Results 151 to 160 of about 51,667 (304)

Spontaneous hepatic tumor regression in an infant with trisomy 18

Pediatric Investigation, EarlyView.
Masashi Hotta, Katsuya Hirata, Shota Inoue, Kohei Higuchi, Eriko Nishi, Kazuko Wada   +5 more
wiley   +1 more source

Neurokinin‐1 receptor activation protects against cardiac fibrosis, inflammation and diastolic dysfunction in type 2 diabetic mice

British Journal of Pharmacology, EarlyView.
Background and Purpose The pathogenesis of type 2 diabetes mellitus (T2DM)‐induced cardiomyopathy involves cardiac fibrosis that leads to diastolic dysfunction. We established that replacement of lost substance P (SP) that occurs in T2DM reduces cardiac fibrosis and decreases inflammation in T2DM mice and non‐human primates.
Alexander Widiapradja, Heather Connery, Brody J. Helmick, Kallie J. Schafner, Vamsi Manchikalapudi, Hannah Horvath, Sophia Gugino, Tamas Kriska, Anja Herrnreiter, Evan DeVallance, William B. Campbell, Scott P. Levick   +11 more
wiley   +1 more source

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

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Association of Deviated Nasal Septum as an Etiological Factor for Antrochoanal Polyp. [PDF]

Iran J Otorhinolaryngol
Muraleedharan S, Saldanha M, Samson S, Uppoor R.   +3 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Intranasal Oxymetazoline and Xylometazoline Use in Patients With Deviated Nasal Septum: A Cross-Sectional Telephone Survey. [PDF]

OTO Open
Masalski M, Kurasz J, Kosiorowska A, Mateja A, Morawski K.   +4 more
europepmc   +1 more source

Investigating the Effect of Tumour Necrosis Factor Antagonist on Olfaction

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives Tumour Necrosis factor antagonists is a potent anti‐inflammatory medication and has shown to improve olfactory function in murine models. The primary aim was to determine the effect of TNF antagonists on olfactory performance in humans.
Andreas Espehana, George Macfarlane, Elizabeth Mairenn Garden, Liam Lee, Gabija Klyvyte, Lavandan Jegatheeswaran, Rebecca Davies, Carl Philpott   +7 more
wiley   +1 more source

The Septoplasty Healthcare Monitor: An Outcome Assessment Infrastructure to Enhance the Quality and Transparency of Care

Clinical Otolaryngology, EarlyView.
ABSTRACT Objective and Design The growing demand for transparency about the efficacy of healthcare has accelerated the use of Patient‐Reported Outcome Measures (PROMs), but their integration into daily practice is challenging. This observational study describes how the Septoplasty Healthcare Monitor (SHM) addresses these challenges and highlights the ...
Victor S. van Dam, Diako Berzenji, Floris V. W. J. van Zijl, Martijn A. H. Oude Voshaar, Bernd Kremer, Frank R. Datema   +5 more
wiley   +1 more source

SeptAlign™ biosorbable implant for correction of mobile cartilaginous nasal septum deviation: A case report. [PDF]

Int J Surg Case Rep
Zylicz HE, Taylor C, Robertson W, Beach ME, Barham W, Barham HP.   +5 more
europepmc   +1 more source