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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 ...
Chemotherapy-induced acral erythema, also known as palmar-plantar erythrodysesthesia or hand-foot syndrome is reddening, swelling, numbness and desquamation (skin sloughing or peeling) on palms of the hands and soles of the feet (and, occasionally, on the knees, elbows, and elsewhere) that can occur after chemotherapy in patients with cancer.
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 ...
The most prominent symptoms of erythromelalgia are episodes of erythema, swelling, a painful deep-aching of the soft tissue (usually either radiating or shooting) and tenderness, along with a painful burning sensation primarily in the extremities. These symptoms are often symmetric and affect the lower extremities more frequently than the upper ...
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 median time interval between the onset of symptoms and the diagnosis was 6 years, with a range of 26 days to 14 years. This suggests that the symptoms of MAGIC syndrome may manifest relatively long after the initial onset of symptoms. During the course of MAGIC syndrome, the signs and symptoms of BD may typically occur before those of RP. [4]
Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. [2] It is common in infants, [3] [4] but is usually self-corrected during growth, due to the jaws' increasing in size.
Full wakefulness and general anesthesia are the two extremes of the spectrum. Conscious sedation and monitored anesthesia care (MAC) refer to an awareness somewhere in the middle of the spectrum, depending on the degree to which a patient is sedated. Monitored anesthesia care involves titration of local anesthesia along with sedation and ...