difficult. Clinical outcomes are not well described. CASE PRESENTATION: A teenage girl, who is known to have osteogenesis imperfecta, sustained neck of femur fracture in the presence of a previously inserted implant. She was treated by percutaneous screw fixation. In both immediate and long term follow up, our patient had satisfactory outcome and return to pre-fracture functional status...

Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...

BackgroundOsteogenesis imperfecta (OI) is most often caused by mutations in type I collagen genes. Respiratory complications have been largely attributed to spine and ribcage deformities. We hypothesized that direct involvement of the pulmonary parenchyma and/or diaphragm by the disease may occur.MethodsIn Col1a1Jrt/+ mice, a model of severe dominant OI, mean linear intercept length (Lm) was used to assess the distal airspace size. Cross-sectional area (CSA) and myosin heavy chain (MyHC) phenotype of the diaphragm muscle fibers, as well as contractile properties, were determined...

RATIONALE: Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Only 2 types of mutation sites in the P4HB and CRTAP genes have been reported. PATIENT CONCERNS: A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 cases...

Degradation limits the application of magnesium alloys, and evaluation methods for non-traumatic in vivo quantification of implant degradation and bone formation are imperfect. In the present study, a micro-arc-oxidized AZ31 magnesium alloy was used to evaluate the degradation of implants and new bone formation in 60 male New Zealand white rabbits. Degradation was monitored by weighing the implants prior to and following implantation, and by performing micro-computed tomography (CT) scans and histological analysis after 1, 4, 12, 24, 36, and 48 weeks of implantation...

OBJECTIVE: Osteogenesis imperfecta (OI) is a rare connective tissue and bone disease that results in a bone fragility of varying severity. The objective was to determine and describe the OI in the Valencia Region (VR) during the period 2004 to 2014. METHODS: From the Rare Diseases Information System of the VR (SIER-CV) patients from 2004 to 2014 with the codes of the International Classification of Diseases for the OI were identified: 756.51 from the 9th Revision-Clinical Modification and Q78...