Results 51 to 60 of about 9,163 (169)

Case report of self-improving collodion ichthyosis in the newborn

Journal of International Medical Research, 2023
Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth.
Suyue Zhu, Yazhou Jiang, Nan Shen, Hanjun Yin, Jibing Qiao   +4 more
doaj   +1 more source

Endothelial Integrin‐Linked Kinase (ILK) Deficiency Promotes Endothelial Activation and Cardiovascular Dysfunction via Receptor Interacting Protein Kinase‐1 (RIPK1) Enriched‐Extracellular Vesicle Signalling

Journal of Extracellular Vesicles, Volume 15, Issue 6, June 2026.
Endothelial ILK loss drives RIPK1‐enriched EVs that propagate systemic endothelial activation and cardiovascular remodelling. EV cargo remodelling induces early endothelial injury, microvascular dysfunction and chronic cardiac alterations through a RIPK1 dependent pathway.
Alberto Cook‐Calvete, María Delgado‐Marín, Sara Jorquera Ortega, Silvia Moreta, Mercedes Castro‐Pinto, José López‐Menendez, Blanca Fernandez‐Rodriguez, Julia García‐García, Carlos Zaragoza, Marta Saura   +9 more
wiley   +1 more source

ASPRV1R208M in a patient with a nonsyndromic epidermal differentiation disorder/ichthyosis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Wei Wang, Hiram Larangeira de Almeida, Kilian Eyerich, Cristina Has   +3 more
wiley   +1 more source

Prevalence and Risk Factors for Obstructive Sleep Apnea in São Paulo: Findings From the 4th Edition of the EPISONO Study

Journal of Sleep Research, Volume 35, Issue 3, June 2026.
ABSTRACT Obstructive sleep apnea (OSA) affects around 936 million individuals worldwide, making it the most prevalent breathing‐related sleep disorder. The aim was to estimate the prevalence of OSA in São Paulo, Brazil, based on data from the São Paulo Epidemiologic Sleep Study (EPISONO) 4th edition.
Sergio Tufik, Allan Saj Porcacchia, Gabriel Natan Pires, Monica Levy Andersen   +3 more
wiley   +1 more source

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source

COLLODION AS AN ESCHAROTIC.

The Lancet
n ...
openaire   +2 more sources

Le bébé collodion: aspects cliniques et intérêt du diagnostic anténatal

The Pan African Medical Journal, 2017
Le bébé collodion est une forme sévère de l'ichtyose congénitale à révélation néonatale. Le tableau clinique est souvent caractéristique. L'évolution, quand elle n'est pas fatale, se fait le plus souvent vers l'ichtyose sèche.
Ridha Fatnassi, Nédia Marouen, Houcem Ragmoun, Latifa Marzougui, Sabra Hammami   +4 more
doaj   +1 more source

Cellularity of Routinely Prepared Cell Blocks: Insights From an International Study

Cytopathology, Volume 37, Issue 3, Page 214-221, May 2026.
This study revealed marked variability in the proportion of poorly cellular cell blocks among preparation methods and laboratories, highlighting the need for improved processing and regular monitoring of cell block adequacy. ABSTRACT Objective Formalin‐fixed, paraffin‐embedded (FFPE) cell blocks (CBs) are widely used for processing cytology specimens ...
Irena Srebotnik Kirbis, Ivana Kholova, Heini Huhtala, Margareta Strojan Flezar, Ruben Rodrigues Roque, Heli‐Hakso Mäkinen, Miisa Litmanen, Danijela Vrdoljak‐Mozetič, Suzana Harabajsa, Ekkehard Hewer, Enrica Bresaola, Lia Van Zuylen‐Manders, Pawel Schubert, Maria Praça, Esther Diana Rossi, Peter Karl Bode, Laetitia Lacoste‐Collin, Jessica Barizzi, Vincenzo Fiorentino, Tobias Hedegaard, Sietske van der Meulen, Ute Engel, Iris Timmer, Tugba Taskin Turkmenoglu, Jadranka Vidak, Elena Vigliar, Sonsoles Aso Manso, Jamal Musayev, Güliz A. Barkan, María D. Lozano, Ljube Ivkovski, Bettien van Hemel, Luca Carsana, Clementina Di Tonno, Birgit Weynand, Tania Labiano, Beatrix Cochand‐Priollet   +36 more
wiley   +1 more source

Engineering the 3′‐UTR of Tobacco Vein Mottling Virus to Confer Cross‐Protection Against Potyviruses

Molecular Plant Pathology, Volume 27, Issue 5, May 2026.
The 3′‐untranslated region (3′‐UTR) and its secondary structure of virus genomic RNA of tobacco vein mottling virus (TVMV) are important in symptoms attenuation, which can be engineered for cross‐protection against further viral infection. We provide experimental evidence that supports the roles of 3′‐UTR in potyvirus infection.
Haijuan Wang, Zhenqi Sun, Baolong Zhang, Zhaoran Wu, Jiaxin Xu, Mingmin Zhao   +5 more
wiley   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, Volume 13, Issue 20, 9 April 2026.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source