Results 61 to 70 of about 248,586 (158)

A novel central line securement vest reduces line trauma and improves quality of life in patients with intestinal failure

JPGN Reports, Volume 7, Issue 3, Page 416-421, August 2026.
Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz, Kimberly S. Ackerman, Angelica M. Cercone, Jane Anne Yaworski, Clifton W. Callaway, Jeffrey A. Rudolph, Mioara D. Manole   +6 more
wiley   +1 more source

A Case of Systemic Keratotic Disorders With Bark‐Like Appearance on the Dorsal Aspects of Both Feet

The Journal of Dermatology, EarlyView.
Kenta Morimoto, Sumire Ishino, Ken Watanabe   +2 more
wiley   +1 more source

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Muddassir Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa   +8 more
wiley   +1 more source

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. [PDF]

, 2010
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs).
Hudson H. Freeze, Silhavy, J.L., Christian R.H. Raetz, Al-Gazali, Lihadh, Swistun, Dominika, Dusica Babovic-Vuksanovic, Guan, Z., Blümel, Peter, Sykut-Cegielska, J., Hans van Bokhoven, Bokhoven, J.H.L.M. van, Ludwig Lehle, Lehle, Ludwig, Wevers, R.A., Al-Gazali, L., Houliston, S., Dobyns, W.B., Bassam R. Ali, Lefeber, D.J., Ali, Bassam R., Raetz, Christian R.H., Dirk J. Lefeber, Guan, Ziqiang, Ron A. Wevers, Hans Hombauer, Maciej Adamowicz, Jolanta Sykut-Cegielska, Stephanie L. Bielas, Ng, B.G., Freeze, H.H., Ewa Swiezewska, Wevers, Ron A., William B. Dobyns, Gleeson, Joseph G., Bobby G. Ng, Cantagrel, Vincent, Ng, Bobby G., Swiezewska, Ewa, Lefeber, Dirk J., De Brouwer, Arjan P., Houliston, Scott, Adamowicz, M., Silhavy, Jennifer L., Lihadh Al-Gazali, Ziqiang Guan, Éva Morava, Dobyns, William B., Adamowicz, Maciej, Morava, E., Babovic-Vuksanovic, Dusica, Raetz, C.R., Vincent Cantagrel, Lehle, L., Hombauer, H., Scott Houliston, Freeze, Hudson H., Jennifer L. Silhavy, Swistun, D., Blumel, P., Babovic-Vuksanovic, D., Cantagrel, V., Gleeson, J.G., Peter Blümel, Sykut-Cegielska, Jolanta, Arjan P. De Brouwer, Morava, Éva, Joseph G. Gleeson, Brouwer, A.P.M. de, van Bokhoven, Hans, Swiezewska, E., Hombauer, Hans, Dominika Swistun, Bielas, S.L., Ali, B.R., Bielas, Stephanie L.   +74 more
core   +2 more sources

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Potential of 3D Skin Models and N/TERT‐2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders

Experimental Dermatology, Volume 35, Issue 6, June 2026.
ABSTRACT Autosomal recessive nonsyndromic epidermal differentiation disorders (AR‐nEDDs), also known as autosomal recessive congenital ichthyosis (ARCI), are rare genetic skin diseases that lack curative treatments and can only be managed symptomatically.
Hao‐Hsiang Hsu‐Rehder, Cristina Glocker, Christine Aldrian, Ezgi Dikici, Gesa Sophie Wilde, Mariana Stavila, Nathalie Jonca, Branislav Kollár, Steffen Ulrich Eisenhardt, Judith Fischer   +9 more
wiley   +1 more source

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, Volume 37, Issue 3, Page 365-374, June 2026.
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj  

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

Biomedicines
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the ...
Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito   +23 more
doaj   +1 more source

Video Demonstration of ABCA12‐Related Harlequin Ichthyosis in a Low‐Resource Setting: Case Report and Review of Early Management Challenges

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Chukwuka Elendu, Dependable C. Amaechi, Tochi C. Elendu, Emmanuel C. Amaechi, Ijeoma D. Elendu, Emeka H. Okolo, Mbanefo C. Uyanwune   +6 more
wiley   +1 more source