Results 31 to 40 of about 13,604 (137)

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta

Orphanet Journal of Rare Diseases, 2018
On the occasion of the 13th International Conference on Osteogenesis imperfecta in August 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with Osteogenesis ...
Brigitte Mueller, Raoul Engelbert, Frances Baratta-Ziska, Bart Bartels, Nicole Blanc, Evelise Brizola, Paolo Fraschini, Claire Hill, Caroline Marr, Lisa Mills, Kathleen Montpetit, Verity Pacey, Miguel Rodriguez Molina, Marleen Schuuring, Chantal Verhille, Olga de Vries, Eric Hiu Kwong Yeung, Oliver Semler   +17 more
doaj   +1 more source

Pregnancy‐ and lactation‐associated osteoporosis: A position statement of the IAPM, IOF, ECTS, ESCEO, IMS, and EMAS

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Pregnancy‐ and lactation‐associated osteoporosis (PLO) is a syndrome characterized by fragility fractures (most commonly vertebral, often multiple) occurring in late pregnancy or the early postpartum period. This position statement summarizes the current knowledge of PLO, and the recommended procedure for assessment, diagnosis and treatment ...
Peyman Hadji, Apostolos Athanasiadis, Maria‐Luisa Brandi, Marlene Chakhtoura, Manju Chandran, Frank Chervenak, Amos Grünebaum, Irene Lambrinoudaki, Willem F. Lems, Apostolos M. Mamopoulos, Eugene McCloskey, Rossella E. Nappi, Jessica Pepe, Jean‐Yves Reginster, René Rizzoli, Petra Stute, Şansın Tuzun, Amanda J. Vincent, Maria Belen Zanchetta, M. Carola Zillikens, Ioannis Kyvernitakis   +20 more
wiley   +1 more source

Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis

Radiology Case Reports, 2020
Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and ...
Jane L. Ferguson, MBBS, BSc, MRCP, FRCR, Susan R.J. Burrows, MBBS, FRCR   +1 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Lysine Oxidation by LOXL2 in Single Strands Versus Triple Helices: Implications for Collagen‐Related Diseases

Angewandte Chemie, Volume 138, Issue 43, 19 October 2026.
The oxidation of Lys residues in proline‐rich single‐stranded collagen by LOXL2, a key enzyme for tissue maturation and linked to diseases, was revealed. Oxidation occurs at rates comparable to or higher than those of Lys in unstructured telopeptides, the well‐known native sites of Lysyl oxidase (LOX) activity.
Laura M. Poller, Tomas Fiala, Helma Wennemers   +2 more
wiley   +2 more sources

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

Orphanet Journal of Rare Diseases
Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch   +9 more
doaj   +1 more source

CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA

Педиатрическая фармакология, 2015
Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures.
G. T. Yakhyayeva, T. V. Margieva, L. S. Namazova-Baranova, K. V. Savostyanov, A. A. Pushkov, N. V. Zhurkova, K. V. Zherdev, N. D. Vashakmadze, A. K. Gevorkyan   +8 more
doaj   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults

Orphanet Journal of Rare Diseases
Background The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers and wider society.
Tracy Hart, Ingunn Westerheim, Taco van Welzenis, Oliver Semler, Cathleen Raggio, Frank Rauch, Ruby Dadzie, Samantha Prince, Lena Lande Wekre   +8 more
doaj   +1 more source

Avulsion fracture of the olecranon for the diagnosis of osteogenesis imperfecta case report

Acta Orthopaedica et Traumatologica Turcica, 2021
Avulsion fractures of olecranon in children are very rare and often associated with osteogenesis imperfecta. In this study we report a child who has been followed for constitutional growth retardation for five years.
Abdurrahman Ozcelik, Akin Turgut, Gokhan Maralcan, Sinan Seber   +3 more
doaj