Results 211 to 220 of about 1,624,695 (280)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

International Dermoscopy Society consensus recommendations for the management of lentigo maligna

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 10, Page 1600-1617, October 2026.
Lentigo maligna (LM) poses diagnostic and therapeutic challenges amid rising incidence and limited high‐quality evidence. This international expert consensus provides pragmatic, evidence‐based and expertise‐informed guidance on LM diagnosis and management.
Ana‐Maria Forsea, Riccardo Pampena, Bengu Nisa Akay, Zoe Apalla, Giuseppe Argenziano, Giulia Briatico, Ralph Braun, Horacio Cabo, Raul Cabrera, Cristina Carrera, Elisa Cinotti, Claudio Conforti, Enzo Errichetti, Gerardo Ferrara, Roberta Giuffrida, Stefania Guida, Pascale Guitera, Allan C. Halpern, Stephen Heyes, Rainer Hofmann‐Wellenhof, Angela M. Hong, Natalia Jaimes, Raimonds Karls, Harald Kittler, Teresa Kränke, Konstantinos Liopyris, Jie Liu, Caterina Longo, Josep Malvehy, Ashfaq A. Marghoob, Hoda Moneib, David Moreno Ramirez, Elvira Moscarella, Eduardo Nagore, Cristian Navarrete‐Dechent, John Paoli, Giovanni Pellacani, Ketty Peris, Susana Puig, Cliff Rosendahl, Lidia Rudnicka, Ahmed Sadek, Philippe Saiag, Gabriel Salerni, Alon Scope, Hans Peter Soyer, Michela V. Starace, Wilhelm Stolz, David L. Swanson, Luc Thomas, Philipp Tschandl, Iris Zalaudek, Aimilios Lallas   +52 more
wiley   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 10, Page 1626-1647, October 2026.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Global Burden of Acne (1990–2021) and Projections for China's Disease Burden Over the Next 15 Years: A Comprehensive Study Based on Global Burden of Disease Data

Journal of Cosmetic Dermatology, Volume 25, Issue 10, October 2026.
ABSTRACT Background Acne vulgaris is a common chronic inflammatory skin disease with a significant impact on the global health burden. Although acne vulgaris is more prevalent among adolescents, the incidence of adult acne is gradually increasing, imposing a severe psychological and social burden, particularly on women of reproductive age.
Qian Zhang, Peixuan Wu, Chun Yang, Zijie He, Yanyan Feng   +4 more
wiley   +1 more source

Poland Syndrome: A Case Report

Haseki Tıp Bülteni, 2011
Tülay Tos, Ali Karaman, Ferda Perçin
doaj  

Obesity‐Related Coagulation Activation in Adolescents and Children: A Systematic Review and Meta‐Analysis

Obesity Reviews, Volume 27, Issue 10, October 2026.
Obesity is widely recognized as a pro‐thrombotic condition, yet the specific biomarker profile reflecting coagulation activation remains incompletely defined. Obesity is associated with increased coagulation activation, particularly in children, suggesting an early pro‐thrombotic shift.
Julia Buchold, Hans‐Jonas Meyer, Manuel Florian Struck, Shrey Kohli, Akash Mathew, Gyulten Mangova, Alexey Surov, Matthias Blüher, Berend Isermann, Silke Zimmermann   +9 more
wiley   +1 more source

Substrate‐Selective Inhibition of the SARS‐CoV‐2 Papain‐Like Protease: Inhibition of Hydrolysis of Human Over Viral Substrates

Chemistry – A European Journal, Volume 32, Issue 36, 24 September 2026.
The SARS‐CoV‐2 papain‐like protease (PLpro) is a medicinal chemistry target. Here we report mass spectrometry assays employing oligopeptide substrates based on the sequences of the viral polyproteins 1a/1ab and on an ISG15‐modified human protein, which enabled the identification of substrate‐selective PLpro inhibitors.
Sakshi Sharma, Peter A. C. Wing, Wojtek Treyde, Shyam Basak, Simeon D. Draganov, Taylah Andrews‐Clark, Eidarus Salah, Petra Lukacik, Claire Strain‐Damerell, Adán Pinto‐Fernández, Martin A. Walsh, Fernanda Duarte, Christopher J. Schofield, Lennart Brewitz   +13 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1951-1955, September 2026.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Poland Syndrome in a Pregnancy From an Assisted Reproductive Technology (ART) Cycle With In Vitro Maturation (IVM) and Rescue Intracytoplasmic Sperm Injection (ICSI). [PDF]

Cureus
Petrogiannis N, Petrogiannis S, Filippa M, Alexakis C, Chatzimeletiou K.   +4 more
europepmc   +1 more source