AB119. Computer-aided facial recognition of Chinese individuals with 22q11.2 deletion-algorithm training using NIH atlas of human malformation syndromes from diverse population

Structurally-oriented biologists examine cells, tissues, organelles and macromolecules in order to gain insight into cellular and molecular physiology by relating structure to function. The understanding of these structures can be greatly enhanced by the use of techniques for the visualization and quantitative analysis of three-dimensional structure. Three projects from current research activities will be presented in order to illustrate both the present capabilities of computer aided techniques as well as their limitations and future possibilities.The first project concerns the three-dimensional reconstruction of the neuritic plaques found in the brains of patients with Alzheimer's disease. We have developed a software package “Synu” for investigation of 3D data sets which has been used in conjunction with laser confocal light microscopy to study the structure of the neuritic plaque. Tissue sections of autopsy samples from patients with Alzheimer's disease were double-labeled for tau, a cytoskeletal marker for abnormal neurites, and synaptophysin, a marker of presynaptic terminals.

Download Full-text

Three-Dimensional Subcellular Organization of Hepatocytes in Intact Liver: Simultaneous Visualization of Cytoskeletal and Membrane Markers by Confocal Microscopy

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100163903 ◽

1996 ◽

Vol 54 ◽

pp. 288-289

Author(s):

Greg V. Martin ◽

Ann L. Hubbard

Keyword(s):

Three Dimensional ◽

Integral Membrane Proteins ◽

Polarized Secretion ◽

Microscope Images ◽

Computer Aided ◽

Intracellular Organelles ◽

Cytoskeletal Elements ◽

Simultaneous Visualization

The microtubule (MT) cytoskeleton is necessary for many of the polarized functions of hepatocytes. Among the functions dependent on the MT-based cytoskeleton are polarized secretion of proteins, delivery of endocytosed material to lysosomes, and transcytosis of integral plasma membrane (PM) proteins. Although microtubules have been shown to be crucial to the establishment and maintenance of functional and structural polarization in the hepatocyte, little is known about the architecture of the hepatocyte MT cytoskeleton in vivo, particularly with regard to its relationship to PM domains and membranous organelles. Using an in situ extraction technique that preserves both microtubules and cellular membranes, we have developed a protocol for immunofluorescent co-localization of cytoskeletal elements and integral membrane proteins within 20 µm cryosections of fixed rat liver. Computer-aided 3D reconstruction of multi-spectral confocal microscope images was used to visualize the spatial relationships among the MT cytoskeleton, PM domains and intracellular organelles.

Download Full-text

Surgical Management of Patients With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0004 ◽

2019 ◽

Vol 4 (5) ◽

pp. 857-869

Author(s):

Oksana A. Jackson ◽

Alison E. Kaye

Keyword(s):

Surgical Management ◽

Preoperative Evaluation ◽

Preoperative Assessment ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Surgical Decision ◽

Obstructive Sleep ◽

Spine Abnormalities ◽

Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

Download Full-text

Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0002 ◽

2019 ◽

Vol 4 (4) ◽

pp. 633-640 ◽

Cited By ~ 1

Author(s):

Canice E. Crerand ◽

Ari N. Rabkin

Keyword(s):

Cognitive Abilities ◽

Psychotic Disorders ◽

Developmental Stages ◽

Early Adulthood ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Psychosocial Risks ◽

Empirically Supported ◽

Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

Download Full-text

The Colorado Journey Towards Optimal Outcomes for Children With Hearing Loss

Perspectives on Hearing and Hearing Disorders in Childhood ◽

10.1044/hhdc20.1.3 ◽

2010 ◽

Vol 20 (1) ◽

pp. 3-11 ◽

Cited By ~ 2

Author(s):

Christine Yoshinaga-Itano

Keyword(s):

Hearing Loss ◽

Language Development ◽

Hard Of Hearing ◽

Diverse Population ◽

Language Outcomes ◽

Maternal Bonding ◽

Level Of Education ◽

Optimal Outcomes ◽

Outcomes For Children ◽

Children With Hearing Loss

Abstract It is possible for children who are deaf or hard of hearing to attain language development comparable to their hearing peers, but these outcomes are not guaranteed. The population of children with hearing loss is a diverse population and although the variable of the age of identification is less variable, there are numerous variables that could potentially and have historically impacted language outcomes of children who are deaf or hard of hearing. Variables such as hearing loss, maternal level of education, and maternal bonding can overcome the benefits of earlier identification and intervention.

Download Full-text