Results 41 to 50 of about 385,840 (284)

Morphology and development of a novel murine skeletal dysplasia [PDF]

PeerJ, 2019
Background Limb bones develop and grow by endochondral ossification, which is regulated by specific cell and molecular pathways. Changes in one or more of these pathways can have severe effects on normal skeletal development, leading to skeletal ...
Marta Marchini, Elizabeth Silva Hernandez, Campbell Rolian   +2 more
doaj   +2 more sources

Complex orthopaedic management of patients with skeletal dysplasias

Travmatologiâ i Ortopediâ Rossii, 2016
Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the ...
A. G. Baindurashvili, V. M. Kenis, E. V. Melchenko, F. Grill, A. Al-Kaissi   +4 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 1996
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Dillon, MJ, Richards, A, Brain, C   +3 more
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

JIMD Reports, 2020
Purpose Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs).
Thomas J. Langan, Kabir Jalal, Amy L. Barczykowski, Randy L. Carter, Molly Stapleton, Kenji Orii, Toshiyuki Fukao, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu   +9 more
doaj   +1 more source

Intelligent Orthopedics: Machine Learning in Diagnosis of Bone Disease, Implants, and Bone Health Monitoring

Advanced Healthcare Materials, EarlyView.
Efficient recovery from traumatic or degenerative diseases is a great challenge, even after all the advancements in bone and cartilage regeneration. Machine learning (ML) algorithms have presented opportunities to enhance these aspects by accurately analyzing imaging data.
Maryam Kamaei, Hesam Mohammadi, Shamim Golafshan, Mojtaba Alehosseini, Mahsa Mohammadzadeh, Atefeh Golshirazi, Nasim Golafshan, Tatiane Eufrásio‐da‐Silva, Alireza Dolatshahi‐Pirouz, Gorka Orive   +9 more
wiley   +1 more source

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis

Orphanet Journal of Rare Diseases
Background Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature.
Genevieve Baujat, Marc-Antoine Hamandjian, Anne-Sophie Jannot, Pierre Karam, Valérie Cormier-Daire   +4 more
doaj   +1 more source

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population. [PDF]

PLoS ONE, 2015
Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities,
Eun Jin Woo, Won-Joon Lee, Kyung-Seok Hu, Jae Joon Hwang   +3 more
doaj   +1 more source

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton

Advanced Science, EarlyView.
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Lucie E. Bourne, Aikta Sharma, Scott Dillon, Jacob Keen, Soher N. Jayash, Natalie Crump, Lucinda A.E. Evans, Maya Karmali, Worachet Promruk, Claire E. Clarkin, Sonoko Narisawa, Louise Stephen, Brian L. Foster, José Luis Millán, Colin Farquharson, Katherine A. Staines   +15 more
wiley   +1 more source

Anauxetic dysplasia: A rare clinical entity

The Turkish Journal of Pediatrics, 2018
Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional clinical features.
Özlem Akgün-Doğan, Pelin Özlem Şimsek-Kiper, Gülen Eda Utine, Koray Boduroğlu   +3 more
doaj   +1 more source