Results 71 to 80 of about 16,290 (203)

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome

Clinical Genetics, Volume 108, Issue 5, Page 576-581, November 2025.
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giorgia Gemma, Antonio Ammendola, Arteen Torabi‐Marashi, Eleonora di Venere, Gabriella Maria Squeo, Vincenzo Rallo, Maria Giuseppina Marini, Paolo Moi, Salvatore Savasta, Rosanna Weksberg, Giuseppe Merla, Andrea Angius   +16 more
wiley   +1 more source

Bilateral Congenital Dislocation of the Knee with Ipsilateral Developmental Dysplasia of the Hip – Report of Three Patients [PDF]

, 2010
Congenital dislocation of the knee (CDK) is a very rare condition. Here we report our strategy and results in treatment of three children with CDK. All three patients were treated with conservative method, and only one had underwent a surgical procedure ...
Barbara Gruber, Branko Šestan, Darko Ledić, Ivan Rakovac, Sandor Roth, Zdenko Ostojić   +5 more
core   +1 more source

Matrix: a complex amalgam of structures and functions in tumor microenvironment

FEBS Open Bio, Volume 15, Issue 10, Page 1552-1569, October 2025.
The matrix is a dynamic, intricate three‐dimensional mesh of biomolecules with both structural and functional properties. This review deals with the complexity of this ‘molecular amalgam’ in the tumor microenvironment and highlights its importance in the maintenance and evolution of tumors by describing certain matrix biomolecules, such as ...
Spyros S. Skandalis, Evgenia Tsoukala, Theodora D. Sarantopoulou, Maria‐Elpida Christopoulou   +3 more
wiley   +1 more source

Prediction of time to prosthesis implantation as a function of joint anatomy in patients with developmental dysplasia of the hip [PDF]

, 2019
BACKGROUND: Developmental dysplasia of the hip (DDH) can lead to pain and premature secondary osteoarthritis at an early stage. Joint-preserving osteotomy is an established solution to this problem.
Müller, Michael, Perka, Carsten, Rakow, Anasthasia, Wassilew, Georgi I., Winkler, Tobias   +4 more
core   +1 more source

MODIFIED DEGA OSTEOTOMY IN TREATING DEVELOPMENTAL DYSPLASIA OF THE HIP [PDF]

Acta Ortopédica Brasileira, 2018
Objective: To retrospectively evaluate the preliminary postoperative results of modified Dega-type acetabular osteotomy to treat developmental dysplasia of the hip, confirming the efficacy and reproducibility of this technique.
ROBERTO GUARNIERO, FERNANDO BARBOSA SANCHEZ, BRUNO SERGIO FERREIRA MASSA, NEI BOTTER MONTENEGRO, PATRÍCIA MORENO GRANGEIRO, LUIZ RENATO AGRIZZI DE ANGELI   +5 more
doaj   +1 more source

Deciphering the Acetabular Labrum's Cellular Atlas: MDK Inhibition as a Novel Therapeutic Method for Developmental Dysplasia of the Hip

Advanced Science, Volume 12, Issue 37, October 6, 2025.
This study explores developmental dysplasia of the hip (DDH) by analyzing acetabular labrum abnormalities using single‐cell and spatial transcriptomics. Aberrant fibrocartilage stem cell proliferation is linked to DDH progression. Targeting the MK signaling pathway with a specific inhibitor effectively alleviates early DDH abnormalities, offering ...
Runze Yang, Huiling Liu, Minghao Ge, Dingyuan Zhang, Tianhao Xu, Lei Zhang, Yanlin Zhu, Shun Li, Jian Li, Xin Ma, Weili Fu   +10 more
wiley   +1 more source

Luxación congénita de cadera: nuestra experiencia [PDF]

, 1991
La luxación congénita de cadera (L.C.C.) representa, aún hoy día, un auténtico problema dentro de la ortopedia infantil por su frecuencia y sobre todo por las secuelas invalidantes que un diagnóstico tardío puede condicionar.
Lopez Vizcaya, F., Saenz López de Rueda, F.   +1 more
core  

Update on pediatric hip imaging [PDF]

, 2017
Hip disorders are common in children. Prompt diagnosis and treatment are important because of the potential complications. Symptoms are frequently nonspecific, and clinical examination can be difficult and unreliable, especially in smaller children ...
Herregods, Nele, Jans, Lennart, Jaremko, Jacob, Vanhoenacker, Filip   +3 more
core   +2 more sources

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bijay Bastola, Sweekar Dahal, Ramesh Raj Acharya, Manish Sah, Pratisma Wagle   +4 more
wiley   +1 more source

Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]

, 2011
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M, Kohannim, Omid, Peredo, Jane, Quintero-Rivera, Fabiola   +3 more
core   +2 more sources