7 вынікі
Gangliosidosis:
Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecules. Gangliosides are mainly located in the nervous system.
If gangliosides accumulate pathologically
Familial dysautonomia (FD) is an autosomal recessive disease caused by mutations in the I-B kinase complex associated protein (IKBKAP) gene sequence (Anderson et al., 2001; Slaugenhaupt et al., 2001). The disorder affects the development of sensory nerves, resulting in impaired pain and temperature
Patients aged 10-19 years with idiopathic scoliosis, and classified as American Society of Anesthesiology (ASA) class I to III who intended to undergo posterior spinal fusion for deformity correction were enrolled. Prior to surgery, subjects were randomized into either the experimental or control
LAMA2-MD is a congenital muscular dystrophy (CMD) subtype caused by mutations in the laminin alpha 2 gene. LAMA2-MD may present clinically as an early onset, severe phenotype or a late onset limb girdle phenotype. The early onset form is most commonly associated with a complete absence of merosin on
This prospective randomized double-blinded study will enroll 120 children and adolescents ages undergoing scoliosis repair with the diagnosis of idiopathic scoliosis. The primary aim is to determine if intravenous infusion of TXA is more effective than standard care (no TXA) at decreasing blood loss
Craniosynostosis is the condition in which there is premature fusion of one or more of these sutures between the bones of the skull. Craniosynostosis limits the ability of the cranial vault to expand to accommodate the rapidly growing brain in infancy and early childhood. Deformation of skull shape
PROTOCOL OUTLINE: Patients receive a comprehensive clinical evaluation including an ophthalmologic exam; speech, communication, and developmental assessment; nutritional evaluation; neurologic exam; respiratory monitoring; and cytogenetic studies.
Selected patients with malnutrition are given night