Results 41 to 50 of about 34,011 (292)

Generalized Joint Hypermobility: A Statistical Analysis Identifies Non-Axial Involvement in Most Cases

Children
Context: Joint hypermobility (JH) represents the extreme of the normal range of motion or a condition for a group of genetically determined connective tissue disorders. Generalized joint hypermobility (GJH) is suspected when present in all four limbs and
Mateus Marino Lamari, Neuseli Marino Lamari, Michael Peres de Medeiros, Matheus Gomes Giacomini, Adriana Barbosa Santos, Gerardo Maria de Araújo Filho, Eny Maria Goloni-Bertollo, Érika Cristina Pavarino   +7 more
doaj   +1 more source

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

PLoS ONE, 2016
Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a ...
Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa   +24 more
doaj   +1 more source

SAPHO syndrome with acne fulminans and severe polyosteitis involving axial skeleton.

Indian Dermatol Online J, 2016
Divya BL, Rao PN.
europepmc   +2 more sources

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
wiley   +1 more source

Fetus Amorphous Acardious – A Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2016
Fetus amorphous acardious is a rare fetal malformation lacking a functional heart and bearing no resemblance to human embryos. The main differential diagnosis is with placental teratoma and is based on the degree of skeletal organization and ...
N. S. Kamakeri
doaj  

Morphology of the axial skeleton of seven bat genera (Chiroptera: Phyllostomidae)

Anais da Academia Brasileira de Ciências, 2017
Here we present detailed descriptions and comparisons of the axial skeleton of seven species of bats belonging to five subfamilies of Phyllostomidae of different trophic guilds.
PABLO J. GAUDIOSO, M. MÓNICA DÍAZ, RUBÉN M. BARQUEZ   +2 more
doaj   +1 more source

Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases

Biomolecules, 2023
Zebrafish are increasingly becoming an important model organism for studying the pathophysiological mechanisms of human diseases and investigating how these mechanisms can be effectively targeted using compounds that may open avenues to novel treatments ...
Judith Van Wynsberghe, Olivier M. Vanakker   +1 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Disseminated Tuberculosis Mimicking Ankylosing Spondylitis

Case Reports in Rheumatology, 2011
Ankylosing spondylitis is a chronic inflammatory disorder affecting mainly the axial skeleton. Here we report a case of a man with a clinical suspicion of ankylosing spondylitis but with a persistence of increased inflammatory markers.
Valérie Huyge, Serge Goldman, Muhammad S. Soyfoo   +2 more
doaj   +1 more source

The neck as a keystone structure in avian macroevolution and mosaicism

BMC Biology, 2023
Background The origin of birds from non-avian theropod dinosaur ancestors required a comprehensive restructuring of the body plan to enable the evolution of powered flight.
Ryan D. Marek, Ryan N. Felice
doaj   +1 more source