Results 71 to 80 of about 38,761 (232)

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Refining the treatment of immune checkpoint inhibitor–associated myocarditis: Challenges, innovations and rechallenge considerations

British Journal of Pharmacology, EarlyView.
Immune checkpoint inhibitor (ICI)‐associated myocarditis has emerged as a severe and clinically complex immune‐related toxicity that poses significant challenges for therapeutic decision‐making in routine cardio‐oncological care. High‐dose corticosteroids remain the first‐line therapy, yet their timing, dosage and tapering require careful clinical ...
Raluca I. Mincu, Lisa Zimmer, Dimitra Vlachopoulou, Elias Haj‐Yehia, Julia Hoffmann, Lars Michel, Elisabeth Livingstone, Dirk Schadendorf, Alpaslan Tasdogan, Matthias Totzeck, Tienush Rassaf   +10 more
wiley   +1 more source

A Rare Case Report of Unilateral Congenital Ectropion Uveae (CEU) with Iridotrabecular Dysgenesis, Juvenile Glaucoma and Ptosis

Delhi Journal of Ophthalmology, 2019
Congenital ectropion uveae is a rare disorder resulting from proliferation of iris pigment epithelium on the anterior surface of iris. We describe a case of a 28-year-old female presenting with diminution of vision in the left eye.
V.K. Harshavardhan, S. Mohapatra, Parul Priyambada, Rakesh A. Betdur   +3 more
doaj   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Rethinking Mitochondrial Parkinson's Disease in the α‐Synuclein Seed Amplification Assays Era

Movement Disorders, EarlyView.
Marco Percetti, Vidal Yahya, Alessio Di Fonzo, Edoardo Monfrini   +3 more
wiley   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, EarlyView.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Periareolar augmentation mastopexy: A new approach dealing with the cases as tuberous breasts

Indian Journal of Plastic Surgery, 2016
Background: Periareolar augmentation mastopexy is one of the most demanded operations at Plastic Surgery clinics. Nevertheless, it is one of the leads of malpractice claims in United States caused by the high patient expectations and the standard ...
Roberto Moltó-García, María Eloísa Villaverde-Doménech, Virina González-Alonso, Francisco Ripoll-Orts, Eduardo Simon-Sanz   +4 more
doaj   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Isolated unilateral ptosis as a complication of sinusitis: A case report and literature review

Clinical Case Reports
Key Clinical Message Ptosis associated with rhinosinusitis may indicate orbital or cavernous sinus involvement, typically accompanied by various other symptoms. However, isolated ptosis is a rare occurrence. This explains the diverse treatment approaches
Youssef El Sayed Ahmad, Mohammad Abraham Kazemizadeh Gol   +1 more
doaj   +1 more source

Comparative evaluation of “closed posterior levator advancement” in simple congenital and aponeurotic ptosis

Taiwan Journal of Ophthalmology
PURPOSE: The purpose of this study was to compare the outcomes of “closed posterior levator advancement” (CPLA) in acquired aponeurotic and simple congenital ptosis with good levator function (LF).
Ruchi Goel, Sonam Singh, Shalin Shah, Samreen Khanam, Priyanka Golhait, Tanvi Gaonker   +5 more
doaj   +1 more source