Purpose: To study refractive errors in children with relatively serious congenital myogenic ptosis and to carry out a comparative study in relation to control children in our population.
Methods: We included 35 children with simple congenital myogenic ptosis, 27 of them had minor ptosis, 3 moderate ptosis and 5 serious ptosis. Thirty-five children were also in the control group. One eye of every subject was included, the worst eye in subjects of the ptosis group and an eye selected at random in control group subjects. A comparative study of refractive data in every group was carried out, using the Student's t-test, ANOVA and Chi square or Yates correction tests.
Results: We obtained significant differences between children with ptosis and controls in average spherical equivalent (3.08/1.49), in average absolute sphere (2.80/1.42) and in average absolute cylinder (0.81/0.31) (p<0.05). We also observed a relation between the presence of astigmatism and the seriousness of ptosis (chi2=6.88>5.99), and between the need for optical correction and the presence of ptosis (chi2=15.92>3.84).
Conclusions: Children with simple congenital myogenic ptosis in our enviroment have greater refractive errors than control children. Ptosis children require optical correction more frequently than control. The more serious the ptosis, the more likelihood there is of having astigmatism.
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http://dx.doi.org/10.4321/s0365-66912008001000007 | DOI Listing |
BMC Ophthalmol
December 2024
The Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, 526601, Israel.
Purpose: Frontalis sling surgery is a common method for ptosis correction for both pediatric and adult populations. This study aims to compare the characteristics and outcomes of this surgery in these two populations.
Methods: A retrospective cohort study.
Eur J Hum Genet
December 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.
View Article and Find Full Text PDFGene
February 2025
The Musculoskeletal Genetics Laboratory, The Azrieli Faculty of Medicine, Bar-Ilan University, Safed, 1311502, Israel; Hebrew SeniorLife, Hinda and Arthur Marcus Institute for Aging Research, Boston, MA 02131, USA. Electronic address:
Understanding the early stages of human congenital myopathies is critical for proposing strategies for improving musculoskeletal muscle performance, such as restoring the functional integrity of the cytoskeleton. SH3 and cysteine-rich domain 3 (STAC3) are proteins involved in nutrient regulation and are an essential component of the excitation-contraction (EC) coupling machinery for Ca releasing. A mutation in STAC3 causes debilitating Native American Myopathy (NAM) in humans, while loss of this gene in mice and zebrafish (ZF) results in premature death.
View Article and Find Full Text PDFMech Ageing Dev
November 2024
Department of Anatomy and Molecular Embryology, Institute of Anatomy, Medical Faculty, Ruhr University Bochum, Bochum, Germany. Electronic address:
Developmental defects of the ventral abdominal wall, such as gastroschisis, have been associated with prenatal stress exposure. To investigate this further, dexamethasone (DEX), a synthetic glucocorticoid, was administered to fertilized chicken eggs on day 1 of incubation to simulate stress, and embryonic development was subsequently analyzed through in-situ hybridization, immunohistochemistry, and histological methods. Significant developmental abnormalities were displayed by DEX-treated embryos, including open abdomens, reduced MYOG expression in the abdominal wall, and disrupted muscle fiber formation, as indicated by altered Myosin heavy chain patterns.
View Article and Find Full Text PDFChildren (Basel)
October 2024
Ospedale Cav. R. Apicella, ASL Napoli 3 Sud, 80040 Pollena Trocchia, Italy.
Currently, the guidelines for audiological and vestibular follow-up in children with congenital cytomegalovirus (CMV) are not well-defined. The general recommendation is to evaluate hearing in all children with congenital CMV at the same intervals: once every 3-6 months up to 1 year of age, once every 6 months from 1 to 3 years of age, and once a year from 3 to 6 years of age. Additionally, there are no universally accepted protocols for the vestibular follow-up of children with congenital CMV, although video head impulse test (v-HIT) and cervical vestibular-evoked myogenic potentials (cVEMPs) are sometimes used.
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