Basigin precursor (5F7) (Collagenase stimulatory factor) (Extracellular matrix metalloproteinase inducer) (EMMPRIN) (Hepatoma-associated antigen) (HAb18G) (Leukocyte activation antigen M6) (OK blood group antigen) (Tumor cell-derived collagenase stimulatory factor) (TCSF) (CD147 antigen) [UNQ6505/PRO21383]
развернуть
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
High myopia (HM) is defined as a refractive error worse than -6.00 diopter (D). This study aims to update the phenotypic and genotypic landscape of nonsyndromic HM and to establish a biological link between the phenotypic traits and genetic deficiencies. A cross-sectional study involving 731 participants varying in refractive error, axial length (AL), age, myopic retinopathy, and visual impairment. The phenotypic traits were analyzed by four ophthalmologists while mutational screening was performed in eight autosomal causative genes. Finally, we assessed the clinical relevance of identified mutations under the guidance of the American College of Medical Genetics and Genomics. The relationship between refractive error and AL varied in four different age groups ranging from 3- to 85-years old. In adult groups older than 21 years, 1-mm increase in AL conferred 10.84% higher risk of pathologic retinopathy (Category ≥2) as well as 7.35% higher risk of low vision (best-corrected visual acuities <0.3) with P values < 0.001. The prevalence rates of pathologic retinopathy and low vision both showed a nonlinear positive correlation with age. Forty-five patients were confirmed to harbor pathogenic mutations, including 20 novel mutations. These mutations enriched the mutational pool of nonsyndromic HM to 1.5 times its previous size and enabled a statistically significant analysis of the genotype-phenotype correlation. Finally, SLC39A5, CCDC111, BSG, and P4HA2 were more relevant to eye elongation, while ZNF644, SCO2, and LEPREL1 appeared more relevant to refracting media. Our findings shed light on how multiple HM-related phenotypes are associated with each other and their link with gene variants.
MeSH Terms
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Aging
- Asian Continental Ancestry Group
- Axial Length, Eye
- Child
- Child, Preschool
- China
- Cross-Sectional Studies
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genotype
- Humans
- Male
- Middle Aged
- Myopia, Degenerative
- Phenotype
- Retinal Diseases
- Vision, Low
- Young Adult
развернуть
Age-related effects of cardiac sympathetic denervation on the responses to cardiopulmonary receptor stimulation in piglets.
The effects of right stellate ganglionectomy (RSG) and bilateral stellate ganglionectomy (BSG) on cardiovascular responses to phenyl biguanide (PBG, 80 micrograms/kg) were studied in 1- and 8-wk-old piglets. Animals were anesthetized with Saffan, paralyzed, thoractomized, and ventilated with 100% O2. Recordings of the ECG (lead II) and aortic pressure (AoP) were used to compute the maximum R-R interval, heart rate (HR), and mean AoP, and to determine the occurrence of atrioventricular conduction block (AVB). Right atrial injections of PBG in 1-wk-old piglets elicited AVB as well as decreases in AoP and HR in all animals; this response pattern was not altered by either RSG or BSG. The PBG response of neurally intact 8-wk-old animals was comprised of a decrease of HR without change in AoP; AVB occurred in three of six animals. After RSG or BSG, AoP decreased along with decreased HR, and now AVB occurred in all animals; changes of AoP and maximum R-R interval were greater after BSG than after RSG. These results suggest that the stellate ganglia exert a neuroprotective influence on cardiovascular function, requiring some degree of maturation for expression. Our findings support the hypothesis that an imbalance of cardiac autonomic innervation favoring parasympathetic activity may produce immature responses to cardiopulmonary afferent stimulation in older maturing animals.
MeSH Terms
- Aging
- Animals
- Animals, Newborn
- Biguanides
- Cardiac Catheterization
- Cardiovascular System
- Electrocardiography
- Heart
- Hemodynamics
- Receptors, Biogenic Amine
- Serotonin Receptor Agonists
- Swine
- Sympathetic Nervous System