Results 81 to 90 of about 28,424 (265)

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances

Cell Death Discovery
Deficiency of adenosine deaminase 2 (DADA2) causes a complex phenotype of autoinflammation and immunodeficiency. Bone marrow failure is often refractory to treatment with tumour necrosis factor-alpha (TNF-alpha) inhibitors and additional treatment ...
Lisa Ehlers, Marjon Wouters, Bethany Pillay, Selket Delafontaine, Giorgia Bucciol, Marco Baggio, Mariia Dzhus, Anneleen Hombrouck, Alexandra Damerau, Lien De Somer, Rik Schrijvers, Steven Vanderschueren, Maarten Jacquemyn, Tilmann Kallinich, Dirk Daelemans, Bart Ghesquière, Patrizia Agostinis, Leen Moens, Isabelle Meyts   +18 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Framing anatomical variation in anatomy textbooks: Language use and its implications

Anatomical Sciences Education, EarlyView.
Text mining of anatomy textbooks shows “abnormal” is the most frequently used descriptor for anatomical variation, reinforcing a binary framing. We advocate for explicit teaching of variation as a spectrum, with consistent, neutral terminology and contextualization (prevalence and functional relevance) to support a more nuanced understanding of ...
An‐Di Yim, Matthew Schell, Alexandra Zachwieja   +2 more
wiley   +1 more source

When meta‐analyses mislead: Promises and pitfalls in teratology counselling

British Journal of Clinical Pharmacology, EarlyView.
Meta‐analysis has become a central tool for evidence synthesis in clinical teratology, offering the promise of increased statistical power, earlier signal detection and consolidated guidance for teratology counselling. When conducted rigorously and interpreted carefully, pooled analyses can provide clinicians with a structured basis for risk ...
Yusuf Cem Kaplan, Nusret Uysal
wiley   +1 more source

Animal empathy reconsidered: a multidimensional profile account

Biological Reviews, EarlyView.
ABSTRACT Empathy is the glue that holds societies together and yet several fundamental questions about empathy persist. What is empathy (the definitional question)? Is it uniquely human and, if not, which nonhuman animals possess empathy (the distribution question)? Which type or quality of empathy is realized in different species (the quality question)
Albert Newen, Maja Griem, Ludwig Huber, Thomas Bugnyar, Aaron Blaisdell, Simone Pika   +5 more
wiley   +1 more source

What Counts as Educational Innovation in Clinical Anatomy?

Clinical Anatomy, EarlyView.
ABSTRACT Clinical anatomy has become a prominent setting for educational innovation because it links anatomical science with diagnostic imaging, procedural practice, surgery, simulation, and patient safety. However, the term innovation is used inconsistently.
Juan A. Sanchis‐Gimeno, Mathis Orellana‐Donoso, Juan José Valenzuela‐Fuenzalida   +2 more
wiley   +1 more source

The Incidence, Severity and Clinical Consequence of Left Pulmonary Artery Stenosis After PDA Device Closure in Premature Infants Less Than 2 Kilograms

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Transcatheter patent ductus arteriosus (PDA) device closure is an effective treatment option for premature infants with hemodynamically significant PDA. Left pulmonary artery (LPA) stenosis has been reported as a complication, however there is limited data on risk factors, clinical significance, and long‐term outcomes.
Bryan Mosher, Robin Wolschendorf, Preston Boyer, Jimmy C. Lu, Ray Lowery, Sunkyung Yu, Ashley Duimstra, Jeffrey D. Zampi   +7 more
wiley   +1 more source

Impaired Flow and Physiology in Coronaries With Anomalous Origin From the Opposite Sinus of Valsalva

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Anomalous Aortic Origin of a Coronary Artery (AAOCA) high‐risk anatomical features (intramural segment, acute take‐off angle, slit‐like ostium) cause coronary stenosis leading to myocardial infarction. How these features alter coronary physiology remains unclear.
Mauro Lo Rito, Mattia Squillace, Mauro Luca Agnifili, Antonio Rosato, Serena Anglese, Adele Chiavetta, Camilla Muritti, Miriam Deamici, Jessica Negri, Andrea Attanasio, Gianluigi Guida, Giandomenico Disabato, Francesco Secchi, Michele Conti, Alessandro Frigiola, Massimo Chessa, Alessandro Giamberti, Francesco Bedogni   +17 more
wiley   +1 more source

Isobutyryl-coenzyme a dehydrogenase deficiency: disease, or non-disease?

Orphanet Journal of Rare Diseases
Background Isobutyryl-coenzyme A dehydrogenase deficiency (IBDD) is a rare inborn error of valine metabolism caused by variants in the ACAD8 gene. Since its initial description in 1998, a wide range of clinical features has been reported, but the disease
María Daniela Santacruz Reyes, Jörn Oliver Sass   +1 more
doaj   +1 more source