Results 261 to 270 of about 120,452 (371)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Musculocutaneous Nerve Compression by a Humeral Osteophyte: An Unusual and Difficult-to-Diagnose Cause of Peripheral Neuropathy. [PDF]

Cureus
Mari R, Huttin G.
europepmc   +1 more source

OSA Initiates Histone Lactylation That Drives PDE4B/FUS/AGT Axis to Pulmonary Hypertension

Cell Proliferation, EarlyView.
This study illustrates how chronic intermittent hypoxia (CIH) in obstructive sleep apnea (OSA) leads to hypertension via increased oxidative stress and mitochondrial dysfunction in pulmonary artery smooth muscle cells (PASMCs), causing glycolytic dysregulation. Lactate accumulation enhances histone lactylation, upregulating phosphodiesterase 4B (PDE4B),
Li Yang, Qing Ni, Yan He, Shijie Liu, Lulu Gan, Anni Dai, Yang Hu, Qian Liu, Xueling Yang, Jiqian Li, Yi Tao, Yunyu Li, Mingyue Xu   +12 more
wiley   +1 more source

Piriformis Syndrome Is Often Overlooked as a Cause of Gluteal Pain and Sciatica: Diagnostic Challenges and the Role of Imaging-A Narrative Review. [PDF]

HSS J
Alrabai HM, Alrashidi Y, AlEtebi RAA, Mufti TMA, Alali MYA, Alnazhan ASA.   +5 more
europepmc   +1 more source

Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, EarlyView.
The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava, Utkarsh J. Dang, Claire Wood, Sze Choong Wong, Leanne M. Ward, Robert Muni Lofra, Anna Mayhew, William B. Martens, Stephanie Gregory, Robert C. Griggs, Michela Guglieri, on behalf of the FOR‐DMD Muscle Study Group, Adnan Manzur, Amos Rachel, Andrea Gangfuss, Anne Marie Childs, Ashutosh Kumar, Barbara E. Herr, Basil T. Darras, Chris Speed, Craig Campbell, Craig M. McDonald, Ekkehard Wilichowski, Elaine McColl, Elena Pegoraro, Emma Ciafaloni, Erik K. Henricson, Federica Ricci, Gian Luca Vita, Giovanni Baranello, Giuseppe Vita, Helen Roper, Hugh J. McMillan, Iain A. Horrocks, Imelda Hughes, James F. Howard, Janbernd Kirschner, Jay J. Han, Jean K. Mah, Jeffrey M. Statland, Jennifer Wilkinson, Kate Bushby, Kathleen O’Reardon, Kevin M. Flanigan, Kimberly A. Hart, Leslie Morrison, Lorenzo Maggi, Luca Bello, Maja von der Hagen, Mary W. Brown, Mathula Thangarajh, Matthew Wicklund, Michael P. McDermott, Michelle Eagle, Monika Krzesniak‐Swinarska, Nancy L. Kuntz, Nanette Joyce, Perry B. Shieh, Peter B. Kang, Rabi Tawil, Richard J. Barohn, Richard S. Finkel, Russell J. Butterfield, Stefan Spinty, Taeun Chang, Tiziana E. Mongini, Tracey Willis, Ulrike Schara‐Schmidt, Volker Straub, W. Bryan Burnette, Wendy M. King, Zoya Alhaswani   +71 more
wiley   +1 more source

Thermal touch and anatomical insight: Roman terracotta vessels as proto-clinical maps of the human body. [PDF]

Anat Cell Biol
Hwang K.
europepmc   +1 more source

Neurogenic pectoralis minor syndrome in the differential diagnosis of neck pain: A case series with diagnostic ultrasound-guided pectoralis minor muscle block. [PDF]

Medicine (Baltimore)
Kurt Oktay KN, Unlu Ozkan F, Aktas I.
europepmc   +1 more source

Psychometric properties of functional mobility outcome measures in children with arthrogryposis multiplex congenita

Developmental Medicine &Child Neurology, EarlyView.
The scores of the Functional Mobility Scale, Gillette Functional Assessment Questionnaire, Functional Independence Measure for Children, and Patient‐Reported Outcomes Measurement Information System showed robust construct validity. The MID values reported in this study provide clinicians and researchers with evidence‐based benchmarks for assessing and ...
Ahlam Zidan, Laurie Snider, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Noémi Dahan‐Oliel   +5 more
wiley   +1 more source

Bilateral quadricipital biceps brachii: a rare anatomical variation with clinical implications. [PDF]

Anat Cell Biol
Ahmet K, Otero-Pfaeffle D, Avilova O, Shoja MM.   +3 more
europepmc   +1 more source

Contribution of neuromuscular Impairment to physical functional Status in Patients with Lumbar Spinal Stenosis [PDF]

, 1994
Fossel, Anne H., Katz, Jeffrey N., Liang, Matthew H., Lipson, Stephen J., Stucki, Gerold   +4 more
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