Results 141 to 150 of about 1,222,695 (300)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Diffusion and utilization of magnetic resonance imaging in Asia. [PDF]

, 2002
OBJECTIVES: An assessment of the current status of magnetic resonance imaging (MRI) was undertaken to provide input for future government decisions on the introduction of new technologies in Asia. The objective of the study is to describe and explain the
Hutubessy, Raymond CW, Hanvoravongchai, Piya, Asian MRI Study Group, Edejer, Tessa Tan-Torres   +3 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Exploring the Relationship Between Sleep Apnea, Myocardial Infarct Size, and Coronary Collaterals in Acute Myocardial Infarction: A Multidisciplinary Study

Nature and Science of Sleep
Vaishnavi Kundel,1 Kavya Devarakonda,1 Samira Khan,1 Mayte Suarez-Farinas,1 Oren Cohen,1 Carlos Santos-Gallego,1 Mark A Menegus,2 Annapoorna Kini,1 Yuliya Vengrenyuk,1 Naotaka Okamoto,1 Hiroshi Ueda,1 Umesh Gidwani,1 Jorge R Kizer,3 Susan Redline,4 ...
Kundel V, Devarakonda K, Khan S, Suarez-Farinas M, Cohen O, Santos-Gallego C, Menegus MA, Kini A, Vengrenyuk Y, Okamoto N, Ueda H, Gidwani U, Kizer JR, Redline S, Kaplan R, Shah N   +15 more
doaj  

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Cytokine Pathways Driving Diverse Tissue Pathologies in Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Rheumatoid arthritis (RA) is a complex systemic disorder characterized primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease, such as that of the lung, with potentially devastating clinical consequences. The critical importance of comorbidities,
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Quantitative cardiac MRI

, 2020
Cardiac MRI has become an indispensable imaging modality in the investigation of patients with suspected heart disease. It has emerged as the gold standard test for cardiac function, volumes, and mass and allows noninvasive tissue characterization and ...
Knott, KD, Bhuva, AN, Moon, JC, Seraphim, A, Manisty, C, Augusto, J   +5 more
core  

High‐Resolution Deep Learning Dixon Magnetic Resonance Imaging of the Sacroiliac Joints Is Noninferior to Standard Magnetic Resonance Imaging in Patients With Suspected Axial Spondyloarthritis

Arthritis &Rheumatology, EarlyView.
Objective To compare the multisequence standard magnetic resonance imaging (sMRI) protocol of the sacroiliac joints with a single high‐resolution deep learning–reconstructed Dixon sequence (DL‐Dixon) in patients with suspected axial spondyloarthritis (axSpA). Methods Seventy‐six patients with chronic low back pain and suspected axSpA underwent clinical,
Dominik Deppe, Mariam Koka, Fabian Proft, Sevtap Tugce Ulas, Kay‐Geert Hermann, Denis Poddubnyy, Mikhail Protopopov, Henriette Baum, Hildrun Haibel, Mehrgan Shahryari, Valeria Rios Rodriguez, Jens Vogel‐Claussen, Torsten Diekhoff   +12 more
wiley   +1 more source