Results 121 to 130 of about 236,374 (260)

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Balancing the Positives and Negatives: A Bibliometric Analysis of Positive and Negative Study Publication Patterns in High-Impact General Medical Journals. [PDF]

Cureus
Vipler BS, Arnet C, Keniston A, Mardo M, King CJ.   +4 more
europepmc   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Single-Fraction Stereotactic Body Radiotherapy for Early-Stage Lung Adenocarcinoma Within Atelectasis. [PDF]

Cureus
Daniels J, Mou B.
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

A Cholesterol Analogue for Cell‐Surface Enzyme Display

Angewandte Chemie, EarlyView.
We report a non‐genetic strategy for bacterial cell surface enzyme immobilisation using cholesterol‐based artificial lipids containing Ni2+‐NTA binding groups that can integrate into biological membranes. The engineered cells can capture His‐tagged enzymes directly from cell lysates while preserving intracellular and surface activity, allowing for ...
Vasco F. Batista, Nele Van Wyngaerden, Changzhu Wu, Frank Glorius   +3 more
wiley   +2 more sources

Unpacking uncertainty in polygenic risk scores: Playing "risk score roulette". [PDF]

J Alzheimers Dis
Koizia LJ, Allott VES, Harris BHL.
europepmc   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source

Ketazine‐Linked Covalent Organic Framework for Metal‐Free Electrocatalytic Nitrate‐to‐Ammonia Conversion

Angewandte Chemie, EarlyView.
A metal‐free fluorinated ketazine‐linked COF is introduced as an efficient electrocatalyst for nitrate reduction to ammonia under neutral conditions. Fluorine substitution enhances π–π stacking and crystallinity, enabling a Faradaic efficiency of 59.9% and an NH3 yield rate of 1639.9 µmol h−1 mgCOF−1 at −0.9 V versus RHE. This establishes an unexplored
Islam E. Khalil, Ashadul Adalder, Badr Elkamash, Narad Barman, Darosch Asgari, Luoxing Xiang, Warisha Tahir, Franziska Hess, Ranjit Thapa, Adisak Boonchun, Uttam Kumar Ghorai, Prasenjit Das, Arne Thomas   +12 more
wiley   +2 more sources

Specific Ion Effects of Chaotropic and Superchaotropic Anions Probed by Raman Hydration‐Shell Spectroscopy

Angewandte Chemie, EarlyView.
The vibrational frequencies of “dangling” water O─H bonds can be determined by Raman hydration‐ shell spectroscopy and used to differentiate chaotropes from kosmotropes and hydrophobes. Dangling O─H bonds are also detected around superchaotropic anions of the borate cluster type (B12X122−; X = H, F, Cl, Br, and I) but their frequencies do not directly ...
Werner M. Nau, Denilson Mendes de Oliveira, Andres S. Urbina, Harald Knorke, Jonas Warneke, Andrea Barba‐Bon, Dor Ben‐Amotz   +6 more
wiley   +2 more sources