Results 111 to 120 of about 7,212 (260)

Adult‐onset Coats disease: A systematic review and meta‐analysis of imaging biomarkers and targeted therapies

Acta Ophthalmologica, EarlyView.
Abstract Coats disease diagnosed in adulthood is a rare idiopathic retinal telangiectatic vasculopathy that may differ in phenotype from childhood‐diagnosed cases. This systematic review synthesizes current evidence to characterize its clinical spectrum, imaging features, treatment outcomes and underlying mechanisms, with a focus on immunovascular ...
Catarina Francisco, Nisa Silva, Camiel J. F. Boon   +2 more
wiley   +1 more source

Efficacy and safety of topical macrolides versus systemic tetracyclines for meibomian gland dysfunction–a systematic review and meta‐analysis

Acta Ophthalmologica, EarlyView.
Abstract Purpose To review the efficacy and safety of oral doxycycline antibiotics versus topical macrolides in the treatment of meibomian gland dysfunction (MGD). Design Systematic review and meta‐analysis. Methods A comprehensive search of PubMed, Scopus, Embase, and ClinicalTrials.gov through December 2024 identified randomised controlled trials ...
Margarita Safir, Clara C. Chan, Joshua C. Teichman, Itamar Arbel, Ruth Lapid‐Gortzak, Camiel J. F. Boon, Michael Mimouni, Dror Ben Ephraim Noyman   +7 more
wiley   +1 more source

Ataxia telangiectasia [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1964
H L, UTIAN, M, PLIT
openaire   +2 more sources

Pseudo‐Dystonic Gait in a Preschool Child: Foot Posturing Contralateral to a Cuboid Fracture

Movement Disorders Clinical Practice, EarlyView.
Allison J. Chirigos, Donald L. Gilbert, Barbara E. Hallinan, Jes Marchbank, Alberto J. Espay   +4 more
wiley   +1 more source

Macular telangiectasia type 2 genetic risk variants associated with clinical characteristics in the Slovenian cohort

Acta Ophthalmologica, EarlyView.
Abstract Purpose Early diagnosis of macular telangiectasia type 2 (MacTel) remains challenging, and the contribution of genetic variation to its clinical heterogeneity is unclear. This study investigated associations between MacTel risk variants and clinical characteristics in a Slovenian cohort.
Ajda Kunčič, Nataša Debeljak, Petra Hudler, Janez Smerkolj, Mojca Urbančič   +4 more
wiley   +1 more source

Impact of facial telangiectasias and anemia on quality of life in patients with hereditary hemorrhagic telangiectasia: a cross-sectional study using FACE-Q. [PDF]

J Patient Rep Outcomes
Sadok N, Bielefeld F, Martin CN, Skoda EM, Klinger K, Toppe F, Schleupner MC, Boosfeld L, Kropf B, Voß N, Lakomek A, Valina AL, Kaiser C, Garvert J, Lang S, Droege F.   +15 more
europepmc   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Atypical Presentation of Hereditary Hemorrhagic Telangiectasia Without Recurrent Epistaxis Leading to Delayed Diagnosis. [PDF]

Am J Case Rep
Syed D, Khan F, Khan N.
europepmc   +1 more source

In vivo differentiation of scarring alopecia using line‐field confocal optical coherence tomography: a pilot study

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives: Diagnosing cicatricial alopecia is challenging. Even with histology, a definitive diagnosis cannot always be made. Line‐field confocal optical coherence tomography (LC‐OCT), a non‐invasive imaging method with high resolution used in vivo, has proven helpful in diagnosing scarring alopecia.
Marie‐Christine Nutz, Julia Welzel, Daniela Hartmann, Lars E. French, Maximilian Deußing, Elke C. Sattler   +5 more
wiley   +1 more source

Hæmorrhagic Telangiectasia [PDF]

Proceedings of the Royal Society of Medicine, 1945
openaire   +2 more sources