Results 41 to 50 of about 13,573 (219)
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte +6 more
wiley +1 more source
Association between atopic and non-atopic diseases at children. [PDF]
Ассоциация между атопическими и неатопическими аллергическими болезнями у детей. Абатуров А.Е., Дитятковский В.А., Науменко Н.В., Кулиева А., Бовсуновская К., Филатова И.А.
Abaturov, O. +5 more
core +4 more sources
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Management of duane retraction syndrome
Background Duane retraction syndrome (DRS) is a congenital ocular motility disorder most commonly characterized by the inability of the eye to abduct, sometimes limitation of adduction, and globe retraction with palpebral fissure narrowing on adduction ...
Ahmed E.M Ramadan +3 more
doaj +1 more source
Magnetic Resonance Imaging of Optic Nerve Traction During Adduction in Primary Open-Angle Glaucoma With Normal Intraocular Pressure. [PDF]
PurposeWe used magnetic resonance imaging (MRI) to ascertain effects of optic nerve (ON) traction in adduction, a phenomenon proposed as neuropathic in primary open-angle glaucoma (POAG).MethodsSeventeen patients with POAG and maximal IOP ≤ 20 mm Hg, and
Bonelli, Laura +8 more
core +1 more source
Bilateral inverse Duane′s retraction syndrome-A case report
Duane′s retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome.
Chatterjee Pranab +2 more
doaj
Type III Duane′s retraction syndrome (DRS) is a rare condition and represents only 1% of all cases of Duane′s syndrome. It consists of limited/absent abduction as well as adduction of the affected eye.
Priyanka Arora +2 more
doaj +1 more source
Intraoperative length and tension curves of human eye muscles. Including stiffness in passive horizontal eye movement in awake volunteers [PDF]
Intraoperative continuous-registration length and tension curves of attached and detached eye muscles were made in 18 strabismic patients under general anesthesia. For relaxed eye muscles, we found an exponential relation between length and tension.
Dijk, B. (Bob) van +3 more
core +2 more sources
ABSTRACT The lingering effects of COVID‐19 may impair survivors' long‐term health‐related quality of life (HRQoL). However, multicentre studies focusing on the Omicron variant, particularly in middle‐ and low‐income settings, are scarce. We conducted a prospective cohort study across 24 Brazilian hospitals between December 2021 and March 2024, when ...
Geraldine Trott +55 more
wiley +1 more source

