Results 61 to 70 of about 17,204 (212)

Transconjunctival levator muscle plication in mild to moderate congenital ptosis

Delta Journal of Ophthalmology, 2020
Purpose The aim of this study was to evaluate the efficacy, cosmetic result, and safety of transconjunctival plication of the levator muscle in the correction of simple congenital ptosis.
Mohammad E Abdel Fattah, Omar E Basiony, Mahmoud E Saleh, Reem A.K Dessouky   +3 more
doaj   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study

Experimental Physiology, EarlyView.
Abstract Internal carotid artery (ICA) dissection is a rare and potentially devastating cause of cerebral ischaemia, initiated by an intimal tear or rupture of the vasa vasorum, that can lead to an intraluminal thrombus, vascular stenosis, occlusion, or dissecting aneurysm formation.
Damian M. Bailey, Richard G. Davies, Brenig L. Gwilym, Benjamin S. Stacey, Danny Walmsley, Michael H. Lewis, Josip Butkovic, Ivan Mumlek, Brad Perry, Zvonomir Vrselja, Shigehiko Ogoh, James A. Pawelczyk, Mohamad Bashir, Richard D. White, Ian M. Williams   +14 more
wiley   +1 more source

Ptosis: Evaluation and management

Kerala Journal of Ophthalmology, 2019
Blepharoptosis, or ptosis of the eyelid, refers to drooping of the upper eyelid that usually results from a congenital or acquired abnormality of the muscles that elevate the eyelid.
Marian Pauly, R Sruthi
doaj   +1 more source

An approach to familial lymphoedema. [PDF]

, 2017
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments,
Atton, Brice, Joyce, Keppler-Noreuil, Stemmer   +4 more
core   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Managing Marcus Gunn Ptosis - Our Approach

Delhi Journal of Ophthalmology, 2017
Marcus Gunn ptosis is a congenital synkinetic ptosis due to an abnormal innervation of the levator muscle. Aim of the surgical treatment is to eliminate jaw winking phenomenon and correct ptosis. Moderate to severe jaw winking ptosis is best corrected by
A. K. Grover, Shaloo Bageja
doaj   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source