Results 11 to 20 of about 9,568 (137)

Defining sagittal knee phenotypes via monopedal static anterior tibial translation. Part 2: The assessment‐led personalization (ALP) system for indication and correction target planning in slope‐reducing osteotomy

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Current decision‐making for slope‐reducing osteotomy (SRO) often relies on isolated posterior tibial slope (PTS) thresholds, potentially misidentifying patients with acquired soft‐tissue decompensation or possibly overtreating those with an asymptomatic, inherently hyperlax baseline.
Mahmut Enes Kayaalp, Hamit Caglayan Kahraman, Tunay Erden, Christoph Lutter, Sven Scheffler, Omer Taser, Roland Becker, Michael T. Hirschmann, David H. Dejour   +8 more
wiley   +1 more source

From Disability to Diagnosis: Baseline Findings from the Calgary Functional Movement Disorder Registry

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Functional movement disorder (FMD), a subtype of functional neurological disorder, is a complex neuropsychiatric syndrome characterized by inconsistent and incongruent motor symptoms. Despite its relatively high prevalence, FMD remains associated with delayed diagnosis, significant disability, and limited evidence to guide ...
Andrea Soumbasis, Brian Steele, Megan Howlett, Kate Kain, Davide Martino, Kimberly G. Williams, Gabriela S. Gilmour   +6 more
wiley   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Beyond Joint Hypermobility: Investigating Bladder Dysfunction in Hypermobile Ehlers‐Danlos Syndrome

Neurourology and Urodynamics, EarlyView.
ABSTRACT Introduction and Objectives Hypermobile Ehlers‐Danlos Syndrome (hEDS) is the most common subtype of Ehlers‐Danlos Syndrome, a group of connective tissue disorders caused by collagen abnormalities. While musculoskeletal features of hEDS are well characterized, its impact on visceral organs, including the bladder, remains underexplored.
Marium Ansari, Mallory Pine, Viktoriya Sapkalova, Emily Chan Brodowsky, Charles R. Powell, Ramzy T. Burns   +5 more
wiley   +1 more source

DIFFERENTIATED INFRASTRUCTURAL CITIZENSHIP: Claims‐Making and the Limits to Transformative Urbanization in a Fast‐Growing Small City

International Journal of Urban and Regional Research, EarlyView.
Abstract This article develops the concept of differentiated infrastructural citizenship (DIC) to explain how infrastructural citizenship is materially mediated, socially differentiated, and unevenly exercised in a rapidly urbanizing small city. It advances scholarship on infrastructural citizenship and everyday claims‐making as political participation
Nidhi Subramanyam
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Comparative diagnostic challenges in two horses with skin fragility disorders

Equine Veterinary Education, EarlyView.
Summary Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive connective tissue disorder of horses caused by a missense mutation (c.115G>A) in the peptidyl‐prolyl cis–trans isomerase B (PPIB) gene, resulting in defective collagen organisation.
M. Biolchi, F. A. Saiki, T. G. Cristo, M. C. Silva, R. J. Souza, A. F. Souza, R. A. Casagrande, J. H. Fonteque, C. I. G. Vogel   +8 more
wiley   +1 more source

Risk Factors and Clinical Severity in Chronic Venous Disease: A New Look

International Journal of Dermatology, EarlyView.
Genetic factors, such as gender and positive family history, were associated with the occurrence of mild‐stage disease (CEAP C1–3). Obesity, lack of exercise, and working more than 8 h in a sitting or standing position are strongly associated with severe venous disease (CEAP C4–6).
Éva Badak, Eszter A. Janka, Patrícia Ari, Edina Bodnár, Krisztina Varga, László Virág, Éva Szabó   +6 more
wiley   +1 more source

Oral Manifestations of Non Vascular Ehlers‐Danlos Syndrome Cross‐Sectional Study

Oral Diseases, EarlyView.
ABSTRACT Background Ehlers–Danlos syndromes are rare hereditary connective tissue disorders; however, their oral manifestations remain poorly characterized in molecularly confirmed individuals. The aim of this study was to describe the oral phenotype of patients with non‐vascular Ehlers‐Danlos syndromes compared to healthy controls.
Aude Grand, Benjamin P. J. Fournier, Grégoire Chevalier, Karelle Benistan, François Côme Ferré   +4 more
wiley   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source