Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A method of removing of blood from the anterior chamber by means of the hyaluronic acid is presented. The application of the natrium hyaluronate is raising the safety of operation as well as acts as means of protection against the appearance of intra- and postoperative complications such as secondary haemorrhages, hypotonia of the eyes or adhesions in the anterior chamber.
 ...
PMID:[Surgical procedure for difficult resorption of hemorrhage in the anterior eye chamber]. 226 47

Using hyaluronic acid (Healon) at the end of a trabeculectomy to fill the anterior chamber reduces postoperative hypotonia, while hyaluronic acid of higher viscosity (Healon GV) can provoke a pseudomalignant glaucoma.
 ...
PMID:The use of hyaluronic acid of different viscosities in preventing postoperative hypotony after trabeculectomy. 795 57

UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide hyaluronic acid. UGDH is critical to the production of extracellular matrix components which are essential to the migration and connectivity of neurons early in human brain development. In this report, we describe one child of a consanguineous family who presented with distinct clinical features including global developmental delay, axial hypotonia, bilateral undescended testis, and subtle dysmorphic features. Whole genome sequencing and a segregation was performed to identify the genetic cause of the disease within the family. Though mutations in the UGDH protein have been described as causing developmental delay in various model organisms, to our knowledge, this is the first identification of the novel homozygous missense variant in exon8 of UGDH NM_003359.3: c.950 G>A (p.Arg317Gln) and most likely the cause of the patient's phenotype. This variant falls in an active region and replaces the highly conserved Arginine 317 residues across mammals.
 ...
PMID:A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia. 3217 96