A5021150173- Connective tissue disorders research
- Bone fractures and treatments
- Bone and Dental Protein Studies
- Bone health and treatments
- Hip disorders and treatments
- Bone Tumor Diagnosis and Treatments
- Medical and Biological Sciences
- Children's Physical and Motor Development
- Vitamin K Research Studies
- Nutrition and Health in Aging
- Dermatological and Skeletal Disorders
- Musculoskeletal synovial abnormalities and treatments
- Folate and B Vitamins Research
- Osteomyelitis and Bone Disorders Research
- Sarcoma Diagnosis and Treatment
- Hypertrophic osteoarthropathy and related conditions
- Cerebral Palsy and Movement Disorders
- Maternal and Neonatal Healthcare
- Vitamin D Research Studies
- Therapeutic Uses of Natural Elements
- Infant Development and Preterm Care
- Cardiovascular Issues in Pregnancy
- Bone Metabolism and Diseases
- Neurogenetic and Muscular Disorders Research
- Physical Education and Gymnastics
Istituto Ortopedico Rizzoli
2019-2024
Universidade Federal do Rio Grande do Sul
2014-2019
Hospital de Clínicas de Porto Alegre
2018
Johns Hopkins University
2015-2016
Kennedy Krieger Institute
2015-2016
Universidade Federal do Rio Grande
2016
University of Rio Grande and Rio Grande Community College
2015
Johns Hopkins Medicine
2015
Office of Adolescent Health
2015
Felix Scholarship
2014
On the occasion of 13th International Conference on Osteogenesis imperfecta in August 2017 an expert panel was convened to develop international consensus paper regarding physical rehabilitation children and adolescents with imperfecta. The experts were chosen based their clinical experience osteogenesis identified by sending out questionnaires specialized centers patient organizations 26 different countries. final expert-group included 16 representatives (12 physiotherapists, two...
Abstract Background Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that arises from chondroid cap pre-existent osteochondromas. We conducted retrospective cohort study on patients diagnosed and followed up 1960 to 2019 describe clinical pathological features...
In Brief Purpose: To analyze clinical and functional features of children adolescents with osteogenesis imperfecta (OI). Methods: A cross-sectional study 62 participants examined clinical, body structure function activity features. Results: total 31 had OI type I, 9 III, 22 IV. Mild (type I) moderate/severe (types III IV) differed significantly in occurrence fractures, presence bone deformities, the use intramedullary rods, mineral density, bisphosphonate therapy. Age gait acquisition showed...
Osteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features OI include bone fragility susceptibility to fractures, deformity, diminished growth, along with plethora associated secondary (both extraskeletal). diagnosis currently made on clinical grounds may be confirmed by genetic testing. However, imaging remains pivotal in the evaluation this disease. aim article review current role played various...
Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children adolescents with OI require periodic medical follow up, corrective surgery, drug therapy physical therapy, as well specific daily care practices. In addition, they have an increased incidence fractures, which immobilization cause severe discomfort short-term disability. This study evaluated the health-related quality life children in two reference centers for treatment southern...
Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported small series. In this study, we aimed to present our experience with rare variant of chondrosarcoma and compare results already published data order determine prognostic factors for overall disease-free survival.The case study includes retrospective from patients diagnosed at a single institution 1943 2019. Clinical were collected reviewing all available medical records first last...
Abstract: Osteogenesis imperfecta (OI) is a rare, heritable systemic disorder of bone and connective tissue, which in almost 90% cases due to mutations affecting the normal synthesis type I collagen. In 1979, four OI phenotypes were categorized inherited as autosomal dominant characteristics. Individuals with present both genetic phenotypic variabilities. Major characteristics are fragility, blue sclerae, dentinogenesis imperfecta, short stature, scoliosis, joint hyperextensibility. Both...
During the COVID-19 outbreak, European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created "COVID-19 Helpline for Diseases" in an attempt to provide high-quality information expertise remotely patients professionals. The present position statement describes key characteristics of initiative, along with main aspects topics that recurrently emerged as central highlighted are general recommendations, pulmonary...
Objective: The aim of the present study was to assess anthropometric measurements, nutritional status, dietary intake, and body fat percentage pediatric patients with osteogenesis imperfecta (OI). Method: A cross-sectional evaluated 63 OI from 0 19 years age. We analyzed mobility, bisphosphonate treatment, (by dual-energy x-ray absorptiometry [DEXA] sum skinfold thickness), intake (using World Health Organization [WHO] reference recommendations for macronutrients calcium respectively)....
Osteogenesis imperfecta type V (OI-V) has a wide clinical variability, with distinct clinical/radiological features, such as calcification of the interosseous membrane (CIM) between radius-ulna and/or tibia-fibula, hyperplastic callus (HPC) formation, dislocation radial head (DRH), and absence dentinogenesis (DI). Recently, single heterozygous mutation (c.-14C>T) in 5'UTR IFITM5 gene was identified to be causative for OI-V. Here, we describe 7 individuals from 5 unrelated families that carry...
To assess at-birth health outcomes of neonates with osteogenesis imperfecta (OI).A total 53 women who self-reported having had at least one child OI completed the survey. We evaluated pregnancy length, neonatal intensive care unit (NICU) usage, complications, and child's clinical information including type, height weight.Information was gathered on a 77 children (60 type I, 4 III 13 IV). Health conditions reported birth included breech presentation (24%), prematurity (27%), fracture (18%),...
To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.
Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- intra-familial variability several signs both diseases. Recently, after the observation that some individuals first ascertained by a suspicion EDS resulted then carriers pathogenic variants genes known primarily cause OI, authors proposed term...
To characterize the fracture pattern and clinical history at time of diagnosis osteogenesis imperfecta.In this retrospective study, all patients with imperfecta, both genders, aged 0-18 years, who were treated between 2002 2014 included. Medical records assessed to collect data, including presence blue sclerae, dentinogenesis positive familial site fractures. In addition, radiographic findings reviewed.Seventy-six (42 females) included in study. Individuals' age ranged from 0 114 months, a...
Objective: Vitamin D is essential to the development and maintenance of skeleton, especially for children with bone disorders such as osteogenesis imperfecta (OI). We evaluated serum 25-hydroxyvitamin (25-OHD) levels assess relationship between determinants vitamin status in pediatric patients OI.Methods: This cross-sectional study sex, age, weight, height, body mass index, OI type, sunscreen use, season assessment, sun exposure, calcium supplementation, bisphosphonate treatment, mineral...
Pycnodysostosis is an ultra-rare osteosclerotic skeletal disorder characterized by short stature, susceptibly to fractures, acroosteolysis of the distal phalanges, and craniofacial features (frontal bossing, prominent nose, obtuse mandibular angle, micrognathia). Dental abnormalities (delayed eruption teeth, hypodontia, malocclusion, dental crowding, persistence deciduous enamel hypoplasia, increased caries) are also frequent; due bone metabolism alteration, patients have risk for jaw...
Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing candle wax. The disease sporadic and pathogenesis still poorly understood. Occasionally, same family can include individuals with MEL Osteopoikilosis (OPK), a multiple round foci increased bone density. LEMD3 gene mutations are related to OPK Buschke–Ollendorff Syndrome, genetic condition in which association between MEL, skin lesions observed. In rare cases, recently...
Abstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, early osteoarthritis. COL2A1 , COL11A1 COL11A2 mutations account of the majority autosomal dominant and, particular, heterozygous mutation gene identified about 10 20% patients. Methods Herein, we report case an 8‐year‐...
Treatment of moderate and severe forms osteogenesis imperfecta (OI) with cyclic pamidronate at the Reference Center for OI in Southern Brazil was studied. A retrospective cohort study conducted from 2002 to 2012. Data were obtained during inpatient (drug infusion) outpatient care. Clinical data, including presence blue sclerae, dentinogenesis imperfecta, history site fractures, biochemical calcium, phosphorus, alkaline phosphatase levels, systematically collected. Bone mineral density (BMD)...