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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues.
This page was last edited on 22 July 2006, at 23:58 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
The effects are varied depending on the particular drug given. When anesthetists administer standard doses of these anesthetic drugs to a person with pseudocholinesterase deficiency, the patient experiences prolonged paralysis of the respiratory muscles, requiring an extended period of time during which the patient must be mechanically ventilated.
The KO "O" derives from SCL-90-R. In comparison to SCL-90-R it differs mainly in the lack of items referring to psychotic symptoms and inclusion of questions about the most common symptoms in patients with neurotic disorders observed between 1975 and 1978. KO "O" was designed as one of a set of tools used for collecting information about ...
Malignant hyperpyrexia, anesthesia related hyperthermia [1] Abnormalities in the ryanodine receptor 1 gene are commonly detected in people who have experienced an episode of malignant hyperthermia: Specialty: Anesthesiology, critical care medicine: Symptoms: Muscle rigidity, high body temperature, fast heart rate [1] Complications
The Child and Adolescent Symptom Inventory (CASI) is a behavioral rating checklist created by Kenneth Gadow and Joyce Sprafkin that evaluates a range of behaviors related to common emotional and behavioral disorders identified in the Diagnostic and Statistical Manual of Mental Disorders (DSM), including attention deficit hyperactivity disorder, oppositional defiant disorder, conduct disorder ...