79 research outputs found
[Review of] Monte Piliawsky. Exit 1 3: Oppression and Racism in Academia
The first half of Exit 13: Oppression and Racism in Academia presents a case study of the University of Southern Mississippi. (The title refers to the I-59 exit leading to Hattiesburg.) Monte Piliawsky concentrates on the early 1970s, during part of which time he held an appointment in the Department of Political Science at USM. He portrays a university controlled by a bigoted administration and describes in great detail the arbitrary and decentralized authority exercised there. His depiction of the University\u27s leadership reveals it as comical if insensitive at one extreme and viciously racist and vindictive on the other. USM is consistently characterized as lacking intellectual integrity and academic standards
De Novo Microdeletion Spanning YWHAE and CRK in an Individual with Intellectual Disability and Stunted Growth
In this report, we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of a portion of 17p13.3 at least 195 Kb in size, not present in either parent. This area of chromosome 17 is associated with Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS), but these conditions are related predominantly to PAFAH1B1, which is not included in the patient’s deletion
Intellectual Disability Related to De Novo Germline Loss of the Distal End of the P-Arm of Chromosome 17: A Case Report
Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient.
Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv).
Results: Karyotype was found to be normal, but CGH revealed a deletion of the tail end of the p-arm of chromosome 17, 17p13.3. At least 134 genes are present in this genomic location, and 35 of them are uncharacterized. Both Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS) are characterized by a smooth cerebral cortex and intellectual disability, but the patient’s symptoms more closely mirror MDS because muscle tone was normal. The patient was significantly shorter than peers, but growth hormone therapy over the course of several years allowed the patient to reach a normal height, albeit shorter than her siblings and parents. The list of genes deleted will be investigated to determine if a single gene is likely responsible for the phenotype.
Conclusions: Here we present a patient with intellectual disability and a previously uncharacterized deletion on chromosome 17. Similar, though not identical conditions have been previously reported, but not well characterized indicating that the present patient could possibly have one of these conditions. Further directions include investigation of the deleted genes to determine a probable cause for the symptoms exhibited
Whole-Body Vibration Alleviates Symptoms of Morphine Withdrawal
Whole-body vibration at 80 Hz has previously been shown to blunt neuropathological markers and behavioral symptoms of alcohol dependence. Here, we evaluate its ability to ameliorate symptoms of morphine use and withdrawal. Behavioral and neurophysiological symptoms of withdrawal were reduced significantly by whole-body vibration treatment
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