Results 41 to 50 of about 39,956 (278)

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

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
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

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

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

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 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

Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength [PDF]

, 2012
Osteoporosis is a common polygenic disease and global healthcare priority but its genetic basis remains largely unknown. We report a high-throughput multi-parameter phenotype screen to identify functionally significant skeletal phenotypes in mice ...
Gogakos Apostolos, Campbell, MJ, Anne H. van der Spek (145990), Campbell Michael J., Gogakos, A, Sunter, D, Williams, GR, David Sunter, Bassett, JHD, Boyde, A, Michael J. Campbell (5833), Sunter, D., Richard M Jacques, Project, S.M.G., Alan Boyde (146008), Croucher Peter I., Ramirez-Solis, R, Williams, G.R., Richard M. Jacques (145985), van der Spek Anne H., Holly Evans (145980), Bassett, J.H.D., Ryder, E, Edward Ryder (145998), Peter I. Croucher (146016), Graham R Williams, Evans, H, Bassett J. H. Duncan, Jacques, RM, Anne H van der Spek, J. H. Duncan Bassett (145971), Croucher, PI, Peter I Croucher, Project, SMG, Ryder, E., David Sunter (146002), Holly Evans, Gogakos, A., Jacqueline K. White (119191), Apostolos Gogakos (145975), Ramirez-Solis, R., Jacqueline K White, White Jacqueline K., Boyde, A., van der Spek, A.H., Evans, H., Michael J Campbell, Ramirez-Solis Ramiro, White, J.K., Jacques, R.M., J H Duncan Bassett, Apostolos Gogakos, Jacques Richard M., Croucher, P.I., Ryder Edward, Graham R. Williams (20148), Campbell, M.J., Evans Holly, Ramiro Ramirez-Solis (119181), Williams Graham R., Ramiro Ramirez-Solis, Edward Ryder, Alan Boyde, van der Spek, AH, Sanger Mouse Genetics Project, Sunter David, White, JK, Boyde Alan   +67 more
core   +1 more source

Engineered Exosomal miR‐146a‐5p Reprograms BMSC Fate and Restores Mitochondrial Homeostasis in Glucocorticoid‐Induced Osteonecrosis of Femoral Head

Advanced Science, EarlyView.
Exosomal miR‐146a‐5p is identified as a pivotal regulator in steroid‐induced osteonecrosis. Its reduction activates NF‐κB signaling, compromises mitophagy, and disrupts mitochondrial bioenergetics, resulting in autophagic disequilibrium. Engineered exosomes delivering miR‐146a‐5p reinstate mitochondrial function, augment oxidative phosphorylation and ...
Zehui Lv, Xuejie Cai, Yiming Xu, Xingdong Yang, Ruoying Wang, Han Wang, Yixin Bian, Jiawei Xu, Jiao Lu, Lulu Liu, Yingjie Wang, Jibin Song, Bin Feng, Xisheng Weng   +13 more
wiley   +1 more source