Results 41 to 50 of about 598,158 (213)

Pathomechanics of structural foot deformities

, 1988
This article presents the most common structural foot deformities encountered in clinical practice. The deformities are defined, and the expected compensations at the subtalar joint (STJ) are described.
David Tiberio
core   +1 more source

Protocol for the Foot in Juvenile Idiopathic Arthritis trial (FiJIA): a randomised controlled trial of an integrated foot care programme for foot problems in JIA [PDF]

, 2009
<b>Background</b>: Foot and ankle problems are a common but relatively neglected manifestation of juvenile idiopathic arthritis. Studies of medical and non-medical interventions have shown that clinical outcome measures can be improved ...
Sturrock, R.D., Hendry Gordon J, McColl, John, Sturrock Roger D, Lorgelly Paula K, Woodburn Jim, Woodburn, J., McColl John, Gardner-Medwin, J., Gardner-Medwin Janet, Turner, Deborah E., Browne, Michael, Browne Michael, Lorgelly, Paula K., Hendry, Gordon J., Sturrock, Roger D., Woodburn, James, Watt Gordon F, Gardner-Medwin, Janet, Hendry, Gordon; id_orcid, Browne, M., Turner Deborah E, Friel, L., Turner, D.E., Friel, Lorraine, Hendry, G.J., Friel Lorraine, McColl, J., Lorgelly, P., Watt, G.F., Watt, Gordon F.   +30 more
core   +1 more source

A Pooled CRISPR Screen Reveals Genes Critical for Erythroblast Enucleation

American Journal of Hematology, EarlyView.
ABSTRACT Terminal erythroid differentiation involves dramatic cellular remodeling that culminates in the expulsion of the nucleus, a process known as enucleation. While enucleation is conserved across mammals and is crucial for the generation of fully functional erythrocytes, the mechanisms governing this process have remained largely unknown, in part ...
Marilou Tetard, Tianjian Lin, Nana A. Peterson, Rebekah C. Gullberg, Yann Le Guen, Jasmine Moshiri, John G. Doench, Elizabeth S. Egan   +7 more
wiley   +1 more source

Orthopedic management of spina bifida. Part I: Hip, knee, and rotational deformities

Journal of Children's Orthopaedics, 2009
Children with spina bifida develop a wide variety of congenital and acquired orthopedic deformities. Among these are hip deformities such as contracture, subluxation, or dislocation.
Vineeta T. Swaroop, Luciano Dias
doaj   +1 more source

Congenital cleft foot deformity

, 2010
Cleft foot or ectrodactyly is a rare congenital anomaly. It is often associated with cleft hands. Most early authors advised non-operative treatment but more recently surgical treatment has been advised.
R. Kumar, Turner, PG, Kumar, R, Q. Choudry, P.G. Turner, Choudry, Q   +5 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Progressive digital gigantism due to macrodystrophia lipomatosa: Surgical management and functional restoration in a pediatric patient

Journal of the Foot & Ankle
Macrodystrophia lipomatosa is a rare, non-hereditary congenital malformation characterized by disproportionate tissue growth, with fibro-fat proliferation.
Gabriela Rosa Meira, Felipe Alves do Monte, Rodrigo Pastick Fujino, Clicia Grazielly de Lima Moura, Myllena Caetano Leite Inácio dos Santos   +4 more
doaj   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Bilateral cleft foot: Radiographic and prenatal ultrasound features of two siblings with a review of literature

Medicina, 2016
Cleft foot deformity, also known as ectrodactyly, is a rare congenital developmental defect of extremities caused by malformation in continuity of apical ectoderm.
Mehmet Sedat Durmaz, Hakan Demirtaş, Salih Hattapoğlu, Taylan Kara, Cemil Göya, Mehmet Emin Adin   +5 more
doaj   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source