Results 61 to 70 of about 40,560 (235)

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

Using the Transverse Acetabular Ligament as a Landmark for Acetabular Anteversion: An Intraoperative Measurement

Journal of Orthopaedic Surgery, 2013
Purpose. To measure the transverse acetabular ligament (TAL) anteversion in hips with severe deformity, using fluoroscopy–computed tomographic navigation. Methods.
Masahiro Inoue, Tokifumi Majima, Satomi Abe, Takayuki Nakamura, Taiki Kanno, Takeshi Masuda, Akio Minami   +6 more
doaj   +1 more source

Ultrasound screening for developmental dysplasia of the hip and its socioeconomic impact: Experience of tertiary care health level

Alexandria Journal of Medicine, 2014
Objective: The purpose of this study was to investigate the usefulness of screening ultrasound to detect developmental dysplasia of the hip in infants with risk factors and to assess its socioeconomic impact. Patients and methods: This is a retrospective
Khaled Aly Matrawy, Mohamed Ragab Nouh
doaj   +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

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

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

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

Current Landscape of Short‐T2 Imaging Techniques in the Musculoskeletal System: The Past, Present and Future

Journal of Magnetic Resonance Imaging, Volume 62, Issue 4, Page 969-985, October 2025.
ABSTRACT Conventional MRI is limited in imaging tissues with short T2 relaxation times, such as bone, ligaments, and cartilage, due to their rapid signal decay. This limitation has spurred the development of specialized MRI techniques designed specifically for short‐T2 tissue imaging.
Pranjal Rai, Amit Kumar Janu, Nitin Shetty, Suyash Kulkarni   +3 more
wiley   +1 more source

FEATURES OF THA IN PATIENTS WITH HIGH CONGENITAL HIP DISLOCATION

Travmatologiâ i Ortopediâ Rossii, 2017
There are a fair number of papers presenting the outcomes of total hip arthroplasty with shortening subtrochanteric osteotomy in neglected hip dislocation. In most of them the authors used long modular stems or Wagner stems as a femoral component.
B. V. Kamshilov, A. S. Tryapichnikov, О. К. Chegurov, A. S. Zhdanov, О. P. Zaitseva   +4 more
doaj   +1 more source

CADAVERIC STUDY ON THE LEARNING CURVE OF THE TWO-APPROACH GANZ PERIACETABULAR OSTEOTOMY [PDF]

Acta Ortopédica Brasileira, 2016
Objective : The Bernese periacetabular osteotomy (PAO) is a widely used technique for the treatment of non-arthritic, dysplastic, painful hips. It is considered a highly complex procedure with a steep learning curve.
Fernando Portilho Ferro, Leandro Ejnisman, Helder Souza Miyahara, Christiano Augusto de Castro Trindade, Antônio Faga, José Ricardo Negreiros Vicente   +5 more
doaj   +1 more source