Results 21 to 30 of about 12,756 (179)

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +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

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

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

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

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

Otopathology in Osteogenesis Imperfecta [PDF]

Otology & Neurotology, 2012
Osteogenesis Imperfecta (OI) is a genetic disorder of connective tissue matrix. OI is caused by mutations that affect type I collagen. The hearing loss in OI is characterized by onset in early adulthood and can be conductive, sensorineural, or mixed.To describe the temporal bone histopathology in 9 individuals with OI.Four adult, 1 pediatric, and 4 ...
Felipe, Santos, Andrew A, McCall, Wade, Chien, Saumil, Merchant   +3 more
openaire   +2 more sources

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source

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